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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.
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Sistema de Registros , Gemelos Dicigóticos , Gemelos Monocigóticos , Humanos , Sistema de Registros/estadística & datos numéricos , Hungría/epidemiología , Femenino , Masculino , Adulto , Gemelos Dicigóticos/genética , Gemelos Dicigóticos/estadística & datos numéricos , Gemelos Monocigóticos/genética , Gemelos Monocigóticos/estadística & datos numéricos , Niño , Persona de Mediana Edad , Adolescente , Preescolar , Anciano , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Adulto Joven , LactanteRESUMEN
Introduction: Postoperative seroma and pain are common problems following laparoscopic intraperitoneal onlay mesh (IPOM) repair of ventral hernias. These adverse outcomes may be avoided by dissecting and using the peritoneum in the hernial sac to bridge the hernia defect. Methods: This was a patient- and outcome assessor-blinded, parallel-design, randomized controlled trial comparing nonclosure and peritoneal bridging approaches in patients scheduled for elective midline ventral hernia repair. The primary endpoint was seroma volume on ultrasonography. The secondary endpoints were postoperative pain, recurrence, and complications. Results: Between November 2018 and December 2020, 112 patients were randomized, of whom 60 were in the nonclosure group and 52 were in the peritoneal bridging group. The seroma volume in the nonclosure and peritoneal bridging groups were 17 cm3 (6-53 cm3) versus 0 cm3 (0-26 cm3) at 1-month follow-up (P = 0.013). The median volume was zero at the 3-, 6-, and 12-month follow-ups in both groups. No significant differences were observed in early postoperative pain (P = 0.447) and in recurrence rate (P = 0.684). There were 4 (7%) and 1 (2%) perioperative complications that lead to reoperations in simple IPOM (sIPOM) and IPOM with peritoneal bridging (IPOM-pb), respectively. Conclusions: Seroma was less prevalent after IPOM-pb at 1-month follow-up compared with sIPOM, with similar postoperative pain 1 week after index surgery in both groups. At subsequent follow-ups, the differences in seroma were not statistically significant. Further studies are required to confirm these results. Trial registration (NCT04229940).
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Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine the heritability of six subcortical brain volumes (the amygdala, caudate nucleus, pallidum, putamen, thalamus, and nucleus accumbens) and four general brain volumes (the total intra-cranial volume and the grey matter, white matter, and cerebrospinal fluid (CSF) volume) in twins. Materials and Methods: A total of 118 healthy adult twins from the Hungarian Twin Registry (86 monozygotic and 32 dizygotic; median age 50 ± 27 years) underwent brain magnetic resonance imaging. Two automated volumetry pipelines, Computational Anatomy Toolbox 12 (CAT12) and volBrain, were used to calculate the subcortical and general brain volumes from three-dimensional T1-weighted images. Age- and sex-adjusted monozygotic and dizygotic intra-pair correlations were calculated, and the univariate ACE model was applied. Pearson's correlation test was used to compare the results obtained by the two pipelines. Results: The age- and sex-adjusted heritability estimates, using CAT12 for the amygdala, caudate nucleus, pallidum, putamen, and nucleus accumbens, were between 0.75 and 0.95. The thalamus volume was more strongly influenced by common environmental factors (C = 0.45-0.73). The heritability estimates, using volBrain, were between 0.69 and 0.92 for the nucleus accumbens, pallidum, putamen, right amygdala, and caudate nucleus. The left amygdala and thalamus were more strongly influenced by common environmental factors (C = 0.72-0.85). A strong correlation between CAT12 and volBrain (r = 0.74-0.94) was obtained for all volumes. Conclusions: The majority of examined subcortical volumes appeared to be strongly heritable. The thalamus was more strongly influenced by common environmental factors when investigated with both segmentation methods. Our results underline the importance of identifying the relevant genes responsible for variations in the subcortical structure volume and associated diseases.
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Encéfalo , Sustancia Gris , Adulto , Anciano , Humanos , Persona de Mediana Edad , Adulto Joven , Encéfalo/diagnóstico por imagen , Encéfalo/anatomía & histología , Sustancia Gris/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Gemelos/genéticaRESUMEN
Introduction: White matter hyperintensities (WMH) indicate white matter brain lesions in magnetic resonance imaging (MRI), which can be used as a marker for brain aging and cerebrovascular and neurodegenerative disorders. Twin studies revealed substantial but not uniform WMH heritability in elderly twins. The objective of our study was to investigate the genetic and environmental components of WMH, as well as their importance in a healthy twin population, utilizing 3T MRI scanners in a middle-aged twin population. Methods: Brain MRI was performed on 120 healthy adult twins from the Hungarian Twin Registry on a 3T scanner (86 monozygotic, MZ and 34 dizygotic, DZ twins; median age 50 ± 26.5 years, 72.5% female and 27.5% male). The count of WMH on FLAIR images was calculated using an automated volumetry pipeline (volBrain) and human processing. The age- and sex-adjusted MZ and DZ intra-pair correlations were determined and the total variance was decomposed into genetic, shared and unique environmental components using structural equation modeling. Results: Age and sex-adjusted MZ intrapair correlations were higher than DZ correlations, indicating moderate genetic influence in each lesion (rMZ = 0.466, rDZ = -0.025 for total count; rMZ = 0.482, rDZ = 0.093 for deep white matter count; rMZ = 0.739, rDZ = 0.39 for infratentorial count; rMZ = 0.573, rDZ = 0.372 for cerebellar count and rMZ = 0.473, rDZ = 0.19 for periventricular count), indicating a moderate heritability (A = 40.3%, A = 45%, A = 72.7% and A = 55.5%and 47.2%, respectively). The rest of the variance was influenced by unique environmental effects (E between 27.3% and 59.7%, respectively). Conclusions: The number of WMH lesions is moderately influenced by genetic effects, particularly in the infratentorial region in middle-aged twins. These results suggest that the distribution of WMH in various brain regions is heterogeneous.
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Gemelos Monocigóticos , Sustancia Blanca , Anciano , Adulto , Persona de Mediana Edad , Humanos , Masculino , Femenino , Adulto Joven , Gemelos Monocigóticos/genética , Sustancia Blanca/diagnóstico por imagen , Gemelos Dicigóticos/genética , Envejecimiento/patología , Encéfalo/diagnóstico por imagenRESUMEN
AIM: To investigate whether vertebrobasilar geometry contributes to the presence, severity, and laterality of white matter hyperintensities (WMH). METHODS: We retrospectively reviewed 290 cerebral scans of patients who underwent time-of-flight and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) between 2017 and 2018. WMH were counted, localized, and grouped according to laterality on the FLAIR sequence. A 3D mesh of the posterior circulation was reconstructed (with ITK SNAP software) and the morphology of the vertebrobasilar system analyzed with an in-house software written in Python. RESULTS: Patients were assigned into a group with WMH (n=204) and a group without WMH (n=86). The severity of WMH burden was mainly affected by age and hypertension, while the localization of the WMH (or laterality) was mainly affected by the vertebrobasilar system morphology. Basilar artery morphology only affected the parieto-occipital region significantly if both posterior communicating arteries were hypoplastic or absent. The dominant vertebral artery and basilar artery curve had an opposite directional relationship. CONCLUSIONS: An unequal vertebral artery flow is an important hemodynamic contributor to basilar bending. Increased basilar artery curvature and increased infratentorial WMH burden may signal inadequate blood flow and predict cerebrovascular events.
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Arteria Basilar , Sustancia Blanca , Arteria Basilar/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Estudios Retrospectivos , Arteria Vertebral/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagenRESUMEN
Previous studies suggested cervical spondylosis as a risk factor for development of obstructive sleep apnoea (OSA). We aimed to assess lumbar disc degeneration in patients with OSA and correlate the findings with symptoms and disease severity. Twenty-seven patients with OSA and 29 non-OSA controls underwent sleep studies and lumbar magnetic resonance imaging (MRI), and completed the Epworth Sleepiness Scale and the 24-item Roland-Morris Disability Questionnaire (RMDQ) questionnaires. Plasma klotho was determined with enzyme-linked immunosorbent assay. Patients with OSA had higher number of disc bulges (4.6 ± 3.7 vs. 1.7 ± 2.5, p < 0.01) and anterior spondylophytes (2.7 ± 4.2 vs. 0.8 ± 2.1, p < 0.01), increased disc degeneration (total Pfirrmann score 16.7 ± 4.7 vs. 13.2 ± 4.1, p < 0.01) and vertebral fatty degeneration (7.8 ± 4.7 vs. 3.8 ± 3.7, p < 0.01). There was no difference in the RMDQ score (0/0-3.5/ vs. 0/0-1/, p > 0.05). Markers of OSA severity, including the oxygen desaturation index and percentage of total sleep time spent with saturation < 90% as well as plasma levels of klotho were correlated with the number of disc bulges and anterior spondylophytes (all p < 0.05). OSA is associated with lumbar spondylosis. Our study highlights the importance of lumbar imaging in patients with OSA reporting lower back pain.
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Vértebras Lumbares/patología , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/complicaciones , Enfermedades de la Columna Vertebral/patología , Factores de Edad , Anciano , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Factores de Riesgo , Enfermedades de la Columna Vertebral/etiología , Encuestas y CuestionariosRESUMEN
Background and Objectives: Aortic arch calcification (AoAC) is associated with a variety of cardiovascular complications. The measurement and grading of AoAC using posteroanterior (PA) chest X-rays are well established. The cardiothoracic ratio (CTR) can be simultaneously measured with PA chest X-rays and used as an index of cardiomegaly. The genetic and environmental contributions to the degree of the AoAC and CTR are not well understood. The purpose of this study was to investigate the effect of genetics and environmental factors on the AoAC and CTR. Materials and Methods: A total of 684 twins from the South Korean twin registry (261 monozygotic, MZ and 81 dizygotic, DZ pairs; mean age 38.6 ± 7.9 years, male/female = 264/420) underwent PA chest X-rays. Cardiovascular risk factors and anthropometric data were also collected. The AoAC and CTR were measured and graded using a standardized method. A structural equation method was used to calculate the proportion of variance explained by genetic and environmental factors behind AoAC and CTR. Results: The within-pair differences were low regarding the grade of AoAC, with only a few twin pairs showing large intra-pair differences. We found that the thoracic width showed high heritability (0.67, 95% CI: 0.59-0.73, p = 1). Moderate heritability was detected regarding cardiac width (0.54, 95% CI: 0.45-0.62, p = 0.572) and CTR (0.54, 95% CI: 0.44-0.62, p = 0.701). Conclusions: The heritable component was significant regarding thoracic width, cardiac width, and the CTR.
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Aorta Torácica , Gemelos , Adulto , Antropometría , Aorta Torácica/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sistema de Registros , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND AND OBJECTIVES: Multivessel atherosclerosis and its genetic background are under-investigated, although atherosclerosis is seldom local and still causes high mortality. Alternative methods to assess coronary calcification (CAC) might incorporate genetic links between different arteries' atherosclerotic involvement, however, co-occurrences of coronary calcification have not been investigated in twins yet. MATERIALS AND METHODS: We assessed the heritability of radio morphologically distinct atherosclerotic plaque types in coronary (non-enhanced CT, Agatston score), carotid, and femoral arteries (B-mode ultrasound) in 190 twin subjects (60 monozygotic, 35 dizygotic pairs). Four-segment scores were derived in order to assess the dissemination of the distinct plaque types in the carotid and femoral arteries taking bilaterality into account. We calculated the genetic correlation between phenotypically correlating plaque types in these arteries. RESULTS: CAC and dissemination of calcified plaques in the carotid and femoral arteries (4S_hyper) were moderately heritable (0.67 [95% CI: 0.37-1] and 0.69 [95% CI: 0.38-1], respectively) when adjusted for age and sex. Hypoechoic plaques in the carotid and femoral arteries showed no heritability, while mixed plaques showed intermediate heritability (0.50 [95% CI: 0-0.76]). Age and sex-adjusted phenotypic correlation between CAC and 4segm_hyper was 0.48 [95% CI: 0.30-0.63] and the underlying genetic correlation was 0.86 [95% CI: 0.42-1]. CONCLUSIONS: Calcification of atherosclerotic plaques is moderately heritable in all investigated arteries and significant overlapping genetic factors can be attributed to the phenotypical resemblance of coronary and carotid or femoral atherosclerotic calcification. Our findings support the idea of screening extracoronary arteries in asymptomatic individuals. We also propose a hypothesis about primarily carotid-coronary and femoral-coronary atherosclerosis as two distinct genetic predispositions to co-localization.
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Aterosclerosis , Enfermedades de las Arterias Carótidas , Enfermedad de la Arteria Coronaria , Aterosclerosis/diagnóstico por imagen , Aterosclerosis/genética , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/genética , Vasos Coronarios , Arteria Femoral/diagnóstico por imagen , Antecedentes Genéticos , Humanos , Factores de RiesgoRESUMEN
Background and Objectives: The asymmetrical vertebral artery (VA) flow and diameter are common findings, which can result in an asymmetrical blood flow in the basilar artery (BA), leading to bending of the artery over time. This study investigated whether the variation of the different vertebrobasilar morphological indices that influence flow characteristics might be inherited. Materials and Methods: We analyzed 200 cerebral magnetic resonance imaging (MRI) scans of healthy Caucasian twins (100 pairs) who underwent time-of-flight MRI. From the scans, we reconstructed the 3D mesh of the posterior circulation from the start of the V4 segment to the basilar tip and subsequently analyzed the morphology of the vertebrobasilar system. The phenotypic covariances of the different morphological parameters were decomposed into heritability (A), shared (C), and unshared (E) environmental effects. Results: 39% of the twins had left dominant VA, while 32.5% had right dominant. In addition, 28.5% were classified as equal. The vertebral artery V4 segment diameter, curvature, and tortuosity were mainly influenced by shared (C) and unshared (E) environmental factors. A moderate heritability was found for the BA length (A: 63%; 95% CI: 45.7-75.2%; E: 37%; 95% CI: 24.8-54.3%) and volume (A: 60.1%; 95% CI: 42.4-73.2%; E: 39.9%; 95% CI: 26.8-57.6%), while the torsion of both arteries showed no heritability and were only influenced by the unshared environment. Conclusions: The length and volume of the BA show a moderate genetical influence. However, most of the measured morphological indices were influenced by shared and unshared factors, which highlight the role of the ever-changing hemodynamic influences shaping the geometry of the vertebrobasilar system.
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Arteria Basilar , Arteria Vertebral , Arteria Basilar/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Gemelos , Arteria Vertebral/diagnóstico por imagenRESUMEN
Obstructive sleep apnea is associated with an increased risk of hypertension, diabetes and dyslipidaemia. Both obstructive sleep apnea and its comorbidities are at least partly heritable, suggesting a common genetic background. Our aim was to analyse the heritability of the relationship between obstructive sleep apnea and its comorbidities using a twin study. Forty-seven monozygotic and 22 dizygotic adult twin pairs recruited from the Hungarian Twin Registry (mean age 51 ± 15 years) attended an overnight diagnostic sleep study. A medical history was taken, blood pressure was measured, and blood samples were taken for fasting glucose, total cholesterol, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol and lipoprotein (a). To evaluate the heritability of obstructive sleep apnea and its comorbidities bivariate analysis was performed with an adjustment for age, gender, body mass index (BMI) and smoking after false discovery rate correction and following exclusion of patients on lipid-lowering and antidiabetic medications. There was a significant correlation between indices of obstructive sleep apnea severity, such as the apnea-hypopnea index, oxygen desaturation index and percentage of sleep time spent with oxygen saturation below 90%, as well as blood pressure, serum triglyceride, lipoprotein (a) and glucose levels (all p < .05). The bivariate analysis revealed a common genetic background for the correlations between serum triglyceride and the oxygen desaturation index (r = .63, p = .03), as well as percentage of sleep time spent with oxygen saturation below 90% (r = .58, p = .03). None of the other correlations were significantly genetically or environmentally determined. This twin study demonstrates that the co-occurrence of obstructive sleep apnea with hypertriglyceridaemia has a genetic influence and heritable factors play an important role in the pathogenesis of dyslipidaemia in obstructive sleep apnea.
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Hipertrigliceridemia/complicaciones , Polisomnografía/métodos , Apnea Obstructiva del Sueño/fisiopatología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , GemelosRESUMEN
BACKGROUND: Obstructive sleep apnoea (OSA) is one of the major sources of the excessive daily sleepiness, cognitive dysfunction, and it increases cardiovascular morbidity and mortality. Previous studies suggested a possible genetic influence, based on questionnaires but no objective genetic study was conducted to understand the exact variance underpinned by genetic factors. METHODS: Seventy-one Hungarian twin pairs involved from the Hungarian Twin Registry (48 monozygotic, MZ and 23 dizygotic, DZ pairs, mean age 51 ± 15 years) underwent overnight polysomnography (Somnoscreen Plus Tele PSG, Somnomedics GMBH, Germany). Apnoea hypopnea index (AHI), respiratory disturbance index (RDI) and oxygen desaturation index (ODI) were registered. Daytime sleepiness was measured with the Epworth Sleepiness Scale (ESS). Bivariate heritability analysis was applied. RESULTS: The prevalence of OSA was 41% in our study population. The heritability of the AHI, ODI and RDI ranged between 69% and 83%, while the OSA, defined by an AHI ≥5/h, was itself 73% heritable. The unshared environmental component explained the rest of the variance between 17% and 31%. Daytime sleepiness was mostly determined by the environment, and the variance was influenced in 34% by the additive genetic factors. These associations were present after additional adjustment for body mass index. CONCLUSION: OSA and the indices of OSA severity are heritable, while daytime sleepiness is mostly influenced by environmental factors. Further studies should elucidate whether close relatives of patients with OSA may benefit from early family risk based screening.
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Enfermedades en Gemelos/genética , Trastornos de Somnolencia Excesiva/genética , Predisposición Genética a la Enfermedad/genética , Apnea Obstructiva del Sueño/genética , Somnolencia , Adulto , Anciano , Enfermedades en Gemelos/diagnóstico , Enfermedades en Gemelos/epidemiología , Trastornos de Somnolencia Excesiva/diagnóstico , Trastornos de Somnolencia Excesiva/epidemiología , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Humanos , Hungría/epidemiología , Masculino , Persona de Mediana Edad , Polisomnografía/métodos , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiologíaRESUMEN
Obstructive sleep apnea (OSA) is associated with an increased risk of cardiovascular disease. Previous studies have assessed the relationship between OSA and coronary artery disease (CAD) using coronary artery calcium score (CAC) measurements. However, limited data are available regarding the association of OSA with non-calcified plaque burden. We therefore aimed to assess the relationship between CAD severity as assessed by coronary computed tomography angiography (CTA) and OSA. Forty-one adult subjects (59 ± 9 years, 15 men) underwent a 256-slice coronary CTA, which was followed by a diagnostic attended cardiorespiratory polygraphy (n = 13) or polysomnography (n = 28). Segment involvement score (SIS), segment stenosis score (SSS) and CAC were used to quantify total CAD burden. Correlation analysis was used to assess potential associations between CAD and OSA. Twenty-two patients were diagnosed with OSA. SIS and SSS were elevated in OSA (2.90 ± 2.78 versus 1.79 ± 2.39 and 4.91 ± 5.94 versus 1.79 ± 4.54, OSA versus controls, SIS and SSS respectively, both p < 0.01) and correlated with OSA severity as measured by the apnea-hypopnea index (AHI, r = 0.41 and 0.43, p < 0.01) and oxygen desaturation index (ODI, r = 0.45 and 0.46, p < 0.01). However, no significant correlation was observed between CAC and OSA. Compared to CAC, SIS and SSS provide additional information on coronary plaque burden in OSA, which shows a significant association with OSA.
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Placa Aterosclerótica/diagnóstico , Polisomnografía/métodos , Apnea Obstructiva del Sueño/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Placa Aterosclerótica/etiología , Placa Aterosclerótica/patología , Apnea Obstructiva del Sueño/diagnósticoRESUMEN
Since our last report on the voluntary Hungarian Twin Registry (HTR) in 2012, the number of pairs or multiplets included increased from 310 to 1044. Efforts to turn the registry into a population-based one are on the way. Nearly 128,000 twins living in Hungary (98,500 adults) will be mailed information on how to register on the new HTR website. Twins will be asked to invite their spouses and immediate family members. Meanwhile, strong cooperation through exchange programs has been developed with other foreign twin registries. Current research focuses on radiogenomics, musculoskeletal, cardiovascular and respiratory diseases, gut microbiome as well as basic molecular research and yielded new awards and further publications.
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Recolección de Datos/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Proyectos de Investigación/normas , Gemelos/genética , Manejo de Datos , Humanos , Hungría/epidemiología , Estudios Longitudinales , Encuestas y CuestionariosRESUMEN
BACKGROUND: Anatomic variants of the circle of Willis (CW) are commonly observed in healthy subjects. Genetic and environmental factors influencing these variants remain unclear. Our aim was to assess the genetic and environmental background affecting variant CW phenotypes. METHODS: A total of 122 adult healthy twins from the Hungarian Twin Registry (39 monozygotic (MZ) and 22 dizygotic (DZ) pairs, average age 49.7 ± 13.4 years) underwent Time-of-Flight magnetic resonance angiography and transcranial Doppler sonography. We investigated the anterior and posterior CW according to morphological categories. Prevalence and concordance rates of CW variants were calculated. MZ twins discordant for CW variants were analyzed for cardiovascular risk factors and altered blood flow. RESULTS: Complete CW (45.0%) and bilaterally absent posterior communicating artery (PCoA) (22.5%) were the most prevalent variants in the anterior and posterior CW, respectively. There was no significant difference regarding the prevalence of variants across zygosity except for bilaterally hypoplastic PCoA (p = .02). DZ concordance was higher compared to MZ twins regarding morphological categories of the CW. Cardiovascular risk factors were not significantly associated with variant CW in MZ twins discordant to CW morphology. Flow parameters did not differ significantly among MZ twins discordant to CW variants. CONCLUSION: CW variants may not be determined by substantial genetic effects and are not influenced by altered blood flow in healthy individuals. Further investigations are needed to identify potential environmental factors affecting these variants.
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Círculo Arterial Cerebral/anatomía & histología , Enfermedades en Gemelos/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Anciano , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/fisiopatología , Círculo Arterial Cerebral/diagnóstico por imagen , Círculo Arterial Cerebral/fisiología , Femenino , Interacción Gen-Ambiente , Humanos , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Flujo Sanguíneo Regional/genética , Factores de Riesgo , Estudios en Gemelos como AsuntoRESUMEN
Carotid atherosclerosis (CAS) is associated with increased cardiovascular risk, and therefore, assessing the genetic versus environmental background of CAS traits is of key importance. Carotid intima-media-thickness and plaque characteristics seem to be moderately heritable, with remarkable differences in both heritability and presence or severity of these traits among ethnicities. Although the considerable role of additive genetic effects is obvious, based on the results so far, there is an important emphasis on non-shared environmental factors as well. We aimed to collect and summarize the papers that investigate twin and family studies assessing the phenotypic variance attributable to genetic associations with CAS. Genes in relation to CAS markers were overviewed with a focus on genetic association studies and genome-wide association studies. Although the role of certain genes is confirmed by studies conducted on large populations and meta-analyses, many of them show conflicting results. A great focus should be on future studies elucidating the exact pathomechanism of these genes in CAS in order to imply them as novel therapeutic targets.
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Arterias Carótidas/fisiopatología , Enfermedades de las Arterias Carótidas/genética , Predisposición Genética a la Enfermedad , Estudios en Gemelos como Asunto , Enfermedades de las Arterias Carótidas/fisiopatología , Grosor Intima-Media Carotídeo , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Factores de RiesgoRESUMEN
Morphological and hemodynamic variations of the circle of Willis (CW) may have an important impact on cerebrovascular events. However, the environmental and genetic influence remains unclear. For this reason we studied the variations and hemodynamic parameters of the CW in twins using transcranial color-coded sonography (TCCS). Sixty-four twins, 19 monozygotic (MZ) and 13 dizygotic (DZ) pairs from the Italian Twin Registry (average age 45.0 ± 13.7 years) underwent TCCS and risk factor assessment. We examined CW morphology and recorded peak systolic velocity (PSV), end-diastolic velocity (EDV) and pulsatility index (PI). Raw heritability was determined for hemodynamic parameters, whereas concordance and discordance rates were calculated for CW morphological variants. A normal CW anatomy was observed in the majority of MZ and DZ twins (76.5% and 92.3%, respectively). The most frequent variant was a missing anterior cerebral artery (ACA). There was no significant difference in the prevalence of most CW variants depending on the zigosity. Concordance rates were low regarding the presence of variant CW anatomy both in MZ and DZ groups (0.14 and 0.00, respectively). Women had a significantly higher PI in vertebral arteries (VA) and in the right ACA (p = 0.01, p = 0.02 and p < 0.01, respectively). An inverse correlation was observed between hemodynamic parameters and age. Morphological variants of the CW do not seem to be heritable; they are most likely determined by environmental factors. In contrast, hemodynamic parameters of the CW are moderately heritable and this might have implications in the management and prevention of cerebrovascular diseases.
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Circulación Cerebrovascular/fisiología , Círculo Arterial Cerebral/diagnóstico por imagen , Círculo Arterial Cerebral/fisiopatología , Adulto , Velocidad del Flujo Sanguíneo/fisiología , Femenino , Hemodinámica , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Sistema de Registros , Medición de Riesgo , Factores de Riesgo , Gemelos , Ultrasonografía Doppler en Color , Ultrasonografía Doppler TranscranealRESUMEN
INTRODUCTION: A new era has begun in the last two decades with the advent of endovascular methods in the therapy of blunt thoracic aorta injuries. Our experiences with the endovascular interventions of blunt aortic trauma in the Cardiovascular Center of Semmelweis University are summarised here. METHODS: We included those patients who underwent endovascular intervention due to blunt aortic trauma in a university hospital between 1998 and 2014. The statistical analysis was performed with the use of Excel. RESULTS: 41 patients were selected from our database. There were 34 males, the average age was 47 years (±17 years). Among the 41 patients 15 underwent an acute procedure (12 ruptures) and 26 patients received delayed treatment (in 4 cases due to growing of the pseudoaneurysm). There was only one early postoperative death. Late mortality was 22.5% and 7.5% was related to the aortic injury. CONCLUSION: Our late mortality and complication rates were similar to other studies, which reinforces international experiences. In the cases when delayed treatment is feasible, the patient can be stabilized and the CTA images can be analyzed for precise stentgraft planning. The treatment of blunt thoracic aorta injured patients should take place in specialized centers capable of such endovascular interventions.
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Aorta Torácica/cirugía , Procedimientos Endovasculares/métodos , Traumatismos Torácicos/cirugía , Heridas no Penetrantes/cirugía , Adulto , Anciano , Aorta Torácica/lesiones , Femenino , Hospitales de Enseñanza , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Traumatismos Torácicos/mortalidad , Centros Traumatológicos/estadística & datos numéricos , Resultado del Tratamiento , Heridas no Penetrantes/mortalidadRESUMEN
PURPOSE: Obstructive sleep apnoea (OSA) is a prevalent disorder, characterised by collapse of the upper airways during sleep. The impact of sleep-disordered breathing on pulmonary function indices is however currently not well described. The aim of the study was to evaluate diurnal change in lung function indices in a cohort of patients with OSA and relate pulmonary function changes to disease severity. METHODS: 42 patients with OSA and 73 healthy control subjects participated in the study. Asthma and COPD were excluded in all volunteers following a clinical and spirometric assessment. Spirometry was then performed in all subjects in the evening and the morning following a polysomnography study. RESULTS: There was no difference in evening or morning FEV1 or FVC between patients and control subjects (p > 0.05). Neither FEV1 nor FVC changed in control subjects overnight (p > 0.05). In contrast, FEV1 significantly increased from evening (2.18/1.54-4.46/L) to morning measurement (2.26/1.42-4.63/L) in OSA without any change in FVC. The FEV1 increase in OSA was related to male gender, obesity and the lack of treatment with statins or ß-blockers (all p < 0.05). A tendency for a direct correlation was apparent between overnight FEV1 change and RDI (p = 0.05, r = 0.30). CONCLUSIONS: Diurnal variations in spirometric indices occur in patients with OSA and FEV1 appears to increase in subjects with OSA overnight. These changes occur in the absence of change in FVC and are directly related to the severity of OSA. These findings dictate a need to consider time of lung function measurement.
Asunto(s)
Obesidad/fisiopatología , Apnea Obstructiva del Sueño/fisiopatología , Antagonistas Adrenérgicos beta/uso terapéutico , Adulto , Anciano , Presión Sanguínea , Estudios de Casos y Controles , Femenino , Volumen Espiratorio Forzado , Frecuencia Cardíaca , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Masculino , Persona de Mediana Edad , Obesidad/complicaciones , Polisomnografía , Índice de Severidad de la Enfermedad , Factores Sexuales , Apnea Obstructiva del Sueño/complicaciones , Factores de Tiempo , Capacidad Vital , Adulto JovenRESUMEN
INTRODUCTION: The open repair (OR) of infrarenal aortic aneurysm (AAA) has low mortality in tertiary care centres, however, endovascular repair (ER) could be more beneficial for some cases. The aim of our study was to compare the mortality and morbidity of the different AAA repair techniques. MATERIAL AND METHODS: In a single centre retrospective study we evaluated the postoperative complications, the early and late mortality of patients underwent open or endovascular AAA repair. RESULTS: Total of 431 patients underwent OR and 59 had ER. Early mortality was below 2% in both groups (statistically non-significant [NS] difference). Postoperative complications were found in 14.4% in the OR group and 11.9% in the ER group (NS). The intraoperative blood loss and use of blood products were higher, the operation time was significantly longer in the OR group (p < 0.001). The average follow-up time was 37 ± 22 months. Long term mortality and the prevalence of stroke and acute myocardial infarction were similar in both groups. 16% of the patients in the OR group developed incisional hernia. Patients after ER needed further vascular intervention more frequently than patients in the OR group (16.2% vs. 6.2%; p = 0.0327). CONCLUSION: The early and late mortality was similar after open and endovascular AAA repair. Postoperative complications did not show significant difference between the two groups. We found significant difference in the use of blood products, the prevalence of incisional hernias and the number of reinterventions. According to our results, stent graft implantation is mainly recommended in high risk patients and open aortic repair still has a role in the low-moderate operative risk group.