Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a Prospective follow-up study

BACKGROUND: Recent statistical approaches based on factor analysis of obsessive compulsive (OC) symptoms in adult patients have identified dimensions that seem more effective in symptom-based taxonomies and appear to be more stable over time. Although a phenotypic continuum from childhood to adulthood has been hypothesized, no factor analytic studies have been performed in juvenile patients, and the stability of OC dimensions in children and adolescents has not been assessed. METHODS: This study was designed to perform an exploratory factor analysis of OC symptoms in a sample of children and adolescents with OC disorder (OCD) and to investigate the course of factors over time (mean follow-up period: four years). RESULTS: We report for the first time that four symptom dimensions, remarkably similar to those previously described in adults, underlined the heterogeneity of OC symptoms in children and adolescents. Moreover, after follow-up, the symptom dimensions identified remained essentially unmodified. The changes observed concerned the intensity of dimensions rather than shifts from one dimension to another. CONCLUSION: These findings reinforce the hypothesis of a phenotypic continuum of OC symptoms from childhood to adulthood. They also strengthen the interest for investigating the clinical, neurobiological and genetic heterogeneity of OCD using a dimension-based approach

High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa

Rodrigo Vivo, Lorena, [email protected] ; Prados Dodd, Nicolas, [email protected] ; Gil Salom, Manuel Luis, [email protected] ; Remohi Gimenez, Jose Alejandro, [email protected]

Symptom Dimensions in OCD: Item-Level Factor Analysis and Heritability Estimates

To reduce the phenotypic heterogeneity of obsessive-compulsive disorder (OCD) for genetic, clinical and translational studies, numerous factor analyses of the Yale-Brown Obsessive Compulsive Scale checklist (YBOCS-CL) have been conducted. Results of these analyses have been inconsistent, likely as a consequence of small sample sizes and variable methodologies. Furthermore, data concerning the heritability of the factors are limited. Item and category-level factor analyses of YBOCS-CL items from 1224 OCD subjects were followed by heritability analyses in 52 OCD-affected multigenerational families. Item-level analyses indicated that a five factor model: (1) taboo, (2) contamination/cleaning, (3) doubts, (4) superstitions/rituals, and (5) symmetry/hoarding provided the best fit, followed by a one-factor solution. All 5 factors as well as the one-factor solution were found to be heritable. Bivariate analyses indicated that the taboo and doubts factor, and the contamination and symmetry/hoarding factor share genetic influences. Contamination and symmetry/hoarding show shared genetic variance with symptom severity. Nearly all factors showed shared environmental variance with each other and with symptom severity. These results support the utility of both OCD diagnosis and symptom dimensions in genetic research and clinical contexts. Both shared and unique genetic influences underlie susceptibility to OCD and its symptom dimensions.Obsessive Compulsive FoundationTourette Syndrome AssociationAnxiety Disorders Association of AmericaAmerican Academy of Child and Adolescent Psychiatr

Lisinopril, an angiotensin converting enzyme inhibitor for the treatment of idiopathic oligospermia: a randomized controlled trial

Background: Oligospermia or low concentration of sperm is a common finding in male infertility. Alterations in the expression of angiotensin converting enzyme (ACE) may be one of the mechanisms underlying male infertility and ACE inhibitors may improve the sperm count. The objective was to compare the effects of lisinopril and zinc-folic acid with zinc-folic acid alone on idiopathic oligospermia in infertile males.Methods: This randomized controlled trial was conducted in the Department of Reproductive Endocrinology & Infertility of a medical university from March 2021 to February 2022. A total 78 diagnosed cases of infertile males with idiopathic oligospermia were selected for this study. Eligible men who gave their informed consent were randomly allocated to receive either a combination of low dose lisinopril (2.5 mg) and zinc-folic acid or zinc-folic acid alone for 12 weeks. Pretreatment and post treatment semen parameters, including sperm concentration, sperm motility and total motile sperm count were assessed.Results: There was significant rise in sperm concentration and total motile sperm count in both groups but the mean difference in sperm concentration (2.36±2.04 vs 1.53±1.8 million/ml) and total motile sperm count (11.64±8.28 vs 9.95±6.11 million) were higher in those receiving Lisinopril in addition to zinc folic acid. The percentage increase of sperm count was higher (22.65 vs 16.70 million) in this group. Normalization of sperm count (sperm count ≥15 million/ml) was also higher in this group (18.4% vs 8.3%) with relative risk 2.21, 95% CI (0.648-4.56 %).Conclusions: Lisinopril given orally at the dosage of 2.5 mg/day with zinc-folic acid for 12 weeks appears to be well tolerated among men with oligospermia and improves sperm count by a small margin when compared to zinc folic acid only

Sequential cross-species chromosome painting among river buffalo, cattle, sheep and goat: a useful tool for chromosome abnormalities diagnosis within the family Bovidae.

The main goal of this study was to develop a comparative multi-colour Zoo-FISH on domestic ruminants metaphases using a combination of whole chromosome and sub-chromosomal painting probes obtained from the river buffalo species (Bubalus bubalis, 2n = 50,XY). A total of 13 DNA probes were obtained through chromosome microdissection and DOP-PCR amplification, labelled with two fluorochromes and sequentially hybridized on river buffalo, cattle (Bos taurus, 2n = 60,XY), sheep (Ovis aries, 2n = 54,XY) and goat (Capra hircus, 2n = 60,XY) metaphases. The same set of paintings were then hybridized on bovine secondary oocytes to test their potential use for aneuploidy detection during in vitro maturation. FISH showed excellent specificity on metaphases and interphase nuclei of all the investigated species. Eight pairs of chromosomes were simultaneously identified in buffalo, whereas the same set of probes covered 13 out 30 chromosome pairs in the bovine and goat karyotypes and 40% of the sheep karyotype (11 out of 27 chromosome pairs). This result allowed development of the first comparative M-FISH karyotype within the domestic ruminants. The molecular resolution of complex karyotypes by FISH is particularly useful for the small chromosomes, whose similarity in the banding patterns makes their identification very difficult. The M-FISH karyotype also represents a practical tool for structural and numerical chromosome abnormalities diagnosis. In this regard, the successful hybridization on bovine secondary oocytes confirmed the potential use of this set of probes for the simultaneous identification on the same germ cell of 12 chromosome aneuploidies. This is a fundamental result for monitoring the reproductive health of the domestic animals in relation to management errors and/or environmental hazards

Does institutionalization influence perceived metamemory, psychological well-being, and working-memory efficiency in Italian elders? A preliminary study

Background/Purpose: This study was mainly aimed at investigating the impact of institutionalization on working-memory and self-referent metamemory abilities in a sample of cognitively healthy Italian elders. Methods: Fifteen participants (70-91 years old) were recruited from several nursing homes located in Ogliastra, the central eastern area of Sardinia, which is characterized by a higher longevity of its inhabitants. A further sample of 15 community-dwelling elders was recruited in the same areas. The participants were asked to complete several visuospatial and verbal working-memory tasks, and a battery of questionnaires assessing their psychological well-being, general beliefs about global and prospective-memory efficiency, and personal metamnestic abilities. Results: The results showed that, compared with the community-dwelling participants, the institutionalized elders self-rated lower metamemory efficiency, but they trust more general metamemory functions of a stereotypical adult. Furthermore, no differences were found on the well-being measures between the two groups. These outcomes are not biased by social desirability. Conclusion: These findings suggest that institutionalization selectively impacts self-assessed metamemory functions, but not psychological well-being

Objective way to support embryo transfer: a probabilistic decision

STUDY QUESTION Is it feasible to identify factors that significantly affect the clinical outcome of IVF-ICSI cycles and use them to reliably design a predictor of implantation? SUMMARY ANSWER The Bayesian network (BN) identified top-history embryos, female age and the insemination technique as the most relevant factors for predicting the occurrence of pregnancy (AUC, area under curve, of 0.72). In addition, it could discriminate between no implantation and single or twin implantations in a prognostic model that can be used prospectively. WHAT IS KNOWN ALREADY The key requirement for achieving a single live birth in an IVF-ICSI cycle is the capacity to estimate embryo viability in relation to maternal receptivity. Nevertheless, the lack of a strong predictor imposes several restrictions on this strategy. STUDY DESIGN, SIZE, DURATION Medical histories, laboratory data and clinical outcomes of all fresh transfer cycles performed at the International Institute for Reproductive Medicine of Lugano, Switzerland, in the period 2006-2008 (n = 388 cycles), were retrospectively evaluated and analyzed. PARTICIPANTS/MATERIALS, SETTING, METHODS Patients were unselected for age, sperm parameters or other infertility criteria. Before being admitted to treatment, uterine anomalies were excluded by diagnostic hysteroscopy. To evaluate the factors possibly related to embryo viability and maternal receptivity, the class variable was categorized as pregnancy versus no pregnancy and the features included: female age, number of previous cycles, insemination technique, sperm of proven fertility, the number of transferred top-history embryos, the number of transferred top-quality embryos, the number of follicles >14 mm and the level of estradiol on the day of HCG administration. To assess the classifier, the indicators of performance were computed by cross-validation. Two statistical models were used: the decision tree and the BN. MAIN RESULTS AND THE ROLE OF CHOICE The decision tree identified the number of transferred top-history embryos, female age and the insemination technique as the features discriminating between pregnancy and no pregnancy. The model achieved an accuracy of 81.5% that was significantly higher in comparison with the trivial classifier, but the increase was so modest that the model was clinically useless for predictions of pregnancy. The BN could more reliably predict the occurrence of pregnancy with an AUC of 0.72, and confirmed the importance of top-history embryos, female age and insemination technique in determining implantation. In addition, it could discriminate between no implantation, single implantation and twin implantation with the AUC of 0.72, 0.64 and 0.83, respectively. LIMITATIONS, REASONS FOR CAUTION The relatively small sample of the study did not permit the inclusion of more features that could also have a role in determining the clinical outcome. The design of this study was retrospective to identify the relevant features; a prospective study is now needed to verify the validity of the model. WIDER IMPLICATIONS OF THE FINDINGS The resulting predictive model can discriminate with reasonable reliability between pregnancy and no pregnancy, and can also predict the occurrence of a single pregnancy or multiple pregnancy. This could represent an effective support for deciding how many embryos and which embryos to transfer for each couple. Due to its flexibility, the number of variables in the predictor can easily be increased to include other features that may affect implantation. STUDY FUNDING/COMPETING INTERESTS This study was supported by a grant, CTI Medtech Project Number: 9707.1 PFLS-L, Swiss Confederation. No competing interests are declare

SCREENING GENÉTICO PREIMPLANTACIÓN, REVISIÓN CLÍNICA EN PACIENTES CON FISH DE ESPERMATOZOIDES ALTERADO

Este trabajo de fin de grado, consiste en una revisión bibliográfica del screening genético preimplantación (SGP) en pacientes de la Unidad de Genética y Reproducción del Hospital HLA Vistahermosa con factor masculino severo revelado por un análisis de FISH de espermatozoides alterado. El objetivo de esta revisión es analizar la utilidad del SGP en los tratamientos de reproducción asistida; para ello, se ha estudiado la ploidía de los embriones producidos por estos pacientes y se ha medido el impacto del SGP sobre la tasa de embarazo. Los resultados confirman que el porcentaje de embriones aneuploides depende de la indicación de cada paciente y además es mayor en nuestro grupo de estudio que en la población general; sin embargo, no se ha conseguido aumentar la tasa de embarazo en nuestro grupo de estudio con respecto al grupo control. Finalmente, hemos determinado proyecciones futuras que permitan ofrecer un mejor asesoramiento a los pacientes.This final degree project consists of a bibliographic review of the preimplantation genetic screening (PGS) in patients of the Unidad de Genética y Reproducción of the Hospital HLA Vistahermosa with a severe male factor revealed by an altered sperm FISH analysis. The objective of this review is to analyse the utility of PGS in assisted reproduction treatments, and for this purpose, we have studied the embryos ploidy produced by these patients and we have also studied the impact of PGS on pregnancy rate. The results confirm that the percentage of aneuploidy embryos depends on the indication of each patient and it is also higher in our study group than in the general population; however, it has not been possible to increase the pregnancy rate in our study group respect to the control group. Finally, we have determined future projections that allow us to offer better advice to patients