Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the gene.

Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the gene, and to describe the treatment and clinical course in these cases.

Burnout and its correlates in Saudi family medicine residents: An observational study from Aseer, Saudi Arabia.

Background: Burnout is a workplace phenomenon and is high among healthcare workers, particularly physicians. It brings in significant negative impact on patient care and physicians. Considerable number of studies have highlighted burnout issues on residents of other specialties; however, scarcity of data exist on burnout among family medicine residents.

A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature.

Inflammatory bowel disease: An evaluation of health information on the internet.

Aim: To evaluate the quality and accuracy of websites written to the public on inflammatory bowel disease (IBD) (Crohn's disease and ulcerative colitis) and assess their readability level.

Methods: Google™, Bing™, and Yahoo™ search engines were searched independently by three researchers in December 2014. Only English-language websites were selected on the basis of predetermined inclusion and exclusion criteria.