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Reversed valved Potts shunt for refractory primary pulmonary arterial hypertension.
Multimed Man Cardiothorac Surg
January 2025
• Pediatric and Congenital Cardiac Surgery, LMU University Hospital, Munich, Germany • Congenital Cardiac Surgery, German Heart Center Munich, Munich, Germany • European Pediatric Heart Center EKHZ Munich, Munich, Germany.
This procedure is carried out via a full sternotomy using standard aortic and bicaval cannulations. For the aortic and pulmonary anastomoses, selective antegrade unilateral cerebral perfusion is used after cooling the body temperature to 26 °Celsius. A 12-mm Hancock conduit is interposed between the pulmonary artery and the proximal descending aorta using standard running suture techniques.
View Article and Find Full Text PDFElectroconvulsive therapy in the treatment of catatonia in a patient with Budd Chiari syndrome: a case report.
Neurocase
January 2025
Department of Radiology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Catatonia may manifest as an independent entity or as a feature of a neuropsychiatric or medical illness. While electroconvulsive therapy (ECT) is the gold standard treatment for catatonia, it is typically administered if the patient's symptoms fail to respond to benzodiazepines. We describe the case of a 22-year-old male with Budd Chiari induced cirrhosis and no prior psychiatric history, who presented with symptoms of psychosis and hepatic encephalopathy, was treated in the ICU for multi-factorial delirium, developed symptoms of catatonia that failed to respond to lorazepam, ultimately requiring ECT with a favorable response.
View Article and Find Full Text PDFTwo Head and Neck Cancers in an Adult With Intellectual Disability and Rett Syndrome: A Case Report.
Spec Care Dentist
January 2025
Department of Head & Neck Surgery, Singapore General Hospital, Singapore, Republic of Singapore.
The cases of head and neck cancer among persons with intellectual disability (PWID) are infrequently reported and therefore poorly understood. PWID often face increased barriers of access to healthcare, which can be further compounded when faced with a cancer diagnosis. This report presents the case of a 34-year-old Chinese female patient with Rett syndrome and intellectual disability, presenting with two primary cancers of the tongue and the trachea.
View Article and Find Full Text PDFOral Manifestations in a Child With Distal Renal Tubular Acidosis, and Refractory Rickets.
Spec Care Dentist
January 2025
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, AIIMS, New Delhi, India.
Renal tubular acidosis (RTA) is a group of disorders in which there is an alteration in acid-base homeostasis because of the impairment of nephrons to excrete hydrogen ions or reabsorb bicarbonate ions, resulting in chronic metabolic acidosis. RTA is an important cause of rickets, particularly 'resistant rickets'. Dental manifestations frequently reported in patients with RTA include enamel hypoplasia and amelogenesis imperfecta, affecting permanent dentition.
View Article and Find Full Text PDFSuccessful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
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