EDWARDS- 18 Patau- 13

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 Diseases of Infancy & Childhood:

1. Trisomy 16

2. Oligohydramnios (or Potter) sequence:

3. Prune Belly Sequence (aka- Eagle-Barrett Syndrome)

4. SGA

5. Symmetric IUGR type I

6. Asymmetric/disproportionate IUGR type II

7. Neonatal Respiratory Distress Syndrome (NRDS)

8. BronchoPulmonary Dysplasia (BPD) Chronic Lung Disease of Prematurity:

9. Germinal Matrix Hemorrhage (GMH):

10. Necrotizing Enterocolitis (NEC):

11. Retinopathy of Prematurity (ROP)

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TORCH Complex: congenital abnormalities due to maternal infection

12. Toxoplasma

13. OTHER= Congenital Syphilis:

Hepatitis B virus:

Parvovirus B19:

14. Rubella virus

15. Cytomegalovirus

16. Herpes virus

17. Classical Galactosemia

18. Type II Galactosemia

19. Parvovirus B19- Hydrops Fetalis

3 malignant tumors in children: (SRBC)

Retinoblastoma: perivascular cuffing, Flexner-Wintersteiner & Homer-Wright Rosettes & Fleurettes. focal zones of
dystrophic calcification. Leukocoria Cats eye reflex (White pupil)

Neuroblastoma: pink background with fibrillary or wavy appearance (neuropil) & homerwright pseudorossettes. N-Myc=
HSRs & double minutes chromatin bodies on karyotype. Elevated HVA & VMA (catecholamines) in urine.

Wilms Tumor (Nephroblastoma): frilly lacey stroma & nephrogenic rests. Triphasic pattern. Claw or Beak sign. Abdominal
mass. Aneuridia (no iris, so huge pupil).

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multiple tan-white nodules are characteristic for metastatic
Senitnel lymphnode Detection - By radio labeled tracers or blue dyes

• ↑serum alk phosphatase:

DNA Oncogenic viruses:

1. HepB (HBV)Hepatocellular carcinoma HBX activates growth promoting genes (insulin like GF)
2. EBV 3 lymphomas and 1 naso: Burkitt lymphoma (8:14- C-MYC), Hodgkin, B cell & nasopharyngeal
carcinoma
i. Enters B cells via CD21; LMP-1 mimics CD40 and activates NFkB & JAK/STAT; EBNA-2 drives
translocation & activates cyclin D
3. HPV- inactivate tumor suppressor proteins E6xp53 & E7xRb

RNA Oncogenic virus= HepC (HCV)hepatocellular cancer causes chronic inflammation

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How does tumor invasion occur?
1) Contiguous growth- invade
adjent organs
2) Penetration of a body cavity
3) Penetrates lymphatics
(lymphatic spread initially
more typical of carcinoma)
4) Penetration of small venules or
capillaries (hematogenous
spread- initially more typical in
sarcoma)

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\

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Associated Cancers:
tubular adenoma-{{c1::colon}}
cystadenoma- {{c1::ovarian}}
fibroadenona- {{c1::breast}}
polyps- {{c1::colon}}
papilloma- {{c1::bladder}}
medullary- {{c1::thyroid}}
desmoplasia- prostate cancer

Basal Cell Carcinoma- a malignant tumor that doesnt metastasize but locally invades. UV-B radiation
Evolution of a ‘rodent ulcer’:
1) tumor begins as {{c1::pearly}} papules with {{c1::rolled}} margins
2) then can {{c1::ulcerate}} and locally invade underlying structures and bone

breast -->l{{c1::bone, brain, lung, liver,}}

prostate--> bone
pancreatic--> liver
ovarian--> peritoneal cavity
colon-->peritoneal cavity, liver, lungs
sarcomas--> lungs
neuroblastoma--> bone, liver, lungs

Adenocarcinomas of stomach= {{c1::signet}} cells

Renal cell carcinomas= {{c1::clear}} cells

Occupational Cancers:
Asbestos= {{c1::Lung, mesothelioma}}
Radon in soil= {{c1::lung}}
Vinyl chloride in plastics= {{c1::angiosarcoma of liver }}

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Normal:
- basal to apical differentiation
- small nucleus:cytoplasm (N:C) ratio
- intercellular adhesion

Hyperplasia:
- ↑ cell number
- otherwise normal histology
- reversible

Dysplasia:
- ↑ cell number & size
- loss of cellular orientation
- reversible

Carcinoma in situ (preinvasive):

- ↑ N:C ratio high
- nuclear changes (chromatin clumping)
- basement membrane remains intact
- non-reversible

Invasive carcinoma:
- A neoplasm that has breached the basement membrane but is still localized to tissue of origin
- Requirements:
1. reduced intercellular adhesions (↓ cadherin)
2. increased attachment to ECM proteins (↑ laminin and integrin receptors)
3. upregulated matrix metalloproteinases to pass through basement membrane
- non-reversible

Metastasis

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1. Severe Acute Malnutrition (SAM):
2. Kwashiorkor:
3. Marasmus:
4. Cachexia-
5. Anorexia Nervosa-
6. Bulimia-
7. Vitamin A Deficiency
8. Vitamin D Deficiency: Think BADGES
9. Osteomalacia (Nutritional Rickets)
10. Type 1 Renal rickets: Chronic renal failure Hyperphosphatemia, hyperparathyroidism, & metabolic acidosis
11. Type 2 Rickets: is due to a mutation in the VDR (Vitamin D receptor) gene.
12. Vitamin D toxicity: children=calcification of soft tissue such as the kidney (metastatic calcification);adults= bone pain & hypercalcemia.
13. Scurvy: Vitamin C deficiency. Elderly, alcoholics, and dialysis patients. Bleeding of gums, loose teeth, anemia, bruising.
Hyperkeratotic hair follicles. Bone changes due to impaired osteoid matrix formation (impaired synthesis of hydroxyproline and
hydroxylysine)
14. Vitamin C Toxicity: iron overload, hemolytic anemia in those with G6PD deficiency, and calcium oxalate kidney stones.
15. Vitamin K Deficiency: Patient with CF (absorption is blocked in gut), had bowel resection, drugs (phenytoin, antibiotics, &INH). PT
and PTT are prolonged. But the fibrinogen and platelets levels are normal. Bleeds out of mouth, nose, back
16. SHORT Bowel Syndrome: immediate post op-period with profuse watery diarrhea exacerbated by oral intake. A,D, E, K, &B12 + Zn, K,
Mg. Renal stones, Cholelithiasis, Lactic acidosis
17. 2 types of Beriberi- Thiamine B1 deficiency polished white rice.
18. Wet beriberi- Cardiac Failure predominates, high CO & Edema 🔑 heart is wet w/ blood; biventricular high output cardiac failure
19. Dry beriberi- neuromuscular symptoms predominate (weakness, paraesthesia, depressed reflexes, and muscle atrophy in the
extremities)
20. Wernicke’s encephalopathy: Atrophy of mammillary bodies at 3rd ventricle. in chronic alcoholics this deficiency manifests itself with
CNS symptoms- progressive dementia, ataxia, and ophthalmoplegia. Myelin sheath degeneration beginning in the sciatic nerve,
axon fragmentation,
21. Korsakoff psychosis which is a thought disorder; Konfabulation and memory disturbances.
22. Pellagra: Niacin (B3) corn maize is staple food- 3 D’s: Diarrhea, Dermatitis, Dementia DEATH. Areas exposed to light and pressure
exhibit a scaly dermatitis (glove and stocking dermatitis). ↑ HDL and ↓ LDL
23. Pyridoxine (B6) deficiency: Microcytic Hypochromic anemia, convulsions, seizures & homocystinuria. ↓ GABA. Alcoholics & INH
24. Biotin (B7) Deficiency: Skin rashes and neurologic symptoms, along with hair loss and dandruff.
25. Folate (B9) Deficiency: megaloblastic macrocytic anemia. MVC>100. Causes of deficiency: A FOLIC POD. Alcoholism, Folic acid
antagonist-Methotrexate, Oral contraceptives, Low dietary intake (excessive goat milk); Infection with giardia, Celiac sprue,
Pregnancy/Psoriasis; Old age; Dilantin(aka phenytoin)
26. 5 causes of macrocytic anemia: Folate, B12, Liver Disease, Mild dysplastic syndrome, Hypothyroid states

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27. Pernicious anemia- antibodies against gastric mucosa paritetal cell ↓IF= inability to absorb B12 deficiency= Megaloblastic anemia &
CNS demyelination of posterior column/dorsal spinal tracts. ↑ Methylmalonic acid. Fish tapeworm, Crohn’s disease, blind loop
syndrome. Classic triad: weakness, sore tongue, and paraesthesia (& decreased vibratory sensation)
28. Iodine Deficiency: hypothyroidism & goiter (thyroid gland hyperplasia due to ↑ TSH levels). Congenital hypothyroidism (in fetuses of
affected mother): intellectual impairment, short stature, speech & hearing loss

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