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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 Several cleft teams across the United States and Europe were contacted to obtain unpublished data.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 -
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 -
PloS One 2016We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
We conducted this systematic review and meta-analysis to address the open question of a possible association between the socioeconomic level of the neighborhoods in which pregnant women live and the risk of Congenital Heart Defects (CHDs), Neural Tube Defects (NTDs) and OroFacial Clefts (OFCs).
METHODS
We searched MEDLINE from its inception to December 20th, 2015 for case-control, cohort and ecological studies assessing the association between neighborhood socioeconomic level and the risk of CHDs, NTDs and the specific phenotypes Cleft Lip with or without Cleft Palate (CLP) and Cleft Palate (CP). Study-specific risk estimates were pooled according to random-effect and fixed-effect models.
RESULTS
Out of 245 references, a total of seven case-control studies, two cohort studies and two ecological studies were assessed in the systematic review; all studies were enrolled in the meta-analysis with the exception of the two cohort studies. No significant association has been revealed between CHDs or NTDs and neighborhood deprivation index. For CLP phenotype subgroups, we found a significantly higher rate in deprived neighborhoods (Odds Ratios (OR) = 1.22, 95% CI: 1.10, 1.36) whereas this was not significant for CP phenotype subgroups (OR = 1.20, 95%CI: 0.89, 1.61).
CONCLUSION
In spite of the small number of epidemiological studies included in the present literature review, our findings suggest that neighborhood socioeconomic level where mothers live is associated only with an increased risk of CLP phenotype subgroups. This finding has methodological limitations that impede the formulation of firm conclusions, and further investigations should confirm this association.
Topics: Databases, Factual; Female; Heart Defects, Congenital; Humans; Mouth Abnormalities; Neural Tube Defects; Odds Ratio; Pregnancy; Residence Characteristics; Risk Factors; Socioeconomic Factors
PubMed: 27783616
DOI: 10.1371/journal.pone.0159039 -
International Journal of Molecular... Jan 2023PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion... (Review)
Review
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy. It is generally considered to be central nervous system disorders, with generalized weakness, associated hypotonia, cognitive and development deficits in early development, and seizures in late stages. Although it is classified predominantly as a central nervous syndrome disorder, some phenotypic features, such as myopathic facies, respiratory insufficiency of muscle origin, and myopathic features on muscle biopsy and electrodiagnostic evaluation, point to a peripheral (neuromuscular) source of weakness. Patients with PURA-NDD have been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases. The goal of this systematic retrospective review is to highlight the motor symptoms of PURA-NDD, to further describe the neuromuscular phenotype, and to emphasize the role of potential treatment opportunities of the neuromuscular phenotype in the setting of the potential role of PURA protein in the neuromuscular junction and the muscles.
Topics: Humans; Neuromuscular Junction; Myasthenic Syndromes, Congenital; Neurodevelopmental Disorders; Learning Disabilities; Epilepsy; Muscle Hypotonia; Nervous System Malformations; DNA-Binding Proteins; Transcription Factors
PubMed: 36768582
DOI: 10.3390/ijms24032260 -
BMC Pregnancy and Childbirth Oct 2010Preexisting diabetes mellitus is associated with increased risk for maternal and fetal adverse outcomes. Despite improvement in the access and quality of antenatal care... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Preexisting diabetes mellitus is associated with increased risk for maternal and fetal adverse outcomes. Despite improvement in the access and quality of antenatal care recent population based studies demonstrating increased congenital abnormalities and perinatal mortality in diabetic mothers as compared to the background population. This systematic review was carried out to evaluate the effectiveness and safety of preconception care in improving maternal and fetal outcomes for women with preexisting diabetes mellitus.
METHODS
We searched the following databases, MEDLINE, EMBASE, WEB OF SCIENCE, Cochrane Library, including the CENTRAL register of controlled trials and CINHAL up to December 2009, without language restriction, for any preconception care aiming at health promotion, glycemic control and screening and treatment of diabetes complications in women of reproductive age group with type I or type II diabetes. Study design were trials (randomized and non-randomized), cohort and case-control studies. Of the 1612 title scanned 44 full papers were retrieved of those 24 were included in this review. Twelve cohort studies at low and medium risk of bias, with 2502 women, were included in the meta-analysis.
RESULTS
Meta-analysis suggested that preconception care is effective in reducing congenital malformation, RR 0.25 (95% CI 0.15-0.42), NNT17 (95% CI 14-24), preterm delivery, RR 0.70 (95% CI 0.55-0.90), NNT = 8 (95% CI 5-23) and perinatal mortality RR 0.35 (95% CI 0.15-0.82), NNT = 32 (95% CI 19-109). Preconception care lowers HbA1c in the first trimester of pregnancy by an average of 2.43% (95% CI 2.27-2.58). Women who received preconception care booked earlier for antenatal care by an average of 1.32 weeks (95% CI 1.23-1.40).
CONCLUSION
Preconception care is effective in reducing diabetes related congenital malformations, preterm delivery and maternal hyperglycemia in the first trimester of pregnancy.
Topics: Congenital Abnormalities; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Humans; Infant, Newborn; Preconception Care; Pregnancy; Pregnancy Complications; Pregnancy Outcome
PubMed: 20946676
DOI: 10.1186/1471-2393-10-63 -
Human Genetics Dec 2016Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The... (Review)
Review
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia. Altogether, 84 articles including phenotype and genotype description provided 9 genomic loci and 26 gene candidates underlying the co-occurrence of the two congenital defects: MSX1, PAX9, IRF6, TP63, KMT2D, KDM6A, SATB2, TBX22, TGFα, TGFβ3, TGFβR1, TGFβR2, FGF8, FGFR1, KISS1R, WNT3, WNT5A, CDH1, CHD7, AXIN2, TWIST1, BCOR, OFD1, PTCH1, PITX2, and PVRL1. The molecular pathways, cellular functions, tissue-specific expression and disease association were investigated using publicly accessible databases (EntrezGene, UniProt, OMIM). The Gene Ontology terms of the biological processes mediated by the candidate genes were used to cluster them using the GOTermMapper (Lewis-Sigler Institute, Princeton University), speculating on six super-clusters: (a) anatomical development, (b) cell division, growth and motility, (c) cell metabolism and catabolism, (d) cell transport, (e) cell structure organization and (f) organ/system-specific processes. This review aims to increase the knowledge on the mechanisms underlying the co-occurrence of tooth agenesis and orofacial clefts, to pave the way for improving targeted (prenatal) molecular diagnosis and finally to reflect on therapeutic or ultimately preventive strategies for these disabling conditions in the future.
Topics: Anodontia; Brain; Cleft Lip; Cleft Palate; Gene Expression Regulation; Gene Ontology; Genetic Association Studies; Genotype; Humans; Organ Specificity; Phenotype; Protein Biosynthesis
PubMed: 27699475
DOI: 10.1007/s00439-016-1733-z -
European Journal of Vascular and... May 2022To synthesise and present all available evidence regarding the surgical treatment of patients with aberrant subclavian artery (aSA) pathologies during the last 30 years.... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To synthesise and present all available evidence regarding the surgical treatment of patients with aberrant subclavian artery (aSA) pathologies during the last 30 years. The study also aimed to create a checklist of suggested reporting items to help increase reporting homogeneity.
METHODS
A systematic search of medical databases was performed to identify all studies published between 1990 and 2020 reporting on the outcomes of patients undergoing surgery for an aSA pathology. Patients were divided into two groups; Group A included patients undergoing open or hybrid surgery through sternotomy/thoracotomy and Group B included patients undergoing endovascular or hybrid treatment without chest access. The % crude rates (CR) of all variables of interest were calculated. A proportion meta-analysis was performed reporting pooled rates with 95% confidence intervals (CIs).
RESULTS
Three hundred and fourteen studies were identified reporting on the surgical outcomes of 732 patients (60.1% males; 440/732). The quality of evidence was generally low, with 286 studies including fewer than four patients and 28 studies with five or more cases. Aberrant right subclavian artery (aRSA) in a left sided aortic arch was present in 71.4% of the patients and a Kommerell's diverticulum was present in 50.1% of the cases. A total of 68% of the patients were symptomatic on presentation, with the majority complaining of dysphagia (49.6%). Group A included 453 and Group B 279 patients. Studies reporting on five or more patients were included in the main meta-analysis. The pooled early mortality rate was 1.62% (95% CI 0.05% - 4.53%) in Group A and 1.96% (95% CI 0 - 6.34%) in Group B. Pooled rates of symptom relief were 99.52% (95% CI 92.05% - 100.00%) in Group A and 95.79% (95% CI 83.96% - 100.00%) in Group B.
CONCLUSION
The surgical techniques used to treat aSA and aortic pathologies involving an aSA had remarkably low mortality rates and high clinical success, regardless of the technique used.
Topics: Aorta, Thoracic; Cardiovascular Abnormalities; Diverticulum; Female; Humans; Male; Subclavian Artery
PubMed: 35459610
DOI: 10.1016/j.ejvs.2022.02.027 -
Acta Obstetricia Et Gynecologica... 2010While active maternal tobacco smoking has well established adverse perinatal outcomes, the effects of passive maternal smoking, also called environmental tobacco... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
While active maternal tobacco smoking has well established adverse perinatal outcomes, the effects of passive maternal smoking, also called environmental tobacco exposure (ETS), are less well studied and less consistent.
OBJECTIVE
To determine to the effect of ETS on perinatal outcomes.
SEARCH STRATEGY
Medline, EMBASE and reference lists were searched.
SELECTION CRITERIA
Studies comparing ETS-exposed pregnant women with those unexposed which adequately addressed active maternal smoking.
DATA COLLECTION AND ANALYSIS
Two reviewers independently assessed titles, abstracts, full studies, extracted data and assessed quality. Dichotomous data were pooled using odds ratios (OR) and continuous data with weighted mean differences (WMD) using a random effects model.
MAIN RESULTS
Seventy-six articles were included with a total of 48,439 ETS-exposed women and 90,918 unexposed women. ETS-exposed infants weighed less [WMD -60 g, 95% confidence interval (CI) -80 to -39 g], with a trend towards increased low birthweight (LBW, < 2,500 g; RR 1.16; 95% CI 0.99-1.36), although the duration of gestation and preterm delivery were similar (WMD 0.02 weeks, 95% CI -0.09 to 0.12 weeks and RR 1.07; 95% CI 0.93-1.22). ETS-exposed infants had longer infant lengths (1.75 cm; 95% CI 1.37-2.12 cm), increased risks of congenital anomalies (OR 1.17; 95% CI 1.03-1.34) and a trend towards smaller head circumferences (-0.11 cm; 95% CI -0.22 to 0.01 cm).
CONCLUSIONS
ETS-exposed women have increased risks of infants with lower birthweight, congenital anomalies, longer lengths, and trends towards smaller head circumferences and LBW.
Topics: Body Height; Cephalometry; Congenital Abnormalities; Female; Humans; Infant, Low Birth Weight; Infant, Newborn; Maternal Exposure; Pregnancy; Skull; Tobacco Smoke Pollution
PubMed: 20085532
DOI: 10.3109/00016340903505748 -
The Cochrane Database of Systematic... Apr 2014Magnesium is an essential mineral required for regulation of body temperature, nucleic acid and protein synthesis and in maintaining nerve and muscle cell electrical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Magnesium is an essential mineral required for regulation of body temperature, nucleic acid and protein synthesis and in maintaining nerve and muscle cell electrical potentials. Many women, especially those from disadvantaged backgrounds, have low intakes of magnesium. Magnesium supplementation during pregnancy may be able to reduce fetal growth restriction and pre-eclampsia, and increase birthweight.
OBJECTIVES
To assess the effects of magnesium supplementation during pregnancy on maternal, neonatal/infant and paediatric outcomes.
SEARCH METHODS
We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 March 2013).
SELECTION CRITERIA
Randomised and quasi-randomised trials assessing the effects of dietary magnesium supplementation during pregnancy were included. The primary outcomes were perinatal mortality (including stillbirth and neonatal death prior to hospital discharge), small-for-gestational age, maternal mortality and pre-eclampsia.
DATA COLLECTION AND ANALYSIS
Two review authors independently assessed study eligibility, extracted data and assessed the risk of bias of included studies.
MAIN RESULTS
Ten trials involving 9090 women and their babies were included; one trial had a cluster design (with randomisation by study centre). All 10 trials randomly allocated women to either an oral magnesium supplement or a control group; in eight trials a placebo was used, and in two trials no treatment was given to the control group. In the 10 included trials, the compositions of the magnesium supplements, gestational ages at commencement, and doses administered varied, including: magnesium oxide, 1000 mg daily from ≤ four months post-conception (one trial); magnesium citrate, 365 mg daily from ≤ 18 weeks until hospitalisation after 38 weeks (one trial), and 340 mg daily from nine to 27 weeks' gestation (one trial); magnesium gluconate, 2 to 3 g from 28 weeks' gestation until birth (one trial), and 4 g daily from 23 weeks' gestation (one trial); magnesium aspartate, 15 mmol daily (three trials, commencing from either six to 21 weeks' gestation until birth, ≤ 16 weeks' gestation until birth, or < 12 weeks until birth), or 365 mg daily from 13 to 24 weeks until birth (one trial); and magnesium stearate, 128 mg elemental magnesium from 10 to 35 weeks until birth (one trial).In the analysis of all trials, oral magnesium supplementation compared to no magnesium was associated with no significant difference in perinatal mortality (stillbirth and neonatal death prior to discharge) (risk ratio (RR) 1.10; 95% confidence interval (CI) 0.72 to 1.67; five trials, 5903 infants), small-for-gestational age (RR 0.76; 95% CI 0.54 to 1.07; three trials, 1291 infants), or pre-eclampsia (RR 0.87; 95% CI 0.58 to 1.32; three trials, 1042 women). None of the included trials reported on maternal mortality.Considering secondary outcomes, while no increased risk of stillbirth was observed, a possible increased risk of neonatal death prior to hospital discharge was shown for infants born to mothers who had received magnesium (RR 2.21; 95% CI 1.02 to 4.75; four trials, 5373 infants). One trial contributed over 70% of the participants to the analysis for this outcome; the trial authors suggested that the large number of severe congenital anomalies in the supplemented group (unlikely attributable to magnesium) and the deaths of two sets of twins (with birthweights < 750 g) in the supplemented group likely accounted for the increased risk of death observed, and thus this result should be interpreted with caution. Furthermore, when the deaths due to severe congenital abnormalities in this trial were excluded from the meta-analysis, no increased risk of neonatal death was seen for the magnesium supplemented group. Magnesium supplementation was associated with significantly fewer babies with an Apgar score less than seven at five minutes (RR 0.34; 95% CI 0.15 to 0.80; four trials, 1083 infants), with meconium-stained liquor (RR 0.79; 95% CI 0.63 to 0.99; one trial, 4082 infants), late fetal heart decelerations (RR 0.68; 95% CI 0.53 to 0.88; one trial, 4082 infants), and mild hypoxic-ischaemic encephalopathy (RR 0.38; 95% CI 0.15 to 0.98; one trial, 4082 infants). Women receiving magnesium were significantly less likely to require hospitalisation during pregnancy (RR 0.65, 95% CI 0.48 to 0.86; three trials, 1158 women).Of the 10 trials included in the review, only two were judged to be of high quality overall. When an analysis was restricted to these two trials none of the review's primary outcomes (perinatal mortality, small-for-gestational age, pre-eclampsia) were significantly different between the magnesium supplemented and control groups.
AUTHORS' CONCLUSIONS
There is not enough high-quality evidence to show that dietary magnesium supplementation during pregnancy is beneficial.
Topics: Administration, Oral; Congenital Abnormalities; Dietary Supplements; Female; Humans; Infant Mortality; Infant, Newborn; Magnesium; Pre-Eclampsia; Pregnancy; Pregnancy Outcome; Pregnancy, High-Risk; Randomized Controlled Trials as Topic; Stillbirth
PubMed: 24696187
DOI: 10.1002/14651858.CD000937.pub2 -
Revista Espanola de Enfermedades... Aug 2016Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association... (Review)
Review
BACKGROUND
Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association of this anomaly with neoplasia of the ventral pancreas, thus we performed a systematic review of the literature from 2008 to 2015.
METHODS
A systematic review of the MedLine and ISI Web of Science Databases from 2008 until 2015 was carried out, and 30 articles which met the inclusion criteria were identified that included a total of 53 patients: 7 children and 46 adults.
CONCLUSIONS
Although dorsal pancreatic agenesis is a rare malformation, given its association with non-alcoholic pancreatitis and neoplasia of the residual pancreas, physicians should maintain an expectant attitude.
Topics: Adult; Child; Cholangiopancreatography, Endoscopic Retrograde; Congenital Abnormalities; Humans; Pancreas; Pancreatitis
PubMed: 27468966
DOI: 10.17235/reed.2016.4474/2016