A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report
ABSTRACT A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1.
Muhammad Wajid Siddique +5 more
wiley +1 more source
Hepatocellular carcinoma in Fontan-associated liver disease: Incidence, risk stratification, and surveillance implications. [PDF]
Onishi H +5 more
europepmc +1 more source
Abstract Objectives To evaluate the prognostic value of peripheral immune markers and their static and dynamic changes during different treatment stages in patients with hepatitis B virus (HBV)‐related unresectable hepatocellula carcinoma (uHCC) receiving transarterial chemoembolisation (TACE) combined with immune checkpoint inhibitors (ICIs) and anti ...
Lihao Qin +6 more
wiley +1 more source
Optimizing early screening for hepatocellular carcinoma: Diagnostic value of ultrasonography combined with serum biomarkers. [PDF]
Yan S.
europepmc +1 more source
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher +2 more
wiley +1 more source
Pediatric Alpha-Fetoprotein-Producing Gastric Cancer Presenting With Dysphagia and Multiple Liver Tumors. [PDF]
Hirano T +10 more
europepmc +1 more source
Successful propranolol therapy for infantile hepatic hemangioma with cardiac failure
Abstract Infantile hepatic hemangioma (IHH) can cause severe complications such as high‐output cardiac failure and growth faltering, requiring prompt diagnosis and intervention. In the absence of standardized treatment guidelines, propranolol has emerged as an effective and well‐tolerated therapy.
Fadhel Al Ateeqi +4 more
wiley +1 more source
Electronic nose versus gas chromatography - mass spectrometry for diagnostic discrimination of advanced hepatocellular carcinoma by volatolomic analysis. [PDF]
Mahmoud MS +5 more
europepmc +1 more source
ABSTRACT Southeast Asian (SEA) countries face persistent challenges in equitable healthcare delivery. Given the high prevalence of aneuploidy, increasing use of advanced prenatal screening technologies, and challenges reported in other regions, this study aimed to identify and assess existing policies and guidelines as well as the enablers and barriers
Rapphon Sawaddisan +3 more
wiley +1 more source
Evaluating the GALAD Score for Detection of Hepatocellular Carcinoma in Patients With Cirrhosis. [PDF]
Vo TD, Mai SH, Lam HT.
europepmc +1 more source

