kartagener syndrome

kartagener syndrome Kartagener syndrome– transposition of internal organs in combination with bronchiectasis and chronic sinusitis. Defects of cilia and flagella are manifested in the syndrome of immovable cilia (nl), the development of recurrent chronic bronchitis and sinusitis is likely. More than half of patients with a similar syndrome have situs viscerus inversus – transposition of internal organs […]

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Carotid node syndrome

Carotid node syndrome In carotid node syndrome, stimulation of one or both hypersensitive carotid nodes located at the bifurcation of the common carotid arteries leads to short episodes of syncope. There are 4 types. Cardiac inhibition – due to a parasympathetic response, causes bradycardia, sinoatrial arrest, or AV block. Vasodepression – a sudden drop in peripheral

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Kalmann syndrome

Kalmann syndrome Kalmann’s syndrome is caused by insufficient secretion of gonadotropins and is manifested by hypogonadism in combination with anosmia. Kalylat syndrome 1 (*308700, Xp22.3, KALI gene defect, K). Clinically: hypogonadism and anosmia. Laboratory: deficiency of GnRH, impaired secretion of FSH and LH, resistance of Leydig cells to gonadotropins. Kallmann syndrome 1 (*147950, R). Additionally: short stature, mental

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Kawasaki syndrome

Kawasaki syndrome Kawasaki syndrome– acute febrile illness of childhood, characterized by damage to the coronary and other vessels: their dilatation, the formation of aneurysms, thrombosis and ruptures of the vascular wall are possible. Incidence rates are highest in Japan (highest incidence of HLA-Bw22 Ag in the population); in Europe and Israel (HLA-Bw51). In siblings, the incidence is somewhat

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Itsenko-Cushing syndrome

Itsenko-Cushing syndrome Itsenko-Cushing syndrome– hypercorticism caused by hyperproduction of glucocorticoids by the adrenal cortex due to glucosteroma (p. 273) or an ACTH-secreting tumor of various organs (bronchi, thymus, pancreas, liver, but not the pituitary gland). In the last case they talk about the syndrome of ectopic production of ACTH. Separately, iatrogenic (drug) Itsenko-Cushing’s syndrome is distinguished, which

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Zominger-Ellison Syndrome

Zominger-Ellison Syndrome Zominger-Emison syndrome is a pancreatic islet cell tumor that produces gastrin and is accompanied by hypersecretion of hydrochloric acid and peptic ulcers. In 60% of cases, tumors are malignant, tumor sizes vary from 2 mm to 20 cm. Tumor resection is effective in about 10% of patients. Clinical picture Pain (similar to that of a

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Long crush syndrome

Long crush syndrome Syndrome of prolonged crushing – a shock-like condition after prolonged compression of body parts by heavy objects, manifested by oligo- or anuria due to impaired renal function by decay products of crushed tissues (for example, muscle myoglobin). Frequency In peacetime, cases of prolonged crush syndrome are mainly observed during collapses in mines, strong

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digiorgi syndrome

digiorgi syndrome DiGeorge syndrome is a congenital disease (*188400, 22q 11, damage to the DGCR, DOS, VCF, R genes) in the form of a combination of hypocalcemia (parathyroid gland hypoplasia), T-cell immunodeficiency (thymus hypoplasia), heart outlet defects (including tetrad Fallot), as well as facial malformations. The frequency is 1:4,000 newborns. Etiology Most cases of the syndrome are observed

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down syndrome

down syndrome Down’s syndrome is a chromosomal disease caused by trisomy of chromosome 21, usually due to a violation of chromosome segregation during meiosis of the egg. Frequency – 1 per 650 live births (the overall frequency in the population is higher, given that over 2/3 of the affected fetuses die in utero). The frequency increases with maternal

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Goodpasture syndrome

Goodpasture syndrome Goodpasture’s syndrome is an autoimmune disease characterized by pulmonary hemorrhage associated with severe progressive glomerulonephritis. AT to type IV collagen with a-3 chain (Goodpasture Ag) of the basement membrane of the renal glomeruli circulate in the blood. Pathomorphology kidneys Epithelial cell crescents Shrinkage of the renal glomeruli Interstitial inflammatory exudate Lungs Intraalveolar hemorrhages Macrophages loaded

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