Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.

We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of three weeks. Later, histological analysis of her pancreas in a research setting revealed a focal form of CHI. Genetic testing was not available at that time. The patient developed pancreatic exocrine deficiency and insulin-dependent diabetes at the age of 9 years. In 2016, a genetic test revealed a missense heterozygous variant in the ABCC8 gene inherited from her father and classified as having a recessive inheritance. The geneticist concluded that the risk of CHI for her offspring would be low (1/600), making pregnancy favourable. As there was no consanguinity in the family, testing the future father was deemed unnecessary (carrier frequency 1/150 in the general population). The pregnancy occurred spontaneously in 2020 and at a gestational age of 28 weeks, the mother went into premature labour. An emergency C-section was performed in April 2021 resulting in the birth of bichorial bi-amniotic male twins. Following birth, both newborns experienced persistent severe hypoglycaemia which required glucagon treatment and intravenous glucose infusion initially, followed by Diazoxide from day 51 after birth, without satisfactory response. Continuous intravenous Octreotide treatment was introduced on day 72. Due to the recurrence of hypoglycaemia episodes despite reaching maximum doses of Octreotide, from day 92 the treatment was switched to Pasireotide. Genetic tests revealed the same genotypes for both infants: the exon 39 missense variant (c.4716C>A; p.Ser1572Arg) inherited from their mother and a truncating variant in exon 28 (c.3550del; p.Val1184*), inherited from their asymptomatic father. As a result of inheriting two recessive variants of the ABCC8 gene, the children were diagnosed with a diffuse form of CHI, consistent with the diazoxide-unresponsive presentation. This situation is very rare outside consanguinity. This case emphasises the significance of genetic counselling for individuals with a history of rare diseases outside the context of consanguinity, as there is a potential risk of recurrence. Prenatal diagnosis can lead to better outcomes for affected neonates, as well as help families make informed decisions about future pregnancies.

The Population-Based Hungarian Twin Registry: An Update.

Between 2006 and 2021, the Hungarian Twin Registry (HTR) operated a volunteer twin registry of all age groups (50% monozygotic [MZ], 50% dizygotic [DZ], 70% female, average age 34 ± 22 years), including 1044 twin pairs, 24 triplets and one quadruplet set. In 2021, the HTR transformed from a volunteer registry into a population-based one, and it was established in the Medical Imaging Centre of Semmelweis University in Budapest. Semmelweis University's innovation fund supported the development of information technology, a phone bank and voicemail infrastructure, administrative materials, and a new website was established where twins and their relatives (parent, foster parent or caregiver) can register. The HTR's biobank was also established: 157,751 individuals with a likely twin-sibling living in Hungary (77,042 twins, 1194 triplets, 20 quadruplets, and one quintuplet) were contacted between February and March of 2021 via sealed letters. Until November 20, 2022, 12,001 twin individuals and their parents or guardians (6724 adult twins, 3009 parents/guardians and 5277 minor twins) registered, mostly online. Based on simple self-reports, 37.6% of the registered adults were MZ twins and 56.8% were DZ; 1.12% were triplets and 4.5% were unidentified. Of the registered children, 22.3% were MZ, 72.7% were DZ, 1.93% were triplets, and 3.05% were unidentified. Of the registered twins, 59.9% were female (including both the adult and minor twins). The registration questionnaire consists of eight parts, including socio-demographic and anthropometric data, smoking habits and medical questions (diseases, operations, therapies). Hungary's twin registry has become the sole and largest population-based twin registry in Central Eastern Europe. This new resource will facilitate performing world-class modern genetic research.

Tissue-specific nonheritable influences drive endometrial immune system variation.

Although human twin studies have revealed the combined contribution of heritable and environmental factors in shaping immune system variability in blood, the contribution of these factors to immune system variability in tissues remains unexplored. The human uterus undergoes constant regeneration and is exposed to distinct environmental factors. To assess uterine immune system variation, we performed a system-level analysis of endometrial and peripheral blood immune cells in monozygotic twins. Although most immune cell phenotypes in peripheral blood showed high genetic heritability, more variation was found in endometrial immune cells, indicating a stronger influence by environmental factors. Cytomegalovirus infection was identified to influence peripheral blood immune cell variability but had limited effect on endometrial immune cells. Instead, hormonal contraception shaped the local endometrial milieu and immune cell composition with minor influence on the systemic immune system. These results highlight that the magnitude of human immune system variation and factors influencing it can be tissue specific.

Familial Chiari malformation: a systematic review and illustrative cases.

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.

Surgically Treated Degenerative Lumbar Spine Diseases in Twins.

BACKGROUND: There is growing evidence to suggest a potential genetic component underlying the development and progression of lumbar spine diseases. However, the heritability and the concordance rates for the phenotypes requiring surgery for the common spine diseases lumbar spinal stenosis (LSS) and lumbar disc herniation (LDH) are unknown. The aim of this study was to determine the heritability and the concordance rates for LSS and LDH requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. METHODS: Patients between 18 and 85 years of age who underwent surgery for LSS or LDH between 1996 and 2022 were identified in the national Swedish spine registry (LSS: 45,110 patients; LDH: 39,272 patients), and matched with the Swedish Twin Registry to identify MZ and DZ twins. Pairwise and probandwise concordance rates, heritability estimates, and MZ/DZ concordance ratios were calculated. RESULTS: We identified 414 twin pairs (92 MZ and 322 DZ pairs) of whom 1 or both twins underwent surgery for LSS. The corresponding number for LDH was 387 twin pairs (118 MZ and 269 DZ pairs). The probandwise concordance rate for LSS requiring surgery was 0.25 (26 of 105) (95% confidence interval [CI], 0.14 to 0.34) for MZ twins and 0.04 (12 of 328) (95% CI, 0.01 to 0.07) for DZ twins. The corresponding values for LDH requiring surgery were 0.03 (4 of 120) (95% CI, 0 to 0.08) and 0.01 (4 of 271) (95% CI, 0 to 0.04), respectively. The probandwise MZ/DZ concordance ratio was 6.8 (95% CI, 2.9 to 21.5) for LSS and 2.3 (95% CI, 0 to 8.9) for LDH. The heritability was significantly higher in LSS compared with LDH (0.64 [95% CI, 0.50 to 0.74] versus 0.19 [95% CI, 0.08 to 0.35]). CONCLUSIONS: Our findings suggest that genetic factors may play an important role in the risk of developing LSS requiring surgery, whereas heredity seems to be of less importance in LDH requiring surgery. LEVEL OF EVIDENCE: Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.

Surgically treated degenerative disk disease in twins.

PURPOSE: Previous studies have suggested that genetic factors are important in the development of degenerative disk disease (DDD). However, the concordance rates for the phenotypes requiring surgery are unknown. The purpose of this study was to determine the concordance rates for DDD requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. METHODS: Patients, aged between 18 and 85 years, operated for DDD between 1996 and 2022 were identified in the national Swedish spine register (Swespine) and matched with the Swedish twin registry (STR) to identify MZ and DZ twins. Pairwise and probandwise concordance rates were calculated. RESULTS: We identified 11,207 patients, 53% women, operated for DDD. By matching the Swespine patients with the STR, we identified 121 twin pairs (37 MZ and 84 DZ) where one or both twins were surgically treated for DDD. The total twin incidence for operated DDD was 1.1%. For DDD requiring surgery, we found no concordant MZ pair and no concordant DZ pair where both twins were operated for DDD. When we evaluated pairs where at least one twin was operated for DDD, we found two concordant MZ pairs (the co-twins were operated for spinal stenosis) and two  concordant DZ pairs (one co-twin operated for spinal stenosis and one (co-twin operated for disk herniation). CONCLUSIONS: Our findings suggest that genetic factors are probably not a major etiologic component in most cases of DDD requiring surgery. The findings of this study can be used for counseling patients about the risk for requiring DDD surgery.

Twin studies as an innovative approach to address research questions in cancer care within primary care settings.

This paper proposes the utilisation of twin studies as a novel and powerful methodological approach to investigate critical research questions pertaining to cancer prevention, screening, diagnosis, treatment and survivorship within primary care contexts. The inherent genetic similarity between monozygotic (MZ) (identical) twins provides a unique opportunity to disentangle genetic and environmental influences on cancer-related outcomes. MZ twins share virtually identical genetic makeup, offering a unique opportunity to discern the relative contributions of genetic and environmental factors to cancer-related outcomes. In contrast, dizygotic (DZ) twins, also known as fraternal twins, develop from two separate eggs fertilised by two different sperm and share on average 50% of their genetic material, the same level of genetic similarity found in non-twin siblings. Comparisons between MZ and DZ twins enable researchers to disentangle hereditary factors from shared environmental influences. This methodology has the potential to advance our understanding of the multifaceted interplay between genetic predisposition, lifestyle factors and healthcare interventions in the context of cancer care. This paper outlines the rationale, design considerations and potential applications of twin studies in primary care-based cancer research.

Dental arch characteristics among South Indian twins - A morphometric study

Genetic and environmental factors are essential in occlusal variations and malocclusion and have been of considerable interest to orthodontists. Studies on twin pairs are one of the most effective methods for investigating genetically determined occlusal variables. Many studies have focused on distances between first molars or between canines but malocclusions can also occur in other regions of the dental arch. Aim: To evaluate the characteristics of the dental arch between pairs of Monozygotic (MZ) and Dizygotic (DZ) twins from Southern India. Methods: A random sample of 51 twin pairs (12­18years old) participated in this study. The zygosity of twin pairs was recorded by facial appearance. The occlusion of the first permanent molars was recorded according to Angle's classification. Study models were prepared to assess dental arch characteristics (i.e., arch form, arch perimeter, arch length; intercanine, intermolar width, and teeth size discrepancy). The obtained data was statistically analyzed using SPSS software 19.0. The student's t-test (two-tailed, independent) and Chi-square test was used to determine the significance of studied parameters. Results: Angle's Class I molar relation was more commonly observed followed by the Class II molar relationship among twins. The measured dental arch dimensions did not show a statistically significant difference among twin pairs. The ovoid arch form was commonly observed among Monozygotic and Dizygotic Twins. There was a similarity among MZ and DZ twins in the anterior and overall Bolton's ratio. Conclusion: There were similar occurrences of measured parameters among twins, which showed genetic predominance in the expression of measured dental arch traits

Twins from different fathers: A heteropaternal superfecundation case report in Colombia / Gemelos de diferentes padres: un caso de superfecundación heteropaternal en Colombia

Abstract: 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.

Resumen: 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.

Reflexiones sobre la ingeniería genética: a propósito del nacimiento de gemelas sometidas a edición génica / Considerations on genetic engineering: regarding the birth of twins subjected to gene edition

Resumen En este ensayo se analizan las implicaciones bioéticas de la reciente manipulación genética en embriones humanos con CRISPR-Cas9 para eliminar el gen CCR5 y el nacimiento de dos gemelas discordantes. El experimento se divulgó en medios sociales. Los principales problemas bioéticos identificados son la justificación del modelo, el proceso de consentimiento informado y la falta de declaración de evidentes conflictos de interés. No se evaluaron apropiadamente las consecuencias del experimento sobre la vida de las gemelas nacidas como la afectación a su autonomía, los supuestos beneficios por recibir y los riesgos futuros de daño durante su vida. Habiendo manipulado la línea celular germinal, no se consideraron los efectos sobre su descendencia futura. Este tipo de acciones tiene un impacto negativo en la forma como la sociedad concibe la ciencia. La ingeniería genética debe reservarse al contexto experimental básico o bien como investigación cínica para la corrección de enfermedades conocidas graves de origen genético, bajo estricta supervisión regulatoria y bioética y de manera gradualista de acuerdo con el progreso de las técnicas de edición genética.

Abstract In this essay, the bioethical implications of the recent genetic manipulation in human embryos with CRISPR-Cas9 to eliminate the CCR5 gene and the birth of a pair of discordant twin girls are analyzed. The experiment was disseminated via social media. The main bioethical flaws identified include the justification of the model, the informed consent process and the lack of disclosure of evident conflicts of interest. The consequences of the experiment on the life of the twins that were born were not properly evaluated, such as the impact on their autonomy, the alleged benefits to be received and the future risks of harm during their lifetime. Having manipulated the germ cell line, the effects on their future offspring were not considered. This type of actions negatively affects the way society conceives science. Genetic engineering should be reserved to the basic experimental context or as clinical research for the correction of known serious diseases of genetic origin under strict regulatory and bioethical supervision and using a gradualist approach in accordance with the advances of gene editing techniques.

Placental weight and birth weight to placental weight ratio in monochorionic and dichorionic growth-restricted and non-growth-restricted twins

OBJECTIVE: The aim of the present study was to compare the placental weight and birth weight/placental weight ratio for intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. METHODS: This was a retrospective analysis of placentas from twin pregnancies. Placental weight and the birth weight/placental weight ratio were compared in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. The association between cord insertion type and placental lesions in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins was also investigated. RESULTS: A total of 105 monochorionic (intrauterine growth restriction=40; non-intrauterine growth restriction=65) and 219 dichorionic (intrauterine growth restriction=57; non-intrauterine growth restriction=162) placentas were analyzed. A significantly lower placental weight was observed in intrauterine growth-restricted monochorionic (p=0.022) and dichorionic (p<0.001) twins compared to non-intrauterine growth-restricted twins. There was no difference in the birth weight/placental weight ratio between the intrauterine growth restriction and non-intrauterine growth restriction groups for either monochorionic (p=0.36) or dichorionic (p=0.68) twins. Placental weight and the birth weight/placental weight ratio were not associated with cord insertion type or with placental lesions. CONCLUSION: Low placental weight, and consequently reduced functional mass, appears to be involved in fetal growth restriction in monochorionic and dichorionic twins. The mechanism by which low placental weight influences the birth weight/placental weight ratio in intrauterine growth-restricted monochorionic and dichorionic twins needs to be determined in larger prospective studies.

Genetic and Environmental Effects on the Abdominal Aortic Diameter Development / Efeitos Genéticos e Ambientais no Desenvolvimento do Diâmetro da Aorta Abdominal

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.

Genetic and environmental influence on thyroid gland volume and thickness of thyroid isthmus: a twin study

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.

Glaucoma crónico de ángulo estrecho en gemelas dicigóticas / Chronic narrow-angle glaucoma found in dizygotic twins

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

Variabilidade na coordenação motora: uma abordagem centrada no delineamento gemelar / Variabilidad en la coordinación motora: un enfoque centrado en el delineamiento gemelar / Variability in motor coordination: an approach based on the twin design

O propósito deste estudo foi estimar a contribuição dos fatores genéticos e ambientais na variabilidade do desempenho interindividual na coordenação motora. A amostra foi constituída por 64 pares de gêmeos portugueses, com idades entre cinco e 14 anos. Avaliou-se o desempenho da coordenação através das quatro provas da bateria KTK: equilíbrio à retaguarda (ER); saltos monopedais (SM); transposição lateral (TL); saltos laterais (SL). Calculou-se o coeficiente de correlação intraclasse (t), sendo estimada a contribuição dos fatores genéticos (a²), ambientais comuns (c²) e únicos (e²). Os resultados mostram valores de t mais elevados entre gêmeos monozigóticos, sugerindo presença de fatores genéticos. Entretanto, estimativas de a² foram baixas, variando entre 15% (TL) e 41% (SM), enquanto para c² situaram-se entre 46% (SL) e 58% (TL), e para e² entre 11% (SM) e 28% (TL). Conclui-se que fatores ambientais são responsáveis pela maior parcela de influência na variabilidade do desempenho na coordenação motora.

The purpose of this study was to estimate the contribution of environmental and genetic factors on the variability of interindividual performance in motor coordination. Sample comprised 64 twin pairs, aged 5 to 14 years old, from Portugal. Motor coordination was evaluated by KTK battery: backward balance (ER); hopping on one leg (SM); shifting platforms (TL); jumping sideways (SL). Intraclass correlation coefficient (t) was calculated. Contributions of genetic (a²), shared (c²) and unique environmental (e²) factors were estimated. Our results showed t values higher in monozygotic twins, suggesting the presence of genetic factors. Nevertheless, a² estimates were low, ranging from 15% (TL) to 41% (SM), while to common environment (c²) ranged from 46% (SL) to 58% (TL), and unique effects ranged from 11% (SM) to 28% (TL). These results suggest that environmental factors are responsible for the greatest part of influence on variability of interindividual performance in motor coordination tests.

El objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la vEl objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la variabilidad del desempeño interindividual en la coordinación motora. La muestra fue constituida por 64 pares de gemelos portugueses, con edades entre 5 y 14 años. Se evaluó el desempeño de la coordinación a través de las cuatro pruebas de la batería KTK: equilibrio a la retaguardia (ER); saltos monopedales (SM); transposición lateral (TL); saltos laterales (SL). Se calculó el coeficiente intraclase (t), siendo estimada la contribución de los factores genéticos (a²), ambientales comunes (c²) y únicos (e²). Los resultados muestran valores t mas elevados entre gemelos monocigóticos, sugiriendo la presencia de factores genéticos. Por otro lado, estimaciones de a² fueron bajas, variando entre 15% (TL) y 41% (SM), mientras para c² se sitúan entre 46% (SL) y 58% (TL), y para e² entre 11% (SM) y 28% (TL). Se concluye que factores ambientales son responsables por la mayor porción de influencia de la variabilidad del desempeño en la coordinación motora.

Caracterización de gemelos con esquizofrenia en el municipio de Santiago de Cuba / Characterization of twins with schizophrenia in the municipality of Santiago de Cuba

Se realizó un estudio descriptivo y transversal de 24 pares de gemelos con diagnóstico de esquizofrenia, independientemente de su cigosidad, del municipio de Santiago de Cuba durante el período febrero-abril de 2007, seleccionados mediante un muestreo aleatorio simple, a fin de caracterizarles. Entre las principales observaciones se tuvo en cuenta que la edad promedio de inicio de los síntomas fue más baja en los monocigóticos y los antecedentes prenatales aumentaron el riesgo de la enfermedad. Se constató la existencia de precedentes familiares, con superioridad de los parientes de primer grado. Hubo una mayor frecuencia de concordancia entre gemelos monocigóticos, así como un alto porcentaje en la heredabilidad.

A descriptive and cross-sectional study was conducted in 24 pairs of twins diagnosed with schizophrenia, irrespective of their zygosity, in Santiago de Cuba municipality from February to April, 2007, selected by means of a simple random sampling to characterize them. It was mainly observed that the average age of symptom onset was lower in monozygotic twins and prenatal history increased the risk of disease. The presence of family history was verified, with a predominance of first-degree relatives. There was a higher frequency of concordance between monozygotic twins, as well as a high percentage of heritability.

Perinatal outcome of twin pregnancies delivered in a teaching hospital / Resultado perinatal de gestações gemelares com parto em hospital universitário

OBJECTIVE: This study aimed to evaluate the perinatal outcome of twin pregnancies delivered in a tertiary teaching hospital according to chorionicity. METHODS: A retrospective study involving 289 twin pregnancies delivered from January 2003 to December 2006 was carried out. Maternal and perinatal data were obtained from hospital charts and delivery logs. Chorionicity was determined by ultrasonography or histopathological study. RESULTS: Incidence of twin gestations was 3.4 percent and 96.4 percent were spontaneously conceived. 60.5 percent were dichorionic (DC), 30.8 percent of monochorionic diamniotic (MCDA), 6.6 percent monochorionic monoamniotic (MCMA) and for 2.1 percent chorionicity was unknown. The mean gestation age at delivery was respectively 35.4, 33.6, 32.9 for DC, MCDA and MCMA. The mean birth weight was 2.171, 1.832 and 1.760 g respectively for DC, MC and MCMA. The proportion of fetuses delivered with less than 34 weeks in DC was of 21.7 percent, while in MCDA it was of 39.3 percent and in MCMA of 42.1 percent. Birth weight below the 10th centile occurred in 15.7 percent for DC, 22.5 percent for MCDA and 26.3 percent in MCMA. Congenital anomalies were observed in 21.3 percent in monochorionic and in 7.4 percent in the dichorionic. Lenght of hospital stay was shorter for DC when compared to MCDA and MCMA twins (13.1, 17.3 and 23.3 days, respectively). The proportion of twin pregnancies with both babies discharged alive were 85.7 percent in DC and 61.1 percent in MC. CONCLUSION: The rate of preterm deliveries and low birth weight is higher in monochorionic pregnancies when compared to dichorionic twins. However, when adjusted for complications such as fetal abnormalities and twin-twin transfusion syndrome, double survival rates were similar in the two groups.

OBJETIVO: Avaliar o resultado perinatal nas gestações gemelares com partos em hospital universitário segundo a corionicidade. MÉTODOS: Estudo retrospectivo de 289 gestações gemelares com partos no Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, no período de janeiro de 2003 a dezembro de 2006. Os dados maternos e fetais foram obtidos através dos livros de parto e dos prontuários da instituição. A corionicidade foi determinada pela ultrassonografia ou pelo exame anatomopatológico. RESULTADOS: A incidência de gestação gemelar foi de 3,4 por cento sendo 96,6 por cento naturalmente concebidas. Dos 578 conceptos, 60,5 por cento eram de gestações dicoriônicas (DC), 30,8 por cento monocoriônicas diamnióticas (MCDA), 6,6 por cento monocoriônicas monoamnióticas (MCMA) e em 2,1 por cento a corionicidade era desconhecida. A idade gestacional (IG) média do parto foi de 34,6 semanas (DP= 3,9) e o peso médio ao nascimento foi de 2.031g (DP= 693). Nas gestações DC a IG média foi de 35,4 semanas (DP=3,5); MCDA foi de 33,6 (DP=3,9) e nas MCMA foi de 32,9 (DP= 4,5), sendo estatisticamente significativo. O peso médio ao nascer foi 2.171g, 1.832g e 1.760g, respectivamente, para as gestações DC, MCDC e MCMA. A proporção de fetos com IG no parto abaixo de 34 semanas nas gestações DC foi de 21,7 por cento enquanto nas MCDA foi de 39,3 por cento e nas MCMA foi de 42,1 por cento. A frequência de fetos abaixo do percentil 10 para gêmeos foi 15,7 por cento DC, 22,5 por cento MCDA e 26,3 por cento nas MCMA. As malformações fetais foram observadas em 21,3 por cento das monocoriônicas e em 7,4 por cento nas dicoriônicas. O período de hospitalização foi menor nas dicorionicas quando comparadas com as MCDA e MCMA (17,1; 17,3 e 23,3 dias, respectivamente). A porcentagem de alta hospitalar de ambos os recém-nascidos com vida foi maior nas gestações DC (85,7 por cento) do que nas gestações MC (61,1 por cento), porém quando excluídas as complicações (malformações fetais e a síndrome da transfusão feto-fetal) a sobrevida de ambos os recém-nascidos nas MC foi de 80 por cento. CONCLUSÃO: A idade gestacional do parto, o peso ao nascimento e a restrição do crescimento fetal são significativamente menores nas gestações monocoriônicas. A chance de o casal levar para casa dois filhos vivos é semelhante nas gestações dicoriônicas e nas monocoriônicas na ausência de complicações. Porém, na presença de malformações e da síndrome da transfusão feto-fetal, esta chance se reduz para 60 por cento, sendo pior nas monocoriônica monoamnóticas.

Desenvolvimento cognitivo e de linguagem expressiva em um par de gêmeos dizigóticos: influência da síndrome de Down e da prematuridade associada ao muito baixo peso / Expressive language and cognitive development in a dizygotic twin pair: influence of Down syndrome and prematurity combined with very low birth-weight

O objetivo deste estudo foi descrever o desenvolvimento cognitivo e de linguagem expressiva de uma criança com síndrome de Down (SD) e seu gemelar, ambos nascidos pré-termo muito baixo peso (PTMBP), observando a influência da SD e da prematuridade associada ao muito baixo peso no processo de desenvolvimento durante o período sensório-motor. Participaram deste estudo um par de gêmeos dizigóticos, ambos do sexo masculino, nascidos PTMBP, sendo que apenas um apresentava SD. A idade inicial dos sujeitos foi de sete meses e quatro dias de idade cronológica e quatro meses e 21 dias de idade corrigida, considerando que nasceram com 29 semanas de gestação, pesando menos de 1500g. Os sujeitos foram acompanhados durante 12 meses em sessões quinzenais de 45 minutos e os dados foram registrados mensalmente em vídeo. O Protocolo para Observação do Desenvolvimento Cognitivo e de Linguagem Expressiva (PODCLE) foi utilizado para coleta e análise dos dados. Foram observadas diferenças significativas entre os gêmeos com relação ao desenvolvimento cognitivo e de linguagem expressiva. Apesar de apresentar melhor desempenho, o gemelar que não apresentava SD demonstrou um atraso importante, considerando-se as referências em relação ao desenvolvimento típico, evidenciando a influência da prematuridade associada ao muito baixo peso no desenvolvimento de linguagem e cognição. Os resultados obtidos para o outro gemelar sugerem que a SD levou ao aumento significativo deste atraso. A SD e a prematuridade associada ao muito baixo peso são condições que interferiram de forma negativa no desenvolvimento cognitivo e de linguagem expressiva apresentado pelo par de gêmeos estudado.

The aim of this study was to describe expressive language and cognitive development in a child with Down syndrome (DS) and his twin brother, both born preterm very low birth-weight (VLBW), observing the influence of Down syndrome and prematurity combined with very low birth-weight on their development process during the sensorimotor period. Participated in this study a pair of VLBW preterm dizygotic male twins, one of whom presented Down syndrome. The subjects' initial chronological age was seven months and four days and their initial corrected age was four months and 21 days. The twins were born with 29 weeks of gestational age and weighting less than 1500g. The subjects were followed up during 12 months in 45-minute fortnight sessions, monthly recorded in video. The Protocol for Expressive Language and Cognitive Development Observation (PELCDO) was used for data gathering and data analysis. Significant differences were observed between the twin brothers concerning expressive language and cognitive development. Although the twin without DS showed better performance, he still presented a relevant delay, considering the references for typically developing children. This finding evidences the influence of prematurity combined with very low birth weight on expressive language and cognitive development. The results found for the other twin suggest that DS led to a significant increase of this delay. DS and prematurity combined with very low birth weight are conditions that negatively interfered on expressive language and cognitive development of the twin pair studied.

Hipertensión arterial en gemelos: Colón: Matanzas: 2007 / Arterial hypertension in twins: Colón: Matanzas: 2007

La Genética médica en Cuba evolucionó con los estudios de carácter nacional y la formación de másteres en asesoramiento genético, con ello la salud de los adultos cambió. La hipertensión arterial representa un signo clínico, una enfermedad y un factor de riesgo. Está entre las enfermedades no transmisibles que afectan la población adulta del mundo, de Cuba, la provincia de Matanzas y el municipio de Colón, con incrementos en la morbimortalidad. Por ello se realizó un estudio analítico transversal sobre hipertensión arterial en gemelos, en Colón, desde el 3 de febrero hasta el 10 de mayo del 2007. Sus resultados fueron: predominio de gemelos dicigóticos; mayor concordancia tanto para el par como para el caso índice en gemelos monocigóticos; edad promedio de aparición de la enfermedad de 44 años, en el segundo gemelo apareció aproximadamente dos años después. El género femenino predominó en los monocigóticos, en los dicigóticos no hubo diferencias. Prevaleció la piel de color blanco. El antecedente de hipertensión arterial en familiares de primero y segundo grados aportó los mayores valores. El sedentarismo fue el factor de riesgo modificable más significativo para los concordantes; el tabaquismo y el inadecuado consumo de frutas y vegetales resultaron para los discordantes. Se evidenció el componente genético de la hipertensión arterial.

Medical genetics in Cuba evolved with studies of national character and with the formation of masters in Genetic Counseling, promoting a change in adults’ health. Arterial hypertension is a clinical sign, a disease and a risk fact. It is among the non-transmissible diseases affecting adult population of the world, of Cuba, of the province of Matanzas and of the municipality of Colón, with increases in morbidity and mortality. That is why we carried out a transversal analytical study on arterial hypertension in twins, in Colon, from February 3rd to May 10th 2007. The results were: predominance of dizygotic twins; a bigger concordance as for the pair as for the case of the index in monozygotic twins; 44 years as average age of disease beginning; in the case of the second twin the disease began two years later. Among monozygotic twins, there was prevalence of the female sex, and among the dizygotic ones, there were not differences. There were a larger proportion of white persons. The antecedent of arterial hypertension in first and second grade relatives showed the greatest values. The most significant modifiable risk fact was lack of exercises for concordants; smoking and the inadequate consume of fruits and vegetables was the most significant for discordants. It was evident the genetic component of the arterial hypertension.

Percepção estética das manchas de fluorose dentária: relato de caso de gêmeas dizigóticas / Aesthetic perception of dental fluorosis: a case report of dizygotic twins

Objetivo: O objetivo deste trabalho foi apresentar o caso clínico de duas irmãs gêmeas dizigóticas de 8 anos de idade, com fluorose dentária em graus diferentes, avaliar as fontes de flúor a que elas tiveram acesso e analisar a percepção estética das manchas de fluorose. Descrição do caso: O exame clínico foi feito na residência das pacientes, no período diurno, sob luz artificial, utilizando-se o Índice Thylstrup & Fejerskov (ITF). Foi diagnosticado o grau 2 em uma das irmãs (P(1)) e o grau 4 na outra (P(2)) em incisivos centrais superiores. De acordo com o relato da mãe, P(2) ingeriu mais flúor através da escovação com dentifrícios fluoretados que sua irmã P(1) até os três anos de idade. A mãe das crianças percebeu os dentes classificados com grau 4 como esteticamente mais satisfatórios que os dentes classificados com grau 2. Conclusão: O odontopediatra deve ser capaz de realizar um diagnóstico preciso da fluorose dentária e dominar as técnicas de remoção das manchas. Porém, deve-se considerar a percepção individual dos pacientes quanto à estética, seus anseios e suas expectativas com relação a um possível tratamento.

Purpose: The aim of this study was to present a case report of two 8-year-old female patients, dizygotics twins, with different degrees of dental fluorosis, investigate the fluoride sources they were exposed to, and assess the esthetic perception of dental fluorosis. Case description: Clinical examination was performed at home, during day-time, under artificial light, using the Thylstrup & Fejerskov Index (TFI). One twin presented fluorosis degree 2 (P(1)) and her sister presented degree 4 (P(2)) in the central incisors. Their mother reported that P(2) used to swallow more fluoridated dentifrice during tooth brushing than P(1) under the age of 3 year-old. In relation to the esthetic perception of fluorosis, the mother considered that the teeth with degree 4 were more esthetic than the teeth with degree 2. Conclusion: The pediatric dentist should be able to correctly diagnose dental fluorosis and have knowledge on appropriate treatment techniques. However, it is necessary to consider and respect the patients' perception on esthetics and their own desires.