The development of the mammalian embryo can be impaired by physical and chemical exogenous agents, leading to congenital malformations or tumours. These accidents represent at present the main cause of perinatal mortality and postnatal morbidity. The principles of teratogenicity and of transplacental cancers are analysed and the therapeutical implications of the prenatal pathology are examined.
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Port J Card Thorac Vasc Surg
January 2025
Angiology and Vascular Surgery, Unidade Local de Saúde de São João; Surgery and Physiology, Faculdade de Medicina da Universidade do Porto, Portugal.
A 44 year-old previously healthy woman presented a persistent epigastric pain. Computed tomography revealed a saccular aneurysm with a diameter of 25x20 mm in the first jejunal artery and also a stenosis in the celiac trunk associated with median arcuate ligament syndrome, turning the hepatic perfusion dependent of the gastroduodenal artery flow. Through a midline laparotomy, celiac axis was exposed, and median arcuate ligament released for median arcuate ligament syndrome treatment.
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January 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.
Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.
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.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
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