An additional case of interstitial deletion of chromosome 6, the first with breakpoints in q12 and q14, is reported. The female infant was the malformed first child of young, healthy parents. A review of proximal 6q deletions is made.
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Cureus
January 2025
Neurosurgery, University of Kinshasa, Kinshasa, COD.
Pediatric spinal tumors include a variety of developmental lesions and uncommon neoplasms that differ significantly from those seen in adults. These conditions are underreported in the sub-Saharan medical literature. We present the case of a 10-year-old girl brought by her family to the University Teaching Hospital of Kinshasa in the Democratic Republic of Congo with progressive lower limb functional impairment.
View Article and Find Full Text PDFEpilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFJ Ovarian Res
January 2025
LongHua Hospital Shanghai University of Traditional Chinese Medicine, No.725 Wanping South Road, Xuhui District, Shanghai, 200032, China.
Objective: To systematically evaluate the effectiveness of non-pharmacological interventions (NPIs), including electroacupuncture, exercise, diet, and lifestyle changes, in reducing androgen levels in women with polycystic ovary syndrome (PCOS) through a systematic review and network meta-analysis.
Methods: Comprehensive searches were conducted in PubMed, Embase, Cochrane Library, Web of Science, CNKI, and Wanfang up to June 2024. Randomized controlled trials (RCTs) comparing NPIs with other NPIs or placebo treatments in adult women with PCOS were included.
BMC Public Health
January 2025
Non-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: The coexistence of obesity and hypertension (HTN) is a global health concern due to its association with various health abnormalities. This study targeted the association between uncontrolled HTN-defined according to the JNC8 guidelines- and different obesity patterns (general and abdominal) among adult hypertensive individuals.
Methods: Data for the present investigation were obtained from the 2021 STEPwise Approach to NCD Risk Factor Surveillance (STEPS) national survey in Iran.
BMC Anesthesiol
January 2025
Department of Scienze Dell'Emergenza, Anestesiologiche e Della Rianimazione, IRCCS Fondazione Policlinico A. Gemelli, Rome, Italy.
Background: Improvements in diagnostics and clinical care have allowed more women of childbearing age, suffering from neurological diseases, to safely have pregnancy, reducing peripartum complications. However, these patients remain at risk and are a constant challenge for anesthesiologists in the delivery room.
Methods: To assess the type of anesthesiologic management performed for delivery in obstetric patients with preexisting neurological disease and who reported significant neurological symptoms during pregnancy, a retrospective observational study was carried out between 1 October 2008 and 30 September 2021.
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