Results 71 to 80 of about 53,137 (275)

Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aim Optimizing Management of Endocrine Complications in Duchenne Muscular Dystrophy (OPTIMIZE DMD) is an international consortium of clinicians created to advance endocrine and bone clinical care in DMD. The aim of this study was to better understand current views and practices regarding investigation and management of growth and ...
Claire L. Wood, Funmbi Babalola, Robert W. Benjamin, Carol Lam, Laura McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena Scavina, Julia C. Sorbara, Alexandra Ahmet, Susan Apkon, Sonum Bharill, Melissa Fiscaletti, Kathi Kinnett, Hugh J. McMillan, Nadia Merchant, Nat Nasomyont, Maria Fernanda Ochoa Molina, Nora E. Renthal, Pamela Smith, Prasanth N. Surampudi, Jaclyn G. Tamaroff, Cuixia Tian, Leanne M. Ward, David R. Weber, Sze Choong (Jarod) Wong, Janet L. Crane, Meilan M. Rutter, on behalf of the OPTIMIZE DMD Consortium, Leanne M. Ward, Pat Furlong, David R. Weber, Sze Choong (Jarod) Wong, Hugh J. McMillan, Meilan M. Rutter, Susan Apkon, Roozbeh Pourziaei Manesh, Mei Wang, Anne Marie Sbrocchi, David R. Weber, Alexandra Ahmet, Aravindhan Veerapandiyan, Medical Sciences, Hugh J. McMillan, Sze Choong (Jarod) Wong, Kathryn A. Selby, Maria‐Elena Lautatzis, Rachel Schrader, Kathi Kinnett, Meilan M. Rutter, Claire L. Wood, Anne Marie Sbrocchi, Carol Lam, Funmbi Babalola, Janet L. Crane, Julia C. Sorbara, Laura McAdam, Robert Benjamin, Stefan Nicolau, Mena Scavina, Leanne M. Ward, Sze Choong (Jarod) Wong, Kim Phung, Nat Nasomyont, Anne Marie Sbrocchi, Cuixia Tian, David R. Weber, Janet L. Crane, Maria Fernanda Ochoa Molina, Meilan M. Rutter, Melissa Fiscaletti, Nadia Merchant, Paula R. Clemens, Rana Halloun, Shipra Bansal, Stefan Nicolau, Pat Furlong, Susan Apkon, Nora E. Renthal, Amanda M. Appel, Aravind Veerapandiyan, Medical Sciences, Claire L. Wood, Gabriela Vargas, Lindsey E. Bratland, Nat Nasomyont, Natalie Truba, Prasanth N. Surampudi, Janet Hoskin, Colin Werth, Patrick Moeschen, Nadia Merchant, Jaclyn Tamaroff, Christopher Lewis, Cuixia Tian, Diana X. Bharucha‐Goebel, Philip Zeitler, Laura McAdam, Maria‐Elena Lautatzis, Meilan M. Rutter, Ryan Farrell, Rainbow Babies, Rana Halloun, Sonum Bharill, Sze Choong (Jarod) Wong, Pat Furlong, Luca Bello, Chiara Panicucci, Clelia Cipolla, Danilo Fintini, Natascia Di Iorgi, Child Health, Sabrina Corbetta, Francesca Cumbo, Alberto Ferlin, Francesco Francini, Luisa De Sanctis, Tommaso Aversa, Gianluca Tornese, Burlo Garofolo, Eugenio Maria Mercuri, Elena Mularoni, Maria Grazia D'Angelo, Bosisio Parini, Chiara Arpaia, Silvia Carrara, Pieve Emanuele, Ilaria Zito, Fernanda de Angelis, Fabiana Boccia, Gaia Relucenti, Filippo Buccella   +131 more
wiley   +1 more source

Selective estrogen receptor modulators and aromatase inhibitors in the treatment of functional male hypogonadism

Endokrynologia Polska
Functional hypogonadism is a syndrome characterized by low testosterone levels and clinical features of hypogonadism without organic disease of the hypothalamus–pituitary–gonadal axis.
Jakub Wydra, Arnika Wydra, Piotr Kucharczyk, Grzegorz Kapuściński, Wojciech Zgliczyński, Michał Rabijewski   +5 more
doaj   +1 more source

Stage IIIC Bilateral Dysgerminoma in a 16-Year-Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Vasef M, Afshar Moghaddam N, Raoufi M, Iranipour M, Moghadami S.   +4 more
europepmc   +2 more sources

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

Hypogonadism in thalassemia major patients

, 2016
Despite recent advances in iron chelation therapy, excess iron deposition in pituitary gonadotropic cells remains one of the major problems in thalassemic patients.
Boonsong Ongphiphadhanakul, Srisukh, Sasima, Pongamorn Bunnag, Ongphiphadhanakul, Boonsong, Sasima Srisukh, Bunnag, Pongamorn   +5 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Nasal delivery of nerve growth factor rescue hypogonadism by up-regulating GnRH and testosterone in aging male miceResearch in context

EBioMedicine, 2018
Background: Nerve growth factor (NGF) plays essential roles in regulating the development and maintenance of central sympathetic and sensory neurons. However, the effects of NGF on hypogonadism remain unexplored.
Jiao Luo, Yan Yang, Tiantian Zhang, Zhijian Su, Dan Yu, Qilian Lin, Haolin Chen, Qihao Zhang, Qi Xiang, Wei Xue, Renshan Ge, Yadong Huang   +11 more
doaj   +1 more source

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ, Seminara, SB, Habiby, RL, Bick, DP, Kotlar, TJ, Gu, WX, Hindmarsh, PC, Achermann, JC, Crowley, WF, Sabacan, LP, Sherins, RJ, Layman, LC, Jameson, JL   +12 more
core  

Male Central Hypogonadism in Paediatrics - the Relevance of Follicle-stimulating Hormone and Sertoli Cell Markers [PDF]

, 2018
The definition of male hypogonadism used in adult endocrinology is not fully applicable to paediatrics. A clear understanding of the developmental physiology of the hypothalamic-pituitary-testicular axis is essential for the comprehension of the ...
Grinspon, Romina, Urrutia, Mariela, Rey, Rodolfo Alberto   +2 more
core   +1 more source

Assessing the utility of a natural language processing model in answering common urological questions

UroPrecision, EarlyView.
ABSTRACT Background ChatGPT, an interactive natural language processing model, is becoming increasingly used for medical information gathering. The objective of this study is to investigate the appropriateness of ChatGPT's responses to common urological questions compared to the Canadian Urological Association (CUA) guideline recommendations. Methods A
Wyatt MacNevin, John‐David Brown, Nicholas Dawe, Jesse T. R. Spooner, Nicholas R. Paterson, Daniel T. Keefe, David G. Bell   +6 more
wiley   +1 more source