Serum bile acid and unsaturated fatty acid profiles of non-alcoholic fatty liver disease in type 2 diabetic patients.

Background: The understanding of bile acid (BA) and unsaturated fatty acid (UFA) profiles, as well as their dysregulation, remains elusive in individuals with type 2 diabetes mellitus (T2DM) coexisting with non-alcoholic fatty liver disease (NAFLD). Investigating these metabolites could offer valuable insights into the pathophy-siology of NAFLD in T2DM.

Aim: To identify potential metabolite biomarkers capable of distinguishing between NAFLD and T2DM.

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.

Objectives: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA.

Method: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects.

[Association between the change in the job facilitating and inhibiting factors of care staff due to the employment of older assistant workers and the emotional exhaustion among care staff].

Objectives　The mental health condition of care staff in Japan is becoming problematic. Older assistant workers are currently being employed to assist care staff with their jobs and alleviate their job burden. This employment of older assistant workers is drawing attention; however, their influence on the job facilitating and inhibiting factors of care staff and the association with the care staff's emotional exhaustion remains unclear.

High expression of peroxisomal D-bifunctional protein in cytosol regulates apoptosis and energy metabolism of hepatocellular carcinoma cells via PI3K/AKT pathway.

Peroxisomal D-bifunctional protein (DBP) is an indispensable enzyme of the fatty acid β-oxidation in the peroxisome of humans. However, the role of DBP in oncogenesis is poorly understood. Our previous studies have demonstrated that DBP overexpression promotes hepatocellular carcinoma (HCC) cell proliferation.

Neuroendocrine tumour of the descending part of the duodenum complicated with schwannoma: A case report.

Background: No known case of neuroendocrine tumour (NET) with schwannoma has been reported.

Case Summary: A 63-year-old female presented to our hospital with nausea and vomiting. Upper gastrointestinal endoscopy revealed a mass in the descending part of the duodenum.

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia.

Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal period. Genomic DNA was extracted from the peripheral blood of the female proband and her family members. The variation was detected in the patient by whole-exome sequencing (WES), and the variant was validated by Sanger sequencing.

Extranodal NK/T-cell lymphoma, nasal type: a case report of 7-year natural course and review of literature.

We present our experience a vary case of Extranodal natural killer (NK)/T-cell lymphomas, nasal type (ENKL) who survived for 7 years, and review the recent advances on the differential diagnosis.