Zobrazeno 1 - 10
of 71
pro vyhledávání: '"familial diabetes"'
Autor:
Alessandro D. Genazzani, Christian Battipaglia, Laura Rusce, Greta Prampolini, Claudia Aio, Francesco Ricciardiello, Martina Foschi, Alessandra Sponzilli, Elisa Semprini, Tabatha Petrillo
Publikováno v:
Gynecological Endocrinology, Vol 40, Iss 1 (2024)
AbstractObjective To evaluate the effects of alpha lipoic acid (ALA) on hormonal and metabolic parameters in a group of overweight/obese Polycystic Ovary Syndrome (PCOS) patients.Methods This was a retrospective study in which thirty-two overweight/o
Externí odkaz:
https://doaj.org/article/c7820e8279a24bee8bf9850b8cc13495
Autor:
Alessandro D. Genazzani, Christian Battipaglia, Elisa Semprini, Melania Arnesano, Fedora Ambrosetti, Alessandra Sponzilli, Veronica Tomatis, Tabatha Petrillo
Publikováno v:
Endocrines, Vol 3, Iss 2, Pp 296-302 (2022)
Background: Polycystic ovary syndrome (PCOS) is a frequent reproductive disease characterized by hyperandrogenism, oligo /anovulation, and polycystic aspects at ultrasound. In these last years, a body of evidence disclosed the frequent occurrence in
Externí odkaz:
https://doaj.org/article/14ce218f37a242b9a9e39164588f9148
Autor:
Van T.T. Phan, MD, Zachary W. Bloomer, MD, Vien T.X. Phan, PhD, Mohamed K.M. Shakir, MD, Thanh D. Hoang, DO
Publikováno v:
AACE Clinical Case Reports, Vol 7, Iss 6, Pp 338-341 (2021)
Objective: Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a h
Externí odkaz:
https://doaj.org/article/97fcf741a46348a98e3b40d34ee5d073
Autor:
Siriwal Suwanpitak, Chutima Chanprasert, Ratchapong Netsrithong, Nattachet Plengvidhya, Pa-thai Yenchitsommanus, Methichit Wattanapanitch, Prapaporn Jungtrakoon Thamtarana
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102871- (2022)
Two heterozygous mutations (p.L475P in ZYG11A and p.E51K in GATA6) were identified in a family with autosomal dominant diabetes. ZYG11A-p.L475P was proposed as a causative mutation because of the complete segregation with hyperglycemia and the proven
Externí odkaz:
https://doaj.org/article/79cf7ff1688a46a09d71adf85602e96f
Autor:
Chutima Chanprasert, Nutchanawan Promnakhon, Nontaphat Thongsin, Siriwal Suwanpitak, Nattachet Plengvidhya, Pa-thai Yenchitsommanus, Prapaporn Jungtrakoon Thamtarana, Methichit Wattanapanitch
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102715- (2022)
A heterozygous mutation (c.T1424C: p.L475P) in ZYG11A completely segregating with hyperglycemia in a Thai family with familial diabetes of the adulthood has been reported as a cause of cell cycle arrest in 1.1B4 cell line. This mutation is a suggesti
Externí odkaz:
https://doaj.org/article/1698d188bf40400585f2e0b6540363e5
Autor:
Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan
Publikováno v:
JCRPE, Vol 12, Iss 4, Pp 420-426 (2020)
Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children
Externí odkaz:
https://doaj.org/article/465c2395160044719b053f7ff53ff2ba
Akademický článek
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Publikováno v:
Journal of Advanced Pharmaceutical Technology & Research, Vol 9, Iss 2, Pp 56-60 (2018)
Type 2 diabetes is the most common cause of hyperglycemia. It has different prevalence in various populations. It has been found out that type 2 diabetes is a genetic disorder; however, its inheritance and its type have not been well defined. In stud
Externí odkaz:
https://doaj.org/article/f32d9d3bd97c4c0e80a57f66413bd34a
Publikováno v:
AACE Clinical Case Reports, Vol 7, Iss 6, Pp 338-341 (2021)
AACE Clinical Case Reports
AACE Clinical Case Reports
Objective: Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60f94ec34fc14b9568d1b55e35f407c3
https://doi.org/10.1016/j.aace.2020.11.031
https://doi.org/10.1016/j.aace.2020.11.031
Autor:
Sarah Ehtisham, Syed Haris Ahmed, Senthil Senniappan, Nicola Foulds, Sarah E. Flanagan, Jayne A L Houghton, Aashish Sethi, Mohammed Didi, Kevin Colclough
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
JCRPE, Vol 12, Iss 4, Pp 420-426 (2020)
JCRPE, Vol 12, Iss 4, Pp 420-426 (2020)
Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07982118faab2b02aa32eafca73d62e3
https://doi.org/10.4274/jcrpe.galenos.2019.2019.0106
https://doi.org/10.4274/jcrpe.galenos.2019.2019.0106