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Background: Most of large epidemiological studies on melanoma susceptibility have been conducted on fair skinned individuals (US, Australia and Northern Europe), while Southern European populations, characterized by high UV exposure and dark‐skinned individuals, are underrepresented. Objectives: We report a comprehensive pooled analysis of established high‐ and intermediate‐penetrance genetic variants and clinical characteristics of Mediterranean melanoma families from the MelaNostrum Consortium. Methods: Pooled epidemiological, clinical and genetic (CDKN2A, CDK4, ACD, BAP1, POT1, TERT, and TERF2IP and MC1R genes) retrospective data of melanoma families, collected within the MelaNostrum Consortium in Greece, Italy and Spain, were analysed. Univariate methods and multivariate logistic regression models were used to evaluate the association of variants with characteristics of families and of affected and unaffected family members. Subgroup analysis was performed for each country. Results: We included 839 families (1365 affected members and 2123 unaffected individuals). Pathogenic/likely pathogenic CDKN2A variants were identified in 13.8% of families. The strongest predictors of melanoma were ≥2 multiple primary melanoma cases (OR 8.1; 95% CI 3.3–19.7), >3 affected members (OR 2.6; 95% CI 1.3–5.2) and occurrence of pancreatic cancer (OR 4.8; 95% CI 2.4–9.4) in the family (AUC 0.76, 95% CI 0.71–0.82). We observed low frequency variants in POT1 (3.8%), TERF2IP (2.5%), ACD (0.8%) and BAP1 (0.3%). MC1R common variants (≥2 variants and ≥2 RHC variants) were associated with melanoma risk (OR 1.4; 95% CI 1.0–2.0 and OR 4.3; 95% CI 1.2–14.6, respectively). Conclusions: Variants in known high‐penetrance genes explain nearly 20% of melanoma familial aggregation in Mediterranean areas. CDKN2A melanoma predictors were identified with potential clinical relevance for cancer risk assessment. [ABSTRACT FROM AUTHOR]

The purpose of this study was to compare cardiovascular fitness between obese and nonobese children. Based on body mass index, 118 were classified as obese (boys [OB] = 62, girls [OG] = 56), while 421 were nonobese (boys [NOB] = 196, girls [NOG] = 225). Cardiovascular fitness was determined by a 1-mile [1.6 km] run/walk (MRW) and estimated peak oxygen uptake (VO[subscript 2]peak) and analyzed using two-way analyses of variance (Gender x Obese/Nonobese). MRW times were significantly faster (p less than 0.05) for the NOB (10 min 34 s) compared to the OB (13 min 8 s) and the NOG (13 min 15 s.) compared to the OG (14 min 44 s.). Predicted VO[subscript 2]peak values (mL multiplied by kg[superscript -1] multiplied by min[superscript -1]) were significantly higher (p less than 0.05) for the NOB (48.29) compared to the OB (41.56) and the NOG (45.99) compared to the OG (42.13). MRW was compared between obese and nonobese participants on the President's Challenge (2005), the National Children and Youth Fitness Study, and FITNESSGRAM[R] HFZ standards. The nonobese boys and girls scored higher on all three, exhibiting better cardiovascular fitness as compared to obese counterparts. (Contains 3 tables.)

Individuals with intellectual and developmental disabilities (IDD) have greater health risk factors, including obesity and associated comorbidities. This study investigated the effectiveness of a 12-week exercise and nutrition program on improving physical fitness. Statistical significance (p < 0.05) was found using a paired samples t-test for the 6-Minute Walk and Sit and Reach tests demonstrating improvement in cardiorespiratory fitness and flexibility. Clinical improvements were identified for the Single Leg Stance Test, abdominal curls, and plank noting improvement in static balance, coordination, and core strength and endurance. Findings demonstrated the effectiveness of a community-based wellness program for adults with IDD. [ABSTRACT FROM AUTHOR]

Anaerobic exercise is involved in many recreational and competitive sport activities. This study first established regression equations to predict maximal anaerobic power and then cross-validated these prediction equations. Using stepwise multiple regression analysis prediction equations for relative (watts per kilogram of body mass) and absolute (watts) mean and peak anaerobic power using the 30-second Wingate Test as the power measure were determined for 40 boys (age, 11-13 years). Percentage of body fat, free-fat weight, mid-thigh circumference, and 30-m dash were the independent predictive variables with the generated regression equations subsequently cross-validated using 20 different boys (age, 11-13 years). Significant correlations (Pearson r) were found for the cross-validation subjects between the measured power outputs and predicted power outputs for relative mean power (r = 0.48, p < 0.05), absolute mean power (r = 0.77, p < 0.01), and absolute peak power (r = 0.76, p < 0.01). Using paired t-tests, no significant mean differences (p > 0.05) were found for the same subjects between actual and predicted power outputs for relative mean power, absolute mean power, and absolute peak power. Prediction of maximal anaerobic power from selected anthropometric measurements and 30-m dash appears tenable in 11-13-year-old boys and can be accomplished in a simple cost- and time-effective manner. KEY WORDS. anthropometric characteristics, leg ergometry, muscular force

This article investigates the relationship between hand grip, pinch strength, and magnetic fields. An analysis of participants' body mass index and muscle strength measurements is presented.

Aim: This study was conducted to develop and validate a new self-report questionnaire for measuring quality of life (QoL), at school age, in children with a very low birthweight (VLBW).Method: Through a focus group approach, children were involved directly in defining the questionnaire items, which were presented as illustrations rather than written questions. This preliminary validation of the questionnaire was conducted in 152 participants with VLBW (aged 7-11y) randomly selected from the five participating Italian centres. The questionnaire was completed by children and parents separately; data on children's demographic and medical history, and intellectual, adaptive, and behavioural functioning were collected using standardized scales. All the children also completed the Paediatric Quality of Life Inventory (PedsQL), another Italian-language measure of QoL in children.Results: Our questionnaire was readily accepted and understood, and quick to complete. The Cronbach's alpha value showed it to be a reliable instrument. The child-compiled version correlated well with the PedsQL, whereas no correlations emerged with the other scales used, IQ, or degree of impairment. Conversely, these variables correlated significantly with the parent-compiled version. Children's and parents' answers were divergent on practically all the items.Interpretation: The results confirm the validity of the new instrument and highlight a poor overlap between parents' and children's perspectives. [ABSTRACT FROM AUTHOR]

The article presents a study on the effect of an 8-week circuit training on menopausal symptoms and quality of life (QOL), as an alternative to the adverse effects of hormone therapy. The study demonstrated the benefits of aerobic and resistance exercises which increased muscle strength, endurance and flexibility while decreasing physical menopausal symptoms. The authors suggest further studies using a larger sample size and a control group, measurement of body fat, correct nutrition and longer study duration.

The present investigation was undertaken to examine whether maximal oxygen uptake (VO2max) and anaerobic thresh old (AT) measured during incremental treadmill exercise would be affected by the exercise protocol in trained and untrained individuals. Fifteen untrained men, 10 untrained women, and 12 trained individuals participated in this study. The Astrand, Bruce, and Costill/Fox protocols were selected for comparison. Each subject was tested using all three protocols and the three tests were conducted in a randomized counterbalanced order. During each test, oxygen uptake was measured every 30 s and the test was terminated according to the standard criteria. The VO2max was determined by averaging the two consecutive highest measurements, whereas AT was determined using ventilatory parameters following the V-slope technique. The Astrand, Bruce, and Costill/Fox protocols produced test durations of 9.8 (SEM 0.5), 12.4 (SEM 0.4), and 4.9 (SEM 0.3) mm, respectively, in the untrained men, 9.0 (SEM 0.8), 11.0 (SEM 0.6), and 5.3 (SEM 0.6) mm, respectively, in the untrained women, and 14.5 (SEM 0.5), 17.0 (SEM 0.5) and 10.4 (SEM 0.4) mm, respectively, in the trained men. In the untrained men and women, no differences in VO2max were observed among the three different protocols, but AT was lower when using the Bruce compared to the Astrand protocol. In the trained men, VO2max and AT were lower when using the Bruce protocol than either the Astrand or Costill/Fox protocols. In conclusion, VO2max measured during treadmill exercise is not affected by the protocol of the test and using a running protocol of short duration (i.e. about 5 mm) could be a time-efficient way of assessing VO2max in healthy untrained subjects. In trained subjects, however, a protocol consisting of running with small increments in gradient is effective in eliciting a higher VO2max. The lower AT associated with the Bruce protocol seen in both untrained and trained groups suggests this aerobic parameter is protocol dependent and this protocol dependency is not affected by training status. [ABSTRACT FROM AUTHOR]

Surgeons today have a wide range of therapeutic options for the management of patients with choledocholithiasis. Endoscopists, interventional radiologists, and surgeons employ a variety of techniques to access and remove common bile duct stones (CBDS) successfully. Although earlier studies have been done to assess the relative merits of laparoscopic and endoscopic management of CBDS, few of them have employed a randomized prospective trial for the comparison. Without recognized parameters for comparison, no definitive conclusions can be drawn. Herein, we examine the role of therapeutic endoscopic retrograde cholangiopancreatography (ERCP) as an important adjunct to laparoscopic cholecystectomy (LC) in the management of CBDS. The three main scenarios in which this modality is employed for CBDS removal are selective preoperative ERCP, intraoperative ERCP, and postoperative ERCP. We conclude that an appropriate balance must be struck to maintain a high yield of positive or therapeutic ERCP, avoid unnecessary ERCP, and not miss CBDS, while ensuring acceptably low rates of morbidity and mortality and controlling costs. As we await the publication of prospective data, we may look for direction from decision analysis in order to develop optimal management strategies and define the "best practice" results that should be expected of operators before new procedures and innovative technology are accepted on a widespread basis. [ABSTRACT FROM AUTHOR]

The article focuses on the effectiveness of interprofessional cooking classes and home gardens in improving nutritional outcomes for adults with intellectual or developmental disabilities. Topics include the challenges dietitians face when consulting in these settings; the influence of support staff on promoting healthy diets; and the benefits of gardening on quality of life for individuals with intellectual disabilities.

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Introduction: A history of suicide attempts represents the strongest predictor of completed suicide. Studies suggested that multiple suicide attempters (MSAs) might present a higher risk of suicide than those who attempted once (SSAs). To date, only a few studies examined the characteristics of MSAs compared to SSAs. Objectives: To assess the socio-demographic and clinical characteristics of SSAs, MSAs, and suicidal ideators (SIs) and compare the risk of reattempt. We hypothesized that MSAs might be at higher risk of reattempt compared to the other groups. Methods: The study sample consisted of 153 adult inpatients admitted to the emergency psychiatric unit at Sant'Andrea Hospital in Rome. Patients with suicidal ideation or attempted suicide were included. We divided them into three groups using the Columbia Suicide Severity Rating Scale (58 SSAs, 65 MSAs, 30 SIs). Sociodemographic and clinical features were collected through interviews and the Beck Hopelessness Scale (BHS). Continuous variables were compared using Student's t-test and Kruskal Wallis test, categorical variables through X2-test. Results: The components "future expectations" and "loss of motivation" at the BHS were significantly higher in SAs than in SIs (p=0,021; 0,006). MSAs, compared to SSAs, presented more lethal than suicide attempts (2.3±0.9 vs. 1.5±1.1, p<0.001). Conclusions: According to our preliminary findings, having attempted suicide is associated with lower hope and motivation towards the future and increased lethality of the subsequent attempts. Our results confirmed that MSAs are at higher risk of reattempting suicide using a more lethal method than SSAs. [ABSTRACT FROM AUTHOR]

Objective Clinical metabolomics has emerged as a powerful tool to study metabolic perturbations in various diseases and to unravel novel biomarkers. In a monocenter study on metabolic-genetic research into epileptic encephalopathies, we applied untargeted metabolomics in parallel with exome sequencing in twin brothers with epileptic encephalopathy of unknown etiology. Genetic analysis confirmed Snyder-Robinson syndrome (SRS), a rare X-linked mental retardation syndrome. The underlying spermine synthase (SMS) deficiency affects polyamine metabolism and reduces intracellular spermine. So far, the diagnosis of SRS relied on a reduced spermine/spermidine ratio in lymphoblasts and/or sequencing of the SMS gene. Case The male monozygotic twins presented with developmental delay, progressive microcephaly and discrete dysmorphic features. From the age of 12 months, they developed therapy-resistant seizures with recurrent irregular myoclonic jerks and serial spasms in twin A. The EEG showed an abnormal background activity and multifocal and generalized spike waves. Additional atonic and tonic seizures and atypical absences occurred in both. At the age of 15 months, they developed a severe encephalopathy with frequent seizures, loss of milestones, impairment of visual interaction and a transient choreo-athetotic movement disorder. Both twins showed signs of osteopenia, twin B suffered a non-traumatic clavicular fraction at 23 months. Methods Clinical exome sequencing was applied in both twins and their parents. Sanger sequencing was applied to confirm the candidate variant. An untargeted plasma metabolomics analysis was performed by liquid chromatography–high-resolution mass spectrometry (LC-MS). Results Exome sequencing revealed a novel SMS missense mutation. Discriminant statistical analysis of the LC-MS data showed a distinct plasma metabolomics profile while comparative analysis versus age-matched controls revealed significantly elevated levels of N-acetylspermidine, a metabolite involved in spermine metabolism. Conclusion A combined clinical “omics” approach revealed N-acetylspermidine as a novel plasma biomarker for spermine synthase deficiency and identified a novel missense mutation in twin boys with SRS. [ABSTRACT FROM AUTHOR]