Prenatal diagnosis of thalassemia major by fetal blood analysis: Experience with 1000 cases

In this report we have summarized our experience with the prenatal diagnosis of β-thalassemia in 1000 pregnancies followed at least until 12 months after birth. In the majority of these cases, the thalassemia lesion was the nonsense mutation at the codon corresponding to amino acid 39, which produces the hematological phenotype of β-thalassemia. Fetal blood sampling was carried out by placental aspiration, by which a sufficient amount of fetal blood for analysis was obtained in the majority of cases (99 per cent). The fetal mortality associated with fetal blood sampling was 6·3 per cent. Those placental samples contaminated by maternal cells were successfully purified by Ørskov lysis. Fetal blood was analysed by globin chain synthesis on CM–52 columns, which gave reliable results. Two misdiagnoses (0·2 per cent) have been made of which one was due to a non-globin protein co-migrating with the β-chains while the other resulted from a misclassification of the type of thalassemia segregating in the family.     

Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

Markedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X-linked syndrome that is readily detectable by prenatal ultrasonography.     

First-trimester diagnosis of Meckel–Gruber syndrome by transabdominal sonography in a low-risk case

Meckel–Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12⁺² weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.     

Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization

We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister-Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post-mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha-satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.     

PXW型摆辗机摆动机构运动学问题初探

给出了PXW型摆辗机摆头运动机构的机构运动简图,并据此认为具有多种摆头运动轨迹之摆辗机摆杆轴线上除顶点以外的各点只能是作球面运动,因而以往在摆头运动轨迹分析中将其简化为平面杆系势必引入误差.注意到这一点将有助于摆辗机的结构设计和对摆辗加工中应力-应变的分析.     

Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case

A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.     

Bicycle helmet effectiveness is not overstated

Objective: The objective of this study was to discuss the challenges in estimating bicycle helmet effectiveness from case–control studies of injured cyclists and to estimate helmet effectiveness from cases and available exposure data.

Methods: Data were extracted from studies of cyclists in Seattle; Victoria and New South Wales, Australia; and The Netherlands. Estimates of helmet use were used as exposure to compute relative risks for Seattle and Victorian data. Cycling distance data are routinely collected in The Netherlands; however, these data cannot be disaggregated by helmet use, which makes it unsuitable for estimating helmet effectiveness. Alternative controls were identified from larger cohorts for the Seattle and New South Wales cases.

Results: Estimates of helmet effectiveness were similar from odds ratios (ORs) using hospital controls or from relative risks (RRs) using helmet use estimates (Seattle: OR = 0.339, RR = 0.444; Victoria: OR = 0.500, RR = 0.353). Additionally, the odds ratios using hospital controls were similar when controls were taken from a larger cohort for head injury of any severity (Seattle: OR = 0.250, alt OR = 0.257; NSW: OR = 0.446, alt OR = 0.411) and for serious head injury (Seattle: OR = 0.135, alt OR = 0.139; NSW: OR = 0.335, alt OR = 0.308). Although relevant exposure data were unavailable for The Netherlands, the odds ratio for helmet effectiveness of those using racing, mountain, or hybrid bikes was similar to other estimates (OR = 0.371).

Conclusions: Despite potential weaknesses with case–control study designs, the best available evidence suggests that helmet use is an effective measure of reducing cycling head injury.     

Road accident fatality risks for “vulnerable” versus “protected” road users in northern Ghana

Background: Road traffic injuries (RTIs) are a serious epidemic that claims more than a million lives across the globe each year. The burden of RTIs is particularly pronounced in Africa and other low- and middle-income countries. The unfavorable disparity of the burden of road trauma in the world is largely attributable to unsafe vehicles, lack of appropriate road infrastructure, and the predominance of vulnerable road users (VRUs) in developing countries. However, little research exists in northern Ghana to highlight the scale and risk of death among road users.

Objective: The objective of this research was to establish the relative risk of death among road users in northern Ghana.

Methods: Crash data from police reports between 2007 and 2011 were analyzed for the Upper Regions of Ghana. Conditional probabilities and multivariable logistic regression techniques were used to report proportions and adjusted odds ratios (AORs), respectively.

Results: Generally, crashes in northern Ghana were extremely severe; that is, 35% of all injury related collisions were fatal. The proportion of fatal casualties ranged between 21% among victims of sideswipe collisions and 41% among pedestrians and victims of rear-end collisions. Though males were 6 times more likely to die than females overall, females were more likely to die as pedestrians (90% of all female casualty deaths) and males were more likely to die as riders/drivers (78% of all male casualty deaths). Pedestrians were 3 times more likely to die (odds ratio [OR] = 3.1; 95% confidence interval [CI], 2.4 to 4.1) compared with drivers/riders. Compared with drivers, the odds of death among cyclists was about 4 times higher (AOR = 3.6; 95% CI, 2.3 to 5.6) and about 2 times higher among motorcyclists (AOR = 1.6; 95% CI, 1.2 to 2.2). Compared with casualties aged between 30 and 59 years, children under 10 years and those aged 60 years and above were independently 2 times more likely to die in traffic collisions.

Conclusion: Provision of requisite road infrastructure is vital for the safety of VRUs in northern Ghana. Cycle paths and lanes (for cyclists) as well as sidewalks (for pedestrians) in particular will separate VRUs from motorists and improve their safety. Enforcement of traffic laws particularly regarding helmet use, speeding, and alcohol use will be beneficial. Introduction of the demerit points system in the enforcement of traffic regulations may have significant deterrent effects on road users who have the penchant for violating traffic regulations. Road safety education is also required to create responsible road users.     

‘It's off to work we go!’ Person–environment fit and turnover intentions in managerial and administrative mining personnel

Purpose. Person–environment fit asserts that incompatibility between an employee and aspects of their work environment is more likely to lead to occupational stress. The aim of this study was to investigate the impact that varying levels of person–environment fit had on key criterion outcomes including work engagement, work-related wellbeing and turnover intentions in a unique sample of managerial and administrative mining personnel. Method. An online self-report survey was distributed to an Australian mining organization by the company’s Chief Executive Officer. Anonymous survey links were sent to staff, of which 118 participants responded. The survey consisted of previously validated measures. Results. Hierarchical multiple regression analyses revealed significant relationships between abilities–demand fit, needs–supply fit and work engagement. Additionally, work-related wellbeing was significantly associated with increased person–organization fit and needs–supply fit. However, only needs–supply fit had a significant negative relationship with turnover intentions. Needs–supply fit significantly predicted all criterion variables. Conclusions. This study found that personal need fulfilment through work-related activities had the most significant impact on work-related wellbeing and work engagement. Personal need fulfilment through work also produced the most significant negative relationship with turnover intentions.     

Hand-arm vibration disorder among grass-cutter workers in Malaysia

Introduction. Prolonged exposure to hand-transmitted vibration from grass-cutting machines has been associated with increasing occurrences of symptoms and signs of occupational diseases related to hand–arm vibration syndrome (HAVS). Methods. A cross-sectional study was carried out using an adopted HAVS questionnaire on hand–arm vibration exposure and symptoms distributed to 168 male workers from the grass and turf maintenance industry who use hand-held grass-cutting machines as part of their work. The prevalence ratio and symptom correlation to HAVS between high and low–moderate exposure risk groups were evaluated. Results. There were positive HAVS symptoms relationships between the low–moderate exposure group and the high exposure group among hand-held grass-cutting workers. The prevalence ratio was considered high because there were indicators that fingers turned white and felt numb, 3.63, 95% CI [1.41, 9.39] and 4.24, 95% CI [2.18, 8.27], respectively. Less than 14.3% of workers stated that they were aware of the occupational hand–arm vibration, and it seemed to be related to the finger blanching and numbness. Conclusion. The results suggest that HAVS is under-diagnosed in Malaysia, especially in the agricultural sectors. More information related to safety and health awareness programmes for HAVS exposure is required among hand-held grass-cutting workers.