RESUMO
Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.
Assuntos
Anormalidades Múltiplas , Anormalidades Craniofaciais , Nanismo , Anormalidades Múltiplas/diagnóstico , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico , Nanismo/diagnóstico , Feminino , Humanos , Recém-Nascido , Perna (Membro)/anormalidades , Deformidades Congênitas dos Membros , Pelve/anormalidades , Coluna Vertebral/anormalidades , Síndrome , Tórax/anormalidadesRESUMO
Diabetes mellitus is a heterogeneous disease that might present as insulin-dependent (type I), non-insulin-dependent (type II), and other forms associated with other endocrine and genetic conditions, as well as those secondary to different infiltrative or destructive pancreatic diseases, parasitosis and post-pancreatectomy patients. Insulin-dependent diabetes mellitus is mainly associated to immunological problems, probably by derangement caused by external factors, such as viral infections that favor destruction of beta cells of the pancreas. On type II diabetes the hereditary component is more important and does not present immunological problems. Different etiological considerations are included, as well as associated genetic markers that are described in the text.
Assuntos
Diabetes Mellitus/epidemiologia , Doenças Autoimunes/complicações , Diabetes Mellitus/etiologia , Diabetes Mellitus/genética , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Antígenos HLA/genética , Humanos , Viroses/complicaçõesAssuntos
Poluição Ambiental , Adulto , Criança , Saúde Ambiental , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Porto RicoRESUMO
Mercury contamination constitutes a serious health problem. Several ecological accidents have occurred in the world due to industrial contamination and consumption of mercury contaminated food. This article summarizes the increased absorption levels of mercury among dwellers of Ciudad Cristiana Housing Project in Humacao, Puerto Rico confirming the exposition to the metal as documented by sediment analysis of the area performed by the Puerto Rico Environmental Quality Board. This obliged the local government to remove the dwellers from the area because of the probable health hazard.
Assuntos
Intoxicação por Mercúrio/epidemiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Intoxicação por Mercúrio/prevenção & controle , Porto Rico/epidemiologiaRESUMO
Puerto Rico presents the highest incidence in the world of anomalous sexual development. The authors have collected over 3100 cases in the past 19 years. Clinical and laboratory studies suggest possible estrogenic contamination of meats and poultry products. Variation in diet provides protection to a significant number of patients. The possibility of mycotic contamination of food employed in animal husbandry by Fusarium sp., and mycotoxins capable of estrogenic effects have been suggested in a preliminary study. Private and government investigators are active in the study of the condition, but more fiscalizing action is needed. A detailed study of food components for possible contaminants determination is considered mandatory.
Assuntos
Doença da Mama Fibrocística/epidemiologia , Ginecomastia/epidemiologia , Cistos Ovarianos/epidemiologia , Puberdade Precoce/epidemiologia , Adolescente , Adulto , Pré-Escolar , Estrogênios/efeitos adversos , Feminino , Doença da Mama Fibrocística/induzido quimicamente , Contaminação de Alimentos , Ginecomastia/induzido quimicamente , Humanos , Masculino , Cistos Ovarianos/induzido quimicamente , Puberdade Precoce/induzido quimicamente , Porto Rico/epidemiologiaRESUMO
A new precise method of personal identification with significant implications for civil and criminal paternity cases, as well as for other forensic purposes and genetic studies is presented. DNA multi-locus analysis offers a discrimination of 1 in 30 billions, constituting the most precise determination in paternity testing. If we consider that the world population is around 5 billion people, and that less than 2.5 billions are males, of the which approximately 1/3 are not adults, then we can see how the possibility of error is extremely low. It makes other paternity studies with HLA, blood groups, enzymes and proteins ineffective in paternity disputes. All courts and legal personnel should be aware of the scientific implications of this new available test in our media.