Results 51 to 60 of about 31,436 (263)
Early onset of puberty in an obese boy with Klinefelter syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty
Byoung-Wook Cho +5 more
doaj +1 more source
American Journal of Hematology, EarlyView.ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin +40 more
wiley +1 more source
Growth and Pubertal Development in Children With Sickle Cell Anaemia at Muhimbili National Hospital 2010 [PDF]
, 2011 Sickle cell anaemia (SCA) is a genetic disorder with multisystem manifestations. Paediatricians and general practitioners dealing with these patients need to know the overview of the genetics, diagnosis, clinical manifestations, and treatment of sickle ...
Jacob, Theopista
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Investigation of montelukast effect on rosuvastatin induced late puberty in rats
Journal of Human Reproductive Sciences, 2022 Background: Puberty is a critical process for the development of sexual organs and reproductive ability. It is triggered and regulated by the hormones.
Tamadir Hamid Wadi Aledani +3 more
doaj +1 more source
Delayed puberty in thalassemia major patients
, 2016 Background Delayed puberty is the most common endocrine com-plication in thalassemia major. The main cause of delayed pu-berty in thalassemia major is the failure of the hypothalamic-pitu-itary axis due to iron accumulation in the pituitary.Objectives ...
Jose RL Batubara +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Growth and Pubertal Development Among HIV Infected Children Aged 8-18 years in Dar es Salaam [PDF]
, 2012 Advances in management of HIV-infected infants and children have been remarkable, majority of infected children are now surviving into adolescence. Several studies have shown that growth and pubertal development is often impaired among children with HIV ...
Mbwile, Gloria Reginald, Mbwile, G.R
core
Treatment of delayed puberty and hypogonadism in girls [PDF]
, 1991 The therapeutic management of female delayed puberty depends more on the objectives than on the underlying cause. We will have to consider the development of sex characteristics, the occurrence of menarche and the promotion of growth.
Heinrichs, Claudine +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source