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Relationship between pregnant women's combined exposure to heavy metals and their offspring's congenital heart defects in Lanzhou, China.
Front Pediatr
January 2025
Gansu University of Chinese Medicine, Lanzhou, Gansu Province, China.
Background: Previous research has demonstrated that exposure to individual heavy metals elevates the incidence rate of congenital heart defects (CHDs). However, there is a paucity of data concerning the relationship between combined exposure to multiple heavy metals and the occurrence of CHDs. This study seeks to investigate the association between combined heavy metal exposure in pregnant women and the incidence of CHDs in their offspring in Lanzhou, China.
View Article and Find Full Text PDFSurgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
View Article and Find Full Text PDFNon-compaction cardiomyopathy and visceral leishmaniasis: uncommon combination with therapeutic challenges in a resource limited-setting.
Sudan J Paediatr
January 2024
Pediatric Department, Faculty of Medicine, National University, Khartoum, Sudan.
Non-compaction cardiomyopathy (NCCM) or spongy myocardium is a rare type of congenital cardiomyopathy. Visceral leishmaniasis is a protozoal disease caused by and transmitted by the bite of female sand-fly species of , which is common in tropical areas like Sudan. We report a 6-year-old female, presented with a fever of unknown origin, weight loss, anemia that necessitated multiple blood transfusions and had hepatosplenomegaly.
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 PDFNeonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
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