Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report.

Background: LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have been identified as one of the main causes of severe RM in children in Western countries. The disease is extremely rare in China, and we report a case of acute recurrent RM caused by a novel compound heterozygous LPIN1 variant.

Methylation in Nasopharyngeal Swabs: A Potential Minimally Invasive Biomarker for the Early Detection of Nasopharyngeal Carcinoma.

Nasopharyngeal carcinoma (NPC) is highly prevalent in Southeast Asia, and an unfavorable outcome is usually attributed to advanced stage NPC. Current methods for the early diagnosis of NPC have limitations in clinical practice. The aim of this study was to investigate the diagnostic ability of methylation for NPC.

Giant liposarcoma of the esophagus: A case report.

Liposarcomas rarely develop in the aerodigestive tract. Here, we present a primary esophageal liposarcoma that was discovered between the T3 and T7 levels of the esophagus during right pleural exploration of a 51-year-old male patient. The patient had presented with non-specific symptoms, including progressive dysphagia over the previous 6 mo, without complaints of chest or epigastric pain, regurgitation, or weight loss.

[Relationship of plasma concentration of 5-fluorouracil with toxicity and response in patients with nasopharyngeal carcinoma].

Background & Objective: Because there are several mechanisms of activity and toxicity and inter-individual variation in pharmaco- dynamics of 5-fluorouracil (5-FU),it is difficult to predict the sensitivity and toxicity of 5-FU in an individual patient. This study was designed to assess inter-patient variation of 5-FU steady-state plasma concentration and the relationship of plasma concentration of 5-FU with toxic side effects and therapeutic response.

Methods: Twenty patients with nasopharyngeal carcinoma were treated with 5-FU combined with cisplatin(DDP).

Evidence of a malonyl-CoA-insensitive carnitine palmitoyltransferase I activity in red skeletal muscle.

Carnitine palmitoyltransferase I (CPT I), which is expressed as two distinct isoforms in liver (alpha) and muscle (beta), catalyzes the rate-limiting step in the transport of fatty acid into the mitochondria. Malonyl-CoA, a potent inhibitor of CPT I, is considered a key regulator of fatty acid oxidation in both tissues. Still unanswered is how muscle beta-oxidation proceeds despite malonyl-CoA concentrations that exceed the IC(50) for CPT Ibeta.