Results 51 to 60 of about 37,879 (224)

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis

American Journal of Perinatology Reports, 2015
Background Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome. Fetal onset FHL is extremely rare and is considered to be the most severe form of FHL.
Sota Iwatani, Kazuya Uemura, Masami Mizobuchi, Seiji Yoshimoto, Keiichiro Kawasaki, Yoshiyuki Kosaka, Masayuki Hori, Takahiro Yasumi, Hideto Nakao   +8 more
doaj   +1 more source

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

Breastfeeding-associated congenital syphilis in an infant of a seronegative mother: a case report

Zdorovʹe Rebenka
Syphilis, caused by Treponema pallidum, can be transmitted congenitally from mother to child during pregnancy, delivery, or even after birth. This case report presents an unusual manifestation: a 1-month and 25-day-old male infant diagnosed with ...
Samuel Sembor, Diah Ayu Pitaloka
doaj   +1 more source

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency

Case Reports in Gastroenterology, 2019
Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium.
Maria Zharkova, Tatiana  Nekrasova, Vladimir  Ivashkin, Marina  Maevskaya, Tatyana Strokova   +4 more
doaj   +1 more source

A practical difference from the normal approach to evaluate natural killer (NK) cells and NK cell neoplasms by flow cytometry

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Natural killer (NK) cell neoplasms span indolent to highly aggressive entities, and flow cytometric immunophenotyping is central to their detection and classification. However, distinguishing reactive from neoplastic NK cell expansions can be challenging because NK cells lack somatically recombined antigen receptors, and reactive states may ...
Aaron J. Wilk, Afshin Shameli, Erik Ames, Jonathan R. Fromm, Bartosz Grzywacz, Min Shi, Sindhu Cherian, Jean Oak   +7 more
wiley   +1 more source

Aetiology Of Pyrexia With Hepatosplenomegaly: Study Of 50 Cases In MMCH (Bangladesh)

, 1970
Pyrexia with hepatosplenomegaly is a common problem in medical practice globally, specially in tropical countries. In Bangladesh several tropical diseases as well as hematological malignancies are responsible for such clinical syndrome.
F Ahammad, MY Ali, SA Fattah, S Nahar, MU Hassan, MT Alam, SH Rahman   +6 more
core   +1 more source

Seronegative Antiphospholipid Syndrome: A Challenging Case Report

Clinical Case Reports
Seronegative antiphospholipid syndrome (SN‐APS) is uncommon and challenging condition, which should be included in the differential diagnosis of stroke in young, since it can result in arterial thrombosis.SN‐APS is typically diagnosed by exclusion ...
Eihab A. Subahi, Soha Aboukhalaf, Shahd Mohammedain, Sagda Sayed, Elrazi A. Ali, Mohamed Subahi, Ijaz Kamal   +6 more
doaj   +1 more source

Hepatosplenomegaly in a “Lost Boy of Sudan” [PDF]

Baylor University Medical Center Proceedings, 2007
(2007). Hepatosplenomegaly in a “Lost Boy of Sudan”. Baylor University Medical Center Proceedings: Vol. 20, No. 3, pp. 299-302.
Scott C, Adams, William G, Schucany
openaire   +2 more sources

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

POEMS syndrome: A rare cause of ascites and pelvic effusion

Clinical Case Reports, 2022
POEMS syndrome is a rare clonal plasma cell disease associated with multisystem involvement. We reported a case of 48‐year‐old woman with large volume of exudative ascites with an increased level of λ‐light chain and hepatosplenomegaly.
Jing Ma, Yi Chen, Xiaojin Qin, Xiaogang Liu, Ercui Li, Huijuan Fan, Yandong Xie, Xin Wang   +7 more
doaj   +1 more source