Results 41 to 50 of about 60,964 (282)

A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations

Frontiers in Pediatrics, 2019
Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth.
Meili Wei, Aiqin Han, Liping Wei, Liji Ma   +3 more
doaj   +1 more source

Cytophagic Histiocytic Panniculitis (CHP) in a Patient with SLE Found after Autopsy: When a Rash Is "Complicated!" [PDF]

, 2019
Introduction: Cytophagic histolytic panniculitis (CHP) is a clinical disorder characterized by nodular panniculitis of the subcutaneous adipose tissue. It was first described in 1980 by Winkelmann.
Abbas, Hafsa, Aslam, Ahsan, Chilimuri, Sridhar, Niazi, Masooma, Saad, Muhammad   +4 more
core   +1 more source

Diagnostic conundrum of progressive pallor and hepatosplenomegaly in a toddler

Journal of Applied Hematology, 2021
Progressive pallor with hepatosplenomegaly is an alarming constellation of signs in children indicating a serious, ongoing disease process which has to be investigated for.
Padmapriya Balakrishnan, Thirunavukkarasu Arun Babu, Vijayan Sharmila   +2 more
doaj   +1 more source

Myristic acid potentiates palmitic acid-induced lipotoxicity and steatohepatitis associated with lipodystrophy by sustaning de novo ceramide synthesis. [PDF]

, 2015
Palmitic acid (PA) induces hepatocyte apoptosis and fuels de novo ceramide synthesis in the endoplasmic reticulum (ER). Myristic acid (MA), a free fatty acid highly abundant in copra/palmist oils, is a predictor of nonalcoholic steatohepatitis (NASH) and
Alarcón-Vila, C, Baulies, A, Caballeria, J, Casas, J, Elena, M, Fabriàs, G, Fernandez-Checa, JC, García-Ruiz, C, Martinez Gili, L, Torres, S   +9 more
core   +2 more sources

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

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

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
doaj   +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
doaj   +1 more source

Hepatosplenic T Cell Lymphoma in an Immunocompetent Female Diagnosed using Flow Cytometry: A Rare Clinical Entity [PDF]

Journal of Clinical and Diagnostic Research, 2016
Hepatosplenic T-cell lymphoma is a rare haematopoietic malignancy that comprises less than 1% of Non-Hodgkin lymphomas. We are reporting a case of a 26-year-old female, who presented with pallor, weight loss, jaundice, pancytopenia and ...
Pranav Dorwal, Ritesh Sachdev, Amit Pande, Dharmendra Jain, Bhawna Jha, Vimarsh Raina   +5 more
doaj   +1 more source

Coexisting Sickle Cell Anemia and Sarcoidosis: A Management Conundrum! [PDF]

, 2017
Sickle cell disease and Sarcoidosis are conditions that are more common in the African American population. In this report we share an unfortunate patient who had hepatic sarcoidosis but could not receive steroids since that precipitated acute liver ...
Gollahalli, Nagesh S., Nutan, FNU
core   +3 more sources