bluuebunny/crossref_metadata_2025 huggingface dataset:
Proliferative kidney disease in Switzerland: current state of knowledge
Authors: Wahli T , Knuesel R , Bernet D , Segner H , Pugovkin D , Burkhardt‐Holm P , Escher M , Schmidt‐Posthaus H
Published: March 2003

This study presents an overview of the distribution of proliferative kidney disease (PKD) in wild and farmed fish in Switzerland based on two sources: (1) the results of routine diagnostic work at the National Fish Disease Laboratory, and (2) the results of a country‐wide survey for PKD. The first case of PKD in Switzerland was diagnosed in 1979 and since 1981, a few cases have been found every year. Affected species were rainbow trout, brown trout and grayling from rivers and fish farms. Most of the diseased fish were found in the lower altitude regions of the country (Swiss midlands). A seasonal distribution of the cases was evident: PKD‐positive fish occurred only from June to November withprominent peaks in August and September. Among infected fish all length classes were present, but the highest numbers of affected fish were found in the length classes <10 cm and 16–20 cm. The evaluation of the samples from a survey of the occurrence of PKD in 2000/2001 revealed a much broader geographical distribution of the infection than expected from routine diagnostic observations. Fish from 56 of 139 rivers analysed by histological examination were positive for parasites. Fish from 131 of these sites were examined macroscopically. Of these, trout from 45 sites showed gross alterations indicative for PKD. Most of the positive fish were found in the Swiss midlands north of the Alps. Fish from six of 65 fish farms investigated were found to be PKD‐positive by histopathological analysis, and in four of these cases fish could be identified as infected on the basis of gross examination.
An evaluation of current diagnostic tests for the detection of infectious salmon anaemia virus (ISAV) following experimental water‐borne infection of Atlantic salmon, Salmo salar L.
Authors: Snow M , Raynard R S , Murray A G , Bruno D W , King J A , Grant R , Bricknell I R , Bain N , Gregory A
Published: March 2003

Four commonly used diagnostic tests [reverse transcription polymerase chain reaction (RT‐PCR), indirect fluorescent antibody test (IFAT), virus culture and light microscopy] were evaluated for their ability to detect infectious salmon anaemia virus (ISAV) or tissue pathology following experimental infection of Atlantic salmon. Fish were infected with ISAV by water‐borne exposure which mimics the route of natural infection. Forty‐five per cent of pre‐clinical fish tested yielded positive results by RT‐PCR for at least one of the organs tested (kidney, heart, gill, liver, blood). No significant difference was detected between organs in the number or time of first occurrence of positive result. Virus culture identified a total of 14% of pre‐clinical fish as ISAV‐infected. The presence of ISAV in heart tissue was particularly notable (13% of fish sampled) as was the inability to culture virus from spleen tissue. In the case of IFAT, 15% of fish sampled were positive, although tissue other than kidney proved unsuitable for use in this method. Only limited ISAV‐specific pathology was detectable by histological examination of fish prior to the onset of clinical disease. These findings reveal important information regarding the optimal choice of both tissue sample and diagnostic test for the routine diagnosis of ISAV.
Changes in serum phenylalanine after overnight fasts in youngsters with phenylketonuria
Authors: Ferguson C. , Morris A. M.
Published: March 2003

Background and aims: In patients with phenylketonuria (PKU), overnight fasting is associated with rises in serum phenylalanine (PHE) concentration. This is thought to result from catabolism of endogenous protein, which can be reduced by a bedtime snack accompanied by a dose of PHE‐free protein substitute (P/S). This study assessed the effectiveness of this strategy and whether any additional benefit was conferred by omitting PHE from the bedtime snack.

Methods: Data are presented for 18 PKU children (aged 9–16 years), studied over a 48‐h period whilst following diets of known composition. All the subjects had a bedtime snack accompanied by 25% of their P/S daily requirement. Half the subjects (Group X) had 25% of their daily PHE allowance in the bedtime snack, whilst the others (Group Z) ate only ‘PHE‐free’ foods at this time.

Results: Overnight changes in serum PHE levels were generally small for both groups; the mean serum PHE level changed very little overnight (Group X: 405 μmol L−1 post snack, 389 μmol L−1 prebreakfast; Group Z: 430 μmol L−1 post snack, 426 μmol L−1 pre breakfast).

Conclusion: Overnight changes in serum PHE levels can be minimized by a bedtime snack accompanied by a proportion of the daily protein substitute. Omission of PHE from the snack confers no extra advantage.
The folic acid message – can training make a difference?
Authors: Edwards L. , Wyles D.
Published: March 2003

Aim: To evaluate the effectiveness of training sessions for health professionals concerning folic acid in pregnancy.

Methods: Training sessions were held for Community Health Professionals to disseminate the current Department of Health recommendations about folic acid. The professions targeted were those who were more likely to come into contact with women of child‐bearing age, e.g. midwives, health visitors, practice nurses and family planning staff. Altogether 24 1‐h training sessions were held reaching 189 staff. Each session consisted of factual information, a brainstorming session about what pregnant women eat and a nutrition game involving calculating a day's intake of folic acid. Questionnaires were used to evaluate the level of knowledge before and after training. Feedback about the sessions was also obtained from participants.

Results: With every group trained there was an improvement in knowledge. The greatest change was that staff realized how difficult it is to consume the recommended amount of folic acid from food alone. Before the training session 42% of the health professionals thought that women could eat enough folic acid and after the training this had fallen to just 1%.

Conclusion: The training sessions produced positive changes. In addition, the process of evaluation, which is increasingly recognized as important for dietitians, was found to be rewarding.
An investigation of the face validity of a food intake questionnaire: lessons for dietary advice
Authors: Johnson B. , Hackett A. F. , Bibby A. , Cross J.
Published: March 2003

Aim: To assess the face validity of a food intake questionnaire (FIQ) by comparison to current dietetic practice exemplified by State Registered Dietitians (SRD) working in the North West of England.

Methods: 228 questionnaires were posted to 38 dietetic departments in the North West & North Wales branch of the British Dietetic Association. Dietitians were asked to name foods they considered most important when advising clients on four aspects of healthy eating: lowering sugar intake, lowering fat intake, increasing fibre intake and decreasing salt intake; the foods mentioned by most respondents in each category were ranked 1–10. If an FIQ item appeared in the list of ranked foods and was selected by more than 50% of the sample its inclusion in the FIQ was considered face valid.

Results: 56 foods out of the 80 ranked 1–10 in the eight categories appeared in the FIQ. Thirty‐one of these 56 foods were mentioned by more than 50% of dietitians when considering the four aspects of healthy eating; 27 (87%) of these were included in FIQ items. The study also revealed a surprisingly large number of foods to be mentioned by dietitians for each of the four categories. The list of foods mentioned was extensive; for example, 120 foods were mentioned when considering lowering fat intake.

Conclusions: The items chosen for the FIQ can be seen to agree closely with the opinions of practising SRDs, confirming its face validity. The results also suggest there is a need to debate the nature of dietary advice which is given to the public. The findings of the study suggest that translating nutritional guidelines into advice about which foods should be eaten is far from simple. The results may provide one reason for public confusion about healthy eating.
The development and testing of a food portion photograph book for use in an African population
Authors: Venter C. S. , MacIntyre U. E. , Vorster H. H.
Published: March 2003

Objective To develop and test a book of photographs of commonly eaten foods to be used as a visual aid in the description of portion sizes in a large cross‐sectional study on the health profile of Africans in transition (THUSA – Transition, Health and Urbanization in South Africa).

Setting Clinics in the North West Province of South Africa.

Participants One hundred and sixty‐nine adult African volunteers

Design Data on commonly eaten foods, preparation methods, recipes and portion sizes were collected in a pilot study. Colour photographs, taken of foods prepared by the researchers and measured into three or four portion sizes, were enlarged and put together in a book. The food portion photograph book (FPPB) was tested by presenting subjects with a portion of real food and asking them to estimate the portion size by matching it with one of the portion photographs.

Main results Of 2959 portions tested, 68% were accurately estimated (estimated weight within 10% of actual weight). Clearly defined solid foods were better estimated than foods that had an amorphous appearance. Accuracy of estimation was not affected by gender, age or education.

Conclusion The FPPB was accepted as a useful and convenient visual aid to estimate portion sizes in the cross‐sectional dietary intake study.
The alpha and gamma tocopherol levels in serum are influenced by the dietary fat quality
Authors: Öhrvall M. , Gustafsson I.‐B. , Vessby B.
Published: March 2003

Background

Alpha tocopherol in serum is thought to be of importance in protecting lipids against oxidation and low serum levels of alpha tocopherol has been suggested to increase the risk for coronary heart disease. However, low levels of gamma, rather than alpha, tocopherol have been found in patients with manifest coronary heart disease and in populations with a high incidence of coronary heart disease.

Aim

The aim of this study was to determine the tocopherol concentrations in serum after two diets with identical nutrient content but with different fat quality, enriched in butter and rapeseed oil‐based fats, respectively.

Method

Twenty moderately hyperlipidemic, healthy subjects (six females and 14 males) participated in this double‐blind cross‐over study, where two isoenergetic diets were given in a randomized order during two 3‐week periods, interrupted by a wash‐out period of 3–4 weeks.

Results

The lipid‐corrected serum concentrations of alpha and gamma tocopherol increased during the diet rich in rapeseed oil (by 7 and 23%, respectively) compared with on the baseline diet (P < 0.001), while these concentrations decreased (by 5 and 37%, respectively, P < 0.01) during the diet rich in saturated fat. The ratio between alpha and gamma tocopherol decreased significantly during the rapeseed oil diet (−23%, P < 0.01) and increased (+46%, P < 0.001) during the butter diet.

Conclusion

Alpha and gamma tocopherol levels in serum are influenced by the type of fat used in the diet. The most unexpected finding is that the lipid‐adjusted gamma tocopherol concentration significantly decreased by 37% during a diet rich in saturated fat with an increased ratio between alpha and gamma tocopherol, similar to the situation found in CHD patients.
Validation of a nutrition screening tool: testing the reliability and validity
Authors: Burden S. T. , Bodey S. , Bradburn Y. J. , Murdoch S. , Thompson A. L. , Sim J. M. , Sowerbutts A. M.
Published: March 2003

Background

The aim of this study was to validate a nutrition screening tool for use in South Manchester University Hospitals Trust.

Method

A sample of 100 patients was selected from medical, surgical and elderly care wards. To test the reliability of the screening tool, nurses and dietitians completed the screening tool on the same patient. These results were compared for interobserver error to determine whether the screening tool was reproducible with different observers. To ascertain if the screening tool identified malnutrition at ward level, four markers commonly used to assess nutritional status were collected. These included body mass index (BMI), mid upper arm circumference MUAC, percentage weight loss, and energy intake calculated from the patient’s first full day in hospital and expressed as a percentage of their estimated average requirements (EAR).

Results

There was a 95% level of agreement between nurses and dietitians within ±3. The screening tool had a sensitivity level of 78% and a specificity of 52% when compared to all patients who had one or more markers indicating malnutrition. This association was found to be statistically significant (P < 0.005).

Conclusion

The screening tool is reliable when completed by different observers and is valid for wide scale nutritional assessment. The screening tool identifies an acceptable number of patients who are malnourished but overestimates patients at moderate risk.
Women’s confidence to consume adequate servings of milk products: validation of a summated rating scale
Authors: Gulliver P. , Horwath C.
Published: March 2003

Objective

To design and validate a scale to assess women’s confidence to consume adequate servings of milk products.

Design

Using the electoral rolls as a sampling frame, two large random population surveys of women aged 25–70 years were conducted. The structure of the self‐efficacy scale was explored in the first survey of 500 women, and the component structure was refined and confirmed in an independent sample of 1200 women.

Results

The final single component self‐efficacy scale consisted of nine items to assess confidence to consume milk products in various situations. Confidence was higher in women who were already consuming adequate servings of milk products than in women who were not yet ready to consume adequate servings of milk products, providing construct validity for the scale.

Conclusion

The data provide preliminary support for the validity of the self‐efficacy scale. The potential usefulness of the scale in interventions designed to improve women’s milk product consumption is discussed.
An investigation of the validity and reliability of a food intake questionnaire
Authors: Johnson B. , Hackett A. , Roundfield M. , Coufopoulos A.
Published: March 2003

Aims

To evaluate the reliability and criterion validity of a food intake questionnaire (FIQ) designed for use in schoolchildren.

Methods

Study of reliability: 98 young people aged 13–14 years attending two schools in deprived areas of Liverpool completed the FIQ on three separate occasions over a 3‐month period.

Validity study

Ninety‐six young people (aged 11–13 years) completed the FIQ and 2 weeks later completed a 3‐day food diary (with interview).

Results

The FIQ gave consistent response on separate occasions over the 3‐month reliability study period. Levels of agreement were consistent between survey combinations. Analysis of variance showed no differences in mean score for food groups between surveys. Pearson correlations for mean scores estimated by separate FIQ ranged from 0.42 for fibre food group to 0.76 for negative marker food group; the majority of the correlations were above 0.5. The data suggested the FIQ should be able to detect a change of ±10% in eating habits. The validity study provided modest but significant Pearson correlations between energy intake, fat intake as a percentage of energy intake and sugars intake derived from 3‐day diaries, and mean scores for the fatty, sugary and negative marker food group assessed by the FIQ.

Conclusions

The results from both studies provide an indication of the FIQ’s reliability, and suggest it has criterion validity for fatty and sugary and negative marker foods.
Acceptability and tolerance of a low tyrosine and phenylalanine diet in patients with advanced cancer – a pilot study
Authors: Harvie M. N. , Campbell I. T. , Howell A. , Thatcher N.
Published: March 2003

Background

Low phenylalanine (phe) and tyrosine (tyr) diets limit tumour growth in animal models and may offer a novel cancer therapy. We studied the efficacy and acceptability of a low phe and tyr diet in patients with advanced cancer.

Methods

Patients with advanced metastatic melanoma (n=22) and metastatic breast cancer (n=15) were invited to follow a low phe and tyr diet (10 mg kg−1 phe and tyr per day) for 1 month. In those individuals who followed the diet for 1 month, we attempted to establish the effects on nutritional status (body weight, fat free mass, percentage body fat, serum albumin), immune cell function (white cell count, lymphocytes and neutrophils), plasma levels of phe–tyr and tryptophan and quality of life (Hospital Anxiety and Depression score).

Results

Only three of the 22 patients with metastatic melanoma and three of the 15 patients with metastatic breast cancer agreed to start the diet. All patients experienced problems and side‐effects and increases in anxiety and depression. There were declines in weight, with loss of fat and fat free mass but slight increases in white cell counts and neutrophils.

Conclusions

Low phe and tyr diets do not appear to be a viable treatment option for patients with advanced cancer.
Implementation research for ‘evidence‐based’ guideline development by dietitians: a pilot study to test an instrument
Authors: Wammes B. M. , Blom C. A. , Koelen M. , De Groot S. D. W. , Remijnse‐Meester W. T. A. , Van Staveren W. A.
Published: March 2003

Aim  To improve the quality of dietetic care, dietitians in the University Medical Center Utrecht (UMCU) are encouraged to develop and implement ‘evidence‐based’ guidelines. The aim of this pilot study was to develop and test a questionnaire for implementation research to monitor the process of developing and implementing these guidelines.

Methods  A questionnaire was developed and distributed to 15 dietitians, who have started developing an ‘evidence‐based’ guideline. The questionnaire measures determinants of dietitians' behaviour and the presence of conditions facilitating the development of a guideline. Cronbach's α with a cut‐off point of 0.7 was used to analyse the internal consistence between the items related to behavioural determinants. A panel of professionals such as a member of staff from the UMCU, a communication expert and project‐managers ensured the completeness of the questionnaire.

Results  The internal consistency was high (α > 0.7) between the items related to the determinants of behaviour. The questionnaire gives a structured overview of factors affecting positively or negatively the process of guideline development. Although dietitians have a positive behaviour towards guideline development, they perceived barriers related to the presence of conditions to develop a guideline.

Conclusion  We concluded that the applied questionnaire is appropriate for implementation research and has given a structured overview of factors that influence the development of dietetic guidelines by dietitans in the UMCU.
The Epilepsy Outcome Scale: the development of a measure for use with carers of people with epilepsy plus intellectual disability
Authors: Espie C. A. , Paul A. , Graham M. , Sterrick M. , Foley J. , McGarvey C.
Published: March 2003

This paper describes the development of a new scale for the assessment of epilepsy in people with learning disabilities. The scale was developed and validated in consultation with principal caters, and reflects their concerns about seizures, their impact and their treatment. Further testing of the scale revealed high internal consistency, testretest reliability and a robust factor structure. The scale can be completed in 5–10 min and may be useful as an outcome measure both in clinical practice and in research trials.
Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study
Authors: Weidmer‐Mikhail E. , Sheldon S. , Ghaziuddin M.
Published: March 2003

Few studies have examined the occurrence of chromosome abnormalities in a large sample of patients with autism and related pervasive developmental disorders (PDDs). In the present report, the authors examined a consecutive series of 92 children with PDDs (DSM‐III‐R; 75 males and 17 females). A cycogenetic examination, including growth in folate deficient medium, was performed in all cases. Three patients (3.2%) (two females and one male) showed chromosome abnormalities: deletion of the long arm of chromosome 8; tetrasomy of chromosome 15; and XYY syndrome. Only the subject who had tetrasomy I S met the criteria for autistic disorder, while the others were diagnosed as suffering from a PDD not otherwise specified (PDDNOS). Another patient showed an abnormal fragile site at Xq27 in three out of 100 cells. However, subsequent molecular studies did not confirm the presence of fragile‐X syndrome. These results suggest that chromosome abnormalities are uncommon in traditional autism and may be relatively more common in people with PDDNOS.
Responses to treatment for sex offenders with intellectual disability: a comparison of men with 1‐ and 2‐year probation sentences
Authors: Lindsay W. R. , Smith A. H. W.
Published: March 2003

The present study compares the responses to treatment of sex offenders with intellectual disability receiving 1‐ and 2‐year probationary sentences. There were seven subjects in each group. There were no differences between subjects with regard to age, IQ or previous offences. All subjects received group treatment which addressed issues of: denial, minimization and responsibility for the offence; harm done to the victim; behaviour consistent with offending; and victim awareness and confidentiality. The subjects were assessed on a standard questionnaire designed to assess attitudes consistent with sex offending. All subjects were convicted of either indecent exposure or offences against children. There was a significant difference between the groups at the end of the probation period with subjects sentenced to 2 years' probation showing greater improvement. Subjects receiving 1 years' probation retained a number of attitudes consistent with denial and minimization of their offence. Furthermore, follow‐up data underlined the poorer response to treatment for the 1‐year probation group in terms of re‐offending rates and assessment of attitudes consistent with sex offending. The authors recommend that a court order for a 1‐year period of probation with treatment is of little value when dealing with sex offenders with intellectual disability. Rather, a period of at least 2 years' probation with a treatment recommendation is suggested.
The latent variable structure of the Compulsive Behaviour Checklist in people with Prader–Willi syndrome
Authors: Bouras N. , Feurer I. D. , Dimitropoulos A. , Stone W. L. , Roof E. , Butler M. G. , Thompson T.
Published: March 2003

The presence and severity of compulsive behaviours may be evaluated via the Compulsive Behaviour Checklist (CBC) and this instrument has been successfully employed in people with intellectual disability. However, the applicability of the overall CBC scoring system, which entails tallying the number of behavioural categories represented (i.e. five) as well as the number of individual behaviours endorsed (i.e 25), is not known in the population with Prader–Willi syndrome (PWS). The present investigation examined the latent variable structure of the CBC in people with PWS in order to identify possible population‐specific scoring and interpretation considerations. The 25 behaviour‐specific items of the CBC were analysed for 75 people with PWS (44 females and 31 males) aged between 4 and 41 years (mean ± SD = 11.4 ± 9.4) via factor analysis with principal component extraction and equamax rotation. The most suitable solution was determined on the basis of multiple empirical criteria: (1) the scree test; (2) eigenvalues > 1.00; (3) salient loadings > 0.30; (4) the clarity of item assignment to a single latent dimension; (5) the internal consistency of the latent dimension(s) (coefficient α≥ 0.70); and (6) item‐total correlations between 0.20 and 0.79. In addition, solutions were examined with respect to psychological theory and previous research. A ‘general factor’ (i.e. single latent dimension) solution which adhered to all a priori criteria was indicated. Twenty‐four out of 25 items achieved salient loadings ranging from 0.46 to 0.80 on the general factor. The single item which failed to achieve salience, ‘deviant grooming‐skin picking’, exhibited both substantial unique variance (0.997) and moderate reliability (r= 0.59, P < 0.001). The internal consistency of the general factor was strong (α= 0.93) and all salient items were suitably correlated with the unit‐weighted total score (ritem‐total= 0.41−0.77). The traditional CBC scoring system, which includes tallying the number of categories represented, would not be relevant in this PWS sample. In addition, the recommended tallying of the number of individual behaviours endorsed does not reflect the empirically indicated notion of compulsive behaviour in this special population. These findings indicate that the 24 salient items should be scored as a unit‐weighted composite and that the score on the substantially unique item (skin picking) should be considered a separate measure when evaluating compulsive behaviours via the CBC in people with PWS.
Reliability, criterion‐related validity and qualitative comments of the Fourth Edition of the Stanford–Binet Intelligence Scale with a young adult population with intellectual disability
Authors: Dacey C. M. , Nelson W. M. , Stoeckel J.
Published: March 2003

The test–retest reliability and concurrent, criterion‐related validity of the Fourth Edition of the Stanford–Binet Intelligence Scale (SB‐IV) were examined in a young adult population with intellectual disability. Forty adults with mild to moderate intellectual disability (mean age = 20.8 years; SD = 1.8 years) were administered the SB‐IV and retested approximately 5 weeks later (mean = 33.4 days, SD = 1.2). The Vineland Adaptive Behavior Scale: Interview Edition (VABS) was completed by a reliable informant within one week of the SB‐IV testing. The test–retest reliability coefficients for the four SB‐IV area and composite scores were all significant (P 0.001). Individual subtest correlations tended to be lower but consistent across the two administrations. Moderate correlations were observed between the VABS composite and SB‐IV composite scores. The present results provide support for the temporal reliability of the SB‐IV and its concurrent, criterion‐related validity in an exceptional sample.
Cervical spondylarthrotic myelopathy with early onset in Down’s syndrome: five cases and a review of the literature
Authors: Bosma G. P. TH. , Van Buchem M. A. , Voormolen J. H. C. , Van Biezen F. C. , Brouwer O. F.
Published: March 2003

Progressive walking difficulties and bladder dysfunction may be attributed to Alzheimer disease or atlanto‐axial subluxation in people with Down’s syndrome (DS). The present authors describe five patients with DS suffering from the above symptoms as a result of cervical spondylarthrotic myelopathy. Clinical and radiological data were collected from all patients with DS who underwent surgery for cervical spondylarthrotic myelopathy at the Leiden University Medical Centre during the period between 1991 and 1995. Five patients with DS (four males and one female) were identified. Their mean age at diagnosis was 42 years. The main clinical features were weakness of the arms and legs, ataxic gait, hyperreflexia and bilateral Babinski signs. Radiological examination showed spondylarthrosis, compression of the spinal cord and myelomalacia. The mean delay in diagnosis was 3 years. All five individuals showed clinical stabilization after laminectomy. Cervical spondylarthrotic myelopathy seems a rather frequent disorder in DS, occurring at a relatively young age. Early diagnosis may prevent irreversible neurological deficits.
‘A woman’s heaven is at her husband’s feet’1? The dilemmas for a community learning disability team posed by the arranged marriage of a Bangladeshi client with intellectual disability
Authors: Hepper F.
Published: March 2003

The present case report describes the arranged marriage of a Bangladeshi woman with moderate intellectual disability. It explores some of the social and cultural factors influencing the decision to arrange her marriage, and the dilemmas this presents in terms of bridging cultural differences between professional and lay concerns.
Neurophysiological and neuropsychological differences related to performance and verbal abilities in subjects with mild intellectual disability
Authors: Muñoz‐Ruata J. , Gómez‐Jarabo G. , Martín‐Loeches M. , Martínez‐Lebrusant L.
Published: March 2003

The present study compared two group of subjects with intellectual disability. The 44 subjects in group 1 had equivalent verbal and performance IQs (67 and 64, respectively), while the 12 subjects in group 2 had an intellectual performance IQ which was ≥10 points above their verbal performance IQ (80 and 65, respectively). The second group showed an alpha peak at a higher frequency and an evoked potential closer to normality. The decrease in the voltage of the P300 wave in group 1 was especially significant. The cognitive evoked potentials were also different between the two groups.
Health status of mothers of adults with intellectual disability
Authors: Chen S. C. , Ryan‐Henry S. , Heller T. , Chen E. H.
Published: March 2003

A cross‐sectional survey was conducted to describe the health of mothers of adults with intellectual disability (ID), and the influence of the mother's and her adult child's characteristics on her health. The sample consisted of 108 mothers divided into mid‐life and later‐life groups. Four service agencies mailed SF‐36 forms and demographic questionnaires to their clients. The return rate from primary caregivers was 70%. The physical and the mental components of health of both groups of mothers were found to be similar to or better than those of their counterparts in the US national norms. Arthritis was found to influence the physical health of both groups of mothers. Employment was found to influence physical health of the mid‐life mothers, while family income was found to influence mental health of the later‐life mothers. The characteristics of adults with ID did not influence the mothers' health significantly. Mothers' caregiving for their adult children with ID might not be as detrimental to the mid‐life mothers' physical component of health as it might be to the later‐life mothers. Further studies are needed.
Cued recall in early‐stage dementia in adults with Down's syndrome
Authors: Devenny D. A. , Zimmerli E. J. , Kittler P. , Krinsky‐McHale S. J.
Published: March 2003

Background

Memory declines were evaluated with an adaptation of the Cued Recall Test (CRT) in 19 adults with Down's syndrome (DS) with mild or moderate intellectual disability (ID) who were at an early‐stage of dementia of the Alzheimer type (DAT), and their performance was compared to peer groups of 75 adults with DS and 66 adults with ID without DS who were not suspected of functional declines.

Method

The CRT consisted of a training period in which 12 items were presented, four at a time, with each item accompanied by a unique category cue. The testing phase consisted of three trials which generated two measures, a free recall score (FRS; spontaneous recall of the list of 12 items) and a total score (TS; FRS plus items recalled when the category cue was provided).

Results

It was found that a cut‐off value of ≤ 23 on the TS resulted in a sensitivity of 94.7% and a specificity of 93.9% with a positive predictive value of 81.9% when those individuals with DAT were compared to the participants with ID without DS. Eight of these individuals with DAT had relatively poor performance on the CRT compared to their healthy peers at a baseline when they were not suspected of functional declines, suggesting that memory declines can occur several years prior to the identification of DAT. In addition, 17 participants with DS without a diagnosis of DAT met the criterion for the cut‐off score. Longitudinal data and converging measures indicated that there was the possibility that 15 of these individuals are in a ‘pre‐clinical’ stage of decline.

Conclusion

The usefulness of the CRT as a screening test for early memory deficits for this population needs to be confirmed by following these participants for an extended period of time and by studying an independent sample.
The value of QT interval dispersion for identification of total mortality risk in non‐insulin‐dependent diabetes mellitus
Authors: Sawicki  , Kiwitt  , Bender  , Berger
Published: March 2003

Sawicki PT, Kiwitt S, Bender R, Berger M (Heinrich‐Heine University of Düsseldorf, Düsseldorf; Germany). The value of QT interval dispersion for identification of total mortality risk in non‐insulin‐dependent diabetes mellitus. J Intern Med 1998; 243: 49–56.

Objectives

To delineate different risk markers including the difference between the maximum and the minimum length of the QT interval in ECG corrected for heart rate (QTc dispersion) as predictors of total, cardiac and cerebrovascular mortality in NIDDM patients.

Design

Case‐control, follow‐up study until death or for a period of 15 to 16 years.

Setting

Tertiary care centre, University Hospital of Düsseldorf, Germany.

Subjects

216 unselected consecutive NIDDM patients.

Main outcome measures

Total, cardiac, and cerebrovascular mortality.

Results

During the follow‐up 158 (73%) patients died. In the Cox proportional hazards model QTc dispersion was the most important independent predictor of total mortality (risk ratio (RR) 3.3; difference for RR: 0.05 s1/2; P= 0.001). Additional independent risk markers were age, male sex, systolic blood pressure, diabetic retinopathy, micro‐ or macroproteinuria, total serum cholesterol and HDL cholesterol. The QTc dispersion was also an independent predictor of cardiac and cerebrovascular mortality.

Conclusions

The results of this long‐term follow‐up study indicate that QT dispersion in a routine ECG is a useful marker to identify NIDDM patients with a high mortality risk.
Primary gastrointestinal non‐Hodgkin's lymphoma in adults: a population‐based clinical and histopathologic study
Authors: Hansen P. B. , Vogt K. C. , Skov R. L. , Pedersen‐Bjergaard U. , Jacobsen M. , Ralfkiaer E.
Published: March 2003

. Hansen PB, Vogt KC, Skov RL, Pedersen‐Bjergaard U, Jacobsen M, Ralfkiaer E (Herlev Hospital, University of Copenhagen and Gentofte Hospital, University of Copenhagen, Denmark). Primary gastrointestinal non‐Hodgkin's lymphoma in adults: a population‐based clinical and histopathologic study. J Intern Med 1998; 244: 71–8.

Objectives

To analyse the clinical course and the histopathology of primary gastrointestinal non‐Hodgkin's lymphoma (GI‐NHL) in adult patients and to investigate a possible impact of Helicobacter pylori.

Design/setting

Retrospective study of all adult patients in Copenhagen county diagnosed during a

6‐year period with NHL.

Subjects

A total of 55 patients with GI‐NHL diagnosed during the period from 1985 to the end of 1990.

Results

Twenty‐eight patients had primary lymphoma in the stomach, 14 in the small intestine, 11 in the large intestine and two patients had multifocal involvement. The dominant presenting symptoms were abdominal pain, weight loss, diarrhoea, constipation and fatigue. Acute emergency problems such as severe haemorrhage or perforation at initial presentation were unusual. According to the revised European‐American lymphoma (REAL) classification, diffuse large B‐cell lymphoma was the most frequent histologic subtype comprising 53% of the cases.

Helicobacter pylori infection was documented in 15 of 25 evaluable patients (60%) with gastric lymphomas and was not associated with any specific histological subtype. Endoscopic procedures and barium X‐rays were the diagnostic approaches with highest sensitivity. In total, 30 patients (58%) achieved complete remission, 10 (19%) achieved partial remission, and 12 (23%) did not respond to treatment. The overall 5 year survival rate was 0.36 without statistically significant difference between the histological subtypes. Likewise the presence of Helicobacter pylori did not affect survival.

Conclusion

Primary GI‐NHL is a heterogeneous disease entity with considerable therapeutic controversies. No specific clinical or histological phenotype was associated with the presence of Helicobacter pylori.
Molecular genetic analysis of von Hippel–Lindau disease
Authors: Richards  , Webster  , Mcmahon  , Woodward  , Rose  , Maher
Published: March 2003

Richards FM, Webster AR, McMahon R, Woodward ER, Rose S, Maher ER (Birmingham University; Birmingham Women's Hospital, Birmingham; Addenbrooke's Hospital, Cambridge; Cambridge University, Cambridge, UK). Molecular genetic analysis of von Hippel–Lindau disease (Minisymposium: MEN & VHL). J Intern Med 1998; 243: 527–33.

Von Hippel–Lindau (VHL) disease is a dominantly inherited multisystem family cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal carcinoma, phaeochromocytoma, pancreatic islet cell tumours and endolymphatic sac tumours. In addition, renal, pancreatic and epididymal cysts occur. Morbidity and mortality from VHL disease can be reduced by the identification and surveillance of affected individuals and at‐risk relatives so that compli‐cations are diagnosed at an early presymptomatic stage. The detailed mapping and subsequent isolation of the VHL tumour suppressor gene has enabled molecular genetic analysis in families and patients with definite or possible VHL disease. Initially, linked DNA markers were used in informative families to modify individual risks and then to make appropriate alterations in surveillance programs. However, currently most DNA analysis involves the characterisation of germline mutations. World‐wide, mutations have been identified in almost 500 families (including 132 in our laboratory). These studies have revealed considerable heterogeneity both in the type and in the location of mutations within the VHL gene. In our experience, most recurrent mutations result from de novo mutations at hypermutable sequences, although a founder effect for the Tyr98His ("Black Forest') mutation has been reported in German and American families. Although many mutations are predicted to impair the ability of pVHL to combine with the elongin regulatory subunits, analysis of genotype–phenotype relationships suggests that the VHL protein has multiple and tissue specific functions. Calculation of tumour risks for different classes of VHL mutations has provided important prognostic information especially with respect to the likelihood of phaeochromocytoma. However, there is evidence that retinal involvement does not correlate with allelic heterogeneity, but that the variability in retinal angiomatosis is influenced by modifier gene effects. VHL gene mutation analysis also provides a basis for investigating the genetic basis of familial phaeochromocytoma and renal cell carcinoma, and apparently isolated retinal angiomas. Results to date suggest that a substantial proportion of patients with familial pheochromocytoma have VHL gene mutations but in contrast, most familial clusters of clear cell renal cell carcinoma (RCC) without evidence of VHL do not have germline VHL mutations.
Afternoon serum‐melatonin in sleep disordered breathing
Authors: Ulfberg  , Micic  , Strøm
Published: March 2003

Ulfberg J, Micic S, Strøm J (Sleep Laboratory, Department of Internal Medicine, Avesta Hospital, Sweden, Department of Biotechnology, Statens Seruminstitut, Copenhagen, Denmark and the Department of Anaesthesiology, Glostrup University Hospital, Copenhagen, Denmark). Afternoon serum‐melatonin in sleep disordered breathing. J Intern Med 1998; 244: 163–8.

Objectives

To study afternoon serum‐melatonin values in patients with sleep disordered breathing. Melatonin has a strong circadian rhythm with high values during the night‐time and low values in the afternoon. Sleep disordered breathing may change the circadian rhythm of melatonin which may have diagnostic implications.

Setting

The Sleep Laboratory, The Department of Internal Medicine, Avesta Hospital, Sweden, and the Department of Anaesthesiology, Glostrup University Hospital, Copenhagen, Denmark.

Subjects

We examined 60 consecutive patients admitted for sleep disordered breathing and 10 healthy non snoring controls. The patients underwent a sleep apnoea screening test having a specificity of 100% for the obstructive sleep apnoea syndrome (OSAS) using a combination of static charge sensitive bed and oximetry. Obstructive sleep apnoea syndrome was found in 49 patients, eight patients had borderline sleep disordered breathing (BSDB) and three patients were excluded due to interfering disease.

Main outcome measures

Patients and controls had an afternoon determination of serum‐melatonin. The Epworth Sleepiness Scale was used to score daytime sleepiness.

Results

In comparison with normal controls patients suffering from OSAS had significantly higher serum‐melatonin levels in the afternoon. However, as a diagnostic test for OSAS in patients with sleep disordered breathing serum‐melatonin showed a low sensitivity but a high specificity. The results indicate that breathing disorders during sleep in general affect pineal function.

Conclusions

Sleep disordered breathing seems to disturb pineal function. Determination of afternoon serum‐melatonin alone or together with a scoring of daytime sleepiness does not identify OSAS‐patients in a heterogeneous population of patients complaining of heavy snoring and excessive daytime sleepiness.
A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development
Authors: Boerma M. , Forsberg L. , Van Zeijl L. , Morgenstern R. , De Faire U. , Lemne C. , Erlinge D. , Thulin T. , Hong Y. , Cotgreave I. A.
Published: March 2003

Abstract. Boerma M, Forsberg L, van Zeijl L, Morgenstern R, de Faire U, Lemne C, Erlinge D, Thulin T, Hong Y, Cotgreave IA (Karolinska Institute and Karolinska Hospital, Stockholm; Lund University, Lund, Sweden. Washington University School of Medicine, MO, USA). A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development. J Intern Med 1999; 246: 211–218.

Background and objectives. Atherosclerosis is a multifactorial disease, in part characterized by chronic inflammatory changes in the vessel wall and loss of normal physical and biochemical interactions between endothelial cells and smooth muscle cells. Previous studies [Hu J., Cotgreave IA. J Clin Invest;99: 1–5] have provided molecular links between inflammation and myoendothelial communication via gap junctions, suggesting that these structures may be important in the development of the atherosclerotic vessel phenotype. In order to strengthen this premise, the aim of the present work was to probe for structural polymorphisms in connexin 37, a gap junctional protein uniquely expressed in endothelial cells, and to assess for potential genotypic segregation in individuals displaying atherosclerotic plaque.

Methods and results. Computer‐based comparisons of Expressed Sequence Tags (ESTs) predicted a polymorphism in the human gap junctional protein connexin 37 (cx37). The C1019‐T mutation results in a proline to serine shift at codon 319 (cx37*1–cx37*2). A Restriction Fragment Length Polymorphism (RFLP) assay, involving the insertion of a novel Drd I cleavage site in the proline variant revealed a statistically significant over‐representation of the cx37*1 allele in association with atherosclerotic plaque‐bearing individuals (Odds‐ratio for the homozygote = 2.38, Χ2 = 7.693, P = 0.006), in comparison to individuals lacking plaque, irrespective of a history of hypertension.

Conclusions. These data suggest that the C1019‐T polymorphism in cx37 may provide ‘single gene marker’, which could be useful in assessing atherosclerotic plaque development, particularly in cardiovascular risk groups such as those with borderline hypertension.
Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria
Authors: Wikberg A. , Andersson C. , Lithner F.
Published: March 2003

Abstract. Wikberg A, Andersson C, Lithner F (University of Umeå, Umeå; Primary Health Care Centre, Arjeplog; and University Hospital, Umeå, Sweden). Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000; 248: 27–32.

Objective. To assess signs of distal neuropathy in patients with acute intermittent porphyria (AIP).

Design. A population‐based study.

Subjects. All patients with DNA‐verified AIP ≥ 18 years of age in the four most northerly counties of Sweden.

Intervention. Validated neuropathic signs and tests such as monofilament test, neuropathic pain, dry feet, extensor digitorum brevis (EDB) test, loss of forefoot arch, hammer toes and ulceration.

Results. A total of 356 patients were registered and 339 of them (95%) participated in the neuropathy study. The chronic neurological signs were symmetrical and similar to those in type 1 diabetic patients. Significant impairment was found concerning perception, EDB test, lower leg pain, ankle and knee tendon reflexes, but not concerning dry feet, loss of forefoot arch and hammer toes, on comparing patients with manifest versus latent AIP. The neurological signs were more severe in the diabetic patients (n = 298). Five AIP patients had permanent quadriplegia after severe attacks.

Conclusions. Patients with manifest AIP had significantly more signs of distal chronic, symmetrical neuropathy of axonal type than did patients with latent AIP. More grave neurological lesions appear to develop after severe attacks.