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Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
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Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, Australia
Objectives: To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.
Design: A retrospective study over a 5-year period (January 2018-December 2022).
Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
J Mol Neurosci
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Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/Peking Union Medical College, Beijing, 100730, China.
CSF1R-related leukoencephalopathy (CSF1R-L) and AARS2-related leukoencephalopathy (AARS2-L) were two disease entities sharing similar phenotype and even pathological changes. Although clinically, radiologically, and pathologically similar, they were caused by mutation of two different genes. As the rarity of the two diseases, the differential diagnosis of them was difficult.
View Article and Find Full Text PDFPlaying a serious game to increase fertility awareness: perceptions of adolescents, parents and teachers.
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Instituto Superior Miguel Torga, Coimbra, Portugal.
Infertility is increasing globally, affecting one in six adults due to factors like delayed childbearing and lifestyle changes. Despite the recognition of the importance of increasing fertility awareness, levels remain low. This study evaluated the perceptions of 'FActs!', a serious game aimed at improving adolescents' fertility awareness.
View Article and Find Full Text PDFChallenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
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Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and excess production of ACTH and adrenal androgens. This review examines the clinical considerations and challenges of balancing under- and overtreatment with glucocorticoids in adolescent and adult male individuals with CAH. Adolescents face many unique challenges that can hinder adherence, hormonal control, and transition to independence.
View Article and Find Full Text PDFInvestigation of cardiac remodeling and cardiac function on fetuses conceived via artificial reproductive technologies: a review.
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1st Department of Obstetrics and Gynecology, School of Health Sciences, National and Kapodistrian University of Athens, Athens, Greece.
The prevalence of artificial reproductive technologies (ART), such as intra-uterine insemination (IUI), fertilization (IVF), and intracytoplasmic sperm injection (ICSI), has surged in response to the global increase in infertility rates, now impacting 17.5 % of couples. With over nine million babies born through ART, the safety and efficacy of these methods are largely recognized; however, emerging concerns regarding their association with prenatal and long-term health risks, especially cardiovascular disease (CVD), necessitate a thorough examination.
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