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Names Names Names Flashcards

1
Q

Wolff-Chaikoff Effect

A

reduction in thyroid hormone production from too much iodine consumption

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2
Q

Jod Basedow Phenomenon

A

thyrotoxicosis if patient with iodine deficiency goiter is made iodine repleat
HYPERthyroidism (toxic multinodular goiter)

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3
Q

Wolff-Parkinson-White

Treatment?

A

A pre-excitation syndrome of the heart. caused by the presence of an abnormal accessory electrical conduction pathway between the atria and the ventricles, resulting in a unique type of supraventricular tachycardia
Delta waves on EKG
Tx: Procanimide and ablation

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4
Q

Chvostek’s Sign

A

When the facial nerve is tapped at the angle of the jaw, the facial muscles on the same side of the face will contract momentarily (typically a twitch of the nose or lips) because of hypocalcemia

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5
Q

Trousseau’s Sign

A

bp cuff is placed around the arm and inflated to a pressure greater than systolic bp and held for 3 min, occluding the brachial artery. In the absence of blood flow, the patient’s hypocalcemia and subsequent neuromuscular irritability will induce spasm of the muscles of the hand and forearm. The wrist and metacarpophalangeal joints flex, the DIP and PIP joints extend, and the fingers adduct.

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6
Q

Trousseau’s Syndrome

A

migratory thrombophlebitis in cancer patients

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7
Q

DiGeorge Syndrome

A

22q11.2 deletion.
Third and Fourth pharyngeal pouches do not develop into the thymus.
Athymic

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8
Q

Sheehan’s Syndrome

A

hypopituitarism caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirth.

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9
Q

Kimmelsteil-Wilson Nodules

A

mesangial expansion, GBM thickening, eosinophilic nodular glomerusclerosis seen on light microscopy in Diabetic glomerularnephropathy

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10
Q

Kussmal’s Sign

A

a paradoxical rise in jugular venous pressure (JVP) on inspiration. It can be seen in some forms of heart disease and is usually indicative of limited right ventricular filling due to right heart failure.

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11
Q

Zollinger-Ellison Syndrome

A

gastrin secreting tumor of pancreas or duodenum causing recurrent ulcers.
stomach has rugal thickening with hypersecretion
can be spontaneous or part of MEN1

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12
Q

Plummer Disease

A

single toxic nodule (adenoma) which may present with the background of a suppressed multinodular goitre

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13
Q

Kussmal Respirations

A

rapid and deep breathing sign of DKA

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14
Q

deQuervain’s Thyroiditis

A

subacute thyroidisits
self-limited HYPOthyroidism often following flu like symptoms)
may be hyperthyroid early in course

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15
Q

Reidel’s thyroidistis

A

thyroid is replaced by fibrous tissue

“rock-hard” thyroid

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16
Q

Homer-Wright pseudo rosette

A

small blue cells arranged around central pink neural fibrils

Seen in Neurobalstoma tumors

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17
Q

Waterhouse-Friderichsen syndrome

A

acute primary adrenal insufficiency due to adrenal hemorrhage
associated with N. meningitidis

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18
Q

Addison’s Disease

A

chronic primary adrenal insufficiency due to adrenal atrophy
presents: low aldosterone, cortisol, hypotension, hyperkalemia, acidosis, skin hyperpigmentation

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19
Q

Meigs Syndrome

A

triad of ascites, pleural effusion and benign ovarian tumor

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20
Q

Conn’s Syndrome

A

aldosterone- producing adenoma
causes primary hyperaldosteronism
treat with sprinolactone and/or surgical resection

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21
Q

Good Pasture’s

A

autoimmune disease in which antibodies attack the lungs and kidneys, leading to bleeding from the lungs and to kidney failure.

22
Q

Zellweger Syndrome

A

AR Leukodystrophy
mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. This causes impaired peroxisome function so tissues accumulate very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA) (normally degraded in peroxisomes)

23
Q

Chediak-Higashi Syndrome

A

AR disorder that arises from a microtubule polymerization defect which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy.

24
Q

Karategner Syndrome

A

immotile cilia due to a dyein arm defect. results in male and female infertility, bronchiectasis and recurrent sinusitis
associated with situs inversus (organs on other side of body)

25
Q

Alport Syndrome

A

usually X-linked dominant (can be recessive) collagen type 4 disorder
effects basement membranes
presents with glomerulonephritis, endstage kidney disease, hearing loss

26
Q

Gilbert’s Syndrome

A

mildly decrease UDP-glucuronyl transferase or decrease bilirubin uptake
no clinical consequence

27
Q

Cri-du-Chat syndrome

A

congenital micro-deletion of short arm of chromosome 5

presents with microcephaly, mental retardation, high pitched crying/mewing, epicanthal folds, and cardiac abnormalities

28
Q

Willams Syndrome

A

congenital microdeletion of long arm of chromosome 7 (including elastin gene)
presents with elfin facies, mental retardation, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems

29
Q

von Hippel Lindau

A

AD- deletion of VHL gene (tumor suppressor) on chromosome 3 resulting in expression of HIP (transcription factor) and activation of angiogenic growth factors.
presents with hemagioblastomas of retina/cerebellum/medulla, multiple bilateral renal cell carcinomas and other tumors.

30
Q

Osler-Weber-Rendu Syndrome

A

Hereditary hemorrhagic telangiectasia
AD- blood vessel disorder presenting with telangiectasia, recurrent epistaxis, skin discoloration, and arteriovenous malformations

31
Q

Lesch-Nyhan

A

defective purine salvage from absence of HGPRT (converts hypoxanthine to IMP and guanine to GMP)
results in excess uric acid and denovo purine synthesis
presents with retardation, self-mutilation, agression, hyperuricemia, gout, and choreoathetosis

32
Q

Crigler-Najjar Syndrome

A

absent UDP-glucuronyl transferase
presents early in life and patients die withina few years
presents with jaundince, kernicterus, increase in unconjugated bilirubin
tx: plasmapharesis and phototherapy

33
Q

Dubin-Johnson Syndrome

A

conjugated hyperbilirubinemia due to defective liver excretion
grossly black liver but benign and asymmptomatic

34
Q

Courvoisier’s Sign

A

obstructive jaundice with palpable gallbladder

35
Q

Budd-Chiari Syndrome

A

occlusion of IVC or hepatic veins with centrilobar congestion and necrosis
leading to congestive liver disease
(note absent JVD on PE)

36
Q

Reye’s Syndrome

A

rare, fatal childhood hepatoencephalopathy associated with viral infections (esp VZV and influenza B) that has been treated with alicylates (asprin)

37
Q

Hartnup’s Disease

A

AR disorder with defective neutral amino acid transporter on renal and intestinal epithelial cells
causes tryptophan excretion in urine and decreased absorption from gut
causes pellagra

38
Q

Homan’s Sign

A

tender calf muscle upon dorsiflexion indicates DVT

39
Q

Murphy’s Sign

A

Positive (indicative of gallstones) if patient has inspiration arrest on deep palpation (over gallbladder area) due to pain

40
Q

Gardner’s Syndrome

A

familial adenomatous polyposis with osseous and soft tissue tumors, retinal hyperplasia

41
Q

Turcot’s Syndrome

A

familial adenomatous polyposis with malignant CNS tumor

42
Q

Cowden Syndrome

A

rare AD multiple hamartoma syndrome

43
Q

Peutz-Jeghers

A

AD - multiple non-malignant hamartomas throughout GI tract with hyperpigmented mouth, lips, hands, and genitalia
associated with increased risk of colorectal cancer and other visceral malignancies

44
Q

Berger’s Disease

A

IgA Nephropathy
related to Henoch-Schonlein
Presents with URI or acute gastroenteritis
See mesangial proliferation on light microscopy, mesangial IC deposits on EM, and IgA deposits in mesangium on immunoflorescence

45
Q

Henoch-Schonlein

A

skin and multi-organ disease in kids, often preceded by an infection, like pharyngitis. Skin has palpable purpura with joint and abdominal pain. Kidneys can be involved, with small amounts of protein and blood in the urine. Can progress to chronic kidney disease

46
Q

Takosubo’s cardiomyopathy

A

non-ischaemic cardiomyopathy in which there is a sudden temporary weakening of the myocardium. weakening can be triggered by emotional stress, such as the death of a loved one, a break-up, or constant anxiety, the condition is also known as broken heart syndrome

47
Q

Haldane Effect

A

in the lungs, Oxygenation of Hb promotes dissociation of H+ from Hb,shiftingthe equilibrium toward CO2 formation; therefore CO2 is released from RBCs

48
Q

Bohr Effect

A

in peripheral tissue, an increase in H+ from metabolism shifts curve to the right, unloading O2

49
Q

Virchow’s Triad

A
  1. Stasis
  2. Hypercoaguability
  3. Endothelial Damage
    * *can lead to pulmonary embolis
50
Q

Cruschman’s Spirals

A

shed epithelium from mucus plugs seen in Asthma patients

51
Q

Reid Index

A

Thickness of glad layer/ total thickness of bronchiolar wall

  • used to measure airway obstruction
  • *Reid Index of >50 = Chronic bronchitis
52
Q

Chagas Disease

A

dilated cardiomyopathy, megacolon, megaesophagus (achalasia)
typically in South America
caused by Trypsanosoma cruzi

comlex (18 decks)

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