We report a case of a 12-yr-old boy referred to our unit with congenital generalized lipodystrophy and dilated cardiomyopathy related to a lamin gene mutation. He progressively developed end-stage heart failure and was referred for heart transplant evaluation. The patient's lipid profile, glucose level, and renal function were normal, and vascular retinopathy was ruled out. He underwent orthotopic bicaval HT and had an uneventful recovery. He was discharged home two wk after surgery with good graft function. During follow-up, he developed hyperglycemia and dyslipidemia, which were controlled by increasing leptin dose and starting oral antidiabetic drugs. The patient is currently doing well two yr after transplantation.
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http://dx.doi.org/10.1111/petr.12656 | DOI Listing |
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Qiaokou District, Wuhan, Hubei 430030, China.
Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.
Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.
Am J Case Rep
December 2024
Department of Otolaryngology, Military Institute of Aviation Medicine, Warsaw, Poland.
BACKGROUND The thyroglossal duct cyst, which develops from the midline migratory tract between the foramen cecum and the anatomic location of the thyroid, is the most prevalent congenital abnormality of the neck, accounting for about 70% of all cervical neck masses in children and 7% in adults. Only up to 1% of these abnormalities contain malignant thyroid tissue, with 90% of those cases being papillary thyroid carcinoma. Thyroglossal duct cyst is rarely linked to carcinoma.
View Article and Find Full Text PDFJACC Adv
December 2024
Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.
Background: Early clinical outcomes data for adjunctive systemic sirolimus therapy (SST) for moderate to severe pediatric pulmonary vein stenosis (PVS) are promising but limited.
Objectives: The authors aimed to characterize a cohort of patients treated with SST to determine if SST was associated with a reduction in frequency of PVS interventions.
Methods: Medical records of 45 patients with PVS treated with SST for ≥1 month from 2015 to 2022 were retrospectively reviewed.
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