Practical Guidelines for DNA-Based Testing in Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant predisposition to neoplastic lesions of the parathyroid glands, the neuroendocrine pancreas, and the anterior pituitary gland. The predisposing genetic defect was localized to the long arm of chromosome 11 by genetic linkage analysis in three affected families. By analyzing six MEN 1 families with 14 DNA marker systems located close to the MEN 1 gene, we have developed a method to identify carriers of the MEN 1 predisposition. We describe practical aspects of such DNA-based diagnostic procedures

Associations between pain thresholds for heat, cold and pressure, and Pain Sensitivity Questionnaire scores in healthy women and in women with persistent pelvic pain

Background The Pain Sensitivity Questionnaire (PSQ) is a self‐rating instrument developed as a time‐ and cost‐saving alternative to quantitative sensory testing (QST). The aims of the study were to assess (a) the associations between PSQ scores and QST in women with persistent pelvic pain and in pain‐free controls and (b) to what extent demographic variables and psychological distress influenced PSQ scores. Methods Fifty‐five healthy women and 37 women with persistent pelvic pain participated. All filled in the PSQ and Hospital Anxiety and Depression Scale and had QST (heat, cold and pressure pain thresholds) performed on six locations on the body. Information on age, body mass index, smoking habits and pain duration were collected. Principal component analysis and orthogonal partial least square regressions were used. Results The patients scored significantly higher on PSQ than the controls. Significant multivariate correlations between pain thresholds and PSQ scores were found only in the patient group. In the patient group, the heat and cold pain thresholds correlated more strongly with PSQ scores than the pressure pain threshold. Conclusions The PSQ score was significantly higher in pelvic pain patients, and correlations between QSTs and the PSQ were only found for patients. Significance The PSQ reflects pain sensitivity in women with PPP and can be used as a non‐invasive and painless way to assess this condition in clinical practice.Funding Agencies|Medical Research Council of Southeast Sweden; Swedish Research Council; County council of Ostergotland; Linkoping University; IMI Paincare</p

Foreword

Background: This study compares the levels of algesic substances between subjects with trapezius myalgia (TM) and healthy controls (CON) and explores the multivariate correlation pattern between these substances, pain, and metabolic status together with relative blood flow changes reported in our previous paper (Eur J Appl Physiol 108: 657-669, 2010). Methods: 43 female workers with (TM) and 19 females without (CON) trapezius myalgia were - using microdialysis - compared for differences in interstitial concentrations of interleukin-6 (IL-6), bradykinin (BKN), serotonin (5-HT), lactate dehydrogenas (LDH), substance P, and N-terminal propeptide of procollagen type I (PINP) in the trapezius muscle at rest and during repetitive/stressful work. These data were also used in multivariate analyses together with previously presented data (Eur J Appl Physiol 108: 657-669, 2010): trapezius muscle blood flow, metabolite accumulation, oxygenation, and pain development and sensitivity. Results: Substance P was significantly elevated in TM (p=0.0068). No significant differences were found in the classical algesic substances (p: 0.432-0.926). The multivariate analysis showed that blood flow related variables, interstitial concentrations of metabolic (pyruvate), and algesic (BKN and K+) substances were important for the discrimination of the subjects to one of the two groups (R-2: 0.19-0.31, pless than0.05). Pain intensity was positively associated with levels of 5-HT and K+ and negatively associated with oxygenation indicators and IL-6 in TM (R-2: 0.24, pless than0.05). A negative correlation existed in TM between mechanical pain sensitivity of trapezius and BKN and IL-6 (R-2: 0.26-0.39, pless than0.05). Conclusion: The present study increased understanding alterations in the myalgic muscle. When considering the system-wide aspects, increased concentrations of lactate, pyruvate and K+ and decreased oxygenation characterized TM compared to CON. There are three major possible explanations for this finding: the workers with pain had relatively low severity of myalgia, metabolic alterations preceded detectable alterations in levels of algesics, or peripheral sensitization and other muscle alterations existed in TM. Only SP of the investigated algesic substances was elevated in TM. Several of the algesics were of importance for the levels of pain intensity and mechanical pain sensitivity in TM. These results indicate peripheral contribution to maintenance of central nociceptive and pain mechanisms and may be important to consider when designing treatments.Funding Agencies|Danish Medical Research Council [22-03-0264]; Danish Rheumatism Association [233-1149-02.02.04]; Swedish Research Council [K2011-69X-21874-01-6]; Swedish Council for Working Life and Social Research [2010-0913]</p

Оценка частоты встречаемости желудочной метаплазии и Helicobacter pylori в слизистой оболочке двенадцатиперстной кишки с учетом дуоденальной патологии

ГЕЛИКОБАКТЕРИОЗДВЕНАДЦАТИПЕРСТНАЯ КИШКАМЕТАПЛАЗИ

Математическое моделирование производственной программы сельскохозяйственной организации как инструмент принятия управленческих решений

Материалы IX Междунар. науч.-практ. конф., Гомель, 26-27 ноября 2015

Parents' experiences of an abnormal ultrasound examination - vacillating between emotional confusion and sense of reality

<p>Abstract</p> <p>Background</p> <p>An ultrasound examination is an important confirmation of the pregnancy and is accepted without reflection to any prenatal diagnostic aspects. An abnormal finding often comes unexpectedly and is a shock for the parents. The aim was to generate a theoretical understanding of parents' experiences of the situation when their fetus is found to have an abnormality at a routine ultrasound examination.</p> <p>Methods</p> <p>Sixteen parents, mothers and fathers, whose fetus had been diagnosed with an abnormality during an ultrasound scan in the second or third trimester, were interviewed. The study employed a grounded theory approach.</p> <p>Results</p> <p>The core category <it>vacillating between the emotional confusion and sense of reality </it>is related to the main concern <it>assessment of the diagnosis impact on the well-being of the fetus</it>. Two other categories <it>Entering uncertainty </it>and <it>Involved in an ongoing change and adaptation </it>have each five sub-categories.</p> <p>Conclusions</p> <p>Parents are aware of that ultrasound examination is a tool for identifying abnormalities prenatally. The information about the abnormality initially results in broken expectations and anxiety. Parents become involved in ongoing change and adaptation. They need information about the ultrasound findings and the treatment without prolonged delay and in a suitable environment. The examiner who performs the ultrasound examination must be aware of how anxiety can be intensified by environmental factors. All parents should to be offered a professional person to give them <it>s</it>upport as a part of the routine management of this situation.</p

DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia

Background: Few biological markers are associated with survival after relapse of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In pediatric T-cell ALL, we have identified promoter-associated methylation alterations that correlate with prognosis. Here, the prognostic relevance of CpG island methylation phenotype (CIMP) classification was investigated in pediatric BCP-ALL patients. Methods: Six hundred and one BCP-ALL samples from Nordic pediatric patients (age 1-18) were CIMP classified at initial diagnosis and analyzed in relation to clinical data. Results: Among the 137 patients that later relapsed, patients with a CIMP-profile (n = 42) at initial diagnosis had an inferior overall survival (pOS(5years) 33%) compared to CIMP+ patients (n = 95, pOS(5years) 65%) (p = 0.001), which remained significant in a Cox proportional hazards model including previously defined risk factors. Conclusion: CIMP classification is a strong candidate for improved risk stratification of relapsed BCP-ALL.Peer reviewe

Parallel gradients in FENO and in the prevalences of asthma and atopy in adult general populations of Sweden, Finland and Estonia : A Nordic EpiLung study

The prevalence of asthma is higher in Sweden and Finland than in neighbouring eastern countries including Estonia. Corresponding difference in bronchial eosinophilic inflammation could be studied by FENO measurements. We aimed to compare FENO in adult general populations of Sweden, Finland, and Estonia, to test the plausibility of the west-east disparity hypothesis of allergic diseases. We conducted clinical interviews (N = 2658) with participants randomly selected from the general populations in Sweden (Stockholm and Örebro), Finland (Helsinki), and Estonia (Narva and Saaremaa), and performed FENO (n = 1498) and skin prick tests (SPT) in 1997–2003. The median (interquartile range) of FENO (ppb) was 15.5 (9.3) in Sweden, 15.4 (13.6) in Finland and 12.5 (9.6) in Estonia. We found the lowest median FENO values in the Estonian centres Saaremaa 13.1 (9.5) and Narva 11.8 (8.6). In the pooled population, asthma was associated with FENO ≥25 ppb, odds ratio (OR) 3.91 (95% confidence intervals: 2.29–6.32) after adjusting for SPT result, smoking, gender and study centre. A positive SPT test increased the likelihood of asthma OR 3.19 (2.02–5.11). Compared to Saaremaa, the likelihood of having asthma was higher in Helsinki OR 2.40 (1.04–6.02), Narva OR 2.45 (1.05–6.19), Örebro OR 3.38 (1.59–8.09), and Stockholm OR 5.54 (2.18–14.79). There was a higher prevalence of asthma and allergic airway inflammation in adult general populations of Sweden and Finland compared to those of Estonia. Atopy and elevated FENO level were independently associated with an increased risk of asthma. In conclusion, the findings support the earlier west-east disparity hypothesis of allergic diseases.Peer reviewe

Occupation, socioeconomic status and chronic obstructive respiratory diseases - The EpiLung study in Finland, Estonia and Sweden

Objective: To study occupational groups and occupational exposure in association with chronic obstructive respiratory diseases. Methods: In early 2000s, structured interviews on chronic respiratory diseases and measurements of lung function as well as fractional expiratory nitric oxide (FENO) were performed in adult random population samples of Finland, Sweden and Estonia. Occupations were categorized according to three classification systems. Occupational exposure to vapours, gases, dusts and fumes (VGDF) was assessed by a Job-Exposure Matrix (JEM). The data from the countries were combined. Results: COPD, smoking and occupational exposure were most common in Estonia, while asthma and occupations requiring higher educational levels in Sweden and Finland. In an adjusted regression model, non-manual workers had a three-fold risk for physician-diagnosed asthma (OR 3.18, 95%CI 1.07-9.47) compared to professionals and executives, and the risk was two-fold for healthcare & social workers (OR 2.28, 95%CI 1.14-4.59) compared to administration and sales. An increased risk for physician-diagnosed COPD was seen in manual workers, regardless of classification system, but in contrast to asthma, the risk was mostly explained by smoking and less by occupational exposure to VGDF. For FENO, no associations with occupation were observed. Conclusions: In this multicenter study from Finland, Sweden and Estonia, COPD was consistently associated with manual occupations with high smoking prevalence, highlighting the need to control for tobacco smoking in studies on occupational associations. In contrast, asthma tended to associate with non-manual occupations requiring higher educational levels. The occupational associations with asthma were not driven by eosinophilic inflammation presented by increased FENO. Keywords: Asthma; COPD; Fraction of exhaled nitric oxide (FENO); Occupational exposure; Smoking; Socioeconomic status.Peer reviewe