A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.

Highlights Maturity-onset diabetes of the young type 6 (MODY6) is a rare form of monogenic diabetes mellitus due to NEUROD1 gene mutation on chromosome 2q32. A 21-year-old woman exhibiting weight loss, polyuria, and hyperglycemia was initially misdiagnosed with type 1 diabetes mellitus. Considering the early-onset age, a three-generation family history of diabetes, and negative autoimmune antibodies, a MODY diagnosis was suspected. Genetic analysis revealed that she inherited a novel heterozygous nonsense NEUROD1 mutation c.747C>G (p.Tyr249*) from her father. Correct MODY6 diagnosis facilitates appropriate interventions.

Enhancing methane production in anaerobic digestion of waste activated sludge by combined thermal hydrolysis and photocatalysis pretreatment.

Thermal hydrolysis (TH) is promising for sludge pretreatment, but the refractory substances generated at high temperatures inhibit anaerobic digestion. In this study, a novel combined TH and photocatalytic pretreatment method was proposed to improve the anaerobic digestion performance of waste activated sludge. The results showed that the combined pretreatment (170 °C, 0.5 g/L TiO2) increased methane yield by 66 % from 111 ± 5 m L/g VS to 185 ± 5 m L/g VS. After TH pretreatment, photocatalysis further promoted sludge solubilization by destroying extracellular polymeric substances, resulting in an increase in released soluble organic matter from 292 ± 16 mg/L to 4,091 ± 85 mg/L. In addition, photocatalysis improved the biodegradability of sludge by reducing the melanoidin and humic acid contents by 26 % and 20 %, respectively. The proposed novel pretreatment method effectively overcomes the bottleneck of TH technology and provides an alternative pretreatment technology for improving sludge resource recovery.

Two case reports of maturity-onset diabetes of the young type 3 caused by the hepatocyte nuclear factor 1α gene mutation.

Maturity-onset diabetes of the young type 3 (MODY3) is a specific type of diabetes mellitus with inherited impairment of the islet ß cell function due to the mutation in the hepatocyte nuclear factor 1α (HNF1α) gene. It is a rare condition and easily misdiagnosed as T1DM or T2DM. In this study, the clinical features of two unrelated Chinese MODY3 probands were described and analyzed. Next-generation sequencing was performed to identify the mutated genes, and Sanger sequencing was employed to verify the location of the pathogenic variant in the related family members. It was found that proband 1 inherited a start codon mutation c.2T>C (p.Met1?) in exon 1 of the HNF1α gene from his affected mother, and proband 2 inherited a frameshift mutation c.1136_1137del (p.Pro379fs) in exon 6 of the HNF1α gene also from her affected mother. Proband 1 and proband 2 differed in islet dysfunction, complications, and treatments due to their different disease durations and levels of hemoglobin A1c (HbA1c). The findings of this study demonstrate that early identification of MODY and diagnosis through genetic testing are critical for the treatment of the patient.