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Genes Immun ; 18(3): 197-199, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28769069


Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Nearly 30% of ARA cases present mutations in the µ heavy constant region gene IGHM. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the µ heavy chain. The genetic study showed that the patient is compound heterozygous for an IGHM gene deletion and the novel nonsense mutation X57331.1:g.275C>A (p.Tyr43*) (ClinVar Accession Number: SCV000537868.1). This finding allows for an adequate genetic counseling to the family and also broadens the spectrum of already described point mutations at this locus. The IGHM gene is very complex and it is likely that yet unidentified mutations appear in other patients.

Agamaglobulinemia/genética , Códon sem Sentido , Deleção de Genes , Doença das Cadeias Pesadas/genética , Cadeias mu de Imunoglobulina/genética , Agamaglobulinemia/patologia , Feminino , Genes Recessivos , Heterozigoto , Humanos , Lactente
Clin Transl Oncol ; 19(1): 76-83, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27041689


INTRODUCTION: SIOPEN INES protocol yielded excellent 5-year survival rates for MYCN-non-amplified metastatic neuroblastoma. Patients deemed ineligible due to lack or delay of MYCN status or late registration were treated, but not included in the study. Our goal was to analyse survival at 10 years among the whole population. MATERIALS AND METHODS: Italian and Spanish metastatic INES patients' data are reported. SPSS 20.0 was used for statistical analysis. RESULTS: Among 98 infants, 27 had events and 19 died, while 79 were disease free. Five- and 10-year event-free survival (EFS) were 73 and 70 %, and overall survival (OS) was 81 and 74 %, respectively. MYCN status was significant for EFS, but not for OS in multivariate analysis. CONCLUSIONS: The survival rates of patients who complied with all the inclusion criteria for INES trials are higher compared to those that included also not registered patients. Five-year EFS and OS for INES 99.2 were 87.8 and 95.7 %, while our stage 4s population obtained 78 and 87 %. Concerning 99.3, 5-year EFS and OS were 86.7 and 95.6 %, while for stage 4 we registered 61 and 68 %. MYCN amplification had a strong impact on prognosis and therefore we consider it unacceptable that many patients were not studied for MYCN and probably inadequately treated. Ten-year survival rates were shown to decrease: EFS from 73 to 70 % and OS from 81 to 74 %, indicating a risk of late events, particularly in stage 4s. Population-based registries like European ENCCA WP 11-task 11 will possibly clarify these data.

Biomarcadores Tumorais/genética , Ensaios Clínicos como Assunto , Amplificação de Genes , Proteína Proto-Oncogênica N-Myc/genética , Neuroblastoma/mortalidade , Criança , Pré-Escolar , Terapia Combinada , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estadiamento de Neoplasias , Neuroblastoma/genética , Neuroblastoma/secundário , Neuroblastoma/terapia , Prognóstico , Taxa de Sobrevida
Emergencias (St. Vicenç dels Horts) ; 15(4): 207-210, jul. 2003. tab
Artigo em Espanhol | IBECS | ID: ibc-25318


Introducción: La rotura diafragmática es conocida desde 1541, inicialmente relacionada con el trauma militar; tras la invención del automóvil y el crecimiento de la violencia civil se observa con una frecuencia creciente en nuestro medio. Métodos: Estudio retrospectivo a lo largo de 20 años que incluye a 38 pacientes afectos de traumatismos diafragmáticos confirmados quirúrgicamente. Resultados: El agente etiológico más frecuente fueron los accidentes de circulación con el 60,5 por ciento de los casos y, globalmente, el traumatismo toracoabdominal cerrado fue el mecanismo más frecuente de trauma con el 63,15 por ciento de los casos. La clínica contribuyó poco al diagnóstico y la radiografía de tórax fue la prueba más rentable. El hemidiafragma izquierdo, con el 81,6 por ciento de los casos, fue el afectado con mayor frecuencia. Todos los pacientes tenían lesiones asociadas, siendo el trauma esplénico el más habitual. Un 52,63 por ciento de los pacientes sufrió algún tipo de complicación y 5 pacientes (13,15 por ciento ) fallecieron. Conclusiones: La rotura diafragmática es una patología poco habitual, de diagnóstico preoperatorio difícil y cuyo tratamiento debe llevarse a cabo lo antes posible para disminuir la morbimortalidad de estos enfermos (AU)

Adolescente , Adulto , Idoso , Feminino , Pré-Escolar , Masculino , Pessoa de Meia-Idade , Criança , Humanos , Traumatismos Abdominais/etiologia , Estudos Retrospectivos , Mortalidade , Hérnia Diafragmática Traumática/etiologia , Hérnia Diafragmática Traumática/diagnóstico
Eur J Pediatr ; 155(10): 877-9, 1996 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8891557


UNLABELLED: We present a 5-year-old boy with a severe form of X-linked chronic granulomatous disease and hypersensitivity to sulphamides preventing prophylaxis with trimethoprim-sulphomethoxazole. Bone marrow transplantation was performed after preconditioning with busulphan and cyclophosphamide. The immediate post-transplant period was without complications. Complete chimerism was demonstrated and post-transplant oxidative metabolism was normal. The patient is asymptomatic 30 months after the graft. CONCLUSION: Bone marrow transplantation in cases of chronic granulomatous disease is controversial, although it could be useful in selected very severe cases in which prophylactic therapy is problematic.

Transplante de Medula Óssea , Doença Granulomatosa Crônica/terapia , Bussulfano/administração & dosagem , Pré-Escolar , Ciclofosfamida/administração & dosagem , Doença Granulomatosa Crônica/genética , Doença Granulomatosa Crônica/imunologia , Humanos , Imunossupressores/administração & dosagem , Masculino , Doadores de Tecidos
An Esp Pediatr ; 16(2): 119-26, 1982 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-7081857


The oral dosage of theophylline was adjusted in order to maintain a serum level between 10 and 20 micrograms/ml. in a group of 53 children whose ages were less tha nine years. A plan of regular increments with a maximal dosage reduced to 18.5 mg./kg./day was followed, with advantageous results. The necessary medium dosage was 18.4 +/- 2.7 mg./kg./day. This dosage didn't have statistically significant difference with that obtained previously by us (18.4 +/- 4.0) in a group of 46 children of comparable age but, by contrast, it had a statistically significant difference when compared with the dosage (24.1 +/- 5.5) obtained by another medical teams working with american children of similar age. After a fruitless search of known causes that could explain these differences, we think in the possibility of genetical and/or unknown environmental influences.

Asma/tratamento farmacológico , Teofilina/administração & dosagem , Administração Oral , Criança , Pré-Escolar , Humanos , Inativação Metabólica , Lactente , Teofilina/sangue , Teofilina/metabolismo
An Esp Pediatr ; 13(7): 605-10, 1980 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-7416653


Authors report a four month old patient, admitted to hospital because of blood in stools. Diagnosis of congenital deficiency of factor VII was established because such factor was practically absent; on the contrary, other coagulation factors were normal. His parents and sister presented a mild deficit of factor VII without clinical manifestations. An up-to date review of the problem is presented.

Deficiência do Fator VII/congênito , Testes de Coagulação Sanguínea , Epistaxe/etiologia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/genética , Humanos , Lactente , Masculino