-
Minerva Cardiology and Angiology Dec 2023Marfan Syndrome (MFS) is a rare and complex genetic disorder associated with increased aortic growth and aortic disease. The effectiveness of cardiovascular medical...
INTRODUCTION
Marfan Syndrome (MFS) is a rare and complex genetic disorder associated with increased aortic growth and aortic disease. The effectiveness of cardiovascular medical therapies aiming to slow down aortic growth has been tested in several trials, particularly beta-blockers and angiotensin receptor blockers, however showing conflicting results.
EVIDENCE ACQUISITION
We conducted a systematic review on PubMed (Medline), Cochrane library, Google Scholar, and Biomed Central databases between January and February 2022. We selected relevant articles focusing on patients with MFS treated with beta-blockers, angiotensin receptors blockers, or both, and reporting data on the effect of the drugs on 1) slowing down aortic dilatation; 2) the reduction of aortic complication (aortic dissection, mortality, aortic surgery); and with a 3) follow-up length of at least two years. A total of 16 studies were selected.
EVIDENCE SYNTHESIS
Beta-blockers remain the mainstay of therapy as they have proven to slow aortic enlargement. Angiotensin receptor blockers are a useful alternative and with proven benefit as an add-on therapy to limit aortic growth. Neither beta-blockers, nor angiotensin receptor blockers have shown meaningful results on clinical aortic endpoints.
CONCLUSIONS
The current evidence of pharmacological treatment for MFS patients is conflicting due to the lack of large, randomized clinical trials with adequate follow-up studies and homogeneous age grouping. Beta-blockers and angiotensin receptor blockers are the only available treatments to reduce aortic growth. A recently published patient-level meta-analysis confirmed that angiotensin receptor blockers and beta-blockers have a similar effect on reducing the rate of increase of the aortic root Z score, used singularly or as add-on therapy. Considering the current evidence on new features related with MFS (such as mitral annular disjunction - MAD) bearing a potential additional increased arrhythmic risk, it is of paramount importance to establish the role of beta-blockers and angiotensin receptor blockers in clinical endpoints of this population as well.
Topics: Humans; Adrenergic beta-Antagonists; Angiotensin Receptor Antagonists; Aorta; Aortic Diseases; Cardiovascular Diseases; Marfan Syndrome
PubMed: 36939732
DOI: 10.23736/S2724-5683.23.06184-7 -
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 -
The Cochrane Database of Systematic... Feb 2023'Neurodisability' refers to a group of conditions that result primarily from a neurological problem (e.g. cerebral palsy), neuromuscular problem (e.g. a muscular... (Review)
Review
BACKGROUND
'Neurodisability' refers to a group of conditions that result primarily from a neurological problem (e.g. cerebral palsy), neuromuscular problem (e.g. a muscular dystrophy) or developmental problems (e.g. developmental impairment, Down syndrome). Children and young people with these conditions may have similar problems with mobility, feeding and airway clearance. Chest and breathing problems (including pulmonary infections) are commonly experienced by children and young people with neurodisabilities and are often a cause for them requiring hospital care. For those who are unable to completely clear their airway of secretions, or have frequent infections, pulmonary infections may not be able to be completely eradicated and therefore become chronic. It is unclear what treatment is best for children and young people in this position.
OBJECTIVES
To assess the effectiveness and adverse effects of antibiotic treatment for chronic pulmonary infection in children and young people living with a neurodisability, including quality-of-life measures, effects on hospitalisation and healthcare contacts.
SEARCH METHODS
We searched the Cochrane Airways Trials Register, Cochrane Acute Respiratory Infections Group Register of Trials (CARIGRT), Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (Ovid), Embase (Ovid), Cumulative Index to Nursing and Allied Health Literature (CINAHL), OpenGrey (www.opengrey.eu) and three trials registries up to 8 February 2022. Additionally, we identified related systematic reviews through Epistemonikos.org (8 February 2022) and searched reference lists of these.
SELECTION CRITERIA
All randomised controlled trials of antibiotic therapy for chronic pulmonary infection in children and young people up to the age of 18 living with a neurodisability were eligible.
DATA COLLECTION AND ANALYSIS
Two independent review authors screened results of the searches against predetermined inclusion criteria, resolving any discrepancies by discussion.
MAIN RESULTS
We identified a total of 1968 independent records through our searches, of which we assessed six full-text articles for eligibility. We identified one ongoing study as well as one related substudy but did not identify any completed studies eligible for inclusion in this systematic review.
AUTHORS' CONCLUSIONS
The findings of this systematic review highlight a lack of evidence in the antibiotic treatment of chronic pulmonary infection in children and young people up to the age of 18 living with a neurodisability. Further research examining this topic is therefore required.
Topics: Child; Humans; Adolescent; Anti-Bacterial Agents; Respiration Disorders; Hospitalization; Pneumonia; Neurodevelopmental Disorders
PubMed: 36757320
DOI: 10.1002/14651858.CD013813.pub2 -
Adapted Physical Activity Quarterly :... Apr 2023This systematic review examined whether physical activity interventions improve health outcomes in adults with Down syndrome (DS). We searched PubMed, APA PsycInfo,... (Review)
Review
This systematic review examined whether physical activity interventions improve health outcomes in adults with Down syndrome (DS). We searched PubMed, APA PsycInfo, SPORTDiscus, APA PsycARTICLES, and Psychology and Behavioral Sciences Collection using keywords related to DS and physical activity. We included 35 studies published in English since January 1, 1990. Modes of exercise training programs included aerobic exercise, strength training, combined aerobic and strength training, aquatic, sport and gaming, and aerobic and strength exercise interventions combined with health education. The evidence base indicates that aerobic and strength exercise training improve physical fitness variables including maximal oxygen uptake, maximal heart rate, upper and lower body strength, body weight, and body fat percentage. Sport and gaming interventions improve functional mobility, work task performance, and sport skill performance. We concluded that adults with DS can accrue health benefits from properly designed physical activity and exercise interventions.
Topics: Adult; Humans; Down Syndrome; Exercise; Physical Fitness; Resistance Training; Outcome Assessment, Health Care
PubMed: 36724790
DOI: 10.1123/apaq.2022-0102 -
Frontiers in Public Health 2022The coronavirus disease (COVID-19) outbreak has turned the world upside down bringing about a massive impact on society due to enforced measures such as the curtailment...
The coronavirus disease (COVID-19) outbreak has turned the world upside down bringing about a massive impact on society due to enforced measures such as the curtailment of personal travel and limitations on economic activities. The global pandemic resulted in numerous people spending their time at home, working, and learning from home hence exposing them to air contaminants of outdoor and indoor origins. COVID-19 is caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), which spreads by airborne transmission. The viruses found indoors are linked to the building's ventilation system quality. The ventilation flow in an indoor environment controls the movement and advection of any aerosols, pollutants, and Carbon Dioxide (CO) created by indoor sources/occupants; the quantity of CO can be measured by sensors. Indoor CO monitoring is a technique used to track a person's COVID-19 risk, but high or low CO levels do not necessarily mean that the COVID-19 virus is present in the air. CO2 monitors, in short, can help inform an individual whether they are breathing in clean air. In terms of COVID-19 risk mitigation strategies, intelligent indoor monitoring systems use various sensors that are available in the marketplace. This work presents a review of scientific articles that influence intelligent monitoring development and indoor environmental quality management system. The paper underlines that the non-dispersive infrared (NDIR) sensor and ESP8266 microcontroller support the development of low-cost indoor air monitoring at learning facilities.
Topics: Humans; SARS-CoV-2; COVID-19; Carbon Dioxide; Air Pollution, Indoor; Respiratory Aerosols and Droplets
PubMed: 36703846
DOI: 10.3389/fpubh.2022.1022055 -
Movement Disorders Clinical Practice Jan 2023With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we... (Review)
Review
BACKGROUND
With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms.
METHODS
A systematic literature review was conducted in PubMed and Embase on June 15, 2021. Search terms for parkinsonism and genetic neurodevelopmental disorders, using generic terms and the Human Phenotype Ontology, were combined. Study characteristics and descriptive data were extracted from the articles using a modified version of the Cochrane Consumers and Communication Review Group's data extraction template. The protocol was registered in PROSPERO (CRD42020191035).
RESULTS
The literature search yielded 208 reports for data-extraction, describing 69 genetic disorders in 422 patients. The five most reported from most to least frequent were: 22q11.2 deletion syndrome, beta-propeller protein-associated neurodegeneration, Down syndrome, cerebrotendinous xanthomatosis, and Rett syndrome. Notable findings were an almost equal male to female ratio, an early median age of motor onset (26 years old) and rigidity being more common than rest tremor. Results of dopaminergic imaging and response to antiparkinsonian medication often supported the neurodegenerative nature of parkinsonism. Moreover, neuropathology results showed neuronal loss in the majority of cases. Proposed disease mechanisms included aberrant mitochondrial function and disruptions in neurotransmitter metabolism, endosomal trafficking, and the autophagic-lysosomal and ubiquitin-proteasome system.
CONCLUSION
Parkinsonism has been reported in many GNDs. Findings from this study may provide clues for further research and improve management of patients with GNDs and/or parkinsonism.
PubMed: 36699000
DOI: 10.1002/mdc3.13577 -
Clinical Oral Investigations Mar 2023This systematic review investigated the prevalence of tooth wear between patients with and without Down syndrome. (Review)
Review
OBJECTIVES
This systematic review investigated the prevalence of tooth wear between patients with and without Down syndrome.
METHODS
Six databases (Embase, LILACS, Livivo, PubMed, Scopus and Web of Science) and grey literature (Google Scholar, OpenGrey and ProQuest) were searched until March 7, 2022. Observational studies were included to assess the differences in tooth wear prevalence and/or severity in Down syndrome and non-syndromic controls. Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) recommendations were followed. Three reviewers independently screened studies, extracted data, assessed the methodological quality (Joanna Briggs Institute) and graded the certainty of evidence through the Grading of Recommendations, Assessment, Development, Evaluation (GRADE) approach. Results were summarized through meta-analyses using a random-effects model. The protocol was registered at PROSPERO (CRD42021266997).
RESULTS
Of the 1382 records identified, six cross-sectional studies were included. Individuals with Down syndrome had a higher prevalence and were more likely to have tooth wear than individuals without Down syndrome (44% × 15%; OR = 4.43; 95% CI 3.17-6.18; p < 0.00001; I = 8%). Also, the severity of tooth wear was higher in the Down syndrome group (n = 275) compared with the controls (n = 294). The certainty of evidence analysis was very low.
CONCLUSIONS
Based on very low certainty of the evidence, patients with Down syndrome had a higher prevalence and likelihood and severity of tooth wear when compared to those without Down syndrome.
CLINICAL RELEVANCE
Screening early tooth wear lesions should be carefully done in the Down syndrome population since its occurrence is remarkable compared to the general population.
Topics: Humans; Prevalence; Down Syndrome; Cross-Sectional Studies; Tooth Wear; Tooth Attrition
PubMed: 36629964
DOI: 10.1007/s00784-022-04856-5 -
TheScientificWorldJournal 2022Worldwide, surveys have shown that the frequency of chromosomal disorders among births with congenital anomalies varies greatly from country to country. It is well known... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Worldwide, surveys have shown that the frequency of chromosomal disorders among births with congenital anomalies varies greatly from country to country. It is well known that chromosomal disorders are an important cause of premature death or life-long disability; however, the absence of local epidemiological data on their birth prevalence and outcomes impedes policy and service development in many countries and continents. Therefore, the current systematic review and meta-analysis intend to show the pooled proportion of chromosomal disorders among births with congenital anomalies in Africa.
METHODS
From PubMed, Cochrane Library, and Google Scholar, we systematically reviewed and meta-analyzed the studies that examined the incidence, prevalence, and types of chromosomal disorders using PRISMA guidelines. A weighted inverse variance random-effects model was used to estimate the pooled proportion of chromosomal disorders among births with congenital anomalies.
RESULTS
From the total of 3,569 studies identified, 1,442 were from PubMed, 108 were from Cochrane Library, 1,830 were from Google Scholar, and 189 were from other sources. After duplication was removed, a total of 844 articles remained (2725 were removed by duplication). Finally, 144 full-text studies were reviewed and 60 articles with 52,569 births having congenital anomalies met the inclusion criteria and were selected for this meta-analysis. The pooled proportion of chromosomal disorders among births with congenital anomalies was 8.94% (95% CI; 7.02, 10.86; = 98.8%; < 0.001). . In the current systematic review and meta-analysis, the pooled proportion of chromosomal disorders among births with congenital anomalies in Africa was small. Down syndrome (trisomy 21) accounted for more than 80% of chromosomal disorders. The pooled proportion of chromosome disorders was the highest in North African regions and countries compared to other regions of the continent. Healthcare managers should focus on establishing proper cytogenetic diagnostic facilities in collaboration with well-trained genetic counseling services in the continent.
Topics: Pregnancy; Female; Humans; Chromosome Disorders; Parturition; Prevalence; Africa; Incidence
PubMed: 36561944
DOI: 10.1155/2022/6477596