暂无摘要。

UNASSIGNED: Due to decreased manual dexterity, a lack of motivation, and difficulty on the part of the caregiver conducting efficient oral hygiene measures at home, patients with Down syndrome (DS) are badly affected. The objective of this study is to compare the efficacy of 0.1% octenidine (OCT) hydrochloride and 0.12% chlorhexidine (CHX) gluconate on plaque control and oxidative stress in institutionalized children with DS.
UNASSIGNED: In 20 children, salivary samples were collected for analysis of the inflammatory marker high-sensitive C-reactive protein (hsCRP) and oxidative stress markers, specifically malondialdehyde (MDA). Plaque index (PlI) and gingival index (GI) were scored. After oral prophylaxis, the participants were randomly assigned to two groups, each consisting of 10 individuals (octenidol and CHX). Salivary oxidative stress marker assays were carried out using a modified version of Yagi\'s (1984) method, and absorbance was measured at 540 nm using an ultraviolet-visible spectrophotometer at 535 nm. hsCRP assays were conducted via latex turbidimetric immunoassay.
UNASSIGNED: On comparison between the two groups, the OCT group showed a statistically significant reduction in GI, PlI, and MDA values (p < 0.05).
UNASSIGNED: It was seen that the use of 0.1% OCT hydrochloride could facilitate the maintenance of good oral hygiene and periodontal status, especially in patients with motor difficulties.
UNASSIGNED: PMS/IEC/2016/02.
UNASSIGNED: Raj AS, George S, S A, et al. Comparing the Effectiveness of Octenidine Hydrochloride and Chlorhexidine Gluconate Mouthrinses in Reducing Plaque and Oxidative Stress in Institutionalized Children with Down Syndrome. Int J Clin Pediatr Dent 2024;17(4):437-441.

Through the late-twentieth century, physicians endorsed the denial of life-saving surgeries to infants because they had Down syndrome. Grim physician assessments of the inevitable burden of Down syndrome found ideological footing in the 1970s crusade to eradicate the condition, a public health goal made possible by new genetic diagnostics and a weakened abortion law. What is most striking about this physician-sanctioned passive euthanasia is that it persisted even in an era of unprecedented expansion of disability rights. Physician endorsement of the euthanasia of infants with Down syndrome offers a powerful corrective to the notion that post-war Canada was marked by waning support for eugenics. Medically sanctioned euthanasia of babies because of their Down syndrome, eugenics of the most extreme type, thrived in late-twentieth century Canada.
Jusqu’à la fin du vingtième siècle, les médecins ont approuvé le refus de pratiquer des interventions chirurgicales vitales sur des nourrissons parce qu\'ils étaient atteints du syndrome de Down. La sombre évaluation par les médecins du fardeau inévitable qu\'entraînait le syndrome de Down a trouvé un fondement idéologique dans la croisade des années 1970 pour éradiquer la maladie, un objectif de santé publique rendu possible par les nouveaux diagnostics génétiques et grâce à une loi sur l\'avortement moins sévère. L\'aspect le plus frappant de cette euthanasie passive sanctionnée par les médecins est qu\'elle a persisté à une époque d\'expansion sans précédent des droits des personnes handicapées. L\'approbation par les médecins de l\'euthanasie des nourrissons atteints du syndrome de Down apporte un puissant correctif à l\'idée que le Canada de l\'après-guerre a été caractérisé par une baisse du soutien à l\'eugénisme. L\'euthanasie médicalement sanctionnée de bébés en raison du syndrome de Down, c\'est-à-dire l\'eugénisme le plus extrême, a au contraire prospéré dans le Canada de la fin du vingtième siècle.

Down syndrome regression disorder (DSRD) is a rare condition involving subacute cognitive decline, loss of previously acquired developmental skills, and prominent neuropsychiatric symptoms, particularly catatonia, in people with Down syndrome. It is thought to involve both autoimmune and neuropsychiatric mechanisms. Research, however, is largely restricted to case studies and retrospective case series and is particularly limited in terms of prospective longitudinal follow-up. We report a case study of a person with DSRD who received both immunomodulatory (intravenous immunoglobulin; IVIG) and psychiatric interventions (electroconvulsive therapy, ECT) over two years with regular assessments using caregiver and clinician ratings. This revealed a small, unsustained response to IVIG and a rapid, sustained response once ECT was introduced. The case highlights the importance of multimodal assessment involving multiple medical specialties, the need to trial different therapies due to the condition\'s complexity, and the significant barriers that patients and their families face in accessing care.

In this study, we aimed to analyze the incremental effects of sensory integration therapy (SIT) plus neurodevelopmental therapy (NT) versus NT alone on the attention and motor skills in children with Down syndrome (DS). We randomly assigned into experimental (i.e. SIT + NT; n = 21) and control (i.e. NT alone; n = 21) groups. While NT was applied to both groups for six weeks, SIT was applied simultaneously to the experimental group for six weeks. Participants\' motor functions (Bruininks-Oseretsky Test of Motor Proficiency-Short form (BOT-2 SF)) and attention skills (Stroop TBAG (Turkish Scientific and Technological Research Association) Form) were evaluated before and after treatment (6 weeks later). Stroop TBAG and BOT-2 SF scores of the groups were similar at the baseline (p > 0.05). Significant improvement from baseline was observed in both BOT-2 SF, and Stroop TBAG results in both groups (p < 0.05). In addition, the improvement in both BOT-2 SF and Stroop TBAG results was found to be greater in the experimental group compared to the control group (p < 0.01). There were clear advantages to adding SIT to NT alone when seeking to improve motor and attention skills in children with DS.

Aims: To determine the effect of a 16-week fitness program (strength vs. aerobic) on different indicators of body composition and components of health-related physical fitness in youths with Down syndrome. Methods and procedures outcomes: Fifty adolescents (19 girls and 31 boys; average age, 18.33 ± 1.42 years) with Down syndrome were recruited and randomized to two groups (strength group vs. aerobic group). Adolescents allocated in the aerobic group carried out a physical activity program three times a week for 16 weeks meanwhile adolescents allocated in the strength group performed a fitness program three times a week for 16 weeks. Results: The exercise group had significant improvements in all health-related physical fitness variables (p < .05) but not on body composition. Conclusions and implications: A sixteen week fitness program consisting of three sessions of 60 min is able to increase levels of health-related physical fitness but not on body composition in youths with Down syndrome. The aerobic program does not seem to show significant differences.

UNASSIGNED: Ventricular echogenic foci are small structures within the hearts of some fetuses. These small areas result from increased echogenicity in the ventricles of fetuses located near the papillary muscles. An association between these foci and chromosomal abnormalities in fetuses has been reported. Considering that chromosomal abnormalities are a major cause of prenatal death, this study aimed to determine the value of fetal echogenic foci as markers for chromosomal abnormalities.
UNASSIGNED: Fetal echocardiography was performed by an experienced cardiologist on 149 pregnant women in the second trimester. Of these, 75 were reported to have positive echogenic foci, and 74 were reported to have no echogenic foci. Subsequently, the three chromosomal anomalies including trisomies 21, 18, and 13 were examined. The information of the individuals, including gestational age and echogenic foci, was recorded.
UNASSIGNED: Based on the findings of the present study, seven infants (4.7%) had trisomy 21, four infants (2.7%) had trisomy 13, and six infants (4.1%) had trisomy 18. The mean gestational age of pregnant women with positive and negative echogenic foci was 21.07±3.23 and 21.03±3.09, respectively. No significant relationship was found between ventricular echogenic foci and trisomy 21, 18, or 13.
UNASSIGNED: The present study suggests no significant relation between the presence of echogenic foci and chromosomal trisomies. This finding indicates that additional tests are required to confirm chromosomal abnormalities when echogenic intracardiac foci are present, especially in high-risk fetuses. Moreover, the absence of echogenic focus does not rule out chromosomal disorders.

Heat shock stress induces genome-wide changes in transcription regulation, activating a coordinated cellular response to enable survival. We noticed many heat shock genes are up-regulated in blood samples from individuals with trisomy 21. We characterized the immediate transcriptional response to heat shock of two lymphoblastoid cell lines derived from brothers with and without trisomy 21. The trisomy 21 cells displayed a more robust heat shock response after just one hour at 42°C than the matched disomic cells.

Down syndrome is a genetic-based disorder that results from the triplication of chromosome 21, leading to an overexpression of many triplicated genes, including the gene encoding Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A). This protein has been observed to regulate numerous cellular processes, including cell proliferation, cell functioning, differentiation, and apoptosis. Consequently, an overexpression of DYRK1A has been reported to result in cognitive impairment, a key phenotype of individuals with Down syndrome. Therefore, downregulating DYRK1A has been explored as a potential therapeutic strategy for Down syndrome, with promising results observed from in vivo mouse models and human clinical trials that administered epigallocatechin gallate. Current DYRK1A inhibitors target the protein function directly, which tends to exhibit low specificity and selectivity, making them unfeasible for clinical or research purposes. On the other hand, antisense oligonucleotides (ASOs) offer a more selective therapeutic strategy to downregulate DYRK1A expression at the gene transcript level. Advances in ASO research have led to the discovery of numerous chemical modifications that increase ASO potency, specificity, and stability. Recently, several ASOs have been approved by the U.S. Food and Drug Administration to address neuromuscular and neurological conditions, laying the foundation for future ASO therapeutics. The limitations of ASOs, including their high production cost and difficulty delivering to target tissues can be overcome by further advances in ASO design. DYRK1A targeted ASOs could be a viable therapeutic approach to improve the quality of life for individuals with Down syndrome and their families.

BACKGROUND: Down syndrome (DS), or Trisomy 21, is defined by the existence of an additional chromosome 21. Various physiological considerations in DS patients might lead to challenges in adequate pain management and sedation after surgery. The aim of this systematic review and meta-analysis is to evaluate the variations of the requirement needed for pain management and sedation in patients with DS who have undergone surgery compared to patients without DS.
METHODS: A systematic review and meta-analysis of studies were conducted, focusing on critically ill patients with DS who were admitted to Intensive care units (ICUs) post-surgery and received opioids and/or benzodiazepines. Searches were conducted in four databases from their inception to November 18, 2023 (Pubmed, Scopus, Cochrane Library, and Web of Science). The primary outcome measured was the dosage of Oral Morphine Equivalent (OME) administered in the days following surgery. Fixed-effect models were used, an approach advisable when only a limited number of studies are available.
RESULTS: Out of the 992 studies initially screened, the systematic review included ten studies, encompassing 730 patients, while the meta-analysis consisted of seven studies, encompassing 533 patients. Of the seven studies included in the analysis, 298 patients were identified to have DS, and 235 patients served as controls. Patients with DS showed a slight increase in OME needs on the first day, but this increase was not statistically significant (mean difference [MD] = 0.09; 95% Confidence Interval [CI]: [-0.02, 0.20]; P = 0.11). There was also no significant difference in the requirement for Midazolam on the first day among DS patients (MD = 0.01; CI [-0.16, 0.19]; P = 0.88). In addition, the duration of mechanical ventilation was not statistically significant in patients with DS compared with the control group (MD = -1.46 hours; 95% CI [-9.74, 6.82]; P = 0.73).
CONCLUSIONS: Patients with Down syndrome did not require more sedation or analgesia in the first three days after surgery than patients without Down syndrome. Additionally, the two groups showed no significant difference in the duration of mechanical ventilation.