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This defect seen below is associated with which trisomy?
- Patau (trisomy 13)
- Cleft lip
Describe the presentation of Patau syndrome.
- HEAD: Holoprosencephaly, Microcephaly, Micropthalmia, Cleft lip/ palate, Cyclops, malformed/absent nose, Cutis aplasia
- EXTREMETIES: Polydactaly, Rocker-bottom feet
- HEART: PDA, VSD, ASD
- GI: Omphalocele, umbilical hernia, Pyloric stenosis
This defect below is characteristic of which disease?
- Cutis aplasia- absence of portion of skin
- Patau syndrome/ Trisomy 13
After administration of vasopressin, urine osmolality increases greater than 50%. What is the pathology?
- Central DI
- ↓ADHas a result of a pituitary tumor, autoimmune, trauma, surgery ect
After administration of vasopressin, urine osmolality increases with minimal change of less than 50%. What is the pathology?
- Nephrogenic DI
- ADH receptor mutation 2° to hypercalcemia, lithium, demeclocyline
After administration of vasopressin, urine osmolality increases by less than 10%. What is the pathology?
- Normal: <10% increase
- Primary polydipsia: <10% increase
- Differentiate between urine osmolality (concentration). If normal >800mOsm/L, if polydipsoa >500mOsm/L.
How do we treat Central DI?
- Intranasal desmopressin acetate
How do we treat Nephrogenic DI?
- Indomethacin- inhibit prostaglandins (which inhibit ADH)
- Amiloride- K+ sparing diuretic
What is the use of the Analysis of variance test?
Checks differences between means of 3 or more groups
What is the use of a t-test?
Checks differences between means of 2 groups
Electron microscope identifies this glomerular disorder.
- IgA nephropathy/Berger disease
- EM- mesangial immune complex deposits
Describe the presentation of IgA nephropathy.
- Patient presents with painless hematuria (cola colored) DAYS after upper respiratory tract infection
- (vs APSGN which occurs WEEKS after)
- RBC casts
- Associated with gastroenteritis.
- IF- IgA deposits in mesangium
What causes a Volvulus?
- Failure of the midgut to rotate counterclockwise as it returns to the abdominal cavity.
- Twisting of a bowel around its mesentery; can lead to obstruction and infarction.
The image below is characteristic of which disorder?
- Iron deficiency anemia
- Spoon nails/ koilonycha
Describe the type of anemia in Iron deficiency anemia.
What is the tensilon test?
- Tensilon/ Edrophonium test
- Anticholinesterase = ↑Ach
- Improves muscle activity in Myasthenia gravis ppts
What is type II hypersensitivity disorder?
IgG, IgM antibodies bind to cell surface antigens → destruction
What type of hypersensitivity is Myasthenia gravis?
Type II (antibody mediated)
Describe the pathophysiology of Goodpasture's disease?
- Autoantibodies against alpha-3 type IV collagen
- Anti-basement membrane antibodies
What causes cystic fibrosis?
- 3 base pair deletion of Phenylalanine in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene at aino acid position 508.This mutation impairs posttranslational processing of CFTR, resulting in the shunting of CFTR toward the proteasome for degradation.
What can precipitate a Wenicke encephalopathy?
Giving IV dextrose without prior thiamine.
What does the arrow below point to?
What causes coal worker's pneumoconiosis?
- Prolonged coal dust exposure → macrophages phagocytize dust particles (<2μm) → release cytokines which induce injury and inflammation
- Growth factors stimulate fibroblasts to proliferate and produce collagen (fibrosis)
Describe the cause and presentation of the pathology below.
- Apple peel atresia/ Jejunal, ileal, colonic atresia
- Due to vascular accident -> Ischemia/obliteration of segment of bowel
- Presents with bilious vomiting (greenish-yellowish) after first 24 hrs of life
- Absence of large segment of small bowel
- Blind ending proximal jejunum
- Ileum winds/ spiral around vessel
What causes pagets disease of the bone?
Excessive osteoclastic resorption
Which factors play an important role in osteoclastic differentiation?
- M-CSF - Macrophage colony-stimulating factor
- RANKL- Receptor for activated nuclear factor kappa beta- ligand
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