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PLE > Syndromes and Other Proper Nouns > Flashcards

Syndromes and Other Proper Nouns Flashcards

1
Q

Autosomal recessive lower motor neuron disease which manifests clinically in infancy

A

Werdnig-Hoffmann Syndrome

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2
Q

Parkinsonism with autonomic dysfunction and orthostatic hypotension

A

Shy-Drager Syndrome

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3
Q

Wernicke Triad of Alcohol Encephalopathy

A

1) Ophthalmoplegia
2) Ataxia
3) Confusion

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4
Q

Charcot Triad of Multiple sclerosis

A

1) Nystagmus
2) Intention Tremors
3) Scanning Speech

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5
Q

Bilateral small pupils showing light-near dissociation, usually caused by Neurosyphilis

A

Argyll Robertson Pupil a.k.a. Prostitute’s Pupils

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6
Q

Triad of Hemochromatosis

A

1) Diabetes mellitus
2) Cirrhosis
3) Bronze skin pigmentation

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7
Q

Minute valveless veins in the walls of all four heart chambers

A

Thebesian veins

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8
Q

Key virulence factor of Neisseria Meningitides which causes phase variation to avoid immune system

A

Opa Factor

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9
Q

Assesses the disappearance of the gelatinous connective tissues in the middle ear of a child as proof that a live birth did happen

A

Wredin’s Test

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10
Q

Assesses the weight of the lungs to assess signs of live birth

A

Fodere’s Test

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11
Q

Procedure done in hernia repair where the conjoined transversus abdominis and internal oblique tendon is sutured to the Cooper ligament with interrupted nonabsorbable sutures.

A

McVay Procedure

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12
Q

Characteristic lymphocytes with cerebriform nuclei seen in blood smear of mycosis fungoides

A

Sezary cells

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13
Q

Hypogonadotropic hypogonadism condition characterized by delayed or absent puberty and an impaired sense of smell

A

Kallman’s Syndrome

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14
Q

Neuroendocrine cells of the GIT, also known as enterochromaffin cells

A

Kulchitsky cells

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15
Q

Characterized by recurrent aphthous ulcers, uveitis, and genital ulcers

A

Behcet Syndrome

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16
Q

Triad of Plummer Vinson Syndrome

A

1) Esophageal web
2) Severe iron deficiency anemia
3) Dysphagia/ atrophic glossitis

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17
Q

Condition wherein there is esophageal rupture leading to subcutaneous emphysema and pneumomediastinum

A

Boerhaave Syndrome

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18
Q

Gastric ulcer from severe burns

A

Curling ulcer

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19
Q

Gastric ulcer from increase in ICP

A

Cushing ulcer

20
Q

Cutaneous manifestation of an internal malignancy; usually presents as multiple seborrheic keratitis

A

Leser Trelat Sign

21
Q

FAP + Medulloblastomas or gliomas

A

Turcot Syndrome

22
Q

FAP + Fibromas + Osteomas

A

Gardner Syndrome

23
Q

Syndrome wherein there is a benign colonic polyp + mucocutaneous hyperpigmented patches on the lips, mucosa, etc.

A

Peutz-Jeghers Syndrome

24
Q

Condition characterized by overproduction of uric acid in the body presenting as hyperuricemia, gout, urinary tract stones, agression, and dystonia

A

Leych Nyhan Syndrome

25
Q

Mutation in the BLM gene which results to decreased helicase and therefore, deficient unwinding of the DNS

A

Bloom Syndrome

26
Q

Mutation in transport of copper transporter gene; presents with kinky hair, hypotonia, and nervous system deterioration

A

Menkes Disease

Meknes is copper-colored

27
Q

Deficiency of b-galactosidase

leading to the accumulation of galactosylceramide and demyelination in the CNS

A

Krabbe Disease

Crabbe and Goyle from HP

28
Q

Deficiency of alpha-galactosidase leading to fat build-up; presents as acroparesthesias, angiokeratomas, hypohydrosis, and corneal opacity

A

Fabry Disease

29
Q

Beta-glucosidase deficiency leading to organomegaly and osteodystrophy

A

Gaucher Disease

30
Q

Accumulation of tau bodies due to sphingomyelinase deficiency; presents as vertical palsy of the eyes, hypotonia, and organomegaly

A

Niemann Pick Disease

31
Q

Ceramidase deficiency of liposomes causing subcutaneous nodules and arthralgia of small joints

A

Farber Disease

32
Q

Presents as kidney failure, hearing loss, and eye abnormalities

A

Alport Syndrome

33
Q

Hypothesis which describes the behavior of O2 binding with Hgb in relation to pH and CO2

A

Bohr Effect

34
Q

Describes the affinity of CO2 for Hgb binding

A

Haldane Effect

35
Q

Hepatic and brain copper accumulation presenting as Kayser Fleischer rings, fatigue, and jaundice

A

Wilson Disease

36
Q

Most severe form of mucopolysaccharidosis type 1; presents as coarsening of facial features, hepatosplenomegaly, (+) corneal clouding

A

Hurler Syndrome

Gargoylism -> stone eyes

37
Q

Mucopolysaccharidosis type 2, presents as coarsened facial features, hepatosplenomegaly, mental retardation, (+) aggressive behavior

A

Hunter Syndrome

hunters are aggressive

38
Q

MPS Type IV, presents with no neurologic impairment but with skeletal deformities

A

Morquio Syndrome

39
Q

Most common MPS; MPS Type III, presents as multiple dev’t delays

A

San Filippo Syndrome

40
Q

Cluster of interneurons in the ventral respiratory group of the medulla of the brainstem responsible for respiratory rhythm

A

pre-Botzinger Complex

41
Q

Increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete K+ but retain Na+ and H2O

A

Liddle Syndrome

42
Q

Incorporation of measurements to identify a dead body

A

Bertillon System

43
Q

Hemangioma thrombocytopenia syndrome

A

Kasabach - Merrit Syndrome

44
Q

Nevoid basal cell carcinoma syndrome characterized by jaw cysts and basal cell carcinoma lesions

A

Gorlin Syndrome

45
Q

Triad of radiographic abnormalities characteristic of TB Arthritis

A

Phemister triad
1. Juxtaarticular osteoporosis
2. Peripherally located osseous erosions
3. Gradual narrowing of interoaseous spaces

PLE (8 decks)

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