Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Mean cycloplegic refractive error in emmetropic adults – The Tehran Eye Study / Error refractivo ciclopléjico medio en adultos emétropes: estudio ocular de Teherán

Purpose: In children under 20 years, refractive development targets a cycloplegic refractive error of +0.5 to +1.5D, while presbyopes over 40 years generally have non-cycloplegic errors of ≥ +1D. Some papers suggest these periods are separated by a period of myopic refractive error (i.e., ≤ –0.50D), but this remains unclear. Hence, this work investigates the mean cycloplegic refractive error in adults aged between 20 – 40 years. Methods: In 2002 a cross-sectional study with stratified cluster sampling was performed on the population of Tehran, providing cycloplegic and non-cycloplegic refractive error data for the right eyes of 3,576 participants, aged 30.6 ± 18.6 years (range: 1–86 years). After grouping these data into age groups of 5 years, the refractive error histogram of each group was fitted to a Bigaussian function. The mean of the central, emmetropized peak was used to estimate the mean refractive error without the influence of myopia. Results: The mean cycloplegic refractive error at the emmetropized peak decreased from +1.10 ± 0.11D (95 % confidence interval) to +0.50 ± 0.04D before 20 years and remains stable at that value until the age of 50 years. The non-cycloplegic refractive error also sees a stable phase at 0.00 ± 0.04D between 15 – 45 years. After 45 – 50 years both cycloplegic and non-cycloplegic refractive error become more hypermetropic over time, +1.14 ± 0.12D at 75 years. Conclusions: The cycloplegic refractive error in adults is about +0.50D between 20 – 50 years, disproving the existence of the myopic period at those ages.(AU)

The emotion of gratitude as a mediator between subjective happiness, positive and negative affect and satisfaction with life in Spanish adults / La emoción de gratitud como mediadora entre la felicidad subjetiva, el afecto positivo y negativo y la satisfacción con la vida en adultos españoles

El presente estudio investigó si la satisfacción con la vida se predice a partir de la felicidad subjetiva, afectos positivos y negativos, alteración psicológica y emociones de gratitud y si la emoción de gratitud está mediando la relación con la felicidad subjetiva, los afectos y la satisfacción con la vida. Se hicieron correlación de Pearson, pruebas de regresión lineal múltiple y modelos de mediación en una muestra de 1537 adultos españoles, 73.6% mujeres y 26.4% hombres, edad 18-88 años (M = 42.56 años; DT = 16.29). Se halló que las emociones de gratitud median la relación entre felicidad subjetiva y satisfacción con la vida y entre los afectos positivos y la satisfacción con la vida. Los afectos positivos son los que más se relacionan con la satisfacción con la vida, seguidos por la felicidad subjetiva y las emociones de gratitud. Los hombres están más satisfechos con la vida cuando sienten menos afecto negativo. Además, las emociones de gratitud median la relación entre felicidad subjetiva y satisfacción con la vida y entre los afectos positivos y la satisfacción con la vida. La diferencia principal radica en que las emociones de gratitud son más fuertes en las mujeres que en los hombres.(AU)

This study aims to examine the predictability of satisfaction with life on the basis of subjective happiness, positive and negative affect, psy-chological disturbance and emotion of gratitude. It also seeks to assess whether the emotion of gratitude is a mediating variable withsubjective happiness, affect, and satisfaction with life. Statistical analyses of Pearson'scorrelation, multiple linear regression tests, and mediation models were conducted on asample of 1537 Spanish adults, 73.6% were females, 26.4% males, age between 18-88 yearsold (M = 42.56; SD = 16.29). The emo-tions of gratitude were found to mediate therelationship between subjec-tive happiness and satisfaction with life and between positiveaffect and satisfaction with life. Of the variables studied, positive affect is the most related tosatisfaction with life, followed by subjective happiness and emo-tions of gratitude. Maleparticipants are more satisfied with life when they feel the less negative affect. Regardingmediation models, emotions of grat-itude mediate the relationship between subjectivehappiness and satisfac-tion with life and between positive affect and satisfaction with life. Themaindifferenceis thatemotions of gratitudearestronger infemalesthan in males.(AU)

Manejo cirúrgico de ferimento auto-infligido por arma de fogo em região maxilofacial / Surgical management of self-inflicted injury by gun in the maxillofacial region

INTRODUÇÃO: O manejo dos pacientes vítimas de PAF possui vertentes divergentes a respeito do tratamento cirúrgico, que pode ser realizado de forma imedata ou tardia. Em lesões auto-infligidas, a distância entre a arma e a região acometida é menor, causando consequências estéticas e funcionais mais devastadoras. Aliado ao fato desse tipo de trauma criar uma ferida suja devido à comunicação com a cavidade oral e seios paranasais, o manejo das lesões representam um desafio mesmo à cirurgiões experientes. OBJETIVO: Estre trabalho relata o manejo cirúrgico de uma ferida auto-infligida por arma de fogo que resultou em avulsão dos tecidos moles na região maxilofacial. DESCRIÇÃO DO CASO: Paciente do sexo masculino, 35 anos, vítima de projétil de arma de fogo auto-infligido em região maxilofacial, cursando com extenso ferimento em região de língua e mento. Clinicamente, o paciente não apresentava sinais de fratura em ossos da face. Ambos os ferimentos apresentavam secreção purulenta e o paciente manifestava disfonia devido a grande destruição tecidual. CONSIDERAÇÕES FINAIS: O tratamento de ferimentos por arma de fogo não só é um grande desafio para o cirurgião, como para toda a equipe multidisciplinar requerida para tais casos, visto que não há protocolos bem definidos para o tratamento dessas lesões(AU)

INTRODUCTION: The management of patients who are victims of FAP has divergent aspects regarding surgical treatment, which can be performed immediately or late. In self-inflicted injuries, the distance between the weapon and the affected region is smaller, causing more devastating aesthetic and functional consequences. Allied to the fact that this type of trauma creates a dirty wound due to the communication with the oral cavity and paranasal sinuses, the management of injuries represents a challenge even for experienced surgeons. OBJECTIVE: This paper reports the surgical management of a self-inflicted gunshot wound that resulted in soft tissue avulsion in the maxillofacial region. CASE DESCRIPTION: Male patient, 35 years old, victim of a self-inflicted firearm projectile in the maxillofacial region, coursing with extensive injury in the region of the tongue and chin. Clinically, the patient did not show signs of facial bone fractures. Both wounds had purulent secretion and the patient had dysphonia due to extensive tissue destruction. FINAL CONSIDERATIONS: The treatment of gunshot wounds is not only a great challenge for the surgeon, but also for the entire multidisciplinary team required for such cases, since there are no well-defined protocols for the treatment of these injuries(AU)

Tratamento integrado para correção do sorriso gengival: relato de caso / Integrated treatment for correction of gingival smile: case report

O sorriso gengival possui inúmeras causas, podendo acontecer por motivos esqueléticos, musculares ou por alteração no desenvolvimento dos tecidos de suporte. No entanto, na atualidade, a estética vermelha e a branca têm se apresentado completamente passíveis de transformações e com uma gama de procedimentos cirúrgicos ou não cirúrgicos para sanar as queixas dos pacientes. O objetivo geral deste trabalho é mostrar o poder que a odontologia tem frente às questões estéticas, como, por exemplo, a vergonha de sorrir por não se sentir confortável com os dentes curtos e com uma grande faixa de gengiva sendo exposta. O método utilizado foi um relato de caso. Que descreve todos os passos clínicos do tratamento de um paciente de 40 anos, que estava insatisfeita com o seu sorriso por apresentar erupção passiva alterada juntamente com hiperatividade do lábio superior. O plano de tratamento escolhido foi de realizar a cirurgia de aumento de coroa clínica estético, seguido de clareamento dentário e posteriormente um reposicionamento labial, com ajuda da toxina botulínica. Finalizando, para ajudar na cicatrização, o uso de laserterapia. O resultado de todo o processo cirúrgico envolvido neste trabalho, é satisfação do paciente, materializando o sonho deste, devolvendo segurança e espontaneidade ao sorrir. Pôde-se observar que através da combinação de técnicas cirúrgicas periodontais para tratar o sorriso gengival, obtém-se êxito tanto no sentido científico quanto no biológico, alcançando um sorriso esteticamente mais atrativo(AU)

Gummy smile has numerous causes, which can occur for skeletal or muscular reasons or due to changes in the development of supporting tissues. However, nowadays, the red and white aesthetics have been completely capable of transformation and with a range of surgical or non-surgical procedures to resolve patients' complaints. The general objective of this work is to show the power that dentistry has in the face of aesthetic issues, such as, for example, the shame of smiling due to not feeling comfortable with short teeth and a large strip of gum being exposed. The method used was a case report. Which describes all the clinical steps of the treatment of a 40-year-old patient, who was dissatisfied with her smile due to an altered passive eruption together with hyperactivity of the upper lip. The chosen treatment plan was to perform aesthetic clinical crown augmentation surgery, followed by tooth whitening and later lip repositioning, with the help of botulinum toxin. Finally, to help with healing, the use of laser therapy. The result of the entire surgical process involved in this work is patient satisfaction, materializing the patient's dream, restoring security and spontaneity when smiling. It was observed that through the combination of periodontal surgical techniques to treat gummy smile, success is achieved both in the scientific and biological sense, achieving a more aesthetically attractive smile(AU)

Restauração em resina composta semidireta em dente posterior: relato de caso / Semi-direct composite restoration in posterior toth: a case report

A escolha da técnica restauradora desempenha papel fundamental na eficácia e duração de um tratamento reabilitador. O objetivo deste relato de caso foi descrever a utilização da técnica semidireta para a confecção de uma restauração em resina composta em um primeiro molar inferior. A paciente apresentava uma restauração insatisfatória no dente 36, que necessitava ser substituída devido à infiltração por cárie. Optou-se pela técnica semidireta devido à amplitude da cavidade, que envolvia estruturas de suporte, e pela combinação das vantagens das abordagens direta e indireta. O procedimento envolveu a remoção de tecido cariado, a aplicação de hidróxido de cálcio pasta, seguida da aplicação de uma fina camada de ionômero de vidro e, posteriormente, resina fluída para realizar o selamento dentinário. O preparo foi realizado seguindo os princípios necessários. O elemento em questão foi moldado com silicone de adição e o arco antagonista, com alginato. Ambos modelos foram vertidos com silicone para modelos semirrígidos e montados em oclusor de peças de brinquedo. A restauração semidireta foi confeccionada em resina composta Filtek Z350 XT, respeitando a anatomia do dente 36. Pigmentos foram utilizados para aprimorar detalhes estéticos. Após acabamento e polimento, a peça foi condicionada e cimentada com cimento dual Relyx Ultimate. Pode-se concluir que a abordagem restauradora por meio da técnica semidireta construída em modelo semirrígido é uma opção terapêutica conservadora e vantajosa para dentes com extensa destruição coronária. Essa técnica possibilita a restauração de forma eficaz, garantindo tanto a estética quanto a função adequada do dente afetado(AU)

The choice of restorative technique plays a fundamental role in the effectiveness and duration of rehabilitation treatment. The objective of this case report was to describe the use of the semi-direct technique to create a composite resin restoration in a lower first molar. The patient had an unsatisfactory restoration on tooth 36, which needed to be replaced due to cavity infiltration. The semi-direct technique was chosen due to the amplitude of the cavity, which involved support structures, and the combination of advantages of the direct and indirect approaches. The procedure involved the removal of carious tissue, and the application of calcium hydroxide paste, followed by the application of a thin layer of glass ionomer and, subsequently, fluid resin to seal the dentin. The preparation was carried out following the necessary principles. The element in question was molded with addition silicone and the antagonist arch was molded with alginate. Both models were poured with silicone for semi-rigid models and mounted on toy parts occluders. The semi-direct restoration was made in Filtek Z350 XT composite resin, respecting the anatomy of tooth 36. Pigments were used to improve aesthetic details. After finishing and polishing, the piece was conditioned and cemented with Relyx Ultimate dual cement. It can be concluded that the restorative approach using the semi-direct technique built on a semi-rigid model is a conservative and advantageous therapeutic option for teeth with extensive coronal destruction. This technique allows for effective restoration, ensuring both the aesthetics and adequate function of the affected tooth(AU)

Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability

OBJECTIVES: This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability. METHODS: Clinical and laboratory data were obtained from 144 adult FH patients treated with statins. A panel of 32 PD genes was analyzed by exon-targeted gene sequencing. Deleterious variants were identified using prediction algorithms and their structural effects were analyzed by molecular modeling studies. RESULTS: A total of 102 variants were predicted as deleterious (83 missense, 8 stop-gain, 4 frameshift, 1 indel, 6 splicing). The variants ABCA1 rs769705621 (indel), LPA rs41267807 (p.Tyr2023Cys) and KIF6 rs20455 (p.Trp719Arg) were associated with reduced low-density lipoprotein cholesterol (LDLc) response to statins, and the LPL rs1801177 (p.Asp36Asn) with increased LDLc response (P < 0.05). LPA rs3124784 (p.Arg2016Cys) was predicted to increase statin response (P = 0.022), and ABCA1 rs769705621 to increase the risk of statin-related adverse events (SRAE) (P = 0.027). LPA p.Arg2016Cys and LPL p.Asn36Asp maintained interactions with solvent, LPA p.Tyr2023Cys reduced intramolecular interaction with Gln1987, and KIF6 p.Trp719Arg did not affect intramolecular interactions. DDMut analysis showed that LPA p.Arg2016Cys and p.Tyr2023Cys and LPL p.Asp36Asn caused energetically favorable changes, and KIF6 p.Trp719Arg resulted in unfavorable energetic changes, affecting protein stability. CONCLUSION: Deleterious variants in ABCA1, LPA, LPL and KIF6 are associated with variability in LDLc response to statins, and ABCA1 rs769705621 is associated with SRAE risk in FH patients. Molecular modeling studies suggest that LPA p.Tyr2023Cys and KIF6 p.Trp719Arg disturb protein conformational structure and stability.

Influencia da Qualidade do Sono na Qualidade de Vida no Trabalho de Policais Militares / Influencia de la Calidad del Sueño en la Calidad de Vida en el Trabajo de la Policía Militar / Influence of Sleep Quality on the Quality of Life and Work of Military Police Officers

Resumo Introdução: A profissão policial é considerada de alto risco e exige um vigor físico e mental do trabalhador diante do serviço realizado. De tal modo que uma boa qualidade do sono é importante, pois impacta diretamente em diversos aspectos na saúde desses trabalhadores. Ademais, a falta de uma boa qualidade do sono devido ao trabalho pode influenciar negativamente a qualidade de vida no trabalho. Objetivo: Analisar a influência da qualidade do sono na qualidade de vida no trabalho de policiais militares. Metodologia: Estudo quantitativo, correlacionalde corte transversal, realizado no primeiro semestre de 2019, com policiais de três municípios da Bahia, Brasil. Foram utilizados três instrumentos: sociodemográfico e características laborais; qualidade de vida de vida no trabalho; e qualidade do sono. Foi aplicado o teste do qui quadrado para as variáveis sociodemograficas e ocupacionais. Posteriormente, foi aplicado o teste de correlação de Spearman entre a qualidade do sono com as dimensões da qualidade de vida no trabalho. Resultados: Evidenciou-se entre os 298 policiais que a mediana da idade foi de 40 anos e tempo de serviço ≤ 7 anos, observou-se também que os policiais com pior qualidade do sono apresentaram qualidade de vida no trabalho insatisfatória em todas as dimensões (biológica/fisiológica; psicológica/comportamental; sociológica/relacional; econômica/política, ambiental/organizacional). Conclusão: Os policiais sofrem com a qualidade do sono e consequentemente influencia negativamente a qualidade de vida no trabalho. Assim, há uma necessidade de desenvolver ações no ambiente de trabalho que possam diminuir os afastamentos decorrentes dos problemas de saúde ocasionados pela qualidade do sono.

Resumen Introdución: La formación policial se considera de alto riesgo y requiere vigor físico y mental por parte de la persona trabajadora antes de realizar el servicio. Para esto, la buena calidad de sueño es importante, ya que impacta directamente en la salud de la población trabajadora en varios aspectos. Además, la falta de una buena calidad de sueño debido al trabajo puede influir negativamente en la calidad de vida fuera del trabajo. Objetivo: Analizar la influencia de la calidad del sueño en la calidad de vida en el trabajo de policías militares. Metodología: Estudio cuantitativo, correlacional transversal, realizado en el primer semestre de 2019, con policías de tres municipios de Bahía, Brasil. Se utilizaron tres instrumentos: características sociodemográficas y laborales, calidad de vida en el trabajo y calidad de sueño. Se aplicó la prueba chi cuadrado para las variables sociodemográficas y ocupacionales. Posteriormente, se aplicó la prueba de correlación de Spearman entre la calidad del sueño y las dimensiones de calidad de vida en el trabajo. Resultados: La muestra fue de 298 policías, la mediana de edad fue de 40 años y la antigüedad en el servicio fue ≤ 7 años. También, se observó quienes tuvieron peor calidad de sueño, también tuvieron una calidad de vida en el trabajo insatisfactoria en todos sus dimensiones (biológica/fisiológica; psicológica/conductual; sociológica/relacional; económica/política, ambiental/organizacional). Conclusión: Quienes son agentes de policía sufren de mala calidad de sueño y, en consecuencia, se influye negativamente su calidad de vida en el trabajo. Por lo tanto, existe la necesidad de desarrollar acciones en el lugar de trabajo que pueda reducir los riesgos de problemas de salud causados por la calidad del sueño.

Abstract Background: Police training is considered high risk and demands physical and mental vigor from the worker before preforming the service. Therefore, sleep quality is important as it directly impacts the health of these workers in several aspects. Furthermore, the lack of sleep quality due to work can negatively influence the quality of life outside of work. Aim: To analyze the influence of sleep quality on the quality of life and work of military police officers. Methods: A quantitative, cross-sectional correlational study, conducted in the first half of 2019 with police officers from three municipalities in Bahia, Brazil. Three instruments were used: sociodemographic and work characteristics; quality of life at work; and sleep quality. The chi-square test was applied for sociodemographic and occupational variations. Subsequently, the Spearman correlation test was applied between sleep quality and the quality of life and work dimensions. Results: Among the 298 police officers the median age was 40 years and the length of service was ≤ 7 years. It was also observed that police officers with poorer sleep quality had an unsatisfactory quality of life at work in all its dimensions (biological/physiological; psychological/behavioral; sociological/relational; economic/political, environmental/organizational). Conclusion: Police officers suffer from poor sleep quality and this negatively influence their quality of life and work. Therefore, there is a need to develop actions in the workplace that may reduce the risks of health problems caused by poor sleep quality.

Predictors of transition to schizophrenia and other long-lasting non-affective psychoses in first-episode patients with acute and transient psychotic disorders: A validation study

Background and objectives Almost half of the individuals with a first-episode of psychosis who initially meet criteria for acute and transient psychotic disorder (ATPD) will have had a diagnostic revision during their follow-up, mostly toward schizophrenia. This study aimed to determine the proportion of diagnostic transitions to schizophrenia and other long-lasting non-affective psychoses in patients with first-episode ATPD, and to examine the validity of the existing predictors for diagnostic shift in this population. Methods We designed a prospective two-year follow-up study for subjects with first-episode ATPD. A multivariate logistic regression analysis was performed to identify independent variables associated with diagnostic transition to persistent non-affective psychoses. This prediction model was built by selecting variables on the basis of clinical knowledge. Results Sixty-eight patients with a first-episode ATPD completed the study and a diagnostic revision was necessary in 30 subjects at the end of follow-up, of whom 46.7% transited to long-lasting non-affective psychotic disorders. Poor premorbid adjustment and the presence of schizophreniform symptoms at onset of psychosis were the only variables independently significantly associated with diagnostic transition to persistent non-affective psychoses. Conclusion Our findings would enable early identification of those inidividuals with ATPD at most risk for developing long-lasting non-affective psychotic disorders, and who therefore should be targeted for intensive preventive interventions. (AU)

Effects of antipsychotics on amino acid levels in patients with first-episode schizophrenia: A prospective study

Background and objectives Alterations in the molecular mechanisms of specific amino acids (AAs) may be implicated in the pathophysiology of schizophrenia (SZ). However, little is known about antipsychotic drugs influence on levels of AAs. This study aimed to further explore antipsychotics' effects on AAs and serum lipid levels in first-episode SZ. Methods Eighty subjects with the International Classification of Diseases, Tenth Edition (ICD-10) criteria-defined SZ were enrolled. The levels of 31 AAs were measured in plasma samples using ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). Results Ten AAs (i.e., citrulline, sarcosine, tyrosine, leucine, proline, hydroxyproline, kynurenine, tryptophan, valine and isoleucine) were observed to be higher and three AAs (i.e., GABA, aminobutyric acid and asparaginic acid) were lower in 80 patients with first-episode SZ after various antipsychotics treatment. In addition, there were 1 out of 31 AAs altered after olanzapine treatment and there were only 2 out of 31 AAs altered after risperidone treatment. Furthermore, serum triglyceride (TG) was markedly upregulated after olanzapine treatment, while Apolipoprotein A1 (ApoA1) was generally upregulated after risperidone treatment in patients with first-episode SZ. Conclusions Taken together, antipsychotic treatment can affect the plasma levels of AAs in patients with first-episode SZ, and olanzapine and risperidone have differential effects on the levels of AAs. (AU)

Asociación de trasplante de progenitores hematopoyéticos y síndrome de Parsonage-Turner: ¿coincidencia o relación causa-efecto? / Association between hematopoietic stem cell transplantation and Parsonage Turner syndrome: coincidence or cause-effect relationship?

El síndrome de Parsonage-Turner o plexopatía braquial idiopática es una inflamación total o parcial del plexo braquial cuya presentación típica es una omalgia intensa y súbita, seguida de debilidad braquial y amiotrofia precoz. La etiología es desconocida, aunque se propone un mecanismo inmunomediado.El trasplante de progenitores hematopoyéticos es un tratamiento bien establecido de las neoplasias hematológicas y tiene un papel creciente en el tratamiento de enfermedades autoinmunes. Los efectos adversos neurológicos son probablemente infradiagnosticados.La asociación del síndrome de Parsonage-Turner y el trasplante de progenitores hematopoyéticos es muy poco conocida. Describimos dos casos clínicos de plexopatía braquial idiopática tras trasplante de células stem (progenitores) hematopoyéticas (TPH).La reconstitución del sistema inmune tras un trasplante de progenitores hematopoyéticos puede ser un desencadenante de plexopatía braquial, aunque se necesitan más estudios para entender la fisiopatología de esta entidad y establecer su relación causal con el trasplante. (AU)

Parsonage-Turner syndrome or idiopathic brachial neuritis is a total or partial inflammation of the brachial plexus, with a typical presentation as a sudden and very intense pain in the shoulder, followed by weakness and early amyotrophy. The etiology is still unknown, although an immune mediated mechanism is thought to be involved.Hematopoietic stem cell transplantation is a well-established treatment for hematological malignancies, but with a growing implication in the treatment of autoimmune diseases. The neurological side effects are probably underdiagnosed.The association of the Parsonage-Turner syndrome and the hematopoietic stem cell transplantation is scarce. We describe two clinical cases of idiopathic brachial plexopathy after hematopoietic stem cell transplantation.The reconstruction of the immune system after a transplant may be the trigger of a brachial plexopathy, but more studies are necessary for the etiology of this disease to be understood and to establish a cause-effect relation with the transplant. (AU)

La importancia de la genética en el estudio de la hipertrigliceridemia / The importance of genetics in the study of hypertriglyceridemia

La hipertrigliceridemia engloba un conjunto de trastornos lipídicos comunes en la práctica clínica, generalmente definidos como una concentración superior a 150mg/dL en ayunas. Existen diversas clasificaciones de la gravedad de la hipertrigliceridemia en función de sus valores séricos, considerándose por norma general moderada cuando los niveles son inferiores a 500mg/dL y severa cuando son mayores de 1.000mg/dL. Su importancia radica en su asociación con otras alteraciones del perfil lipídico, contribuyendo al aumento del riesgo cardiovascular y de pancreatitis aguda, fundamentalmente con concentraciones superiores a 500mg/dL.(AU)

Hypertriglyceridemia encompasses a set of lipid disorders common in clinical practice, generally defined as a fasting concentration above 150mg/dL. There are various classifications of the severity of hypertriglyceridaemia based on serum values, with levels generally considered moderate when below 500mg/dL and severe when above 1000mg/dL. Its importance lies in its association with other alterations in the lipid profile, contributing to increased cardiovascular risk and increased risk of acute pancreatitis, mainly with concentrations above 500mg/dL.(AU)

Primary hepatic pleomorphic liposarcoma: Case report and literature review / Liposarcoma pleomorfo hepático primario: presentación de un caso y revisión bibliográfica

Primary hepatic liposarcoma is an extremely rare malignant tumour derived from adipocytes and is part of the group of mesenchymal tumours. We present the case of a 43-year-old Hispanic male patient with a pleomorphic hepatic liposarcoma and absence of MDM2 gene amplification. Two years and six months after surgery, the patient is asymptomatic. The present case is the first report of this entity with positive immunohistochemical testing for p16, p53, S100, vimentin and absence of MDM2 gene amplification. (AU)

El liposarcoma hepático primario es un tumor maligno extremadamente raro, derivado de adipocitos, y forma parte del grupo de tumores mesenquimales. Presentamos el caso de un paciente masculino de 43 años con diagnóstico de liposarcoma hepático pleomorfo con ausencia de amplificación del gen MDM2. Dos años y 6 meses después de la cirugía el paciente se encuentra asintomático. El presente caso es el primer informe de esta entidad con estudio inmunohistoquímico positivo para p16, p53, S100, vimentina y ausencia de amplificación del gen MDM2. (AU)

Extraskeletal myxoid chondrosarcoma metastasis to a Meckel's diverticulum adenocarcinoma / Metástasis de condrosarcoma mixoide extraesquelético a un adenocarcinoma de divertículo de Meckel

Extraskeletal myxoid chondrosarcoma is a rare soft tissue tumour with a high local and distant metastasis rate and limited response to chemotherapy. Meckel's diverticulum is the most frequent congenital anomaly, and it is associated with a considerable risk of malignant transformation. In this case report, we describe a 50-year-old female patient with a history of extraskeletal myxoid chondrosarcoma of the lower limb and metastasis to the forearm who went to the emergency department with abdominal pain. The investigations revealed a caecal volvulus. A lesion in the middle third of the ileum was incidentally discovered and removed during surgery. Pathology examination revealed a Meckel's diverticulum adenocarcinoma, with metastasis of extraskeletal myxoid chondrosarcoma. Resection was complete; however, the patient had diffuse metastatic pulmonary disease and died eight months later due to disease progression. This mechanism of tumour-to-tumour metastasis is described in other locations, but, regarding the Meckel's diverticulum, this is a unique situation, previously unreported in the literature. (AU)

El condrosarcoma mixoide extraesquelético es un tumor de tejidos blandos poco frecuente, con una elevada tasa de recurrencia y metástasis a distancia y una respuesta limitada a la quimioterapia. El divertículo de Meckel es la anomalía congénita más frecuente y se asocia a un riesgo considerable de transformación maligna. En este caso clínico describimos a una paciente de 50 años con antecedentes de condrosarcoma mixoide extraesquelético de miembro inferior y metástasis en el antebrazo que acudió al servicio de urgencias por dolor abdominal. La exploración reveló un vólvulo cecal. Se descubrió incidentalmente una lesión en el tercio medio del íleon, que se extirpó durante la intervención quirúrgica. El examen patológico reveló un adenocarcinoma de divertículo de Meckel, afectado por metástasis de condrosarcoma mixoide extraesquelético. La resección fue completa; sin embargo, la paciente presentaba enfermedad pulmonar metastásica difusa y falleció ocho meses después debido a la progresión de la enfermedad. Este mecanismo de metástasis entre tumores está descrito en otras localizaciones, pero en lo que respecta al divertículo de Meckel, se trata de una situación única en la literatura. (AU)

Feature variability determines specificity and transfer in multiorientation feature detection learning.

Historically, in many perceptual learning experiments, only a single stimulus is practiced, and learning is often specific to the trained feature. Our prior work has demonstrated that multi-stimulus learning (e.g., training-plus-exposure procedure) has the potential to achieve generalization. Here, we investigated two important characteristics of multi-stimulus learning, namely, roving and feature variability, and their impacts on multi-stimulus learning and generalization. We adopted a feature detection task in which an oddly oriented target bar differed by 16° from the background bars. The stimulus onset asynchrony threshold between the target and the mask was measured with a staircase procedure. Observers were trained with four target orientation search stimuli, either with a 5° deviation (30°-35°-40°-45°) or with a 45° deviation (30°-75°-120°-165°), and the four reference stimuli were presented in a roving manner. The transfer of learning to the swapped target-background orientations was evaluated after training. We found that multi-stimulus training with a 5° deviation resulted in significant learning improvement, but learning failed to transfer to the swapped target-background orientations. In contrast, training with a 45° deviation slowed learning but produced a significant generalization to swapped orientations. Furthermore, a modified training-plus-exposure procedure, in which observers were trained with four orientation search stimuli with a 5° deviation and simultaneously passively exposed to orientations with high feature variability (45° deviation), led to significant orientation learning generalization. Learning transfer also occurred when the four orientation search stimuli with a 5° deviation were presented in separate blocks. These results help us to specify the condition under which multistimuli learning produces generalization, which holds potential for real-world applications of perceptual learning, such as vision rehabilitation and expert training.

Long-term effects of alcohol consumption on anxiety in adults: A systematic review.

OBJECTIVE: Despite the high prevalence and comorbidity of alcohol consumption and anxiety, it is unclear whether alcohol consumption influences long-term anxiety. This study aimed to systematically review the literature on the long-term longitudinal effects of alcohol consumption on anxiety in adults. METHODS: EMBASE, PsychInfo, Medline, and Web of Science databases were systematically searched from inception to April 12th, 2024. Articles analysing the relationship between alcohol consumption and anxiety symptoms or anxiety disorder diagnosis at least three-months later in adults were eligible. Articles were screened and extracted by two independent reviewers with study quality assessed using the Mixed Methods Appraisal Tool. RESULTS: From 884 records, eight studies of mixed quality met inclusion criteria. One study using a sample representative of the USA population found low volume consumption was associated with lower long-term anxiety. All other studies used a convenience sample or a specific medical population sample. The significance and direction of the relationship between alcohol consumption and long-term anxiety in these studies varied, likely due to differences in alcohol consumption thresholds used and populations studied. CONCLUSIONS: A paucity of research on the longitudinal effects of alcohol consumption on anxiety was found, highlighting a significant gap in the research literature. Furthermore, existing research, primarily focussed on clinical subpopulations, has yielded mixed results. Further research is needed to explore the longitudinal dose dependent impact of alcohol consumption on anxiety using samples representative of national populations.

The effects of alcohol use on smoking cessation treatment with nicotine replacement therapy: An observational study.

INTRODUCTION: Concurrent users of tobacco and alcohol are at greater risk of harm than use of either substance alone. It remains unclear how concurrent tobacco and alcohol use affects smoking cessation across levels of alcohol use and related problems. This study assessed the relationship between smoking cessation and levels of alcohol use problems. METHODS: 59,018 participants received nicotine replacement therapy through a smoking cessation program. Alcohol use and related symptoms were assessed using the Alcohol Use Disorders Identification Test (AUDIT-10) and the AUDIT-Concise (AUDIT-C). The primary outcome was 7-day point prevalence cigarette abstinence (PPA) at 6-month follow-up. We evaluated the association between alcohol use (and related problems) and smoking cessation using descriptive methods and mixed-effects logistic regression. RESULTS: 7-day PPA at 6-months was lower in groups meeting hazardous alcohol consumption criteria, with the lowest probability of smoking abstinence observed in the highest risk group. The probability of successful tobacco cessation fell with increasing levels of alcohol use and related problems. Adjusted predicted probabilities were 30.3 (95 % CI = 29.4, 31.1) for non-users, 30.2 (95 % CI = 29.4, 31.0) for low-risk users, 29.0 (95 % CI = 28.1, 29.9) for those scoring below 8 on the AUDIT-10, 27.3 (95 % CI = 26.0, 28.6) for those scoring 8-14, and 24.4 (95 % CI = 22.3, 26.5) for those scoring 15 or higher. CONCLUSION: Heavy, hazardous alcohol use is associated with lower odds of successfully quitting smoking compared to low or non-use of alcohol. Targeting alcohol treatment to this group may improve tobacco cessation outcomes.

The impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?

OBJECTIVE: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. METHODS: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale). RESULTS: Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function. CONCLUSION: The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.

Understanding the experiences of PHC nurses in caring for older patients in the post-fifth wave of the COVID-19 pandemic: an exploratory qualitative study.

Objective: To ensure the best possible care, the perspective of PHC nurse work experience during the COVID-19 pandemic should be considered when developing nursing care protocols for older patients who receive PHC services. Method: This exploratory qualitative study was conducted with 18 nurses working continuously in PHC between the first and fifth waves of the pandemic. Semi-structured thematic interviews were undertaken. Qualitative thematic content analysis was conducted to identify and group the themes that emerged from the discourse. Interviews were transcribed and analyzed using thematic analysis. Results: The first topic describes the nurses' experiences of physical and mental suffering in caring for older patients in response to the pandemic. The second topic covers the experience of reorganizing PHC work. The third topic focuses on the difficulties of caring for older patients. The final topic includes issues of support needs for nurses in PHC work. Conclusion: The experience and understanding of PHC nurses in caring for older people during the COVID pandemic should lead to significant changes in the system of nursing care for geriatric patients and in the cooperative role within geriatric care specialist teams. Drawing on the experience of COVID-19, it is necessary to work on the weak points of PHC exposed by the pandemic in order to improve the quality of care and life for geriatric patients.