Objective To investigate the clinical manifestation and electrophysiological, muscle imaging and pathological, molecular features of oculopharyngodistal myopathy (OPDM). Methods The clinical electrophysiological, muscle imaging and pathological, molecular data was collected from a case of OPDM. Data analysis was conducted together with a literature. Results The onset age of the patient was 25 years old. The sequential order of involved muscle was upper eyelid muscle, external ocular, laryngopharyngeal, facial, distal limb muscle and proximal upper limb. Serum creatine kinase was mildly elevated. Electromyography revealed myogenic changes with demyelinating peripheral neuropathy. Myopathological findings showed myopathic changes with rimmed vacuoles . Muscle image showed that fatty replacement of was more severe in lower legs than in thigh. Posterior muscle was severely involved in lower legs. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by targeted next-generation sequencing. Conclusion The case is a sporadic case. OPDM is a disease with a unique phenotype which not only affects muscle but also involves multiple system (demyelinating peripheral neuropathy、heart disease and so on).

Objective:To summarize the clinical and genetic characteristics in patients with transthyretin familial amyloid polyneuropathy (TTR-FAP).Methods:Fourteen unrelated TTR-FAP patients diagnosed at Xuanwu Hospital, Capital Medical University from September 2014 to February 2022 were retrospectively reviewed. The clinical manifestation, electrophysiology, cardiac function, biopsy and gene mutation were analyzed.Results:In the 14 patients (13 males, 1 female) diagnosed as TTR-FAP, the mean age at onset was 53.9 years (range: 33.0-71.0 years), with a mean course from symptom-onset to diagnosis of 4.1 years. The late-onset type occurred in 9 cases. Seven patients had a family history of TTR-FAP. Distal paresthesia of lower limbs was the commonest initial symptom (8 cases), with sensorimotor neuropathy and autonomic dysfunction seen initially in 4 and 2 cases, respectively. Cardiac involvement occurred in 6/8 of the patients. Nerve conduction studies indicated extremely axonal impairment with demyelinating features. Sural nerve biopsies showed moderate to severe axonal loss of myelinated fibers and the positive rate of Congo red staining was 8/14. Of 8 different TTR mutations detected, V50M was the most common (appearing in 5 cases). No obvious neuropathy progression was seen in the 5 patients who received tafamidis and 2 patients died of dyscrasia. Conclusions:TTR-FAP is more common in males, with sensorimotor axonal polyneuropathy, autonomic dysfunction and cardiac subclinical damage as the predominant symptoms. V50M is the commonest mutation. Tafamidis can delay the progression of disability.

Objective To explore whether the IL-6/STAT3 signaling pathway regulate the expression of high mobility group proteins1 (HMGB1) in intestinal mucosa of rats with sepsis through the cecum ligation puncture (CLP). Methods One hundred and twenty male SD rats were randomly(random number) divided into three groups: sham operation group (group S, n=40), CLP group(group C, n=40) and anti-IL-6 monoclonal antibody group (group T, n=40). Rats in group S only received the simple laparotomy;Rats in group C and group T were established as a rat model of sepsis using CLP; rats in group T received the intraperitoneal injection of anti-IL-6 monoclonal antibody at 1 h after CLP, while the same volume of sodium lactate ringer's solution was injected to rats in group S and group C. Ten rats in each group were sacrificed at 3, 12, 24 and 48 h, respectively, and intestinal mucosa specimens were collected for pathological examinations by HE staining. The protein expression of HMGB1 and IL-6 were detected by immunohistochemistry, STAT3-protein by Western blot.and the levels of diamine oxidase (DAO) and D lactic acid in plasma by spectrophotometric. Results Rats in group C and group T showed obvious intestinal damage to different degrees, significantly higher intestinal mucosa pathological scores and plasma levels of DAO and D-lactic acid compared with rats in group S (P<0.05). The protein expression of IL-6, HMGBl and p-STAT3 of intestinal mucosa in group C and group T also significantly increased compared with that in group S (P<0.05). The intestinal mucosa pathological score, plasma levels of DAO and D-lactic acid and protein expression of IL-6, HMGBl and STAT3 were decreased in group T compared with those in group C (P<0.05). The intestinal mucosa pathological scores were positively correlated with the protein expression of IL-6 and HMGB1 at 12, 24, and 48 h, respectively. Conclusions IL-6 and HMGBl were involved in the intestinal injury of septic rats. IL-6/STAT3 signaling pathway could up-regulate the expression of HMGB1 in intestinal mucosa of septic rats.