Results 101 to 110 of about 37,654 (251)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Complex Lymphatic Anomaly Presenting with Chylothorax, Chylous Ascites, and Generalized Subcutaneous Edema in a Young Cat: Comparative Insights Based on the Human ISSVA Classification

Veterinary Sciences
In human medicine, the 2025 International Society for the Study of Vascular Anomalies (ISSVA) classification distinguishes localized lymphatic malformations from systemic disorders referred to as complex lymphatic anomalies (CLAs), including generalized ...
Kazuyuki Terai, Aki Takeuchi, Ikki Mitsui, Tomohiro Yoshida, Akari Hatanaka, Ahmed Farag, Ryou Tanaka   +6 more
doaj   +1 more source

Eltrombopag Added to Standard Immunosuppressive Treatment as Front‐Line Therapy for Severe Aplastic Anemia: Long‐Term Outcomes of the Phase‐3 Randomized Superiority EBMT‐SAAWP RACE Study

American Journal of Hematology, EarlyView.
ABSTRACT The RACE study (NCT02009747) compared horse antithymocyte globulin (hATG) plus cyclosporine A (CsA) ± eltrombopag as initial immunosuppressive treatment (IST) for severe aplastic anemia. Here we report the final 2‐year analysis of this prospective randomized phase III study.
Antonio M. Risitano, Simona Iacobelli, Austin Kulasekararaj, Marleen van Os, Sofie R. Terwel, Joe Tuffnell, Brian Piepenbroek, Morag Griffin, Constantijn J. M. Halkes, Christian Recher, Fiorenza Barraco, Edouard Forcade, Juan Carlos Vallejo, Beatrice Drexler, Jean‐Baptiste Mear, Roochi Trikha, Shreyans Gandhi, Anna Maria Raiola, L. G. M. Daenen, Marco R. de Groot, Etienne Daguindau, Erfan Nur, Wilma Barcellini, Nigel H. Russell, Louis Terriou, Anna Paola Iori, Walter Barberi, Anna Sureda, Isabel Sánchez‐Ortega, Blanca Xicoy, Isidro Jarque, James Cavenagh, Flore Sicre de Fontbrune, Camilla Frieri, Talha Munir, Jennifer M. L. Tjon, Suzanne Tavitian, Aline Praire, Laurence Clement, Florence Rabian, Luana Marano, Anita Hill, Elena Palmisani, Petra Muus, Serena Marotta, Fabiana Cacace, Marica Laurino, Jakob R. Passweg, Gérard Socié, Ghulam J. Mufti, Carlo Dufour, Régis Peffault de Latour, Severe Aplastic Anaemia Working Party of the EBMT   +52 more
wiley   +1 more source

Right lower limb lymphatic aplasia in lymphoscintigraphy: a case report

Journal of Medical Case Reports
Background Primary lymphedema, affecting 1.15 per 100,000 individuals, under 20 years is rare. It includes three types: major vessel abnormalities, congenital lymphatic valvular incompetence or aplasia, and lymph node fibrosis. This condition arises from
Prayash Paudel, Neetika Paudel, Manish Timalsina   +2 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Microsurgical central lymphatic reconstruction—the role of thoracic duct lymphovenous anastomoses at different anatomical levels

Frontiers in Surgery
IntroductionIn recent years advances have been made in the microsurgical treatment of congenital or acquired central lymphatic lesions. While acquired lesions can result from any surgery or trauma of the central lymphatic system, congenital lymphatic ...
Andrea Weinzierl, Lisanne Grünherz, Gilbert Dominique Puippe, Ralph Gnannt, Donata von Reibnitz, Pietro Giovanoli, Pietro Giovanoli, Diana Vetter, Ueli Möhrlen, Ueli Möhrlen, Moritz Wildgruber, Andreas Müller, Claus Christian Pieper, Christian Alexander Gutschow, Nicole Lindenblatt, Nicole Lindenblatt   +15 more
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

An advanced 3D lymphatic system for assaying human cutaneous lymphangiogenesis in a microfluidic platform

NPG Asia Materials
The human cutaneous lymphatic system strictly controls lymphatic functions by coordinating with skin cells. The lymphatic system plays important roles in removing cell waste, residual proteins, various antigens, and immune cells from tissues to maintain ...
Minseop Kim, Sieun Choi, Dong-Hee Choi, Jinchul Ahn, Dain Lee, Euijeong Song, Hyun Soo Kim, Mijin Kim, Sowoong Choi, Soojung Oh, Minsuh Kim, Seok Chung, Phil June Park   +12 more
doaj   +1 more source

A mouse model of mechanical stress injury to the basal ganglia using thermosensitive PNIPAM hydrogel for intracerebral hemorrhage research

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a novel mouse model of intracerebral hemorrhage (ICH) by stereotactically injecting thermosensitive PNIPAM hydrogel into the internal capsule to impose localized mechanical stress on the corticospinal tract, which provides a straightforward and reproducible tool for preclinical studies on focal mechanical stress–induced ...
Mingxi Li, Yujie Chen, Rongsu Huang, Min Xia, Chao Mi, Yuan Tian, Peiwen Guo, Taotao Jin, Shilei Hao, Hua Feng, Yujie Chen, Zhi Chen   +11 more
wiley   +1 more source