Results 91 to 100 of about 49,728 (243)

Prevalence and clinical profile of hepatitis C virus infections in multitransfused thalassemic patients in the capital twin cities of Pakistan [PDF]

open access: yesBrazilian Journal of Biology
Hepatitis C virus (HCV) presents a significant global health concern, affecting 3.3% of the world's population. The primary mode of HCV transmission is through blood and blood products.
Z. Z. Piracha   +12 more
doaj   +1 more source

Australian clinical practice guideline: diagnosis and treatment of idiopathic multicentric Castleman disease

open access: yesInternal Medicine Journal, EarlyView.
Abstract Idiopathic multicentric Castleman disease (iMCD) is a rare condition. The pathogenesis is incompletely understood; however, interleukin‐6 (IL‐6) is a major mediator. The clinical presentation is heterogeneous, from mild constitutional symptoms to severe multi‐organ failure.
Dipti Talaulikar   +16 more
wiley   +1 more source

Clinicohematological profile of hepatomegaly and or splenomegaly at tertiary care centre

open access: yes
Background: Hepatomegaly and splenomegaly have varied causes, including infections, hematologic disorders, and malignancies. Timely diagnosis is essential for effective management.
Gupta, Ishankkumar P.   +3 more
core   +1 more source

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B

open access: yesJAAD Case Reports, 2020
Yelena Dokic, BSA   +6 more
doaj   +1 more source

Efficacy of Ultrasound for the Detection of Possible Fatty Liver Disease in Children

open access: yesDiagnostics
Pediatric MASLD (previously referred to as NAFLD) incidence has continued to rise along with the obesity pandemic. Pediatric MASLD increases the risk of liver fibrosis and cirrhosis in adulthood.
Sarah B. Lowry   +9 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

open access: yesInternal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

A 29-year-old male with consolidations and tree-in-bud opacities in the left lower lobe, ground-glass opacities right lower lobe, splenomegaly and hepatomegaly.

open access: yes, 2020
A 29-year-old male with consolidations and tree-in-bud opacities in the left lower lobe, ground-glass opacities right lower lobe, splenomegaly and hepatomegaly.
Roque Pacheco de Almeida (8379114)   +5 more
core   +1 more source

Polycystic liver disease: An uncommon genetic condition

open access: yesClinical Case Reports
Key Clinical Message Timely recognition, accurate diagnosis, and proper management are vital for preventing complications and improving outcomes in polycystic liver disease. Abstract Polycystic liver disease is an uncommon genetic condition characterized
Faten Limaiem, Mohamed Hajri
doaj   +1 more source

Defective adipose tissue development associated with hepatomegaly in cathepsin E-deficient mice fed a high-fat diet

open access: yes, 2014
Cathepsin E is an intracellular aspartic proteinase, which is predominantly distributed in immune-related and epithelial cells. However, the role of the enzyme in adipose tissues remains unknown.
Yamamoto, Kenji   +5 more
core   +1 more source

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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
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

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