Debut de diabetes tipo 1 en niños durante la pandemia Covid-19 en el Hospital de Pediatría Juan P. Garrahan / Debut of type-1 diabetes in children during the COVID-19 pandemic at Hospital de Pediatría Juan P. Garrahan

Introducción: Según numerosos reportes, la pandemia por COVID­19 aumentó la incidencia de diabetes tipo 1 (DBT1) y cetoacidosis (CAD). Nuestro objetivo fue describir la frecuencia de nuevos casos de DBT1 y su severidad al ingreso en el Hospital J. P. Garrahan durante la pandemia, comparando con el periodo anterior. Material y métodos: Se realizó un estudio descriptivo, observacional, con análisis retrospectivo. Se incluyeron todos los nuevos casos entre 19/03/20- 31/12/21, comparados con el período 19/03/18-31/12/19. El diagnóstico de DBT1, CAD y su severidad se realizó según la International Society for Pediatric and Adolescent Diabetes. Se analizó el requerimiento de cuidados intensivos (UCI), presencia de COVID-19, hemoglobina glicosilada A1C (HbA1C) y autoanticuerpos (GADA, IAA, IA2, ZNT8). Se consideró significativa una p < 0,05. Resultados: En el período 2020-2021 se observó un incremento del 107% de nuevos casos, ingresando 56 pacientes con DBT1. La media y mediana de edad disminuyeron (8 vs 9,1 y 7,7 vs 10,4, respectivamente), con un incremento del 35% de menores de 5 años. Aumentó la frecuencia de CAD severa (41.1% vs 25.9%) y de requerimiento de UCI (17.9% vs 11.1%). La Hb A1C y la glucemia de ingreso mostraron incremento significativo (10.1% vs 12.32%, p<0.003 y 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectivamente). Conclusión: En 2020-2021 se incrementó el número de nuevos casos de DBT1 en nuestra institución. Al ingreso hubo mayor proporción de niños pequeños y casos severos. Las dificultades de acceso a la consulta de atención primaria podrían relacionarse con nuestro hallazgo (AU)

Introduction: Numerous reports have shown that during the COVID-19 pandemic the incidence of type-1 diabetes (T1DB) and ketoacidosis (DKA) increased. The aim of this study was to describe the frequency of new cases and their severity on admission of T1DB at Hospital J. P. Garrahan during the pandemic, compared with the previous period. Material and methods: A descriptive, observational study with a retrospective analysis was conducted. All new cases seen between 19/03/20-31/12/21 were included and compared with the period 19/03/18-31/12/19. The diagnosis of T1DB, DKA, and its severity was made according to the International Society for Pediatric and Adolescent Diabetes. Intensive care (ICU) requirement, presence of COVID-19, glycosylated hemoglobin A1C (HbA1C), and autoantibodies (GADA, IAA, IA2, ZNT8) were analyzed. A p < 0.05 was considered significant. Results: In the period 2020-2021, a 107% increase in new cases was observed including 56 patients with T1DB. Mean and median age decreased (8 vs 9.1 and 7.7 vs 10.4, respectively), with a 35% increase in children under 5 years of age. The frequency of severe DKA (41.1% vs 25.9%) and ICU requirement (17.9% vs 11.1%) increased. Hb A1C and glycemia on admission also showed a significant increase (10.1% vs 12.32%, p<0.003 and 580 mg/dl ± 220 vs 490 mg/dl ± 188; p<0.05, respectively). Conclusion: In 2020-2021 an increase in the number of new cases of T1DB was observed at our institution. On admission, a higher rate of young children and severe cases was found. Difficulties to access primary care may have been related to our finding (AU)

Ruptura de bíceps braquial distal en paciente con COVID-19 / Distal biceps brachii rupture in a patient with COVID-19

Resumen: Introducción: La lesión del tendón distal del bíceps se presenta comúnmente en pacientes masculinos entre la quinta y sexta década de la vida. El mecanismo de la lesión es una contracción excéntrica con el codo en flexión de 90o. Para su tratamiento quirúrgico, en la literatura se describen varias opciones con diferentes abordajes, tipo de sutura a utilizar y diversos métodos de fijación de la reparación del tendón distal de bíceps. Las manifestaciones clínicas musculoesqueléticas del COVID-19 son fatiga, mialgia, artralgia, pero los efectos musculoesqueléticos del COVID-19 continúan siendo poco claros. Caso clínico: Paciente masculino de 46 años, COVID-19 positivo, con una lesión aguda del tendón distal del bíceps y secundaria a un trauma mínimo, sin otros factores de riesgo. El paciente fue tratado quirúrgicamente siguiendo las guías ortopédicas y de seguridad para el paciente y el personal médico debido a la pandemia COVID-19. El procedimiento quirúrgico de la técnica de double tension slide (DTS) con una sola incisión es una opción confiable y en nuestro caso de una baja morbilidad, con pocas complicaciones y una buena opción cosmética. Conclusión: El manejo de patologías ortopédicas en pacientes COVID-19 positivos va en aumento, así como las implicaciones éticas y ortopédicas del manejo de estas lesiones y/o el retraso de su atención durante la pandemia.

Abstract: Introduction: Distal biceps tendon injury commonly occurs in male patients between the fifth and sixth decade of life. The mechanism of the injury is an eccentric contraction with the elbow in flexion of 90 degrees. For its surgical treatment, several options have been described in the literature with different approaches, type of suture to be used and various methods of fixing the repair of the distal biceps tendon. The musculoskeletal clinical manifestations of COVID-19 are fatigue, myalgia, arthralgia, but the musculoskeletal effects of COVID-19 remain unclear. Case report: 46-year-old COVID-19 positive male patient with acute distal biceps tendon injury and secondary to minimal trauma, with no other risk factors. The patient was treated surgically following orthopedic and safety guidelines for the patient and medical staff due to the COVID-19 pandemic. The surgical procedure of the double tension slide (DTS) technique with a single incision in a reliable option and our case of a low morbidity, few complications and a good cosmetic option. Conclusion: The management of orthopedic pathologies in COVID-19 positive patients is increasing as well as the ethical and orthopedic implications of the management of these injuries and/or the delay of their care during the pandemic.

Three new clades of putative viral RNA-dependent RNA polymerases with rare or unique catalytic triads discovered in libraries of ORFans from powdery mildews and the yeast of oenological interest Starmerella bacillaris.

High throughput sequencing allowed the discovery of many new viruses and viral organizations increasing our comprehension of virus origin and evolution. Most RNA viruses are currently characterized through similarity searches of annotated virus databases. This approach limits the possibility to detect completely new virus-encoded proteins with no detectable similarities to existing ones, i.e. ORFan proteins. A strong indication of the ORFan viral origin in a metatranscriptome is the lack of DNA corresponding to an assembled RNA sequence in the biological sample. Furthermore, sequence homology among ORFans and evidence of co-occurrence of these ORFans in specific host individuals provides further indication of a viral origin. Here, we use this theoretical framework to report the finding of three conserved clades of protein-coding RNA segments without a corresponding DNA in fungi. Protein sequence and structural alignment suggest these proteins are distantly related to viral RNA-dependent RNA polymerases (RdRP). In these new putative viral RdRP clades, no GDD catalytic triad is present, but the most common putative catalytic triad is NDD and a clade with GDQ, a triad previously unreported at that site. SDD, HDD, and ADD are also represented. For most members of these three clades, we were able to associate a second genomic segment, coding for a protein of unknown function. We provisionally named this new group of viruses ormycovirus. Interestingly, all the members of one of these sub-clades (gammaormycovirus) accumulate more minus sense RNA than plus sense RNA during infection.

[Distal biceps brachii rupture in a patient with COVID-19]. / Ruptura de bíceps braquial distal en paciente con COVID-19.

INTRODUCTION: distal biceps tendon injury commonly occurs in male patients between the fifth and sixth decade of life. The mechanism of the injury is an eccentric contraction with the elbow in flexion of 90 degrees. For its surgical treatment, several options have been described in the literature with different approaches, type of suture to be used and various methods of fixing the repair of the distal biceps tendon. The musculoskeletal clinical manifestations of COVID-19 are fatigue, myalgia, arthralgia, but the musculoskeletal effects of COVID-19 remain unclear. CASE REPORT: 46-year-old COVID-19 positive male patient with acute distal biceps tendon injury and secondary to minimal trauma, with no other risk factors. The patient was treated surgically following orthopedic and safety guidelines for the patient and medical staff due to the COVID-19 pandemic. The surgical procedure of the double tension slide (DTS) technique with a single incision in a reliable option and our case of a low morbidity, few complications and a good cosmetic option. CONCLUSION: the management of orthopedic pathologies in COVID-19 positive patients is increasing as well as the ethical and orthopedic implications of the management of these injuries and/or the delay of their care during the pandemic.

INTRODUCCIÓN: la lesión del tendón distal del bíceps se presenta comúnmente en pacientes masculinos entre la quinta y sexta década de la vida. El mecanismo de la lesión es una contracción excéntrica con el codo en flexión de 90o. Para su tratamiento quirúrgico, en la literatura se describen varias opciones con diferentes abordajes, tipo de sutura a utilizar y diversos métodos de fijación de la reparación del tendón distal de bíceps. Las manifestaciones clínicas musculoesqueléticas del COVID-19 son fatiga, mialgia, artralgia, pero los efectos musculoesqueléticos del COVID-19 continúan siendo poco claros. CASO CLÍNICO: paciente masculino de 46 años, COVID-19 positivo, con una lesión aguda del tendón distal del bíceps y secundaria a un trauma mínimo, sin otros factores de riesgo. El paciente fue tratado quirúrgicamente siguiendo las guías ortopédicas y de seguridad para el paciente y el personal médico debido a la pandemia COVID-19. El procedimiento quirúrgico de la técnica de double tension slide (DTS) con una sola incisión es una opción confiable y en nuestro caso de una baja morbilidad, con pocas complicaciones y una buena opción cosmética. CONCLUSIÓN: el manejo de patologías ortopédicas en pacientes COVID-19 positivos va en aumento, así como las implicaciones éticas y ortopédicas del manejo de estas lesiones y/o el retraso de su atención durante la pandemia.

Effectiveness of standard cervical physiotherapy plus diaphragm manual therapy on pain in patients with chronic neck pain: A randomized controlled trial.

BACKGROUND: Literature concerning the effect of diaphragm treatment to reduce neck pain symptoms is scarce. Aim of this trial was to investigate the effects of diaphragm manual therapy associated with standard physiotherapy treatment on pain in patients with Chronic Neck Pain (CNP). METHODS: In a private practice clinic, subjects with CNP were randomly assigned to receive three 30-min treatment sessions of standard cervical physiotherapy and Diaphragm Manual Therapy (DMT) or Sham Diaphragm Technique (SDT). Participants and assessors were blinded to the assignment. Primary outcome was pain, secondary outcomes were cervical active range of motion, pain pressure threshold, disability and quality of life measured at baseline, before and after each session, at 3 and 6-months. Adverse events were monitored. A non-parametric multivariate approach (combined permutation test) was applied to assess the effect of the treatment on all the outcomes. An intention to treat analysis was performed. RESULTS: Forty patients were randomly allocated to DMT and SDT groups. Combined permutation test showed a significant higher improvement in DMT group compared to SDT group (p-value = 0.0002). The between-group comparisons on single outcomes showed a statistically significant improvement only for pain pressure threshold on upper trapezius (adjusted p-value = 0.029). No adverse events related to the intervention were registered. CONCLUSIONS: In patients with CNP, addition of diaphragm manual techniques to standard cervical treatment seems to give a better global outcome, but this improvement is of unclear clinical relevance; the primary outcome seems not to have a role. Further studies are needed to confirm and clarify these results. TRIAL REGISTRATION: Release Date: July 18, 2017 Registered in ClinicalTrial.gov database ID: NCT03223285A.

Is pizza sutable to type 1 diabetes? A real life identification of best compromise between taste and low glycemic index in patients on insulin pump.

Opposed to whole wheat (WWP), traditional pizza (TP) is loved by patients with type 1 diabetes mellitus (T1DM) despite causing hyperglycemia. 50 well-trained T1DM patients had higher glucose levels after TP than after WWP or mixed flour pizza, which however was tasty, digestible and metabolically appropriate to break diet monotony.

Inteligencia emocional en la adolescencia: motivación y actividad física / Emotional Intelligence in Adolescence: Motivation and Physical Activity

El propósito de esta investigación fue analizar las relaciones entre la motivación, actividad física y la inteligencia emocional, y determinar en qué medida incide la actividad física en la inteligencia emocional. Participaron un total de 431 sujetos (12-16 años) de distintos centros educativos. Se valoraron los niveles de autodeterminación, niveles de actividad física y la inteligencia emocional. Los resultados mostraron relaciones significativas de carácter positivo entre la actividad física, los niveles de motivación más autodeterminados y las dimensiones interpersonales, adaptabilidad y estado de ánimo de la inteligencia emocional. Además, los análisis de regresión mostraron que los niveles de actividad física predecían la dimensión interpersonal, adaptabilidad y estado de ánimo de la variable inteligencia emocional. Como conclusión, nuestro estudio destaca la importancia que presenta el estado de ánimo y la adaptabilidad emocional, acompañada de los niveles de motivación más autodeterminados, en la realización de la actividad física

The aim of this research was to examine the relationship between motivation, physical activity and emotional intelligence, and test in which degree physical activity influences on emotional intelligence. A sample size of 431 individuals (12-16 years old) from different schools participated in the study. Levels of self-determination, physical activity and emotional intelligence were assessed. Results showed significant relationships between physical activity, levels of self-determination and interpersonal, adaptability and mood state dimension from the emotional intelligence. Moreover, regression analysis revealed that physical activity levels predicted interpersonal, adaptability and mood state dimensions from the emotional intelligence. In conclusion, our study highlights the importance of mood and emotional adaptability, accompanied by more self-determined levels of motivation, in the performance of physical activity

[Neurodevelopmental development with the use of the Ages and Stages Questionnaire (ASQ-3) in monitoring children's health]. / Evolución del neurodesarrollo con el uso del cuestionario de edades y etapas ASQ-3 en el control de salud de niños.

INTRODUCTION: A child's maturational development is an essential aspect in periodic health check-ups. The paediatrician carries out a comprehensive assessment of the child's development, identifying risk factors and systematically investigates any alterations so as to be able to intervene in an early and timely manner. AIM: To assess development with early and systematic detection and intervention by means of health check-ups. SUBJECTS AND METHODS: A prospective study involving 415 children aged 0-60 months was conducted. A longitudinal follow-up was completed for 188 children in whom one or more areas of neurodevelopment had been found to be affected. Referrals, adherence to medical indications and clinical progress were analysed, and the same screening test was repeated one year later with the Ages and Stages Questionnaire, third edition (ASQ-3). RESULTS: Of the total initial sample, 188 children were found to be at risk (45%), of whom only 24 (7%) continued with the neurodevelopmental disorder in the final sample. Communication proved to be the most affected area in both the first and the second tests. A higher prevalence of socio-environmental adversity was also found in patients who presented delayed acquisition of one or more maturational patterns and less recovery with early stimulation indications. CONCLUSION: Early detection and intervention in neurodevelopment allows 83% of children to undergo improvements in the field of prevention-based health monitoring.

TITLE: Evolución del neurodesarrollo con el uso del cuestionario de edades y etapas ASQ-3 en el control de salud de niños.Introducción. El desarrollo madurativo del niño es un aspecto esencial en el control periódico de la salud. El pediatra realiza una valoración integral del desarrollo, reconociendo factores de riesgo, e investiga sus alteraciones de forma sistemática, para intervenir en forma temprana y oportuna. Objetivo. Valorar la evolución con la detección e intervención temprana y sistemática mediante el control de la salud. Sujetos y métodos. Se realizó un estudio prospectivo que incluyó a 415 niños de 0 a 60 meses. Se completó el seguimiento longitudinal de 188 niños en los que se habían encontrado una o más áreas del neurodesarrollo afectadas. Se analizaron las derivaciones realizadas, la adhesión a las indicaciones médicas y la evolución clínica, y se repitió trimestralmente durante un año la misma prueba de detección con el Ages and Stages Questionnaire, tercera edición (ASQ-3). Resultados. Del total de la muestra inicial se encontró a 188 niños en riesgo (45%), de los cuales sólo 24 (7%) persistieron con el trastorno del neurodesarrollo en la muestra final. La comunicación resultó ser el área más afectada, tanto en la primera como en la segunda prueba. Se encontró a su vez una mayor prevalencia de adversidad socioambiental en los pacientes que presentaban retraso en la adquisición de una o más pautas madurativas y menor recuperación con las indicaciones de estimulación temprana. Conclusión. La detección y la intervención temprana en el neurodesarrollo permiten la mejoría en el 83% de los niños en el ámbito del control de salud desde la prevención.

Athletes' perceptions of coaching competency and team conflict in sport teams: A multilevel analysis.

The purpose of this study was to examine the relationship between coaching competency and team conflict, at individual and team levels, over the season. The participants were professional female and male soccer players, who participated in the First and Second Division. A longitudinal study was performed. At Time 1, the sample of participants consisted of 581 soccer players aged between 15 and 39 years. At Time 2, 549 players were recruited from the original sample aged between 15 and 37 years. Finally, at Time 3, the sample comprised 576 players aged between 15 and 37 years. All participants completed a multi-section questionnaire assessing coaching competency (motivation, game strategy, technique competency, and character-building competency) and team conflict (task conflict and relationship conflict). Results showed that both task and relationship conflict increased significantly over time. Multilevel modelling analysis showed that game strategy and character-building competencies negatively predicted both task and relationship conflicts at the individual level, whereas motivation competency was also added as a significant predictor of task conflict at the team level. Moreover, technique competency positively predicted task conflict at the team level. The current study suggests the importance of coaching competency in group dynamics in sport.

Influencia de la formación de los entrenadores sobre la motivación de los deportistas / Influence of coaches training on athletes motivation

El objetivo del estudio era conocer la influencia de las formaciones académica y federativa de los entrenadores sobre los niveles de motivación, diversión, aburrimiento e intención de persistencia en jóvenes deportistas. Para ello, participaron 432 jóvenes con edades entre 10 y 16 años (M = 13,44; DT = 2,92), pertenecientes a disciplinas deportivas individuales (n = 162) y colectivas (n = 270), de género masculino (n = 245) y femenino (n = 187), seleccionados mediante un muestreo por conglomerados. También, participaron 88 entrenadores deportivos, con edades entre los 20 y 56 años (M = 35,79; DT = 9,58). Se llevó a cabo un análisis de diferencias en función de la cualificación académica y federativa de los entrenadores. Los resultados señalaron que los deportistas dirigidos por entrenadores sin formación federativa presentaban mayores niveles de desmotivación. Asimismo, los deportistas entrenados por técnicos sin titulación académica obtuvieron mayores puntuaciones en las regulaciones extrínsecas (identificada y externa). Por tanto, los hallazgos respaldan parcialmente la relevancia de la formación de los entrenadores, obteniéndose diferencias en regulaciones alejadas del máximo nivel de autodeterminación (externa), desmotivación y aburrimiento (AU)

The aim of the study was to examine the influence of the coaches´ academic and federative training on motivation, enjoyment, boredom and intention to persist levels in youth athletes. Participants were 432 youth athletes (male = 245, female = 187) ranged from 10 to 16 years old (M = 13.44; SD = 2.92) who participated in individual (n = 163) and collectives sports (n = 270) selected by cluster sampling. Moreover, 88 sport coaches, ranged from 20 to 56 years old (M = 35,79; SD = 9,58), participated in the study. An analysis of differences with regard to academic and federative coaches´ qualification was conducted. Results revealed that athletes trained by coaches without federative training showed greater amotivation levels. Moreover, individuals trained by coaches without academic qualification had higher scores in extrinsic regulation (identified and external). Therefore, findings partially supported the relevance of coaches’ qualification levels, due to the differences found in some extrinsic regulations (external), amotivation and boredom (AU)

Isolation, identification and oenological characterization of non-Saccharomyces yeasts in a Mediterranean island.

UNLABELLED: We isolated, identified and characterized yeast strains from grapes, and their fermented musts, sampled in the small island of Linosa, where there are no wineries and therefore the possibility of territory contamination by industrial strains is minimal. By traditional culture-dependent methods, we isolated 3805 colonies, distinguished by molecular methods in 17 different species. Five hundred and forty-four isolates were analysed for the main oenological characteristics such as fermentative vigour with and without sulphites, sugar consumption and production of alcohol, volatile acidity, hydrogen sulphide, glycerol and ß-glucosidase. This analysis identified Kluyveromyces marxianus (seldomly used in winemaking) as the most interesting candidate yeast for the production of innovative wines. SIGNIFICANCE AND IMPACT OF THE STUDY: In recent years, interest is growing for wine production by non-Saccharomyces yeasts, both in research and in the industry. This study describes the yeast population of the grapes in a small-secluded island in the Mediterranean Sea, useful site for the search of new strains. Evaluation of fundamental oenological characters identifies potential best yeasts to assay in experimental vinifications. We also describe, for the first time, 14 new colony morphologies on WL Nutrient Agar, culture medium used to monitor the yeast population dynamics.

Niveles de ansiedad de médicos residentes / Anxiety levels in medical residents

Introducción: La residencia médica es un período de riesgo para el desarrollo de problemas de salud mental. Los estudios de ansiedad en residentesson contrastantes; sin embargo, se cree que los niveles de ansiedad son altos ya que los programas se desarrollan en hospitales nacionales que carecende recursos fsicos, materiales y humanos. El objetvo del presente estudio es determinar los niveles de ansiedad en médicos residentes en diferentesespecialidades empleando el cuestonario inventario de la ansiedad rasgo-estado (IDARE).Métodos: Se administró una encuesta electrónica para determinar el nivel de ansiedad en médicos residentes en diferentes especialidades del HospitalGeneral San Juan de Dios.Resultados: Se obtuvieron 132 encuestas para el análisis. La mayoría de los médicos encuestados son hombres (59%), solteros (83%) que no tenendependientes (79%), cursan residencia de cirugía o medicina interna (54%), trabajan más de 80 horas por semana (85%) y viajan menos de una horapara llegar al lugar de residencia (67%). El promedio del nivel de ansiedad-estado de los médicos residentes fue 46.94 puntos, mientras que el nivelpromedio de ansiedad-rasgo fue de 42.77 puntos. El 35% de los residentes poseen niveles de ansiedad medio y 59% altos en el momento de responderla encuesta; y el 56% posee niveles de ansiedad medio y 37% alto generalmente. No se encontró diferencia estadístcamente signifcatva en los nivelesde ansiedad en base a género, estado civil, tpo de residencia, dependientes y horas de tráfco. La única variable asociada con ansiedad fue la cantdadde horas de trabajo por semana.Conclusiones: La mayoría de los residentes encuestados poseen niveles de ansiedad medio-altos, la única variable asociada con niveles de ansiedadfue la cantdad de horas de trabajo por semana.

Background: Medical residency is a risky period for the development of mental health problems. Although anxiety studies in medical residents areinconclusive; we hypothesize anxiety levels in residents are high, since residency programs are developed in community hospitals that lack material andhuman resources. The aim of this study is to determine the levels of anxiety in medical residents of diferent specialtes using the State Trait-AnxietyInventary (STAI).Methods: An electronic poll with STAI was administered to medical residents of diferent specialtes of a tertary referral hospital.Results: We received 132 questonnaires for analysis. Most of the respondents are men (59%), single (83%), without dependents (79%), belong tosurgical or internal medicine residency (54%), work more than 80 hours per week (85%) and travel less than an hour to get to the hospital (67%). Theaverage level of state anxiety of the residents was 46.94 points, while the average level of trait anxiety was 42.77 points. Thirty fve percent of theresidents have medium anxiety levels and 59% high anxiety levels at the tme they answered the inventory; and 56% have medium anxiety levels and37% have high anxiety levels as a trait. We did not found a statstcal diference in anxiety levels based on gender, marital status, and type of residency,number of dependents or number of hours spent in trafc. The only variable that was associated with anxiety was the amount of work hours per week.Conclusions: Most of the residents have medium-high levels of anxiety; the only variable associated with anxiety levels was the amount of work hoursper week

Interaction between PARP-1 and HIF-2α in the hypoxic response.

Hypoxia-inducible factors (HIFs) mediate the transcriptional adaptation of hypoxic cells. The extensive transcriptional programm regulated by HIFs involves the induction of genes controlling angiogenesis, cellular metabolism, cell growth, metastasis, apoptosis, extracellular matrix remodeling and others. HIF is a heterodimer of HIF-α and HIF-ß subunits. In addition to HIF-1α, HIF-2α has evolved as an isoform that contributes differently to the hypoxic adaptation by performing non-redundant functions. Poly (ADP-ribose) polymerase-1 (PARP-1) is a nuclear protein involved in the control of DNA repair and gene transcription by modulating chromatin structure and acting as part of gene-specific enhancer/promoter-binding complexes. Previous results have shown that PARP-1 regulates HIF-1 activity. In this study, we focused on the cross-talk between HIF-2α and PARP-1. By using different approaches to suppress PARP-1, we show that HIF-2α mRNA expression, protein levels and HIF-2-dependent gene expression, such as ANGPTL4 and erythropoietin (EPO), are regulated by PARP-1. This regulation occurs at both the transcriptional and post-trancriptional level. We also show a complex formation between HIF-2α with PARP-1. This complex is sensitive to PARP inhibition and seems to protect against the von Hippel-Lindau-dependent HIF-2α degradation. Finally, we show that parp-1(-/-) mice display a significant reduction in the circulating hypoxia-induced EPO levels, number of red cells and hemoglobin concentration. Altogether, these results reveal a complex functional interaction between PARP-1 and the HIF system and suggest that PARP-1 is involved in the fine tuning of the HIF-mediated hypoxic response in vivo.

Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal / Sotos syndrome: a novel nonsense mutation in nsd1 gene, presenting with neonatal cutis laxa

El síndrome de Sotos se caracteriza por sobrecrecimiento con facies peculiar, macrocefalia, talla alta y alteraciones del desarrollo psicomotor. Presentamos a un paciente de 20 meses de edad con diagnóstico confirmado por genética molecular con detección de mutación nonsense en el gen NSD1 no descrita previamente, exhibiendo cutis laxa como la característica fenotípica más llamativa en el periodo neonatal. Esta asociación se había descrito previamente en 3 pacientes con diagnóstico clínico de síndrome de Sotos sin diagnóstico molecular confirmatorio. En nuestro paciente, la presencia de cutis laxa llevó al diagnóstico diferencial con los defectos congénitos de glucosilación. En el seguimiento posnatal presentó una somatometría con perímetro cefálico y talla mayores de p97 (cercano a p50 al nacimiento), junto con el desarrollo de rasgos fenotípicos característicos del síndrome de Sotos durante los primeros meses de vida, los que proporcionaron la clave para el diagnóstico clínico y la investigación molecular (AU)

Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients with a clinical diagnosis of Sotos syndrome, without confirmatory molecular analysis. Our patient was tested for congenital disorders of glycosilation as part of the cutis laxa differential diagnosis. During the postnatal follow-up period the head circumference and height became greater than 97th percentile (having been close to the 50th in the newborn period). These facts and the progressive development of characteristic phenotypic features of Sotos syndrome during the first months of life gave us the clue for the clinical diagnosis and the molecular investigation (AU)

[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa]. / Síndrome de Sotos: nueva mutación «sin sentido¼ del gen NSD1 que presenta cutis laxa neonatal.

Sotos syndrome is an overgrowth condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay. We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. This association has been previously described in 3 patients with a clinical diagnosis of Sotos syndrome, without confirmatory molecular analysis. Our patient was tested for congenital disorders of glycosilation as part of the cutis laxa differential diagnosis. During the postnatal follow-up period the head circumference and height became greater than 97(th) percentile (having been close to the 50(th) in the newborn period). These facts and the progressive development of characteristic phenotypic features of Sotos syndrome during the first months of life gave us the clue for the clinical diagnosis and the molecular investigation.

Technology-assisted programs for promoting leisure or communication engagement in two persons with pervasive motor or multiple disabilities.

OBJECTIVE: To evaluate technology-assisted programs to help a man with pervasive motor disabilities and an adolescent with multiple disabilities manage the use of a radio and a special messaging system, respectively. METHOD: The technology for the man (Study I) involved a modified radio device, an electronic control unit, an amplified MP3 player with verbal questions about radio operations (changes), and an optic microswitch. This allowed the man to respond to the questions and carry out operations through minimal chin movement. The technology for the adolescent (Study II) involved a net-book computer fitted with specifically designed software, a global system for mobile communication (GSM) modem, and an optic microswitch. This allowed the adolescent to select the persons to whom he wanted to send messages and the messages to send them, and to listen to messages sent to him. RESULTS: The data showed that both programs were effective, with the two participants learning to use the radio and the messaging system, respectively. CONCLUSION: Technology-assisted programs may represent useful tools for providing persons with pervasive and multiple disabilities leisure and communication opportunities.

Successful extension of assessment and rehabilitation intervention for an adolescent with postcoma multiple disabilities through a learning setup.

Prior to the beginning of this study, the participant (an adolescent with postcoma multiple disabilities) had learned to use a forehead-skin response to access environmental stimuli. These learning data seemed to indicate a minimally conscious state (i.e., awareness of the link between response and stimuli) in spite of 1) a previous diagnosis of postcoma vegetative state; and 2) concomitant electrophysiological measurement showing no evidence of a passive P300 response and of mismatch negativity. The present study was an effort to extend the early learning investigation with two additional responses and related stimuli to broaden learning evidence and ascertain possible choice behavior. Results indicated that the participant learned the new responses and also provided evidence of choice behavior. These data were discussed in terms of the usefulness of the learning paradigm in the assessment and rehabilitation of persons with postcoma multiple disabilities and consciousness disorders.

Microswitch for vocalization responses: comparing single- versus dual-microphone arrangements for a man with multiple disabilities.

Microswitches are technical devices designed to enable persons with multiple disabilities to control environmental events, generally preferred stimuli such as music and lights, using simple/feasible responses. For example, a sound-detecting microswitch may allow a person to turn on brief periods of preferred stimulation through simple vocal responses. This study compared the accuracy of two versions of a sound-detecting microswitch, i.e., one using a throat microphone and the other both throat and airborne microphones, for a man with multiple disabilities. Analysis showed that the latter microswitch version radically reduced the false activations present with the former microswitch version. Thus, the latter version seemed to have a clear accuracy advantage over the former with important practical implications.

Three persons with multiple disabilities accessing environmental stimuli and asking for social contact through microswitch and VOCA technology.

BACKGROUND: Direct access to environmental stimuli and opportunity to ask for social contact/attention may be considered highly relevant objectives for persons with multiple disabilities. We assessed the possibility of enabling three of these persons (two children and one adolescent) to combine two microswitches (for accessing environmental stimuli) and a Voice Output Communication Aid (VOCA), which allowed them to ask for caregiver's attention. METHODS: Initially, the participants were required to use each of the two microswitches individually and then together. Thereafter, they were taught to use the VOCA. Eventually, the VOCA was available together with the microswitches, and the participants could use any of the three. RESULTS: The results, which support preliminary data on this topic, showed that all participants (1) were able to operate the two microswitches as well as the VOCA; and (2) used all three of them consistently when they were simultaneously available. CONCLUSIONS: Teaching persons with multiple disabilities to combine a VOCA with conventional microswitches may enrich their general input, emphasize their active social role and eventually enhance their social image.

Analysis of non-Saccharomyces yeast populations isolated from grape musts from Sicily (Italy).

AIMS: The aim of this study was to identify the non-Saccharomyces yeast populations present in the grape must microflora from wineries from different areas around the island of Sicily. METHODS AND RESULTS: Yeasts identification was conducted on 2575 colonies isolated from six musts, characterized using Wallerstein Laboratory (WL) nutrient agar, restriction analysis of the amplified 5.8S-internal transcribed spacer region and restriction profiles of amplified 26S rDNA. In those colonies, we identified 11 different yeast species originating from wine musts from two different geographical areas of the island of Sicily. CONCLUSIONS: We isolated non-Saccharomyces yeasts and described the microflora in grape musts from different areas of Sicily. Moreover, we discovered two new colony morphologies for yeasts on WL agar never previously described. SIGNIFICANCE AND IMPACT OF THE STUDY: This investigation is a first step in understanding the distribution of non-Saccharomyces yeasts in grape musts from Sicily. The contribution is important as a tool for monitoring the microflora in grape musts and for establishing a new non-Saccharomyces yeast collection; in the future, this collection will be used for understanding the significance of these yeasts in oenology.