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Journal of Clinical Medicine Sep 2023Coronary artery disease (CAD) is multifactorial and strongly affected by genetic, epigenetic and environmental factors. Several studies have reported development of... (Review)
Review
Coronary artery disease (CAD) is multifactorial and strongly affected by genetic, epigenetic and environmental factors. Several studies have reported development of concomitant CAD in identical twins. We report a case in which a pair of Caucasian male monozygotic twins presented almost concomitantly with acute coronary syndrome (ACS) and had concordant coronary anatomy and identical site of occlusion. We performed a systematic literature review of PubMed, Web Of Science and Scopus databases from inception until 28 February 2023 of case reports/case series reporting the concomitant development of CAD in monozygotic twins. We found 25 eligible case reports with a total of 31 monozygotic twin pairs (including the case from our center) suffering from CAD and presenting (most of them simultaneously) with ACS (mean age of presentation: 45 ± 12 years, males: 81%). Coronary angiograms demonstrated lesion and anatomy concordance in 77% and 79% of the twin pairs, respectively. Screening for disease-related genetic mutations was performed in six twin pairs leading to the identification of five CAD-related genetic polymorphisms. This is the first systematic literature review of studies reporting identical twin pairs suffering from CAD. In summary, there is high concordance of coronary anatomy and clinical presentation between monozygotic twins. Future monozygotic twin studies-unbiased by age effects-can provide insights into CAD heritability being able to disentangle the traditional dyad of genetic and environmental factors and investigate the within-pair epigenetic drift.
PubMed: 37685809
DOI: 10.3390/jcm12175742 -
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 -
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 -
Prenatal Diagnosis Jun 2024This systematic review explores cardiac adaptation in monochorionic (MC) twins with twin-twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR)... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
This systematic review explores cardiac adaptation in monochorionic (MC) twins with twin-twin transfusion syndrome (TTTS) or selective fetal growth restriction (sFGR) and assesses the risk of congenital heart defects (CHDs).
METHODS
Adhering to PRISMA guidelines, 63 studies were reviewed (49 on cardiac adaptation, 13 on CHD, one on both). A narrative synthesis of cardiac adaptation patterns was performed. Additionally, a meta-analysis compared the livebirth prevalence of CHD in TTTS and sFGR against uncomplicated MC twins.
RESULTS
In TTTS recipients, cardiac function may be impaired for diastolic, systolic, as well as global functions, while in donors, cardiac function is generally preserved. In sFGR, large twins may show hypertrophic cardiomyopathy, and small twins may show impaired systolic function. Co-occurrence of TTTS and sFGR magnifies cardiac impact but is often underreported. Meta-analysis for CHD prevalence revealed a relative risk ratio of 3.5 (95% CI: 2.5-4.9) for TTTS and 2.2 (95%CI: 1.3-3.5) for sFGR compared with uncomplicated MC twins.
CONCLUSIONS
This study highlights the well-documented cardiac adaptation in TTTS, contrasting with limited understanding in sFGR. Elevated CHD risks were observed in both conditions. Enhanced cardiovascular surveillance is warranted in complicated MC twin pregnancies. Future research should explore cardiac adaptation in sFGR and its long-term consequences.
Topics: Humans; Fetofetal Transfusion; Pregnancy; Fetal Growth Retardation; Female; Adaptation, Physiological; Heart Defects, Congenital; Twins, Monozygotic; Heart; Fetal Heart
PubMed: 38643403
DOI: 10.1002/pd.6575