Results 121 to 130 of about 15,568 (286)

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia

Biomédica: revista del Instituto Nacional de Salud
Introduction. Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy.
Diego Medina, Jhonier Orlando Castro, David Esteban Castro, Estefanía Beltrán, Eliana Manzi, Alexis Antonio Franco, Manuela Olaya   +6 more
doaj   +1 more source

A multicentre analysis of efficacy, safety and molecular response correlates of fostamatinib in warm autoimmune haemolytic anaemia and Evans syndrome

British Journal of Haematology, EarlyView.
Fostamatinib had 46% durable response, with 73% steroid reduction, in this multicentre retrospective study of refractory wAIHA/ES. Hypertension, gastrointestinal (GI) distress and neutropenia occurred in 23%. Only one patient required drug discontinuation and one patient dose reduction.
Jorge N. Ruiz Lopez, Lipei Shao, Debbie Jiang, Lawrence S. Bailey, Thejaswi Bikkani, Aaron Boothby, Donald C. Moore, Irina Murakhovskaya, Caroline I. Piatek, Mauricio Pineda‐Roman, Ping Jin, Jacqueline N. Poston, Moritz Stolla, David F. Stroncek, Krystalyn E. Hudson, James B. Bussel, Sandhya R. Panch   +16 more
wiley   +1 more source

Inborn Errors of Immunity in Adults with Autoimmune Liver Diseases

The Turkish Journal of Gastroenterology
Background/Aims: Inborn errors of immunity (IEI) may associate with autoimmune diseases, including autoimmune liver diseases (AILD). However, both the IEI frequency and secondary effects of immunosuppressives are unknown in patients with AILD due to the ...
Şefika Nur Ayar, Elif Soyak Aytekin, Cem Şimşek, Osman Dağ, Deniz Çağdaş, Yasemin H. Balaban   +5 more
doaj   +1 more source

Amyloid‐β aggregates induce vasculopathy via ferroptosis in brain endothelial cells

Brain Pathology, EarlyView.
Blood–brain barrier (BBB) disruption is evident in brains with amyloidopathy. In this study, we demonstrate that amyloid β (Aβ) drives abnormal lipid metabolism and lipid droplet formation in brain endothelial cells, leading to lipid peroxidation and ferroptosis.
Suhyeon Son, Suji Kim, Min‐Tae Jeon, Moonseok Choi, Kyu‐Sung Kim, Suji Lee, Seung‐Yeol Nah, Do‐Geun Kim   +7 more
wiley   +1 more source

Reply to “The early history of the ESID registry”Reply to “The early history of the ESID registry” [PDF]

Journal of Human Immunity
Markus G. Seidel
doaj   +1 more source

Mucosal-Associated Invariant T (MAIT) cells are impaired in Th17 associated primary and secondary immunodeficiencies

The recently described Mucosal Associated Invariant T (MAIT) cells mediate specific recognition of bacterial and fungal vitamin B2 metabolites. As innate T cells, they possess broad effector responses, including IFN- including Iproduction, that are ...
Barcenas-Morales, Gabriela, Döffinger, Rainer, Eren, Efrem, Faust, Saul N., Gao, Yifang, Ottensmeier, Christian H., Rae, William, Ramakrishnan, Keseva, Williams, Anthony P.   +8 more
core   +1 more source

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source