Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.
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http://dx.doi.org/10.14744/SEMB.2020.34651 | DOI Listing |
Sci Rep
January 2025
Department of Movement Science, Institute of Sports Science, University of Klagenfurt, Klagenfurt, Austria.
Over the last decades, resistance training (RT) has experienced a surge in popularity, and compelling evidence underpins its beneficial effects on health, well-being, and performance. However, sports and exercise research findings may translate poorly into practice. This study investigated the knowledge of Austrian gym-goers regarding common myths and truths in RT.
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January 2025
Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, Lyon, France.
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View Article and Find Full Text PDFEur J Radiol Open
June 2025
Department of Radiology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Diagnosing peroneus brevis split tears is a significant challenge, as many cases are missed both clinically and on imaging. Anatomical variations within the superior peroneal tunnel can contribute to peroneus brevis split tears or instability of the peroneal tendons. However, determining which anatomical variations predispose patients to these injuries remains challenging due to conflicting data in the literature.
View Article and Find Full Text PDFRev Cardiovasc Med
January 2025
Department of Cardiology, Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, 610072 Chengdu, Sichuan, China.
Background: There is a shortage of patients with hypertrophic cardiomyopathy (HCM) with concurrent coronary artery disease (CAD), and the influence of CAD on the prognosis of patients with HCM is uncertain. This real-world cohort study was conducted to evaluate the prognosis of patients with patients with CAD.
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Kidney 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.
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