Fifty years of newborn screening

Newborn screening has evolved fast following recent advances in diagnosis and treatment of disease, particularly the development of multiplex testing and applications of molecular testing. Formal evidence of benefit from newborn screening has been largely lacking, due to the rarity of individual disorders. There are wide international differences in the choice of disorders screened, and ethical issues in both screening and not screening are apparent. More evidence is needed about benefit and harm of screening for specific disorders and renewed discussion about the basic aims of newborn screening must be undertaken.     

A Targeted Health Risk Assessment Following the Deepwater Horizon Oil Spill: Polycyclic Aromatic Hydrocarbon Exposure in Vietnamese-American Shrimp Consumers

Background: The Deepwater Horizon oil spill of 2010 prompted concern about health risks among seafood consumers exposed to polycyclic aromatic hydrocarbons (PAHs) via consumption of contaminated seafood.Objective: The objective of this study was to conduct population-specific probabilistic health risk assessments based on consumption of locally harvested white shrimp (Litopenaeus setiferus) among Vietnamese Americans in southeast Louisiana.Methods: We conducted a survey of Vietnamese Americans in southeast Louisiana to evaluate shrimp consumption, preparation methods, and body weight among shrimp consumers in the disaster-impacted region. We also collected and chemically analyzed locally harvested white shrimp for 81 individual PAHs. We combined the PAH levels (with accepted reference doses) found in the shrimp with the survey data to conduct Monte Carlo simulations for probabilistic noncancer health risk assessments. We also conducted probabilistic cancer risk assessments using relative potency factors (RPFs) to estimate cancer risks from the intake of PAHs from white shrimp.Results: Monte Carlo simulations were used to generate hazard quotient distributions for noncancer health risks, reported as mean ± SD, for naphthalene (1.8 × 10^–4 ± 3.3 × 10^–4), fluorene (2.4 × 10^–5 ± 3.3 × 10^–5), anthracene (3.9 × 10^–6 ± 5.4 × 10^–6), pyrene (3.2 × 10^–5 ± 4.3 × 10^–5), and fluoranthene (1.8 × 10^–4 ± 3.3 × 10^–4). A cancer risk distribution, based on RPF-adjusted PAH intake, was also generated (2.4 × 10^–7 ± 3.9 × 10^–7).Conclusions: The risk assessment results show no acute health risks or excess cancer risk associated with consumption of shrimp containing the levels of PAHs detected in our study, even among frequent shrimp consumers.Citation: Wilson MJ, Frickel S, Nguyen D, Bui T, Echsner S, Simon BR, Howard JL, Miller K, Wickliffe JK. 2015. A targeted health risk assessment following the Deepwater Horizon Oil Spill: polycyclic aromatic hydrocarbon exposure in Vietnamese-American shrimp consumers. Environ Health Perspect 123:152–159; http://dx.doi.org/10.1289/ehp.1408684     

Advanced musculoskeletal physiotherapists in post arthroplasty review clinics: a state wide implementation program evaluation

Objective

To evaluate outcomes following a state-wide implementation of post arthroplasty review (PAR) clinics for patients following total hip and knee arthroplasty, led by advanced musculoskeletal physiotherapists in collaboration with orthopaedic specialists.

The effect of glucose levels on fetal birth weight: a study of Chinese gravidas in Tianjin, China

The relationship between maternal glucose intolerance and fetal birth weight remains, to a large extent, unknown in Chinese gravidas. From December 1998 to December 1999, 9471[corrected] women in six urban districts of Tianjin, China, underwent an initial screening using a 50-g, 1-h glucose load at 26-30 gestational weeks. Women with a serum glucose reading >or=7.8 mmol/l, were followed up for a 75-g, 2-h glucose tolerance test, which was interpreted using the 1998 World Health Organization's (WHO) criteria for diabetes. A total of 174 women had gestational diabetes mellitus. Complete data was collected in 170 women. Among them, 56 accepted diabetes management including self-home glucose monitoring, diet, and physical activity advice, and others received no treatment. The comparison group was 302 women with normal glucose tolerance (NGT). Glucose levels at the initial screening (partial R(2)=.0343, P<.0001), maternal weight gain during pregnancy (partial R(2)=.0915, P<.0001), and gestational week at delivery (partial R(2)=.0432, P<.0001) were determinants of fetal birth weight, controlling for maternal age, pregravid BMI, maternal stature, and other confounders. Both gestational diabetes mellitus (GDM) status and a positive screening but normal oral glucose tolerance test (OGTT) result were predictors of macrosomia (birth weight >or=4000 g). It concludes that maternal glucose levels correlate with fetal birth weight and a glucose level of 7.8 mmol/l or more at the initial screening is predictive of macrosomia in Chinese gravidas regardless of GDM status.     

Alcohol Use and Dependence among Employed Men and Women in the United States in 1988

This paper provides estimates of alcohol consumption and alcohol dependence among employed men and women in the United States. Data from the 1988 National Health Interview Survey indicate that the percentages of drinkers in white-collar occupations are higher than the percentages of drinkers in blue-collar occupations among both men and women; however, the men and women in blue-collar occupations who drink have a higher average daily consumption than drinkers in white-collar occupations. DSM-III-R criteria were used to classify respondents as alcohol-dependent. Consistent with an earlier survey of employed adults in Detroit, the prevalence of alcohol dependence is highest in certain blue-collar occupations (craftsmen, laborers, and service workers among men; machine operators, laborers, and service workers among women). Directions for further research on the occupational and drinking experiences of employed men and women are discussed.     

Hepatic iron overload in blacks and whites: a comparative autopsy study

OBJECTIVE: Genetic susceptibility to iron loading is an important factor in the development of iron overload in Africans. This suggests that persons of African descent may be at risk to develop iron overload with its attendant complications, but relatively little is known about hepatic iron overload among blacks. The aim of this study was to compare the prevalence, histological features, and clinical correlates of hepatic iron overload in a group of autopsied black and white veterans. METHODS: Hepatic iron concentrations (HIC) were determined on liver tissue from autopsies performed at the John Cochran Veterans Affairs Medical Center during the period 1993 to 1996. Clinical information was obtained from autopsy protocols. Sections from livers in which the HIC exceeded the upper limit of normal were examined histologically. RESULTS: Of 256 specimens, 99 were from blacks (39%), whereas 157 were from whites (61%). Thirty-one blacks (31%) had an elevated HIC versus 44 whites (28%) (ns). In the majority of these cases (18 blacks, 30 whites), the HIC was less than twice the upper limit of normal. Nine of 15 subjects with an HIC greater than twice the upper limit of normal and no evident cause of secondary iron overload were black. CONCLUSIONS: The prevalence of mild-to-moderate hepatic iron overload was similar in this group of black and white veterans. Because of the inherent limitations of autopsy studies, prospective assessment of iron stores in healthy blacks is needed to determine more accurately the prevalence and clinical significance of iron overload in this population.     

Effects of gender and age on esophageal biomechanical properties and sensation

OBJECTIVES: The effects of gender and age on human esophageal function is poorly defined. Our aim was to investigate the sensory perception and the biomechanical properties of the esophagus both at the smooth muscle and the striated muscle segments in age- and gender-matched healthy subjects. Eleven older individuals (five men and six women, aged 55-82 yr) and 11 younger healthy individuals (five male and six female, aged 22-45 yr) participated in this study. METHODS: Graded balloon distentions were performed at the striated muscle and the smooth muscle segments of the esophagus in a random order using impedance planimetry. Impedance planimetry facilitated simultaneous assessments of the biomechanical properties and sensory perception. RESULTS: We found that both at the striated and smooth muscle segments, the cross-sectional area, circumferential wall tension-strain relationship and the sensory thresholds were similar between men and women. In contrast, at both of these segments, the cross-sectional area was larger (p < 0.05), the circumferential wall tension-strain association had shifted significantly (p < 0.05) to the left (i.e., the wall was stiffer), and the median thresholds for discomfort and pain were higher (p < 0.05) in older subjects. The biomechanical properties and thresholds for sensory perception also varied between the two esophageal segments. CONCLUSIONS: Aging was associated with a larger lumen and a stiffer but less sensitive esophageal wall. Thus, aging but not gender may influence esophageal function.     

Issues in cross‐cultural validity: Example from the adaptation,reliability, and validity testing of a Turkish version of the Stanford Health Assessment Questionnaire

Objective

Guidelines have been established for cross‐cultural adaptation of outcome measures. However, invariance across cultures must also be demonstrated through analysis of Differential Item Functioning (DIF). This is tested in the context of a Turkish adaptation of the Health Assessment Questionnaire (HAQ).

Methods

Internal construct validity of the adapted HAQ is assessed by Rasch analysis; reliability, by internal consistency and the intraclass correlation coefficient; external construct validity, by association with impairments and American College of Rheumatology functional stages. Cross‐cultural validity is tested through DIF by comparison with data from the UK version of the HAQ.

Results

The adapted version of the HAQ demonstrated good internal construct validity through fit of the data to the Rasch model (mean item fit 0.205; SD 0.998). Reliability was excellent (α = 0.97) and external construct validity was confirmed by expected associations. DIF for culture was found in only 1 item.

Conclusions

Cross‐cultural validity was found to be sufficient for use in international studies between the UK and Turkey. Future adaptation of instruments should include analysis of DIF at the field testing stage in the adaptation process.

     

Systemic sclerosis and interstitial lung disease: a pilot study using pulse intravenous methylprednisolone and cyclophosphamide to assess the effect on high resolution computed tomography scan and lung function

OBJECTIVE: To document the effectiveness, including the longterm effect, of a course of intravenous (IV) pulses of methylprednisolone (MP) and cyclophosphamide (CYC) in patients with scleroderma (SSc) who had evidence of lung inflammation on high resolution computer tomographic (HRCT) scan of the chest. METHODS: Fourteen consecutive patients with SSc and lung involvement were treated with 6 pulses of IV MP (10 mg/kg) and IV CYC (15 mg/kg) given at 3-4 weekly intervals. HRCT scans and lung function tests were performed at baseline and after the 6th pulse. Further lung function tests were repeated at 12 months and annually thereafter. RESULTS: Modified Rodnan skin scores improved significantly by 35% from a median baseline score of 17 (IQR 14-26.5) to a posttreatment score of 13 (IQR 10.5-18.5; p = 0.0058). HRCT scan scores improved significantly (p = 0.04). Twelve of 13 patients experienced either improvement or stabilization of the HRCT score. Median DLCO and lung volumes remained stable during the first 12 months. After a median followup of 26 months (IQR 19-43), 67% of patients experienced deterioration in DLCO. Median deterioration was 23% (IQR 44-0.6), with the median rate of deterioration of the predicted value of the DLCO/month being 0.87% (IQR 1.24-0.02). The treatment was safe and well tolerated. CONCLUSION: This IV regimen stabilized lung disease in patients with SSc. When treatment was stopped, or reduced in intensity, a deterioration in lung function occurred in the majority of patients. Rate of deterioration of DLCO may be a useful marker for determining the intensity of treatment. These findings have implications for treating lung disease and designing clinical trials in patients with SSc.