Miracle-dz/UniFAR-FTUs huggingface dataset:
Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease. G.E.T.A.I.D.

Segregation analyses of familial aggregations of Crohn disease have provided consistent results pointing to the involvement of a predisposing gene with a recessive mode of inheritance. Although extensively investigated, the role played by human leucocyte antigen (HLA) genes in this inflammatory bowel disease remains elusive and the major histocompatibility complex is a candidate region for the mapping of the Crohn disease susceptibility gene. A total of 25 families with multiple cases of Crohn disease was genotyped for HLA DRB1 and for 16 highly polymorphic loci evenly distributed on chromosome 6. The data were subjected to linkage analysis using the lod score method. Neither individual nor combined lod scores for any family and for any locus tested reached values suggesting linkage or genetic heterogeneity. The Crohn disease predisposing locus was excluded from the whole chromosome 6 with lod scores less than -2. It was excluded from the major histocompatibility complex and from 91% of the chromosome 6 genetic map with lod scores less than -4. The major recessive gene involved in genetic predisposition to Crohn disease does not reside on the major histocompatibility complex nor on any locus mapping to chromosome 6.
Internet Gaming Disorder and Well-Being: A Scale Validation

The overuse of online games is known to be inversely related to various indicators of well-being. This article validates the DSM-5 criteria of internet gaming disorder (IGD), and analyzes its links with five indicators of well-being: life satisfaction, loneliness, anxiety, depression, and academic performance in a French-speaking sample of 693 gamers. Exploratory and confirmatory factor analyses showed a one-factor structure of IGD criteria. The IGD scale showed satisfactory validity and reliability and was related in a consistent way with well-being measures. The IGD scale appears to be an appropriate measure to assess video game addiction and will contribute to increase the comparability of international research on video game addiction.
Topo-Proteomic in situ Analysis of Psoriatic Plaque under Efalizumab Treatment

In a pilot study 6 psoriasis patients were treated over 12 weeks with efalizumab targeting the CD11a subunit of LFA-1. The treatment was well tolerated. Five of these patients proved to be responders with an average decrease in psoriasis area and severity index (PASI) from 21.3 ± 5.4 (day 0) to 3.9 ± 0.6 (week 12). The nonresponder was subsequently successfully treated with cyclosporin. Skin biopsies were taken before and after efalizumab treatment and subjected to Multi-Epitope Ligand Cartography (MELC) robot microscopy. A MELC library of 46 antibodies including FITC-labeled efalizumab was chosen focusing upon inflammatory epitopes. Quantification of marker expression was performed using a special adaptation to the needs of skin tissue in terms of pixel events normalized to a standardized horizontal skin width of 100 µm. The before-versus-after comparison for the responders revealed at the ‘single epitope level’ of MELC analysis a significant decrease (p < 0.05) in epidermal thickness (represented by pan-cytokeratin, CD71, CD138), of the expression of common leukocyte antigen (CD45), T-cell markers (CD2, CD4, CD8, CD45R0), CD11a, efalizumab binding site (EfaBS), and CD58. At the ‘EfaBS-centered, double colocation level’ a corresponding decrease was observed for CD2, CD3, CD4, CD8, CD11a, CD13, CD26, CD44, CD45, CD45R0, CD54, CD62L, HLA-DR, and TIA-1. MELC analysis at the ‘multicombinatorial level’ revealed predominant combinatorial molecular phenotype (CMP) motifs, which showed an efalizumab treatment-dependent significant decrease. These CMP motifs were defined as toponomic combinations of lead markers for (i) leukocytes in general (CD45), (ii) T cells (CD2, CD3, CD4, CD45R0, CD45RA), (iii) macrophages (CD68), (iv) cell activation (CD13, CD26, HLA-DR), and (v) cell adhesion (CD11a, EfaBS). Thirty-five of the most relevant 50 CMP motifs were directly related to the T-cell type. A descriptive statistical analysis of the nonresponder before treatment showed a below-responder range degree of expression for CD4, CD8, CD44 (H-CAM), CD56, CD62L, HLA-DQ, and also for these epitopes in colocation with EfaBS. In the nonresponder and before treatment we observed an above-responder range degree of expression for CD54 (ICAM-1) as LFA-1 ligand. In conclusion, the topo-proteomic data provide new diversified insights into the pleiotropic cellular dynamics in psoriatic skin lesions under effective efalizumab treatment. Moreover, the data may be relevant to the future development of possible strategies for individual prediction of efalizumab treatment response or nonresponse.
Effectiveness and Efficiency of Opportunistic Cervical Cancer Screening: Comparison With Organized Screening

Background:Several countries have adopted nationally organized cervical screening programs, but many continue with opportunistic screening. Comparison of the effectiveness and efficiency of the 2 systems is important for informing policy. Objectives:The objectives of this study were to assess the effectiveness and efficiency of an opportunistic cervical screening system, and to compare this with what could be achieved through an organized program. Research Design:We propose a model for estimating the effectiveness and efficiency of opportunistic screening systems and demonstrate it using data from a cross-sectional study of 1826 women in Hong Kong. We estimated the coverage and frequency of screening and used this to estimate effectiveness (number of cases of invasive cervical cancer potentially prevented) and efficiency (tests per case prevented) of the current system. Similar estimates were made for various organized programs with different screening intervals and coverage. Results:Ever screening coverage in this opportunistic system was 44%, resulting in 26% to 31% reduction in potential new cases (n = 144–183). Compared with this, a 3-yearly or 5-yearly screening policy aiming for 80% coverage would prevent an additional 46% (equivalent to 254 new cases out of a population of 2.3 million women per year) and 41% (222 per year), respectively. This could be achieved with more efficient use of resources, reducing the number of tests per case prevented from 2018 to 1545 and 1007, respectively. Conclusions:At best, the effectiveness of this opportunistic system is equivalent to an organized program with 10-yearly screening and 50% coverage but at much greater cost. Poor coverage and overscreening of a minority of women contributes to its inefficiency.
Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children: A Subtle Effect of the Normal Allele Range on the Normal Ability Range?

The FMR1 gene contains a trinucleotide repeat tract which can expand from a normal size of around 30 repeats to over 200 repeats, causing mental retardation (Fragile X Syndrome). Evidence suggests that premutation males (55‐200 repeats) are susceptible to a late‐onset tremor/ataxia syndrome and females to premature ovarian failure, and that intermediate alleles (∼41‐55 repeats) and premutations may be in excess in samples with special educational needs. We explored the relationship between FMR1 allele length and cognitive ability in 621 low ability and control children assessed at 4 and 7 years, as well as 122 students with high IQ. The low and high ability and control samples showed no between‐group differences in incidence of longer alleles. In males there was a significant negative correlation between allele length and non‐verbal ability at 4 years (p = 0.048), academic achievement in maths (p = 0.003) and English (p = 0.011) at 7 years, and IQ in the high ability group (p = 0.018). There was a significant negative correlation between allele length and a standardised score for IQ and general cognitive ability at age 7 in the entire male sample (p = 0.002). This suggests that, within the normal spectrum of allele length, increased repeat numbers may have a limiting influence on cognitive performance.
Social Support and Depression among Elderly Chinese People in Hong Kong

This study examines the association between social support and depressive symptomatology in a representative community sample of 1106 Chinese people in Hong Kong aged sixty years or older. Significant bivariate relationships were found between depression and all dimensions of social support including social network size, network composition, social contact frequency, satisfaction of social support, instrumental/emotional support, and helping others. Using multiple regression models, the authors found that at least one measure of these six dimensions of social support was associated with depressive symptomatology, even after controlling for socio-demographic, and functional disability. We found that social support from family is important for elderly Chinese people in Hong Kong, and satisfaction with support is a more important predictor of depression levels than other objective measures of network relationships. Lastly, it was found that material aid and instrumental support is more important in preventing depression for elderly individuals in Hong Kong than emotional support.
A Multivariate Statistical Assessment of the Level of Use of Information Systems in the Public Sector Services in Greece in Order to Oppose Bureaucracy

Public sector bureaucracy is undoubtedly one of the major unfavorable factors that contradict the smooth economic development of Greece. Using information systems in management is indeed promoting decisively the improvement of the organization, the communication, the service processing time and generally speaking the modernization of the Public Administration; leading to the fact that the level of proficiency of the employees in IS use is vital to the ever going fight against bureaucracy. This paper is about the study of the competence of the non IT specialists of the Greek public sector employees, who however use computers in their daily work, in subjects regarding the safe and sound use of Information Systems applications. The authors also studied the correspondence of the employees capabilities with variables like the experience, adequate knowledge of a second language, age and years of service; their interest in participating in IS training seminars is also recorded. The authors were based in data gathered with a structured questionnaire and the data analysis was conducted with multivariate analysis, correspondence analysis and hierarchical classification.
The association of upper airway resistance with periodic limb movements.

STUDY OBJECTIVES We hypothesized that the upper airway resistance syndrome (UARS), the component event being a respiratory effort related arousal (RERA), and periodic limb movements in sleep (PLMS), the component event being repetitive, stereotyped extremity movements occurring in a periodic fashion, were associated in certain patients. DESIGN Invasive polysomnography using Pes and full facemask pneumotachography was used to identify RERA's in patients. Periodic limb movements (PLM) were scored according to standard criteria and as associated with RERA if the movement occurred between the Pes nadir and the onset of the arousal. SETTING A university hospital Sleep Disorders Laboratory. PARTICIPANTS Patients consecutively diagnosed with PLMS in our sleep disorders laboratory over a 1 year period. INTERVENTIONS None. MEASUREMENTS AND RESULTS Fourteen of twenty patients demonstrated UARS in addition to PLMS (70%). In those 14, 63% of RERAs were associated with a PLM (mean = 51.7 + 36.2 PLM/RERAs per study vs 5.6 + 6.3 PLM/RERAs per study if the association were random). Patients with UARS had more arousals with their PLMs (P = 0.0006). CONCLUSIONS An association exists between PLMS and UARS on both a group level and an event level. A high percentage of PLM with arousals correlated with breathing events due to increased effort in UARS; this may be of clinical utility in the management of PLMS patients.
Chemical carcinogenesis in C3H/StWi mice, a worthwhile experimental model for breast cancer.

Abstract The C3H/StWi mouse subline spontaneously lost the mouse mammary tumor virus in 1958 and became a low mammary cancer strain. Previous studies have shown that StWi mice are highly susceptible to mouse mammary tumor virus (MMTV)(standard) but less so to infection with MMTV(low oncogenic). Unlike C3Hf mice, StWi virgin females and their F 1 hybrids with BALB/c/He mice do not develop mammary cancer when exposed to increased estrogenic stimulation (20% diethylstilbestrol pellets). In contrast, after treatment with 7,12-dimethylbenz(α)-anthracene, (DMBA), 46% (17 of 37) developed mammary cancer at an average age of 7.8 months (range, 4.5 to 10 months). The tumors were mainly papillary adenocarcinomas. Mammary dysplasias were found in 73% of the whole-gland mounts examined at 10 months (3.6/mouse). All but three dysplasias were ductal in origin. No hyperplastic alveolar nodules were found. Electron microscopic examination of 14 DMBA-induced tumors failed to reveal the presence of type A or B particles; however, 11 of 14 tumors contained budding and extracellular type C virions. Evaluation of five DMBA-induced mammary tumors for MMTV-specific RNA sequences indicated levels as low or lower than found in the mammary glands of old retired multiparous C3H/StWi females (0.0035%). Much higher levels (0.2 to 0.4%) of MMTV-specific RNA to total RNA occurred in MMTV-induced C3H/StWi mammary tumors. These results and others suggest that the StWi subline may represent a unique model for the study of viral, chemical, and viral-chemical interactions in the malignant transformation of mammary epithelial cells. Studies are currently in progress to evaluate the effect of the presence of MMTV on the response of C3H/StWi mammary glands to DMBA and to screen the DMBA-induced tumors by immunoperoxidase for the expression of MMTV-specific antigenic determinants.
Analysis of a diagnostic strategy for patients with suspected tumors of unknown origin.

PURPOSE Diagnostic strategies designed to identify the underlying primary malignancies in patients with unknown primary tumors (UPTs) have relied on retrospective analyses. We analyzed 879 consecutive patients referred with suspected UPTs to determine the yield and cost of a limited diagnostic evaluation, assess the contribution of specific studies to diagnosis, and analyze the survival patterns of patients in whom the primary tumor was diagnosed. PATIENTS AND METHODS Data from patients with a suspected UPT were entered into a computerized data base, and the patients underwent a predefined limited diagnostic evaluation. Primary malignancies were diagnosed by pathologic review alone or by pathologic criteria plus a physical or radiographic finding. Survival was measured from diagnosis, estimated using the Kaplan-Meier method, and compared using the Cox-Mantel log-rank test. RESULTS A primary tumor was found in 179 of 879 patients (20%). The survival duration of patients in whom the primary tumor was diagnosed was superior to that of patients in whom the primary tumor remained unknown. Specific patient subsets contributed most to the improved survival duration of the group in which the primary tumor was found, including lymphoma patients diagnosed solely by pathologic criteria and female patients with primary breast or ovarian cancer. The cost of diagnosis was mostly due to the extensive use of computed tomography. Except for ovarian cancer, computed tomography rarely identified treatable primary tumors. CONCLUSION The limited diagnostic evaluation used in this study identified patients with treatable malignancies and increased the survival duration of a population of suspected UPT patients. Primary malignancies with the best survival can be diagnosed through careful pathologic review and focused evaluations for breast and ovarian cancer in women.
Dose and frequency of anti-snake venom injection in treatment of Echis carinatus (saw-scaled viper) bite.

OBJECTIVES To assess the adequacy of initial standard dose of 100 ml of polyvalent anti-snake venom (ASV) and subsequent doses of 50 ml in correcting coagulation dysfunction in cases of viperine bite and to find the incidence of recurrence of coagulation dysfunction. The other objective was to correlate total requirement of ASV with initial coagulation profile. METHODS Forty two adult patients of Echis carinatus bite with features of systemic envenomation, admitted over a period of 18 months, were monitored every six hours with bed-side clotting time (CT) and were given an initial standard dose of 100 ml of ASV intravenously. Further doses of 50 ml were administered six hourly until coagulation profile normalised or whenever a recurrence of coagulation dysfunction observed. RESULTS Twenty one (50%) of 42 patients who received initial standard dose of 100 ml of ASV required a subsequent 50 ml of ASV. Ten (23.8%) of them required a further 50 ml on subsequent test (making the total requirement at least 200 ml). Sixteen (72.7%) of 22 patients who had incoagulable blood at entry required further dose of anti-snake venom (after initial 100 ml), six required 150 ml and ten 200 ml or more before CT returned to normal. Recurrence of venom antigenemia as evidenced by prolonged clotting time was noticed in 15 patients (35.7%). The mean dose requirement of anti-snake venom was 179.2 ml. CONCLUSIONS Total requirement of anti-snake venom correlated positively with degree of coagulation dysfunction at entry. Hence patients having incoagulable blood at entry should be administered higher initial dose of ASV i.e., 150-200 ml. If needed as judged by CT, subsequent dose of ASV in patients having still incoagulable blood should be 100 ml (and those having mild dysfunction 50 ml) until total correction occurs Recurrence of coagulation dysfunction was observed in approximately one-third of patients and thus, CT should be monitored even after total correction.
Do platelet concentrates promote bone regeneration

Platelet concentrates have been used in various applications within Oral and Maxillofacial Surgery and Implantology in order to promote tissue repair. The Platelet-Rich Plasma (PRP) is the first generation of platelet concentrates and recent studies question its actual effectiveness on tissue healing due to the rapid release of growth factors. The second generation of platelet concentrates, the Platelet-Rich Fibrin (PRF), has peculiar features in the release of growth factors, which occurs slowly and gradually and thus seems to promote a more promising effect over the tissues under repair in comparison with PRP, especially regarding to bone. However, the literature data are different and better results seem to be obtained when the PRF is mainly used in combination with other graft materials. Additional well-designed studies are needed to better clarify this matter.
The efficacy of continuous local anesthetic infiltration in breast surgery: reduction mammaplasty and reconstruction.

BACKGROUND Pain control after reduction mammaplasty and breast reconstruction with tissue expanders often requires intravenous narcotic analgesia and inpatient hospitalization. Regional and local anesthetic techniques are increasing in popularity because they decrease the use of intravenous analgesic medications and offer comparable pain relief without the systemic side effects. METHODS This study examined the use of indwelling catheters for the continuous infiltration of local anesthetic (bupivacaine) in 74 consecutive breast reduction and 74 consecutive tissue expander breast reconstruction patients. Patients entering the study before February of 2003 had conventional methods of analgesia (39 patients for each group), whereas those entering afterwards received the infusion pumps (35 patients for each group). RESULTS The number of hospital admissions among the breast reduction patients with infusion pumps was significantly less than that for those without pumps (p < 0.01). Pain, measured on a verbal response scale of 0 to 10, while in the recovery room was significantly less in the pain pump group than in the comparison group (p < 0.01), as were cumulative amounts of pain medications (p < 0.01). There were no statistically significant differences in the number of complications or in the rate of nausea or vomiting. The number of inpatient days among the tissue expander reconstruction patients with infusion pumps was not significantly different from that for those without pumps; the average pain score was significantly lower (p < 0.01). The cumulative amounts of pain medication in patients receiving the infusion pump were significantly lower than those in patients without the pumps (p < 0.01). There were no statistically significant differences in the number of complications or in the rate of nausea or vomiting. There were no tissue expander infections in patients with the indwelling catheters adjacent to the implant. CONCLUSIONS The continuous infiltration of local anesthetic with an infusion pump represents another tool for pain management in surgical patients.
Pelvic radiotherapy and sexual function in men and women.

INTRODUCTION Despite the decrease in overall cancer incidence and mortality rates in developed countries since the early 1990 s, cancer remains a major public health problem. Sexual dysfunction is one of the more common consequences of cancer treatment. AIM To shortly review the literature and level of evidence on sexual dysfunction in men and women following pelvic radiotherapy. MAIN OUTCOME MEASURES Male and female sexual dysfunction. METHODS Literature review. RESULTS Sexual dysfunction in cancer patients is multidimensional and may result from biological, psychological, and social factors. Anatomic changes caused by surgery and/or radiotherapy, physiological changes following hormonal manipulation, and the secondary effect of medical intervention may impede or preclude sexual functioning, even when sexual desire is intact. Pelvic irradiation constitutes the primary or adjuvant treatment for a large number of both female and male cancers. No randomized controlled trials could be identified regarding the effect of radiotherapy on sexual dysfunction. However, prospective and clinical controlled trials all demonstrated a severe negative effect on sexual functioning in men and women following radiotherapy for a pelvic cancer. Following pelvic radiotherapy for prostate cancer, a positive effect of phosphodiesterase type 5 inhibitors on erectile dysfunction has been demonstrated, whereas no significant effect on female sexuality was found. Few studies evaluated treatment of female sexual dysfunction following radiotherapy; hormone replacement therapy and the use of vaginal dilator in combination with psycho-educational support is recommended. CONCLUSION Pelvic radiotherapy plays a significant negative role in the complex scenario of male and female sexual dysfunction. The literature has focused on sexual dysfunction and intervention in prostate and cervical cancer patients. Sexual dysfunction following pelvic radiotherapy for cancer in other pelvic organs, e.g., bladder, rectum, and anus, requires more attention in future studies. Health care providers should pay attention to and provide psychological and medical support regarding sexual dysfunction to all patients who have received pelvic radiotherapy.