RESUMO
This prospective study examined the prevalence, clinical features, and risk factors of osteonecrosis of the femoral head among adult sickle cell disease patients in Guadeloupe. Screening of osteonecrosis of the femoral head was performed using radiography, bone scintigraphy, and tomodensitometry. One hundred thirteen adults with sickle cell disease (67 SS and 46 SC patients) comprised the study population. Forty-two (37.2%) patients had osteonecrosis of one or both hips (67 [29.6%] hips) without association to a particular genotype, although bilateral involvement was more frequent among SS patients. While the prevalence of femoral head osteonecrosis increased with age, patients of all ages were affected, particularly young SC adults. Osteonecrosis of the femoral head was diagnosed at preradiographic stages (stage I) in 30% of hips and was frequently asymptomatic (60% of all cases; 95% and 90% of stages I and II, respectively). Osteonecrosis of the femoral head was significantly associated with a history of leg ulcer and osteonecrosis of the humeral head. SS patients with higher hemoglobin levels had an increased risk of osteonecrosis of the femoral head.
Assuntos
Anemia Falciforme/epidemiologia , Necrose da Cabeça do Fêmur/epidemiologia , Adulto , Distribuição por Idade , Anemia Falciforme/diagnóstico , Comorbidade , Intervalos de Confiança , Feminino , Necrose da Cabeça do Fêmur/diagnóstico , Guadalupe/epidemiologia , Humanos , Modelos Logísticos , Masculino , Análise Multivariada , Prevalência , Estudos Prospectivos , Fatores de Risco , Distribuição por SexoRESUMO
BACKGROUND: In Europe and North America, Parkinson's disease is the major form of parkinsonism; less than 4% of cases are progressive supranuclear palsy (PSP) and about 20% are atypical parkinsonism. The distribution of these subgroups is different in the French West Indies. We aimed to define the clinical and demographic specificity of these disorders in Guadeloupe and to investigate a postulated link with consumption of herbal tea and fruits from the Annonaceae family (Annona muricata and Annona squamosa), which contain neurotoxic benzyltetrahydroisoquinoline alkaloids. METHODS: Between September, 1996, and August, 1998, 87 consecutive patients with parkinsonism were referred to the single neurological department in Guadeloupe. After detailed clinical, neurophysiological, cognitive, and neuroradiological assessment, they were classified by generally accepted criteria as having Parkinson's disease, PSP, or atypical parkinsonism. We compared the amount of tropical fruits and herbal tea consumed by the various parkinsonian subgroups and by frequency-matched controls (patients with benign symptoms and no neurodegenerative disease). FINDINGS: Of the 87 patients, 22 had Parkinson's disease, 31 had PSP, 30 had atypical parkinsonism, and four had atypical parkinsonism associated with motor neuron disease, 44 of the patients with PSP or atypical parkinsonism were male. The patients with atypical parkinsonism had symmetrical rigidity and bradykinesia, and no levodopa peak-dose dyskinesias. Patients with PSP differed from those with atypical parkinsonism because they had supranuclear vertical down-gaze palsy, severe gait and balance problems, and frontal-lobe syndrome. 29 patients with PSP reported regular consumption of pawpaw fruit, and 26 drank herbal tea. 30 patients with atypical parkinsonism reported regular consumption of pawpaw fruit, and 24 drank herbal tea. Both of these groups consumed significantly more fruit and herbal tea than patients with Parkinson's disease (fruit: odds ratio 23.6; herbal tea: 28.2); and controls (fruit: 20.7; herbal tea: 6.48). INTERPRETATION: Our study confirms the over-representation of atypical parkinsonism and PSP in patients with parkinsonism in the French West Indies. Chronic exposure to neurotoxic alkaloids could be an important aetiological factor because these compounds induce parkinsonism in animals. A larger epidemiological study, to clarify the link between these fruits with atypical parkinsonism and PSP, is proposed.
Assuntos
Bebidas/efeitos adversos , Frutas/efeitos adversos , Doença de Parkinson Secundária/etiologia , Paralisia Supranuclear Progressiva/etiologia , Idoso , Idoso de 80 Anos ou mais , Alcaloides/intoxicação , Estudos de Casos e Controles , Feminino , Frutas/química , Guadalupe/epidemiologia , Humanos , Isoquinolinas/intoxicação , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Doença de Parkinson Secundária/diagnóstico , Doença de Parkinson Secundária/epidemiologia , Plantas/química , Paralisia Supranuclear Progressiva/diagnóstico , Paralisia Supranuclear Progressiva/epidemiologiaRESUMO
Fragile-X syndrome (FXS) is the most common cause of inherited intellectual disability. Although FXS has been identified in all the main ethnic groups, little is known about its prevalence with respect to ethnicity. Since the identification of the FXS primary defect, diagnosis involving DNA analysis has been made possible, allowing efficient screening strategies to be considered. The present authors have carried out FXS screening among children belonging mainly to the Afro-Caribbean ethnic group (163 boys and 85 girls) affected with moderate to severe intellectual disability of previously unknown origin. We have found a 6.7% and 0% prevalence among boys and girls, respectively, yielding a minimum FXS incidence of 0.42 per 1000 male births per year. Family studies have resulted in genetic counselling for several individuals. FRAXE screening was also achieved and no FRAXE case was detected in this study.
Assuntos
Negro ou Afro-Americano/estatística & dados numéricos , Fragilidade Cromossômica , Síndrome do Cromossomo X Frágil/epidemiologia , Deficiência Intelectual/epidemiologia , Adolescente , Negro ou Afro-Americano/psicologia , População Negra/genética , Southern Blotting , Criança , Estudos Transversais , Estudos de Viabilidade , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Aconselhamento Genético , Testes Genéticos , Guadalupe/epidemiologia , Humanos , Incidência , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Linhagem , Reação em Cadeia da PolimeraseRESUMO
Fragile x syndrome (FXS) is the most frequent cause of inherited mental retardation (1:1500 males, 1:2500 females) and affects all ethnic groups. Recent demonstration of an original genetic basis, involving expansion of a (CGG)n repeat in affected individuals, has allowed development of efficient, specific and sensitive laboratory procedures of DNA analysis. Diagnosis of FXS has important implications in terms of genetic counselling. We have conducted a screening survey of FXS (and FRAXE) in Guadeloupe, among 138 boys and 88 girls affected with moderate to severe mental retardation and attending special schools. Using the procedure described by Wang et al (1995), with modifications, in order to estimate prevalence of FXS among these children and compare it to prevalences observed among Caucasian populations identify FXS index cases allowing for genetic counseling for their families and evaluate systematic screening for FXS and FRAXE using DNA analysis. We found a prevalence of FXS of 5.7 percent among boys and 0 percent among girls (3.5 percent overall); none of these cases was already known. No FRAXE case was identified. These results are consistent with other similar surveys concerning Caucasian populations. This study, like others, has demonstrated the efficiency, acceptablility and usefulness on DNA analysis for FXS screening (AU)
Assuntos
Criança , Feminino , Humanos , Masculino , Síndrome do Cromossomo X Frágil/epidemiologia , Deficiência Intelectual/etiologia , Região do CaribeRESUMO
Osteonecrosis of the femoral head (ONFH) is a frequent complication of sickle-cell disease (SCD). We conducted systematic screening of ONFH by using the association of radiography, bone scintigraphy and tomodensitometry. This paper presents our first results concerning 113 adult patients (67 SS, 46 SC), prevalence, clinical features, risk factors, and association with other SCD complications. Forty-two patients (37.2 percent) were found to have osteonecrosis of one or both hips (67 hips, 29.6 percent) without association to a particular genotype, although bilateral involvement was considerably more frequent among SS patients. ONFH affected patients of all ages and in particular SC young adult patients were found to be affected frequently. ONFH was diagnosed at pre-radiological stages (Stage 1) for 31.3 percent of hips and was frequently aysmptomatic (60 percent of all cases, 95 and 90 percent of Stages I and II, respectively), indicating need for systematic screening when early diagnosis is desired. For SS patients, ONFH was more frequent when follow-up began later. ONFH was also associated with higher parity and history of leg ulcer for both genotypes. No correlation was found with biological data, in particular haematological variables, except for high glucose levels for SS patients. We have initiated a prospective study of ONFH among patients followed at the SCD Centre of Guadeloupe, with special concern in diagnosis at pre-radiological stages, and outcome of patients. Further data will be provided by longitudinal follow-up of adult patients as well as inclusion of children followed from birth after neonatal screening (AU)