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1.
J S Afr Vet Assoc ; 2024 Jun 27.
Article de Anglais | MEDLINE | ID: mdl-39248352

RÉSUMÉ

BACKGROUND: The welfare of crocodiles on commercial farms in southern Africa requires precise assessment, focusing on stocking densities and pen conditions. However, disputes between animal welfare groups and farm owners persist due to inadequate methodologies for quantifying these factors. OBJECTIVES: This study aimed to address these disputes and enhance crocodile welfare assessment by introducing a novel technique using a low-cost consumer uncrewed aerial vehicle (UAV) and open-source photogrammetry software. The objective was to quantify key welfare parameters accurately and efficiently. METHOD: The study involved applying the UAV-based technique to two large Nile crocodile (Crocodylus niloticus) farms in South Africa. The approach enabled the mapping and surveying of crocodile pens, facilitating the determination of stocking densities, biomass indicators, and other pen-related attributes. Comparisons were made between UAV-derived crocodile counts and farmer estimates. RESULTS: The UAV-based crocodile counts significantly differed from the estimates provided by farmers, underscoring the need for a more precise assessment method. The technique's cost-effectiveness was evident, with implementation expenses totalling less than R10 000, a fraction of the cost associated with commercial UAV surveys. CONCLUSIONS: The introduced UAV-based technique offers a valuable solution to the ongoing debates regarding crocodile welfare on commercial farms. By quantifying key parameters accurately and economically, it empowers farmers and animal welfare groups to make informed decisions. The method's ease of adoption, demonstrated through its use by some Southern African crocodile farmers, signifies its potential for widespread application, ultimately contributing to improved crocodile welfare.

2.
S Afr Med J ; 106(6 Suppl 1): S103-6, 2016 May 25.
Article de Anglais | MEDLINE | ID: mdl-27245541

RÉSUMÉ

BACKGROUND: Fetal alcohol spectrum disorder (FASD) is an under-diagnosed condition in South Africa (SA). Fetal alcohol syndrome and FASD community prevalence studies were undertaken in 17 towns in three of the nine provinces in SA. OBJECTIVE: The objective for all the studies was to determine the FASD prevalence rates by assessing the grade 1 learners in all the studies, using international FASD diagnostic criteria. METHODS: The same methodology was used for all the studies in Gauteng, Western and Northern Cape provinces. Consenting grade 1 learners received anthropometric screening, clinical examinations and neurodevelopmental assessments. Structured interviews were used to assess maternal alcohol consumption during pregnancy. RESULTS: Reported prevalence rates ranged from 29 to 290 per 1 000 live births. CONCLUSION: FASD rates from studies conducted in SA are among the highest worldwide. FASD affects all communities in SA and is therefore a major public health concern in SA. Multidisciplinary and intersectoral interventions are urgently required to raise awareness about the dangers of prenatal alcohol exposure and the devastating effect of FASD on the lives of children, families and communities.


Sujet(s)
Consommation d'alcool/épidémiologie , Développement de l'enfant , Troubles du spectre de l'alcoolisation foetale/épidémiologie , Anthropométrie , Enfant , Femelle , Troubles du spectre de l'alcoolisation foetale/diagnostic , Humains , Entretiens comme sujet , Dépistage de masse/méthodes , Grossesse , Prévalence , République d'Afrique du Sud/épidémiologie
3.
Occup Med (Lond) ; 64(2): 95-103, 2014 Mar.
Article de Anglais | MEDLINE | ID: mdl-24477500

RÉSUMÉ

BACKGROUND: Although ageing workers face specific health and safety concerns, conflicting evidence exists regarding the effects of age on workplace injury rates and workers' compensation claims. AIMS: To examine injury and workers' compensation claim rates by age and injury type in an aluminium smelter over a 9-year period. METHODS: Routinely collected data for workplace injuries and workers' compensation claims were retrieved for the period from 1997 to 2005. RESULTS: The study included a total of 709 workers who experienced 2281 at-work injuries and submitted 446 claims. In 1997, 16% of employees were aged 50 or over; by 2005 that proportion had more than doubled to 35%. Injury and claim rates in all age groups did not change significantly during this period. Workers younger than 30 years of age had the highest injury rates, with differences most significant for injuries other than sprains and strains. Claim rates were not significantly different across age groups. CONCLUSIONS: These findings do not provide evidence to support the notion that older workers sustain more injuries and are more likely to claim compensation for their injuries. Our findings demonstrate that in this workplace, older workers were able to maintain their ability to work safely. This contrasts with the finding that younger workers had the highest injury and claim rates. While adapting to the needs of an ageing workforce, employers should not lose sight of the need to nurture a strong culture of working safely among their youngest workers.


Sujet(s)
Métallurgie , Indemnisation des accidentés du travail/statistiques et données numériques , Adulte , Facteurs âges , Australie , Humains , Adulte d'âge moyen
4.
S Afr Med J ; 103(6): 402-5, 2013 Mar 18.
Article de Anglais | MEDLINE | ID: mdl-23725961

RÉSUMÉ

BACKGROUND: Fetal alcohol syndrome (FAS) is common in parts of South Africa; rural residence is a frequently cited risk factor. We conducted a FAS school prevalence survey of an isolated rural community in a West Coast village of Western Cape Province, so obtaining the first directly measured rate, focusing specifically on a South African rural area, of FAS and partial FAS (PFAS). METHODS: The study area (Aurora village), a community of about 2 500 people in a grain-producing region, has one primary school. All learners were eligible for study inclusion. Initial anthropometry screening was followed by a diagnostic stage entailing examination by a dysmorphologist for features of FAS, neurodevelopmental assessment, and an interview assessing maternal alcohol consumption. RESULTS: Of 160 learners screened, 78 (49%) were screen-positive, of whom 63 (81%) were clinically assessed for FAS. The overall FAS/PFAS rate among the screened learners was 17.5% (95% confidence interval 12.0 - 24.2%), with 16 (10.0%) children having FAS and 12 (7.5%) PFAS. High rates of stunting, underweight and microcephaly were noted in all learners, especially those with FAS or PFAS. Five (18%) mothers of affected children were deceased by the time of assessment. CONCLUSION: We describe very high rates of FAS/PFAS in an isolated rural part of the Western Cape that is not located in a viticultural region. Our study suggests that the prevalence of FAS may be very high in isolated communities, or in particular hot-spots. It adds to the growing evidence that FAS/PFAS is a significant, and underestimated, health problem in South Africa. Expanded screening and surveillance programmes, and preventive interventions, are urgently needed.


Sujet(s)
Troubles du spectre de l'alcoolisation foetale/épidémiologie , Adolescent , Loi du khi-deux , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Entretiens comme sujet , Mâle , Grossesse , Prévalence , Facteurs de risque , Population rurale , République d'Afrique du Sud/épidémiologie , Statistique non paramétrique
5.
Afr J Psychiatry (Johannesbg) ; 14(4): 298-305, 2011 Sep.
Article de Anglais | MEDLINE | ID: mdl-22038428

RÉSUMÉ

OBJECTIVE: To describe the extent and nature of developmental delay at different stages in childhood in a community in South Africa, with a known high rate of Fetal Alcohol Spectrum Disorder (FASD). METHOD: cohort of infants, clinically examined for FASD at two time periods, 7-12 months (N= 392; 45 FASD) and 17-21 months of age (N = 83, 35 FASD) were assessed using the Griffiths Mental Developmental Scales (GMDS). RESULTS: Infants and children with FASD perform worse than their Non-FASD counterparts over all scales and total developmental quotients. Mean quotients for both groups decline between assessments across subscales with a particularly marked decline in the hearing and language scale at Time 2 (scores dropping from 110.6 to 83.1 in the Non-FASD group and 106.3 to 72.7 in the FASD group; P = 0.004). By early childhood the developmental gap between the groups widens with low maternal education, maternal depression, high parity and previous loss of sibling/s influencing development during early childhood. CONCLUSION: The FASD group show more evidence of developmental delay over both time points compared to their Non-FASD counterparts. Demographic and socio-economic factors further impact early childhood. These findings are important in setting up primary level psycho-educational and national prevention programmes especially in periurban communities with a focus on early childhood development and FASD.


Sujet(s)
Incapacités de développement/épidémiologie , Troubles du spectre de l'alcoolisation foetale/épidémiologie , Adolescent , Adulte , Répartition par âge , Consommation d'alcool/épidémiologie , Études de cohortes , Femelle , Troubles du spectre de l'alcoolisation foetale/diagnostic , Humains , Nourrisson , Mâle , Âge maternel , Adulte d'âge moyen , Grossesse , Effets différés de l'exposition prénatale à des facteurs de risque/épidémiologie , Répartition par sexe , République d'Afrique du Sud/épidémiologie , Jeune adulte
6.
Eur Respir J ; 38(6): 1393-7, 2011 Dec.
Article de Anglais | MEDLINE | ID: mdl-21659413

RÉSUMÉ

Light-emitting diode (LED) microscopy has recently been endorsed by the World Health Organization (WHO). However, it is unclear whether LED is as accurate and cost-effective as Ziehl-Neelsen (ZN) microscopy or mercury vapour fluorescence microscopy (MVFM) in tuberculosis (TB)-HIV-co-infected subjects. Direct and concentrated sputum smears from TB suspects were evaluated using combinations of LED microscopy, ZN microscopy and MVFM. Median reading time per slide was recorded and a cost analysis performed. Mycobacterial culture served as the reference standard. 647 sputum samples were obtained from 354 patients (88 (29.8%) were HIV-infected and 161 (26%) were culture-positive for Mycobacterium tuberculosis). Although overall sensitivity of LED compared with ZN microscopy or MVFM was similar, sensitivity of all three modalities was lower in HIV-infected patients. In the HIV-infected group, the sensitivity of LED microscopy was higher than ZN microscopy using samples that were not concentrated (46 versus 39%; p = 0.25), and better than MVFM using concentrated samples (56 versus 44; p = 0.5). A similar trend was seen in the CD4 count <200 cells · mL(-1) subgroup. Median (interquartile range) reading time was quicker with LED compared with ZN microscopy (1.8 (1.7-1.9) versus 2.5 (2.2-2.7) min; p ≤ 0.001). Average cost per slide read was less for LED microscopy (US$1.63) compared with ZN microscopy (US$2.10). Among HIV-TB-co-infected patients, LED microscopy was cheaper and performed as well as ZN microscopy or MVFM independent of the staining (ZN or auramine O) or processing methods used.


Sujet(s)
Infections opportunistes liées au SIDA/diagnostic , Microscopie/économie , Microscopie/méthodes , Tuberculose pulmonaire/diagnostic , Adulte , Co-infection/diagnostic , Analyse coût-bénéfice , Femelle , Humains , Mâle , Microscopie/instrumentation , Adulte d'âge moyen , Mycobacterium tuberculosis/isolement et purification , Sensibilité et spécificité , Expectoration/microbiologie , Coloration et marquage
7.
Intern Med J ; 36(3): 180-4, 2006 Mar.
Article de Anglais | MEDLINE | ID: mdl-16503953

RÉSUMÉ

BACKGROUND: Underground coal-mine workers suffer noise-induced hearing loss and continue working in the industry while having varying degrees of deafness. Few studies have researched the risk to safety arising from the loss of hearing. AIMS: This study is designed to investigate the possible association between hearing loss and accidents in the New South Wales underground coal-mining industry. METHODS: A study was conducted, gathering data over a 10-year period from 1994 to 2003, which identified 97 cases that have had accidents and 983 controls that have had no accidents. Hearing loss levels were noted and compared in the cases and controls. Multiple logistic regression was used to determine whether the variables were significant risk factors in the occurrence of accidents. RESULTS: Hearing loss levels in the total cohort varied from 0 to 54%. The proportion of cases with hearing loss appeared to be significantly higher in the young age group of <29 years than in the controls, but was not significantly different in the older age groups. CONCLUSIONS: This study indicates that workers who have lost up to 54% binaural high tone hearing and are older than 29 years do not appear to have an increased risk to safety when compared with workers who do not have hearing loss. However, workers in the young age group of <29 years who have high tone hearing loss may be at an increased risk of accident.


Sujet(s)
Accidents du travail/statistiques et données numériques , Industrie minière charbon , Surdité due au bruit/épidémiologie , Maladies professionnelles/épidémiologie , Santé au travail/statistiques et données numériques , Adulte , Facteurs âges , Études cas-témoins , Intervalles de confiance , Femelle , Études de suivi , Surdité due au bruit/diagnostic , Humains , Incidence , Adulte d'âge moyen , Nouvelle-Galles du Sud/épidémiologie , Maladies professionnelles/diagnostic , Odds ratio , Probabilité , Valeurs de référence , Études rétrospectives , Appréciation des risques , Indice de gravité de la maladie
8.
Med Biol Eng Comput ; 41(1): 101-6, 2003 Jan.
Article de Anglais | MEDLINE | ID: mdl-12572754

RÉSUMÉ

Victims of fetal alcohol syndrome (FAS) exhibit a unique facial phenotype that is emphasised in diagnosis. Among the characteristic facial features, several occurring in the region of the orbits can be evaluated quantitatively using distance measurements. An algorithm is described for automatic extraction and measurement of eye features from stereo photographs. The algorithm was applied to photographs of 46 six-seven-year-old children. The approach relies on peak and valley maps and integral projection functions, to locate the eyes and extract the iris, and genetic algorithms to fit cubic splines to the upper and lower eyelids. Measurements obtained automatically using this algorithm were compared with measurements obtained manually from the photographs. Mean absolute differences between automatic and manual measurements were less than 1 mm for palpebral fissure length (PFL) and interpupillary distance (IPD). Absolute differences were less than 1 mm for 80.4% of PFLs and 100% of IPDs. Inner canthal distance and outer canthal distance did not compare favourably with manual measurements.


Sujet(s)
Oeil/anatomopathologie , Faciès , Troubles du spectre de l'alcoolisation foetale/diagnostic , Photogrammétrie/méthodes , Algorithmes , Anthropométrie/méthodes , Enfant , Femelle , Humains , Phénotype , Grossesse
9.
Med Eng Phys ; 24(10): 683-9, 2002 Dec.
Article de Anglais | MEDLINE | ID: mdl-12460727

RÉSUMÉ

In diagnosing a child with fetal alcohol syndrome (FAS), anthropometric measurements of the face are conventionally performed by highly trained dysmorphologists using a hand-held ruler. This renders the screening of large populations of children for the facial features characteristic of FAS very time-consuming and costly. This study proposes a new, cost-effective, and non-intrusive method to measure in three dimensions the facial dysmorphology of children using stereo-photogrammetry. The face of each child is photographed in a control frame simultaneously by a pair of high-resolution digital cameras mounted 1.04 m from the child and 0.26 m apart. Software has been developed to calibrate the images and to compute the three-dimensional object-space coordinates of any point on the face from a measurement of the point on each of the images. The palpebral fissure lengths, inner canthal-, and interpupillary distances of 44 subjects were measured in this manner independently by two investigators and compared with measurements obtained by clinical specialists in the conventional manner. There was found to be no statistically significant difference between palpebral fissure lengths determined using the two techniques (paired Student's t-test p-values are 0.29 and 0.18, respectively). It has also been demonstrated that facial measurements can be performed with greater consistency from a pair of stereo photographs than direct measurements from live subjects.


Sujet(s)
Face/malformations , Troubles du spectre de l'alcoolisation foetale/diagnostic , Interprétation d'images assistée par ordinateur/méthodes , Imagerie tridimensionnelle/méthodes , Photogrammétrie/méthodes , Anthropométrie/méthodes , Enfant , Malformations oculaires/diagnostic , Faciès , Femelle , Humains , Biais de l'observateur , Grossesse , Reproductibilité des résultats , Sensibilité et spécificité
10.
J Med Genet ; 39(12): 893-9, 2002 Dec.
Article de Anglais | MEDLINE | ID: mdl-12471201

RÉSUMÉ

A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluorescence in situ hybridisation (FISH). Two overlapping genomic clones crossed the breakpoint on the der(6) chromosome, locating the breakpoint region between D6S1594 and D6S1250. Southern blot analysis allowed us to determine that the sorting nexin 3 gene (SNX3) was disrupted. Using Inverse PCR, we were able to amplify and sequence the der(6) breakpoint region, which exhibited homology to a BAC clone that contained marker D13S250. This clone allowed us to amplify and sequence the der(13) breakpoint region and to determine that no additional rearrangement was present at either breakpoint, nor was another gene disrupted on chromosome 13. Therefore, the translocation was balanced and SNX3 is probably the candidate gene for MMEP in the patient. However, mutation screening by dHPLC and Southern blot analysis of another sporadic case with MMEP failed to detect any point mutations or deletions in the SNX3 coding sequence. Considering the possibility of positional effect, another candidate gene in the vicinity of the der(6) chromosome breakpoint may be responsible for MMEP in the original patient or, just as likely, the MMEP phenotype in the two patients results from genetic heterogeneity.


Sujet(s)
Malformations multiples/génétique , Protéines de transport/génétique , Chromosomes humains de la paire 13/génétique , Chromosomes humains de la paire 6/génétique , Microcéphalie/génétique , Prognathisme/génétique , Translocation génétique/génétique , Protéines du transport vésiculaire/génétique , Épissage alternatif/génétique , Séquence d'acides aminés , Séquence nucléotidique , Protéines de transport/composition chimique , Cassure de chromosome/génétique , Clonage moléculaire , Analyse de mutations d'ADN , Femelle , Anomalies morphologiques congénitales du pied/génétique , Hétérogénéité génétique , Humains , Hybridation fluorescente in situ , Déficience intellectuelle/génétique , Mâle , Données de séquences moléculaires , Phénotype , Cartographie physique de chromosome , Sites d'épissage d'ARN/génétique , Nexines de tri , Protéines du transport vésiculaire/composition chimique
11.
Am J Hum Genet ; 69(4): 749-64, 2001 Oct.
Article de Anglais | MEDLINE | ID: mdl-11536079

RÉSUMÉ

To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these, 28 were novel variants (for a total of 43 PXE mutations known to date). Twenty-one alleles were missense variants, six were small insertions or deletions, five were nonsense, two were alleles likely to result in aberrant mRNA splicing, and two were large deletions involving ABCC6. Although most mutations appeared to be unique variants, two disease-causing alleles occurred frequently in apparently unrelated individuals. R1141X was found in our patient cohort at a frequency of 18.8% and was preponderant in European patients. ABCC6del23-29 occurred at a frequency of 12.9% and was prevalent in patients from the United States. These results suggested that R1141X and ABCC6del23-29 might have been derived regionally from founder alleles. Putative disease-causing mutations were identified in approximately 64% of the 244 chromosomes studied, and 85.2% of the 122 patients were found to have at least one disease-causing allele. Our results suggest that a fraction of the undetected mutant alleles could be either genomic rearrangements or mutations occurring in noncoding regions of the ABCC6 gene. The distribution pattern of ABCC6 mutations revealed a cluster of disease-causing variants within exons encoding a large C-terminal cytoplasmic loop and in the C-terminal nucleotide-binding domain (NBD2). We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of ABCC6.


Sujet(s)
Transporteurs ABC/génétique , Mutation/génétique , Pseudoxanthome élastique/génétique , Transporteurs ABC/composition chimique , Allèles , Séquences Alu/génétique , Séquence nucléotidique , Études de cohortes , Analyse de mutations d'ADN , Fréquence d'allèle/génétique , Haplotypes/génétique , Humains , Données de séquences moléculaires , Protéines associées à la multirésistance aux médicaments , Mutation faux-sens/génétique , Phénotype , Pseudogènes/génétique , Délétion de séquence/génétique
12.
Alcohol Clin Exp Res ; 25(5 Suppl ISBRA): 157S-163S, 2001 May.
Article de Anglais | MEDLINE | ID: mdl-11391066

RÉSUMÉ

This article represents the proceedings of a symposium at the 2000 ISBRA Meeting in Yokohama, Japan. The chairs were C. J. Peter Eriksson and Tatsushige Fukunaga. The presentations were (1) 4-Methylpyrazole as a tool in the investigation of the role of ADH in the actions of alcohol in humans, by Taisto Sarkola and C. J. Peter Eriksson; (2) ADH2 polymorphism and flushing in Asian populations, by Wei J. Chen, C. C. Chen, J. M. Ju, and Andrew T. A. Cheng; (3) Role of ADH3 genotypes in the acute effects of alcohol in a Finnish population, by Hidetaka Yamamoto, Kathrin Kohlenberg-Müller, and C. J. Peter Eriksson; (4) Clinical characteristics and disease course of alcoholics with different ADH2 genotypes, by Mitsuru Kimura, Masanobu Murayama, Sachio Matsushita, Haruo Kashima, and Susumu Higuchi; (5) ADH2 polymorphism, alcohol drinking, and birth defects, by Lucinda Carr, D. Viljoen, L. Brooke, T. Stewart, T. Foroud, J. Su, and Ting-Kai Li; and (6) ADH genotypes and alcohol use in Europeans, by John B. Whitfield.


Sujet(s)
Alcohol dehydrogenase/génétique , Consommation d'alcool/génétique , Troubles du spectre de l'alcoolisation foetale/génétique , Rougeur de la face/génétique , Polymorphisme génétique/génétique , Adulte , Aldehyde dehydrogenase/génétique , Aldehyde dehydrogenase, mitochondrial , Ethnies/génétique , Femelle , Génotype , Humains , Juif/génétique , Grossesse , /génétique
13.
Alcohol Clin Exp Res ; 25(5 Suppl ISBRA): 202S-206S, 2001 May.
Article de Anglais | MEDLINE | ID: mdl-11391072

RÉSUMÉ

This article represents the proceedings of a workshop at the 2000 ISBRA Meeting in Yokohama, Japan. The chairs were Kenneth R. Warren and Faye J. Calhoun. The presentations were (1) Epidemiological research on fetal alcohol syndrome (FAS) in the United States, by Philip A. May; (2) An overview of fetal alcohol syndrome in the Western Cape Province of South Africa, by Denis L. Viljoen and Ting-Kai Li; (3) Diagnostic perspectives of fetal alcohol and tobacco syndromes, by Harumi Tanaka; (4) FAS among pupils of special boarding schools and orphanages in Moscow, Russia, by Galina S. Marinicheva and Luther K. Robinson; and (5) Research on FAS and FAE in Germany: Update and perspectives, by Goetz Mundle.


Sujet(s)
Troubles du spectre de l'alcoolisation foetale/épidémiologie , Europe/épidémiologie , Femelle , Humains , Japon/épidémiologie , Mâle , Grossesse , République d'Afrique du Sud/épidémiologie , États-Unis/épidémiologie
14.
Alcohol Clin Exp Res ; 25(4): 557-62, 2001 Apr.
Article de Anglais | MEDLINE | ID: mdl-11329496

RÉSUMÉ

BACKGROUND: Even though fetal alcohol syndrome (FAS) has been reported in nonwestern nations, there is a paucity of information on neurodevelopment in the affected children from those nations. This article reports on a study of cognitive-motor development in a group of children with FAS from a community in the Western Cape Province in South Africa. METHODS: Thirty-four children with FAS and 34 controls from grade 1 (school entry level) classes participated. The two groups comprised Afrikaans-speaking children of mixed ancestry (South African Colored) and were matched for age, sex, and family income. The Griffiths Mental Development Scales were used to assess cognitive motor development of the participants. RESULTS: A multivariate analysis of covariance was performed to test the group effect on the combined Griffiths subscales adjusting for maternal education. The results showed a significant group effect. Follow-up analyses revealed that a combination of four subscales (Speech and Hearing, Performance, Practical Reasoning, and Eye and Hand Coordination) primarily contributed to the overall effect. Although there was a marginal effect on the Personal-Social subscale, no significant effect on the Locomotor (gross motor) subscale was found. CONCLUSIONS: The results showed that the FAS group was markedly deficient only in higher-order cognitive-motor competencies.


Sujet(s)
Troubles de la cognition/épidémiologie , Incapacités de développement/épidémiologie , Troubles du spectre de l'alcoolisation foetale/épidémiologie , Troubles des habiletés motrices/épidémiologie , Enfant , Troubles de la cognition/complications , Troubles de la cognition/psychologie , Incapacités de développement/complications , Incapacités de développement/psychologie , Environnement , Femelle , Troubles du spectre de l'alcoolisation foetale/complications , Troubles du spectre de l'alcoolisation foetale/psychologie , Humains , Mâle , Troubles des habiletés motrices/complications , Troubles des habiletés motrices/psychologie , Analyse multifactorielle , Tests neuropsychologiques , Grossesse , Facteurs socioéconomiques , République d'Afrique du Sud/épidémiologie
15.
Alcohol Clin Exp Res ; 25(12): 1719-22, 2001 Dec.
Article de Anglais | MEDLINE | ID: mdl-11781503

RÉSUMÉ

BACKGROUND: Fetal alcohol syndrome (FAS) is particularly common among the mixed-ancestry population of the Western Cape Province of South Africa and occurs at a frequency of 0.0392-0.0429 (39.2-42.9 of 1000) among 5- to 9-year-old school entrants. While FAS is clearly caused by an environmental insult, studies in twins and mice support a significant genetic contribution to risk for FAS. It is likely that the development of FAS following excessive alcohol exposure is influenced by genetic factors in both the mother and the child. Known polymorphisms of the alcohol dehydrogenase-2 (ADH2) gene resulting in isozymes with different alcohol oxidizing capacities were investigated as possible candidates for influencing the risk for FAS. METHODS: Genotyping was undertaken for the ADH2 locus in 56 FAS-affected children, their 56 mothers, and 178 control individuals of mixed ancestry from the same geographic region. The ADH2 alleles were analyzed for the three groups and the allele frequencies of the mother and FAS-affected children were independently compared with the control group. RESULTS: The ADH2*2 allele was found to be significantly more common in the control group than in the mothers of FAS-affected children (p = 0.025 +/- 0.004) and in the FAS subjects (p = 0.025 +/- 0.004). The ADH2*3 allele frequency was low and was not significantly different between the groups. CONCLUSION: The ADH2*2 allele is significantly more common in control individuals, suggesting that it may either confer protection or be a marker for a protective effect against FAS among individuals of mixed ancestry in the Western Cape Province of South Africa.


Sujet(s)
Alcohol dehydrogenase/génétique , Allèles , Troubles du spectre de l'alcoolisation foetale/génétique , Isoenzymes/génétique , Enfant , Enfant d'âge préscolaire , Femelle , Troubles du spectre de l'alcoolisation foetale/enzymologie , Troubles du spectre de l'alcoolisation foetale/épidémiologie , Fréquence d'allèle , Prédisposition génétique à une maladie , Génotype , Homozygote , Humains , Grossesse , République d'Afrique du Sud/épidémiologie
16.
Am J Public Health ; 90(12): 1905-12, 2000 Dec.
Article de Anglais | MEDLINE | ID: mdl-11111264

RÉSUMÉ

OBJECTIVES: This study determined the characteristics of fetal alcohol syndrome in a South African community, and methodology was designed for the multidisciplinary study of fetal alcohol syndrome in developing societies. METHODS: An active case ascertainment, 2-tier methodology was used among 992 first-grade pupils. A case-control design, using measures of growth, development, dysmorphology, and maternal risk, delineated characteristics of children with fetal alcohol syndrome. RESULTS: A high rate of fetal alcohol syndrome was found in the schools--40.5 to 46.4 per 1000 children aged 5 to 9 years--and age-specific community rates (ages 6-7) were 39.2 to 42.9. These rates are 18 to 141 times greater than in the United States. Rural residents had significantly more fetal alcohol syndrome. After control for ethnic variation, children with fetal alcohol syndrome had traits similar to those elsewhere: poor growth and development, congruent dysmorphology, and lower intellectual functioning. CONCLUSIONS: This study documented the highest fetal alcohol syndrome rate to date in an overall community population. Fetal alcohol syndrome initiatives that incorporate innovative sampling and active case ascertainment methods can be used to obtain timely and accurate data among developing populations.


Sujet(s)
Troubles du spectre de l'alcoolisation foetale/épidémiologie , Répartition par âge , Consommation d'alcool/effets indésirables , Consommation d'alcool/législation et jurisprudence , Études cas-témoins , Enfant , Enfant d'âge préscolaire , Collecte de données , Pays en voie de développement , Femelle , Troubles du spectre de l'alcoolisation foetale/diagnostic , Troubles du spectre de l'alcoolisation foetale/étiologie , Troubles du spectre de l'alcoolisation foetale/prévention et contrôle , Troubles de la croissance/étiologie , Humains , Mâle , Dépistage de masse , Troubles mentaux/étiologie , Évaluation des besoins , Équipe soignante , Surveillance de la population , Grossesse , Prévalence , Facteurs de risque , Santé en zone rurale/statistiques et données numériques , République d'Afrique du Sud/épidémiologie
17.
J Mol Med (Berl) ; 78(5): 282-6, 2000.
Article de Anglais | MEDLINE | ID: mdl-10954200

RÉSUMÉ

We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Here we report the identification of mutations in the gene encoding the transmembrane transporter protein, ABC-C6 (also known as MRP-6), one of the four genes located in the region of linkage, as cause of the disease. Sequence analysis in four independent consanguineous families from Switzerland, Mexico, and South Africa and in one non-consanguineous family from the United States demonstrated several different mis-sense mutations to cosegregate with the disease phenotype. These findings are consistent with the conclusion that PXE is a recessive disorder that displays allelic heterogeneity, which may explain the considerable phenotypic variance characteristic of the disorder.


Sujet(s)
Transporteurs ABC/génétique , Mutation , Pseudoxanthome élastique/génétique , Consanguinité , Femelle , Haplotypes/génétique , Homozygote , Humains , Mâle , Protéines associées à la multirésistance aux médicaments , Pedigree , Mutation ponctuelle , Polymorphisme de restriction
18.
J Mol Med (Berl) ; 78(1): 36-46, 2000.
Article de Anglais | MEDLINE | ID: mdl-10759028

RÉSUMÉ

We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p 13.1. Here we report further data on the fine-mapping and genomic structure of this locus. Haplotype analysis of informative PXE families narrowed the locus to an interval of less than 500 kb located between markers D16B9621 and D16S764. Three overlapping YAC clones were found to cover this region through YAC-STS content mapping. An overlapping BAC contig was then constructed to cover this interval and the surrounding region. About 80% of this chromosomal region has been fully sequenced using the BAC shotgun technique. Gene content and sequence analysis predicted four genes (MRP1, MRP6, PM5, and a novel transcript) and two pseudogenes (ARA and PKDI) within this interval. By screening a somatic cell hybrid panel we were able to precision-map the breakpoint of Cy185 and the starting point of a chromosomal duplication within 20 kb of BAC A962B4. The present data further refine the localization of PXE, provide additional physical cloning resources, and will aid in the eventual identification of the genetic defect causing PXE.


Sujet(s)
Chromosomes humains de la paire 16 , Pseudoxanthome élastique/génétique , Adulte , Animaux , Chromosomes artificiels de levure , Génotype , Haplotypes , Humains , Souris , Répétitions microsatellites , Pedigree , Cartographie physique de chromosome , Réaction de polymérisation en chaîne
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