Results 101 to 110 of about 149,411 (262)

Recent Advances in Functional Liver Volumetry: Emphasis on 99mTc‐GSA SPECT/CT Fusion Imaging

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
Functional liver volumetry enables more accurate assessment of the future liver remnant by integrating anatomical and functional information, improving risk stratification before major hepatectomy. Among available techniques, 99mTc‐GSA SPECT/CT fusion imaging enables precise regional functional assessment and more reliable prediction of post ...
Toru Beppu   +4 more
wiley   +1 more source

Xstainer: A Novel Virtual Staining Tool Powered by Advanced Deep Learning Techniques

open access: yesAdvanced Intelligent Systems, EarlyView.
Xstainer is a deep learning–based virtual staining framework that converts hematoxylin and eosin‐stained whole slide images into multiple histochemical stains, including Masson's trichrome, Periodic acid‐Schiff, Jones methenamine silver, and Toluidine blue.
Fatma Nur Kinali   +15 more
wiley   +1 more source

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

open access: yesAmerican 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   +19 more
wiley   +1 more source

Determinants of Long‐Term Benefit From High Dose Melphalan With Autologous Stem Cell Transplant in AL Amyloidosis

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT High dose melphalan (HDM) with autologous stem cell transplant is an established treatment for systemic light chain amyloidosis, but its incremental benefit in the era of effective standard intensity therapy is unknown. We retrospectively analyzed 475 transplant‐eligible patients who completed standard intensity treatment with or without HDM ...
Maximilian J. Steinhardt   +23 more
wiley   +1 more source

Efficacy and Safety of Sonidegib in the Treatment of Multiple Facial Cutaneous Basal Cell Carcinomas with Chronic Renal Insufficiency: A Case Report

open access: yesClinical, Cosmetic and Investigational Dermatology
Wenwen Jing,1– 5 Junwu Yang,1– 5 Zhicheng Gong,1– 5 Weiqi Lei,1– 5 Zhenhua Zhang,1– 5 Wen Bin Rao,1– 5 Yong Ai1– 5 1Department of Dermatologic Surgery, Dermatology Hospital of Jiangxi Province, Nanchang, People’s Republic of China; 2Department of ...
Jing W   +6 more
doaj  

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura   +2 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

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