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1.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(5): 700-704, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32447910

RESUMO

Objective: To analyze the heritability of coronary heart disease (CHD) among the Chinese twin adults. Methods: A total of 20 477 same-sex twin pairs aged 25 years and older from the Chinese National Twin Registry were interviewed. Structure equation model was used to estimate the heritability of CHD. Results: After adjusting for age and gender, the overall heritability of CHD was 0.75(0.68-0.81). Stratified analyses showed that genetic factors play a more important role in CHD incidence in ≥40 years or female twins. While the development of CHD was mainly influenced by environmental factors in 25-39 years or male twins. Conclusion: CHD is influenced by both genetic and environmental factors and the heritability is high.


Assuntos
Doença das Coronárias , Adulto , Grupo com Ancestrais do Continente Asiático , Doenças em Gêmeos , Feminino , Humanos , Masculino , Sistema de Registros
2.
JAMA ; 323(13): 1319, 2020 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-32259232
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(3): 221-225, 2020 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-32204757

RESUMO

This article reports the diagnosis and treatment of twin girls who were diagnosed with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Hunan Province, China. The twin girls, aged 1 year and 2 months, were admitted on January 29, 2020 due to fever for one day and cough and sneezing for two days respectively. Both recovered after symptomatic treatment. The two girls had mild symptoms and rapid recovery, suggesting that children with SARS-CoV-2 infection may be mild and have a good prognosis. There were differences in the clinical symptoms and imaging findings between the twin girls, suggesting that SARS-CoV-2 infection has diverse clinical features in children.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Pneumonia Viral , Gêmeos , China , Doenças em Gêmeos , Feminino , Humanos , Lactente
4.
Gene ; 738: 144461, 2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32057927

RESUMO

Down syndrome is one of the most common chromosomal disorders and yet our understanding about the dysregulated genes in this disease is limited. Through this case study, we investigated the gene expression profile of primary amniotic fluid mesenchymal stem cells (AFMSCs) isolated from the amniotic sac of monozygotic twins discordant for trisomy 21 with one fetal hydrops at 17 weeks of gestation. AFMSCs were cultured to analyze the gene expression profiles for the human transcriptome array. Gene ontology was used to evaluate dysregulated gene functions. Total 25,799 genes were identified such that 65 were up-regulated (0.25%) and 111 were down-regulated (0.43%) with a log2 fold change trisomy 21/euploidy (log2 [FC]) > 1, p < 0.01). 16 genes were selected and verified by qRT-PCR, which showed compatible result with transcriptome array. At the chromosome level, chromosome 21 was found to carry the highest percentage of up-regulated genes (2.13%, 7/329 genes) with the highest mean log2 [FC] (0.23, p < 10-5), particularly on 21q22.3. There were eight segments with significant mean log2 [FC] on chromosomes 1, 6, 11, and 21 for upregulation, and on chromosomes 16, 17, and 19 for downregulation, indicating a pattern of dysregulated genes clustering in domains along the genome. Gene ontology showed the identified genes associated with extracellular matrix organization (11 genes, p = 5.1 × 10-6) and central nervous system development (8 genes, p = 6.0 × 10-5). Using transcriptome analysis of the AFMSCs of monozygotic twins discordant for trisomy 21, we report the dysregulated genes involved in Down syndrome, their predominance on chromosome 21, and the cluster pattern on the whole genome.


Assuntos
Síndrome de Down/genética , Perfilação da Expressão Gênica/métodos , Análise em Microsséries/métodos , Líquido Amniótico , Transtornos Cromossômicos/genética , Doenças em Gêmeos/genética , Feminino , Ontologia Genética , Genoma , Genótipo , Humanos , Células-Tronco Mesenquimais/fisiologia , Fenótipo , Gravidez , Transcriptoma/genética , Trissomia/genética , Gêmeos Monozigóticos/genética
6.
Medicine (Baltimore) ; 98(51): e18294, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860977

RESUMO

RATIONALE: Intussusception, a common cause of intestinal obstruction in children, typically requires medical reduction. Here, we describe the case of a pair of twins who had simultaneous intussusception and were positive for fecal adenovirus-strongly indicating that adenovirus infection may be a main cause of the intussusception. PATIENT CONCERNS: Two 1-year-old twin girls were brought to Cathay General Hospital one after another on the same day. Both presented with intermittent abdominal pain, abdominal distension, diarrhea, and loss of appetite. DIAGNOSES: Their laboratory data were adenovirus positivity in rectal swab culture. Intussusception was diagnosed through a lower gastrointestinal series. INTERVENTIONS: The twins were treated with reduction for intussusception. OUTCOMES: Both patients recovered well, without recurrence. LESSONS: Most cases of intussusception are idiopathic. However, some potential risk factors-as strongly suggested by the current cases-are genetic factors and adenovirus infection.


Assuntos
Infecções por Adenovirus Humanos/complicações , Doenças em Gêmeos/virologia , Doenças do Íleo/etiologia , Intussuscepção/etiologia , Feminino , Humanos , Doenças do Íleo/diagnóstico por imagem , Doenças do Íleo/virologia , Lactente , Intussuscepção/diagnóstico por imagem , Intussuscepção/virologia , Radiografia Abdominal , Gêmeos Monozigóticos
7.
PLoS One ; 14(12): e0227091, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31887128

RESUMO

'Asthma' is a complex disease that encapsulates a heterogeneous group of phenotypes and endotypes. Research to understand these phenotypes has previously been based on longitudinal wheeze patterns or hypothesis-driven observational criteria. The aim of this study was to use data-driven machine learning to identify asthma and wheeze phenotypes in children based on symptom and symptom history data, and, to further characterize these phenotypes. The study population included an asthma-rich population of twins in Sweden aged 9-15 years (n = 752). Latent class analysis using current and historical clinical symptom data generated asthma and wheeze phenotypes. Characterization was then performed with regression analyses using diagnostic data: lung function and immunological biomarkers, parent-reported medication use and risk-factors. The latent class analysis identified four asthma/wheeze phenotypes: early transient wheeze (15%); current wheeze/asthma (5%); mild asthma (9%), moderate asthma (10%) and a healthy phenotype (61%). All wheeze and asthma phenotypes were associated with reduced lung function and risk of hayfever compared to healthy. Children with mild and moderate asthma phenotypes were also more likely to have eczema, allergic sensitization and a family history of asthma. Furthermore, those with moderate asthma phenotype had a higher eosinophil concentration (ß 0.21, 95%CI 0.12, 0.30) compared to healthy and used short-term relievers at a higher rate than children with mild asthma phenotype (RR 2.4, 95%CI 1.2-4.9). In conclusion, using a data driven approach we identified four wheeze/asthma phenotypes which were validated with further characterization as unique from one another and which can be adapted for use by the clinician or researcher.


Assuntos
Asma/diagnóstico , Análise de Dados , Doenças em Gêmeos/diagnóstico , Eosinófilos/imunologia , Aprendizado de Máquina , Adolescente , Asma/epidemiologia , Asma/imunologia , Asma/fisiopatologia , Biomarcadores/análise , Criança , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/imunologia , Doenças em Gêmeos/fisiopatologia , Feminino , Humanos , Contagem de Leucócitos , Masculino , Anamnese/estatística & dados numéricos , Análise de Regressão , Sons Respiratórios/fisiopatologia , Fatores de Risco , Índice de Gravidade de Doença , Suécia/epidemiologia , Gêmeos/estatística & dados numéricos
8.
Molecules ; 25(1)2019 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-31861585

RESUMO

We evaluated the in silico expression and circulating levels of interleukin (IL)37 in patients with different forms of multiple sclerosis (MS) and also upon treatment with different disease-modifying drugs. The combined interpretation of the resulting data strengthens and extends the current emerging concept that endogenous IL37 plays an important role in determining onset and progression of MS. The in silico analysis revealed that production of IL37 from cluster of differentiation (CD)4+ T cells from MS patients was reduced in vitro as compared to healthy controls. The analysis of the datasets also demonstrated that "higher" levels of IL37 production from PBMC entailed significant protection from MS relapses. In addition, the in vivo part of the study showed that IL37 was selectively augmented in the sera of MS patients during a relapse and that treatment with the high potency disease-modifying drug fingolimod significantly increased the frequency of patients with circulating blood levels of IL37 (6/9, 66%) as compared to patients receiving no treatment (n = 48) or platform therapy (n = 59) who had levels of IL37 below the limit of the sensitivity of the assay. This finding therefore anticipates that fingolimod may at least partially exert its beneficial effects in MS by upregulating the production of IL37.


Assuntos
Cloridrato de Fingolimode/uso terapêutico , Interleucina-1/sangue , Interleucina-1/genética , Esclerose Múltipla/tratamento farmacológico , Adulto , Linfócitos T CD4-Positivos/imunologia , Estudos de Casos e Controles , Simulação por Computador , Progressão da Doença , Doenças em Gêmeos/tratamento farmacológico , Doenças em Gêmeos/genética , Doenças em Gêmeos/imunologia , Feminino , Cloridrato de Fingolimode/farmacologia , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/genética , Esclerose Múltipla/imunologia , Recidiva , Gêmeos Monozigóticos/genética , Regulação para Cima
9.
Nat Commun ; 10(1): 3933, 2019 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-31477693

RESUMO

It has remained unclear why schizophrenia typically manifests after adolescence and which neurobiological mechanisms are underlying the cascade leading to the actual onset of the illness. Here we show that the use of induced pluripotent stem cell-derived neurons of monozygotic twins from pairs discordant for schizophrenia enhances disease-specific signal by minimizing genetic heterogeneity. In proteomic and pathway analyses, clinical illness is associated especially with altered glycosaminoglycan, GABAergic synapse, sialylation, and purine metabolism pathways. Although only 12% of all 19,462 genes are expressed differentially between healthy males and females, up to 61% of the illness-related genes are sex specific. These results on sex-specific genes are replicated in another dataset. This implies that the pathophysiology differs between males and females, and may explain why symptoms appear after adolescence when the expression of many sex-specific genes change, and suggests the need for sex-specific treatments.


Assuntos
Perfilação da Expressão Gênica/métodos , Proteoma/genética , Proteômica/métodos , Esquizofrenia/genética , Adolescente , Antipsicóticos/uso terapêutico , Clozapina/uso terapêutico , Doenças em Gêmeos/genética , Doenças em Gêmeos/metabolismo , Feminino , Humanos , Masculino , Neurônios/citologia , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Células-Tronco Pluripotentes/citologia , Células-Tronco Pluripotentes/metabolismo , Proteoma/metabolismo , Esquizofrenia/tratamento farmacológico , Esquizofrenia/metabolismo , Fatores Sexuais , Gêmeos Monozigóticos/genética
10.
Twin Res Hum Genet ; 22(4): 201-209, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31498057

RESUMO

Twin registries have developed as a valuable resource for the study of many aspects of disease and society over the years in many different countries. A number of these registries include large numbers of twins with data collected at varying information levels for twin cohorts over the past several decades. More recent expansion of twin datasets has allowed for the collection of genetic data, together with many other levels of 'omic' information along with multiple demographic, physiological, health outcomes and other measures typically used in epidemiologic research. Other twin data sources outside these registries reflect research interests in particular aspects of disease or specific phenotypic assessment. Twin registries have the potential to play a key role in many aspects of the artificial intelligence/machine learning-driven projects of the future and will continue to keep adapting to the changing research landscape.


Assuntos
Doenças em Gêmeos/genética , Sistema de Registros , Gêmeos/genética , Doenças em Gêmeos/epidemiologia , Feminino , Humanos , Masculino
11.
Twin Res Hum Genet ; 22(4): 233-239, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31498059

RESUMO

The Wisconsin Twin Project comprises multiple longitudinal studies that span infancy to early adulthood. We summarize recent papers that show how twin designs with deep phenotyping, including biological measures, can inform questions about phenotypic structure, etiology, comorbidity, heterogeneity, and gene-environment interplay of temperamental constructs and mental and physical health conditions of children and adolescents. The general framework for investigations begins with rich characterization of early temperament and follows with study of experiences and exposures across childhood and adolescence. Many studies incorporate neuroimaging and hormone assays.


Assuntos
Sintomas Afetivos/genética , Doenças em Gêmeos/genética , Transtornos do Humor/genética , Gêmeos/genética , Adolescente , Adulto , Sintomas Afetivos/fisiopatologia , Sintomas Afetivos/psicologia , Criança , Doenças em Gêmeos/epidemiologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Transtornos do Humor/fisiopatologia , Transtornos do Humor/psicologia , Neurociências/tendências , Fenótipo , Psicologia do Desenvolvimento/tendências , Psicopatologia/tendências , Temperamento/fisiologia , Wisconsin
13.
J Abnorm Psychol ; 128(7): 658-670, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31535887

RESUMO

Familial resemblance in eating pathology is typically attributed to parents providing an environment that leads to the development of eating pathology. However, offspring raised by biological parents receive both their environment and genes from their parents, raising the possibility that genetic influences, environmental influences, and/or gene-environment interplay may account for familial resemblance. Past studies have not explored the possibility of parents' genes influencing the environment they provide (i.e., passive gene-environment correlations or "passive rGE"). If present, passive rGE is most likely to "hide" in estimates of shared environmental influence in classical twin models. The current study used a nuclear twin family design to explore the possibility of passive rGE during pre- and early puberty when past studies have demonstrated the importance of shared environmental influence. Additionally, the present study explored whether sibling-specific (i.e., influences specific to the twin generation) or family-specific (i.e., "cultural" influences within the home) environmental influences account for shared environmental influences found in past studies. Participants included preearly pubertal same-sex female twins and their biological parents (N = 547 families) from the Minnesota Twin Family Study and the Michigan State University Twin Registry. Disordered eating was assessed with self-report measures in the twins and parents. Pubertal status was determined using an established cut-off on a self-report measure. Passive rGE was not indicated in this study of pre- and early pubertal twins. Instead, sibling-specific shared environmental and nonshared environmental influences were most influential. Future research should work to identify the sibling-specific environmental influences that contribute to sibling similarity in disordered eating. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/genética , Interação Gene-Ambiente , Pais , Puberdade/psicologia , Gêmeos/genética , Criança , Doenças em Gêmeos/genética , Doenças em Gêmeos/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Feminino , Humanos , Masculino , Sistema de Registros , Autorrelato , Gêmeos/psicologia
14.
Twin Res Hum Genet ; 22(4): 210-219, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31379313

RESUMO

Twin registries often take part in large collaborative projects and are major contributors to genome-wide association (GWA) meta-analysis studies. In this article, we describe genotyping of twin-family populations from Australia, the Midwestern USA (Avera Twin Register), the Netherlands (Netherlands Twin Register), as well as a sample of mothers of twins from Nigeria to assess the extent, if any, of genetic differences between them. Genotyping in all cohorts was done using a custom-designed Illumina Global Screening Array (GSA), optimized to improve imputation quality for population-specific GWA studies. We investigated the degree of genetic similarity between the populations using several measures of population variation with genotype data generated from the GSA. Visualization of principal component analysis (PCA) revealed that the Australian, Dutch and Midwestern American populations exhibit negligible interpopulation stratification when compared to each other, to a reference European population and to globally distant populations. Estimations of fixation indices (FST values) between the Australian, Midwestern American and Netherlands populations suggest minimal genetic differentiation compared to the estimates between each population and a genetically distinct cohort (i.e., samples from Nigeria genotyped on GSA). Thus, results from this study demonstrate that genotype data from the Australian, Dutch and Midwestern American twin-family populations can be reasonably combined for joint-genetic analysis.


Assuntos
Doenças em Gêmeos/genética , Estudo de Associação Genômica Ampla , Técnicas de Genotipagem , Gêmeos/genética , Austrália , Genética Populacional , Genótipo , Humanos , Meio-Oeste dos Estados Unidos , Mães , Países Baixos , Nigéria , Polimorfismo de Nucleotídeo Único , Sistema de Registros
15.
Transl Psychiatry ; 9(1): 192, 2019 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-31431615

RESUMO

Our recent study has demonstrated that increased connectivity in the cerebello-thalamo-cortical (CTC) circuitry is a state-independent neural trait that can potentially predict the onset of psychosis. One possible cause of such "trait" abnormality would be genetic predisposition. Here, we tested this hypothesis using multi-paradigm functional magnetic resonance imaging (fMRI) data from two independent twin cohorts. In a sample of 85 monozygotic (MZ) and 52 dizygotic (DZ) healthy twin pairs acquired from the Human Connectome Project, we showed that the connectivity pattern of the identified CTC circuitry was more similar in the MZ twins (r = 0.54) compared with that in the DZ twins (r = 0.22). The structural equation modeling analysis revealed a heritability estimate of 0.52 for the CTC connectivity, suggesting a moderately strong genetic effect. Moreover, using an independent schizophrenia cotwin sample (10 discordant MZ cotwins, 30 discordant DZ cotwins, and 32 control cotwins), we observed a significant linear relationship between genetic distance to schizophrenia and the connectivity strength in the CTC circuitry (i.e., schizophrenia MZ cotwins > schizophrenia DZ cotwins > control twins, P = 0.045). The present data provide converging evidence that increased connectivity in the CTC circuitry is likely to be a heritable trait that is associated with the genetic risk of schizophrenia.


Assuntos
Encéfalo/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Doenças em Gêmeos/diagnóstico por imagem , Rede Nervosa/diagnóstico por imagem , Esquizofrenia/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Adulto , Conectoma , Doenças em Gêmeos/genética , Feminino , Predisposição Genética para Doença , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Esquizofrenia/genética
16.
Twin Res Hum Genet ; 22(4): 240-254, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31462340

RESUMO

The older Finnish Twin Cohort (FTC) was established in 1974. The baseline survey was in 1975, with two follow-up health surveys in 1981 and 1990. The fourth wave of assessments was done in three parts, with a questionnaire study of twins born during 1945-1957 in 2011-2012, while older twins were interviewed and screened for dementia in two time periods, between 1999 and 2007 for twins born before 1938 and between 2013 and 2017 for twins born in 1938-1944. The content of these wave 4 assessments is described and some initial results are described. In addition, we have invited twin-pairs, based on response to the cohortwide surveys, to participate in detailed in-person studies; these are described briefly together with key results. We also review other projects based on the older FTC and provide information on the biobanking of biosamples and related phenotypes.


Assuntos
Bancos de Espécimes Biológicos , Doenças em Gêmeos/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/genética , Estudos de Coortes , Doenças em Gêmeos/epidemiologia , Feminino , Finlândia/epidemiologia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fumar/epidemiologia , Fumar/genética , Inquéritos e Questionários
17.
Med Hypotheses ; 131: 109296, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31443773

RESUMO

BACKGROUND: Among the most common autonomic signs visible in preterm neonates, apnea can represent the first sign of several neurologic and non-neurologic disorders, and seizure is a relatively infrequent cause. Herein authors present a case of neonatal autonomic apnea, discussing the polygraphic video-EEG features of this pathological entity and the differential diagnosis with central apnea and autonomic apnea. CASE REPORT: A female preterm Caucasian infant (29 + 4 weeks' gestational age (GA)), first twin of a twin pregnancy, at birth was intubated and surfactant administration was performed. She was ventilated via invasive ventilation for three days, with subsequent weaning with non-invasive ventilation for other two days, when she stopped requiring any ventilator support. After one week the ventilation weaning, the child presented episodes of cyanosis associated with sudden oxygen desaturation, skin pallor, apnea, and bradycardia. Therefore, the child underwent a continuous video-eeg recording with polygraphic study. The exam showed the presence of apneic episodes with an abrupt and clear start, associated with oxygen desaturation at 70%, with minimal thoracic effort at onset, and then evolving into central apnea. Central apnea lasted about 16 s and presented clear start- and end-points. These episodes were also associated with suppression of the EEG trace in frequency and amplitude, and after about 10 s of central apnea an abrupt decrease of the child's heart rate (more than 50% variation, from 160 bpm to 65 bpm) was recorded. In the suspect of epileptic apneas of autonomic origin, a therapy with oral Levetiracetam, at a starting dose of 10 mg/Kg/day, then increased up to 40 mg/Kg/day, was initiated, and after about 48 h the first administration of the anticonvulsant therapy, no new episodes of cyanosis or electrical apneas were recorded. HYPOTHESIS: Herein the authors suggest to consider the diagnosis of autonomic seizures in those neonates with apneic events associated with EEG suppression. Considering that apnea events are not only present in preterm infants but also in term neonates, it is mandatory to diagnose in this context neonatal seizures for a correct diagnosis and a proper therapeutic choice.


Assuntos
Apneia/diagnóstico , Doenças do Sistema Nervoso Autônomo/diagnóstico , Eletroencefalografia , Hipóxia/etiologia , Doenças do Prematuro/diagnóstico , Anticonvulsivantes/uso terapêutico , Apneia/classificação , Apneia/complicações , Apneia/fisiopatologia , Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Bradicardia/etiologia , Bradicardia/fisiopatologia , Cianose , Diagnóstico Diferencial , Doenças em Gêmeos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Levetiracetam/uso terapêutico , Convulsões/diagnóstico , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/etiologia , Apneia do Sono Tipo Central/fisiopatologia , Gravação em Vídeo
18.
Twin Res Hum Genet ; 22(4): 255-264, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31282317

RESUMO

There are no studies and only limited data that compare the difference in mortality between twins and singletons in the Arab world. We studied the survival of 306,966 children, including 9,280 twins, over the period 1970-2013 in six Arab countries (Algeria, Egypt, Iraq, Mauritania, Sudan and Tunisia) based on the Multiple Indicator Cluster Survey (MICS) database. With the use of relative survival models, we estimated the mortality of twins relative to singletons by including socioeconomic and demographic variables. This study confirms the results of previous studies on the excess risk of death of twins compared to singletons. There is evidence that excess mortality decreases with follow-up; in addition, male twins have a higher risk of death compared to females for all countries except Tunisia. Wealth index and education levels of women are factors that influence the risk of mortality. It is recommended that these findings are considered when performing future health and population strategies in these Arab countries.


Assuntos
Doenças em Gêmeos/mortalidade , Mortalidade Infantil , Gêmeos/genética , Árabes/genética , Peso ao Nascer/genética , Criança , Doenças em Gêmeos/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores Socioeconômicos , Tunísia/epidemiologia
19.
Medicine (Baltimore) ; 98(26): e15858, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261494

RESUMO

This analysis aims to describe the outcomes of two nonambulatory patients with Duchenne muscular dystrophy (DMD) who participated in two clinical studies. The two consecutive trials of eteplirsen (studies 201 and 202) were conducted in patients with DMD (N = 12) and confirmed genetic mutations amenable to exon 51 skipping.In study 201, 12 patients were randomized to receive once-weekly, double-blind intravenous infusions of eteplirsen 30 or 50 mg/kg or placebo for 24 weeks; patients then received open-label eteplirsen during weeks 25 through 28. All 12 patients continued onto open-label extension study 202 and received long-term treatment with eteplirsen. We compared cardiac, pulmonary, and upper limb function and dystrophin production in the nonambulatory twin patients versus the 10 ambulatory patients through 240 combined treatment weeks.Ten study patients remained ambulatory through both studies, while the identical twin patients both experienced early, rapid loss of ambulation. The twin patients had greater disease severity at baseline (6-minute walk test [6MWT], 330 and 256 m) versus the other patients (n = 10; 6MWT range, 341-418 m). They maintained cardiac and upper limb function through combined week 240, with outcomes similar to those of the patients who remained ambulatory. Dystrophin production was confirmed following eteplirsen treatment.Despite the loss of ambulation, other markers of disease progression remained relatively stable in the eteplirsen-treated twin patients and were similar to those of the ambulatory patients.


Assuntos
Morfolinos/uso terapêutico , Distrofia Muscular de Duchenne/tratamento farmacológico , Criança , Progressão da Doença , Doenças em Gêmeos , Método Duplo-Cego , Distrofina/genética , Distrofina/metabolismo , Humanos , Masculino , Morfolinos/efeitos adversos , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/fisiopatologia , Processamento Pós-Transcricional do RNA/efeitos dos fármacos , Índice de Gravidade de Doença , Resultado do Tratamento , Teste de Caminhada , Caminhada
20.
Twin Res Hum Genet ; 22(4): 272-276, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31284890

RESUMO

Co-twin control is a well-known methodological twin research design, but its variations and complexities are less well known. Various issues and illustrations are presented with reference to studies involving natural events, experimental interventions and rare happenings that underlie monozygotic (MZ) twins' environmental differences. This discussion is followed by summaries of recent twin research pertaining to cancer risk in overweight twins, the physical risk to surviving twins after fetal loss of a co-twin, a 20-year update of twin concordance for Parkinson's disease, and neuroanatomical differences in musically discordant MZ twin pairs. Several twin-related items that have attracted attention in the news are also summarized.


Assuntos
Doenças em Gêmeos/epidemiologia , Neoplasias/epidemiologia , Sobrepeso/epidemiologia , Doença de Parkinson/epidemiologia , Doenças em Gêmeos/genética , Doenças em Gêmeos/fisiopatologia , Feminino , Humanos , Masculino , Música , Neoplasias/genética , Neoplasias/patologia , Neuroanatomia , Sobrepeso/genética , Sobrepeso/fisiopatologia , Doença de Parkinson/genética , Doença de Parkinson/patologia , Paternidade , Gravidez , Gravidez de Gêmeos/genética , Gravidez de Gêmeos/fisiologia , Cuidado Pré-Natal , Fatores de Risco , Gêmeos Unidos/fisiopatologia , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
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