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1.
Sleep Breath ; 28(5): 2269-2281, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38958854

RESUMEN

OBJECTIVE: To systematically review the literature regarding the concordance of sleep bruxism (SB) between monozygotic (MZ) and dizygotic (DZ) twins. METHODS: The registration for this systematic review was accomplished in the International Prospective Register of Systematic Reviews (PROSPERO, No. CRD42021251751). As of July 2022, four databases were searched, including PubMed, Scopus, Embase, and Web of Science, as well as the grey literature in Google Scholar and OpenGrey. Observational studies evaluating SB in MZ and DZ twins of any age and sex were included. For the evaluation of the risk of bias, the Joanna Briggs checklist was utilized. The certainty of evidence was assessed via the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. Pooled and subgroup meta-analyses were performed to estimate concordance of SB ​​between twins (p < 0.05). RESULTS: In total, 3,155 records were identified. In the qualitative analysis, eleven studies were included; of these, seven were included in the meta-analysis. The majority of the articles exhibited a low risk of bias (63.6%). Greater SB concordance was observed between MZ twins than between DZ twins in the analysis of general concordance (OR = 1.47; 95% CI = 1.07-2.02) and also positive concordance (OR = 1.53; 95% CI = 1.29-1.81). Within the subgroup analyses, the significance of the findings remained only for the reported/self-reported SB regarding general concordance (OR = 1.44; 95% CI = 1.07-1.95) and positive concordance (OR = 1.55; 95% CI = 1.28-1.88). Low certainty of the evidence was observed for the general concordance analysis, while moderate certainty was observed for the positive concordance. CONCLUSION: There was a higher concordance of SB in MZ twins compared to DZ twins, indicating a possible genetic influence on the condition's occurrence.


Asunto(s)
Bruxismo del Sueño , Gemelos Dicigóticos , Gemelos Monocigóticos , Humanos , Enfermedades en Gemelos/genética , Bruxismo del Sueño/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
2.
Twin Res Hum Genet ; 27(2): 85-96, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38699821

RESUMEN

TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country's population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.


Asunto(s)
Interacción Gen-Ambiente , Sistema de Registros , Humanos , México/epidemiología , Masculino , Femenino , Adulto , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/epidemiología , Persona de Mediana Edad , Gemelos Monocigóticos/genética , Gemelos Dicigóticos/genética , Trastornos Mentales/genética , Trastornos Mentales/epidemiología , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/epidemiología
3.
Arch Endocrinol Metab ; 67(4): e000620, 2023 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-37252702

RESUMEN

Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C and c.875+1G>A ) in SCNN1A gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received timely symptomatic treatment and management after obtaining these results, which improved the clinical crisis. Our results suggest that the compound heterozygous splicing variants in SCNN1A were responsible for PHA1b in these Chinese fraternal twins. This finding extends the knowledge of the variant spectrum in PHA1b patients and highlights the application of exome sequencing in critically ill newborns. Finally, we discuss supportive case management, particularly in maintaining blood potassium concentration.


Asunto(s)
Seudohipoaldosteronismo , Humanos , Recién Nacido , Pueblos del Este de Asia , Mutación , Seudohipoaldosteronismo/genética , Gemelos Dicigóticos/genética
4.
Biomedica ; 40(4): 604-608, 2020 12 02.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33275339

RESUMEN

Heteropaternal superfecundation is an extremely rare phenomenon that occurs when a second ova released during the same menstrual cycle is additionally fertilized by the sperm cells of a different man in separate sexual intercourse. In August, 2018, the Grupo de Genética de Poblaciones e Identificación at Universidad Nacional de Colombia received a request to establish the paternity of a pair of male twins with genetic markers. The following analyses were performed: amelogenin gene, autosomal short tandem repeat (STR), and Y-STR analyses by means of human identification commercial kits, paternity index, and the probability of paternity calculation and interpretation. A paternity index of 2.5134E+7 and a probability of paternity of 99.9999% for twin 2 were obtained while 14 out of 17 Y-chromosome markers and 14 out of 21 autosomal short tandem repeats were excluded for twin 1. The results indicated that the twins have different biological fathers. Although heteropaternal superfecundation is rarely observed among humans given its low frequency, in paternity disputes for dizygotic twins it is mandatory to demand the presence of the two twins in the testing to avoid wrong conclusions.


La superfecundación heteropaternal es un fenómeno extremadamente raro que se produce cuando un segundo óvulo, liberado durante el mismo ciclo menstrual, es fertilizado por un espermatozoide de un hombre diferente en relaciones sexuales separadas. En agosto de 2018, el Grupo de Genética de Poblaciones e Identificación de la Universidad Nacional de Colombia recibió una solicitud para establecer la paternidad mediante marcadores genéticos de un par de mellizos varones, en quienes se hizo el análisis del gen de amelogenina, el análisis de repeticiones cortas en tándem (Short Tandem Repeats, STR) autosómicas y del cromosoma Y (Y-STR) mediante kits comerciales de identificación humana y cálculos e interpretación del índice de paternidad y probabilidad de paternidad. Se obtuvo un índice de paternidad de 2,5134E+7 y una probabilidad de paternidad de 99,9999 % para el gemelo 2, en tanto que en el gemelo 1 se excluyeron 14 de los 17 marcadores del cromosoma Y y 14 de los 21 sistemas STR autosómicos evaluados. Los resultados indicaron que los gemelos tienen diferentes padres biológicos. A pesar de que la superfecundación heteropaternal rara vez se observa en humanos debido a su baja frecuencia, en las disputas de paternidad para los gemelos dicigóticos, es obligatorio exigir en la prueba la presencia de los dos gemelos para evitar conclusiones incorrectas.


Asunto(s)
Repeticiones de Microsatélite/genética , Paternidad , Superfetación/genética , Gemelos Dicigóticos/genética , Amelogenina/genética , Cromosomas Humanos Y/genética , Colombia , Padre , Femenino , Marcadores Genéticos , Humanos , Masculino , Embarazo
5.
Twin Res Hum Genet ; 22(6): 609-610, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31840625

RESUMEN

Despite the well-known relevance of twin studies in the medical and social sciences and the growing number of twin registries throughout the world, Latin America has not fully incorporated into the twin research community. We describe the first steps taken toward developing a twin registry in Mexico: its aim, organization, recruiting potential and main short-term objectives.


Asunto(s)
Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Sistema de Registros/estadística & datos numéricos , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , México/epidemiología , Padres , Selección de Paciente , Encuestas y Cuestionarios
6.
Twin Res Hum Genet ; 22(6): 467-474, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31317851

RESUMEN

The University of São Paulo Twin Panel (Painel USP de Gêmeos), based at the Institute of Psychology of the University of São Paulo, started formally in 2017. Our registry is new, but in only two years of formal existence, it comprises a volunteer sample of 4826 registered individuals (98% twins and 2% higher-order multiples), recruited at the University of São Paulo and by social media campaigns. Our main aim is to conduct and promote research with twins on psychological processes and behavior. The University of São Paulo is the largest higher education and research institution in South America, and the Painel USP de Gêmeos has great potential for fostering research on twin-related issues from a psychological perspective in Brazil and South America.


Asunto(s)
Investigación Conductal , Enfermedades en Gemelos/psicología , Sistema de Registros/estadística & datos numéricos , Proyectos de Investigación/normas , Gemelos Dicigóticos/estadística & datos numéricos , Gemelos Monocigóticos/estadística & datos numéricos , Adolescente , Adulto , Brasil/epidemiología , Niño , Preescolar , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Participación del Paciente , Selección de Paciente , Gemelos Dicigóticos/genética , Gemelos Dicigóticos/psicología , Gemelos Monocigóticos/genética , Gemelos Monocigóticos/psicología , Adulto Joven
7.
Twin Res Hum Genet ; 22(6): 611-616, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31931895

RESUMEN

TwinsMX is a national twin registry in Mexico recently created with institutional support from the Universidad Nacional Autónoma de México. It aims to serve as a platform to advance epidemiological and genetic research in the country and to disentangle the genetic and environmental contributions to health and disease in the admixed Mexican population. Here, we describe our recruitment and data collection strategies and discuss both the progress to date and future directions. More information about the registry is available on our website: https://twinsmxofficial.unam.mx/ (content in Spanish).


Asunto(s)
Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Interacción Gen-Ambiente , Sistema de Registros/estadística & datos numéricos , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Selección de Paciente , Adulto Joven
8.
Twin Res Hum Genet ; 19(6): 687-691, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27852353

RESUMEN

The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia. The collaboration includes the Federal University of Minas Gerais (UFMG) in Brazil, the University of Sydney and University of Melbourne in Australia, the Australian Twin Registry, as well as the research foundations CNPq and CAPES in Brazil. The BTR is a member of the International Network of Twin Registries. Recruitment strategies used to register twins have been through participation in a longitudinal study investigating genetic and environmental factors for low back pain occurrence, and from a variety of sources including media campaigns and social networking. Currently, 291 twins are registered in the BTR, with data on demographics, zygosity, anthropometrics, and health history having been collected from 151 twins using a standardized self-reported questionnaire. Future BTR plans include the registration of thousands of Brazilian twins identified from different sources and collaborate nationally and internationally with other research groups interested on twin studies.


Asunto(s)
Enfermedades en Gemelos/epidemiología , Sistema de Registros , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Australia , Brasil , Enfermedades en Gemelos/genética , Femenino , Humanos , Estudios Longitudinales , Masculino , Encuestas y Cuestionarios
9.
Twin Res Hum Genet ; 19(4): 397-401, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27436054

RESUMEN

The interrelatedness between twin research and the arts is explored via a new play about a famous case. In the 1960s, identical twin David Bruce Reimer was accidentally castrated as an infant during circumcision to correct a urinary problem. The decision to raise him as a girl, and the consequences of that decision, are explored in the new theatrical production of Boy. Other examples of the arts mirroring science, and vice versa, are described. Next, brief reviews and summaries of twin research on sexual orientation, 1860s' knowledge of placental arrangements and twinning mechanisms, and genes underlying multiple birth conception and fertility related measures are provided. This article concludes with a look at twins on college campuses and the identification of individuals by their brain waves. A correction and clarification regarding my article on the Brazilian Twin Registry in the last issue of THG (Segal, 2016) is also provided.


Asunto(s)
Arte , Conducta Sexual , Estudios en Gemelos como Asunto , Gemelos Dicigóticos/genética , Ondas Encefálicas , Brasil , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Embarazo , Embarazo Múltiple , Universidades , Adulto Joven
10.
J Pediatr ; 172: 69-74.e2, 2016 05.
Artículo en Inglés | MEDLINE | ID: mdl-26935785

RESUMEN

OBJECTIVE: To determine the genetic contribution to risk for respiratory distress syndrome (RDS) among moderately preterm, late preterm, and term infants (estimated gestational age ≥32 weeks) of African- and European-descent. STUDY DESIGN: We reviewed clinical records for 524 consecutive twin pairs ≥32 weeks gestation. We identified pairs in which at least 1 twin had RDS (n = 225) and compared the concordance of RDS between monozygotic and dizygotic twins. Using mixed-effects logistic regression, we identified covariates that increased disease risk. We performed additive genetic, common environmental, and residual effects modeling to estimate genetic variance and used the ratio of genetic variance to total variance to estimate genetic contribution to RDS disease risk. RESULTS: Monozygotic twins were more concordant for RDS than dizygotic twins (P = .0040). Estimated gestational age, European-descent, male sex, delivery by cesarean, and 5-minute Apgar score each independently increased risk for RDS. After adjusting for these covariates, genetic effects accounted for 58% (P = .0002) of the RDS disease risk variance for all twin pairs. CONCLUSIONS: In addition to environmental factors, genetic factors may contribute to RDS risk among moderately preterm, late preterm, and term infants. Discovery of risk alleles may be important for prediction and management of RDS risk.


Asunto(s)
Recien Nacido Prematuro , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Nacimiento a Término , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Femenino , Predisposición Genética a la Enfermedad , Edad Gestacional , Humanos , Recién Nacido , Modelos Logísticos , Masculino , Embarazo , Estudios Retrospectivos , Factores de Riesgo
11.
Arq. bras. cardiol ; Arq. bras. cardiol;106(1): 13-17, Jan. 2016. tab
Artículo en Portugués | LILACS | ID: lil-771046

RESUMEN

Abstract Background: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. Objectives: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. Methods: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Results: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Conclusions: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.


Resumo Fundamento: A configuração da aorta abdominal relaciona-se com o envelhecimento saudável e uma série de distúrbios. Objetivos: Avaliar efeitos herdáveis e ambientais no diâmetro da aorta abdominal. Métodos: 114 pares de gêmeos adultos (69 monozigóticos e 45 dizigóticos do mesmo sexo), com idade média de 43,6 ± 16,3 anos, foram submetidos a ultrassonografia abdominal com o aparelho Esaote MyLab 70X para visualização da aorta abdominal abaixo da origem das artérias renais e 1-3 cm acima da bifurcação aórtica. Resultados: A herdabilidade ajustada para idade e sexo do diâmetro da aorta abdominal abaixo da origem das artérias renais foi 40% [intervalo de confiança (IC) 95%, 14 – 67%] e acima da bifurcação, 55% (IC 95%, 45 – 70%). Nenhum dos diâmetros aórticos apresentou efeitos ambientais comuns, mas os efeitos ambientais não compartilhados foram responsáveis por 60% e 45% dos traços, respectivamente. Conclusões: Nossa análise mostrou herdabilidade moderada e diferença do diâmetro da aorta abdominal com especificidade de segmento. A parte moderada da variância foi explicada pelo componente ambiental não compartilhado, enfatizando a importância do estilo de vida na prevenção primária. Estudos adicionais nesse campo poderão guiar futuros esforços de mapeamento genético e investigar fatores específicos de estilo de vida para prevenir dilatação da aorta abdominal e suas complicações.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Aorta Abdominal/anatomía & histología , Interacción Gen-Ambiente , Aorta Abdominal , Enfermedades de la Aorta/genética , Aterosclerosis/genética , Predisposición Genética a la Enfermedad , Estilo de Vida , Tamaño de los Órganos/genética , Valores de Referencia , Factores de Riesgo , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
12.
Arq Bras Cardiol ; 106(1): 13-7, 2016 Jan.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-26559855

RESUMEN

BACKGROUND: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. OBJECTIVES: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. METHODS: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. RESULTS: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. CONCLUSIONS: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.


Asunto(s)
Aorta Abdominal/anatomía & histología , Interacción Gen-Ambiente , Adulto , Aorta Abdominal/diagnóstico por imagen , Enfermedades de la Aorta/genética , Aterosclerosis/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Estilo de Vida , Masculino , Persona de Mediana Edad , Tamaño de los Órganos/genética , Valores de Referencia , Factores de Riesgo , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Ultrasonografía
13.
Arch. endocrinol. metab. (Online) ; 59(6): 487-494, Dec. 2015. tab, graf
Artículo en Inglés | LILACS | ID: lil-767924

RESUMEN

Objectives Decreased thyroid volume has been related to increased prevalence of thyroid cancer. Subjects and methods One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). Results Age-, sex-, body mass index- and smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). Conclusions Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Interacción Gen-Ambiente , Glándula Tiroides , Estudios Transversales , Predisposición Genética a la Enfermedad/epidemiología , Hungría/epidemiología , Tamaño de los Órganos/genética , Prevalencia , Medición de Riesgo , Glándula Tiroides/anatomía & histología , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
14.
Arch Endocrinol Metab ; 59(6): 487-94, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26421673

RESUMEN

OBJECTIVES: Decreased thyroid volume has been related to increased prevalence of thyroid cancer. SUBJECTS AND METHODS: One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). RESULTS: Age-, sex-, body mass index- and smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). CONCLUSIONS: Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects.


Asunto(s)
Interacción Gen-Ambiente , Glándula Tiroides/diagnóstico por imagen , Adulto , Estudios Transversales , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Humanos , Hungría/epidemiología , Masculino , Persona de Mediana Edad , Tamaño de los Órganos/genética , Prevalencia , Medición de Riesgo , Glándula Tiroides/anatomía & histología , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Ultrasonografía
15.
J Pediatr ; 166(3): 731-5, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25578994

RESUMEN

OBJECTIVE: Using a twins study, we sought to assess the contribution of genetic against environmental factor as they affect the age at transition from infancy to childhood (ICT). STUDY DESIGN: The subjects were 56 pairs of monozygotic twins, 106 pairs of dizygotic twins, and 106 pairs of regular siblings (SBs), for a total of 536 children. Their ICT was determined, and a variance component analysis was implemented to estimate components of the familial variance, with simultaneous adjustment for potential covariates. RESULTS: We found substantial contribution of the common environment shared by all types of SBs that explained 27.7% of the total variance in ICT, whereas the common twin environment explained 9.2% of the variance, gestational age 3.5%, and birth weight 1.8%. In addition, 8.7% was attributable to sex difference, but we found no detectable contribution of genetic factors to inter-individual variation in ICT age. CONCLUSIONS: Developmental plasticity impacts much of human growth. Here we show that of the ∼50% of the variance provided to adult height by the ICT, 42.2% is attributable to adaptive cues represented by shared twin and SB environment, with no detectable genetic involvement.


Asunto(s)
Envejecimiento/fisiología , Desarrollo Infantil , Ambiente , Historia Reproductiva , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Factores de Edad , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Factores Sexuales
16.
Eur J Pain ; 18(10): 1410-8, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24733726

RESUMEN

BACKGROUND: Heritability and population-specific lifestyle factors are considered to significantly contribute to chronic low back pain (LBP), but traditional population studies fail to (1) adjust for genetics; and (2) use standard and validated definitions for LBP and for lifestyle factors. METHODS: Using a classical and a co-twin control study design and validated definitions for chronic LBP and lifestyle variables, we explored the relative contribution of genetics and environment on the prevalence of chronic LBP in a sample of adult Australian twins. RESULTS: Data from 105 twin pairs showed that the prevalence of chronic LBP is significantly determined by genetic factors (heritability = 32%). Additionally, monozygotic twins were five times more likely to have chronic LBP than dizygotic twins when one of the siblings of the pair was affected. In a case-control analysis (n = 38 twin pairs), an exploratory analysis showed higher prevalence of chronic LBP associated with light walking exercises and vigorous gardening or heavy work around the house. Daily time spent in sitting was also positively associated with chronic LBP, but not moderate physical activities such as jogging, cycling and gentle swimming. In the final multivariate model, only time spent in vigorous gardening or heavy work around the house remained associated with chronic LBP (odds ratio 6.5; 95% confidence interval 1.47-28.8). CONCLUSIONS: The type, frequency and duration of physical activity may be important to understand risk factors for chronic LBP. The causation path between chronic LBP and people's engagement in activities involving frequent bending and twisting such as gardening and housework should be further investigated.


Asunto(s)
Dolor Crónico/genética , Estilo de Vida , Dolor de la Región Lumbar/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Consumo de Bebidas Alcohólicas/epidemiología , Australia/epidemiología , Dolor Crónico/epidemiología , Femenino , Jardinería/estadística & datos numéricos , Predisposición Genética a la Enfermedad , Tareas del Hogar/estadística & datos numéricos , Humanos , Modelos Logísticos , Dolor de la Región Lumbar/epidemiología , Masculino , Persona de Mediana Edad , Análisis Multivariante , Prevalencia , Factores de Riesgo , Fumar/epidemiología , Gemelos Dicigóticos/estadística & datos numéricos , Gemelos Monocigóticos/estadística & datos numéricos , Caminata/estadística & datos numéricos
17.
Rev. cuba. oftalmol ; 26(2): 339-344, mayo-ago. 2013.
Artículo en Español | CUMED | ID: cum-60221

RESUMEN

Caso clínico: se informa el caso de una pareja de gemelas dicigóticas con diagnóstico de glaucoma crónico de ángulo estrecho en 2004, cuyol padre murió ciego; una hija de una de ellas fue diagnosticada posteriormente como afectada de glaucoma crónico de ángulo abierto. Se determinó la cigosidad de las gemelas mediante protocolo establecido al respecto. En los 4 ojos de las pacientes se determinaron presiones intraoculares por aplanación en cifras que fluctuaban entre 26-32 mmHg, cámaras anteriores y ángulos camerulares estrechos, perimetrías computarizadas tubulares en 3 ojos respetando los 5° centrales y en otro tubular que respetaba los 10° centrales con atrofias ópticas en evolución en los 4 ojos. Se efectuó trabeculectomía bilateral en ambas pacientes y se mantuvo el control de su enfermedad glaucomatosa. Conclusiones: se plantea la necesidad de la búsqueda de otros afectados en un núcleo familiar donde se diagnostiquen pacientes con glaucoma crónico de ángulo estrecho(AU)


Clinical case: here is the case of a dizygotic twin pair diagnosed with chronic narrow-angle glaucoma in 2994. Their father had died blind and a daughter of one of them was later diagnosed as a chronic open-angle glaucoma patient. A specific protocol allowed determining the zygocity of the twins. The intraocular pressures in the four eyes of the patients were measured with applanation tonometry and ranged 26-32 mmHg, narrow anterior chambers and camerular angles, computerized tubular perimetries in three eyes around central 5° and another tubular perimetry of central 10°, with developing atrophies in the four eyes. Both patients underwent bilateral trabeculectomy and the control over their glaucoma disease was kept. Conclusions: It is necessary to look for other people affected in a family setting where there exists diagnosis of chronic narrow-angle glaucoma(AU)


Asunto(s)
Humanos , Femenino , Anciano , Gemelos Dicigóticos/genética , Glaucoma de Ángulo Cerrado/diagnóstico , Trabeculectomía/métodos , Agudeza Visual , Epidemiología Descriptiva , Estudios Observacionales como Asunto
18.
Rev. cuba. oftalmol ; 26(2): 339-344, mayo.-ago. 2013.
Artículo en Español | LILACS | ID: lil-695043

RESUMEN

Caso clínico: se informa el caso de una pareja de gemelas dicigóticas con diagnóstico de glaucoma crónico de ángulo estrecho en 2004, cuyol padre murió ciego; una hija de una de ellas fue diagnosticada posteriormente como afectada de glaucoma crónico de ángulo abierto. Se determinó la cigosidad de las gemelas mediante protocolo establecido al respecto. En los 4 ojos de las pacientes se determinaron presiones intraoculares por aplanación en cifras que fluctuaban entre 26-32 mmHg, cámaras anteriores y ángulos camerulares estrechos, perimetrías computarizadas tubulares en 3 ojos respetando los 5° centrales y en otro tubular que respetaba los 10° centrales con atrofias ópticas en evolución en los 4 ojos. Se efectuó trabeculectomía bilateral en ambas pacientes y se mantuvo el control de su enfermedad glaucomatosa. Conclusiones: se plantea la necesidad de la búsqueda de otros afectados en un núcleo familiar donde se diagnostiquen pacientes con glaucoma crónico de ángulo estrecho


Clinical case: here is the case of a dizygotic twin pair diagnosed with chronic narrow-angle glaucoma in 2994. Their father had died blind and a daughter of one of them was later diagnosed as a chronic open-angle glaucoma patient. A specific protocol allowed determining the zygocity of the twins. The intraocular pressures in the four eyes of the patients were measured with applanation tonometry and ranged 26-32 mmHg, narrow anterior chambers and camerular angles, computerized tubular perimetries in three eyes around central 5° and another tubular perimetry of central 10°, with developing atrophies in the four eyes. Both patients underwent bilateral trabeculectomy and the control over their glaucoma disease was kept. Conclusions: It is necessary to look for other people affected in a family setting where there exists diagnosis of chronic narrow-angle glaucoma


Asunto(s)
Humanos , Femenino , Anciano , Gemelos Dicigóticos/genética , Glaucoma de Ángulo Cerrado/diagnóstico , Trabeculectomía/métodos , Agudeza Visual , Epidemiología Descriptiva , Estudios Observacionales como Asunto
19.
J Pediatr ; 158(2): 234-8.e1, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20850766

RESUMEN

OBJECTIVE: To assess the genetic contribution to late-onset sepsis in twins in the newborn intensive care unit. STUDY DESIGN: A retrospective cohort analysis of twins born from 1994 to 2009 was performed on data collected from the newborn intensive care units at Yale University and the University of Connecticut. Sepsis concordance rates were compared between monozygotic and dizygotic twins. Mixed-effects logistic regression analysis was performed to determine the impact of selected nongenetic factors on late-onset sepsis. The influence of additive genetic and common and residual environmental effects were analyzed and quantified. RESULTS: One hundred seventy monozygotic and 665 dizygotic twin pairs were analyzed, and sepsis identified in 8.9%. Mean gestational age and birth weight of the cohort was 31.1 weeks and 1637 grams, respectively. Mixed-effects logistic regression determined birth weight (regression coefficient, -0.001; 95% CI, -0.003 to 0.000; P = .028), respiratory distress syndrome (regression coefficient, 1.769; 95% CI, 0.943 to 2.596; P < .001), and duration of total parenteral nutrition (regression coefficient, 0.041; 95% CI, 0.017 to 0.064; P < .001) as significant nongenetic factors. Further analysis determined 49.0% (P = .002) of the variance in liability to late-onset sepsis was due to genetic factors alone, and 51.0% (P = .001) the result of residual environmental factors. CONCLUSIONS: Our data support significant genetic susceptibility to late-onset sepsis in the newborn intensive care unit population.


Asunto(s)
Patógenos Transmitidos por la Sangre/aislamiento & purificación , Infección Hospitalaria/genética , Exposición a Riesgos Ambientales/efectos adversos , Predisposición Genética a la Enfermedad/epidemiología , Sepsis/genética , Gemelos , Edad de Inicio , Peso al Nacer , Estudios de Cohortes , Intervalos de Confianza , Infección Hospitalaria/epidemiología , Femenino , Mortalidad Hospitalaria/tendencias , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Modelos Logísticos , Masculino , Pronóstico , Estudios Retrospectivos , Sepsis/epidemiología , Tasa de Supervivencia , Factores de Tiempo , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
20.
Twin Res Hum Genet ; 13(5): 482-9, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20874471

RESUMEN

The genetic and environmental contributions to determine digital dermatoglyphic traits were investigated by using female dizygotic and monozygotic twin pairs to estimate heritability indexes (h(2)). The evaluated sample was composed by 20 monozygotic twin pairs and 13 dizygotic twin pairs. A significant heritability (h(2) = 0.65 to 0.96) was observed for 12 dermatoglyphic characteristics (delta indexes and ridge counts for right hand, left hand and both hands, and ridge counts for most individual fingers). A negative correlation between the ridge counts and heritability indexes from individual fingers was found for the left hand, which appears to be associated to a higher arch pattern frequency in most left-hand fingers, since this frequency was negatively correlated with ridge counts and positively correlated with heritability indexes. Heritability indexes of right-hand fingers were positively correlated with loop pattern frequency and negatively correlated with whorl pattern frequency. The low heritability of ridge counts from left thumb, ring and little fingers (h(2) = 0.11 to 0.32) indicates a higher chance that the chorion type had an influence in the intra-pair variance of monozygotic twins. Results confirmed the predominant genetic influence on the total ridge count. The heritability indexes varied in up to 8 times between different fingers and its association to ridge counts and pattern frequency was very variable between hands, evidencing that the use of dermatoglyphic traits from individual fingers as indicators of genetic influences to other human traits should consider this variability.


Asunto(s)
Dermatoglifia , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Brasil , Niño , Femenino , Estudios de Asociación Genética , Variación Genética , Humanos , Adulto Joven
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