Aggression in social networks and adolescence. State of the art from a bibliometric perspective / Agresión en las redes y adolescencia: estado actual en américa latina desde una perspectiva bibliométrica

RESUMEN Se revisaron publicaciones sobre el comportamiento agresivo de adolescentes latinoamericanos mediados por la virtualidad, indexados, en el periodo de 2016 a 2018. Se trató de un estudio bibliométrico, descriptivo y retrospectivo. La búsqueda se realizó en septiembre de 2018 en las bases Scopus, Redalyc, Scielo y Lilacs. De 8856 abstracts, se analizaron 17 artículos que cumplían los criterios de inclusión: publicados en español, portugués e inglés, cuyos autores fueran latinoamericanos o analizaran empíricamente muestras de adolescentes residentes en América Latina. Se observó una creciente producción en los años analizados, particularmente en estudios instrumentales y cuantitativos. La autoría era conjunta con vinculación interinstitucional. El mayor número de trabajos se observó en México, Colombia y Brasil. No se encontró una prueba que evaluara ciberbullying validada para la región norte de Argentina. Se identificaron variables psicopatológicas asociadas, como comportamientos suicidas, esquemas desadaptativos y violencia de pareja. Se vincularon variables salutogénicas, como las estrategias de afrontamiento y las competencias emocionales. La evidencia científica mostró los escasos estudios sobre el tema.

ABSTRACT Indexed publications (2016-2018) about Latin-American adolescents' aggressive behaviour via Internet were examined. It was a retrospective, bibliometric and descriptive analysis. The search was carried out in September 2018 on the Scopus, Redalyc, Scielo and Lilacs databases. Out of 8856 abstracts, 17 articles which met the inclusion criteria were analysed: published in Spanish, Portuguese and English, whose authors were Latin American or empirically analyzed samples of adolescents residing in Latin America. A growing production in the period analysed, particularly in instrumental and quantitative studies, was observed. The co-authorship was with inter-institutional collaboration. The greatest number of studies was found in Mexico, Colombia and Brazil. No validated tests to measure cyber-bullying in the north of Argentina were found. Associated psychopathological variables, such as suicidal behaviour, maladaptive schemas and intimate partner violence, were identified. Salutogenic variables, such as coping strategies and emotional competence, were linked. The scientific evidence showed the lack of studies on the subject.

Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.

STUDY QUESTION: What is the diagnostic potential of next generation sequencing (NGS) based on a 'mouse azoospermia' gene panel in human non-obstructive azoospermia (NOA)? SUMMARY ANSWER: The diagnostic performance of sequencing a gene panel based on genes associated with mouse azoospermia was relatively successful in idiopathic NOA patients and allowed the discovery of two novel genes involved in NOA due to meiotic arrest. WHAT IS KNOWN ALREADY: NOA is a largely heterogeneous clinical entity, which includes different histological pictures. In a large proportion of NOA, the aetiology remains unknown (idiopathic NOA) and yet, unknown genetic factors are likely to play be involved. The mouse is the most broadly used mammalian model for studying human disease because of its usefulness for genetic manipulation and its genetic and physiological similarities to man. Mouse azoospermia models are available in the Mouse Genome Informatics database (MGI: http://www.informatics.jax.org/). STUDY DESIGN, SIZE, DURATION: The first step was to design of a 'mouse azoospermia' gene panel through the consultation of MGI. The second step was NGS analysis of 175 genes in a group of highly selected NOA patients (n = 33). The third step was characterization of the discovered gene defects in human testis tissue, through meiotic studies using surplus testicular biopsy material from the carriers of the RNF212 and STAG3 pathogenic variants. The final step was RNF212 and STAG3 expression analysis in a collection of testis biopsies. PARTICIPANTS/MATERIALS, SETTING, METHODS: From a total of 1300 infertile patients, 33 idiopathic NOA patients were analysed in this study, including 31 unrelated men and 2 brothers from a consanguineous family. The testis histology of the 31 unrelated NOA patients was as follows: 20 Sertoli cell-only syndrome (SCOS), 11 spermatogenic arrest (6 spermatogonial arrest and 5 spermatocytic arrest). The two brothers were affected by spermatocytic arrest. DNA extracted from blood was used for NGS on Illumina NextSeq500 platform. Generated sequence data was filtered for rare and potentially pathogenic variants. Functional studies in surplus testicular tissue from the carriers included the investigation of meiotic entry, XY body formation and metaphases by performing fluorescent immunohistochemical staining and immunocytochemistry. mRNA expression analysis through RT-qPCR of RNF212 and STAG3 was carried out in a collection of testis biopsies with different histology. MAIN RESULTS AND THE ROLE OF CHANCE: Our approach was relatively successful, leading to the genetic diagnosis of one sporadic NOA patient and two NOA brothers. This relatively high diagnostic performance is likely to be related to the stringent patient selection criteria i.e. all known causes of azoospermia were excluded and to the relatively high number of patients with rare testis histology (spermatocytic arrest). All three mutation carriers presented meiotic arrest, leading to the genetic diagnosis of three out of seven cases with this specific testicular phenotype. For the first time, we report biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of NOA. Meiotic studies allowed the detection of the functional consequences of the mutations and provided information on the role of STAG3 and RNF212 in human male meiosis. LIMITATIONS, REASONS FOR CAUTION: All genes, with the exception of 5 out of 175, included in the panel cause azoospermia in mice only in the homozygous or hemizygous state. Consequently, apart from the five known dominant genes, heterozygous variants (except compound heterozygosity) in the remaining genes were not taken into consideration as causes of NOA. We identified the genetic cause in approximately half of the patients with spermatocytic arrest. The low number of analysed patients can be considered as a limitation, but it is a very rare testis phenotype. Due to the low frequency of this specific phenotype among infertile men, our finding may be considered of low clinical impact. However, at an individual level, it does have relevance for prognostic purposes prior testicular sperm extraction. WIDER IMPLICATIONS OF THE FINDINGS: Our study represents an additional step towards elucidating the genetic bases of early spermatogenic failure, since we discovered two new genes involved in human male meiotic arrest. We propose the inclusion of RNF212 and STAG3 in a future male infertility diagnostic gene panel. Based on the associated testis phenotype, the identification of pathogenic mutations in these genes also confers a negative predictive value for testicular sperm retrieval. Our meiotic studies provide novel insights into the role of these proteins in human male meiosis. Mutations in STAG3 were first described as a cause of female infertility and ovarian cancer, and Rnf212 knock out in mice leads to male and female infertility. Hence, our results stimulate further research on shared genetic factors causing infertility in both sexes and indicate that genetic counselling should involve not only male but also female relatives of NOA patients. STUDY FUNDING/COMPETING INTEREST(S): This work was funded by the Spanish Ministry of Health Instituto Carlos III-FIS (grant number: FIS/FEDER-PI14/01250; PI17/01822) awarded to CK and AR-E, and by the European Commission, Reproductive Biology Early Research Training (REPROTRAIN, EU-FP7-PEOPLE-2011-ITN289880), awarded to CK, WB, and AE-M. The authors have no conflict of interest.

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused by deletions or point mutations of EYA1. A single family with an autosomal recessive form of OFCS and a homozygous missense mutation in PAX1 gene has been described. We report whole exome sequencing of 4 members of a consanguineous family in which 2 children, showing features of OFCS, expired from severe combined immunodeficiency (SCID). To date, the co-occurrence of OFCS and SCID has never been reported. We found a nonsense homozygous mutation in PAX1 gene in the 2 affected children. In mice, Pax1 is required for the formation of specific skeletal structures as well as for the development of a fully functional thymus. The mouse model strongly supports the hypothesis that PAX1 depletion in our patients caused thymus aplasia responsible for SCID. This report provides evidence that bi-allelic null PAX1 mutations may lead to a multi-system autosomal recessive disorders, where SCID might represent the main feature.

Estimating Energy Expenditure using Individualized, Power-Specific Gross Efficiencies.

Our purpose was to determine if using an individual's power-specific gross efficiency improves the accuracy of estimating energy expenditure from cycling power. 30 subjects performed a graded cycling test to develop 4 gross efficiencies: individual power-specific gross efficiencies, a group mean power-specific gross efficiency, individual fixed gross efficiencies, and a group mean fixed gross efficiency. Energy expenditure was estimated from power using these different gross efficiencies and compared to measured energy expenditure during moderate- and hard-intensity constant-power and 2 variable-power cycling bouts. Estimated energy expenditures using individual or group mean power-specific gross efficiencies were not different from measured energy expenditure across all cycling bouts (p>0.05). To examine the intra-individual variability of the estimates, absolute difference scores (absolute value of estimated minus measured energy expenditure) were compared, where values closer to zero represent more accurate individual estimates. The absolute difference score using individual power-specific gross efficiencies was significantly lower compared to the other gross efficiencies across all cycling bouts (p<0.01). Significant and strong correlations (r≥0.97, p<0.001) were found across all cycling bouts between estimated and measured energy expenditures using individual power-specific gross efficiencies. In conclusion, using an individual's power-specific gross efficiency significantly improves their energy expenditure estimate across different power outputs.

Profile changes following lower incisor repositioning: a comparison between patients with different growth pattern.

AIM: Individual growth changes might play a large role in the variability of treatment results for the soft-tissue profile. The aim of this study is to evaluate the real existence of the relationship between the repositioning of lower incisors, evaluated by Frankfort Mandibular Incisor Angle (FMIA), and the enhancement of profile, evaluated by the angle formed by its intersection with Frankfort plane (Z-angle). We finally compared this relationship in patients with different growth pattern. METHODS: A sample of 81 subjects all treated with Merrifield Directional Force System was divided in two group on the basis of INDEX value (ratio between posterior and anterior facial height): Group 1 (INDEX value ≤0.65, non-favorable growth pattern) and Group 2 (INDEX value >0.65, favorable growth pattern). Differences between post-treatment and pre-treatment values of FMIA and Z-angle were calculated for each group and was named respectively ∆ FMIA and ∆ Z-angle. A ratio between ∆ Z-angle and ∆ FMIA was also calculated. RESULTS: The results of this study show a statistically significant correlation between lower incisors uprighting and profile outcome. A statistically significant difference between Group 1 and Group 2 was not found. CONCLUSION: These results underline the difficulty to quantify and separate the effects of growth and orthodontic treatment of growing patients in determining the final facial configuration.

Emerging issues on selection criteria of levodopa carbidopa infusion therapy: considerations on outcome of 28 consecutive patients.

Many studies confirmed the efficacy and safety of continuous infusion of intrajejunal levodopa/carbidopa gel (CIILG) for advanced Parkinson's disease (PD). Although this treatment is widely used, definite inclusion/exclusion criteria do not exist. In this prospective open-label study, we evaluated the long-term outcome in 28 consecutive patients and sought to detect any predictive factor to identify the best candidates for CIILG therapy. The assessment was carried out routinely at baseline, after 6 months and every year with UPDRS III-IV, FOG Questionnaire, non-motor symptoms scale, PD questionnaire (PDQ-8), cognitive and psychiatric status evaluation (MMSE, FAB, NPI) and caregiver's quality of life. 17/28 patients reached the 24-month follow-up. A statistically significant beneficial effect was shown on motor complications in short- and long-term follow-up, also on axial symptoms like gait disturbances. A concomitant improvement in PDQ8 score was observed, with a parallel mild amelioration, but not significant, on Caregivers QoL. When classified according to their outcome on QoL, the only predictive positive factor was less severe at Neuropsychiatric Inventory (NPI) score at baseline. Considering the improvement in motor scores (duration of "off" period), the more advanced age was associated with a poorer outcome. Our results confirmed a sustained efficacy and safety in long-term follow-up and suggest that younger age at operation and absence or mild presence of psychiatric/behavioural symptoms could be considered valid predicting factors in selecting the best candidates for this efficacious therapy.

Clinical and genetic study of 46 Italian patients with primary lymphedema.

Primary lymphedema is characterized by altered morphological development of lymphatic vessels causing fluid accumulation in interstitial spaces. In familial forms, it is primarily transmitted as a dominant Mendelian trait with heterozygous mutations in genes involved in lymphangiogenesis. We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms. We identified 12 mutations in 12 patients (12/46, 26%), six in the FLT4 gene and six in the FOXC2 gene. Most of the mutations (9/12, 75%) were new, and none were identified in 100 healthy subjects or listed in the NCBI dbSNP. A clear relation emerged between genotype and phenotype because 4/5 (80%) probands with onset at birth showed FLT4 mutations and 4/5 (80%) probands without distichiasis and with FOXC2 mutations had an amino-acid substitution outside the forkhead domain. Besides the allelic heterogeneity shown by unique mutations in each proband, the absence of mutations in almost 75% of familial cases of primary lymphedema also suggests genetic heterogeneity.

Evaluación, intervención y cambio cognitivo: un abordaje innovador en niños privados culturalmente / Assessment, intervention and cognitive change: an innovative approach to culturally deprived children

Se estudia la modificabilidad cognitiva de niños que viven bajo condiciones de pobreza de Tucumán, Argentina. Se enfoca la Evaluación Psicológica de las habilidades cognitivas desde una metodología Test-Intervención-Postest. Los objetivos fueron describir y comparar las habilidades cognitivas en las fases Test y Postest a partir del rendimiento en las pruebas administradas, en los grupos clínico y control. Los instrumentos utilizados fueron los subtests Analogías y Construcción con Cubos de la Escala de Inteligencia de Wechsler para niños, tercera edición (WISC-III), y una Encuesta sociodemográfica. Al contrastar los resultados de fases Test y Postest, entre ambos grupos, se hallaron diferencias significativas en las pruebas administradas que permiten inferir que la Intervención favoreció la modificabilidad cognitiva en los niños del grupo clínico.(AU)

Evaluación, intervención y cambio cognitivo: un abordaje innovador en niños privados culturalmente / Assessment, intervention and cognitive change: an innovative approach to culturally deprived children

Se estudia la modificabilidad cognitiva de niños que viven bajo condiciones de pobreza de Tucumán, Argentina. Se enfoca la Evaluación Psicológica de las habilidades cognitivas desde una metodología Test-Intervención-Postest. Los objetivos fueron describir y comparar las habilidades cognitivas en las fases Test y Postest a partir del rendimiento en las pruebas administradas, en los grupos clínico y control. Los instrumentos utilizados fueron los subtests Analogías y Construcción con Cubos de la Escala de Inteligencia de Wechsler para niños, tercera edición (WISC-III), y una Encuesta sociodemográfica. Al contrastar los resultados de fases Test y Postest, entre ambos grupos, se hallaron diferencias significativas en las pruebas administradas que permiten inferir que la Intervención favoreció la modificabilidad cognitiva en los niños del grupo clínico.