Results 21 to 30 of about 32,645 (198)

Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

Педиатрическая фармакология
This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given.
Inga V. Anisimova, Galina V. Baydakova, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Elena A. Dobrynina, Ekaterina Yu. Zaharova, Elena V. Kaytukova, Elena V. Komarova, Sergey I, Kutsev, Alla E. Lavrova, Svetlana V. Mihaylova, Goar B. Movsisyan, Lyudmila P. Nazarenko, Leyla S. Namazova-Baranova, Ekaterina A. Nikolaeva, Tatiana M. Pervunina, Natalia L. Pechatnikova, Nelya S. Pogosyan, Aleksander S. Potapov, Aleksander A. Pushkov, Svetlana A. Repina, Kirill V. Savostyanov, Liliya R. Selimzyanova, Olga Ya. Smirnova, Natalia S. Smetanina, Tatiana V. Strokova, Andrey N. Surkov, Marina V. Fedoseenko, Tatiana T. Batysheva, Olga V. Bykova, Yuriy A. Klimov, Sergey V. Tihonov   +33 more
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Disseminated Peritoneal Leiomyomatosis: An Unusual Complication of Laparoscopic Myomectomy [PDF]

Journal of Clinical and Diagnostic Research
Disseminated Peritoneal Leiomyomatosis (DPL) is characterised by multiple smooth muscle tissues over the peritoneal surface of the pelvic and abdominal cavity.
R Vaishnavi, Sobha S Nair, S Sudha, PV Nitu   +3 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Thrombocytopenia and hemorrhagic pleural effusion as an initial presentation of polycythemia vera

Journal of Applied Hematology, 2015
Polycythemia vera (PV) is a chronic myeloproliferative disorder in which there is an alteration in the pluripotent progenitor cell leading to excessive clonal proliferation of erythroid, myeloid and megakaryocytic progenitor cells. The natural history of
Amrish Saxena, Sheetal Bodkhe, Deepankar Mishra, Vineeta Singh   +3 more
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From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Malignant infantile osteopetrosis: A rare cause of refractory hypocalcemia

Indian Pediatrics Case Reports, 2023
Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption.
Niraj Kumar Dipak, Nadia Shagufta
doaj   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura, Norio Sakai, Hideaki Hirai, Naoko Takasao, Ryo Ibaraki, Tatsuyoshi Yamamoto, Yuji Sato   +6 more
wiley   +1 more source

Carrier‐free self‐assembled nanomedicine for combination‐therapy of acute myeloid leukemia

BMEMat, EarlyView.
CPDS combines drugs with three different mechanisms of action to achieve a multi‐mechanism combination therapy for AML by directly killing tumor cells and activating anti‐tumor immunity. Abstract As the main acute myeloid leukemia (AML) clinical treatment, the chemotherapy alone cannot meet the clinical therapeutic needs due to the high heterogeneity ...
Meihong Chai, Rui Zhang, Haiyin Yang, Jiyue Xing, Tianyuan Hu, Mengxi Zhu, Rui Li, Xiaoli Chen, Beibei Zhao, Yang Lan, Stefan Barth, Yuanyu Huang, Li Zhang, Mengjie Zhang, Huining He   +14 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Differential diagnostics and correction of metabolic and immunological disorders in patients with hepatic cirrhosis, complicated hepatosplenomegalia and portal hypertension

Актуальні проблеми сучасної медицини, 2019
Summary: The study of the role of the spleen in the pathogenesis of liver cirrhosis is important for treatment. Currently available literature data indicate the role of altered spleen functions in the pathogenesis of liver cirrhosis.
Olena, Tetiana, Rostyslav, Igor, Ekaterina, Olga, Oleksandr   +6 more
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