Results 61 to 70 of about 31,437 (284)

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

A potential mechanism for the sexual dimorphism in the onset of puberty and incidence of idiopathic central precocious puberty in children: Sex-specific kisspeptin as an integrator of puberty signals

Frontiers in Endocrinology, 2012
The major determinants of the variability in pubertal maturation are reported to be genetic and inherited. Nonetheless, nutritional status contributes significantly to this variability. Malnutrition delays puberty whereas obesity has been associated to a
Suzy eBianco, Suzy eBianco
doaj   +1 more source

A 21-year-old Man with Delayed Puberty [PDF]

, 2020
Delayed puberty is defined clinically by the absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation.
Hassanpour Akbar, Aletaha Najmeh, Talayi M A, Talayi M, Dadvar Zohreh, Allameh Seyed Farshad, Salehi Babak, Ketabimoghaddam Pardis   +7 more
core  

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

The Genetic Basis of Delayed Puberty. [PDF]

, 2017
The genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density, and compromised ...
Sasha R. Howard, Leo Dunkel, Howard, SR, Dunkel, L   +3 more
core   +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

Evaluation of Serum Leptin Levels and Growth in Patients with β-Thalassaemia Major

Anemia, 2016
Background. Iron deposition in the body can damage the endocrine glands of patients with β-thalassaemia major (β-TM). Leptin plays a key role in the regulation of appetite, body fat mass, and endocrine function. Objectives.
Lamia Mustafa Al-Naama, Meaad Kadum Hassan, Muhannad Maki Abdul Karim   +2 more
doaj   +1 more source

Disorders of Puberty in Severely Neurologically Impaired Children: Is Delayed Puberty an Underestimated Problem? [PDF]

, 2019
Introduction: In children with disabilities, precocious puberty (PP) has been reported, however there is a paucity of studies on delayed puberty (DP) in neurologically impaired (NI) children. Patients and Methods: We retrospectively evaluated 65 patients
Di Mitri M., Pelizzo G., Cena H., Calcaterra V., De Silvestri A.   +4 more
core   +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

Hypothyroidism-associated testicular enlargement: is it a form of precocious puberty or not? A case report

The Turkish Journal of Pediatrics, 2011
In children with untreated hypothyroidism, the onset of puberty is usually delayed, but gonadotropin-independent precocious puberty may occur in children with severe hypothyroidism of long duration.
Ihsan Esen, Fatma Demirel
doaj