The authors describe an infant with Down's syndrome who had a prepyloric web complicated by severe gastric outlet obstruction. The delay in diagnosis was responsible for malnutrition and the early postoperative complications of hypothermia and hypoglycemia. Awareness of the association of gastrointestinal abnormalities with Down's syndrome will enable appropriate evaluation for early diagnosis of this surgically correctable malformation.
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http://dx.doi.org/10.1016/s0022-3468(96)90254-7 | DOI Listing |
Pacing Clin Electrophysiol
December 2024
Electrophysiology and Cardiac Pacing Unit, Pellegrini Hospital, Naples, Italy.
Reel's syndrome (RS) is an unusual cause of pacemaker lead dislodgement. We present the case of a 59-year-old female patient with Down syndrome (DS) implanted with a dual-chamber endovascular pacemaker due to symptomatic sinus node disfunction, reporting several syncopal episodes in last days and showing abnormal electrical parameters at the 2-months follow-up due to RS. The malfunctioning device was removed and an endocardial leadless pacing system was implanted.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.
Methods: A multi-center, retrospective study of individuals with DSRD was performed.
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
View Article and Find Full Text PDFTomography
December 2024
Department of Radiology, Nemours Children's Health, 1600 Rockland Rd., Wilmington, DE 19803, USA.
Evaluating altered mental status and suspected meningeal disorders in children often begins with imaging, typically before a lumbar puncture. The challenge is that meningeal enhancement is a common finding across a range of pathologies, making diagnosis complex. This review proposes a categorization of meningeal diseases based on their predominant imaging characteristics.
View Article and Find Full Text PDFSports (Basel)
December 2024
School of Physical Education and Sport Science at Serres, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
This study aimed to ascertain whether there were any differences in anthropometrics, heart rate, and swimming performance parameters in athletes with intellectual disabilities (ID) before and after a three-month training break. A total of 21 athletes participated in the study, comprising 16 males and 5 females, with a mean age of 28.3 ± 8.
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