Names Names Names Flashcards
Wolff-Chaikoff Effect
reduction in thyroid hormone production from too much iodine consumption
Jod Basedow Phenomenon
thyrotoxicosis if patient with iodine deficiency goiter is made iodine repleat
HYPERthyroidism (toxic multinodular goiter)
Wolff-Parkinson-White
Treatment?
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
Chvostek’s Sign
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
Trousseau’s Sign
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.
Trousseau’s Syndrome
migratory thrombophlebitis in cancer patients
DiGeorge Syndrome
22q11.2 deletion.
Third and Fourth pharyngeal pouches do not develop into the thymus.
Athymic
Sheehan’s Syndrome
hypopituitarism caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirth.
Kimmelsteil-Wilson Nodules
mesangial expansion, GBM thickening, eosinophilic nodular glomerusclerosis seen on light microscopy in Diabetic glomerularnephropathy
Kussmal’s Sign
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.
Zollinger-Ellison Syndrome
gastrin secreting tumor of pancreas or duodenum causing recurrent ulcers.
stomach has rugal thickening with hypersecretion
can be spontaneous or part of MEN1
Plummer Disease
single toxic nodule (adenoma) which may present with the background of a suppressed multinodular goitre
Kussmal Respirations
rapid and deep breathing sign of DKA
deQuervain’s Thyroiditis
subacute thyroidisits
self-limited HYPOthyroidism often following flu like symptoms)
may be hyperthyroid early in course
Reidel’s thyroidistis
thyroid is replaced by fibrous tissue
“rock-hard” thyroid
Homer-Wright pseudo rosette
small blue cells arranged around central pink neural fibrils
Seen in Neurobalstoma tumors
Waterhouse-Friderichsen syndrome
acute primary adrenal insufficiency due to adrenal hemorrhage
associated with N. meningitidis
Addison’s Disease
chronic primary adrenal insufficiency due to adrenal atrophy
presents: low aldosterone, cortisol, hypotension, hyperkalemia, acidosis, skin hyperpigmentation
Meigs Syndrome
triad of ascites, pleural effusion and benign ovarian tumor
Conn’s Syndrome
aldosterone- producing adenoma
causes primary hyperaldosteronism
treat with sprinolactone and/or surgical resection
Good Pasture’s
autoimmune disease in which antibodies attack the lungs and kidneys, leading to bleeding from the lungs and to kidney failure.
Zellweger Syndrome
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)
Chediak-Higashi Syndrome
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.
Karategner Syndrome
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)
Alport Syndrome
usually X-linked dominant (can be recessive) collagen type 4 disorder
effects basement membranes
presents with glomerulonephritis, endstage kidney disease, hearing loss
Gilbert’s Syndrome
mildly decrease UDP-glucuronyl transferase or decrease bilirubin uptake
no clinical consequence
Cri-du-Chat syndrome
congenital micro-deletion of short arm of chromosome 5
presents with microcephaly, mental retardation, high pitched crying/mewing, epicanthal folds, and cardiac abnormalities
Willams Syndrome
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
von Hippel Lindau
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.
Osler-Weber-Rendu Syndrome
Hereditary hemorrhagic telangiectasia
AD- blood vessel disorder presenting with telangiectasia, recurrent epistaxis, skin discoloration, and arteriovenous malformations
Lesch-Nyhan
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
Crigler-Najjar Syndrome
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
Dubin-Johnson Syndrome
conjugated hyperbilirubinemia due to defective liver excretion
grossly black liver but benign and asymmptomatic
Courvoisier’s Sign
obstructive jaundice with palpable gallbladder
Budd-Chiari Syndrome
occlusion of IVC or hepatic veins with centrilobar congestion and necrosis
leading to congestive liver disease
(note absent JVD on PE)
Reye’s Syndrome
rare, fatal childhood hepatoencephalopathy associated with viral infections (esp VZV and influenza B) that has been treated with alicylates (asprin)
Hartnup’s Disease
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
Homan’s Sign
tender calf muscle upon dorsiflexion indicates DVT
Murphy’s Sign
Positive (indicative of gallstones) if patient has inspiration arrest on deep palpation (over gallbladder area) due to pain
Gardner’s Syndrome
familial adenomatous polyposis with osseous and soft tissue tumors, retinal hyperplasia
Turcot’s Syndrome
familial adenomatous polyposis with malignant CNS tumor
Cowden Syndrome
rare AD multiple hamartoma syndrome
Peutz-Jeghers
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
Berger’s Disease
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
Henoch-Schonlein
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
Takosubo’s cardiomyopathy
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
Haldane Effect
in the lungs, Oxygenation of Hb promotes dissociation of H+ from Hb,shiftingthe equilibrium toward CO2 formation; therefore CO2 is released from RBCs
Bohr Effect
in peripheral tissue, an increase in H+ from metabolism shifts curve to the right, unloading O2
Virchow’s Triad
- Stasis
- Hypercoaguability
- Endothelial Damage
* *can lead to pulmonary embolis
Cruschman’s Spirals
shed epithelium from mucus plugs seen in Asthma patients
Reid Index
Thickness of glad layer/ total thickness of bronchiolar wall
- used to measure airway obstruction
- *Reid Index of >50 = Chronic bronchitis
Chagas Disease
dilated cardiomyopathy, megacolon, megaesophagus (achalasia)
typically in South America
caused by Trypsanosoma cruzi
