Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, and hypotonia with gradual clinical improvement. The patients carried one of two de novo heterozygous variants in MYBPC1, with the p.Leu263Arg variant seen in three individuals and the p.Leu259Pro variant in one individual. Both variants are absent from controls, well conserved across vertebrate species, predicted to be damaging, and located in the M‐motif. Protein modeling studies suggested that the p.Leu263Arg variant affects the stability of the M‐motif, whereas the p.Leu259Pro variant alters its structure. In vitro biochemical and kinetic studies demonstrated that the p.Leu263Arg variant results in decreased binding of the M‐motif to myosin, which likely impairs the formation of actomyosin cross‐bridges during muscle contraction. Collectively, our data substantiate that damaging variants in MYBPC1 are associated with a new form of an early‐onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis.     

Stroke recurrence and mortality in northeastern Greece: the Evros Stroke Registry

Journal of Neurology - Up to date there is no population-based study from Greece providing long-term data on incidence of both all-cause mortality and stroke recurrence for patients with first ever...     

Successful management of adhesion related small bowel ischemia without intestinal resection: A case report and review of literature

BACKGROUND Intraabdominal adhesions develop spontaneously or after an inflammatory process or surgical procedure in the abdomen. They are the most common cause of small bowel obstruction(SBO). SBO occasionally leads to intestinal ischemia(In Is) which can be a life-threatening condition that requires management as soon as possible. We herein report a case of SBO with In Is presented in our institution and treated without intestinal resection.CASE SUMMARY A 34-year-old man presented at the emergency department after a 12-h-onset diffuse abdominal pain, bloating and nausea. He had a history of traumatic right hepatectomy 11 years ago as well as adhesiolysis and resection of a long part of small bowel 2 years ago. An abdominal computed tomography(CT) showed dilated loops that led to the diagnosis of SBO. Due to deteriorating lactic acidosis,the patient was operated. Torsion of the small bowel around an adhesion led to2.30 m of ischemic ileum. After the application of N/S 40 °C for 20 min, the intestine showed signs of improvement and it was decided to avoid resection and instead temporary close the abdomen with vacuum-pack technique. At the second-look laparotomy 48 h later, the intestine appeared normal. The patient was discharged on the 8 th post-op day in excellent condition.CONCLUSION In case of SBO caused by adhesions, extreme caution is needed if In Is is present,as the clinical signs are mild and you should rely for diagnosis in CT findings and lactate levels. Conservative surgical approach could reverse the effects of In Is, if performed quickly, so that intestinal resection is avoided and should be used even when minimum signs of viability are present.