Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
1.
Clin Genet ; 95(2): 310-319, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30561787

RESUMO

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30 000, which is much higher than previous estimates in other populations. Clinically, we found an interesting trend toward genotype/phenotype correlation in terms of long-term survival. Nearly half (40/75) of our peroxisomal disorders patients had documented survival beyond 1 year of age. Most unusual among the long-term survivors was a multiplex family in which the affected members presented as adults with non-specific intellectual disability and epilepsy. Other unusual presentations included the very recently described peroxisomal fatty acyl-CoA reductase 1 disorder as well as CRD, spastic paraparesis, white matter (CRSPW) syndrome. We conclude that peroxisomal disorders are highly heterogeneous in their clinical presentation. Our data also confirm the demonstration that milder forms of Zellweger spectrum disorders cannot be ruled out by the "gold standard" very long chain fatty acids assay, which highlights the value of a genomics-first approach in these cases.


Assuntos
Árabes , Transtornos Peroxissômicos/epidemiologia , Transtornos Peroxissômicos/etiologia , Árabes/genética , Biomarcadores , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Estudos de Coortes , Consanguinidade , Efeitos Psicossociais da Doença , Gerenciamento Clínico , Suscetibilidade a Doenças , Fácies , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação , Linhagem , Transtornos Peroxissômicos/diagnóstico , Transtornos Peroxissômicos/terapia , Fenótipo , Vigilância da População , Prognóstico
2.
BMC Pediatr ; 15: 47, 2015 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-25895495

RESUMO

BACKGROUND: The management of a patent ductus arteriosus in preterm infants continues to be debated among neonatologists due to the absence of concrete evidence that precisely weighs the long term outcomes of active, early intervention against a conservative approach. In the majority of institutions, parents are encouraged to play an active role in the complex, decision -making processes with regard to the care of their infants. The objective of this study is to elicit maternal preferences for indomethacin prophylaxis versus treatment of a patent ductus arteriosus (PDA) in extremely low birth weight (ELBW) infants, utilizing a decision aid instrument (DAI). METHODS: Healthy and high risk pregnant women at 23-28 weeks gestation, and mothers of admitted ELBW infants were enrolled. A computer based, validated DAI was utilized during interviews. The DAI first provides information about prematurity and concurrent morbidities with comprehensive facts of the pros and cons about prophylactic versus treatment options. It subsequently coaches participants how to select values and preferences based on their decisions. A 17-item questionnaire assessed and valued each short and long term morbidity of extreme prematurity and preferred choice for PDA management. RESULTS: Two hundred ninety nine subjects were enrolled; 75% were healthy women at 23-28 weeks gestation, 19% were high risk and 6% recently delivered an ELBW infant. Eighty-two percent preferred a prophylactic indomethacin strategy versus symptomatic treatment for the management of PDA. Across a spectrum of potential morbidities, the occurrence of severe intraventricular hemorrhage was viewed by mothers as the most un-wanted outcome irrespective of the two proposed options. CONCLUSIONS: In contrast to neonatal practitioners, mothers who used this particular DAI strongly endorsed prophylactic indomethacin versus a treatment intervention for the management of PDA in preterm infants.


Assuntos
Fármacos Cardiovasculares/uso terapêutico , Técnicas de Apoio para a Decisão , Permeabilidade do Canal Arterial/tratamento farmacológico , Permeabilidade do Canal Arterial/prevenção & controle , Indometacina/uso terapêutico , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Mães/psicologia , Feminino , Humanos , Participação do Paciente , Gravidez , Estudos Prospectivos
3.
BMC Pediatr ; 11: 78, 2011 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-21888665

RESUMO

BACKGROUND: Decision Aids (DA) are well established in various fields of medicine. It can improve the quality of decision-making and reduce decisional conflict. In neonatal care, and due to scientific equipoise, neonatologists caring for extreme low birth weight (ELBW) infants are in need to elicit parents' preferences with regard to the use of indomethacin therapy in ELBW infants. We aimed to develop a DA that elicits parents' preferences with regard to indomethacin therapy in ELBW infants. METHODS: We developed a DA for the use of the indomethacin therapy in ELBW infants according to the Ottawa Decision Support Framework. The development process involved parents, neonatologists, DA developers and decision making experts. A pilot testing with healthy volunteers was conducted through an evaluation questionnaire, a knowledge scale, and a validated decisional conflict scale. RESULTS: The DA is a computer-based interactive tool. In the first part, the DA provides information about patent ductus arteriosus (PDA) as a disease, the different treatment options, and the benefits and downsides of using indomethacin therapy in preterm infants. In the second part, it coaches the parent in the decision making process through clarifying values and preferences. Volunteers rated 10 out of 13 items of the DA positively and showed significant improvement on both the knowledge scale (p = 0.008) and the decisional conflict scale (p = 0.008). CONCLUSION: We have developed a computer based DA to assess parental preferences with regard to indomethacin therapy in preterm infants. Future research will involve measurement of parental preferences to guide and augment the clinical decisions in current neonatal practice.


Assuntos
Fármacos Cardiovasculares/uso terapêutico , Técnicas de Apoio para a Decisão , Permeabilidade do Canal Arterial/prevenção & controle , Indometacina/uso terapêutico , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Adulto , Displasia Broncopulmonar/prevenção & controle , Permeabilidade do Canal Arterial/complicações , Feminino , Hemorragia/prevenção & controle , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Hemorragias Intracranianas/prevenção & controle , Pneumopatias/prevenção & controle , Pais , Projetos Piloto , Índice de Gravidade de Doença
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA