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.
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.
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.
Reported prevalence rates ranged from 29 to 290 per 1 000 live births.
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.
Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system, characterised by ...dystrophic mineralization of connective tissues. It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6). Objective: To investigate the mutation spectrum of ABCC6 and possible genotype–phenotype correlations. Methods: Mutation data were collected on an international case series of 270 patients with PXE (239 probands, 31 affected family members). A denaturing high-performance liquid chromatography-based assay was developed to screen for mutations in all 31 exons, eliminating pseudogene coamplification. In 134 patients with a known phenotype and both mutations identified, genotype–phenotype correlations were assessed. Results: In total, 316 mutant alleles in ABCC6, including 39 novel mutations, were identified in 239 probands. Mutations were found to cluster in exons 24 and 28, corresponding to the second nucleotide-binding fold and the last intracellular domain of the protein. Together with the recurrent R1141X and del23–29 mutations, these mutations accounted for 71.5% of the total individual mutations identified. Genotype–phenotype analysis failed to reveal a significant correlation between the types of mutations identified or their predicted effect on the expression of the protein and the age of onset and severity of the disease. Conclusions: This study emphasises the principal role of ABCC6 mutations in the pathogenesis of PXE, but the reasons for phenotypic variability remain to be explored.
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).
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.
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.
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.
Background
To evaluate and classify image artefacts in optical coherence tomography (OCT) angiography (OCTA) of the choroid in a group of patients with macular diseases.
Design
Retrospective ...observational study.
Participants
Five patients with age‐related macular degeneration, three with central serous retinopathy, one with polypoidal choroidal vasculopathy and one with multiple evanescent white dot syndrome.
Methods
OCTA and OCT reflectivity (OCTR) maps were reviewed along with their fluorescein angiography and indocyanine green angiography. Sixty OCTA images (20 outer retina, 20 Sattler and 20 Haller layers) were graded for image artefacts by two examiners independently.
Main Outcome Measures
OCTA artefacts and their correlation with OCTR maps, angiography and OCT B‐scans.
Results
Artefacts (frequency) were classified into (i) motion (70–100%), (ii) fringe washout (100%), (iii) decorrelation projection (0–20%), (iv) masking and unmasking (50–65%) and (v) stromal decorrelation signal (100%). Motion artefact in OCTA is characterized by horizontal dark lines or bands not apparent on OCTR map. Fringe washout creates signal void within choroidal vessels because of fast blood flow. Decorrelation projection from retinal vasculature and choroidal new vessels above the Bruch's membrane are seen within the choroidal OCTA image. Masking and unmasking artefacts occur in regions of pigment epithelial detachment and atrophy. Decorrelation signals can also be seen in the choroidal stroma.
Conclusions
Our classification system of artefact in choroidal OCTA establishes a common terminology for clinical interpretation. This is important in enhancing our understanding of the principles of OCTA acquisition, and it also serves as a bench mark for reading centres.
This paper describes a life cycle model for the development of electronic equipment for use on board military aircraft in the South African context. The life cycle model presented consolidates the ...activities of systems engineering, safety and certification, and quality assurance. The life cycle model provides a clear-cut and comprehensive framework for the development process in order to streamline planning and control. Concepts fundamental to the definition of a development process are identified and explained, and a generalised life cycle model is derived. Applications of this life cycle model in the description of development processes for airborne electronic equipment are presented.
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.
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.
To examine ...injury and workers' compensation claim rates by age and injury type in an aluminium smelter over a 9-year period.
Routinely collected data for workplace injuries and workers' compensation claims were retrieved for the period from 1997 to 2005.
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.
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.
Objectives
To determine if gall bladder dysmotility occurs in dogs investigated for chronic altered appetite and to determine if gall bladder dysmotility warrants further investigation as a ...contributing factor to altered appetite.
Materials and Methods
Case series of dogs investigated for chronic gastrointestinal disease. Gastrointestinal clinical signs were assessed before and after a 6‐week hydrolysed protein diet. Gall bladder ejection fractions were determined at the end of the 6‐week hydrolysed protein diet as part of an investigation that included a full blood cell count, biochemistry, abdominal X‐rays and ultrasound. The gall bladder ejections fraction results of dogs with normal appetite were compared to dogs with general inappetence and dogs with diurnal inappetence in the morning.
Results
In this retrospective case series of 14 dogs, altered appetite was the most frequent and persistent clinical sign associated with chronic gastrointestinal disease. Nine dogs had suboptimal gall bladder function and this occurred in dogs with, and without, gravity‐dependent biliary sludge. Gall bladder function and volumes of dogs in this study were comparable to those of dogs with nongravity‐dependent gall bladder sludge or gall bladder mucoceles in other studies. There was an observable difference in gall bladder ejection fractions between groups defined by appetite but no statistically significant difference was present. Small sample sizes meant the effect size was large.
Clinical Significance
Gall bladder dysmotility and distension can occur in the absence of gall bladder sludge and mucocoeles in younger dogs. Gall bladder dysmotility requires further investigation as a potential contributing factor to altered appetite in dogs.
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