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  1. Genetic Counselling
    It is the process of communication which deals with the human problems associated with genetic problem in the family
  2. Indication of Genetic Counselling
    • Advanced parental age (Maternal age ≥35 yr,Paternal age ≥50 yr)
    • Previous child with or family history of (congenital anomaly, Dysmorphology, Mental retardation, Isolated birth defects, Metabolic disorder, Chromosomal anomaly, Single gene disorder)
    • Adult onset genetic disease(Cancer,Huntington disease)
    • Consanguinity
    • Teratogen exposure
    • Repeated pregnancy loss or infertility
    • Pregnancy screening abnormality(Maternal serum α-fetoprotein, Maternal triple or quad screen or variant of this test, Fetal ultrasonography,Fetal karyotype)
    • Heterozygote screening based on ethnic risk (Sickle cell anemia, Tay-Sachs, Canavan, Gaucher diseases, Thalassemias)
    • Follow-up to abnormal neonatal genetic testing
    • Prior to whole genome or exome sequencing
    • Prior to preimplantation genetic testing
  3. Principles of Genetic Counselling
    • Accurate Diagnosis
    • Nondirective counselling
    • Concern for individual
    • Truth in counselling
    • Confidentiality and Trust
    • Timing of genetic counselling
  4. Step up and Step Down treatment in bronchial Asthma
    • • The NIH guidelines emphasize initiating higher-level controller therapy at the outset to establish prompt control, with measures to “step down” therapy once good asthma control is achieved
    • • Asthma therapy can be stepped down after good asthma control has been achieved and ICS has had time to achieve optimal efficacy.
    • • By determining the lowest number or dose of daily controller medications that can maintain good control, the potential for medication adverse effects is reduced.
    • • If a child has had well-controlled asthma for at least 3 mo, the guidelines suggest decreasing the dose or number of the child’s controller medication(s) to establish the minimum required medications to maintain well-controlled asthma.
    • • In contrast, if a child has not-well-controlled asthma, the therapy level should be increased by 1 step and close monitoring is recommended.
    • • For a child with very poorly controlled asthma, the recommendations are that treatment go up 2 steps and/or a short course of oral corticosteroid therapy be given, with evaluation within 2 wk.
    • • As step-up therapy is being considered at any point, it is important to check inhaler technique and adherence, implement environmental control measures, and identify and treat comorbid conditions
  5. Causes of Thrombocytopenia (I MAT)
    • • ITP
    • • Infections: DIC, Malaria, Kalazar, DHF, Hep B & Hep C, HIV, Cong. TORCH, Infection associated with hemophagocytosis syndrome
    • • Medication: Valporate, Penicillin, Heparin, Quinine, Digoxin
    • • Thrombotic microangiopathy: TTP, HUS
    • • Malignancies: Leukemia, Lymphoma, Neuroblastoma
    • • Autoimmune/Related Disorder: SLE, Evans Syndrome, Antiphospholipid Ab Syndrome,Neonatal Immune thrombocytopenia
    • • Immune deficiency: Wiskott Aldrich, HIV/AIDS
    • • Marrow Failure: Thrombocytopenia with Absent Radii, Fanconi Anemia, Schwachman Diamond Syndrome
    • • Marrow Replacement: Osteopetrosis, Gaucher Disease
    • • Others: Hyperpslenism, Kasabach Meritt Syndrome
  6. Causes of Bulbar Palsy(CN IX, X, XI)
    • • Genetic: Kennedy disease, Acute Intermittent Porphyria.
    • • Vascular Causes: Medullary Infarction
    • • Degenerative Causes: Motor Neuron Disease(ALS), Syringobulbia
    • • Inflammatory/Infective: GBS, Poliomyelitis, Lyme disease, Diphtheria
    • • Malignancy: Brain Stem Glioma, Malignant meningitis
    • • Toxic: Botulism
    • • Autoimmune: Myasthenia Gravis
  7. Descending Palsy
    Diphtheria, Polio, Botulism
  8. Newer Modalities for Perinatal Asphyxia
    • • Therapeutic Hypothermia
    • • Oxygen-free radical inhibitors and scavengers: Vitamin E, Vitamin C, Indomethacin, N-acetyl cysteine, Melatonin and Allopurinol, Defereoxime.
    • • Calcium Channel blockers: flunarazine and nimodipine
    • • Excitatory Amino acid antagonists: Magnesium sulfate, Phencyclidine, dextromethorphan, ketamine, MK-801
    • • NMDA recptor Antagniost: Dizoclipine, Memantine
    • • AMPA receptor Antagonist: Topiramate
    • • Erythropoietin
    • • Prevention of excess Nitric oxide formation: nitroarginine
    • • Opiate antagonists and cannabinoids
    • • Xenon gas:
    • • Stem cell transplantation
  9. Clinical Features of Zika Virus
    • • Microcephaly
    • • Craniofacial disproportion
    • • Cutis Gyrata (Skin folds on the scalp due to continued growth of skin despite poor brain growth)
    • • Cranisynostosis
    • • Ocular abnormalities: Focal Pigmentary Mottling, Chorioretinal Atrophy and optic nerve abnormalities
    • • Hearing loss
    • • Arthrogyroposis
  10. Clinical Features of Ebola Virus
    • • Initial Syndrome: Abrupt onset of fever and chills associated with malaise
    • • Rashes: Diffuse erythematous, nonpruritic maculopapular rash may develop involving face, neck, trunks and arms
    • • Gastrointestinal: Watery Diarhoea, Nausea, Vonting and Abdominal Pain
    • • Haemorrhage: Despite traditional name of ebola haemorrhagic fever, massive GI bleeding is not seen in majority of cases
    • • Neurological: Occasionally develop meningoencephalitis with findings such as altered level of consciousness, hyperreflexia, myopathy
    • • Ocular: Signs and symptoms of Uveitis (Blurred Vision, Photophobia and Blindness)
    • • Others: Hiccups, Chest Pain &/or SOB. Conjuctival Injection
  11. Viral Haemorrhagic Fever
    • Tick Borne (Crimean-Congo Haemorrhagic Fever, Kyasaur Forest Disease,Omsk HF)
    • Mosquito- borne (Denque HF, Chikungunya fever, Rift Valley Fever, Yellow fever)
    • Infected animals or material to humans Argentina HF (Bolvian HF, Lassa fever, Marburg fever, Ebola HF,Haemorrhagic fever with renal syndrome)
  12. Newer Drugs for treatment of Seizure
    • Levetiracetam
    • Lamotrigine
    • Topiramate
    • Gabapentin
    • Tigabine
    • Vigabatrin
  13. Gene therapy
    • The introduction of normal genes into cells in place of missing or defective ones in order to correct genetic disorders
    • Novel approach to treat,cure or ultimately prevent a disease by changing the expression of a person’s genes
    • It is one of the two modalities with the potential to cure genetic disease, the other being hemopoietic cell transplantation
  14. Disease in which gene therapy are used
    • Immunology: X-linked SCID, Adenosine Deaminase deficiency, Chronic Granulomatous Disease, Under Investigation in Leukocyte Adhesion Defect, Wiskott Aldrich Syndrome
    • Hemophilia A & Hemophilia B: -Ex vivo method using fibroblasts -Clinical improvement was present.
    • DMD: -Successful in mice,but human trials not yet
    • Cystic Fibrosis: -In vivo trials with Transmembrane Conductance Regulator CFTR.
    • Relapsed ALL
    • Sickle cell, Thalassemia
    • Leber congenital amaurosis, Huntington Chorea
  15. RISKS OF GENE THERAPY:
    • 1.Adverse reactions due to the virus or new genes.
    • 2.Activation of proto-oncogene leading to formation of oncogene.
    • 3.Introduction of a mutation to the next generation.
  16. STEPS IN GENE THERAPY:
    • 1. Identification of the defective gene.
    • 2. Cloning of normal healthy gene.
    • 3. Identification of target cell / tissue / organ.
    • 4. Insertion of the normal functional gene into the host
  17. Haemopoietic stem cell transplant
    • It is a process of infusing blood stem cells from a donar to a patient.
    • It can be ALLOGENIC, AUTOLOGOUS, SYNGENIC
    • ALLOGENIC stem cells can be donated from Bone marrow, Peripheral blood and umbilical cord blood
  18. Indication of Allogenenic HSCT
    • ALL
    • AML
    • Phildelphia chromosome positive CML
    • Myelodysplastic syndrome
    • Hogdkin and NHL
    • Solid tumors: Neuroblastoma, Phabdomyosarcoma, Ewing Sarcoma
    • Inherited marrow failure ( Severe aplastic anemia, Fanconi anemia, Schwachman Diamond Syndrome, Diamond Blackfan Syndrome, Amegakaryocytic lthrombocytopenia, Dyskeratotis congenita)
    • Metabolic/Genetic: (Osteopetrosis, MPS< Leukodystrophies, Gaucher, Neimann Pick, Wolman)
    • Primary Immunodeficiency (WAS, SCID, LAD, Chediak Higashi Syndrome, Hyper IgM Syndrome)
    • Hemoglobinopathies: (Sickle cell dissease, Thalassemia major)
    • HLH
    • Severe variant of platelet dysfunction: Glanzmann Thrombosthenia
    • Life threatening cytopenia unresponsive to conventional treatment
  19. Complication of HSCT
    • ACUTE (Infection, Mucositis, Pulmonary Complication,GVHD, Sinusoidal obstructive syndrome, Malnutrition)
    • CHRONIC (Endocrine, Eye, Ear, Lungs, Renal,CVS, GI, Secondary malignancies, Psychosocial)
  20. Vectors/Deliivery techniques of Gene therapy
    • Physical:Aerosols, Parenteral Injections, Microinjection, electroporation, gene guns
    • Chemical: Calcium phosphate, Surfactant, Dextran
    • Viral Vectors: Retrovirus, Adenovirus, Lentivirus, Herpesvirus (More efficient, single dose sufficient, risk of immunological activation and regeneration of wild type of virus)
  21. Aprroaches of gene therapy
    • Ex-vivo approach: Target gene is taken out from body and trangene is introduced insided the cell then cell is reimplanted into human body, applicable for lymphocytes, fibroblast, myoblasts, stem cell
    • In-vivo approach
  22. Scenario 1: Proven or highly probable Syphillis
    • any of the following is evident or highly probable :
    • - Abnormal Physical Examination
    • - Non-treponemal titre is fourfold higher than mother’s
    • - Positive dark Field or Fluorescent antibody test
    • B. Further Evaluation of the infant is done :
    • - CSF for VDRL, Cell count , Protein
    • - CBC
    • - other test as long bone radiography , CXR , LFT , USG
    • C. Treatment :
    • i Aqueous Crystalline penicillin G: 50,000 units/kg/dose IV every 12 hourly for first 7 days than 8 hourly for three more days or
    • ii- Procaine penicillin G : 50,000 units /kg/dose IM daily for 10 Days
  23. Scenerios 2: Possible congenital Syphillis
    • Infant with normal Physical examination and Serum Quantitative nontreponemal titer same or less than four fold and any of the following :
    • - Maternal treatment not given, inadequate or not documented
    • - Maternal treatment with erythromycin or any other non-penicillin regimen
    • - Maternal treatment administered < 4 weeks before delivery
    • B. Further Evaluation of the infant is done :
    • - CSF for VDRL, Cell count , Protein
    • - CBC
    • - long bone radiography
    • C. Treatment :
    • i- Aqueous Crystalline penicillin G: 50,000 units/kg/dose IV every 12 hourly for first 7 days than 8 hourly for three more days or
    • ii- Procaine penicillin G : 50,000 units /kg/dose IM daily for 10 Days
    • iii- If complete evaluation is normal and follow up is certain , a single dose of Benzathine Penicillin G 50,000 units/kg IM may be substituted for full 10 day course else if evaluation is abnormal full 10 day course is given
  24. Scenario 3: Congenital syphillis less likely
    • A. Infant with normal Physical examination and Serum Quantitative nontreponemal titer same or less than four fold and all of the following :
    • Maternal treatment with penicillin regimen appropriate for the stage of infection and administered > 4 weeks before delivery
    • No evidence of maternal reinfection or relapse
    • B. Further Evaluation of the infant is not required
    • C. Treatment :
    • A single dose of Benzathine Penicillin G 50,000 units/kg IM
  25. Scenario 4: Congenital syphillis unlikely
    • A. Infant with normal Physical examination and Serum Quantitative nontreponemal titer same or less than four fold and both of the following :
    • Adequate maternal treatment before pregnancy
    • Maternal nontreponemal titer remained low before and during pregnancy and at delivery ( VDRL <1:2 or RPR <1:4)
    • B. Further Evaluation of the infant is not required
    • C. Treatment :
    • - No treatment required
    • - A single dose of Benzathine Penicillin G 50,000 units/kg IM may be considered
  26. Managemen of tuberculosis
    • i. Congenital TB: (Although rare is fatal if untreated)
    • - Send Tuberculin skin test , CXR, L.P , Culture
    • - Start INH(20-30mg/kg/dose twice weekly) – 2 M + 4 M(M. Tub.)/9-12 M (M.Bovis)/7-10 M(TBM)
    • RIF ( 10-20mg/kg/dose twice weekly)- 2 M + 4 M(M. Tub.)/9-12 M (M.Bovis)/7-10 M(TBM)
    • PZA(50mg/kg/dose twice weekly ) -2M
    • and aminoglycoside : amikacin (15-30 mg IM/IV) – 2 M
    • - Add Pyridoxine
    • - Steroid (Pred.- 2mg/kg/day for 4-6 weeks than taper slowly)
    • - Coinfection with HIV – at least 9 month therapy
    • - Multidrug resistance – 4 drugs for 12-18 month
    • - Isolate the child
    • ii. Asymptomatic neonate, active T.B in mother (or household contact):
    • - send investigations as of congenital T.B
    • - separate infant from mother until infant starts receiving chemotherapy
    • - If evidence of neonatal ds. Treat as congenital T.B
    • - Else INH/RIF daily – continue until mother is culture neg. for 3-4 months , then send PPD of neonate : if Positive : continue for total 9 months or stop drug
    • - Start Pyridoxine once breastfed
    • iii. Asymptomatic neonate , mother (or household) with positive PPD and Abn. CXR:
    • - Separate mother until evaluation
    • - if mother has active T.B treat as Above (ii.)
    • - if mother has no active pulmonary ds. No treatment required for infant
    • iv. Asymptomatic neonate, mother ( or household contact) with positive PPD , neg. sputum and CXR-N
    • - do not separate the infant
    • - infant needs no treatment but mother should continue INH postpartum
    • v. Neonate with TB exposure in nursery:
    • - Skin test, treat for min. 3 months with INH
    • - Repeat at 3 month, if positive treat for total 9 months or else stop.
  27. Cat I PTB
    • New Bacteriological confirmed TB
    • New Clinically diagnosed Severe TB
    • New Severe Extra Pulmonary TB
    • Special Condition
  28. Cat II PTB
    • Retreatment TB
    • Relapse
    • Defaulter
    • Treatment Failure
  29. Cat II PTB
    • Less Severe
    • New Clinically Diagnosed
    • New EPTB
  30. Drug resistance may be of 2 types:
    • Primary Resistance: Resistance shown by bacteria in a patient, who has not received the drug in question before.
    • Secondary Resistance: Bacteria were sensitive to the drug at the start of the treatment but became resistant to the particular drug during the course of treatment with it.
  31. Indications of Steroid therapy in TB
    • Tuberculous meningitis – reduces vasculits, inflammation and ICP
    • Endobronchial tuberculosis that causes respiratory distress, localized emphysema or segmental pulmonary lesions.
    • Acute tubercular pericardial effusion
    • Miliary TB (with alveolocapillary block)
    • Pleurisy with severe distress
  32. INDURATION ≥5 MM
    • Children in close contact with known or suspected contagious
    • people with tuberculosis disease
    • Children suspected to have tuberculosis disease:
    • • Findings on chest radiograph consistent with active or previously
    • tuberculosis disease
    • • Clinical evidence of tuberculosis disease†
    • Children receiving immunosuppressive therapy‡ or with
    • immunosuppressive conditions, including HIV infection
  33. INDURATION ≥10 MM
    • Children at increased risk of disseminated tuberculosis disease:
    • • Children younger than 4 yr of age
    • • Children with other medical conditions, including Hodgkin disease, lymphoma, diabetes mellitus, chronic renal failure, or malnutrition
    • Children with increased exposure to tuberculosis disease:
    • • Children born in high-prevalence regions of the world
    • • Children often exposed to adults who are HIV infected,
    • homeless, users of illicit drugs, residents of nursing homes,
    • incarcerated or institutionalized, or migrant farm workers
    • • Children who travel to high-prevalence regions of the world
  34. INDURATION ≥15 MM
    Children ≥4 yr of age without risk factors
  35. Stages of SSPE
    • This initial phase (stage I) may at times be missed because of brevity or mildness of the symptoms. Fever, headache, andother signs of encephalitis are absent.
    • The hallmark of the 2nd stage is massive myoclonus, which coincides with extension of the inflammatory process site to deeper structures in the brain, including the basal ganglia. Involuntary movements and repetitive myoclonic jerks beginin single muscle groups but give way to massive spasms and jerks involving both axial and appendicular muscles. Consciousness is maintained.
    • In the 3rd stage, involuntary movements disappear and are replaced by choreoathetosis, immobility, dystonia, and lead pipe rigidity that result from destruction of deeper centers in the basal ganglia.The sensorium deteriorates into dementia, stupor, and then coma.
    • The 4th stage is characterized by loss of critical centers that support breathing, heart rate, and blood pressure. Death soon ensues.
  36. Diagnosis of SSPE can be established
    • (1) measles antibody detected in cerebrospinal fluid
    • (2) characteristic electroencephalographic findings( suppression burst episodes are seen that are characteristic )
    • (3) typical histologic findings in and/or isolation of virus or viral antigen from brain tissue obtained by biopsy or postmortem examination.
  37. Prerequiste of Plasmapharesis
    Large molecule, Long half life, Acutely toxic
  38. Cat I
    • GBS, CIDP, Myasthenia Gravis
    • Wegner, Good Pasteur, Cryoglobinemia
    • HUS, TTP, Sickle cell
    • Syndeham chorea, Wilson, PANDAS
  39. Cat II
    ADEM, Rasmussen, Severe malaria, SLE, ABO, Sickle cell with ACS
  40. NSAIDS
    Good Analgesic and Antipyretic, Weak Antiinflammatory (twice required, takes weeks)
  41. Factor influencing the use of NSAIDs
    • Individual drug disease specificity
    • Individual may respond differently to different NSAIDs
    • Available liquid formulation
    • Combination of NSAIDs no beneficial effect
  42. Immunosuppresant drugs
    • Inhibtors of lymphocyte gene expression
    • Inhibitors of lymohocyte signalling
    • Cytotoxic agents
    • Cytokine inhibitors
    • Antibodies against specific immune cell molecules
    • Inhibitors of cell adhesions
    • Tolerogens
    • Miscellaneous: Anti D globulin
  43. Immunostimulants
    • BCG
    • Levamisole
    • Thalidomide
    • Recombinant cytokine
  44. Componenets of Management of JIA
    • Medical and Surgical Management
    • Family centered, Community based co-ordinated care
    • Psychological Care
    • Physical therapy Rehabilation
    • Well care issue like Growth and Development
    • Continuity of care
    • Cost effective
  45. Goals of therapy
    • Achieve disease remission
    • Prevent or halt joint damage
    • Fastering gowth and development
  46. Components of Management of Ambigious genitalia
    • 1. Assigment of Sex (Genetic/Gonadal/Phenotypical sex taken into consideration): Goal is to preserve fertility, ensure normal sexual function and concordant phenotypical ans psychological sex
    • 2. Medical management of Adrenal Crisis
    • 3. Surgical Management
    • 4. Steroid replacement therapy
    • 5. Psychosocial mangement
  47. Causes of Acute Liver Failure
    • Drugs/Toxin
    • Immune dysregulation
    • Metabolic Cause (Infant, Yound children, Older CHildren adolescent)
    • Infecttive (Hepatitis, Virus other than Hepatitis, Non viral)
    • Hypoperfusion
    • Others
  48. Large Vessel Vasculitis
    • Giant Cell(Temporal) Arteritis
    • Takayasu Arteritis
  49. Medium Vessel Vascultis
    PAN, Kawasaki, Buerger
  50. Small Vessel Vascultis
    • Granulomatosis with Polyangitis (Wegener)
    • Microscopic Polyangitis
    • Granulomatosis with Polyangitis (Churg Strauss)
    • HSP
  51. Immunodeficiency Workup In
    • Infant/Children who have clinical manifestation of a specific Disorder
    • In all who have a family history of early infant death or a immunodeficiency disorder
    • UNUSUAL, CHRONIC OR RECURRENT INFECTION
    • (1) 1 or more systemic bacterial infections (sepsis, meningitis)
    • (2) 2 or more serious respiratory or documented bacterial infections (cellulitis, abscesses, draining otitis media, pneumonia, lymphadenitis) within 1 yr
    • (3) serious infections occurring at unusual sites (liver,
    • brain abscess)
    • (4) infections with unusual pathogens (Pneumocystis jiroveci, Aspergillus, Serratia marcescens, Nocardia, Burkholderia cepacia)
    • (5) infections with common childhood pathogens but of unusual severity
    • OTHERS: FTT with/without diarrhoea, Persistent infection after receiving live vaccine, Chronic oral or cutaneous moniliasis
  52. Intestinal Malabsorption: General Mucosal Defect
    • Mucosal Defect
    • Protein Losing enteropathy
    • Congenital Bowel Mucosal Disorders
    • Immunodeficiency Disorders
    • Autoimmune Enteropathy
    • Infective
    • Miscellaneous
  53. Intestinal Malabsorption: Speicific nutrient malabsorption
    • Carbohydrate Malabsorption
    • Fat Malabsorption
    • Protein/Aminoacid enteropathy
    • Mineral or Vitamin Malaborption
    • Drug Induced Malabsorption
  54. ECMO: Types
    • Veno-Venous ECMO
    • Venoarterial ECMO
    • CPR ECMO
    • Ex-Utero Intrapartum Treatment ECMO
  55. ECMO Machine
    • Circuit
    • Membrane Oxygenatory device Silicone Based
    • Pump
  56. TST False Negative
    • Very Young Age
    • Malnutrition
    • Immunosuppression by Disease or Drugs
    • Viral Infection
    • Live Vaccine
    • Overwhelming TB
  57. TST False Positive
    • Previous BCG
    • Non Tuberculous Mycobacteria
  58. TB in HIV
    • 30 times more common in HIV
    • TST Negative
    • More Severe, Extrapulmonary TB
    • TB worsen HIV By inc. Viral Replication and dec. Immunity CD4, So patient dies rather with HIV than TB
  59. Transmission of TB
    • AFB Positiveness
    • Forcefulness cough
    • Thin watery sputum
    • Cavity
    • Poor Ventilation.
    • IN CHILDREN, ORGANISM LESS, LESS FORCEFULNESS AND LESS CAVITY SO UNLIKELY TRANSMISSION
    • ATT- 2 WEEK REQUIRED FOR BECOMING NONTRANSMITTOR
    • MILIARY + CNS: 3-6 MONTH
    • LN + ENDOBRONCHIAL: 6-9 MONTH
    • BONE: YEARS
    • RENAL TB: DECADES
  60. PROGNOSIS IN CNS TB
    • RECOVERY IS A RULE IN STAGE 1
    • STAGE 2: 20-25% MORTALITY, AMONG SURVIVORS 25% HAVE NEUROLOGICAL DEFICIT
    • STAGE 3: 50% MORTALITY AND ALL SURVIVORS HAVE SEVERE NEUROLOGICAL SEQUELAE
  61. PROGNOIS IN CNS TB
    • CLINICAL STAGE
    • TIME OF INITIATION OF ATT
    • YOUNGER AGE
  62. ADVANTAGE OF IGRA
    • NOT DEPENDENT ON BCG
    • NOT POSITIVE TO NTB
    • SINGLE CONTACT WITH PATIENT
  63. Causes of Protein Losing enteropathy
    • Mucosal Injury(Inflammatory and ulcerative(IGN), Non Inflammatory disease(CSF Eosinophil Monocyte)
    • Lymphatic abnormalities
  64. Chronic liver failure
    • Viral
    • Cytomegalovirus
    • Rubella
    • Herpes simplex
    • Hepatitis B
    • Delta hepatitis
    • Enterovirus
    • Bacterial
    • Syphilis
    • Metabolic/Genetic
    • Alpha-1-antitrypsin deficiency
    • Galactosemia
    • Fructosemia
    • Tyrosinosis
    • Glycogen storage disease type 3, 4
    • Niemann-Pick disease
    • Wolman disease
    • Idiopathic
    • Neonatal hepatitis
    • Familial intrahepatic cholestasis
    • Biliary tree abnormalities
    • Extrahepatic biliaryatnesia
    • Arteniohepatic dysplasia
    • Intrahepatic duct paucity
    • Choledochal cyst
    • Vascular
    • Congestive cardiac failure
    • Constrictive penicarditis
    • Veno-occlusive disease
    • Budd-Chiani syndrome
    • Toxic
    • Parenteral nutrition
  65. General Principle of management
    • Treat Reversible Kidney dysfunction
    • Prevent or slow the progression of Kidney disease
    • Treat the complication of CKD
    • Identify and adequately prepare the child/family in whom renal transplant will be required
  66. Complication in CKD
    • Fluid and electrolyte imbalance
    • Malnutrition
    • Growth retardation
    • CKD - Mineral bone disease
    • Hypertension
    • Hyperlipidemia
    • Immunization
    • Bleeding diathesis
    • ESRD
  67. Management of CKD-MBD
    • Avoid high phosphorous containing foods
    • Phosphate binders
    • Vitamin D2
    • Calcitriol
    • Vitamin D analogues
    • Calcimimetic agent
    • Para-thyroidectomy
  68. Non REM Sleep
    Sleep walking, Night terror, Bed wetting
  69. REM Sleep
    Dreaming, Night mares, Penile/Clitoral tumescence
  70. Chlidren Vulnerable for sleep disorder
    • Chronic Illness
    • Acute Illness
    • Medication/Ingesting Substances
    • Psychiatric Illness
    • Neurodevelopmental disorder
  71. Sleep disorders
    • (@POINDeR)
    • Parasomnia
    • Obstructive Sleep Apnoea Syndrome
    • Insomnia of childhood (Sleep Onset Association type)
    • Narcolepsy (Cataplexy, Hypogogic/Hypnopompic Hallucination)
    • Delayed Phase Disorder
    • Restless leg Syndrome(AIMS)
  72. Obstructive Sleep Apnoea Syndrome
    • Apnoea or Hyponoea(>30% reduction in airflow accompained by >3% O2 saturation)
    • Polysomnography (Apnoea Hyponoea Index)
    • Alternative testing: Nocturnal Video testing, Nocturnal Oximetry
    • Adenotosillectomy
    • Other treatment (Wt loss, Positional therapy, Steroid for additional risk factor, Uvulopalatoplasty and Maxillofacial Surgery, BPAP)
  73. Function of Microbiota (D3M SICk)
    • Digestion of Complex plant and animal origin nutrients to medium chain fatty acids, Vit B12 and Vitamin K
    • Competitive inhibition of pathogen colonization
    • Early satiety and behaviour d/t brain gut microbe axis
    • Influence the inflammatory tone including the ratio of pro and inflammatory cytokines
    • Metaolic disease like Obesity, DM and IBD linked to microbiome
    • Disease like NEC and Clostridium difficle infection has been linked to Dysbiosis of microbiota
    • Dysbiosis microbiota and neurobehavioural problem like Autism linked
  74. Clinical Implication of Microbiota
    • Microbie-Microbe Interaction(BACTEROCIN)
    • Microbe-Host Interaction(IBD,IBS,other immine disease JIA, Analgesic properties, MCT & Vit B12, Pro & Prebiotics)
    • Genetically engineered organism host interaction
  75. GnRH analogue
    • Leuprolide
    • Triptorelin
    • Goserelin
    • Buserelin
    • Histerelin
    • Nafarelin
  76. Properties of HFOV
    • Rapid Rate
    • Low tidal volume
    • Maintain open lung
    • Minimal volume swings
  77. Indication of HFOV
    • Failure of conventional ventilation in term infants (PPHN,MAS)
    • Airleak syndromes(Pneumothoraz, Interstitial emphysema)
    • Failure of conventional ventilation in term infants (Severe RDS, Pulmonary hypoplasia or to reduce barotrauma when settings are high)
  78. Diagnosis of Muscular Dystrophy
    • Serum Enzymes (CPK, Aldolase, AST)
    • Electromyography
    • Molecular Genetic Markers(Dystrophin gene, Emerin gene, DNA analysis of CTG Expansion)
    • Muscle Biopsy (Vastus lateralis f/b gastrocnemius Chasatcterstic change can be seen, Immunohistochemistry)
    • Cardiac assessment(Cardiomyopathy in DMD, Heart block and Arrythmia in Myotonic Dystrophy)
    • MRI Brain(Congenital Myopathies have structural lesion)
  79. Seizure treatment
    • Sodium Channel
    • Calcium Channel(T type, N type, L type)
    • NMDA+AMPA(Felbamate+ Topiramate)
    • GABA agonist
    • SVZA- Levetiracetam
  80. Precocious Puberty
    • Central(Idipathic, CNS Abnormalities(Cong. Anomalies, Acqd. Lesion, CNS Tumor), Hypothyroidism)
    • Peripheral(Male: Isosexual/Heterosexual, Female:Isosexual/Heteroexual(Drugs, Gonads, Adrenal))
  81. Autism
    • Persistent deficits in social communication and social behaviour across multiple contexts
    • Restricted Repetitive patterns of behaviour, interests or activities
    • Symptoms present in early developmental period
    • Symptoms cause clinically significant impairment in social, occupational or other important areas
    • These disturbances not better explained by intellectual disability or GDD
  82. C/F of Autism
    • Spoken Launguage
    • Responding to others
    • Interaction to Others
    • Eye contact, Pointing and Gestures
    • Reduced or absent imagination and pretend play
    • Restrictive, Repetitive pattern of Behaviour
  83. Severe Acute Malnutrition
    • Wt for height <-3
    • Visible severe wasting
    • Presence of B/L pedal edema
    • MUAC <11.5 cm
  84. Management of Malnutrition
    • Hypoglycemia
    • Hypothermia
    • Dehydration
    • Electrolyte Disorders
    • Infections
    • Micronutrients
    • Initiate Feeding
    • Catch up Growth
    • Sensory Stimulation
    • Prepare to followup
  85. Criteria for Discharge
    • Child is active and alert, eating atleast 125-130kcal/kg.day with a constant weight gain of 5gm//kg/day for 3 consecutive days on exclusive feeding
    • Child is receiving adequate micronutrients
    • Child is free from Infection
    • Had completed immunization appropriate for age
    • Care taker is sensitized at home
  86. Advantage of Resomal
    • In malnutrition, Sodium builds inside up inside cell d/t leaky cell membrane and reduced activity of NaK pump, leading to excess body sodium, fluid retention and edema
    • Potassiun leaks out of the cell and is excreted in urine, contributing to electrolyte imbalance
    • Dissolve one sachet of standard WHO low-osmolarity oral rehydration solution in 2 L water (instead of 1 L). Add 1 level scoop of commercially available combined minerals and vitamins mix1 or 40 mL of mineral mix solution and add and dissolve 50 g of sugar.
    • The reason for advocating a low sodium high potassium ORS in severe malnutrition is to prevent heart failure. The risk of sodium overload is particularly marked with kwashiorkor cases where research shows that heart failure can be induced with relatively low sodium intakes.
    • Other advantages of RESOMAL are that it has additional sugar and Magnesium, Zinc and Copper
  87. F75 diet
    • Starter Based (Requires no Cooking)
    • Lactose Based (Lower Osmolarity may be beneficial in children with Persistent diarrhoea)
  88. F75 vs F100 diet
    • Calorie(75 vs 100)
    • Protein(1.1 vs 2.9)
    • Lactose(1.3 vs 4.3)
    • Low sodium(0.6 vs 1.9)
  89. Refeeding Syndrome
    • Hallmark of Refeeding Syndrome is the development of Severe hypophosphatemia after the cellular uptake of phosphate during the first week of starting to refeed
    • When excessive CHO are given, the resultant increase in insulin may produce hypokalemia, hypophosphatemia and hypomagnesia
  90. Primary Immunodeficiency
    • B cell disorder: Xlinked agammaglobinemia, Selective IgA deficiency, Common varibale immunodeficiency
    • T cell disorder: Thymic Aplasia, IL-12 deficiency, Hyper IgE Syndrome, Chronic Mucocutaneous Candidiasis
    • B & T cell disorder: SCID, WAS, Ataxia telengiectasis,Hyper IgM Syndrome
    • Phagocyte dysfunction: LAD, Chediak Higashi Syndrome, CGD
    • Complement Disorder
  91. STEP 1
    • Intestinal Microbiology: Stool cultures, Microscopy for parasites, Viruses, H2 breath test
    • Screening Test for Celiac Disease: Serology according to age and level of IgA (including AGA IgA/IgG, EMA IgA/IgG, tTG IgA/IgG)
    • Noninvasive Tests for: Intestinal function (including double sugar test, xylosemia, ironabsorption test) Pancreatic function (amylase, lipase, fecal elastase)
    • Intestinal inflammation (fecal calprotectin, rectal nitric oxide)
    • Tests for Food Allergy: Prick/patch tests for foods
    • Abdominal Ultrasounds (Scan of Last Ileal Loop)
  92. STEP 2
    • Evaluation of Intestinal Morphology:
    • Endoscopy and standard jejunal/colonic histology*
    • Morphometry
    • PAS staining
    • Electron microscopy
    • Imaging (upper or lower bowel series, capsule endoscopy)
  93. STEP 3
    • Special Investigations:
    • Intestinal immunohistochemistry
    • Antienterocyte antibodies
    • Serum chromogranin and catecholamines
    • Autoantibodies
    • 75SeHCAT measurement
    • Brush-border enzymatic activities
    • Motility and electrophysiologic studies
  94. Mechanism of seizure
    • Underlying etiology (Tumor Stroke Malformation, Mutation of specific gene-SCNI A causing dravet syndrome)
    • Epileptogenesis(KINDLING: TEMPORAL LOBE EPILEPSY)
    • Epileptic state of increased excitablility(Paraoxysmal Depolarization shift)
    • Seizure mediated neuronal injury
  95. Common Abdominal and Pelvic Mass
    • Wilms Tumor
    • Neuroblastoma
    • Non-Hogdkin Lymphoma
    • Rhadbomyosarcoma
    • Germ Cell Tumor/Teratoma
    • Hepatoblastoma
    • Hepatoma
  96. Bone Tumors
    • Osteosarcoma (Metaohysis, Sunburst Pattern)
    • Ewing Sarcoma (Diaphysis of long bone, Onion peel Appearence)
  97. LEUKOCORIA
    • Retinoblastoma
    • Persistent hyperplastic primary vitreous
    • Coats Disease
    • Vitreous Haemorrhage
    • Cataract
    • Endophthalmitis from Toxocara Canis
    • Choroidal Coloboma
    • Familial Exudative Vitreoretinopathy
  98. Hepatitis B
    • After 1 month, first marker to come: HBsAg
    • Bad Guys will come: HBeAg and HBVDNA
    • Then come Ab: Care Ab IgM
    • Recover occur in 90% of case: HBeAg and HBVDNA goes first then HbsAg (Surface Ag 1st to come and last to go)
    • Window Period: Core Ab IgM
    • If Previously Infected with Hep B: Core Ab IgG and Surfave Ab IgG
    • If Vaccinated : Surface Ab IgG
    • Chronic Hepatitis(> 6 month): Infective carrier(HBeAg, HBV DNA), Healthy Carrier(Surface Ag Positive)
  99. Evaluation following first episode of UTI
    • < 1yr: USG, DMSA and MCUG
    • 1-5 yr: USG, DMSA, MCUG (If USG or DMSA is Abnormal)
    • >5 year: USG, If USG is abnormal do MCUG and DMSA
  100. grading of VUR
    • I: Reflux into the nondilated distal Ureter
    • II: Reflux into the upper collecting system in non dilated ureter
    • III: Reflux into dilated ureter
    • IV: Reflux into grossly dilated ureter
    • V: Massive Reflux with ureteral dilatation and tortousity and effacement of calyceal details
  101. Histiocytic Syndromes odf Childhood
    • LCH: Eosinophilic Granuloma, Letter Siwe disease, Hand Schuller Christian Disease
    • HLH: Familial, Infectious, Albinism, Immunocompromised, Autoinflmmatory/Autoimmune
    • Others: Rosai Dorfman Syndrome, Juvenile Xanthogranuloma, Malignant Histiocytosis, Acute Monocytic Leukemia)
  102. Treatment options for VUR
    • Observation: Behavioural Modification
    • Antibiotic Prophylaxsis: The risk of recurrent UTI is highest in patients with grade III or IV reflux, those with bowel and bladder dysfunction, and those whose first reflux associated UTI was febrile rather than just symptomatic without fever.
    • Surgery: VUR can be corrected through a lower abdominal or inguinal incision (open), laparoscopically (with or without robotic assistance)for ureteral reimplanatation, or endoscopically with subureteral injection(Bulking agent)
  103. VUR Key Points
    • The ureteral attachment to the bladder normally is oblique, between the bladder mucosa and detrusor muscle, creating a flap-valve mechanism that prevents VUR
    • In children with a febrile urinary tract infection (UTI), those with VUR are 3 times more likely to develop renal injury compared to those without VUR. Extensive renal scarring impairs renal function and can result in renin-mediated hypertension , renal insufficiency or end-stage renal disease, impaired somatic growth, and morbidity during pregnancy.
    • With bladder growth and maturation, the VUR grade often resolves or improves. The mean age at VUR resolution is 6 yr.
    • VUR is present at birth in 25% of children with neuropathic bladder, as occurs in myelomeningocele, sacral agenesis, and many cases of high imperforate anus. VUR is seen in 50% of boys with posterior urethral valves. VUR with increased intravesical pressure (as in detrusor–sphincter dyssynergia or bladder outlet obstruction)
    • In 2010 the American Urological Association Vesicoureteral Reflux Guidelines Panel stated that, in siblings of individuals with VUR, a VCUG or radionuclide cystogram is recommended if there is evidence of renal cortical abnormalities or renal size asymmetry on sonography, or if the sibling has a history of UTI.
    • VUR occurring during bladder filling is termed low-pressure VUR; VUR during voiding is termed high-pressure VUR. VUR in children with low-pressure VUR is significantly less likely to resolve spontaneously than in children who exhibit only high-pressure VUR.
  104. Sterile pyuria (positive leukocytes, negative culture)
    Partially treated bacterial UTIs, viral infections, renal tuberculosis, renal abscess, UTI in the presence of urinary obstruction, urethritis as a consequence of a sexually transmitted infection, inflammation near the ureter or bladder (appendicitis, Crohn disease), or interstitial nephritis (eosinophils)
  105. Diagnosis of UTI
    • If the culture shows >50,000 colonies of a single pathogen (suprapubic or catheter sample), or if there are 10,000 colonies and the child is symptomatic, the child is considered to have a UTI.
    • In a bag sample, if the urinalysis result is positive, the patient is symptomatic, and there is a single organism cultured with a colony count >100,000, there is a presumed UTI.
    • Leukocyte esterase test Leukocyte esterase (LE) is an esterase (a type of enzyme) produced by leukocytes (white blood cells). A leukocyte esterase test (LE test) is a urine test for the presence of white blood cells and other abnormalities associated with infection.
    • Nitrite test. A positive nitrite test indicates that the cause of the UTI is a gram negative organism, most commonly Escherichia coli. The reason for nitrites' existence in the presence of a UTI is due to a bacterial conversion of endogenous nitrates to nitrites
  106. Risk factor for UTI
    • Female gender
    • Uncircumcised male
    • Vesicoureteral reflux*
    • Toilet training
    • Voiding dysfunction
    • Obstructive uropathy
    • Urethral instrumentation
    • Wiping from back to front in
    • girls
    • Bubble bathTight clothing (underwear)
    • Pinworm infestation
    • Constipation
    • Bacteria with P fimbriae
    • Anatomic abnormality (labial
    • adhesion)
    • Neuropathic bladder
    • Sexual activity
    • Pregnancy
  107. Key Points of UTI
    • The 3 basic forms of UTI are pyelonephritis, cystitis, and asymptomatic bacteriuria.
    • According to the 2011 American Academy of Pediatrics (AAP) Clinical Guideline for children 2-24 mo, in children who are not toilet trained, a catheterized or suprapubic aspirate urine sample should be obtained
    • Children who are dehydrated, are vomiting, are unable to drink fluids, are 1 mo of age or younger, have complicated infection, or in whom urosepsis is a possibility should be admitted to the hospital for IV rehydration and IV antibiotic therapy.
    • The AAP recommends that in a typical first-episode of UTI, initial imaging should be ultrasonography of the kidneys, ureters, and bladder. VCUG is indicated if the ultrasound study is abnormal, the patient has atypical features, or after a recurrent febrile UTI In children with a history of cystitis, (dysuria, urgency, frequency, suprapubic pain), imaging is usually unnecessary. Instead, assessment and treatment of bladder and bowel dysfunction is important.
  108. Posterior fossa:
    • 1. Brainstem gliomas: 15%
    • 2. Medulloblastomas: 15%
    • 3. Ependymomas: 4%
    • 4. Cerebellar astrocytomas: 15%
  109. ICSOL Causes
    • Primary Brain tumors
    • Metastatic tumors
    • Masses of congenital origin
    • Brain abcess
    • Neurocysticercosis, tuberculoma
    • Subdural effusion
    • Hematoma
    • Lymphomas
  110. Brain Tumors
    • 1. Suprasellar/chiasmatic: optic glioma,craniopharyngioma,pituitary adenoma,prolacinoma,germinoma
    • 2. Pons: diffuse intrinsic pontine glioma, focal low/high grade glioma
    • 3. Pineal gland/midbrain: low/high grade glioma, pineocytoma, pineoblastoma, PNET
    • 4. Cerebellum: medulloblastoma, juvenile pilocytic astrocytoma, ependymoma
    • 5. Basal ganglia/thalamus: low/high grade glioma, germinoma
    • 6. Cortex: low/high grade glioma, ependymoma, PNET, oligodendroglioma
    • 7. Ventricular system: choroid plexus tumor, ependymoma
  111. Small Round Cell Tumor
    • Neuroblastoma
    • Ewing Sarcoma
    • Rhabdomyosarcoma
    • NHL
  112. Anorexia Nervosa
    • Two clinical types:
    • Restrictive:Not engaged in Binge eating/Purging
    • Binge eating/Purging type:Regularly engaged in Binge eating and purging
    • Characterized by:
    • Body Weight <85% of expected weight for age and height
    • Intense fear of becoming fat even though underweight
    • Disturbed body image and the denial that the body weight is low
    • In Postmenarchal girls, Amenorrhoea
  113. PANDAS Characterstic feature
    • Presence of OCD/Tics
    • Prepubertal age of Onset
    • Abrupt onset and Relapsing/Remitting Course
    • Associated with Neurological abnormalities(Chorea, hyperactivity, Tics) during exacerbation)
    • Temporal association between symptom exacrbation and GAS infection
  114. PSGN
    • Throat: M1, M4, M25, M12
    • Skin: M49
    • Age group: 5-12
    • 1-2 week after streptococcal throat infection
    • 3-6 week after streptococcal pyoderma
    • Acute Phase Resolve by 6-8 week
    • Urinary Protein & HTN resolve by 4-6 week
    • Microscopic Hematuria may persist for 1-2 year
    • C3 normalize by 6-8 week
    • ASO- Throat Involvement
    • Anti DNAase- Skin involvement
    • 10-20% Nephrotic syndrome
    • 10-50%: Transient ARF
    • 5% RPGN
    • Renal Biopsy: In the presence of Acute renal Failure, Nephrotic syndrome, absence of evidence of streptococcal throat infection or normal complement level. In addition, renal biopsy is considered when hematuria and proteinuria, diminished renal function, and/or a low C3 level persist more than 2 mo after onset.
  115. Sereum C3 decrease in
    • Systemic disease: Lupus, Subacute bacterial endocarditis, Shunt Nephritis, Essential Mixed Cryoglobulinemia, Visceral Abscess
    • Renal Disease: PSGN,MPGN
  116. RPGN Causes
    • PRIMARY
    • Type I: Anti–glomerular basement membrane antibody disease,
    • Goodpasture syndrome (with pulmonary disease)
    • Type II: Immune complex mediated
    • Type III: Pauciimmune (usually antineutrophil cytoplasmic antibodypositive)
    • SECONDARY
    • Membranoproliferative glomerulonephritis
    • Immunoglobulin A nephropathy, Henoch-Schönlein purpura
    • Poststreptococcal glomerulonephritis
    • Systemic lupus erythematosus
    • Polyarteritis nodosa, hypersensitivity angiitis
  117. LUPUS NEPHRITIS
    • Most common Being DPLN upto 50% followed by Focal Proliferative
    • Minimal Mesangial: Normal Glomeruli by LM, but mesangial deposits by IF
    • Mesangial proliferative: Purely mesangial hypercellularity of any degree or mesangial matrix expansion bt light microscopy
    • Focal proliferative: <50% of glomeruli involved with subendothelial deposits
    • Diffuse proliferative: >50% of glomeruli involved with subendothelial deposits
    • Membranous: Global or segmental subepithelial deposits
    • Advanced Sclerosing: >90% glomerulosclerosis
  118. Type III or IV LUPUS
    • Induction with prednisone for 4 weeks followed by tapering 4-5 years
    • May be preceded by iv methyprednisolone for 3 days if severe renal insufficiency
    • Plus cyclophosphamide every month for 6 month
    • Maintainance; tapering dose of prednisone, IVCLY every 3 month for 18 months or use of AZA OR MMF
  119. Hematuria
    • False negative results: Presence of formalin (used as a urine preservative) or high urinary concentrations of ascorbic acid (i.e., in patients with vitamin C intake >2000 mg/day).
    • False-positive results: Alkaline urine (pH > 8), or more commonly following contamination with oxidizing agents such as hydrogen peroxide use to clean the perineum before obtaining a specimen.
  120. Proteinuria
    • Negative, trace (10-29 mg/dL)
    • 1+ (30-100 mg/dL)
    • 2+ (100-300 mg/dL)
    • 3+ (300-1000 mg/dL)
    • 4+ (>1000 mg/dL).
    • False-positive result: High urine pH (>7.0), a highly concentrated urine specimen, or contamination of the urine with blood.
    • False-negative test: Dilute urine or a large volume of urine output or in disease states in which the predominant urinary protein is not albumin.
  121. Steroid Relapser or Steroid Dependent Nephrotic Syndrome(Other steroid sparing agent started once pt develop side effect of steroid)
    • Corticosteriod therapy
    • Levamisole and Steroid on alternate day for 12 month
    • Cyclophosphamide for 12 week(Start once the chuld had develop remission on steroid)
    • Calcineurin inhibitor: Cyclosporine and Tacrolimus
    • MMF
    • Rituximab
    • Mizoribine
  122. Steroid resistent nephrotic syndrome
    • Calcineurin inhibitors: (Cyclosporine or Tacrolimus)
    • Low dose steroid to be continued with Calcineurin
    • Add ACEI/ARBs
    • If Fail to Respond: MMF, High dose steroid or combination of these agents. NO CYCLOPHOSPHAMIDE
  123. Type I RTA
    • Distal
    • Cant excrete Hydrogen ion
    • Urine Basic >5.4
    • Nephocalcinosis and Nephrolithiasis
    • Treatment Give HCO3 as proximal tubule is intact to reabsorp HCO3
  124. Indication of liver transplant
    • ◆ Obstructive biliary tract disease: biliary atresia, sclerosingcholangitis, traumatic or postsurgical injury
    • ◆ Metabolic disorders: α1-antitrypsin deficiency, tyrosinemia type I,glycogen storage disease type IV, Wilson disease, neonatal hemochromatosis, Crigler-Najjar type I, familial hypercholesterolemia, primary oxalosis, organic academia, urea cycle defects
    • ◆ Acute hepatitis: fulminant hepatic failure, viral, toxin, or drug induced
    • ◆ Chronic hepatitis with cirrhosis: hepatitis B or C, autoimmune
    • ◆ Intrahepatic cholestasis: idiopathic neonatal hepatitis, Alagille syndrome, progressive familial intrahepatic cholestasis
    • ◆ Miscellaneous: cryptogenic cirrhosis, congenital hepatic fibrosis, Caroli disease, cystic fibrosis, polycystic kidney and liver disease,
    • cirrhosis induced by total parenteral nutrition
    • ◆ Primary liver tumors: benign tumors (hamartomas, hemangioendothelioma), unresectable hepatoblastoma, and hepatocellular carcinoma
    • ◆ Emerging indications: graft-versus-host-disease (a complication of bone marrow transplantation), hemophilia, and portosystemic shunts
  125. Sustainable deveopment goals
    • The sustainable development agenda has been under global discussion over the past three decades. The SDGs were first formally discussed at the United Nations (UN) Conference on Sustainable Development in Rio de Janeiro in June 2012 (Rio+20), and then in the UN General Assembly (UNGA) in September 2014.
    • As the SDG goals and targets are being negotiated and agreed in the UNGA in September 2015, their indicators and implementation strategy are yet to be worked out
    • The Sustainable Development Goals (SDGs), otherwise known as the Global Goals, are a universal call to action to end poverty, protect the planet and ensure that all people enjoy peace and prosperity.
    • These 17 Goals build on the successes of the Millennium Development Goals
    • 1. No Povety
    • 2. Zero Hunger
    • 3. Good Health and well being
    • 4. Quality Education
    • 5. Gender Equality
    • 6. Clean water and Sanitation
    • 7. Affordable and clean energy
    • 8. Descent work and economic development
    • 9. Industry, Innovation and Infrastucture
    • 10. Reduced Inequalities
    • 11. Sustainable cities and Communities
    • 12. Responsible consumption and production
    • 13. Climate Action
    • 14. Life below water
    • 15. Lifer on land
    • 16. Peace, Justice and strong institution
    • 17. Partnership for goal
  126. Cause of Neonatal Hepatits
    • Neonatal hepatitis
    • Disorder of transport conjugation, synthesis of bile acids(PFIC)
    • Disorder of embryogenesis(Bile duct paucity)
    • Biliary atresia
  127. Neonatal Hepatits
    • Male
    • Family 20%
    • Preterm/SGA baby
    • Trnasient acholic
    • No other manifstation
  128. Investigation for Neonatal cholestasis
    • USG: Choledochoithiaisis, Perforation of Bile duct, Choledochal cyst, Traingular Cord Sign (Biliary Atresia)
    • Hepatobiliary Scintiagraphy: Sensitive but not specific, Takes 5 day
    • Biopsy: Giant Cell Hepatitis(Nepanatal Hepatitis), Dilatation and hyperplasia of canaliculi
  129. Drugs in Hepatitis B
    • Interferon alpha 2B
    • Lamivudine
    • Adefovir
    • Entecavir
    • Tenofovir
    • Peginterferon-alpha2
  130. Goal of treatment in Hep B and Hep C
    • Hep B: Reduced Viral replication as undetectable HBVDNA and development of Anti HBeAb
    • Hep C: Treatment response by HCV DNA
  131. Diagnosis of Coeliac Disease
    • Step 1: Anti TTG and Total IgA, Anti gladin A
    • Step 2: Depend on Anti TTG level to go either for Biopsy ang Test for HLA, EMA
  132. Element of community based therapeutic care of SEM
    • Community mobilization and Sensitization
    • Active case finding
    • Therapeutic care
    • Follow up after discharge
  133. C/I of Renal Transplant
    • Presence of Acute infection
    • Untreated malignancy
    • Chronic hepatitis Infection
    • Progressive neurological illness
    • Condition such as HIV and chronic Hep C are relative contraindication
  134. RUTF
    • Soft crusable food provided dor rehabilating children with SAM at home
    • A child will required 10-15 kg of RUTF over a periof of 6-8 week
    • Has nutrition similiar to F-100 diet but RUTF is not water based meaning bacteria cannot be grown theerfore can be grown safely at home without refrigerator and in areas where hygiene is not optimal
    • Energy: 520-550kcal/100gm
    • Protein: 10-12%
    • Lipids: 45-60%
    • Moisture: 2.5%
  135. IMCI
    • ARI
    • Diarrhoea
    • Fever
    • Ear Problem
    • Malnutrition
    • Anemia
    • HIV Infection
    • Check for immunization, vitamin status, Deworming
    • Neonatal Illness
  136. Principle of densitization
    • Antibody depletion at time of densetization
    • Modulation of recipient immune system using IVIG
    • Reduction of B-lymphocyte pool by splenectomy recently anti-CD20 AB
    • Targeting Plasma cell with Bortezomib
    • Targeting Complement activation by Eclizumab
    • Powerful maintainence immunosuppression
  137. Ataxia
    • Congenital malformation: Dandy Walker, Chiari malormation, Encephalocele
    • Hereditary: Ataxia Telengiectasia, Freidreich, Abetalipoproteinemia, Vitamin E deficiency
    • Infectious: Ac.Cerebellar ataxia, Labrynthitis, Cerebellar abscess, ADEM
    • Tumors: Posterior lobe
    • Drug/Toxin: Anticonvulsant
    • Trauma
    • Vascular Malformation: AVM, Inracranial Haemorrhage
  138. Sensory Ataxia
    • Abetalipoproteinemia, Freidreich Ataxia
    • Romberg Sign positive, Posterior column feature
  139. Cerebellar Involvement
    • Vermis: Trucal and legs more involved, No speech involvement
    • Cerebellar Body: Weakness + Hypotonia
  140. Contraindications for an immediate LP include
    • (1) evidence of increased ICP (other than a bulging fontanel), such as 3rd or 6th cranial nerve palsy with a depressed level of consciousness, or hypertension and bradycardia with respiratory abnormalities
    • (2) severe cardiopulmonary compromise requiring prompt resuscitative measures for shock or in patients in whom positioning for the LP would further compromise cardiopulmonary function
    • (3) infection of the skin overlying the site of the LP.
  141. Duration of antibiotic therapy in meningitis
    • Therapy for uncomplicated S. pneumoniae meningitis should be for 10-14 days
    • Intravenous penicillin (300,000 units/kg/24 hr) for 5-7 days is the treatment of choice for uncomplicated N. meningitidis meningitis.
    • Uncomplicated H. influenzae type b meningitis should be treated for 7-10 days.
  142. Corticosteroid therapy in Meningitis
    Data support the use of intravenous dexamethasone, 0.15 mg/kg/ dose given every 6 hr for 2 days, in the treatment of children older than 6 wk with acute bacterial meningitis caused by H. influenzae type b.
  143. Hearing loss in Meningitis
    • The most common neurologic sequelae include hearing loss, cognitive impairment, recurrent seizures, delay in acquisition of language, visual impairment, and behavioral problems.
    • Sensorineural hearing loss is the most common sequela of bacterial meningitis and, usually, is already present at the time of initial presentation. It is a result of cochlear infection and occurs in as many as 30% of patients with pneumococcal meningitis, 10% with meningococcal, and 5-20% of those with H. influenzae type b meningitis.
  144. A number of possibilities must be considered when a patient does not improve with appropriate antibiotic therapy:
    • (1) complications, such as empyema
    • (2) bacterial resistance
    • (3) nonbacterial etiologies such as viruses or fungi and aspiration of foreign bodies or food;
    • (4) bronchial obstruction from endobronchial lesions, foreign body, or mucous plugs;
    • (5) preexisting diseases such as immunodeficiencies, ciliary dyskinesia, cystic fibrosis, pulmonary sequestration, or congenital pulmonary airway malformation, formerly called cystic adenomatoid malformation; and
    • (6) other noninfectious causes (including bronchiolitis obliterans, hypersensitivity pneumonitis, eosinophilic pneumonia, aspiration, and granulomatosis with polyangiitis, formerly called Wegener granulomatosis)
  145. Recurrent Pneumonia
    • 2 or more in a single year OR 3 or more ever with Radiological clearing in between
    • Hereditary Disorders
    • Disorders of Immunity
    • Disorder of Cilia
    • Anatomical Disorders
  146. Differetiation between transudate and exudate
    • Color
    • Cell Count
    • Cell type
    • LDH
    • Pleural fluid:serum LDH ratio
    • Protein >3gm
    • Pleural fluid:serum protein ratio
    • Glucose
    • PH
    • Gm Stain
    • Cholesterol
    • Pleural cholesterol:serum cholesterol ratio
  147. Reye Syndrome
    • Rapidly progressive encephalopathy
    • Gegins after several days after apparent recovery from viral illness, especially Varicella or Influenza A and Influenza B
    • Icterus is usually mild or absent
    • IEM associate with reye syndrome are MCAD deficiency, FAO defects
    • Death d/t increased ICT
    • If survive good outcome
  148. SIADH Criteria
    • Absence of:
    • Renal, adrenal, or thyroid insufficiency
    • Heart failure, nephrotic syndrome, or cirrhosis
    • Diuretic ingestion
    • Dehydration
    • Urine osmolality >100 mOsm/kg (usually > plasma)
    • Serum osmolality <280 mOsm/kg and serum sodium <135 mEq/L
    • Urine sodium >30 mEq/L
    • Reversal of “sodium wasting” and correction of hyponatremia with water restriction
  149. RESPIRATORY ACIDOSIS
    • Acute [HCO3−] increases by 1 for each 10 mm Hg increase in PCO2
    • Chronic [HCO3−] increases by 3.5 for each 10 mm Hg increase in PCO2
  150. RESPIRATORY ALKALOSIS
    • Acute [HCO3−] falls by 2 for each 10 mm Hg decrease in PCO2
    • Chronic [HCO3−] falls by 4 for each 10 mm Hg decrease in PCO2
  151. Criteria for referral for consideration of liver transplant after acetaminophen poisoning
    • Acidemia pH<7.3 after adequate fluid resusciatation
    • Coagulopathy INR>6
    • Renal Dysfunction Creatinine >3.4
    • Grade III or IV HE
  152. Goals of maintainence fluids
    • Prevent Dehydration
    • Prevent electrolyte disorders
    • Prevent ketoacidosis
    • Prevent protein degradation
  153. Criteria for diagnosing Hyperinsulism
    • 1. Hyperinsulinemia (plasma insulin >2 µU/mL)*
    • 2. Hypofatty acidemia (plasma free fatty acids <1.5 mmol/L)
    • 3. Hypoketonemia (plasma β-hydroxybutyrate <2.0 mmol/L)
    • 4. Inappropriate glycemic response to glucagon, 1 mg IV (change in glucose >40 mg/dL)
  154. Normal Lactate pyruvate ratio
    • GSD 1
    • Fructose 1,6 biphosphatase
    • Phosphoenolpyruvate carboxylase
    • Pyruvate Dehydrogenase
    • Diabetes mellitus
  155. Increased Lactate pyruvate ratio
    • Respiratory chain/Mitochondrial defects
    • Pyruvate carboxylase
    • Tissue hypoxia
  156. Level of Asthma control assessed by
    • Day time symptoms more than twice a week
    • Any night awakening d/t asthma
    • Reliever needed twice a week
    • Any activity limitation d/t asthma
  157. Cherry red spot
    • @MNS FG
    • Metachromatic leukodystrophy
    • Neimann Pick disease
    • Sialodosis III
    • Farber disease
    • GM1, GM2
  158. Degree of malnutrition by visceral protein
    S.Albumin, Prealbumin, Retinol Binding protein, Transferrin saturation, Serum Iron
  159. Epilepsy surgery
    • Cortical dysplasia, tuberous sclerosis,
    • polymicrogyria, hypothalamic hamartoma, Landau-Kleffner syndrome, and hemispheric syndromes, such as Sturge-Weber syndrome,
    • hemimegalencephaly, and Rasmussen encephalitis
  160. Epileptic surgery
    • Focal Resection of epileptic zone
    • Hemispherectomy: Diffuse hemisphere lesion
    • Multiple plial resection:Landau kleffner syndrome
    • Corpus callostomy: Lennox Gastaut syndrome
    • Vagus Nerve stimulation
  161. Alternative strategies to antiepileptics
    • Steroid
    • IVIG
    • Ketogenic Diet (3:1 or 4:1 fat:Nonfat)
    • Epileptic surgeries
    • Vagus nerve stimulation
  162. Dyskeratosis Congenita
    • Anemia
    • Dystrophy of thumb nails
    • Oral leukoplakia
    • Reticulate hyperpigmentation over neck and chest
  163. Type II Autoimmune hepatitis
    • Anti LKM Ab
    • Anti liver cytosol Ab
  164. Unconjuagted hyperbilirubinema
    • Gilbert syndrome
    • Criggler Najjer Syndrome
  165. COnjugated Hyperbilirubinemia
    • Dubin Johnson Syndrome
    • Rotor Syndrome
  166. BiPAP
    Used in NM disease, Give pressure in both phase of respiration
  167. Characterstics oF multifactorial inheritence
    • Similiar rate of recurrence in all 1st degree relative
    • Risk of recurrence is related to the incidence of disease
    • Sex prediction unequal between male and female (CDH, Hypertrophic pyloric stenosis)
    • Identical twin will be affected with malformation is less than 100%
    • Risk of recuurence increased when multiple family member are affected
    • Risk of recuurence increased when disorder is more severe
  168. Treatmen of Genetic Disorders
    • Physiological therapies(Dietarymodification, Coenzyme supplementation, Stimulation for alt pathways, Biphosphate)
    • Replacement therapies(Enzyme replacement, Transplant)
  169. Enzyme replacement
    • Cystic fibrosis
    • Gaucher disease
    • Fabry disease
    • Mucopolysachharidosis
    • Neimann Pick disease type C
    • Pompe disese
  170. 4 situation in which counselling of genetic counselling is important
    • Prenatal Diagnosis
    • Child born with a life threatening disorder
    • Later in life, when diagnosis with genetic implication is made
    • The fourth situation is counselling prior to genome sequencing where the family is given options of what they want reported back to them (actionable, nonactionable incidental findings vs. a specific diagnosis)
  171. Disease of Multifactorial Inheritence
    • Height, Hypertension, DM
    • Neural tube defects, Cleft lip/Palate
    • Hirschprung disease, Duodenal Atresia
    • Congenital Dislocation of Hip
    • Bronchial Asthma
    • DM, HTN, CAD
  172. Functional Abdominal Pain – not otherwise specified
    • Must be fulfilled at least 4 times per month and include all of the following:
    •  1. Episodic or continuous abdominal pain that does not occur solely during physiologic events (eg, eating, menses)
    •  2. Insufficient criteria for IBS, FD, or abdominal migraine
    •  3. After appropriate evaluation, the abdominal pain cannot be fully explained by another medical condition
    • Criteria fulfilled for at least 2 months prior to diagnosis
  173. The four main types of organic acidemia are:
    methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease
  174. Urea Cycle defect
    • CPS I Deficiency
    • OTC deficiency
  175. FAO defect
    MCAD, VLCAD def, Carnitine deficiency
  176. MCAD Deficiency
    AR, Hypoketotic hypoglycemia,No metabolic acidosis, Episodes associated with fasting
  177. Down Syndrome: disease that occurs less than general population
    • Behaviour Problem
    • Solid Tumor
    • Ischaemic Heart Disease
    • Social development is particularly good in Down Syndrome
  178. VUR that resolve on its own
    • Early age of diagnosis
    • U/L VUR
    • High pressure/Active Reflux
  179. VUR Antibiotic Prophylaxsis
    • Age <1 year
    • Bladder and Bowel Dysfunction
    • Breakthrough UTI
  180. ADPKD
    • Intracranial Aneurysm
    • MV Prolapse
  181. ARPKD
    • Renal finding
    • Hepatic finding i.e cirrhosis
  182. Noonan SYndrome
    • Features common to Noonan syndrome include short stature, low posterior hairline, shield chest, congenital heart disease, and a short or webbed neck.
    • In contrast to Turner syndrome, Noonan syndrome affects both sexes and has a different pattern of congenital heart disease, typically involving right-sided lesions.
  183. Klinefelter Syndrome
    • The greater the aneuploidy, the more severe the mental impairment and dysmorphism
    • Those who have higher X chromosome counts show impaired cognition. It has been estimated that each additional X chromosome reduces the IQ by 10-15 points, when comparing these persons with their normal siblings.
    • The main effect is seen in language skills and social domains
  184. Programs by MOH for control of Infectious disease
    • Expanded Programme in Immunization
    • CBIMNCI
    • PMTCT
    • National TUberculosis Program
    • National Malaria Program and other vector borne disease(Kala-azar)
    • Programs thad indirectly impact infectious disease(Maternal and child care program which prevents breast feeding, Vitamin and Albendazole Program, 1000 golden days program)
  185. Management of PPHN
    • General Supportive Care
    • Increase Arterial PaO2
    • In UnsucessfulNormal or Alkaline pH Can be achieved by NaHCO3 and Tromenthanine
    • Tolazoline: Non Selective alpha adrenergic antagonist
    • For Myocardial Dysfunction
    • HFOV
    • Inhale NO
    • ECMO
    • Surfact doesnot appear effective in PPHN, however it should be considered in other disease predisposing to PPHN
  186. Composition of Meconium
    • Water: 80%
    • Desquamated cells fron GI and Skin
    • GI Mucin
    • Lanugo hair
    • Fatty material from vernox caseoa
    • Amniotic fluid
    • Intestinal Secretion
    • Blood Specific glycoproteins
    • Bile and enzyme including Phospholipase A2
  187. Tourette Syndrome
    • Onset before 18 yr of Age
    • Characterized by sudden, rapid, recurrent, nonrhythmic, stereotype motor and vocal tics that persists for >1 yr
    • Coprolalia present in 10-20% of cases
    • Associated with OCD and ADHD
  188. Rules of Development
    • Continous process in orderly Manner
    • Development depends on functional maturation of the CNS
    • Sequence of development is same in all children
    • Cephalocaudal Direction
    • Certain primitive reflexes to be lost before relevant milestone are attained
    • Initial Disorganised mass activity gradually replaced by specific and willful action
  189. Feature of Autoimmune Hepatitis
    • Female Gender
    • Primary elevation in Transaminase not ALP
    • Elevated Gamma-Globulin
    • Presence of Auto Antibody (Tyoe II: Anti LKM, Anti liver cytosol)
    • Characterstic histologic findings
  190. DSM-5 for ADHD
    • Behaviour must be developmentally inappropriate
    • Must begin before 12 yr of age
    • Must be present for at least 6 months
    • Must be present in 2 or more setting and reported as much by independent observer
    • Must not be secondary to another disorder
  191. ARDS Berlin Criteria
    • Timing
    • Chest Xray on Tomography
    • Origin of Edema
    • Oxygenation
  192. NEC Risk factors
    • Multifactorial
    • Immature Gut Function
    • Formula feeding
    • Bacterial Dysbiosis
    • Hyperinflammatory host response
  193. NEC Prevention
    • Antenatal Steroid
    • Standarilized enteral feeding
    • Exclusive human milk
    • Avoidance of acid blockade
    • Minimization of antibiotic exposure
  194. Mechanical Ventilation
    • PaO2 <60 mm Hg
    • PaCO2 >60
    • pH < 7.25
    • Fatigue and impending exhaustion
    • Cardiogenic Shock to decrease left ventricular outflow
    • Respiration unreliable(Unconscious, NM Dysfunction)
    • Deliberate hyperventilation in case of increased ICP
  195. Phases of Ventilation
    • (1) initiation of respiration and a variable that is controlled, often referred to as mode;
    • (2) inspiratory phase characteristics, which determine the duration of inspiration and how the pressure or volume is delivered;
    • (3) termination of inspiration, often referred to as cycle; and
    • (4) expiratory phase characteristics.
  196. Pressure Control vs Volume Control
    • Control Setting
    • Machine delivered volumne
    • Inflation pressure
    • ET leak
    • Distribution of ventilation
    • Patient Comfort
    • Weaning
  197. Management of DKA
    • Correction of Dehydration
    • Treat acidosis and ketosis
    • Restore Blood glucose to normal Value
    • Identify Complication and treat DKA
    • Identify and treat Precipitating Agent
  198. Duodenal Atresia
    • Is usually Single
    • Is due to failure of Recanalization
    • Occurs in conjugation of other anomalies like CHD, Renal Anomalies, Annular Pancreas
    • Abdomen not distended
  199. Neurocysticercosis
    • Parechymal, Intraventricular, Subarachnoidal, Spinal Ocular
    • MRI: Cyst location, viability and associated inflammatin
  200. Hypoglycemia in children
    • Accelerated starvation (ketotic hypoglycemia)
    • Hyperinsulinism
    • Hormonal Deficiency
    • Disorder of CHO metabolism
    • Disorder of fatty acid metabolism and ketone synthesis
    • Disorder of protein metabolsm
    • Liver disease
    • Infections
    • Drugs
    • Miscellaneous
  201. Thyroid Disorders
    • Hypothyroidism
    • Goiters
    • Thyroiditis
    • Hyperthyroidism
    • Thyroid cancer
  202. Primary Hypothyroidism
    • Defect of fetal thyroid development (dysgenesis)(80 - 85%)
    • Defect in thyroid hormone synthesis (dyshormonogenesis) (15%)
    • TSH unresponsiveness
    • Defect in thyroid hormone transport: mutation in monocarboxylate transporter 8 (MCT8) gene
    • Resistance to thyroid hormone
    • Maternal antibodies: thyrotropin receptor–blocking antibody (TRBAb)
    • Iodine deficiency (endemic goiter)
    • Maternal medications(Amidarone,Iodide)
  203. Secondary or Tertiary Hypothyroidism
    • Malformation: Septo-Optic Dysplasia, Holoprosencephaly
    • CNS Insults: Trauma, Surgery, Radiation, Infection
    • CNS Tumors: Craniopharyngioma, Germinoma
  204. Evaluation of hypothyroidism
    • Child with high TSH should include
    • Evaluation of radionuclide uptake
    • Thyroid ultrasound to conform presence of thyroid gland
  205. Acquired Hypothyroidism
    • Autoimmune: Hashimoto thyroiditis, (APS-1(HAM), APS-2)
    • Drug-induced
    • Excess iodide, anticonvulsants, antithyroid drugs, lithium, interferon alfa, stavudine
    • Postablative Irradiation , radioiodine, thyroidectomy
    • Systemic infiltrative disease Cystinosis , Langerhans cell histiocytosis
    • Hemangiomas (large) of the liver
  206. MRI in Seizure
    • Child with significant/Motor impairment of uknown causes
    • Symptoms- Neurological symptoms
    • Signs of Neurological deficit
    • Focal Seizure with/without secondary generalization
    • EEG Ab(N) exceot Beningn partial epilepsy or Primary generalised epilepsy
    • Age <1 yr
  207. MRI in Headache
    • Age < 6 yr
    • Any neurological deficit in symptoms or symptoms
    • Headache awakening from sleep
    • Vomiting
    • Headache improved in certain posture
    • Headache increased in coughing/leaning forward
    • Occipital Headache
    • Seizure
    • Aura <5 min / >60 min
  208. Febrile Seizure
    • 6-60 month
    • T > 38* C
    • Not result of CNS Infection/Metabolic Causes
    • Absence of Prior afebrile Seizure
  209. First tier of therapy
    • Sedation, Analgesia and Elevation of Head
    • Neuromuscular Blockade
    • CSF drainage
    • Hyperosmolar therapy
  210. Second Tier of therapy
    • Barbiturate infusion
    • Induced hypertension
    • Decompressive craniectomy
    • Mild hypothermia
    • Hyperventilation
  211. MRI in spine lesion
    • >5 mm deep
    • >25 mm away from anal verge
    • Lipoma
    • Hemangioma/Telengiectasia
    • Skin tag/Tail
    • Scar
    • Sinus
  212. Brain Abscess Apsiration
    • < 2 cm
    • < 2 week
    • No sign of increased ICT
    • Neurologically intact
  213. Brain abscess Operation
    • >2.5 cm
    • Air huna paryo
    • Occipital
    • Loculation/Septation
    • Fungus<1 yr
  214. Brain Abscess Poor Prognosis
    • <1 year
    • Multiple abscess
    • Coma
  215. Epileptic Encephalopathies
    • Early myoclonic encephalopathy and Otohara Syndrome
    • West Syndrome
    • Dravet Syndrome
    • Lennox Gestaut Syndrome
    • Landau Kleffner Syndrome
    • Epilepsy with continous spike wake during slow wake sleep
  216. Partial Seizure
    • Simple partial Seizure (Jacksonian March, Todds paralysis)
    • Complex Partial Seizure (Aura, Automatism)
    • Partial Seizure with secondary generalisation
    • Beningn epilepsy syndrome with parial seizue (BECTS)
    • Severe epilepsy syndrome with partial Seizure
  217. Generalised Seizure
    • Absence Seizure (No Aura, Only 5-15 secs, No Post ictal confusion)
    • Generalised Motor Seizure
    • Beningn Generalised Epilepsy (Beningn Myoclonic, Juvenile Myoclonic Seizure)
    • Severe Generalised Epilepsy
  218. Candidacy for surgery
    • Properly defined epileptogenic zone
    • Proof of resistance to AED
    • Absence of expected unacceptable adverse consequences of surgery
    • Refractory epilepsy- due to cortical dysplasia, tuberous sclerosis, polymicrogyria, hypothalamic hamartoma, hemispheric syndromes, sturge-Weber syndrome,
  219. Triphasic illness of GBS
    • An acute phase-1 and 4 weeks after a respiratory or diarrheal illness.
    • A plateau phase of variable length
    • A recovery phase that can take weeks to months.
  220. GBS Features
    • Symmetrical Weakness
    • Hyporeflexia or Absent reflexes
    • Gait abnormality
    • Pain
    • Cranial Nerve dysfunction
    • ANS dysfunction
    • Upper extremity weakness
    • Respiratory Compromise
  221. NCV in GBS
    • AIDP: Prolonged distal latencies, conduction velocity slowing, and evidence of conduction block
    • In the axonal forms (AMAN, AMSAN, and MFS), there is sign of reduced amplitude
  222. Minor risk factor for Febrile seizure recurrence
    • Family history of febrile seizure
    • Family history of epilepsy
    • Complex febrile seizure
    • Daycare
    • Male gender
    • Lower serum sodium at time of presentation
  223. Major risk factor for febrile seizure recurrence
    • Age <1yr
    • Duration of fever <24hr
    • Fever 38-39oC (100.4-102.2oF)
  224. Mechanism of Antiepileptic drugs
    • Voltage-gated sodium channels blockers- felbamate, valproate, topiramate, carbamazepine, oxcarbazepine, lamotrigine, phenytoin
    • T-type calcium channels blockers - valproate, zonisamide, and ethosuximide
    • Voltage-gated calcium channel inhibitors- gabapentin, pregabalin, lamotrigine, and felbamate
    • N-type calcium channel inhibitor- levetiracetam.
    • GABA A receptor activator- phenobarbital, benzodiazepines, topiramate, felbamate, and levetiracetam.
  225. Clinical Features of Thalassemia
    • Direct effects
    • - deleterious effects of the profound anemia
    • - byproducts of hemolysis
    • - intramedullary and extramedullary expansion of erythroid marrow progenitors
    • Indirect effects
    • - end-organ damage due to iron overload either from blood transfusions or accelerated iron turnover
    • - blood-borne infections
    • - progressive diversion of caloric resources to bone marrow expansion.
  226. Indication of Chelation therapy
    • After 1 yr of transfusion therapy
    • After 10 to 20 transfusions
    • Serum ferritin more than 1000 ng/ml
    • Liver iron concentration of >2,500 μg/g dry weight
  227. Splenectomy in B-thalassemia
    • Who require more than 200-250 mL/kg of PRBC per year to maintainHblevel of 10 g/dL
    • Symptoms such as left upper quadrant pain or early satiety.
    • Massive splenomegaly causes concern about possible splenicrupture
    • Leucopenia or thrombocytopenia due to hypersplenism causes clinical problems
    • Pneumococcal, h.influenzatype B,meningococcal vaccine 6-8 wks prior given
    • Increased risk of venous thrombosis, pulmonary hypertension, leg ulcers, and silent cerebral infarction
  228. Outcome and prognosis after HSCT and addresses 3 elements:
    • (1) degree of hepatomegaly,
    • (2) presence of portal fibrosis in liver biopsy sample, and
    • (3) effectiveness of chelation therapy prior to transplantation
  229. Others treatment of Thalassemia
    • ALLOGENEIC STEM CELL TRANSPLANTATION
    • Gene therapy
    • Splenectomy
    • Hydroxyurea
    • Hemin
    • Butrytes
    • Erythropoetin
    • Histone Deacetylase Inhibitors
    • Hypomethylating Agents
    • -5 Azacytidine
    • -Decitabine
  230. Short Stature
    • Proportionate Short Stature
    • - Normal Variants
    • - Prenatal Causes
    • - Post natal Causes
    • - Psychosocial
    • - Endocrine Causes
    • Disproportionate Short Stature
    • - With Short Limbs
    • - With Short Trunks
    • Genetic syndromes
    • - Turner syndrome
    • - Prader-willi syndrome
    • - Noonan syndrome
  231. Causes of obesity are complex and multifactorial
    • Psychosocial / environmental factors
    • Genetic,
    • Endocrinal
    • Medication
  232. Traffic light diet groups
    • Green-without limitations
    • Yellow-in moderation
    • Red-infrequent treats
  233. Drugs in Obesity
    • Orlistat
    • Phentermine with Topiramate
    • Amylin with Leptin
    • Lorcaserin
    • liraglutide
  234. Treatment of CP
    • PREVENTION: Mg Sulphate given intravenously to mother in preterm labor, Cooling term infants with HIE
    • Spastic Diplegia: Assistance of adaptive equipment (Walkers, Poles), Surgical Soft tissue procedures (Adductor Tenotomy or psoas transfer or release) Rhizotomy
    • Spastic Hemiplegic: Tenotomy of Achilles Tendon, Movement in good side constrained
    • SPASTICITY: Benzodiazepines, Baclofen, Trihexyphenidyl, Reserpine, Intrathecal Baclofen
    • BOTULINUM TOXIN: Injected in special muscle, Salivary gland to reduce drooling
    • For children who have a diagnosis of CP, a team of physicians, including neurodevelopmental pediatricians, pediatric neurologists, and physical medicine and rehabilitation specialists, as well as occupational and physical therapists, speech pathologists, social workers, educators, and developmental psychologists.
  235. ADEM
    • Monopahsic ADEM: Which represent one demyelinating process
    • Recurrent ADEM: Which represent relapse of symptom similiar to those of the first demyelinating process. 3 or more month after first episode.
    • Multiphasic: if the lesions present a dissemination in space and time i.e relapse of symtoms of locations other than those in first demyelinating process. 3 or more month after first episode.
  236. MS/ADEM/NMO
    • Relapsing Remitting(Multiphasic)///Self Limiting(Monophasic)/// Monophasic or Polyohasic
    • Periventricular White Matter(Discrete)+ Short Segment lesion /// Large multifocal white and grey matter + TM /// Spine MRI with longitudnal extensive TM involving atleast 3 spine segment
    • Encephalopathy Absent/// Present/// Absent
    • Family h/o 20%/// Absent/// Absent
    • U/L Optic Neuritis/// B/L optic neuritis /// b/L Optic Neuritis
    • Oligoclonal Bands, IgG Index/// Pleocytosis(Lymohocytosis/// Anti aquaporin 4 antibody
  237. Arterial Ischemic Stroke
    • Antithrombotic Therapy: Controversial (Important Role in CSVT)
    • Neuroprotective Strategies
    • Disease Specific Treatment
    • Secondary Stroke Prevention
    • Rehabilation
  238. Stroke Mimics (@ I M HAVing SCID)
    • Infection
    • Migraine
    • Hypoglycemia/Hypertensive encephalopathy/HIE
    • Alternating Hemiplegia of childhood
    • Vestibulopathy
    • Seizure
    • Chanellopathies
    • IEM
    • Demyelination
  239. CNS Vasculitis
    • Primary CNS Vasculitis (Large/Medium Vessel and Small Vessel Vasculitis)
    • Secondary CNS Vasculitis
    • Autoimmune Vasculitis
    • LAboratory: ESR, CRP, CBC, vWF Ag, CSF(High Pressure, Lymphocyte rich, Oligoclonal Bands), Neuroimaging(Ischemic Lesion), Angiography(Stenosis, Dilatation), Biopsy for small Vessels
    • Treatment: Steroid, Thrombosis(ASpirin, LMWH)
  240. Clinical Criteria For Vascultis
    • Newly acquired focal and/or diffuse neurological symptoms in a child Angiographic and/or histologic evidence of vasculitis
    • Absence of Systemic Underlying Condition to cause or mimic the findings
  241. Neisseria Meningitis Vaccine:
    • A,B,c,Y, W-135
    • Epidemic disease is caused by A
  242. Meningitis
    • Increased ICT (Communicating Hydrocephalous, Cytotoxic edema, Vasogenic Edema)
    • Raised CSF Protein (Increased Permeability of BBB)
    • Hypoglycorrhoea
    • CN Palsies (Focal Neurological Sign d/t Vascular Occlusion)
    • Seizures
    • Altered Mental Status
  243. Treatment of Meningitis
    • S.Pneumoniae: 10-14 days
    • H.Influenza: 7-10 days
    • N.Meningitis: 5-7 days
    • Steroid tretment in child with H.Influenza
  244. Complication of Meningitis
    • Acute: Seizures, Increased ICT, CN Palsies, Stroke, Cerebellar Herniation, Thrombosis of dural venous sinuses, Subdural Effusion
    • Chronic: Neurodevelopmental Sequelae (Hearing loss, Cognitivee Impairment, Recurrent Seizure, Delay in Acquistion of Skill, Visual Impairment, Bebavioural Problems), SNHL: MC Sequelae, SIADH
  245. Prevention of Meningitis
    • Neisseria Meningitis: Close Contacts Rifampin 10 mg/kg/dose every 12 hr for 2 days
    • H.Influenza: All Household Contact 20mg/kg/dose OD for 4 days
    • Streptococcus Pneumoniae
  246. PCP Pneumonia/LIP
    • Acute/// Chronic
    • Cough Distress Tachypnoea, HYPOXIA out of proprtion/// Cough Fever Tachypnoea CLUBBING
    • Stage IV/// Stage III
    • Interstitial Pneumonia, Diffuse Alveolar Infitrate/// Diffuse reticulonodular pattern with perihilar lymphadenopathy
    • Trimethoprim-Sulphamethaxzole,Pentamide with steroid/// Steroid
  247. OCD
    • Chronic Disabiling illness characterized by repititive, ritualistic behaviour over which the patient has little or no control
    • Common obscession are Contamination and thought of harming loved ones
    • 10% of OCD triggered by GAS
    • Treatment Bognitive behavioural therapy or CBT oith SSRI
  248. Listeriosis
    • Improperly processed dairy products and contaminated vegetables
    • Ampicillin +/- Aminoglycoside

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Author:
drsubashb
ID:
328607
Filename:
Final Exam
Updated:
2017-08-21 14:44:22
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Description:
Genetic counselling, Gene therapy
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