List Diseases – S
Immunodeficiency and chromosomal instability are markers of ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS), which together with Bloom's syndrome, the pigmentary xeroderma is included in the group of syndromes with chromosomal instability. Genes whose mutations cause the development of AT and NBS are ATM (Ataxia-Teleangiectasia Mutated) and NBSl, respectively.
Syndromes of air leakage from the lungs mean the spread of air outside its normal location in the airspace of the lungs.
Syndrome X is the dysfunction or constriction of the vessels of the microvasculature, leading to the onset of angina pectoris (angina pectoris).
Stevens-Johnson syndrome is a toxic-allergic disease that is a malignant variant of bullous multiforme exudative erythema.
Syndrome Stephen-Johnson - an acute disease that has a severe course and causes the formation of blisters on the skin and mucous membranes. The syndrome of Stephen-Johnson is found most often in young people, and men get sick more often than women.
Syndrome Schwartz - Barter - a syndrome of inadequate secretion of antidiuretic hormone. Clinical symptoms depend on the degree of water intoxication and the degree of hyponatremia. The main signs of this disease are hyponatremia, a decrease in the osmotic pressure of blood plasma and other body fluids with a simultaneous increase in the osmotic pressure of urine.
Syndrome Shvakhmana-Diamond is characterized by neutropenia and exocrine pancreatic insufficiency in combination with metaphyseal dysplasia (25% of patients). Inheritance is autosomal recessive, there are sporadic cases. The cause of neutropenia lies in the defeat of progenitor cells and bone marrow stroma. Violated neutrophil chemotaxis.
Syndrome Shvakhmana-Diamond is an autosomal recessive disease characterized by pancreatic insufficiency, neutropenia, neutrophil chemotaxis disorder, aplastic anemia, thrombocytopenia, metaphyseal dysostosis, physical development delay.
The Patau syndrome (trisomy on the 13th chromosome) develops in the presence of an extra 13th chromosome and includes malformations of the forebrain, face and eyes; marked mental retardation; low birth weight.
Intracranial pressure is the pressure in the cranial cavity and the ventricles of the brain, in the formation of which the membranes of the brain, cerebrospinal fluid, brain tissue, intracellular and extracellular fluid, and blood circulating through the cerebral vessels participate. In the horizontal position, the intracranial pressure is, on average, 150 mm of water column.
Syndrome of weakness of the sinus node (SSSU) - one of the most polymorphic violations of the heart rhythm in children, associated with the risk of development of syncopal conditions. The basis of the syndrome is the changes in the functional state of the main source of the heart rhythm, which for various reasons can not fully perform the role of a leading pacemaker and control the rhythm driver from a certain point.
Transverse spinal cord injuries involve one or more segments and completely or partially interrupt the spinal cord. More common is the syndrome of partial (partial) transverse lesion.
Syndrome of the superior vena cava (SVVV) is a veno-occlusive disease that leads to clinically significant disturbance of venous outflow from the upper vena cava basin.
The syndrome of the small intestine is malabsorption as a consequence of extensive resection of the small intestine. The manifestations of the disease depend on the length and function of the remaining small intestine, but diarrhea can be severe and characteristic is a malnutrition.
Probably everyone is familiar with the notion of "old maiden" - so long ago called a girl who for a long time did not marry. After all, following an unspoken stereotype, before the age of 25 any woman should have had a family.
A muscle syndrome that raises the anus is an episodic pain in the rectum, caused by a muscle spasm that raises the anus.
The pathogenesis of the disease is associated with the development of disturbances in the regulation of the intestine - more specifically, with the failure of its motor function, which leads to alternation of constipation with diarrhea.
Quite often, the syndrome of the "empty" Turkish saddle is asymptomatic. In the presence of symptoms, the clinical picture is extremely diverse. The main manifestation of the syndrome of the "empty" Turkish saddle (PTS) - violations of hypothalamic-pituitary functions of varying degrees. Possible headaches in the forehead, the flow of cerebrospinal fluid from the nose when coughing and sneezing, changing the fields of vision.
Inflammation is a typical defensive reaction to local damage. Evolution of views on the nature of inflammation largely reflects the development of fundamental general biological concepts of the body's response to the effects of damaging factors.
As a clinical phenomenon, this syndrome has been described by many authors. The lack of a clear etiologic cause of this sudden one-or two-sided deafness caused great discussions among the audiologists, who, however, did not lead to any results.