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Seizure Jul 2023The late onset myoclonic epilepsy in Down Syndrome (LOMEDS) is a peculiar epilepsy type characterized by cortical myoclonus and generalized tonic-clonic seizures (GTCS),... (Review)
Review
INTRODUCTION
The late onset myoclonic epilepsy in Down Syndrome (LOMEDS) is a peculiar epilepsy type characterized by cortical myoclonus and generalized tonic-clonic seizures (GTCS), in people suffering from cognitive decline in Down syndrome (DS). In this review, we analyzed available data on the diagnostic and therapeutic management of individuals with LOMEDS.
METHODS
We performed a systematic search of the literature to identify the diagnostic and therapeutic management of patients with LOMEDS. The following databases were used: PubMed, Google Scholar, EMBASE, CrossRef. The protocol was registered on PROSPERO (registration code: CRD42023390748).
RESULTS
Data from 46 patients were included. DS was diagnosed according to the patient's clinical and genetic characteristics. Diagnosis of Alzheimer's dementia (AD) preceded the onset of epilepsy in all cases. Both myoclonic seizures (MS) and generalized tonic-clonic seizures (GTCS) were reported, the latter preceding the onset of MS in 28 cases. EEG was performed in 45 patients, showing diffuse theta/delta slowing with superimposed generalized spike-and-wave or polyspike-and-wave. A diffuse cortical atrophy was detected in 34 patients on neuroimaging. Twenty-seven patients were treated with antiseizure medication (ASM) monotherapy, with reduced seizure frequency in 17 patients. Levetiracetam and valproic acid were the most used ASMs. Up to 41% of patients were unresponsive to first-line treatment and needed adjunctive therapy for seizure control.
CONCLUSIONS
AD-related pathological changes in the brain may play a role in LOMEDS onset, although the mechanism underlying this phenomenon is still unknown. EEG remains the most relevant investigation to be performed. A significant percentage of patients developed a first-line ASM refractory epilepsy. ASMs which modulate the glutamatergic system may represent a good therapeutic option.
Topics: Humans; Down Syndrome; Epilepsy; Epilepsies, Myoclonic; Levetiracetam; Seizures; Alzheimer Disease; Electroencephalography; Anticonvulsants; Epilepsy, Generalized
PubMed: 37267668
DOI: 10.1016/j.seizure.2023.05.017 -
BMC Pediatrics May 2023Malnutrition in childhood has lasting consequences; its effects not only last a lifetime but are also passed down from generation to generation such as short stature,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Malnutrition in childhood has lasting consequences; its effects not only last a lifetime but are also passed down from generation to generation such as short stature, school-aged children are the most vulnerable section of the population and require special attention, including nutrition.
METHOD
We searched Medline through PubMed, Scopus, and Web of Science to identify all observational studies published before Jun 2022. Observational studies with a pediatric population aged 5-18 years that evaluated risk estimate with 95% confidence intervals the relationship between dietary diversity and undernutrition (wasting, stunting, and thinness) were included. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) were followed.
RESULTS
This is a first systematic review and meta-analysis with a total of 20 studies were eligible (n = 18 388). Fourteen data evaluated stunting resulting in a pooled effect size estimated odds ratio of 1.43 (95% CI: 1.08-1.89; p = 0.013). Ten data evaluated Thinness resulting in a pooled effect size estimated odds ratio of 1.10 (95% CI: 0.81-1.49; P = 0.542). Two studies were revealed wasting with a odds ratio of 2.18 (95% CI: 1.41-3.36; p-value < 0.001).
CONCLUSION
According to the conclusions of this meta-analysis of cross-sectional studies, inadequate dietary diversity increases the risk of undernutrition in growth linear but not in thinness in school-aged children. The findings of this analysis suggest that initiatives that support improvements to the diversity of children's diets to reduce the risk of undernutrition may be warranted in LMICs.
Topics: Child; Humans; Thinness; Cross-Sectional Studies; Wasting Syndrome; Diet; Malnutrition; Growth Disorders; Prevalence
PubMed: 37246212
DOI: 10.1186/s12887-023-04032-y -
Brain Sciences May 2023The objective of this study was to evaluate the effectiveness of various results of treadmill training in children and adults with Down syndrome (DS). (Review)
Review
BACKGROUND
The objective of this study was to evaluate the effectiveness of various results of treadmill training in children and adults with Down syndrome (DS).
METHODS
To provide an overview of this effectiveness, we conducted a systematic literature review of studies in which participants with DS from all age groups received treadmill training, alone or combined with physiotherapy. We also looked for comparisons with control groups of patients with DS who did not undergo treadmill training. The search was performed in medical databases: PubMed, PEDro, Science Direct, Scopus, and Web of Science, and included trials published until February 2023. Following PRISMA criteria, the risk of bias assessment was conducted using a tool developed by the Cochrane Collaboration for RCT. The selected studies presented multiple outcomes with differences in methodology; therefore, we were not able to conduct any sort of data synthesis, so we present measures of treatment effect as mean differences and corresponding 95% confidence intervals.
RESULTS
We selected 25 studies for the analysis with a total number of 687 participants, and identified 25 different outcomes which are presented in a narrative manner. In all outcomes we observed positive results favoring the treadmill training.
DISCUSSION
Introducing treadmill exercise into typical physiotherapy generates improvement in mental and physical health of people with DS.
PubMed: 37239280
DOI: 10.3390/brainsci13050808 -
Frontiers in Endocrinology 2023To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved.
DESIGN
Systematic review and mini meta-analysis of the literature.
METHODS
A search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included those who answered at least one of the following two questions: 1) What is the effect of growth hormone treatment in children with Down syndrome? 2) What are the ethical arguments in favor and against growth hormone treatment for children with Down syndrome? Multiple reviewers independently screened each article for eligibility.
RESULTS
In total sixteen reports detailed medical effects of GH treatment in pediatric DS patients and eight studies dealt with ethical aspects of GH treatment. Treatment with GH resulted in significantly higher growth velocity in patients with DS. The ethical complexity is great but does not present insurmountable difficulties to the therapeutic option.
CONCLUSIONS
As GH treatment is safe and effective for short-term height growth, GH therapy should be considered in long-term treatment of DS children.
Topics: Humans; Child; Human Growth Hormone; Down Syndrome; Body Height; Insulin-Like Growth Factor I
PubMed: 37152958
DOI: 10.3389/fendo.2023.1135768 -
PloS One 2023As the life expectancy of adults (aged ≥ 18 years) with Down syndrome increases for a plethora of reasons including recognition of rights, access, and technological...
BACKGROUND
As the life expectancy of adults (aged ≥ 18 years) with Down syndrome increases for a plethora of reasons including recognition of rights, access, and technological and medical advances, there is a need to collate evidence about their quality of life.
OBJECTIVE
Using Schalock and Verdugo's multidimensional quality of life assessment model, this systematic review aimed to identify, synthesise and integrate the quantitative and qualitative evidence on quality of life in adults with Down syndrome via self-and proxy-reporting.
METHODS
Five databases were systematically searched: MEDLINE, CINAHL, PsycINFO, Scopus, and Web of Science to identify relevant articles published between 1980 and 2022 along with grey literature and reference lists from relevant studies. A mixed methods systematic review was performed according to the Joanna Briggs Institute methodology using the convergent integrated approach. The review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.
RESULTS
Thirty-nine studies were included: 20 quantitative, 17 qualitative, and 2 mixed methods studies. The synthesised findings were grouped into the 8 core domains of quality of life: personal development, self-determination, interpersonal relations, social inclusion, rights, emotional, physical and material well-being. Of the 39 studies, 30 (76.92%) reported on emotional well-being and 10 (25.64%) on rights. Only 7 (17.94%) studies reported that adults with Down syndrome have a good quality of life centred around self-determination and interpersonal relations. Most adults with Down syndrome wanted to become more independent, have relationships, participate in the community, and exercise their human rights. Self-reported quality of life from adults with Down syndrome was rated higher than proxy reported quality of life. Discrepancies in quality of life instruments were discovered.
CONCLUSION
This review highlighted the need for a better systematic approach to improving the quality of life in adults with Down syndrome in targeted areas. Future research is required to evaluate self-and proxy-reporting methods and culture-specific quality of life instruments that are more appropriate for adults with Down syndrome. In addition, further studies should consider including digital assistive technologies to obtain self-reported quality of life data in adults with Down syndrome.
INTERNATIONAL PROSPECTIVE REGISTER OF SYSTEMATIC REVIEWS REGISTRATION NUMBER
CRD42019140056.
Topics: Adult; Humans; Quality of Life; Down Syndrome; Exercise
PubMed: 37126503
DOI: 10.1371/journal.pone.0280014 -
Frontiers in Public Health 2023As face masks became mandatory in most countries during the COVID-19 pandemic, adverse effects require substantiated investigation. (Meta-Analysis)
Meta-Analysis
BACKGROUND
As face masks became mandatory in most countries during the COVID-19 pandemic, adverse effects require substantiated investigation.
METHODS
A systematic review of 2,168 studies on adverse medical mask effects yielded 54 publications for synthesis and 37 studies for meta-analysis (on = 8,641, = 2,482, = 6,159, age = 34.8 ± 12.5). The median trial duration was only 18 min (IQR = 50) for our comprehensive evaluation of mask induced physio-metabolic and clinical outcomes.
RESULTS
We found significant effects in both medical surgical and N95 masks, with a greater impact of the second. These effects included decreased SpO (overall Standard Mean Difference, SMD = -0.24, 95% CI = -0.38 to -0.11, < 0.001) and minute ventilation (SMD = -0.72, 95% CI = -0.99 to -0.46, < 0.001), simultaneous increased in blood-CO (SMD = +0.64, 95% CI = 0.31-0.96, < 0.001), heart rate (N95: SMD = +0.22, 95% CI = 0.03-0.41, = 0.02), systolic blood pressure (surgical: SMD = +0.21, 95% CI = 0.03-0.39, = 0.02), skin temperature (overall SMD = +0.80 95% CI = 0.23-1.38, = 0.006) and humidity (SMD +2.24, 95% CI = 1.32-3.17, < 0.001). Effects on exertion (overall SMD = +0.9, surgical = +0.63, N95 = +1.19), discomfort (SMD = +1.16), dyspnoea (SMD = +1.46), heat (SMD = +0.70), and humidity (SMD = +0.9) were significant in = 373 with a robust relationship to mask wearing ( < 0.006 to < 0.001). Pooled symptom prevalence ( = 8,128) was significant for: headache (62%, < 0.001), acne (38%, < 0.001), skin irritation (36%, < 0.001), dyspnoea (33%, < 0.001), heat (26%, < 0.001), itching (26%, < 0.001), voice disorder (23%, < 0.03), and dizziness (5%, = 0.01).
DISCUSSION
Masks interfered with O-uptake and CO-release and compromised respiratory compensation. Though evaluated wearing durations are shorter than daily/prolonged use, outcomes independently validate mask-induced exhaustion-syndrome (MIES) and down-stream physio-metabolic disfunctions. MIES can have long-term clinical consequences, especially for vulnerable groups. So far, several mask related symptoms may have been misinterpreted as long COVID-19 symptoms. In any case, the possible MIES contrasts with the WHO definition of health.
CONCLUSION
Face mask side-effects must be assessed (risk-benefit) against the available evidence of their effectiveness against viral transmissions. In the absence of strong empirical evidence of effectiveness, mask wearing should not be mandated let alone enforced by law.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021256694, identifier: PROSPERO 2021 CRD42021256694.
Topics: Humans; Young Adult; Adult; Middle Aged; COVID-19; Masks; SARS-CoV-2; Pandemics; Carbon Dioxide; Post-Acute COVID-19 Syndrome; Respiratory Protective Devices; Dyspnea
PubMed: 37089476
DOI: 10.3389/fpubh.2023.1125150 -
Pediatric Surgery International Mar 2023Cardiac anomalies occur frequently in patients with congenital duodenal obstruction (DO). However, the exact occurrence and the type of associated anomalies remain... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Cardiac anomalies occur frequently in patients with congenital duodenal obstruction (DO). However, the exact occurrence and the type of associated anomalies remain unknown. Therefore, the aim of this systematic review is to aggregate the available literatures on cardiac anomalies in patients with DO.
METHODS
In July 2022, a search was performed in PubMed and Embase.com. Studies describing cardiac anomalies in patients with congenital DO were considered eligible. Primary outcome was the pooled percentage of cardiac anomalies in patients with DO. Secondary outcomes were the pooled percentages of the types of cardiac anomalies, type of DO, and trisomy 21. A meta-analysis was performed to pool the reported data.
RESULTS
In total, 99 publications met our eligibility data, representing 6725 patients. The pooled percentage of cardiac anomalies was 29% (95% CI 0.26-0.32). The most common cardiac anomalies were persistent foramen ovale 35% (95% CI 0.20-0.54), ventricular septal defect 33% (95% CI 0.24-0.43), and atrial septal defect 33% (95% CI 0.26-0.41). The most prevalent type of obstruction was type 3 (complete atresias), with a pooled percentage of 54% (95% CI 0.48-0.60). The pooled percentage of Trisomy 21 in patients with DO was 28% (95% CI 0.26-0.31).
CONCLUSION
This review shows cardiac anomalies are found in one-third of the patients with DO regardless of the presence of trisomy 21. Therefore, we recommend that patients with DO should receive preoperative cardiac screening.
LEVEL OF EVIDENCE
II.
Topics: Humans; Child; Down Syndrome; Duodenal Obstruction; Heart Defects, Congenital
PubMed: 36967411
DOI: 10.1007/s00383-023-05449-3 -
Frontiers in Pediatrics 2023To analyze and determine the quality of functioning in different components of GHRH-GH-IGF1 axis in children with Down syndrome (DS).
OBJECTIVE
To analyze and determine the quality of functioning in different components of GHRH-GH-IGF1 axis in children with Down syndrome (DS).
DESIGN
Systematic review and mini meta-analysis of the literature.
METHODS
A search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included pediatric patients with DS who had undergone any laboratory evaluation of the GHRH-GH-IGF1 axis. Two reviewers independently screened articles for eligibility. Results of each type of test were weighed together in patients both with and without DS and were pooled using a random effects meta-analysis.
RESULTS
In total, 20 studies assessed the GHRH-GH-IGF1 axis function. A defect in three major components of GHRH-GH-IGF1 axis was found in a significant proportion of pediatric DS patients.
CONCLUSIONS
A significant portion of short-stature pathogenesis in children with DS is associated with impaired GHRH-GH-IGF1 axis function.
PubMed: 36911030
DOI: 10.3389/fped.2023.1132296 -
Medicine Mar 2023N6-methyladenosine (m6A) RNA methylation, as a reversible epigenetic modification of mammalian mRNA, holds a critical role in multiple biological processes. m6A...
N6-methyladenosine (m6A) RNA methylation, as a reversible epigenetic modification of mammalian mRNA, holds a critical role in multiple biological processes. m6A modification in Long non-coding RNAs (lncRNAs) has increasingly attracted more attention in recent years, especially in diabetics, with or without metabolic syndrome. We investigated via m6A-sequencing and RNA-sequencing the differentially expressed m6A modification lncRNAs by high glucose and TNF-α induced endothelial cell dysfunction in human umbilical vein endothelial cells. Additionally, gene ontology and kyoto encyclopedia of genes and genomes analyses were performed to analyze the biological functions and pathways for the target of mRNAs. Lastly, a competing endogenous RNA network was established to further reveal a regulatory relationship between lncRNAs, miRNAs and mRNAs. A total of 754 differentially m6A-methylated lncRNAs were identified, including 168 up-regulated lncRNAs and 266 down-regulated lncRNAs. Then, 119 significantly different lncRNAs were screened out, of which 60 hypermethylated lncRNAs and 59 hypomethylated lncRNAs. Moreover, 122 differentially expressed lncRNAs were filtered, containing 14 up-regulated mRNAs and 18 down-regulated lncRNAs. Gene ontology and kyoto encyclopedia of genes and genomes analyses analyses revealed these targets were mainly associated with metabolic process, HIF-1 signaling pathway, and other biological processes. The competing endogenous RNA network revealed the regulatory relationship between lncRNAs, miRNAs and mRNAs, providing potential targets for the treatment and prevention of diabetic endothelial cell dysfunction. This comprehensive analysis for lncRNAs m6A modification in high glucose and TNF-α-induced human umbilical vein endothelial cells not only demonstrated the understanding of characteristics of endothelial cell dysfunction, but also provided the new targets for the clinical treatment of diabetes. Private information from individuals will not be published. This systematic review also does not involve endangering participant rights. Ethical approval will not be required. The results may be published in a peer-reviewed journal or disseminated at relevant conferences.
Topics: Animals; Humans; RNA, Long Noncoding; Tumor Necrosis Factor-alpha; Gene Regulatory Networks; Human Umbilical Vein Endothelial Cells; MicroRNAs; RNA, Messenger; Glucose; Mammals
PubMed: 36897718
DOI: 10.1097/MD.0000000000033133 -
Adapted Physical Activity Quarterly :... Apr 2023
PubMed: 36787756
DOI: 10.1123/apaq.2023-0022