Results 121 to 130 of about 72,413 (261)

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth   +7 more
wiley   +1 more source

A survey of chromosome anomalies in Malta [PDF]

open access: yes, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

open access: yesClinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley   +6 more
wiley   +1 more source

Hypogonadism

open access: yes
Citation: 'hypogonadism' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10830 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Giulia Rastrelli   +2 more
openaire   +2 more sources

Real‐world evidence supports the safety and efficacy profile of luspatercept in clinically complex and heavily iron‐overloaded patients

open access: yes
British Journal of Haematology, EarlyView.
Barbara Gianesin   +29 more
wiley   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey   +4 more
wiley   +1 more source

Haemochromatosis ‐ a modern clinician’s guide

open access: yesInternal Medicine Journal, EarlyView.
Abstract Haemochromatosis is an inherited disorder of iron metabolism affecting approximately 100 000 Australians. Iron overload may result in end organ dysfunction, most commonly manifesting as chronic liver disease, arthropathy and endocrinopathies. End organ complications can be prevented, minimised or reversed, with early diagnosis and initiation ...
James G. Fiori, John K. Olynyk
wiley   +1 more source

ASSESSING TESTOSTERONE LEVELS IN MEN WITH TYPE 2 DIABETES: A CROSS-SECTIONAL STUDY IN PRIMARY CARE

open access: yesArquivos de Ciências da Saúde da UNIPAR
Objective: This study aimed to assess the prevalence of hypogonadism and its risk factors in Brazilian men with Diabetes Mellitus type 2, as well as testing the accuracy of laboratory diagnosis against The Androgen Deficiency in Aging Males (ADAM ...
Guilherme Alfonso Vieira Adami   +5 more
doaj   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith   +2 more
wiley   +1 more source

The frequency and peculiarities of hypogonadism in men with obesity

open access: yesОжирение и метаболизм
BACKGROUND: Male hypogonadism is associated with obesity, therefore, it is of interest to study its frequency. The clinical symptoms of hypogonadism are not specific, and laboratory diagnostics is the basis for its detection.
R. V. Rozhivanov   +8 more
doaj   +1 more source

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