Diagnostic and genetic overlap of three common mental disorders in structured interviews and health registries.

OBJECTIVE: To investigate whether diagnostic data from structured interviews, primary care and specialist care registries on major depressive disorder (MDD), anxiety disorders (AD) and alcohol use disorder (AUD) identify the same individuals, yield comparable comorbidity estimates and reflect the same genetic influences. METHODS: Registry data from primary and specialist care were available for 11 727 twins and diagnostic interview data for 2271 of these. We used logistic regression analyses and biometric modelling to investigate the overlap between the data sources. RESULTS: Most individuals meeting diagnostic criteria at interview were not registered with a corresponding diagnosis. The rates of registration were higher for MDD (36% in primary care and 15% in specialist care) and AD (21% and 18%) than for AUD (3% and 7%). Comorbidity estimated as odds ratios, but not as polychoric correlations, was higher in the registries than in the interviews. Genetic influences on the disorders were highly correlated across data sources (median r = 0.81), bordering unity for MDD and AD. CONCLUSION: Prevalence and comorbidity estimates differ between registries and population-based assessment. Nevertheless, diagnoses from health registries reflect the same genetic influences as common mental disorders assessed in the general population, indicating generalizability of aetiological factors across data sources.

Use of Fish Telemetry in Rehabilitation Planning, Management, and Monitoring in Areas of Concern in the Laurentian Great Lakes.

Freshwater ecosystems provide many ecosystem services; however, they are often degraded as a result of human activity. To address ecosystem degradation in the Laurentian Great Lakes, Canada and the United States of America established the Great Lakes Water Quality Agreement (GLWQA). In 1987, 43 highly polluted and impacted areas were identified under the GLWQA as having one or more of 14 Beneficial Use Impairments (BUIs) to the physical and chemical habitat for fish, wildlife and humans, and were designated as Areas of Concern (AOC). Subnational jurisdictions combined with local stakeholders, with support from federal governments, developed plans to remediate and restore these sites. Biotelemetry (the tracking of animals using electronic tags) provides information on the spatial ecology of fish in the wild relevant to habitat management and stock assessment. Here, seven case studies are presented where biotelemetry data were directly incorporated within the AOC Remedial Action Plan (RAP) process. Specific applications include determining seasonal fish-habitat associations to inform habitat restoration plans, identifying the distribution of pollutant-indicator species to identify exposure risk to contamination sources, informing the development of fish passage facilities to enable fish to access fragmented upstream habitats, and assessing fish use of created or restored habitats. With growing capacity for fish biotelemetry research in the Great Lakes, we discuss the strengths and weaknesses of incorporating biotelemetry into AOC RAP processes to improve the science and practice of restoration and to facilitate the delisting of AOCs.

Re-evaluation of the dysequilibrium syndrome.

OBJECTIVES: To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS: Six patients from five families underwent neurological examination and magnetic resonance imaging (MRI) of the brain. Blood samples from the patients were screened for serum carbohydrate-deficient transferrin (s-CDT; disialotransferrin). The very-low-density lipoprotein receptor (VLDLR) gene was sequenced. RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature. Mental retardation and strabismus, characteristic for DES-VLDLR, were inconsistent among our patients. None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. MRI findings were variable from a normal cerebellum to marked cerebellar hypoplasia or atrophy and signal intensity changes. One patient was diagnosed with congenital disorder of glycosylation type 1a (CDG-1a). CONCLUSIONS: DES was originally coined on mainly clinical grounds before MRI and specific genetic tests were available, both of which should be used to arrive at an appropriate diagnosis.

Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia.

To study the prevalence of beta-thalassaemia and sickle cell traits in the Al-Qassim region, Saudi Arabia. The Ministry of Health of Saudi Arabia launched a countrywide programme in February 2004 to allow all Saudis planning marriage to screen their carrier status for beta-thalassaemia and sickle cell traits. This population survey of mandatory premarital screening for beta-thalassaemia and sickle cell heterozygotes provided an opportunity to estimate the prevalence of these traits in the Al-Qassim region. From February 2004 to October 2006 all individuals attending for premarital screening in that region were screened. For each subject, venous blood was taken to determine complete blood count, red cell indices and hemoglobin electrophoresis. Subjects were considered to have beta-thalassaemia trait if mean corpuscular volume was <79 fl, mean corpuscular haemoglobin <27 pg and haemoglobin A2 level >3.5%; and sickle cell trait if sickle cell haemoglobin amounted to 35 to 45% and sickling test was positive. Totally 38,153 individuals were screened during the study period. The prevalence rates of beta-thalassaemia and sickle cell traits were 0.165% (63/38,153) and 0.252% (96/38,153) respectively. Compared with results of previous studies carried out in this region on the same issue, the prevalence of sickle cell heterozygotes seems to be the same but the frequency of beta-thalassaemia carriers is substantially higher. Screening for carriers both of beta-thalassaemia and sickle cell traits is important to prevent at risk marriages through genetic counseling.

A follow-up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county.

BACKGROUND: In the planning of services and health care for individuals with intellectual disability (ID), information is needed on the special requirements for habilitation and medical service and associated disabilities. MATERIAL AND METHODS: An unselected consecutive series of 82 adult persons with ID was studied. The medical examination consisted of the individual's health condition, associated impairments and disabilities. Medical and habilitation services and support were studied. RESULTS: The results indicated that 71% of the persons in the series had severe and 29% mild ID. Forty-seven per cent of the persons with severe ID and 35% of those with mild ID had one or more additional central nervous system (CNS) disabilities. Of the persons with ID, 99% had access to a family doctor and 84% attended regular health visits. Notably, half of persons were referred to a specialist examination as a consequence of their present medical examination. Half of the persons with mental health problems were previously undiagnosed and only a few of these had access to a psychiatrist. CONCLUSION: Our study clearly demonstrates the magnitude and importance of neurological and psychiatric impairments in ID. The findings suggest a strong need for multidisciplinary health service.

Combined chemical analyses and biomonitoring at Avedoere wastewater treatment plant in 2002.

Influent--effluent monitoring by comprehensive chemical analyses was conducted at the Avedoere wastewater treatment plant (WWTP) during 2002. In one programme, the same samples were tested for algal toxicity by the ISO 8692 method. Based on evaluation of 17 hazardous substances (including 7 heavy metals), there was a quite good agreement between calculated and measured toxic units. In another programme, influent--effluent monitoring for 11 pharmaceuticals and specific hormones showed high removal rates, except for sulphamethizol and furosemide. High removal is probably due to WWTP operation with long SRTs. Effluent biomonitoring of freshwater mussels showed only bioaccumulation for: diethylphthalate, LAS, EOX as well as Cr and Ni. Surprisingly, no bioaccumulation could be observed for 100 other specific organic compounds and 8 other heavy metals (including Hg, Cd and Pb).

Mild intellectual disability in children in Lahore, Pakistan: aetiology and risk factors.

BACKGROUND: One of the main objectives of studying intellectual disability (ID) in children is to explore its causes. A specific aetiological diagnosis is important in determining the prognosis, nature and extent of services needed to support affected children. METHODS: Aetiology and risk factors in mild ID were studied in a cohort of longitudinally followed children (6-10 years of age, n = 40) in four population groups in and around Lahore, Pakistan. RESULTS: The overall prevalence of mild ID was 6.2%. In 22% of the cases the onset of mild ID was prenatal with small for gestational age and multifactorial inheritance as the main underlying factors. During the postnatal period (28% of the cases), social deprivation and malnutrition were the major causes of ID. In a substantial proportion of the cases (50%), the cause of ID could not be traced. CONCLUSION: The present study indicates a clear relationship of mild ID with prenatal and postnatal malnutrition and social deprivation. Two independent variables, maternal illiteracy and small head circumference at birth, showed a clear association with the development of mild mental disability among children in the study population.

Effects of exposure duration of herbicides on natural stream periphyton communities and recovery.

To improve risk estimates for herbicides in streams, the sensitivity of natural periphyton communities to four herbicides (metribuzin, hexazinone, isoproturon, and pendimethalin) was examined in experiments including varying exposure duration and a recovery phase. Effect parameters included assimilation of 14C and concentration of diagnostic pigments as proxies for photosynthetic activity and algal group composition, respectively. The results indicated that isoproturon, metribuzin, and hexazinone affected the photosynthetic activity of periphyton at distinctly lower concentrations than the effect concentrations published for standard single-species growth-tests with phytoplankton species. Pendimethalin did not show effects on the photosynthetic activity of periphyton at the concentrations tested. The effect concentration (EC50) of isoproturon and metribuzin decreased by one to two orders of magnitude when the duration of exposure increased from 1 h to 24 h, while hexazinone had a stimulating effect on the photosynthetic activity of periphyton after 1 h exposure and inhibiting effect after 24 h exposure. The photosynthetic activity after exposure to metribuzin for 1, 2, 6, 18, 23, or 48 h recovered almost completely after 48 h in herbicide-free water. However, different periphyton groups responded differently to metribuzin exposure: Chlorophytes were severely affected by exposure and did not recover, whereas diatoms and especially cyanobacteria recovered well. Overall the study showed that the effects of herbicides on periphyton are strongly affected by the duration of exposure, and even short-term exposure may have distinct effects on the periphyton community.

Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study.

UNLABELLED: The aim of this study was to find the prevalence of mild mental retardation (MMR) in 6-10-y-old children in a prospectively followed cohort in Pakistan from four areas with different socioeconomic conditions. Retarded children were identified by a two-step method, comprising a household screening with the Ten Questions Screening in 649 families followed by clinical investigation and psychometric testing (WISC-R and Griffiths) of the 132 children found by the screening. The overall prevalence of MMR among 6-10-y-old children was 6.2%. The distribution of MMR was uneven, with 1.2% among children from the upper-middle class, 4.8% in the village, 6.1% in the urban slum and 10.5% in the poor periurban slum area. Additional impairments were found in 75% of the children with MMR, of which speech impairment was the most common. CONCLUSION: The prevalence of MMR was found to be higher in a developing country than in developed countries. It also seemed to be related to poor socioeconomic conditions, as the prevalence in the upper-middle class was comparable to figures from developed countries, while the prevalence in children from poor population groups was much higher.

Fate and effects of esfenvalerate in agricultural ponds.

The fate of esfenvalerate was investigated by sampling and chemical analysis after spraying of an artificial pond (25 g a.i./ha) and in the laboratory with [14C]esfenvalerate by trapping of 14CO2 and fractionation of the sediment. The effects were investigated on pelagic communities in enclosures in a natural lake and in the laboratory on surface (Cymatia coleoptrata) and sediment (Chironomus riparius) insects. The latter were used in sediment-plus-water and in water-only tests, measuring effects on emergence and mortality. The measurements in the artificial pond indicated exposure concentrations in the surface microlayer, water column, and sediment of 0.4 microgram/L, 0.05 microgram/L, and 9 micrograms/kg dry weight, respectively, two weeks after application. The degradation studies showed a limited mineralization (26.5%) of [chorophenyl-14C]esfenvalerate during 112 d. Part of the substance was transformed to water-soluble compounds (18.1%) or compounds attached to fulvic acids (26.2%), humic acids (14.2%), or nonextractable sediment constituents (8.8%). The formulated product Sumi-Alpha 5 FW caused 100% mortality to Cymatia coleoptrata after surface application of 0.13 g a.i/ha. Effects on zooplankton were recorded at 0.005 microgram/L of esfenvalerate. The 96-h median lethal concentration for first-instar larvae of Chironomus riparius was 0.13 microgram/L, whereas the delayed emergence lowest-observed-effect concentration was 0.8 microgram/L.

Novel use of a dual-zone restricted access sorbent: normal-phase solid-phase extraction separation of methyl oleate from polynuclear aromatic hydrocarbons stemming from semi-permeable membrane devices.

A normal-phase solid-phase extraction (SPE) method was developed utilizing a dual-zone restricted-access sorbent to separate methyl oleate from the 16 US Environmental Protection Agency priority-pollutant polynuclear aromatic hydrocarbons in a hexane matrix. This technique represents a new development in SPE methodology expanding the limited number of available normal-phase SPE sorbents. While based on a specific application (removal of methyl oleate from semipermeable membrane device extracts), this cleanup method could easily be adapted for other uses requiring the removal/isolation of methyl oleate and potentially related compounds.

The index of human insecurity.

PIP: In the past, human security has been endangered not only by military threats, but also of resource scarcity, rapid population growth, human rights abuses, and outbreaks of infectious diseases, environmental degradation, pollution, and loss of biodiversity. As a result, the Index of Human Insecurity (IHI) was developed as a classification system that distinguishes the perception of vulnerability and insecurity of different countries. In calculating IHI, the following steps must be used: 1) establishment of complete time series for indicators and countries; 2) standardization of data; and 3) classification of data and calculation of indexes. Indicators used in IHI include the environment, economy, society, and institutions. Furthermore, the indicators used actually define the meaning of human security, compare the relative levels of insecurity, and exclude the vulnerability to natural hazards and income distribution. Comparing the efficacy of using the IHI with Human Development Index, it indicated the transparency of IHI in identifying variability in human security; stronger theoretical base of IHI to both human security and development; and the efficacy of IHI in addressing the issue of perception. To end, policy implications and future applications of IHI indicate that despite the need for constant evaluation of the index, it demonstrates a potential for measuring sustainability, development and human security.^ieng

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

Sjögren-Larsson syndrome is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. In 1994 Sjögren-Larsson syndrome was mapped to chromosome 17, close to the genetic marker D17S805 in a study of 24 Swedish families. We have analysed 12 microsatellite markers in 10 additional non-Swedish families with Sjögren-Larsson syndrome originating from Germany, Lebanon, Spain and Canada. The results are consistent with earlier data and give further evidence of Sjogren-Larsson syndrome being a homogeneous disorder. Swedish soldiers were bivouacking in Germany during the 30-year war in the 17th century and it has been suggested that they could have introduced the Sjögren-Larsson syndrome gene to the German population. Haplotypes from 7 German families with Sjögren-Larsson syndrome were compared with earlier analysed Swedish haplotypes. No evidence of all German patients carrying the same mutation or the major "Swedish Sjögren-Larsson syndrome gene" was found.

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation. We report here the identification of 10 novel frataxin point mutations, and the detection of a previously described mutation (G130V) in two additional families. Most truncating mutations were in exon 1. All missense mutations were in the last three exons coding for the mature frataxin protein. The clinical features of 25 patients with identified frataxin point mutations were compared with those of 196 patients homozygous for the GAA expansion. A similar phenotype resulted from truncating mutations and from missense mutations in the carboxy-terminal half of mature frataxin, suggesting that they cause a comparable loss of function. In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. The incidence of optic disk pallor was higher in compound heterozygotes than in expansion homozygotes, which might correlate with a very low residual level of normal frataxin produced from the expanded allele.