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Full-Text Articles in Medicine and Health Sciences
A Novel Mutation In The Choroideremia Gene In A Turkish Family., Mustafa Iftikhar, Yulia Wolfson, Simrat Sodhi, Bushra Usmani, Hendrik P. N. Scholl, Syed M.A. Shah
A Novel Mutation In The Choroideremia Gene In A Turkish Family., Mustafa Iftikhar, Yulia Wolfson, Simrat Sodhi, Bushra Usmani, Hendrik P. N. Scholl, Syed M.A. Shah
Medical College Documents
Choroideremia is an X-linked recessive genetic disorder caused by mutations in the CHM gene. It is a rare retinal dystrophy that manifests as nyctalopia and vision loss, progressing to blindness in later stages. We report a 21-year Turkish man who presented with nyctalopia for the past 4-5 years. His mother and maternal grandmother had similar, but less pronounced complaints. Fundus examination revealed pigmentary changes and retinal atrophy in both eyes. Optical coherence tomography showed outer retinal loss, with central island of preserved autofluorescence surrounded by absent autofluorescence on fundus autofluorescence examination. Goldmann visual fields were constricted. Microperimetry detected retinal sensitivity …
Challenges Of Training And Delivery Of Pediatric Surgical Services In Developing Economies: A Perspective From Pakistan, Amir Humza Sohail, Muhammad Hassaan Arif Maan, Mohammed Sachal, Muhammad Soban
Challenges Of Training And Delivery Of Pediatric Surgical Services In Developing Economies: A Perspective From Pakistan, Amir Humza Sohail, Muhammad Hassaan Arif Maan, Mohammed Sachal, Muhammad Soban
Medical College Documents
Background: As the pediatric population requiring health services rises globally, developing countries are struggling to cater to the growing burden of non-communicable diseases - particularly those requiring specialized surgical care.
Main body: Despite the literature supporting specialized pediatric surgical care, the developing world is far from meeting the American Pediatric Surgical Association (APSA) Manpower taskforce recommendation of at least 1 qualified pediatric surgeon per 100,000 patients (0-15 years-old). In Pakistan, there is an unmet surgical need in the pediatric population due to a multitude of short shortcomings, notably in quality and quantity of the training programs on offer, and urgent …
Xanthogranulomatous Pyelonephritis: Synchronous Upper And Lower Gastrointestinal Bleed, Muhammad Usman Mirza, John Van Taunay, Muhammad Waleed, Shiva Shankar Vangimalla, Sharana Hegde, Muhamad Alhaj Moustafa
Xanthogranulomatous Pyelonephritis: Synchronous Upper And Lower Gastrointestinal Bleed, Muhammad Usman Mirza, John Van Taunay, Muhammad Waleed, Shiva Shankar Vangimalla, Sharana Hegde, Muhamad Alhaj Moustafa
Medical College Documents
Xanthogranulomatous pyelonephritis (XGP) is a rare chronic granulomatous destructive process of the renal parenchyma. It is caused by a chronic inflammatory process due to recurrent urinary tract infections and/or obstructing renal calculi. Rarely, it presents with advanced complications including abscesses and fistula formations. In this article, we report a unique presentation of XGP with simultaneous upper and lower gastrointestinal bleeding in the setting of XGP with reno-gastric and reno-colic fistulas.