Results 41 to 50 of about 29,405 (251)

Delayed puberty [PDF]

BMJ, 1985
L H Zondek, T Zondek
  +6 more sources

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series

Journal of the Pakistan Medical Association
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This
Versha Rani Rai, Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, Roshia Parveen   +5 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Developmental differences in cortical bone structure in chimpanzee and human femora reflect early locomotor independence in humans

The Anatomical Record, EarlyView.
Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan, Rachel Ives, Zewdi J. Tsegai, Louise T. Humphrey   +3 more
wiley   +1 more source

Comparing Pituitary MRI Findings in Patients with Thalassemia with and without Delayed Puberty

مجله دانشکده پزشکی اصفهان, 2011
Background: β-thalassemia major is among the most common genetic disorders in Iran. Blood transfusion, as the main stem of management of these patients, has numerous side effects including iron overload.
Atoosa Adibi, Ali Hekmatnia, Maryam Moradi, Ali Asghar Rahmani, Mohammad Hassan Moaddab   +4 more
doaj  

Craniofacial growth, modeling, and estimation of milestones

The Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood, Dana L. Duren, Christina L. Holzhauser, Hee Soo Oh, Manish Valiathan, Kieran P. McNulty, Kevin M. Middleton   +6 more
wiley   +1 more source

Comparative Analysis of Violations of Physical and Sexual Development in Children and Adolescents (Boys) with Various Mass Lesions of the Hypothalamic-Pituitary Region

Mìžnarodnij Endokrinologìčnij Žurnal, 2013
In this paper, the authors analyze the results of the survey 29 adolescent boys with different mass lesions of the hypothalamic-pituitary region. It is established a variety of disorders of growth and development, such as growth retardation (20.6 ...
Yu.M. Urmanova, U.Kh. Mavlonov
doaj   +1 more source

Exploring Healthcare Continuity in Pediatric‐Onset Multiple Sclerosis in the United States

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Little is known about shifting from pediatric to adult‐focused multiple sclerosis (MS) care. This study aims to explore transition of care and follow‐up in the US pediatric‐onset MS (POMS) population. Methods Surveys were distributed to 10 sites in the US Network of Pediatric MS Centers (US NPMSC) about transition‐of‐care practices ...
Aaron W. Abrams, Michael Waltz, Jonathan Race, T. Charles Casper, Claudia Gambrah‐Lyles, Kimberly O'Neill, Akash Virupakshaiah, Kristen S. Fisher, Melissa A. Wright, Kelsey E. Poisson, Eva‐Chava M. Bernfeld, Gregory Aaen, Leslie A. Benson, Tanuja Chitnis, Carla Francisco, Grace Y. Gombolay, Mark P. Gorman, Jennifer S. Graves, Lauren Krupp, Timothy E. Lotze, Soe Mar, Jayne Ness, Mary Rensel, Moses Rodriguez, Teri Schreiner, Nikita Shukla, Jan‐Mendelt Tillema, Bianca Weinstock‐Guttman, Yolanda Wheeler, Emmanuelle Waubant, John Rose, US Network of Pediatric MS Centers   +31 more
wiley   +1 more source

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

Endocrinology, Diabetes & Metabolism Case Reports, 2020
Hypogonadotropic hypogonadism is characterised by insufficient secretion of pituitary gonadotropins resulting in delayed puberty, anovulation and azoospermia. When hypogonadotropic hypogonadism occurs in the absence of structural or functional lesions of
Satyanarayana V Sagi, Hareesh Joshi, Emily Whiles, Mondy Hikmat, Vijith R Puthi, Jane MacDougall, Sarah L Spiden, Gavin Fuller, Soo-Mi Park, Samson O Oyibo   +9 more
doaj   +1 more source

A White Paper on Advancing Long‐Acting Therapeutics for Maternal and Pediatric Health by Bridging Gaps in Clinical Research, Access and Regulation

Clinical Pharmacology &Therapeutics, EarlyView.
As use cases for long‐acting therapeutics expand across clinical indications, there is a critical need to ensure the inclusion of women who are pregnant or breastfeeding, infants and children—populations with a historical gap in the availability of interventions already approved for use in adults.
Moherndran Archary, Robert Bies, Osei Boateng, Rachel Daley, Pierre Gashema, Mili Karina, Emily Njuguna, Sharon Nachman, Nathaniel Nkrumah, Carolyne Odula, Andrew Owen, Ethel D. Weld, Prajith Venkatasubramanian, Adeniyi Olagunju, on behalf of the Community of Practice for Long‐acting Therapeutics for Maternal and Paediatric Health, Rana Abutaima, Dorothy Akongo, Abdulnaser Alsharaa, Moherndran Archary, Shakir Atoyebi, Benoit Bestgen, Robert Bies, Osei Boateng, Andrew Butler, Edmund Capparelli, Rachel Daley, Layla Davies, Joelle Dountio, Henry Enzama, Pierre Gashema, Katila George, Dan Hawcutt, Rene Holm, Patrick Gad Iradukunda, Elodie Jambert, Mili Karina, Linda Lewis, Grace Miheso, Sebastien Morin, Andrew Morrison, Sharon Nachman, Shadia Nakalema, Emily Njunga, Nathaniel Nkrumah, Carolyne Odula‐Obonyo, Brenda Okware, Adeniyi Olagunju, Andrew Owen, Martina Penazzato, Natella Rakhmanina, Mphako Brighton Ratlabyana, Rachel Scott, Kimberly Struble, Andre‐Marie Tchouatieu, Catherine Unsworth, Prajith Venkatasubramanian, Catriona Waitt, Ethel Weld, Janine Winterbottom, Leena Zino   +59 more
wiley   +1 more source