Results 171 to 180 of about 572,136 (283)

Childhood-onset systemic lupus erythematosus presenting with growth retardation and delayed puberty: a case report. [PDF]

Front Pediatr
Liu Y, Li X, Gao Z, Liu X.
europepmc   +1 more source

Body size of male Atlantic salmon (Salmo salar L.) at introduction of a 5‐week LD12:12 winter signal influences their decision to mature early or smoltify

Journal of Fish Biology, EarlyView.
Abstract Sexual maturation of male Atlantic salmon post‐smolts (‘jacking’) is undesired in aquaculture and seems to occur due to the intensification in modern facilities. Maturation depends on internal and external factors (temperature, photoperiod, feed availability, energy levels, body size, genetic background) that act on the brain‐pituitary‐gonad ...
Enrique Pino‐Martinez, Kristine F. Staveland, Mitchell S. Fleming, Pablo Balseiro, Cindy Pedrosa, Sigurd O. Handeland   +5 more
wiley   +1 more source

Frailty in Adults With Down Syndrome: Cognitive, Functional and Biomarker Associations

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Down syndrome (DS) entails widespread age‐related functional decline affecting multiple organ systems, including genetically determined early‐onset Alzheimer disease (DSAD), resulting in an increased vulnerability to frailty early in life.
Georg Nübling, Lena Marth, Katja Sandkühler, Anna Stockbauer, Elisabeth Wlasich, Alexander Jäck, Olivia Wagemann, Julia Kustermann, Steffen Halbgebauer, Hayrettin Tumani, Günter Höglinger, Johannes Levin   +11 more
wiley   +1 more source

Biallelic <i>EZH1</i> Nonsense Novel Variant in Two Siblings with Neurodevelopmental Disorder and Central Precocious Puberty: A Case Report from a Consanguineous Saudi Family. [PDF]

Int J Mol Sci
Baity M, Alharbi K, AlObeid E, AlBakheet A, Mahnashi M, Arishi A, Tohary M, Arold ST, Colak D, Kaya N.   +9 more
europepmc   +1 more source

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, EarlyView.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

Conversion Practices in Eating Disorder Treatment: A Lived Experience Narrative. [PDF]

J Psychiatr Ment Health Nurs
Spadaccini C, Schweizer K.
europepmc   +1 more source

Long-Term Health Outcomes of Delayed Puberty in Males : A Comprehensive Population-Based Study

Introduction: Delayed puberty in boys, defined as lack of pubertal onset by the age of 14 years, is often constitutional and self-limited. However, it can lead to feelings of sadness and anxiety.
Lennartsson, Otto,, Nilsson, Ola,, Lodefalk, Magnus,, Rodanaki, Maria,, Cao, Yang,, Lodefalk, Maria,   +5 more
core  

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Pubertal development and hypothalamic-pituitary-gonadal axis are altered in male mice lacking Mecp2. [PDF]

J Neuroendocrinol
Martín-Sánchez A, Jiménez-Díaz D, Esteve-Pérez R, Vasile-Tudorache A, Read JE, Howard SR, Agustín-Pavón C.   +6 more
europepmc   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source