KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in brain regions including the hypothalamus, neocortex and cerebellum. Its neurological function is uncertain. KCNJ11 activating ...

Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive ...

Background: Falls are the most common reason for ambulance callouts resulting in non-conveyance. Even in the absence of injury, only half of those who fall can get themselves up off the floor, often remaining there over ...

Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed ...

Consensus statement by an international multispecialty trainers and trainees expert committee on guidelines for reporting of educational videos in laparoscopic surgery.

Laparoscopic splenectomy is nowadays widely performed for the treatment of benign and malignant diseases of the spleen. However, removing the spleen increases the risk of postoperative infections, therefore patients need ...

A 27-year-old woman presented to the emergency department with a 24-hour history of severe left iliac fossa pain associated with vomiting. She reported a history of ovarian cysts and was provisionally diagnosed with a ...

Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated ...

Active patients may benefit from surgical repair of the achilles tendon with the aim of preserving functional length and optimising push-off power. A mini-open device assisted technique has the potential to reduce wound ...