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1.
Arch Pediatr ; 24(12): 1299-1311, 2017 Dec.
Artigo em Francês | MEDLINE | ID: mdl-29169712

RESUMO

The incidence of twin pregnancies has increased steadily for the last 40 years due to assisted reproductive technology and increased maternal childbearing age. Multiple pregnancies, especially monochorionic twin pregnancies, carry a high risk for the mother and the fetuses and require close follow-up. Twins are exposed to a higher risk of perinatal anoxia, in utero fetal demise, preterm birth, congenital malformations, fetal growth restriction, and vascular complications. Compared to singletons, twins are at higher risk of perinatal mortality and impaired neurodevelopmental outcome, justifying a thorough follow-up by pediatricians, including assessment and management of familial and psychosocial impact. This paper discusses the epidemiological, obstetrical, and genetic issues raised by twin pregnancies and reviews the data on the perinatal and neurological long-term outcomes of twins, as well as the psychosocial impact of multiple births on twins and their families.


Assuntos
Doenças em Gêmeos , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/genética , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações na Gravidez , Resultado da Gravidez , Gravidez de Gêmeos , Fatores de Risco
2.
Hum Genet ; 132(11): 1213-21, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23793441

RESUMO

Previous evidence has shown that Parkinson disease (PD) has a heritable component, but only a small proportion of the total genetic contribution to PD has been identified. Genetic heterogeneity complicates the verification of proposed PD genes and the identification of new PD susceptibility genes. Our approach to overcome the problem of heterogeneity is to study a population isolate, the mid-western Amish communities of Indiana and Ohio. We performed genome-wide association and linkage analyses on 798 individuals (31 with PD), who are part of a 4,998 member pedigree. Through these analyses, we identified a region on chromosome 5q31.3 that shows evidence of association (p value < 1 × 10(-4)) and linkage (multipoint HLOD = 3.77). We also found further evidence of linkage on chromosomes 6 and 10 (multipoint HLOD 4.02 and 4.35 respectively). These data suggest that locus heterogeneity, even within the Amish, may be more extensive than previously appreciated.


Assuntos
Amish/genética , Loci Gênicos , Doença de Parkinson/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 5/genética , Cromossomos Humanos Par 6/genética , Biologia Computacional , Ligação Genética , Predisposição Genética para Doença , Genoma Humano , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Indiana , Ohio , Linhagem , Polimorfismo de Nucleotídeo Único
3.
Med Trop (Mars) ; 70(3): 229-38, 2010 Jun.
Artigo em Francês | MEDLINE | ID: mdl-20734589

RESUMO

Mauritius is an island nation off the coast of Africa in the southwestern Indian Ocean. Improved socio-sanitation conditions over the past years have dramatically decreased the incidence of tropical diseases to levels comparable with those observed in developed countries. Some tropical illnesses including malaria, schistosomiasis, cysticercosis and lymphatic filariasis have been eradicated. Others such as amibiasis, typhoid fever and leprosy have become rare. However, because of the island's geographical proximity to countries with uncontrolled and suboptimal socio-sanitation conditions and its humid subtropical climate, there is a continued risk for certain vector transmitted tropical diseases such as Chikungunya and dengue. In addition, the incidence of HIV infection and AIDS has been rising rapidly since 2004 and tuberculosis remains a public health problem. Better living conditions have also been accompanied by an increase in cardiovascular and metabolic diseases that, along with cancer, are now the main causes of morbidity and mortality.


Assuntos
Doenças Transmissíveis/epidemiologia , Doenças Parasitárias/epidemiologia , Saúde Pública , Infecções por Alphavirus/epidemiologia , Doenças Cardiovasculares/epidemiologia , Vírus Chikungunya/isolamento & purificação , Doença Crônica/epidemiologia , Dengue/epidemiologia , Países em Desenvolvimento , Infecções por HIV/epidemiologia , Humanos , Incidência , Hanseníase/epidemiologia , Maurício/epidemiologia , Doenças Metabólicas/epidemiologia , Neoplasias/epidemiologia , Doenças Parasitárias/prevenção & controle , Saúde Pública/estatística & dados numéricos , Tuberculose/epidemiologia , Febre Tifoide/epidemiologia
4.
J Bone Miner Res ; 18(11): 1989-94, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14606511

RESUMO

UNLABELLED: The prevalence of osteoporosis was investigated in 88 patients with intestinal failure (IF). Osteoporosis was found in 67%, dependent of body mass index and age when IF occurred. In 56 patients on HPN, followed prospectively, changes in bone density were dependent on the duration of HPN; older patients had a higher increase. INTRODUCTION: It has been suggested that low bone mass and negative bone balance may occur in adult patients receiving home parenteral nutrition (HPN). The aim of this study was to assess prospectively the prevalence of osteoporosis in intestinal failure (IF) patients and the changes in bone mineral density in those on long-term HPN and to analyze the factors that may influence the occurrence and evolution of osteoporosis. MATERIALS AND METHODS: Bone mineral density was measured at the lumbar spine and femoral neck in 88 IF patients. RESULTS: At the first bone mineral density determination (baseline), the prevalence of osteoporosis was 67% in this population (median age, 52 years). Ten percent of the patients with osteoporosis experienced fragility fractures. Osteoporosis was independent of age and gender but occurred earlier in patients who had received corticosteroids. At baseline, the lumbar Z-score was positively correlated mainly to body mass index and age when IF occurred; these two parameters explained 34% of the Z-score. Repeated measurements were performed in 56 patients during long-term HPN (mean duration, 5.5 +/- 1.2 years). The changes in Z-score at the lumbar spine were dependent on the age when IF occurred and on the duration of HPN, with a synergistic effect between them. The older the patients, the higher the increase in Z-score during HPN. CONCLUSION: HPN had no deleterious effect on cortical bone and actually improved trabecular bone in patients whose intestinal disease started after the age of 21 years.


Assuntos
Osteoporose/epidemiologia , Osteoporose/etiologia , Nutrição Parenteral no Domicílio/efeitos adversos , Adolescente , Adulto , Idoso , Índice de Massa Corporal , Densidade Óssea/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Enteropatias/complicações , Enteropatias/dietoterapia , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Osteoporose/complicações , Osteoporose/fisiopatologia , Prevalência , Estudos Prospectivos , Fatores de Tempo
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