Results 21 to 30 of about 29,405 (251)

Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy

open access: yesJCRPE
INTRODUCTION: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. The aim of this study was to report the frequency of delayed puberty in DMD from examination by a paediatric ...
Sarah McCarrison   +6 more
doaj   +1 more source

Association of puberty timing with parental age at childbirth among primary and secondary students in Beijing

open access: yesZhongguo gonggong weisheng, 2022
ObjectiveTo explore the relationship between puberty timing and parental age at childbirth among primary and secondary students and in Beijing, and to provide a reference for further comprehending puberty development of children and adolescents ...
Zu-hong ZHANG, Tian-jiao CHEN, Jun MA
doaj   +1 more source

Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

open access: yesJournal of the ASEAN Federation of Endocrine Societies, 2020
A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome.
Yee Lin Lee, Luke Toh, Fabian Yap
doaj   +1 more source

Delayed puberty versus hypogonadism: a challenge for the pediatrician [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2018
Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation.
Mauro Bozzola   +5 more
doaj   +1 more source

A classification of genes involved in normal and delayed male puberty

open access: yesAsian Journal of Andrology, 2023
Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability. It is a major transformational period of life, whose timing is strongly affected by genetic makeup of the individual, along with various ...
Maleeha Akram   +3 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

open access: yesMolecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

Making Sweat Measurable: Induction, Sampling, and Refreshment in Wearable Biofluid Sensing

open access: yesAdvanced Science, EarlyView.
Wearable sweat sensing relies not only on chemical detection but also on controlled biofluid management. This Review integrates sweat physiology, induction strategies, and microfluidic sampling architectures, demonstrating how flux, transport, and refreshment shape measurement reliability.
Soyoung Shin, Wei Gao
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican 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

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

open access: yesEndocrine Connections, 2018
Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive.
Elena Galazzi   +9 more
doaj   +1 more source

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