The thorough investigation of three Chinese families with MODY2 revealed two novel mutations and one known mutation. GCK gene sequencing helps in MODY2, especially when there is uncertain IFG or IGT.

Aim: Insulin antibodies (IAs) affects blood glucose control in patients using insulin therapy. We aim to investigate the association between different glucose-lowering treatments and IAs in patients with type 2 diabetic mellitus (T2DM).Methods: In this cross-sectional, retrospective study, patients with T2DM who were using exogenous insulin therapy were included. All the patients had stable antidiabetic therapy in the last 3 months and measured IA levels using the iodine-125 array. Results: A total of 1863 patients were enrolled. There were 902 (48.4%) patients with positive IAs (IA level >5%), and the mean IA level was 11.06 (10.39, 11.72) %. IA level was positively correlated with fasting blood glucose (OR=1.069, p<0.001). The proportion of positive IAs was lowest in patients using glargine only (31.9%) and highest in patients using human insulin only (70.3%), p<0.001. The IA levels in patients using sulfonylureas/glinides (8.3 %), metformin (9.6 %), and DPP-4 inhibitors (8.2 %) were all lower than in patients without these drugs (p all <0.05).Conclusions: IA levels should be measured in patients with long-term insulin therapy. Insulin glargine and the combination of oral glucose-lowering drugs should be considered in IA positive patients.

Background Pulmonary arterial hypertension (PAH) is a hemodynamic state that is characterized by pulmonary vasoconstriction and vascular remodeling, leading to a continuous increase in mean pulmonary arterial pressure, and eventually right heart failure. Mutations of the bone morphogenetic protein type II receptor (BMPR2) gene are the most common genetic cause of PAH. Methods A 52‐year‐old woman was admitted to Shaoxing People's Hospital after suffering from a cough for 2 months. In our hospital, the proband got a thorough medical examination and was diagnosed with PAH following genetic testing. Results Genetic test showed that the proband carried a novel heterozygous c.1481C>T (p.Ala494Val) mutation in the BMPR2 gene. The new mutation was initially discovered as a potential pathogenic variant by bioinformatics research, but it needed to be functionally verified. Conclusions The novel mutation may be related to the development of the PAH. In addition to general examinations, clinicians must thoroughly examine molecular genetics to provide an accurate diagnosis in the clinic, particularly for rare disorders.