Results 41 to 50 of about 50,114 (246)

Natural Resistance to Ovarian Hyperstimulation Syndrome in Estrildid Finches Reveals Macrophage GPR183 as a Potential Therapeutic Target

Advanced Science, EarlyView.
Ovarian macrophage depletion reverses OHSS resistance in estrildid finches and exacerbates OHSS symptoms in rats. Activating macrophage GPR183 alleviates OHSS by reducing pro‐inflammatory factors, increasing immunomodulatory molecules, remodeling CD44/SDC4‐mediated communication, and restoring immune homeostasis.
Xiaofei Yan, Yongjie Huang, Jiabao Yang, Su Ma, Songsong Liu, Xuan Huang, Juergen Brosius, Huaping Zheng, Bing Yao, Li Chen, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source

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

American Journal of Hematology, EarlyView.
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, EarlyView.
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

Unveiling the hidden: acquired pediatric hypothyroidism

Frontiers in Endocrinology
Acquired hypothyroidism is the most common thyroid disorder in children, with Hashimoto thyroiditis representing the leading cause in iodine-sufficient regions.
Mariacarolina Salerno, Mariacarolina Salerno, Donatella Capalbo, Donatella Capalbo, Mariella Valenzise, Raffaella Di Mase, Letteria Anna Morabito, Chiara Centonze, Malgorzata Gabriela Wasniewska   +8 more
doaj   +1 more source

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Frontiers in Endocrinology, 2019
Background: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs.
Hussein Majdoub, Serge Amselem, Marie Legendre, Shoshana Rath, Dani Bercovich, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover   +6 more
doaj   +1 more source

A cross-sectional study to know the prevalence of thyroid dysfunction in systemic lupus erythematosus

National Journal of Physiology, Pharmacy and Pharmacology, 2023
Background: Systemic lupus erythematosus (SLE) is a persistent autoimmune disease, the pathogenesis of which remains elusive. Autoimmune factors may be a cause of SLE and thyroid dysfunction.
Rakesh Anand, Partha Mandal, Narendra Nath Hait, Brahmarshi Das   +3 more
doaj   +1 more source

Clinical and Laboratory Characterization of Acquired Von Willebrand Syndrome

American Journal of Hematology, EarlyView.
ABSTRACT Acquired von Willebrand Syndrome (AVWS) is a rare bleeding disorder characterized by quantitative or qualitative defects of von Willebrand factor (VWF) in patients without a personal or family history of bleeding. It is frequently associated with systemic diseases, particularly lymphoproliferative disorders (LPDs) and myeloproliferative ...
Alessandro Ciavarella, Luciano Baronciani, Omid Seidizadeh, Paola Colpani, Elio Ingenito, Daniele Cattaneo, Maria Teresa Pagliari, Addolorata Truma, Alessandra Iurlo, Simona Maria Siboni, Flora Peyvandi   +10 more
wiley   +1 more source

Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review

Frontiers in Endocrinology
IntroductionTurner syndrome is a common sex chromosome disorder characterized by short stature, gonadal dysgenesis, and hypergonadotropic hypogonadism.
Fanyu Lin, Fanyu Lin, Jing Zeng, Jing Zeng   +3 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Case series of unusual cases of hypothyroidism-induced pericardial effusion

Journal of Family Medicine and Primary Care
Hypothyroidism is an endocrine disorder with a high worldwide prevalence and diverse clinical presentation and can affect multiple organ systems. It can be asymptomatic and subclinical or overtly symptomatic and can prove to be fatal if left untreated ...
Ratnakar Sahoo, Tanvi Sirohi, Ravi Talapa, Imnajungla Jamir   +3 more
doaj   +1 more source