Objective: To summarize the characteristics of muscle-specific receptor tyrosine kinase antibody-positive myasthenia gravis (MuSK-MG) in Northeast China. Methods: We retrospectively collected 183 confirmed MG patients and divided them into three groups based on the type of serum antibodies: MuSK-MG (14 cases), acetylcholine receptor (AChR)-MG (130 cases), and double-seronegative (DSN)-MG (39 cases). The clinical, diagnostic, therapeutic, and prognosis data were analyzed. Results: MuSK antibody was detected in 26.7% of seronegative MG. The mean age of onset in MuSK-MG was 53.2 ± 13.6 years. Fifty percent of MuSK-MG patients with an onset symptom of pure ocular muscle weakness. The time from onset to other muscle groups' involvement and the time from onset to myasthenic crisis had no significant difference among the three groups ( P > 0.05). The proportion of Osserman classification I in MuSK-MG group was lower than that in DSN-MG group. The proportion of Osserman classification IV in MuSK-MG group was higher than that in the other two groups. The incidences of other coexisting autoimmune diseases in MuSK-MG group were higher. Prognosis after the treatment of steroid combined with tacrolimus for MuSK-MG was similar to AChR-MG treated with steroid combined with an immunosuppressant agent ( P > 0.05). Conclusion: Patients with MuSK-MG in Northeast China have a modestly later onset age and a proportion of patients may have a mild form of the disease with delayed disease progression. We confirmed the existence of a rare ocular MuSK-MG phenotype, a high proportion of coexisting with other autoimmune diseases, and a good response to steroids combined with tacrolimus for our MuSK-MG series.

As an adverse immune phenomenon, graft-versus-host disease often occurs after allogeneic hematopoietic stem cell transplantation. The incidence of acute and chronic graft-versus-host disease is about 40–60% and the mortality rate can reach 15%, which is a potentially fatal disease. There are rare GvHD cases involving the central nervous system. We reported a rare case of diffuse white matter changes after haploid bone marrow transplantation, summarizing its clinical manifestations and diagnosis and treatment in conjunction with the literature.

The Goto-Kakizaki (GK) rat is an animal model of non-obese type 2 diabetes (T2D). The GK rat was generated through the introduction of various genetic mutations from continuous inbreeding; these rats develop diabetes spontaneously. The mutated genes in GK rats may play key roles in the regulation of diabetes. The hypothalamus plays a central role in systematic energy homeostasis. Here, the hypothalamic transcriptomes in GK and Wistar rats at 4, 8 and 12 weeks were investigated by RNA-seq, and multiple variants and gene expression profiles were obtained. The number of variants identified from GK rats was significantly greater than that of Wistar rats, indicating that many variants were fixed and heritable in GK rats after selective inbreeding. The differential gene expression analysis indicated that GK rats had a dysfunctional hypothalamic melanocortin system and attenuation of the hypothalamic glucose-sensing pathway. In addition, we generated integrated gene network modules by combining the protein-protein interaction (PPI) network, co-expression network and mutations in GK and Wistar rats. In the modules, GK-specific genes, such as Bad, Map2k2, Adcy3, Adcy2 and Gstm6, may play key roles in hypothalamic regulation in GK rats. Our research provides a comprehensive map of the abnormalities in the GK rat hypothalamus, which reveals the new mechanisms of pathogenesis of T2D.

Rationale: Alien Hand syndrome (AHS) is characterized in most patients by seemingly purposeful, involuntary movements of the extremities. It is not well known among physicians on account of its diverse clinical manifestations. Patient concerns: We present a 57-year-old Chinese man who could not stop or turn himself around as he involuntarily and uncontrollably walked forward, which had happened frequently in the month prior to treatment. He had been a heavy drinker for thirty years before the onset of the disease, with an alcohol intake of 600 to 800 ml/day. Diagnoses: History of alcohol intake and the brain magnetic resonance imaging findings indicated a diagnosis of Marchiafava–Bignami disease. The patient was additionally diagnosed with Alien Hand Syndrome according to his clinical symptoms. Interventions: The patient was treated with high doses of vitamin B for 1 month. Outcomes: The patient's abnormal behaviors never appeared during the treatment, and no instance of recurrence was observed during the 6 months of follow-up. Lessons: The clinical manifestation of AHS is non-specific. Only by considering its diverse manifestation can doctors better understand the disease and achieve early intervention.