Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsA Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.
Waardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. ⋯ No previous report of this variant was found in the literature and we determined the variant according to the guide published in 2015 as ''likely pathogenic''. We think that the clinical and genetic characterisation of the current family will contribute to knowledge for a better understanding of the genetic background of the Afghan patients with WS. Key Words: Waardenburg syndrome, Congenital auditory-pigmentary syndrome, PAX3 gene.
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J Coll Physicians Surg Pak · Aug 2022
Case ReportsRecurrent Bleeding From a Duodenal Ulcer Halted by Laparoscopic Oversewing Under Endoscopic Guidance.
Peptic ulcers are the most common causes of upper gastrointestinal bleeding. Although most peptic ulcer bleeding can be controlled by medical and endoscopic treatment, a small number of patients with recurrent bleeding eventually require surgical treatment. In recent years, laparoscopy, a minimally invasive surgical method, has gained popularity and acceptance. ⋯ Laparoscopic oversewing of the bleeding ulcer under endoscopic guidance resulted in satisfactory recovery. We suggest that for recurrent bleeding from peptic ulcers, laparoscopic oversewing under endoscopic guidance should be recommended as a possible early option to halt the bleeding. Key Words: Upper gastrointestinal bleeding, Peptic ulcer, Laparoscopy, Treatment.