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Neuroscience and Biobehavioral Reviews Jul 2022Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification... (Meta-Analysis)
Meta-Analysis Review
Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification of at-risk groups and inform causal pathways of anxiety. No known study has explored estimates of anxiety symptomatology and diagnosis, including specific anxiety profiles, across groups whilst accounting for methodological quality of studies. This systematic review and meta-analysis aimed to fill this gap. Prior to review completion, methodology and analysis plans were registered and documented in a protocol (CRD42019123561). Data from 83 papers, involving a pooled sample of 13,708 across eight syndromes were synthesised using a random effects model. Anxiety prevalence ranged from 9 % (95 % CI: 4-14) in Down syndrome to 73% in Rett syndrome (95 % CI: 70-77). Anxiety prevalence across syndromic intellectual disability was higher than for intellectual disability of mixed aetiology and general population estimates. Substantial variability between syndromes identified groups at higher risk than others. The identification of high-risk groups is crucial for early intervention, allowing us to refine models of risk and identify divergent profiles.
Topics: Anxiety; Anxiety Disorders; Down Syndrome; Humans; Intellectual Disability; Prevalence
PubMed: 35661754
DOI: 10.1016/j.neubiorev.2022.104719 -
Clinical Oral Investigations Apr 2024To identify the characteristics of the oral microbiota and the relationship of the dental caries and periodontal status in patients aged 0 to 18 years with non-syndromic... (Meta-Analysis)
Meta-Analysis
Characterization of the oral microbiota and the relationship of the oral microbiota with the dental and periodontal status in children and adolescents with nonsyndromic cleft lip and palate. Systematic literature review and meta-analysis.
OBJECTIVE
To identify the characteristics of the oral microbiota and the relationship of the dental caries and periodontal status in patients aged 0 to 18 years with non-syndromic cleft lip and palate (CLP).
MATERIALS AND METHODS
A systematic review of the literature was carried out. Five databases were consulted, including publications in English, Spanish and Portuguese. The evaluations of the quality of the observational studies and the experimental studies were carried out with the Newcastle-Ottawa scale and CONSORT guidelines, respectively. The risk of bias of the studies was determined using Rev Manager 5.4, and 5 publications were meta-analyzed.
RESULTS
The cariogenic microbiota of children and adolescents with cleft lip and palate was similar to that of children without clefts, although with higher counts of Streptococcus mutans and Lactobacillus spp. The periodontopathogenic microbiota was related to the presence of Campylobacter spp, Fusobacterium spp, Fusobacterium nucleatum, Prevotella intermedia/nigrescens, Parvimonas micra and Porphyromonas gingivalis, considered microorganisms with high pathogenic capacity. Heterogeneity was shown in relation to the microbiota and the type of fissure, presenting numerous microorganisms associated with the pre- and post-surgical condition (cheilorrhaphy and palatorrhaphy) such as Staphylococcus aureus, Streptococcus beta hemolyticus, Klebsiella pneumoniae and Klebsiella oxytoca, Moraxella catarrhalis, Candida spp, Candida albicans, Candida krusei and Candida tropicalis. The meta-analysis revealed that patients with cleft lip and palate were 2.03 times more likely to have caries than the control group (p<0.005).
CONCLUSION
In the microbiota, there was a great diversity of microorganisms that can vary according to the type of fissure and surgical interventions predisposing patients to a greater probability of dental caries, it is important to take into account the technique used to describe the oral microbiota in order to be able to compare the different studies.
CLINICAL RELEVANCE
Studying the microbiota and the relationship of dental caries and periodontal status in children and adolescents with cleft lip and palate can facilitate the comprehensive care of patients with these conditions.
Topics: Child; Humans; Adolescent; Cleft Lip; Cleft Palate; Dental Caries; Microbiota
PubMed: 38587683
DOI: 10.1007/s00784-024-05624-3 -
Maternal and Child Health Journal Jan 2023This study aimed to summarize the evidence describing the relationship between maternal factors during gestation and risk of congenital heart disease (CHD) in offspring. (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
This study aimed to summarize the evidence describing the relationship between maternal factors during gestation and risk of congenital heart disease (CHD) in offspring.
METHODS
PubMed, EMBASE, and the Cochrane Library were searched for potentially relevant reports from inception to May 2021. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) calculated by the random-effects model were used to evaluate the association between maternal factors and CHD risk.
RESULTS
There was a significant association between CHD risk and obesity in pregnancy (OR 1.29, 95% CI 1.22-1.37; P < 0.001), smoking in pregnancy (OR 1.16, 95% CI 1.07-1.25; P < 0.001), maternal diabetes (OR 2.65, 95% CI 2.20-3.19; P < 0.001), and exposure of pregnant women to organic solvents (OR 1.82, 95% CI 1.23-2.70; P = 0.003). No correlations were revealed between CHD susceptibility and advanced maternal age (OR 1.04, 95% CI 0.96-1.12; P = 0.328), underweight (OR 1.02, 95% CI 0.96-1.08; P = 0.519), alcohol intake in pregnancy (OR 1.08, 95% CI 0.95-1.22; P = 0.251), coffee intake (OR 1.18, 95% CI 0.97-1.44; P = 0.105), and exposure to irradiation (OR 1.80, 95% CI 0.85-3.80; P = 0.125).
DISCUSSION
Maternal factors including maternal obesity, smoking in pregnancy, maternal diabetes and exposure to organic solvents might predispose the offspring to CHD risk.
Topics: Female; Pregnancy; Humans; Risk Factors; Heart Defects, Congenital; Diabetes, Gestational; Obesity; Solvents
PubMed: 36344649
DOI: 10.1007/s10995-022-03538-8 -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
Frontiers in Endocrinology 2022Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to... (Meta-Analysis)
Meta-Analysis
UNLABELLED
Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to genitalia abnormalities, anovulation, unreceptive endometrium and metabolic disturbances. Despite those challenges, many live births have been reported. In this systematic review, we focused on the key to successful assisted reproduction strategies and the potential pregnancy complications. We did a systematic literature search of Pubmed, Medline and Scopus for articles reporting successful pregnancies in CAH other than 21-hydroxylase deficiency, and found 25 studies reporting 39 pregnancies covering deficiency in steroidogenic acute regulatory protein, 17α-hydroxylase/17,20-lyase, 11β-hydroxylase, P450 oxidoreductase, cytochrome b5 and 3β-hydroxysteroid dehydrogenase. We summarized various clinical manifestations and tailored reproduction strategy for each subtype. Furthermore, a meta-analysis was performed to evaluate the pregnancy complications of CAH patients. A total of 19 cross-sectional or cohort studies involving 1311 pregnancies of classic and non-classic CAH patients were included. Surprisingly, as high as 5.5% (95% CI 2.3%-9.7%) of pregnancies were electively aborted, and the risk was significantly higher in those studies with a larger proportion of classic CAH than those with only non-classical patients (8.43% (4.1%-13.81%) VS 3.75%(1.2%-7.49%)), which called for better family planning. Pooled incidence of miscarriage was 18.2% (13.4%-23.4%) with a relative risk (RR) of 1.86 (1.27-2.72) compared to control. Glucocorticoid treatment in non-classical CAH patients significantly lowered the miscarriage rate when compared to the untreated group (RR 0.25 (0.13-0.47)). CAH patients were also more susceptible to gestational diabetes mellitus, with a prevalence of 7.3% (2.4%-14.1%) and a RR 2.57 (1.29-5.12). However, risks of preeclampsia, preterm birth and small for gestational age were not significantly different. 67.8% (50.8%-86.9%) CAH patients underwent Cesarean delivery, 3.86 (1.66-8.97) times the risk of the control group. These results showed that fertility is possible for CAH patients but special care was necessary when planning, seeking and during pregnancy.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=342642, CRD42022342642.
Topics: Abortion, Spontaneous; Adrenal Hyperplasia, Congenital; Cross-Sectional Studies; Cytochromes b5; Female; Glucocorticoids; Humans; Hydroxysteroid Dehydrogenases; Infant, Newborn; Pregnancy; Pregnancy Complications; Premature Birth; Reproduction; Steroid 17-alpha-Hydroxylase
PubMed: 36120452
DOI: 10.3389/fendo.2022.982953 -
British Journal of Anaesthesia Dec 2022Patent foramen ovale (PFO) is associated with perioperative stroke in noncardiac surgery. The magnitude of this association was assessed in a systematic review and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Patent foramen ovale (PFO) is associated with perioperative stroke in noncardiac surgery. The magnitude of this association was assessed in a systematic review and meta-analysis.
METHODS
Electronic databases were searched up to June 2022 for studies assessing the association between patent foramen ovale and perioperative stroke in adult patients undergoing noncardiac surgery. The primary analysis was limited to studies reporting effect estimates adjusted for significant clinical confounders. We calculated the adjusted odds ratio (aOR) and 95% confidence interval (CI).
RESULTS
We included nine retrospective and two prospective observational studies, including 21 257 082 patients. The presence of a patent foramen ovale was independently associated with stroke at 30 days after surgery (aOR=6.68 [95% CI: 3.51-12.73]; P<0.001) and at longest follow-up available (aOR=7.36 [95% CI: 3.56-15.21]; P<0.001). The odds of stroke at 30 days varied according to surgical specialty: neurosurgery (aOR=4.52 [95% CI: 3.17-6.43]), vascular surgery (aOR=7.15 [95% CI: 2.52-20.22]), thoracic surgery (aOR=10.64 [95% CI: 5.97-18.98]), orthopaedic surgery (aOR=11.85 [95% CI: 5.38-26.08]), general surgery (aOR=14.40 [95% CI: 10.88-19.06]), and genitourinary surgery (aOR=17.28 [95% CI: 10.36-28.84]).
CONCLUSIONS
The presence of a patent foramen ovale is associated with a large and consistent increase in odds of stroke across all explored surgical settings. Prospective trials should further explore this association by systematically assessing patent foramen ovale and stroke prevalence and identifying a specific population at risk. This is crucial for the elaboration of prevention plans and may improve perioperative outcomes.
Topics: Humans; Adult; Foramen Ovale, Patent; Prospective Studies; Retrospective Studies; Stroke; Neurosurgical Procedures; Observational Studies as Topic
PubMed: 35987705
DOI: 10.1016/j.bja.2022.06.036 -
JDR Clinical and Translational Research Oct 2021To conduct a systematic review and meta-analysis to assess whether individuals with nonsyndromic orofacial clefts (OCs) display a higher frequency of dental anomalies... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To conduct a systematic review and meta-analysis to assess whether individuals with nonsyndromic orofacial clefts (OCs) display a higher frequency of dental anomalies (DAs) when compared with individuals without OCs.
METHODS
A literature search of indexed databases (PubMed, Cochrane, Web of Science, Embase, Scopus, and LILACS) was conducted without language restriction up to and including February 1, 2020. Cross-referencing was used to further identify articles. Several cleft teams across the United States and Europe were contacted to obtain unpublished data. The eligibility criteria were observational studies with original data that statistically compared individuals with OC without syndromes and those without OC on any type of DA in primary and/or permanent dentition. Random effects meta-analysis through the Mantel-Haenszel estimator was used to evaluate the association between OC and DA based on odds ratios (ORs) with 95% confidence intervals (CIs).
RESULTS
The literature search generated 933 records, and 75 full-text articles were reviewed. Twenty-six studies encompassing 15,213 individuals met the inclusion criteria. The meta-analysis revealed statistically significant associations between OC and agenesis (OR, 14.2; 95% CI, 9.4 to 21.3), supernumerary teeth (OR, 5.7; 95% CI, 3.3 to 9.7), developmental enamel defects (OR, 5.6; 95% CI, 3.5 to 9.0), microdontia (OR, 14.8; 95% CI, 4.0 to 54.6), peg-shaped anterior teeth (OR, 12.2; 95% CI, 3.6 to 41.2), taurodontism (OR, 1.7; 95% CI, 1.0 to 2.7), tooth malposition and/or transposition (OR, 5.6; 95% CI, 2.8 to 11.5), tooth rotation (OR, 3.2; 95% CI, 1.3 to 8.2), and tooth impaction (OR, 3.6; 95% CI, 1.1 to 12.2). The OR estimates of the reviewed studies exhibited significant heterogeneity ( < 0.0001). No association was observed between OC and fusion and/or gemination.
CONCLUSION
Within the limitations of this study, the available evidence suggests that individuals with OCs are more likely to present with a range of DAs than their unaffected peers.
KNOWLEDGE TRANSFER STATEMENT
The findings of the current review suggest that individuals with orofacial clefts (OCs) are more likely to present with a range of dental anomalies than their unaffected peers. Understanding the association between OCs and dental anomalies is essential in guiding clinicians during treatment-planning procedures and is important in raising our awareness of the possible need for future dental treatment for patients with OCs.
Topics: Cleft Lip; Cleft Palate; Dentition, Permanent; Humans; Tooth Abnormalities; Tooth, Supernumerary
PubMed: 33030085
DOI: 10.1177/2380084420964795 -
Journal of the American Heart... Dec 2022Background Information on maternal and fetal outcomes of pregnancy in women with D-transposition of the great arteries is limited. We conducted a systematic literature... (Review)
Review
Background Information on maternal and fetal outcomes of pregnancy in women with D-transposition of the great arteries is limited. We conducted a systematic literature review on pregnancies in women with transposition of the great arteries after atrial and arterial switch operations to better define maternal and fetal risk. Methods and Results A systematic review was performed on studies between 2000 and 2021 that identified 676 pregnancies in 444 women with transposition of the great arteries. A total of 556 pregnancies in women with atrial switch operation were tolerated by most cases with low mortality (0.6%). Most common maternal complications, however, were arrhythmias (9%) and heart failure (8%) associated with serious morbidity in some patients. Worsening functional capacity, right ventricular function, and tricuspid regurgitation occurred in ≈20% of the cases. Rate of fetal and neonatal mortality was 1.4% and 0.8%, respectively, and rate of prematurity was 32%. A total of 120 pregnancies in women with arterial switch operation were associated with no maternal mortality, numerically lower rates of arrhythmias and heart failure (6% and 5%, respectively), significantly lower rate of prematurity (11%; <0.001), and only 1 fetal loss. Conclusions Pregnancy is tolerated by most women with transposition of the great arteries and atrial switch operation with low mortality but important morbidity. Most common maternal complications were arrhythmias, heart failure, worsening of right ventricular function, and tricuspid regurgitation. There was also a high incidence of prematurity and increased rate of fetal loss and neonatal mortality. Outcome of pregnancy in women after arterial switch operations is more favorable, with reduced incidence of maternal complications and fetal outcomes similar to women without underlying cardiac disease.
Topics: Infant, Newborn; Humans; Female; Pregnancy; Transposition of Great Vessels; Arteries; Heart Failure
PubMed: 36444833
DOI: 10.1161/JAHA.122.026862 -
The International Journal of Angiology... Jun 2022Congenital anomalies of the vena cava often go unnoticed, and their incidental finding is frequent in imaging tests performed for another cause in asymptomatic patients.... (Review)
Review
Congenital anomalies of the vena cava often go unnoticed, and their incidental finding is frequent in imaging tests performed for another cause in asymptomatic patients. However, an association with the development of thromboembolic disease has been described, mainly in young patients. We report the case of a young woman with deep vein thrombosis associated with vena cava atresia. We conducted a search of the PubMed/Medline database. The search identified 17 articles, of which 5 were selected for extraction and data analysis. Twelve studies were excluded because they failed to match the main criteria. We identified six new cases of deep vein thrombosis associated with vena cava abnormalities, with a mean age of 42.5 years; 83.3% were male. Regarding clinical manifestations, all patients presented as deep vein thrombosis, one case of recurrence, and another case associated with the kidney and inferior vena cava abnormalities with leg thrombosis syndrome. Only one patient had a target triggering factor (cholecystectomy postoperative). The thrombophilia study was negative in all cases and none of the patients died. Treatment included enoxaparin and vitamin K antagonists. This is the first study to report on a systematic review of vena cava atresia associated with deep vein thrombosis in Spain. It shows that in this region, the disease affects young population-even in the absence of risk factors-and is linked to a low mortality. The most frequent presentation form was deep vein thrombosis. Therefore, congenital abnormalities of the vena cava should be suspected in young patients with thromboembolic disease, due to their implications regarding to the duration of anticoagulant treatment, as well as their possible association with other prothrombotic factors.
PubMed: 35833176
DOI: 10.1055/s-0041-1732434 -
Orphanet Journal of Rare Diseases Jun 2023CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain... (Review)
Review
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying therapy was introduced; however, literature is scarce on the latter. This review analyzes BANDDOS and discusses similarities and differences with CSF1R-ALSP.We systematically retrieved and analyzed the clinical, genetic, radiological, and pathological data on the previously reported and our cases with BANDDOS. We identified 19 patients with BANDDOS (literature search according to the PRISMA 2020 guidelines: n = 16, our material: n = 3). We found 11 CSF1R mutations, including splicing (n = 3), missense (n = 3), nonsense (n = 2), and intronic (n = 2) variants and one inframe deletion. All mutations disrupted the tyrosine kinase domain or resulted in nonsense-mediated mRNA decay. The material is heterogenous, and the presented information refers to the number of patients with sufficient data on specific symptoms, results, or performed procedures. The first symptoms occurred in the perinatal period (n = 5), infancy (n = 2), childhood (n = 5), and adulthood (n = 1). Dysmorphic features were present in 7/17 cases. Neurological symptoms included speech disturbances (n = 13/15), cognitive decline (n = 12/14), spasticity/rigidity (n = 12/15), hyperactive tendon reflex (n = 11/14), pathological reflexes (n = 8/11), seizures (n = 9/16), dysphagia (n = 9/12), developmental delay (n = 7/14), infantile hypotonia (n = 3/11), and optic nerve atrophy (n = 2/7). Skeletal deformities were observed in 13/17 cases and fell within the dysosteosclerosis - Pyle disease spectrum. Brain abnormalities included white matter changes (n = 19/19), calcifications (n = 15/18), agenesis of corpus callosum (n = 12/16), ventriculomegaly (n = 13/19), Dandy-Walker complex (n = 7/19), and cortical abnormalities (n = 4/10). Three patients died in infancy, two in childhood, and one case at unspecified age. A single brain autopsy evidenced multiple brain anomalies, absence of corpus callosum, absence of microglia, severe white matter atrophy with axonal spheroids, gliosis, and numerous dystrophic calcifications.In conclusion, BANDDOS presents in the perinatal period or infancy and has a devastating course with congenital brain abnormalities, developmental delay, neurological deficits, osteopetrosis, and dysmorphic features. There is a significant overlap in the clinical, radiological, and neuropathological aspects between BANDDOS and CSF1R-ALSP. As both disorders are on the same continuum, there is a window of opportunity to apply available therapy in CSF1R-ALSP to BANDDOS.
Topics: Humans; Neuroglia; Leukoencephalopathies; Brain; Mutation; Nervous System Malformations; Atrophy
PubMed: 37349768
DOI: 10.1186/s13023-023-02772-9