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Journal of Neurosurgery. Spine Apr 2024Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is... (Review)
Review
OBJECTIVE
Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic-however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members.
METHODS
This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included.
RESULTS
Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%).
CONCLUSIONS
Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.
PubMed: 38608294
DOI: 10.3171/2024.1.SPINE231277 -
Translational Psychiatry Jun 2023The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the... (Meta-Analysis)
Meta-Analysis
The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the relevance of all the studies published since 2001, the current study aimed to update the state-of-art knowledge on the field. All published data concerning the genetic epidemiology of OCD from the CENTRAL, MEDLINE, EMBASE, BVS, and OpenGrey databases were searched by two independent researchers until September 30, 2021. To be included, the articles had to fulfill the following criteria: OCD diagnosis provided by standardized and validated instruments; or medical records; inclusion of a control group for comparison and case-control, cohort or twin study designs. The analysis units were the first-degree relatives (FDRs) of OCD or control probands and the co-twins in twin pairs. The outcomes of interest were the familial recurrence rates of OCD and the correlations of OCS in monozygotic compared with dizygotic twins. Nineteen family, twenty-nine twin, and six population-based studies were included. The main findings were that OCD is a prevalent and highly familial disorder, especially among the relatives of children and adolescent probands, that OCD has a phenotypic heritability of around 50%; and that the higher OCS correlations between MZ twins were mainly due to additive genetic or to non-shared environmental components.
Topics: Adolescent; Child; Humans; Molecular Epidemiology; Twins, Dizygotic; Databases, Factual; Research Design
PubMed: 37380645
DOI: 10.1038/s41398-023-02433-2 -
Journal of Dentistry Aug 2023This review aimed to assess the agreement of dental caries experience between monozygotic (MZ) and dizygotic (DZ) twins. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This review aimed to assess the agreement of dental caries experience between monozygotic (MZ) and dizygotic (DZ) twins.
DATA RESOURCES
This systematic review was performed by reviewers in the databases Embase, MEDLINE-PubMed, Scopus, Web of Science and manual searches and gray literature Google Scholar® and Opengray. Observational studies that evaluated dental caries in twins were included. The risk of bias was analyzed using the Joanna Briggs checklist. Meta-analyses were performed to assess the pooled Odds Ratio to estimate the agreement values of dental caries experience and DMF index between pairs of twins (p < 0.05). To assess the certainty of evidence, the GRADE scale was used.
STUDY SELECTION
2533 studies were identified, of which 19 were included in the qualitative analysis, six in the quantitative synthesis, with two meta-analyses being carried out. Association between genetics and the development of the disease was observed in most studies. In the risk of bias analysis, 47.4% had moderate risk. Higher agreement of dental caries experience was observed in MZ twins than DZ in both dentitions (OR: 5.94; 95% CI: 2.00-17.57). However, there was no difference between the MZ and DZ twin groups in the analysis comparing DMF index agreement (OR: 2.86; 95%CI: 0.25-32.79). The certainty of evidence was considered low and very low for all studies included in meta-analyses.
CONCLUSION
With very low certainty of the evidence, the genetic factor seems to influence the agreement of the caries experience.
CLINICAL RELEVANCE
Understanding the genetic influence on the disease has the potential to contribute to the development of studies that may use biotechnologies for prevention and treatment as well as guide future research involving gene therapies aiming to prevent the occurrence of dental caries.
Topics: Humans; Dental Caries; Bias; DMF Index; Odds Ratio
PubMed: 37339689
DOI: 10.1016/j.jdent.2023.104586 -
Archives of Oral Biology Aug 2023To determine the association between genetic factors and molar-incisor hypomineralisation (MIH) and/or hypomineralised second primary molars by means of a systematic... (Review)
Review
OBJECTIVE
To determine the association between genetic factors and molar-incisor hypomineralisation (MIH) and/or hypomineralised second primary molars by means of a systematic review.
DESIGN
A search was performed in Medline-PubMed, Scopus, Embase and Web of Science databases; manual search and search in gray literature were also performed. Selection of articles was performed independently by two researchers. A third examiner was involved in cases of disagreement. Data extraction was performed using an Excel® spreadsheet and independent analysis was performed for each outcome.
RESULTS
Sixteen studies were included. There was an association between MIH and genetic variants related to amelogenesis, immune response, xenobiotic detoxification and other genes. Moreover, interactions between amelogenesis and immune response genes, and SNPs in the aquaporin gene and vitamin D receptors were associated with MIH. Greater agreement of MIH was found in pairs of monozygotic twins than dizygotic twins. The heritability of MIH was 20 %. Hypomineralised second primary molars was associated with SNPs in the hypoxia-related HIF-1 gene and methylation in genes related to amelogenesis.
CONCLUSION
With very low or low certainty of evidence, an association was observed between MIH and SNPs in genes associated with amelogenesis, immune response, xenobiotic detox and ion transport. Interactions between genes related to amelogenesis and immune response as well as aquaporin genes were associated to MIH. With very low certainty of evidence, hypomineralised second primary molars was associated to a hypoxia-related gene and to methylation in genes related to amelogenesis. Moreover, higher agreement of MIH in pairs of monozygotic twins than dizygotic twins was observed.
Topics: Humans; Dental Enamel Hypoplasia; Molar Hypomineralization; Xenobiotics; Amelogenesis; Molar; Prevalence
PubMed: 37210809
DOI: 10.1016/j.archoralbio.2023.105716 -
BMC Pregnancy and Childbirth May 2023This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income...
OBJECTIVE
This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income countries, appraise their methodological quality, and discuss the similarities and variability across guidelines.
METHOD
A systematic literature review of electronic databases was performed. Manual searches of guideline repositories and websites of professional organisations were performed to identify additional guidelines. The protocol for this systematic review was registered on PROSPERO (CRD42021248586, 25 June 2021). AGREE II and AGREE-REX tools were applied to assess the quality of eligible guidelines. A narrative and thematic synthesis described and compared the guidelines and their recommendations.
RESULTS
Twenty-four guidelines were included, from which 483 recommendations were identified across 4 international organisations and 12 countries. Guidelines addressed eight themes and recommendations were classified accordingly: chorionicity and dating (103 recommendations), fetal growth (105 recommendations), termination of pregnancy (12 recommendations), fetal death (13 recommendations), fetal anomalies (65 recommendations), antenatal care (65 recommendations), preterm labour (56 recommendations) and birth (54 recommendations). Guidelines showed significant variability in recommendations, with conflicting recommendations regarding non-invasive preterm testing, definitions surrounding selective fetal growth restriction, screening for preterm labour and the timing of birth. Guidelines lacked a focus on standard antenatal management of DCDA twins, management of discordant fetal anomaly and single fetal demise.
CONCLUSIONS
Specific guidance for dichorionic diamniotic twins is overall indistinct and access to guidance regarding the antenatal management of these pregnancies is currently difficult. Management of discordant fetal anomaly or single fetal demise needs greater consideration.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Pregnancy, Twin; Pregnancy Outcome; Fetal Death; Twins, Dizygotic; Obstetric Labor, Premature; Retrospective Studies
PubMed: 37179347
DOI: 10.1186/s12884-023-05652-z -
Otology & Neurotology : Official... Feb 2023Congenital cytomegalovirus infection is the leading nonhereditary cause of pediatric sensorineural hearing loss. This systematic review evaluated infection concordance...
OBJECTIVE
Congenital cytomegalovirus infection is the leading nonhereditary cause of pediatric sensorineural hearing loss. This systematic review evaluated infection concordance and comparative hearing abilities in twins/multiple births to model infection patterns.
DATABASES REVIEWED
PubMed, Embase, Web of Science, and Google Scholar.
METHODS
Studies that reported hearing outcomes of congenital cytomegalovirus infection in at least one multiple birth were eligible. Concordant infections (both twins) and discordant infections (single twin) were included. Multiple reviewers performed data extraction and quality assessment. Analyses involved relative risk of infection concordance by zygosity and chorionicity and odds of hearing loss by infection concordance. Hearing outcomes were compared between siblings.
RESULTS
Of 247 studies screened, 31 were included (74.2% high quality). The review captured 40 eligible multiple births. Among infected patients, 42.9% (95% confidence interval, 31.2-55.2%) demonstrated hearing loss. All uninfected twins had normal hearing. Most infections were concordant, and infected patients experienced 4.11 (1.18-14.36) times greater odds of hearing loss if their twin was also infected ( p = .02). Yet siblings' hearing outcomes diverged in over 40% of concordant cases. If either twin is infected, infection risk in the second twin is 3.25 (1.83-5.79) times greater in monozygotic than dizygotic twins and 2.50 (1.61-3.88) times greater in monochorionic than dichorionic twins (both p < .001). We describe a case from our practice.
CONCLUSION
Congenital cytomegalovirus infection patterns and hearing outcomes can vary widely even within a shared fetal and postnatal environment. Suspected infection in a twin indicates that both should receive testing and continued monitoring for late-onset sequelae.
Topics: Pregnancy; Female; Humans; Child; Pregnancy, Multiple; Twins, Dizygotic; Cytomegalovirus Infections; Hearing
PubMed: 36538753
DOI: 10.1097/MAO.0000000000003776 -
Journal of Perinatology : Official... Feb 2023Through a systematic review and meta-analyses, we aimed to analyze the impact of chorionicity on neurodevelopment outcomes. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Through a systematic review and meta-analyses, we aimed to analyze the impact of chorionicity on neurodevelopment outcomes.
STUDY DESIGN
We conducted a comprehensive search strategy through Medline, Embase, Web of Science, and reference lists of the retrieved studies until August 2022. Studies that examined the association between chorionicity and children's neurodevelopment outcomes were included.
RESULTS
Twelve studies were included. Monochorionic (MC) twins increased the odds of neurodevelopment impairment, cerebral palsy compared to dichorionic (DC) twins. The differences in neurodevelopmental impairment and cerebral palsy between the two groups disappeared after excluding infants with twin-twin transfusion (TTTS). After fetoscopic laser surgery (FLS) for MC twins, there were no differences too.
CONCLUSIONS
Compared to DC twins, MC twins were associated with an increased risk of neurodevelopment impairment. MC twins complicated by TTTS were at high risk of neurologic disability, and FLS was an acceptable treatment modality for them.
Topics: Pregnancy; Infant; Female; Child; Humans; Pregnancy, Twin; Cerebral Palsy; Fetofetal Transfusion; Twins, Dizygotic; Twins, Monozygotic; Pregnancy Outcome
PubMed: 36333420
DOI: 10.1038/s41372-022-01534-y -
Cornea Dec 2022The objective of this study was to undertake a systematic review of the literature reporting on clinical registries in dry eye disease (DED).
PURPOSE
The objective of this study was to undertake a systematic review of the literature reporting on clinical registries in dry eye disease (DED).
METHODS
Electronic searches were conducted using systematic review methodology to provide an overview of clinical registries in ophthalmology and to identify clinical registries reporting on dry eye parameters. Two reviewers independently assessed titles and abstracts, then full-texts for eligibility.
RESULTS
A total of 129 clinical registries in ophthalmology were identified. The most common conditions captured were blindness or low vision, followed by glaucoma and corneal transplantation. Most of the registries originated in Europe (n = 56), followed by North America (n = 28). Of the registries identified, 12 were multinational, 59 were national, and 17 were regional. The second search identified 27 eligible articles, from which 8 clinical registries reporting on dry eye parameters were identified. One registry included patients with a diagnosis of dry eye. The remaining 7 registries included patients from a nationwide administrative ophthalmic database (n = 1), Sjögren syndrome (n = 4), glaucoma (n = 1), or were monozygotic and dizygotic twins (n = 1), who were evaluated for DED. Five of the registries were actively collecting data.
CONCLUSIONS
Most of the registries identified in this review evaluated aqueous deficient dry eye; however, the most common type of dry eye in the general population is evaporative. Few registries also collected recommended dry eye clinical assessment. A well-designed clinical registry for DED that engages international eye care clinicians has the potential to vastly contribute to addressing pivotal gaps in understanding this highly prevalent disease.
Topics: Humans; Dry Eye Syndromes; Registries; Ophthalmology; Databases, Factual; Glaucoma
PubMed: 36197325
DOI: 10.1097/ICO.0000000000003139 -
JAMA Network Open Aug 2022Although infancy is the most rapid period of postnatal growth and development, factors associated with variation in infant traits are not well understood. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Although infancy is the most rapid period of postnatal growth and development, factors associated with variation in infant traits are not well understood.
OBJECTIVE
To synthesize the large twin study literature partitioning phenotypic variance in psychological traits and developmental milestones in infancy into estimates of heritability and shared and nonshared environment.
DATA SOURCES
PubMed, PsycINFO, and references of included publications were searched up to February 11, 2021.
STUDY SELECTION
Peer-reviewed publications using the classical twin design to study psychological traits and developmental milestones from birth to 2 years old were included.
DATA EXTRACTION AND SYNTHESIS
Data were extracted in line with Preferred Reporting Items for Systematic Reviews and Meta-Analyses and categorized using the International Classification of Functioning, Disability and Health: Children and Youth Version. Data were pooled in 3-level random effects models, incorporating within-cohort variance in outcome measurement and between-cohort variance. Data were analyzed from March 2021 through September 2021.
MAIN OUTCOMES AND MEASURES
The primary outcomes were monozygotic and dizygotic twin correlations. These were used to calculate genetic and shared and nonshared environment estimates.
RESULTS
Among 139 publications that were systematically retrieved, data were available on 79 044 twin pairs (31 053 monozygotic and 47 991 dizygotic pairs), 52 independent samples, and 21 countries. Meta-analyses were conducted on psychological traits and developmental milestones from 106 publications organized into 10 categories of functioning, disability, and health. Moderate to high genetic estimates for 8 categories were found, the highest of which was psychomotor functions (pooled h2, 0.59; 95% CI, 0.25-0.79; P < .001). Several categories of traits had substantial shared environment estimates, the highest being mental functions of language (pooled c2, 0.59; 95% CI, 0.24-0.86; P = .001). All examined categories of traits had moderate or high nonshared environment estimates, the highest of which were emotional functions (pooled e2, 0.42; 95% CI, 0.33-0.50; P < .001) and family relationships (pooled e2, 0.42; 95% CI, 0.30-0.55; P < .001).
CONCLUSIONS AND RELEVANCE
These findings may be an important source of information to guide future gene discovery research, public perspectives on nature and nurture, and clinical insights into the degree to which family history and environments may estimate major domains of infant functioning, disability, and health in psychological traits and developmental milestones.
Topics: Adolescent; Child; Cohort Studies; Forecasting; Humans; Infant; Phenotype; Twins, Dizygotic
PubMed: 35994288
DOI: 10.1001/jamanetworkopen.2022.27887 -
BMC Pregnancy and Childbirth Jul 2022Monochorionic dizygotic twins are a rare condition, mostly related to assisted reproductive technology. This type of twinning is burdened by the same risk of pregnancy...
BACKGROUND
Monochorionic dizygotic twins are a rare condition, mostly related to assisted reproductive technology. This type of twinning is burdened by the same risk of pregnancy complications found in monochorionic monozygotic pregnancies.
CASE PRESENTATION
We report a case of spontaneous monochorionic dizygotic twins sharing situs inversus abdominalis and isolated levocardia, with only one twin affected by biliary atresia with splenic malformation syndrome. We also conducted a literature review of the 14 available documented monochorionic dizygotic twin gestations spontaneously conceived.
CONCLUSIONS
It is still unclear how this unusual type of twinning can occur in spontaneous conception. The evidence so far suggest the importance to timely diagnose the chorionicity, in order to adequately manage the typical complications associated with monochorionicity.
Topics: Chorion; Female; Humans; Pregnancy; Pregnancy Complications; Pregnancy, Twin; Reproductive Techniques, Assisted; Twins, Dizygotic; Twins, Monozygotic
PubMed: 35836143
DOI: 10.1186/s12884-022-04866-x