Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether ...

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 ...

Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected ...

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

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 ...

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 ...

Purpose: The aim of the study is to show, on an MRI scan, that the posterior border of the anterior horn of the lateral meniscus (AHLM) could guide tibial tunnel position in the sagittal plane and provide anatomical graft ...

Although increasing used in adult and paediatric populations, the use of video laryngoscopy in a neonatal setting has not been extensively researched. This article describes a study showing that intubation of a manikin ...