

heredity
On the clinical picture and diagnosis of rare neurological diseases
Heading: Neurology Article type: Case report
Authors: Ulyanova O.V., Kutashov V.A., Brezhneva N.V.
Organization: Regional Children's Clinical Hospital No. 1 (Voronezh), Voronezh State Medical Academy
The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide. It belongs to the group of peroxisomal diseases, is associated with the accumulation of fatty acids with a very long chain and is characterized by a combined lesion of the nervous system and adrenal glands. X-ALD in neurology and Pediatrics require a targeted individual approach to each patient, genetic tests in relatives and prenatal diagnosis among patients at risk.
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2018_01-1_174-177.pdf | 256.65 KB |
Ichthyosis: the question of inheritance
Heading: Dermatovenerology Article type: Review
Authors: Talnikova Е.Е., Sherstneva V.N., Morrison A.V., Utz S.R.
Organization: Saratov State Medical University
This review summarizes the literature, specifically describing etiology, pathogenesis, classification and inheritance of ichthyosiform dermatoses. A case of ichthyosis vulgaris inherited in three generations of a family is described.
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2016_03-1_513-517.pdf | 915.64 KB |
Progeria
Heading: Skin Diseases Article type: Review
Authors: Utz S.R., Talnikova Е.Е., Sherstneva V.N., Rumyantseva E.V..
Organization: Saratov State Medical University
The data of literature, reflecting etiology, clinical features and differential diagnosis of progeria of childhood and adult are presented
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2014_03-01_522-524.pdf | 364.08 KB |