A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers

Testicular germ cell tumors (TGCT) arise by multistep carcinogenesis pathways involving selective losses and gains of chromosome material. To locate cancer genes underlying this selection, we performed a genome-wide study of allelic imbalance (AI) in 32 tumors, using 710 microsatellite markers. The highest prevalence of AI was found at 12p, in line with previous studies finding consistent gain of the region in TGCTs. High frequency of AI was also observed at chromosome arms 4p, 9q, 10p, 11q, 11p, 13q, 16q, 18p, and 22q. Within 39 candidate regions identified by mapping of smallest regions of overlap (SROs), the highest frequency of AI was at 12p11.21 approximately p11.22 (62%), 12p12.1 approximately p13.1 (53%), 12p13.1 approximately p13.2 (53%), 11q14.1 approximately q14.2 (53%), 11p13 approximately p14.3 (47%), 9q21.13 approximately q21.32 (47%), and 4p15.1 approximately p15.2 (44%). Two genes known to be involved in cancer reside in these regions, ETV6 at 12p13.2 (TEL oncogene) and WT1 at 11p13. We also found a significant association (P = 0.02) between AI at 10q21.1 approximately q22.2 and higher clinical stage. This study contributes to the ongoing search for genes involved in transformation of germ cells and provides a useful reference point to previous studies using cytogenetic techniques to map chromosome changes in TGCTs.     

Lower Intake of Saturated Fatty Acids Is Associated with Improved Lipid Profile in a 6-Year-Old Nationally Representative Population

To strengthen the organization of new national dietary surveys and interventions in childhood, our aim was to study macronutrient intake and blood lipid profile at 6 years of age by comparing results from two earlier population-based cohorts. Subjects were n = 131 and n = 162 in the years 2001–2002 and 2011–2012, respectively. Three-day weighed food records were used to estimate diet and calculate nutrient intake. Total cholesterol, HDL-cholesterol and triacylglycerol were measured in serum and LDL-cholesterol was calculated. The average intake of saturated fatty acids (SFA) and trans FA was lower in 2011–2012 than 2001–2002 (13.3E% vs. 14.7E%, p < 0.001, and 0.8E% vs. 1.4E%, p < 0.001, respectively), replaced by a higher intake of unsaturated fatty acids. Total cholesterol and LDL-cholesterol were significantly lower in 2011–2012 than 2001–2002 (4.6 vs. 4.4 mmol/L, p = 0.003 and 2.8 vs. 2.5 mmol/L, p < 0.001, respectively). In a multiple linear regression model, one E% increase in SFA intake was related to a 0.03 mmol/L increase in LDL cholesterol (p = 0.04). A lower intake of saturated and trans fatty acids, replaced by unsaturated fatty acids, may have contributed to an improved lipid profile in a healthy 6-year-old population. Biological data for analysis of blood lipids are important in national dietary surveys in healthy children to monitor important health outcomes of interventions.     

Neuromodulation for fecal incontinence: An effective surgical intervention

Fecal incontinence is a disabling symptom with medical and social implications,including fear,embarrassment,isolation and even depression.Most patients live in seclusion and have to plan their life around the symptom,with secondary impairment of their quality of life.Conservative management and biofeedback therapy are reported to benefit a good percentage of those affected.However,surgery must be considered in the nonresponder population.Recently,sacral nerve electrostimulation,lately named neuromodulation,has been reported to benefit patients with fecal incontinence in randomized controlled trials more than placebo stimulation and conservative management,by some unknown mechanism.Neuromodulation is a minimally invasive procedure with a low rate of adverse events and apparently favorable cost-efficacy profile.This review is intended to expand knowledge about this effective intervention among the non-surgically skilled community who deals with this disabled group of patients.     

Characteristics of disorders of gut–brain interaction in the Japanese population in the Rome Foundation Global Epidemiological Study

Background

The aims were to use Japanese data from the Rome Foundation Global Epidemiological Study (RFGES) to test the hypotheses that severity of gastrointestinal (GI) symptoms and psychosocial disturbance are ordered as Rome IV irritable bowel syndrome (IBS) > Rome III IBS > DGBI, not IBS > others.

Methods

Subjects were 2504 Japanese in the RFGES. We assessed DGBI/IBS diagnoses with Rome IV/III, IBS Symptom Severity Scale (IBS-SSS), Patient Health Questionnaire (PHQ) for anxiety/depression and non-GI somatic symptoms, PROMIS-10 for quality of life (QOL), Work Productivity and Activity Impairment (WPAI) Questionnaire, parts of Self-reported IBS Questionnaire (SIBSQ) for meal effect and stress effect, Food Frequency Questionnaire, and medication questions.

Key Results

The prevalence of Rome IV DGBI was as follows; IBS-C 0.5%, IBS-D 0.8%, IBS-M 0.8%, IBS-U 0.1%, unspecified functional bowel disorder 10.7%, postprandial distress syndrome 2.2%, and epigastric pain syndrome 0.3%. Rome III IBS prevalence; IBS-C 3.0%, IBS-D 3.1%, IBS-M 2.7%, and IBS-U 0.6%. Comparison among Rome IV IBS (n = 54), Rome III IBS (n = 197), other DGBI (n = 746), others (n = 1389) revealed significant order as Rome IV IBS > Rome III IBS > other DGBI > others in IBS-SSS, anxiety/depression, activity impairment, non-GI symptoms, physical QOL, mental QOL, exacerbated symptoms by meals and perceived stress (all p < 0.001).

Conclusions & Inferences

These findings support the study hypotheses. Data from Japan as a culturally homogenous country suggest Rome IV IBS is more severe and hence has more gut–brain psychobehavioral involvement than Rome III IBS.     

Epidemiology of disorders of gut-brain interaction in Belgium and differences between two language groups: Results from the Rome foundation global epidemiology study

Background

The Rome Foundation carried out a worldwide epidemiology study on DGBI according to the Rome IV criteria in 33 countries, including Belgium. DGBI prevalence varied between continents and countries, but prevalence differences within language groups in a single country have not yet been described.

Methods

We analyzed the prevalence rates of 18 DGBI and their psychosocial impact in Belgium in the French and Dutch language groups.

Key Results

DGBI prevalence was similar in the French-speaking and Dutch-speaking population. Having one or more DGBI was negatively associated with psychosocial well-being. The scores for depression were lower in the Dutch-speaking participants with one or more DGBI compared to the French-speaking participants. Interestingly, we also found significantly lower scores in the general Dutch-speaking versus the French-speaking population for depression and non-gastrointesinal somatic symptoms, and higher global physical health and mental health quality-of-life component scores. In the Dutch-speaking group, medication use for gastric acid was lower, but use of prescribed analgesics was more common. Nevertheless, the use of non-prescribed pain medication was higher in the French-speaking group. Anxiety and sleep medication use was also higher in the latter group.

Conclusions & Interferences

The results of this first in-depth analysis of Rome IV DGBI in Belgium show a higher prevalence for some DGBI in the French-speaking cohort, and a larger associated disease burden. These differences between language/culture groups in the same country support the psychosocial pathophysiological model of DGBI.     

A comparative study of disorders of gut–brain interaction in Western Europe and Asia based on the Rome foundation global epidemiology study

Objective

Many studies have been published on disorders of the gut–brain interaction (DGBI) in Asia and Western Europe, but no previous study has directly assessed the difference between the two regions. The aim was to compare the prevalence of DGBI in Asia and Western Europe.

Methods

We used data collected in a population-based Internet survey, the Rome Foundation Global Epidemiology Study, from countries in Western Europe (Belgium, France, Germany, Netherlands, Italy, Spain, Sweden, and the United Kingdom) and Asia (China, Japan, South Korea, and Singapore). We assessed DGBI diagnoses (Rome IV Adult Diagnostic Questionnaire), anxiety/depression (Patient Health Questionnaire-4, PHQ-4), non-GI somatic symptoms (PHQ-12), and access to and personal costs of doctor visits.

Results

The study included 9487 subjects in Asia and 16,314 in Western Europe. Overall, 38.0% had at least one DGBI; younger age, female sex, and higher scores on PHQ4 and PHQ12 were all associated with DGBI. The prevalence of having at least one DGBI was higher in Western Europe than in Asia (39.1% vs 36.1%, OR 1.14 [95% CI 1.08–1.20]). This difference was also observed for DGBI by anatomical regions, most prominently esophageal DGBI (OR 1.67 [1.48–1.88]). After adjustment, the difference in DGBI prevalence diminished and psychological (PHQ-4) and non-GI somatic symptoms (PHQ-12) had the greatest effect on the odds ratio estimates.

Conclusion

The prevalence of DGBI is generally higher in Western Europe compared to Asia. A considerable portion of the observed difference in prevalence rates seems to be explained by more severe psychological and non-GI somatic symptoms in Western Europe.