Environmental and nutritional pathology (Condensed) 2026

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Last updated 1:54 PM on 4/10/26
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35 Terms

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Non-irritating colorless, odorless gas, present in cigarette smoke; systemic asphyxiant, which causes accidental/suicidal death

Carbon monoxide

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Characteristic skin color seen in individuals affected by carbon monoxide poisoning

Cherry red discoloration of skin and mucous membranes

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#1 cause of lung cancer among nonsmokers

Radon exposure

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Substance that can interfere with calcium metabolism and deposit in bones, teeth; impairment of fracture healing; peripheral demyelinating neuropathy, manifesting as foot/wrist drop

Lead

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Hematological manifestations from lead poisoning

Microcytic, hypochromic anemia with basophilic stippling and ringed sideroblasts (iron-laden mitochondria)

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Disease caused by in utero exposure to methylmercury through ingestion of contaminated fish

Minamata disease

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Osteoporosis, osteomalacia, associated with renal disease in Japanese women working in rice fields exposed to cadmium

Itai-Itai disease ("ouch ouch")

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Type of emphysema associated with cigarette smoking

Centriacinar type

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Compound responsible for alcohol intolerance

Acetaldehyde

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Gene associated with malignant hyperthermia

RYR1 (ryanodine receptor 1) - This leads to increased intracellular Ca in skeletal muscle, producing sustained muscle contraction and heat production

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Earliest and most affected cell in exposure to ionizing radiation

Lymphocytes, Followed by bone marrow, small bowel, and then brain

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Type of malnutrition associated with hypoalbuminemia, flaky pain skin appearance, and flag sign of the hair

Kwashiorkor

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Spinal cord tract that degenerates in vitamin B12 deficiency

Posterolateral spinal cord tract

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Acute complication of vitamin A toxicity, associated with headache, dizziness, vomiting, stupor, and blurring of vision

Pseudotumor cerebri

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Cascade of abnormalities triggered by one initiating aberration

Potter sequence - Due to oligohydramnios

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Period in gestation of extreme susceptibility to congenital anomalies

3rd-9th weeks AOG, Peaking at 4th-5th week

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Anomalies associated with congenital rubella (4)

Cardiac anomalies, Sensorineural hearing loss, Cataracts, Mental retardation

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Common cause of retinopathy of prematurity (ROP) and bronchopulmonary dysplasia (BPD)

Hyperoxia

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Complication associated with aggressive enteral nutrition to premature neonates, causing sepsis and hematochezia, and abdominal distention

Necrotizing enterocolitis. Loss of mucosal integrity (ischemia, infarction, inflammation) permits the transport of bacteria from intestinal lumen to the bloodstream.

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Most serious complication of hyperbilirubinemia in newborns, especially at bilirubin levels >20 mg/dL (or lower in preterm)

Kernicterus

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In Rh incompatibility, the mother is Rh-? While the fetus is Rh-?

Mother: Rh Negative, Fetus: Rh Positive

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What is the blood type of the mother and fetus in ABO incompatibility?

Mother: O, Fetus: A or B

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Hemolytic disease of the newborn that can occur during the first pregnancy

ABO incompatibility, Since anti ABO antibodies are naturally occurring

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Most common lethal genetic disease affecting Caucasian populations, associated with salty sweat and viscous secretions; autosomal recessive condition

Cystic fibrosis (mucoviscidosis)

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Gene mutation found in cystic fibrosis

CFTR gene in chromosome 7

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Male GUT structure absent in individuals with cystic fibrosis

Vas deferens - This leads to azoospermia and infertility)

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Most common malignant pediatric tumor

Leukemia

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Tumor known to cause abdominal mass crossing the midline and blueberry muffin appearance of the skin

Neuroblastoma

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Paraneoplastic syndromes associated with Neuroblastoma (3)

VIPoma, Opsoclonus-myoclonus ataxia syndrome, Hypertension

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Gene mutation seen in Wilms tumor

WT1/WT2 gene

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Three diseases that increase the risk of Wilms tumor

WAGR syndrome, Denys-Drash syndrome (highest risk - 90%), Beckwidth-Wiedemann syndrome

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Component clinical features of WAGR syndrome (4)

Wilms tumor, Aniridia, Genitourinary abnormalities, Mental retardation

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Components of Denys-Drash syndrome (2)

Gonadal dysgenesis, Early onset nephropathy

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Syndrome associated with organomegaly, macroglossia, hemihypertrophy, omphalocele, and adrenal cytomegaly

Beckwidth-Wiedemann syndrome

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Pediatric tumor presenting with an abdominal mass that does not cross the midline, hematuria, and hypertension

Wilms tumor (nephroblastoma). May cross the midline if large.