Advices for Life

Diseases Of Children

December 20, 2016 00:04

Marfan syndrome

Morthal syndrome (Marfan) - a hereditary disease characterized by systemic connective tissue disorders (Q87.4; OMIM 154700).Inheritance - autosomal dominant with high penetrance and different expressivity.The frequency of diagnosed cases - 1 in 10 000-15 000, heavy forms - 1 25 000-50 000 infants.Boys and girls are sick with the same frequency. What causes Morthal syndrome? In 95% of cas...

December 20, 2016 00:04

Ehlers -Danlos Syndrome .Causes.Symptoms .Diagnostics.Treatment

Syndrome Ehlers-Danlos syndrome (Ehlers-Danlos) (SED; Q79.6) - a genetically heterogeneous disorder caused by various mutations in the collagen gene or genes responsible for the synthesis of enzymes involved in the maturation of collagen fibers.Characterized giperelastichnostyu skin, subcutaneous spherules, hyperextension of the joints, light fabrics and vulnerability hemorrhagic syndrome.T...

December 20, 2016 00:04

Iron deficiency anemia in children

Iron deficiency anemia in children - a clinical and hematological syndrome, based on - a violation of the synthesis of hemoglobin due to iron deficiency. described 3 of iron status: prelatent iron deficiency; latent iron deficiency; iron deficiency anemia. When prelatent iron deficiency iron content is reduced only to the depot, while maintaining the transport and hemoglobin funds...

December 20, 2016 00:03

Lack of vitamin B12

Vitamin B12 (cobalamin - Cbl) enters the body mainly with products of animal origin (such as meat, milk) and digested by absorption.Absorption of vitamin B12 - a multi-step process that includes: proteolytic release of cobalamin from proteins; cobalamin attaching to the protein secretion of gastric (intrinsic factor - IF, Kastla factor); recognition complex «IF-cobalamin" mucous membra...

December 20, 2016 00:03

Hemolytic anemia in children |Causes and treatment of symptoms of hemolytic anemia in children

Hemolytic anemia in children is among other blood diseases about 5.3%, and among the anemic conditions - 11.5%.In the structure of hemolytic anemia is dominated by inherited forms of disease. Hemolytic anemia - a group of diseases, the most typical of which is the increased destruction of red blood cells caused by the reduction in the duration of their life.It is known that the normal li...

December 20, 2016 00:03

Mitochondrial disease

mitochondrial disease - a large heterogeneous group of hereditary diseases and pathological conditions associated with impaired structure, functions of mitochondria and cell respiration.According to foreign researchers, the incidence of these diseases in newborns is 1: 5000. ICD-10 code Metabolic Class IV of, E70-E90. study of the nature of these pathological conditions began in 1962, w...

December 20, 2016 00:03

Kearns - Sayre Syndrome |Symptoms and treatment of the syndrome Kearns - Sayre

syndrome Kearns-Sayre - a disease first described in 1958. Most of the cases due to large deletions of mtDNA length of 2-10 thousand bp.Most raprostranena deletion length of 4977 bpIt is extremely rare duplications and point mutations. reasons Kearns-Sayre syndrome Most cases of Kearns-Sayre Syndrome - sporadic, can be explained by a high rate of mutation of the mitochondrial genome.It i...

December 20, 2016 00:03

Syndrome MERRF |Symptoms and treatment of syndrome MERRF

Syndrome MERRF (Myoclonic Epilepsy with Ragged-Red Fibers, myoclonus epilepsy, "torn" red fibers), first described in 1980.Subsequently the disease identified in an independent nosology. causes and pathogenesis of the syndrome MERRF syndrome is caused by point mutations in the gene for the tRNA lizinovoi locus 8344 and 8356. In 8344 a mutation decreases aminoacylation of tRNA up ...

December 20, 2016 00:03

Leber's syndrome .Causes.Symptoms .Diagnostics.Treatment

Leber's syndrome (LHON syndrome - Leber's Hereditary Optic Neuropathy), or hereditary optic nerve atrophy, described by T. Leber in 1871 causes and pathogenesis of Leber's syndrome.The disease is based on a point mutation of mtDNA.Her most often found at position 11778 of mtDNA respiratory chain complex 1.It belongs to a class of mutations mistsens when histidine is replaced arginine de...

December 20, 2016 00:03

Subacute necrotizing encephalomyopathies Leia .Causes.Symptoms .Diagnostics.Treatment

about the disease was first mentioned in 1951. To date, more than 120 cases described.Leigh's disease (OMIM 256000) - a genetically heterogeneous disease that can be inherited as a nuclear type (autosomal recessive or X-linked) and mitochondria (rarely). Etiology and pathogenesis of subacute necrotizing encephalomyopathies Leia.The disease is an enzyme deficiency, providing education energ...