Evidence on major gene control of cortical index in pedigree data from Middle Dalmatia,Croatia

It was recently reported that the inheritance of the metacarpal cortical index (CI) in the Chuvashian population can be described in terms of a major gene (MG) model. By applying transmission probability tests, the hypothesis was accepted that not only baseline level of CI but also its sex‐specific dependence on age were under control of the same putative large‐effect gene. Using a pedigree sample from the population of the islands of Middle Dalmatia, Croatia (847 observed individuals in 278 pedigrees), data are presented to support the above findings. The following hypotheses were accepted: (i) inheritance of baseline CI in the Croatian population can be attributed to the effect of a MG responsible for about 42% of the variation; (ii) the same MG takes part in the control of the dependence of CI on age, particularly the age at onset of involutive bone changes (inflection point), and of the rate of decrease in CI with age (slope coefficient). Issues related to the assortative mating effect on CI and the determination of the most parsimonious model are discussed. Am. J. Hum. Biol. 13:398–408, 2001. © 2001 Wiley‐Liss, Inc.     

Beneficial effect of a novel pentadecapeptide BPC 157 on gastric lesions induced by restraint stress,ethanol, indomethacin,and capsaicin neurotoxicity

Very recently, the integrity of capsaicin somatosensory neurons and their protection were suggested to be related to the activity in nociception of a newly discovered 15-amino acid peptide, BPC 157, shown to have strong beneficial effect on intestinal and liver lesions. Therefore, from this viewpoint, we have studied the gastroprotective effect of the pentadecapeptide BPC 157, on gastric lesions produced in rats by 96% ethanol, restraint stress, and indomethacin. The possible involvement of sensory neurons in the salutary actions of BPC 157 (10µg/kg, 10 ng/kg intraperitoneally) was studied with capsaicin, which has differential effects on sensory neurons: a high dose in adult (125 mg/kg subcutaneously, 3 months old) or administration (50 mg/kg subcutaneously) to neonatal animals (age of the 7 days) destroys sensory fibers, whereas a low dose (500µg/kg intraperitoneally) activates neurotransmitter release and protective effects on the mucosa. In the absence of capsaicin, BPC 157 protected gastric mucosa against ethanol, restraint, and indomethacin application. In the presence of neurotoxic doses of capsaicin, the negative influence of capsaicin on restraint, ethanol, or indomethacin lesions consistently affected salutary activity of BPC 157. However, BPC 157 protection was still evident in the capsaicin-treated rats (either treated as adults or as newborns) in all of these assays. Interestingly, after neonatal capsaicin treatment, a complete abolition of BPC gastroprotection was noted if BPC 157 was applied as a single nanogram-regimen, but the mucosal protection was fully reversed when the same dose was used daily. In line with the excitatory dose of capsaicin the beneficial effectiveness of BPC 157 appears to be increased as well. Taken together, these data provide evidence for complex synergistic interaction between the beneficial effectiveness of BPC 157 and peptidergic sensory afferent neuron activity.     

Prevalence of Intimate Partner Violence among Women Veterans who Utilize Veterans Health Administration Primary Care

OBJECTIVES

The objectives of this study were to identify the prevalence of past-year intimate partner violence (IPV) among women Veterans utilizing Veterans Health Administration (VHA) primary care, and to document associated demographic, military, and primary care characteristics.

DESIGN

This was a retrospective cohort design, where participants completed a telephone survey in 2012 (84% participation rate); responses were linked to VHA administrative data for utilization in the year prior to the survey.

PARTICIPANTS

A national stratified random sample of 6,287 women Veteran VHA primary care users participated in the study.

MAIN MEASURES

Past-year IPV was assessed using the HARK screening tool. Self-report items and scales assessed demographic and military characteristics. Primary care characteristics were assessed via self-report and VHA administrative data.

KEY RESULTS

The prevalence of past-year IPV among women Veterans was 18.5% (se?=?0.5%), with higher rates (22.2% - 25.5%) among women up to age 55. Other demographic correlates included indicators of economic hardship, lesbian or bisexual orientation, and being a parent/guardian of a child less than 18 years old. Military correlates included service during Vietnam to post-Vietnam eras, less than 10 years of service, and experiences of Military Sexual Trauma (MST). Most (77.3%, se?=?1.2%) women who experienced IPV identified a VHA provider as their usual provider. Compared with women who did not report past-year IPV, women who reported IPV had more primary care visits, yet experienced lower continuity of care across providers.

CONCLUSIONS

The high prevalence of past-year IPV among women beyond childbearing years, the majority of whom primarily rely on VHA as a source of health care, reinforces the importance of screening all women for IPV in VHA primary care settings. Key considerations for service implementation include sensitivity with respect to sexual orientation, race/ethnicity, and other aspects of diversity, as well as care coordination and linkages with social services and MST-related care.

     

Fertility-sparing surgery for patients with malignant ovarian germ cell tumors: 10 years of clinical experience from a tertiary referral center

Archives of Gynecology and Obstetrics - To describe a case series of patients with malignant ovarian germ cell tumors (MOGCT) treated exclusively with fertility-sparing surgery (FSS) with or...     

Segmental response of the lower esophageal sphincter to increased intragastric pressure

An important controversy exists concerning the adaptive capacity of the lower esophageal sphincter (LES) in response to increases in intragastric pressure. This capacity would characterize the LES as a dynamic element in preventing gastroesophageal reflux (GER). This physiological property was studied in 15 male cats using an experimental model in which the gastroesophageal antireflux barrier was generated eyclusively by the intrinsic tone of the LES. Under these conditions, the intragastric pressure (GP) and sphincter pressure (LESP) were measured by electromanometric procedures. When the gastric lumen was perfused with known volumes (25, 50, 75, 100, 125, 150 ml) of saline solution, increases in GP and LESP were observed. Both pressures increased slowly as the gastric volume rose, and when both values were equal, GER appeared. Studying the physiological properties of the LES by direct methods in this model, we conclude that (a) there is segmental pressure response of the LES when faced with direct opening stimulation such as an increase in GP; and (b) the increase in LES resting tone has a linear relation with the increase in GP.     

Association of Tagging Single Nucleotide Polymorphisms on 8 Candidate Genes in Dopaminergic Pathway with Schizophrenia in Croatian Population

Aim

To perform a comprehensive evaluation of association of common genetic variants in candidate genes in the dopaminergic pathway with schizophrenia in a sample from Croatian population.

Methods

A case-control association study was performed on 104 unrelated patients with schizophrenia recruited from a psychiatric hospital in Zagreb and 131 phenotypically normal Croatian subjects. Forty-nine tagging single nucleotide polymorphisms (tagSNPs) in 8 candidate genes in the dopaminergic pathway were identified from the HapMap database and tested for association. Genotyping was performed using the SNPlex platform. Statistical analysis was conducted to assess allelic and genotypic associations between cases and controls using a goodness of fit χ² test and trend test, respectively; adjustment for multiple testing was done by permutation based analysis.

Results

Significant allele frequency differences between schizophrenia cases and controls were observed at 4 tagSNPs located in the genes DRD5, HTR1B1, DBH, and TH1 (P < 0.005). A trend test also confirmed the genotypic association (P < 0.001) of these 4 tagSNPs. Additionally, moderate association (P < 0.05) was observed with 8 tagSNPs on SLC6A3, DBH, DRD4, SLC6A4, and COMT.

Conclusions

Common genetic variants in genes involved in the dopaminergic pathway are associated with schizophrenia in the populations of Caucasian descent.Schizophrenia is a chronic, severe, and disabling brain disease affecting about 1% of the global population (1). There is substantial evidence that genetic factors are involved in the etiology of the disease (2). High heritability (~ 80%) and higher concordance in monozygotic (~ 50%) than in dizygotic (~ 17%) twins are strong indicators for an inherited basis of schizophrenia (3-5). During the past decade, numerous loci and plausible candidate genes have been identified by linkage and association studies. However, the findings have remained inconclusive (2,6). Like other complex diseases, a complex genetic etiology compounded by involvement of other non-genetic factors has hindered the precise identification of schizophrenia gene variants. Second, a major limitation in most association studies has been testing of a few variants within a gene of interest rather than a thorough assessment of the entire gene region. With the availability of the sequence of the genome and large body of data on human genetic variation from the HapMap project (7), it is now possible to undertake more comprehensive association studies.Genes involved in the dopamine pathway are biologically plausible candidates in schizophrenia susceptibility. In this study, we report on the association of single nucleotide polymorphisms (SNPs) in 8 dopaminergic genes (DRD4, DRD5, SLC6A3, SLC6A4, HTR1B, DBH, TH, and COMT) with schizophrenia in a Caucasian sample from Croatia. We performed a comprehensive association study using tagging SNPs (tagSNPs). Overall, 49 tagSNPs were identified from the HapMap database (7), 4 of which showed strong evidence of association with schizophrenia susceptibility.     

Repeat test scores on neurobehavioral measures over an eight-year period in a sample of Portuguese children

Normative data were collected on a sample of 503 Portuguese children who were taking part in a dental study. At the outset, the children were aged 8-11.9 years, with an average of just over 10. A standard battery of neurobehavioral tests covering learning and memory, visual-motor function, and attention was administered at baseline and during seven subsequent years. Normative test data are presented separately by gender and by age at study inception (younger versus older). Results provide normative data for use in clinical settings, where dissociations in performance between cognitive domains need to be identified for diagnostic and therapeutic purposes.