Prevalence and radiological characteristics of the dislocation of the second metatarsophalangeal joint in patients undergoing hallux valgus surgery; a matched control study.

BACKGROUND: Hallux valgus (HV) is occasionally associated with chronic subluxation or dislocation (CS/D) of the second metatarsophalangeal joint (2MTPj). The present study aimed to radiographically investigate the prevalence and characteristics of HV with CS/D of the 2MTPj compared with matched controls. METHODS: Dorsoplantar and lateral weight-bearing radiographs of 79 female patients (79 feet) who had HV with an age of 50 years or more were reviewed. All feet were treated with a proximal supination osteotomy for correction of HV. CS/D of the 2MTPj was evaluated on preoperative dorsoplantar and lateral radiographs. HV and intermetatarsal (IM) angles were measured. Seventy-nine feet were divided into two groups: Group CD (16 feet) had HV with CS/D of the 2MTPj, and Group non-CD had HV without the CS/D of the 2MTPj (63 feet). The severity of HV was divided into two grades according to the HV angle: moderate deformity (Group M, 36 feet, HV angle of less than 40°) and severe deformity (Group S, 43 feet, HV angle of 40° or greater). Group CD and non-CD, and Group M and S were matched by age, gender, and BMI. RESULTS: The prevalence of CS/D of the 2MTPj was 20.3%. Group CD had a significantly higher HV angle (p = 0.0001) and a significantly higher IM angle (p = 0.042) than Group non-CD. The prevalence of CS/D of the 2MTPj in Group S (34.9%) were significantly higher than that in Group M (2.8%) (p < 0.001). CONCLUSIONS: CS/D of the 2MTPj was significantly associated with greater HV and IM angles compared with matched controls. The prevalence of CS/D of the 2MTPj (34.9%) in Group S was significantly higher than that in Group M. Severe HV can be at higher risk of acquiring CS/D of the 2MTPj in middle-aged and older females.

Acute Adrenal Insufficiency Precipitated by the Discontinuation of a Betamethasone and Dextrochlorpheniramine Combination: The Diagnostic Utility of an Echocardiographic Assessment of Systemic Vascular Resistance.

A 72-year-old woman with primary biliary cholangitis was admitted to our hospital with heart failure with a preserved ejection fraction. An accidental right ventricular perforation that occurred during an endomyocardial biopsy precipitated cardiogenic shock. Despite successful surgical treatment, she demonstrated progressive hemodynamic deterioration, which was resistant to the administration of high-dose catecholamines. She was diagnosed with acute adrenal insufficiency, which was attributed to the discontinuation of Celestamine® (betamethasone/dextrochlorpheniramine combination) just after the perforation. Prompt intravenous administration of hydrocortisone (150 mg/day) led to hemodynamic stabilization. The serial noninvasive assessment of systemic vascular resistance using transthoracic echocardiography was instrumental in detecting acute adrenal insufficiency in this case.

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3-q34.11 in a girl with EIEE. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin binding protein 1 (STXBP1). STXBP1 (also known as MUNC18-1) is an evolutionally conserved neuronal Sec1/Munc-18 (SM) protein that is essential in synaptic vesicle release in several species. Circular dichroism melting experiments revealed that a mutant form of the protein was significantly thermolabile compared to wild type. Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE.