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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Am J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
View Article and Find Full Text PDFSuccessful Endoscopic Retrograde Cholangiopancreatography for Management of Choledocholithiasis in a Patient With Situs Inversus Totalis: A Case Report and Literature Review.
Gastro Hep Adv
September 2024
Gastroenterology Division, Medicine Department, Prince Mohammed Bin Abdulaziz Hospital, Ministry National Guard - Health Affairs, Almadinah, Almunawwarah, KSA.
Situs inversus totalis is a rare congenital disorder defined by the transposition of all viscera to the opposite side of the body. Because of this anatomical alteration, endoscopic retrograde cholangiopancreatography (ERCP) in such a population is significantly challenging. Herein we report a case of a 50-year-old woman presented with epigastric and left upper quadrant pain.
View Article and Find Full Text PDFTransgastric single-incision laparoscopic resection for a recurrent gastric adenoma at the prepyloric antrum: A case report.
Int J Surg Case Rep
January 2025
Department of Surgery, The University of Hong Kong, The University of Hong Kong - Shenzhen Hospital, Shenzhen, China. Electronic address:
Introduction: Endoscopic resection is suitable for most benign gastric or early stage cancerous polyps. Laparoscopic local resection is performed only for gastric polyps that are difficult to treat with endoscopic resection, such as recurrent or large polyps. However, when polyps are located in difficult regions, such as the gastric cardia and prepyloric antrum, wedge resection may damage the sphincter around the cardia or pylorus, resulting in postoperative deformity or stenosis.
View Article and Find Full Text PDFCholecystogastric fistula presenting as pyloric obstruction - a Bouveret's syndrome: A case report.
World J Gastrointest Endosc
January 2025
Department of Gastroenterology, Affiliated Jinhua Hospital of Wenzhou Medical University, Jinhua People's Hospital, Jinhua 321000, Zhejiang Province, China.
Background: Bouveret's syndrome is a rare (1%-4%) form of cholelithiasis characterized by gastric outlet obstruction. It presents mainly in elderly women with nausea, vomiting, and abdominal pain. On physical examination, common findings include dehydration signs such as tachycardia, decreased urine output, abdominal discomfort, and distention.
View Article and Find Full Text PDFGastric outlet obstruction in an 11-year-old girl due to a pyloric diaphragm - A case report and a systematic literature review.
Int J Surg Case Rep
January 2025
Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: Congenital pyloric web or diaphragm are rare causes of Gastric Outlet Obstruction (GOO) after infancy, representing approximately 1 % of gastrointestinal obstructions. While it typically presents in the neonatal period with nonbilious vomiting, delayed diagnosis beyond infancy is exceptionally rare.
Presentation Of The Case: An 11-year-old girl with presented with one-month history of postprandial vomiting.
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