Results 161 to 170 of about 53,350 (292)

Complete Blood Count Parameters and Bone Health: Clinical and Experimental Evidence (Endocrinol Metab 2025;40:811-20, Jeonghoon Ha et al.). [PDF]

Endocrinol Metab (Seoul)
Tramontana F, Quinton R.
europepmc   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, Volume 101, Issue 8, Page 1856-1865, August 2026.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Correction of Ineffective Erythropoiesis and Normalization of Iron Homeostasis After Exagamglogene Autotemcel in Transfusion‐Dependent β‐Thalassemia

American Journal of Hematology, Volume 101, Issue 8, Page 1969-1979, August 2026.
ABSTRACT Exagamglogene autotemcel (exa‐cel) is a one‐time, ex vivo, CRISPR‐Cas9 gene edited cell therapy approved for patients with transfusion dependent β‐thalassemia (TDT) aged 12–35 years. In a Phase 3 study (CLIMB THAL‐111), exa‐cel treatment resulted in reactivation of fetal hemoglobin and increases in total hemoglobin, leading to transfusion ...
Sujit Sheth, Selim Corbacioglu, Josu de la Fuente, Mattia Algeri, Joachim Rupprecht, Kevin H. M. Kuo, Ami J. Shah, Peter Lang, Hayley Merkeley, Ben Carpenter, Markus Y. Mapara, Robert I. Liem, Stephan Grupp, Yogi Chopra, Amanda M. Li, Janet L. Kwiatkowski, Melanie Kirby‐Allen, Maria Domenica Cappellini, Antonis Kattamis, Sakellarios Zairis, Tina Liu, William Hobbs, Haydar Frangoul, Franco Locatelli, Roland Meisel, on behalf of the CLIMB THAL‐111 and CLIMB‐131 Study Groups   +25 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1773-1782, August 2026.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism. [PDF]

JCEM Case Rep
Agarwal P, Mithal A, Balakrishnan K, Tanguturu MK, Genny SRK.   +4 more
europepmc   +1 more source

The Male Hypogonadisms

International Journal of Clinical Practice, 1953
openaire   +2 more sources

Progressive Cerebellar Dysfunction, Pituitary Insufficiency, and Severe Skeletal Fragility in Adult Survivorship of Childhood Multisystem Langerhans Cell Histiocytosis: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Childhood‐onset multisystem Langerhans cell histiocytosis can lead to delayed adult morbidity involving the neurologic, hypothalamic–pituitary, and skeletal systems. Progressive cerebellar dysfunction, chronic pituitary insufficiency, and severe skeletal fragility may emerge years after apparent disease control, underscoring the need for ...
Suhaib Alnahar, Alaa Senjab, Sara Gharib, Zena Gharib, Lama Hadid   +4 more
wiley   +1 more source

Evaluation of Leydig cell activity using single-dose hCG stimulation in prepubertal children suspected of hypogonadism: experience from a tertiary institution. [PDF]

Ann Pediatr Endocrinol Metab
Manohar RO, Nagarajappa VH, Narasimhegowda M, Relangi LD.   +3 more
europepmc   +1 more source

Association of Testosterone With Lean Soft Tissue and Handgrip Strength Across Middle‐Aged Men

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Testosterone declines by 0.4%–2% annually after the age of 30 and is potentially linked with muscle mass and strength. This study examined how testosterone levels are associated with handgrip strength (HGS) and appendicular lean soft tissue index (ALSTI) in men aged 40–49 and 50–59 years.
Konstantinos Prokopidis, Stefano Cacciatore, Joseph McLean, Paolo Piaggi, Carla M. Prado, John A. Batsis, Mathias Schlögl   +6 more
wiley   +1 more source

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

Muscle &Nerve, Volume 74, Issue 2, Page 433-439, August 2026.
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