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1.
Rev Med Interne ; 18 Suppl 1: 46s-51s, 1997.
Artigo em Francês | MEDLINE | ID: mdl-9183463

RESUMO

Priapism is a frequent and serious cause of morbidity in males with sickle cell disease. Acute priapism (AP) is preceeded in two-thirds of the cases by repeated minor events called stuttering priapism (SP). Since 1994, we have used a specific approach to prevent the commonly devastating effects of AP, using the alpha adrenergic agent etilefrine. Treatment of AP has been simplified (drainage without aspiration followed by one or two intracavernous injections (ICI) of 10 mg of etilefrine, until detumescence). For SP lasting more than one hour or causing pain, we use oral etilefrine and/or self ICI. This strategy was effective in five patients seen having AP, 21 patients with SP; it is simple, cheap, and avoids surgical procedure and transfusion. Moreover, erectile dysfunction, present in three patients, has been treated safely by ICI of protaglandins.


Assuntos
Priapismo/terapia , Traço Falciforme/complicações , Adolescente , Agonistas alfa-Adrenérgicos/administração & dosagem , Agonistas alfa-Adrenérgicos/uso terapêutico , Adulto , Criança , Pré-Escolar , Etilefrina/administração & dosagem , Etilefrina/uso terapêutico , Humanos , Masculino , Priapismo/fisiopatologia , Priapismo/prevenção & controle , Fatores de Tempo
2.
Arch Pediatr ; 8(5): 474-80, 2001 May.
Artigo em Francês | MEDLINE | ID: mdl-11396106

RESUMO

UNLABELLED: We report a five-year experience of targeted neonatal screening for sickle cell disease in the northern part of the Paris area as well as the follow-up procedure of screened patients. POPULATION: This geographic area in France is characterized by a high frequency of populations at risk for sickle cell disease. RESULTS: Among 115,480 tested newborns, 250 patients were diagnosed (frequency: 1/462). The quality of the screening was attested by the high frequency (5.34%) of newborn carriers for a hemoglobin abnormality (n = 6168). We developed an optimized strategy which avoids the majority of pitfalls (false positive and false negative responses), except for S/HPFH. More than 95% of sickle cell disease was followed, the majority by medical sickle cell disease experts from hospitals. Only two deaths were recorded during this time period. CONCLUSION: We demonstrate the efficiency of targeting the proposed methodological strategy and the follow-up of affected newborns, a major argument demonstrating the importance of newborn screening.


Assuntos
Anemia Falciforme/diagnóstico , Programas de Rastreamento , Anemia Falciforme/epidemiologia , Reações Falso-Positivas , Feminino , França/epidemiologia , Humanos , Incidência , Recém-Nascido , Masculino , População Urbana
4.
Br J Haematol ; 96(4): 806-14, 1997 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-9074425

RESUMO

Five factors have been hypothesized to influence the 20-fold variation in fetal haemoglobin (Hb F) levels in sickle cell anaemia (SS): age sex, alpha-globin gene number, beta-globin haplotype, and the X-linked F-cell production locus (FCP) that regulates the production of Hb F containing erythrocytes (F cells). We analysed the association of these factors with Hb F levels in 112 SS patients living in France who are homozygous for the three common African beta-globin haplotypes (Benin, Bantu or Central African Republic and Senegal). We found that: (1) FCP accounts for about 40% of the overall variation in Hb F levels, (2) when the FCP influence is removed, beta-globin haplotype is associated with 14% of the remaining Hb F variation, and (3) the other factors have little influence. Comparison with our previous study of SS individuals in Jamaica leads to the following conclusions: (1) the X-linked FCP locus is a major determinant of Hb F levels in SS disease, (2) factors linked to the beta-globin haplotype have only a small effect on the variation in Hb F levels, in either the homozygous or heterozygous state, and (3)approximately half of the variation in Hb F levels still remains to be explained.


Assuntos
Anemia Falciforme/genética , Hemoglobina Fetal/análise , Globinas/genética , Adolescente , Adulto , Anemia Falciforme/sangue , Criança , Pré-Escolar , Feminino , Ligação Genética , Haplótipos , Humanos , Lactente , Masculino , Fenótipo , Análise de Regressão , Reticulócitos/patologia , Cromossomo X
5.
Eur J Haematol ; 65(3): 155-64, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11007050

RESUMO

A subset of 299 patients with homozygous sickle cell anaemia, enrolled in the cohort of the French Study Group on sickle cell disease (SCD), was investigated in this study. The majority of patients were children (mean age 10.1 +/- 5.8 yr) of first generation immigrants from Western and Central Africa, the others originated from the French West Indies (20.2%). We report the frequency of the main clinical events (mean follow-up 4.2 +/- 2.2 yr). The prevalence of meningitis-septicaemia and osteomyelitis was, respectively, 11.4% and 12% acute chest syndrome was observed in 134 patients (44.8%). Twenty patients (6.7%) developed stroke with peak prevalence at 10-15 yr of age. One hundred and seventy-two patients (58%) suffered from one or more painful sickle cell crises, while the others (42.5%) never suffered from pain. The overall frequency of acute anaemic episodes was 50.5%, (acute aplastic anaemia 46%; acute splenic sequestration 26%). A group of 27 patients were asymptomatic (follow-up > 3 yr). Epistatic mechanisms influencing SCD were studied. Coinherited alpha-thalassemia strongly reduced the risk of stroke (p <0.001) and increased that of painful crises (p < 0.02). There was a low prevalence of Senegal and Bantu (CAR) betas-chromosomes in patients with meningitis (p <0.04) and osteomyelitis (p < 0.03). Prevalence of Senegal betas-chromosomes was lower in the asymptomatic group of 27 patients (p < 0.02). The patients come from a population of unmixed immigrants in whom the beta-globin gene haplotype strongly reflects the geographic origin and identifies subgroups with a homogenous genetic background. Thus the observed effects might result more from differences in as yet unidentified determinants in the genetic background than from the direct linkage with differences in the beta-globin gene locus.


Assuntos
Anemia Falciforme/complicações , Doença Aguda , Adolescente , Anemia Falciforme/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , França/epidemiologia , Genótipo , Humanos , Masculino , Meningite/complicações , Meningite/epidemiologia , Osteomielite/complicações , Osteomielite/epidemiologia , Fenótipo , Fatores de Risco , Sepse/complicações , Sepse/epidemiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia , Talassemia alfa/complicações , Talassemia alfa/genética
6.
J Pediatr Hematol Oncol ; 19(4): 313-8, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9256830

RESUMO

PURPOSE: To observe the safety and efficacy of hydroxyurea (HU), a drug that stimulates fetal hemoglobin (Hb F) production, in previously severely ill children with sickle cell disease. PATIENTS AND METHODS: HU was given in an uncontrolled study to 35 children with sickle cell disease, aged from 3 to 20 years, suffering from frequent painful crises. Mean duration of treatment was 32 months (range: 12-59 months). RESULTS: HU induced an increase in Hb F levels in all children out one; this increase was maximal after 9 months of treatment, was largely sustained thereafter, and was related to HU dose and inversely to patients' age. We also noted an apparent reduction in crisis, which occurred principally after 3 months of therapy and did not seem strictly correlated with the rise in Hb F level. No serious hematopoietic complication was observed. Growth curves and sexual development were not modified. CONCLUSION: Our data support the efficacy of HU in reducing painful events in children with sickle cell disease. Short- and middle-term tolerances are good. Thus, we think that HU can be given to children affected by frequent and severe painful crises. We recommend, however, very cautious use of this drug, because its long-term effects in children are still unknown.


Assuntos
Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/uso terapêutico , Hidroxiureia/uso terapêutico , Adolescente , Adulto , Anemia Falciforme/sangue , Antidrepanocíticos/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas , Criança , Pré-Escolar , Feminino , Hemoglobina Fetal/metabolismo , Seguimentos , Crescimento/efeitos dos fármacos , Cabelo/efeitos dos fármacos , Hemoglobinas/metabolismo , Humanos , Hidroxiureia/efeitos adversos , Hiperpigmentação/induzido quimicamente , Nefropatias/induzido quimicamente , Masculino , Doenças da Unha/induzido quimicamente , Puberdade/efeitos dos fármacos
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