RESUMO
Periconceptional vitamin supplementation with folate prevents about three-quarters of expected cases of neural tube defects (NTDs) in clinical trials. However, vitamin action may be regulated at the level of the gene, and individual susceptibility to environmental agents, including dietary components, also may be under genetic control. We investigated the presence of familial factors in a retrospective case control study of neural tube defects in Genoa, Italy. Cases included all patients treated at a single pediatric neurosurgical service. Controls matched on age and sex came from the same hospital. We found strong evidence for the contribution of genetic factors in this study. There was an excess risk of 14 for the occurrence of NTDs in first-degree relatives compared to controls (P < .0005). There was no difference in sex ratio in any group of relatives, but maternal grandparents of children with a high spinal lesion had 14% fewer off-spring than paternal grandparents (P < .005), possibly because of excess miscarriages. Our study is the first to show complex patterns of inheritance in spina bifida families affecting three generation in one clinical subgroup and preferentially on the mother's side. These results support a role for genomic imprinting and highlight the value of multidisciplinary epidemiologic and clinical studies that include multiple generations. New studies incorporating dietary and genetic approaches will help clarify and extend these findings.
Assuntos
Defeitos do Tubo Neural/genética , Adolescente , Adulto , Criança , Pré-Escolar , Família , Feminino , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Núcleo Familiar , Estudos Retrospectivos , Fatores SexuaisRESUMO
Cytogenetic techniques were used to study the tissue involved in neural tube defects. Eighteen patients have been evaluated and no specific alterations have been detected. We conclude that, whatever are the mechanisms that lead to neural tube defect, their origins must be searched for at the molecular level.
Assuntos
Aberrações Cromossômicas , Tecido Nervoso/ultraestrutura , Defeitos do Tubo Neural/genética , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 14 , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Crista Neural/patologia , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/patologia , Translocação GenéticaRESUMO
The association of de Toni-Debré-Fanconi syndrome with alteration of galactose metabolism and glycogen hepatic storage, before further clarification, is defined as Fanconi-Bickel syndrome. The Authors present a case in which the alterations in galactose metabolism typically do not affect the enzymes responsible for galactosemia. In such patients a recognised enzymatic defect glycogenosis is not involved and glycogen storage in the liver can be a secondary phenomenon, which can increase, differing according to each subject. Liver biopsy to detect storage can be avoided when all the other diagnostic criteria are observed.
