Medicine
-
Phosphatase and tension homolog deleted on chromosome 10 (PTEN) was considered as a promising target in type 2 diabetes mellitus (T2DM) because of its negative effects on insulin resistance. Alteration in DNA methylation is thought to play a role in the pathogenesis of T2DM. The aim of the present study was to quantitatively evaluate the promoter methylation of PTEN in Uyghur patients with mild T2DM. ⋯ Furthermore, there was a negative association between promoter methylation and PTEN expression. Together, these findings suggest that epigenetic inactivation of PTEN plays an important role in Uyghur patients with mild T2DM. The aberrant methylation of CpG sites within the PTEN promoter may serve as a potential candidate biomarker for T2DM in the Uyghur population.
-
Antiphospholipid syndrome (APS) combined with acute coronary syndrome (ACS) is rarely reported. ⋯ It was thus concluded that percutaneous coronary intervention (PCI) is effective for APS patients and NeoVas scaffold implantation is presumed safe.
-
Case Reports
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree. ⋯ The common clinical manifestations of MPS IIIA were rapid developmental regression, seizures, cerebral atrophy, and thickened calvarial diploe. The results showed that the c.630 G > T was likely pathogenic according to bioinformatics analysis, which probably was a novel mutation. This study reports 1 case of MPS IIIA with some clinical features as determined via clinical and genetic analysis, and found a new mutation in the SGSH gene.
-
Case Reports
Aldosteronism with mild hypokalemia presenting as life-threatening ventricular arrhythmias: A case report.
Primary aldosteronism (PA) with hypokalemia increases the risk of life-threatening ventricular arrhythmias. Cases of PA with malignant arrhythmia as the first symptom have been reported. The role of severe hypokalemia in triggering malignant ventricular arrhythmia is well documented. However, few cases of PA with mild hypokalemia that presented with life-threatening ventricular tachycardia have been reported. ⋯ In patients with ventricular tachycardia and mild hypokalemia, physicians need to consider that PA and ischemia heart disease may be one of the possible causes of electrical storm.
-
Immunoglobulin G4 related disease (IgG4-RD) rarely coexists with other autoimmune diseases, though we had a patient whose primary clinical problem was shifted from IgG4-RD to systemic lupus erythematosus (SLE) after gastrectomy. The present paper aimed to report pathological findings and clinical course of the patient. ⋯ This study presented a rare case of comorbidity, wherein the patient's primary problem progressed from IgG4-type ANA-positive IgG4-RD to SLE after excision of gastric cancer.