Zobrazeno 1 - 8
of 8
pro vyhledávání: '"M. R. Shaydullina"'
Publikováno v:
Медицинский вестник Юга России, Vol 14, Iss 1, Pp 38-42 (2023)
Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic patho
Externí odkaz:
https://doaj.org/article/46560ccde9c54316be1743d1ff3a8739
Publikováno v:
Медицинский вестник Юга России, Vol 11, Iss 4, Pp 78-83 (2020)
Autoimmune polyglandular syndrome type 3 (APS type 3) is a combination of autoimmune thyroid damage in combination with one or more autoimmune endocrine or non-endocrine diseases. It is represented by three subtypes: APS 3A (graves ‘ Disease, or Ha
Externí odkaz:
https://doaj.org/article/a0a98ca7d41f4ecebb76e523d43386f4
Publikováno v:
Медицинский вестник Юга России, Vol 11, Iss 3, Pp 65-68 (2020)
A clinical observation of a patient with Swyer's syndrome is presented. The article presents anamnesis data, phenotypic signs, clinical symptoms and objective data of the patient, the results of instrumental and hormonal studies, on the basis of whic
Externí odkaz:
https://doaj.org/article/22713d0a8aaa4f6db690d5ff46137cba
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:220-224
MEHMO syndrome (OMIM: 300148; ORPHA: 85282) is a disease appears by mental retardation, epilepsy seizures, hypogonadism, microcephaly, and obesity. Pathology is associated with mutations in the EIF2S3 gene located on the X chromosome and leads usuall
Publikováno v:
Problems of Endocrinology. 68:137-145
Today most adolescents have their first sexual experience at the age of 15–19. However, only 44% of girls and young women (15–24 years old) report about contraception at that moment. A decision on pregnancy in adolescence is a difficult choice an
Autor:
A. A. Kamalova, A. R. Shakirova, M. R. Shaydullina, L. D. Cheminava, L. B. Ganieva, A. N. Badretdinova, S. S. Saetov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 220-225 (2019)
Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common def
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 165-170 (2019)
Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect th
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 5, Pp 183-187 (2018)
Neonatal thyrotoxicosis is 1% of all cases of thyrotoxicosis in children and adolescents and it is mostly determined by the mother’s Graves’ disease. The most dangerous manifestations of neonatal thyrotoxicosis are intrauterine growth retardation