Interventions in Mowat Wilson Syndrome: A Scoping Review
Dolik-Michno Monika, Johnels Linn, Starbrink Magnus, Wandin Helena and Svedberg Lena
Article Type: Scoping Review | First Published: 2023/09/16
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant condition caused by a heterozygous mutation or deletion of the ZEB2 gene. The syndrome occurs in both sexes but is potentially more frequently diagnosed in males. The number of new cases is estimated to be 1 in 50,000-70,000 born children. MWS is characterised by a distinctive facial appearance in association with intellectual disability (ID) and a range of other features including epilepsy, and Hirschsprung disease....
Collagenous Sprue, a Rare Intestinal Pathology with Dismal Outcome
Nan Fang Wang and Nam Gu Kang
Article Type: Case Report | First Published: 2023/07/20
Collagenous sprue, a rare and poorly understood disease of the small bowel is characterized by progressive weight loss, chronic diarrhoea and malabsorption. Due to its rarity, it is often misdiagnosed as celiac disease as it presents in similar manner. However, collagenous sprue unlike celiac disease is often refractory to gluten free diet and has poor prognosis. The key distinction between collagenous sprue and celiac disease lies in the biopsy of the small bowel where collagenous sprue shows p...
Morbidity Risk across the Lifespan for Adults with Spinal Muscular Atrophy: A Retrospective Cohort Study
Daniel G Whitney, PhD, Erin E Neil Knierbein, DO and Alecia K Daunter, MD
Article Type: Research Article | First Published: 2023/07/12
Recently approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about the natural history of morbidities across the adult lifespan for SMA. The objective of this study was to identify the risk of various morbidities among adults with vs. without SMA prior to SMA-related treatment....
Buerger’s Disease (Thromboangiitis Obliterans) among Smokers: A Literature Review
Ichlasul Mahdi Fardhani
Article Type: Literature Review | First Published: 2023/04/28
Buerger's disease or thromboangiitis obliterans [TAO] is a progressive inflammatory disease that is non atherosclerotic and segmental. Small and medium arteries in the upper and lower extremities are most commonly affected. Despite the etiology and pathophysiology of TAO being still unclear, smoking plays a vital role in the emergence and development of the disease....