Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To determine relationships between genotype and renal and hepatic abnormalities we correlated the severity of renal and hepatic histological lesions to the type of PKHD1 mutations in 54 fetuses (medical pregnancy termination) and 20 neonates who died shortly after birth.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes.

Prenatal transmission of dengue: two new cases.

Dengue is commonly observed in most tropical countries, but its transmission from mother to fetus has not been frequently described. We report two such cases. The first signs of dengue in the infants appeared on the 3rd and 9th days of life.

Diverse genetic mechanisms operate to generate atypical betaS haplotypes in the population of Guadeloupe.

In a survey of the chromosomal background associated with the sickle cell gene in Guadeloupe, a French Caribbean island, we identified 37 unrelated patients with sickle cell disease (27 SS, nine SC, and one S-beta-thalassemia) of 477 unrelated sickle cell patients where the beta3 gene was linked to 20 different atypical haplotypes. These atypical chromosomes account for about 5% of the overall betaS chromosomes in this population. To investigate the origin of these atypical betaS haplotypes, we performed extensive typing of betaS and betaA chromosomes.

[Acute childhood gastroenteritis study at Central University Hospital of Pointe-à-Pitre/Abymes, Guadeloupe, from November 1997 to March 1998].

To determine the role of enteric pathogens in acute childhood diarrhoea in Guadeloupe, 161 children (108 cases and 53 controls) from 0 to 2 years of age, admitted to Pointe-à-Pitre/Abymes University Hospital, were evaluated over a five-month period. A known enteric pathogen was identified in 40.8% of children.

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios.

[Analysis of hospitalization of adult sickle-cell patients in Guadeloupe].

Purpose: To determine the characteristics of acute hospitalizations in adult patient with sickle-cell disease in Guadeloupe.

Methods: We retrospectively studied clinical features of adult patients followed up by the "Centre Caribeen de la Drépanocytose" (CCD) in 1996. Data were collected from the medical records of the hospitalized patients and the longitudinal records of the CCD.

[Sickle cell anemia and pregnancy: review of 68 cases in Guadeloupe].

Pregnancy in women with major sickle cell syndromes is a high risk maternofetal situation. This descriptive study presents the features and the clinical course of 68 pregnancies in sickle cell women who were delivered in Guadeloupe from January 1(st) 1993 to December 31(st) 1997. Specific complications were observed in all hemoglobin types, but with a severer course in SS women.

Morphological features of the human umbilical vein in normal, sickle cell trait, and sickle cell disease pregnancies.

Pathological changes often occur in the placenta of women with sickle cell disease (SCD). These alterations are caused by sickling of erythrocytes and vasoocclusion in the placental circulation, leading to regional hypoxia. However, the morphological status of the umbilical cord, which is in close physical association with the placenta, is not documented under such conditions.

Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies.

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.

Sickle cell disorder, beta-globin gene cluster haplotypes and alpha-thalassemia in neonates and adults from Guadeloupe.

We have studied haplotype of beta(S) chromosome and alpha-globin gene status in 534 patients (255 adults and 279 children of whom 159 neonates) from Guadeloupe with various sickle cell-related conditions, namely SS (n = 298), SC (n = 170), S-beta-thal (n = 56), and other rare forms (n = 10). Haplotype data on beta(S) chromosomes confirm our previous observation that Benin type is the most prevalent (75%) beta(S) chromosome in Guadeloupe, in disagreement with the historical records. Comparison of the frequency of distribution of various beta(S) haplotypes between neonates and adults on the one hand and between SS and SC cases on the other shows that the current beta(S) haplotype distribution in this island is not distorted by haplotype-related differential survival.

[Conditions of use and access to care of sickle cell anemia patients. Analysis of the literature].

In order to identify the care access and life conditions and non-compliance risk factors of sickle-cell patients, we performed a literature survey on these subjects, and on other chronic pathologies and care systems used as references. The data showed a positive influence of good quality of life, social support and family environment on diabetes mellitus patients compliance, and the negative effect of poor socioeconomic status on adequate prenatal care. Concerning sickle-cell disease, there were few data on the non-compliance risk factors.

Efficiency of prenatal counselling for sickle cell disease in Guadeloupe.

As in most caribbean countries, Sickle Cell Disease (SCD) is a major public health problem in Guadeloupe. A prenatal counselling program was developed, at an early stage of pregnancy, for at-risk couples. Over a 6 year period, 144 couples at-risk of having a child with homozygous sickle cell (SS: n = 103) or sickle cell C disease (SC: n = 41) were seen for prenatal counselling.

Molecular characterization of beta-thalassemia mutations in Guadeloupe.

In order to perform genetic counselling and prenatal diagnosis of Hb-S-beta-thalassemia disease and beta-thalassemia, we have delineated the spectrum of beta-thalassemia alleles in the Guadeloupean population. A sample of 63 unrelated families was analyzed including 70 beta-thalassemia carriers, 52 Hb-S-beta-thalassemia, and 8 patients with different beta-thalassemic hemoglobinopathies. Among the eleven mutations identified, four of them [-29 (A --> G), IVS-I-5 (G --> A), IVS-II-1 (G --> A), and IVS-I-5 (G --> C)] account for 77.

10-year educational programme aimed at rheumatic fever in two French Caribbean islands.

Background: In less developed countries, rheumatic fever still occurs. We started a long-term educational programme in two French Caribbean islands that was directed at the public and at health-care workers to see whether we could reduce the incidence of rheumatic fever.

Methods: Our 10-year programme started in 1981 in Martinique and Guadeloupe, and was based in the community and in clinics and hospitals.

beta S haplotypes, alpha-globin gene status, and hematological data of sickle cell disease patients in Guadeloupe (F.W.I.).

The beta gene cluster haplotypes, alpha gene status, Hb F level and hematological parameters have been characterized in 154 unrelated Guadeloupe patients with sickle cell disease: 112 with sickle cell anemia, 26 with SC disease, 15 with Hb S-beta-thalassemia, and one patient with Hb S in association with the hereditary persistence of fetal hemoglobin. Fourteen haplotypes in 16 combinations were found, the three major African haplotypes were present on 92% of all chromosomes: 73% Benin, 11% Bantu, 8% Senegal. Among SS patients, 57% were Benin homozygotes, one patient was a Senegal homozygote, one patient was a Bantu homozygote, and all the others were heterozygous.

[Natural history of sickle cell anemia].

Sickle-cell anaemia is characterized by three categories of clinical signs: anaemia, vaso-occlusive phenomena and infective complications, which are described here according to age. The natural history of the disease can be divided into four periods: the neonatal period which is asymptomatic but important to organize an effective protection; the first 5 years of life are characterized by a high risk of mortality, a high level of morbidity due to severe infections, episodes of acute anaemia and painful crises typical of that age-group; the life of older children and adolescents is dotted with painful crises; it is in this period that degenerative tissue pathology begins; in adulthood, the acute episodes are less frequent, but multiple complications develop. Some of them (cerebral vascular accidents or lung diseases) may be fatal, while others are the source of chronic and disabling lesions, notably ocular, orthopaedic and renal lesions, which affect the functional prognosis.

The Guadeloupean perinatal mortality audit: process, results, and implications.

In 1983, we implemented an ongoing perinatal mortality audit in Guadeloupe to identify factors underlying the current level of poor perinatal outcome and to stimulate increased provider motivation. The audit was part of an active research approach to document the specific nature of the perceived perinatal health problem, to modify provider behavior through the use of this acquired information, and, ultimately, to decrease avoidable perinatal deaths. We investigated all 320 perinatal deaths in Guadeloupe during 1984 and 1985.

Anamnestic pregnancy risk assessment.

Based on data obtained from the 1984-1985 Guadeloupean Perinatal Audit, a pregnancy risk scoring system was developed using maternal demographic, socioeconomic, obstetric history and risk characteristics recorded at the first prenatal visit. Various combinations of risk factors were identified for four distinct pregnancy outcomes (perinatal mortality, low birth weight, preterm delivery and intra-uterine growth retardation). The findings emphasize the importance of developing risk assessments for discrete pregnancy outcomes within specific populations.

A randomized comparison of early with conservative use of antihypertensive drugs in the management of pregnancy-induced hypertension.

Two treatment strategies were compared in 155 women with pregnancy-induced hypertension who were also given comprehensive non-pharmacological care. The mean gestation at entry was 28 weeks. As long as the diastolic blood pressure (DBP) remained below 106 mmHg, oxprenolol, or oxprenolol plus dihydralazine, were given to the early treatment group, and matching placebos to the control group.

[An example of research and actions related to perinatal mortality in Guadeloupe. Factors and profiles of sociodemographic risk].

Perinatal risk factors in Guadeloupe (French West Indies) have been analysed from a community-based case-control survey. Two hundred and sixty four perinatal deaths were involved along with 605 controls. Principal component factor analysis of individual risk characteristics was used to identify risk group profiles.