Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.     

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08–1.15) and the 24–28 weeks premature delivery rate was 0.40% (95% CI=0.39–0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41–0.43 and 0.24% with 95% CI 0.23–0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study. Copyright © 2002 John Wiley & Sons, Ltd.     

Detrimental effects of carotenoid pigments: the dark side of bright coloration

Carotenoid pigments produce yellow, orange, and red integumentary color displays that can serve as reliable signals of health and condition. In many birds and fish, individuals gain competitive or mating advantages by ingesting and utilizing large quantities of carotenoid pigments. Carotenoid pigments serve as antioxidants, performing important functions as free-radical scavengers. The beneficial effects of carotenoid pigments are well documented, but rarely have researchers considered potential detrimental effects of high-level accumulation of carotenoids. We maintained American goldfinches (Carduelis tristis) on high- or low-carotenoid diets through molt and tested for damage to the liver and skeletal muscle. High intake of carotenoids had no measurable effect on liver enzymes but caused an increase in creatine kinase, an indicator of skeletal muscle breakdown, and a reduction in vertical flight performance, a measure of skeletal muscle integrity. The detrimental effects of high-level carotenoid accumulation were approximately equivalent to the negative effects of removing carotenoids from the diet. The adverse effects observed in this study have important implications for theories of the function and evolution of colorful plumage.     

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Here, we show that apparent segregation of null alleles at the OTC locus and flanking polymorphic loci mimicked false maternity or false paternity in three affected families. Based on these observations, we suggest giving consideration to gene deletion when dealing with segregation of null alleles in OTC deficiency.     

Parental awareness and perception for correct use of child restraint systems and airbags in Brazil

Objective: The objective of this study was to obtain information about the current knowledge and habits of parents who transport children in cars in Brazil.

Methods: A cross-sectional survey was conducted using specifically designed self-report questionnaires to parents of children attending a private pediatric office in a town in southwest Brazil. Data were collected regarding children's age, gender, height, and weight and possession of an automobile child restraint system (CRS), its type, frequency and adequacy of use, and reasons for not possessing or not using the devices. Parents were asked whether their cars were equipped with airbags and about the use of the restraints in seats with airbags.

Results: We interviewed parents of 293 children transported in cars who met the criteria for use of a CRS. Children were younger than 1 year in 15.3% of the cases, between 1 and 4 years in 38.6%, and older than 4 in 46.1%. Cars were equipped with CRS in 78.5% of the cases, but in only 58% of the cases was the device proper for child's age and adequately installed in the seat. Among owners of the devices, 84.3% reported that they always used it. Reasons for infrequency were forgetting the device at home or in another car (6.4%), the child disliking the device (3.2%), or the false impression that the child was grown enough not to use it (3.2%)l 87.1% did not justify why they did not always use the CRS. Considering type of CRS, correct installation of the seat, and frequency of use, only 44.4% of children under 1 year, 69.9% of those 1 to 4 years, and 52.6% over age 4 were protected. Only 28.6% of the parents knew that children should never be positioned in a seat with active airbags.

Conclusion: Considering appropriateness for age, correctness of installation (in the back seat in the correct orientation), and frequency of use, only 50.85% (149/293) of the children were reported as always protected with a CRS. Children between 1 and 4 years were more likely to always use a CRS in this Brazilian survey. We were also able to identify an important gap in the knowledge about airbags among parents. Further efforts are needed to correct those distortions.     

Effects of work surface and task difficulty on neck–shoulder posture and trapezius activity during a simulated mouse task

Objectives. The purpose of this study is to evaluate the influence of the work surface and task difficulty on the head, upper back and upper arm postures and activity of the descending trapezius during a simulated mouse task. Methods. Healthy female university students (N?=?15) were evaluated. The work surface was positioned at elbow height (EH) and above elbow height (AEH) and the task difficulty was set at low (LD) and high (HD) levels. The postures were recorded by inclinometers. Trapezius activity was normalized by the maximum voluntary isometric contraction (MVIC). Results. Significantly higher head flexion was found at EH compared to the AEH condition, with an average difference of 2°–5° at the same difficulty level. The HD task significantly increased head (3°–6°) and upper back flexion (6°–7°) at the same table height. For upper arm elevation and trapezius activation, the AEH condition presented higher upper arm elevation (about 6°–8°) and trapezius activity (0.8–1.4% of MVIC), regardless of the difficulty level of the task. Conclusions. Head posture was influenced by the table height and task difficulty; the upper back posture by high difficulty; and upper arm posture and trapezius activity were only influenced by table height.     

Psychosocial and ergonomic survey of office and field jobs in a utility company

Introduction. The effect of different kinds of work on the psychosocial assessment of workers under the same management and organizational environment is investigated. Methods. A voluntary assessment in a utility company was carried out using the short version of the Copenhagen psychosocial questionnaire (CoPsoQ) on two occasions, 1.5 years apart. Initially, 25 office workers (11 men and 14 women) participated, while 14 of those workers (8 women and 6 men) participated in the second assessment together with 32 field workers. The sewage, water treatment and maintenance workers, totaling 32 men, also participated in a field ergonomics assessment using the Washington State Department of Labor and Industries field work ergonomic checklist. Results. The longitudinal outlook was fairly stable, with sustained severe scores in many CoPsoQ subscales and intensification of severity of workers’ control over work and esteem for men. A significantly higher esteem score resulted for field rather than office workers. Workers subjected to foul odors showed similar severity of psychosocial factors. Discussion. For most psychosocial dimensions, the organizational design and management system in place, as well as the overall cultural environment in which it operates, create a much stronger and more decisive impact than job-specific factors.     

Levels of heavy metals in blue whiting caught from the eastern Black Sea area of Turkey

This paper presents data on the concentrations of 5 metals, copper (Cu), cadmium (Cd), iron (Fe), zinc (Zn) and lead (Pb) in Blue Whiting sampled from the Eastern Black Sea coast of Turkey. The highest metal concentrations of Cu, Cd, Fe, Zn and Pb were recorded in Blue Whiting with the values of 2.71, 0.601, 14.137, 15.322 and 1.078 μg g^‐1 dry weight, respectively. On average the metal concentrations in Blue Whiting followed the order of Zn > Fe > Cu > Pb > Cd. Temporal differences of concentrations of these metals were significant (p < 0.05). Spatial fluctuations of Cu, Cd, Fe, Zn and Pb concentrations in Blue Whiting were also significant (p < 0.01). It was found that the concentrations of Cu, Cd, Fe, Zn and Pb in the muscle in Blue Whiting were below the limit of Public Health Regulation in Turkey.     

Biological treatment of a synthetic gold milling effluent

This paper reports on biological sludge acclimatisation and the results concerning the removal of free cyanide, thiocyanate and metallocyanides (copper, iron and zinc) from a synthetic gold milling effluent. The experiments were carried out in a continuous bench-scale bioreactor, and the experimental set-up consisted of two identical units, one of which served as control. The acclimatisation of the biomass was based on a stepwise procedure, in which the proportion of synthetic solution in the influent was gradually increased. The reactors were fed with a mixture of synthetic effluent and sewage, and the treatment efficiency was evaluated through the monitoring of the following parameters: chemical oxygen demand (COD), free cyanide, thiocyanate, copper, iron and zinc concentrations. A well adapted microbial consortium was obtained at the end of the acclimatisation period, which was able to remove more than 95% of free cyanide, thiocyanate, copper and zinc, originally found in the influent. These removal efficiencies were obtained when the reactor was operated with a hydraulic retention time (HRT) of about 8 h. The performance results of experiments carried out with lower HRT (5 h) and higher dissolved oxygen (DO) concentration (6.5 mg litre(-1)) are also presented and discussed in this study.     

Levels and trends of PCDD/Fs and PCBs in camel milk (Camelus bactrianus and Camelus dromedarius) from Kazakhstan

To date, despite the fact it represents a very important part of the national dairy production, no data are available concerning the concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), and polychlorinated biphenyls (PCBs) in camel milk from the Republic of Kazakhstan. Selected PCDDs, PCDFs, and PCBs were measured in pools of milk from camels (n=15) located in various places of Kazakhstan (Almaty, Atyrau, Aralsk, Shymkent) and sampled at two different seasons for two different species (Camelus bactrianus and Camelus dromedarius). Non-dioxin-like (NDL-)PCB concentrations (6.3±2.7 ng g(-1) fat, median 5.1 ng g(-1) fat, range 0.6-17.4 ng g(-1) fat) were far below the maximum value of 40 ng g(-1) fat proposed by the EU. Dioxin-like (DL-)PCB concentrations (1.7±0.7 ng g(-1) fat, median 1.5 ng g(-1) fat, range 0.3-4.2 ng g(-1) fat) and the NDL-PCB to DL-PCB ratio (4.3) were similar to what is reported in EU for cow-based dairy products. PCB 52 and PCB 101 appeared to be proportionally more present in Kazakh camel milk samples (>60% of the sum of the 6 indicator NDL-PCBs) than in European cow milk samples (<10% of the sum of the 6 indicator NDL-PCBs), indicating possible differences in the route of exposure to PCBs in Kazakhstan. PCB 105 and PCB 118 appeared to be present at higher concentrations in camel milk (>80% of the sum of the 12 DL-PCBs). PCB 105, PCB 118 and PCB 156 were the major congeners for DL-PCBs, accounting for 92% of the sum of concentrations of DL-PCBs (88% for Belgian cows). In terms of TEQ, PCB 126 and PCB 118 are the major contributors and represent, respectively, 80% and 14% of the DL-PCB TEQWHO05 concentrations. No significant interracial or geographical trends were observed for NDL- and DL-PCB profiles. However, concentrations of all DL-PCBs appeared to be significantly higher for samples collected in Atyrau region. 2,3,7,8-TCDD level (mean 0.08±0.07 pg g(-1) fat, median 0.08 pg g(-1) fat, range 0.00-0.18 pg g(-1) fat, 60%>LOQs) were very low for all samples and 2,3,4,7,8-PeCDF was the major contributor (27%) to the PCDD/F TEQWHO05. Considering the total TEQWHO05 (sum of DL-PCBs and PCDD/Fs), DL-PCB and PCDD/F contributed for 73% and 27%, respectively. A decrease of only 1% of the total TEQ was observed when using the TEFWHO05 scale instead of the TEFWHO98 scale. Two samples collected in the region of Atyrau exceeded the EU maximum level value of 6.00 pg TEQWHO98 g(-1) fat (6.4 pg TEQWHO05 g(-1) fat and 6.9 pg TEQWHO05 g(-1) fat). Both samples exceeded the EU action level for the sum of DL-PCBs. Based on the fact that camel milk is used to prepare popular traditional fermented drinks like shubat, this suggests that the human exposure in the Caspian Sea region of Atyrau should be expected to be higher than in the other regions studied here.