The authors have presented the clinical history of 130 infants with congenital cardiovascular malformations, analysing the causes of deaths in this group of cases. Severe cardio-respiratory failure, related first of all to haemodynamic disturbances, was the most common direct cause of decreases in all age groups. Although the complicating pneumonia undoubtedly enhanced the unfavourable effects of the haemodynamic disturbances, it was rarely considered to be the direct cause of death of children with CHD's.
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Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFBMC Cardiovasc Disord
January 2025
School of Nursing and Midwifery, Griffith University, Southport, QLD 4215, Australia.
Background: Iliac vein compression syndrome (IVCS) impedes venous blood return from the lower extremities due to iliac vein compression, manifesting as leg swelling, varicose veins, and thrombosis. These symptoms significantly degrade quality of life. Although iliac vein stenting provides symptomatic relief, the recovery process is protracted and fraught with challenges such as in-stent restenosis and psychological distress.
View Article and Find Full Text PDFKidney Int
January 2025
Laboratório de Fisiopatologia Renal (LIM 16), Nephrology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil. Electronic address:
In 2017, Kidney Disease: Improving Global Outcomes (KDIGO) published a Clinical Practice Guideline Update for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Since then, new lines of evidence have been published related to evaluating disordered mineral metabolism and bone quality and turnover, identifying and inhibiting vascular calcification, targeting vitamin D levels, and regulating parathyroid hormone. For an in-depth consideration of the new insights, in October 2023, KDIGO held a Controversies Conference on CKD-MBD: Progress and Knowledge Gaps Toward Personalizing Care.
View Article and Find Full Text PDFPort 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.
View Article and Find Full Text PDFPort J Card Thorac Vasc Surg
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.
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