Abstract Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disor der from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a promi nent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are be ing identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary stud ies and in the design of the intervention plan.

Resumen El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pro nóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incre mentan el riesgo de TDAH y difícilmente justifican su ele vada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su pa pel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.

Abstract Phycocyanin (PC) is commercially exploited in various commercial sectors, as novel applications are developed rapidly. However, the state-of-the-art is difficult to define, given the extremely heterogeneous information available. Hence, this study aimed to perform a technological and scientific review on PC production from Spirulina (Arthrospira spp.), based on a bibliometric analysis of patents and research articles deposited from 2015 to 2023. To close the knowledge gap evidenced by the prospection, we optimized the instrumental conditions of microalgae cultivation, i.e., orbital agitation, culture volume, and cultivation time, for the production of PC. We assessed the color parameters and stability of the PC used as an ice cream colorant. The prospection highlighted rather diverse points of view between academia and the industry regarding PC production methods. The optimization showed a substantial impact of cultivation time on PC yield and purity. A purification step via precipitation was note necessary to obtain food-grade PC (purity > 0.7). Optimal experimental conditions were 180 rpm, 250 mL, and 14 days of cultivation. The ice cream colored using PC from the optimized cultivation conditions showed concentration-dependent color variations, without significant color losses for 90 days. (PC sectors rapidly However stateoftheart state art define available Hence Arthrospira spp., spp spp. , spp.) 201 2023 ie i e i.e. agitation volume colorant methods purity foodgrade food grade 0.7. 07 0.7 . 0 7 0.7) 18 rpm 25 mL 1 concentrationdependent concentration dependent variations 9 20 202 i.e 0. 2

Resumen Más allá de la frecuente coexistencia del trastorno por déficit de atención con hiperactividad (TDAH) y el trastorno específico del aprendizaje de la lectura, la presente revisión pretende examinar la evidencia empírica disponible sobre cómo el TDAH impacta negativamente sobre el aprendizaje de la lectura. Los datos existentes apuntan a que la presencia del trastorno (especialmente los síntomas de falta de atención), puede afectar a i) la correcta adquisición de lectura, ya sea de manera directa o a través de su influencia sobre los precursores de la lectura; ii) las propias habilidades de decodificación (precisión y fluidez lectora), tanto de manera directa como indirecta a través de su influencia sobre procesos cognitivos como la distracción o las funciones ejecutivas; y ii) la comprensión lectora, probablemente de manera indirecta por las dificultades eje cutivas y en la memoria de trabajo verbal características del TDAH. Estas conclusiones presentan importantes implicaciones para caracterizar e intervenir mejor sobre las dificultades lectoras en el TDAH, ya sean clínicas o subclínicas.

Abstract Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading dis order (dyslexia), the present review aims to examine the available empirical evidence on how ADHD negatively impacts on learning to read. Existing data suggest that the presence of the disorder (especially inattention symp toms), may affect i) the correct acquisition of reading, either directly or through its influence on the precursors to reading; ii) decoding skills themselves (reading accuracy and fluency), both directly and indirectly through its influence on cognitive processes such as distractibility or executive functions; and iii) reading comprehension, probably indirectly through the executive and verbal memory difficulties characteristic of ADHD. These findings have important implications for better characterizing and intervening on reading difficulties in ADHD, whether clinical or subclinical.

Abstract This study aims to contribute to a better understanding of at tention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder (attention and inhibitory control), symptomatology (inattention and hyperactivity/impulsivity) and functional impairment in 85 children and adolescents with ADHD without other comorbid disorders. We found, independent of general intellectual functioning and age, that i) greater atten tional and inhibitory deficits predicted greater severity of ADHD symptoms, ii) greater attentional and inhibitory deficits predicted greater functional impairment, but not in a direct way but through symptoms, and iii) greater symptomatic severity predicted greater functional impairment. Beginning to explore and understand the com plexity of ADHD is key to advance our knowledge of the disorder and for correct clinical decision making.

Resumen Este estudio pretende contribuir a una mejor comprensión del trastorno por déficit de atención con hiperactividad (TDAH) examinado de manera exhaustiva la relación entre dos de los principales déficits cognitivos del trastorno (la atención y el control inhibitorio), la sintomatología (falta de atención e hipe ractividad/impulsividad) y la repercusión funcional en 85 niños/as y adolescentes con TDAH sin otros trastornos comórbidos. Encontramos, con independencia del funcionamiento intelectual general y de la edad, que i) un mayor déficit atencional e inhibitorio, predijo una mayor gravedad de los síntomas del TDAH, ii) un mayor déficit atencional e inhibitorio predijo un mayor deterioro funcional, pero no de una manera directa sino a través de los síntomas, y iii) una mayor severidad sintomática predijo una mayor repercusión funcional. Comenzar a explorar y comprender la complejidad del TDAH es clave para avanzar en nuestro conocimiento del trastorno y para la correcta toma de decisiones clínicas.

ABSTRACT Acute gastric volvulus (AGV) is an uncommon condition with high mortality (up to 50%) and its diagnosis is based on high level of suspicion. Conservative management can be attempted in stable patients, but the surgical approach is indicated in unstable cases. We report the case of a patient with AGV and hemodynamic instability who underwent laparotomy with reduction of the volvulus but who died in the immediate postoperative period due to refractory shock.

RESUMEN El vólvulo gástrico agudo (VGA) es una entidad infrecuente, con elevada mortalidad de hasta 50%, y su diagnóstico se basa en un alto nivel de sospecha clínica. En el paciente estable se puede plantear manejo no operatorio, pero en el inestable se impone el tratamiento quirúrgico. Presentamos el caso de un paciente con VGA e inestabilidad hemodinámica, en el cual se realizó laparotomía y devolvulación gástrica, pero falleció en el posoperatorio inmediato por shock refractario.

BACKGROUND: Competent leadership and management are imperative for delivering quality laboratory services; however, few laboratory managers receive job-specific training in organisational management and leadershipOBJECTIVE: To develop and evaluate participants' competencies in organisational leadership and management as measured through learner and laboratory quality improvement assessmentsMETHODS: This professional development programme employed a mentored, blended learning approach, utilising in-person didactic and online training, with the practical application of a capstone project in the laboratories. Programme impact was evaluated through a series of pre- and post-laboartory assessments using the Stepwise Laboratory Improvement Process Towards Accreditation checklist, as well as learner-competency assessments through online quizzes and discussionsRESULTS: From 2016 to 2018, 31 managers and quality officers from 16 individual laboratories graduated from the programme having completed capstone projects addressing areas in the entire laboratory testing process. Laboratories increased their compliance with the International Organization for Standardization 15189 standard and all but two laboratories significantly increased their accreditation scores. Two laboratories gained three stars, two laboratories gained two stars, and five laboratories gained one star. Five laboratories subsequently achieved International Organization for Standardization 15189 accreditation in 2019CONCLUSION: This programme taught leadership theory to laboratory managers and allowed them to implement leadership and management practices in the laboratory setting. Programmes such as this complement existing laboratory quality management training programmes such as Strengthening Laboratory Management Toward Accreditation

ABSTRACT The Morgagni hernia corresponds to a rare congenital defect of the diaphragm. Its diagnosis is established as an incidental finding or in the presence of non-specific respiratory and / or digestive symptoms, as well as its complications. The treatment is surgical given the possibility of complications. We present the case of a patient with a symptomatic Morgagni hernia, in which we performed a laparoscopic hernioplasty.

Resumen La hernia de Morgagni corresponde a un defecto congénito diafragmático poco frecuente. Su diagnóstico se establece como un hallazgo incidental o ante la presencia de síntomas respiratorios y/o digestivos inespecíficos, así como sus complicaciones. El tratamiento es quirúrgico dado la posibilidad de complicaciones. Presentamos el caso de un paciente portador de una hernia de Morgagni sintomática, en el cual realizamos una hernioplastia laparoscópica.

Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.

Los avances en la genética han podido apoyar la sospecha que aportaba la experiencia clínica sobre el gran componente hereditario de la mayor parte de estos trastornos del neurodesarrollo (TND). Los estudios iniciales de heredabilidad, ligamiento o asociación evidenciaron desde los inicios la gran contribución de la variación genotípica a la clínica en general, y a los TND en particular. No debe obviarse la utilidad de los estudios genéticos en el ejercicio clínico, encaminados al diagnóstico etiológico. La mayor parte de los mismos están protocolizados en el estudio de trastornos como la discapacidad intelectual y el autismo; dentro de éstos, la hibridación por arrays cromosómicos ha aportado una mayor rentabilidad diagnóstica respecto a técnicas citogenéticas históricas (3 vs. 10% respectivamente). Sin embargo, la irrupción y rentabilidad de técnicas de genética molecular por secuenciación, particularmente la exómica y genómica en trío, analizando a padres, (tasas diagnósticas del 30-50%), están condicionando la modificación de los algoritmos genéticos en el diagnóstico de trastornos graves del neurodesarrollo. El mayor conocimiento de variantes causales de discapacidad intelectual y autismo está igualmente modificando los modelos teóricos poligénicos establecidos hasta la fecha.

RESUMO Introdução: A pressão positiva contínua nas vias aéreas nasais (CPAP) é uma forma não invasiva de ventilação utilizada em recém-nascidos prematuros em unidades de terapia intensiva. Porém, ela pode acometer o nariz destes pacientes, evoluindo até mesmo com isquemia e necrose columelar. Diversas técnicas são descritas para reconstruir a columela, como enxertos de pele, enxertos compostos, retalhos locais e retalhos livres; mas o enxerto composto condrocutâneo auricular tem se destacado. O objetivo deste trabalho é descrever um caso de necrose de columela por uso de CPAP com reconstrução utilizando enxertia condrocutânea auricular posterior. Relato do Caso: Paciente do sexo feminino, parda, com história de prematuridade e uso prolongado de CPAP quando recém-nascida devido à síndrome da membrana hialina, evoluiu com necrose de columela. Foi submetida à enxertia composta condrocutânea auricular posterior para reconstrução da columela. A paciente apresentou resultado cirúrgico satisfatório, evoluindo com 100% de vitalidade do enxerto. Discussão: A necrose columelar associada ao uso do CPAP pode ser estética e funcionalmente debilitante, e representa um desafio reconstrutivo. As opções para obter resultados aceitáveis são limitadas, porém o uso de enxertos de orelha é tecnicamente simples, utiliza tecidos doadores estruturalmente semelhantes, não provoca cicatrizes adicionais no nariz, é realizado em um tempo cirúrgico e geralmente tem um resultado muito bom. A enxertia composta auricular posterior para reconstrução columelar se mostrou segura, com resultado estético e funcional satisfatório e mínima morbidade da área doadora. Introdução (CPAP recémnascidos recém nascidos intensiva Porém pacientes pele compostos livres destacado Caso feminino parda recémnascida nascida hialina 100 Discussão debilitante reconstrutivo limitadas simples semelhantes bom segura doadora 10 1

ABSTRACT Introduction: Continuous positive pressure in the nasal airways (CPAP) is a non-invasive form of ventilation used in premature newborns in intensive care units. However, it can affect the nose of these patients, even evolving with ischemia and columellar necrosis. Several techniques are described to reconstruct the columella, such as skin grafts, composite grafts, local flaps, and free flaps, but the atrial chondrocutaneous graft has stood out. This study aims to describe a case of columella necrosis using CPAP with reconstruction using posterior atrial chondrocutaneous grafting. Case Report: A brown, female patient, with a history of prematurity and prolonged use of CPAP when she was born due to hyaline membrane syndrome, developed columella necrosis. The patient underwent posterior auricular chondrocutaneous grafting to reconstruct the columella. She presented a satisfactory surgical result, evolving with 100% graft vitality. Discussion: Columellar necrosis associated with the use of CPAP can be aesthetically and functionally debilitating, and represents a reconstructive challenge. The options for obtaining acceptable results are limited. However, the use of ear grafts is technically straightforward, uses structurally similar donor tissues, does not cause additional scarring on the nose, is performed in a surgical period, and generally has an excellent result. Posterior auricular composite grafting for columellar reconstruction proved safe, with satisfactory aesthetic and functional results and minimal morbidity in the donor area. Introduction (CPAP noninvasive non invasive units However patients flaps out Report brown syndrome result 100 vitality Discussion debilitating challenge limited straightforward tissues period safe area 10 1

RESUMO Jabuticaba e jussara são frutos da Mata Atlântica brasileira e são espécies de frutos em risco de extinção devido à sua exploração insustentável. Para proteger essas plantas, é preciso desenvolver novos produtos que as utilizem como matérias-primas. No presente trabalho, desenvolvemos um néctar pronto para consumo de jabuticaba com a adição de polpa de jussara liofilizada (LJP) realizando testes sensoriais como teste de aceitação e Check-All-That-Apply (CATA). As condições sensoriais ótimas variaram entre 150 g L-1 e 200 g L-1 para concentração de sacarose e entre 450 mL L-1 e 550 mL L-1 para concentração de polpa de jabuticaba. A concentração ideal de LJP como corante natural foi obtida no teste de escala do ideal e foi igual a 7,2 g L-1 (R2=0,99902). O teste afetivo mostrou que os néctares com adição de LJP tiveram maiores médias de aceitação do que as amostras sem o corante (P<0,05). A adição de LJP aumentou em 5 vezes o teor de fenólicos totais. Amostras com LJP tiveram perfis sensoriais descritivos semelhantes, assim como amostras sem a adição do corante, de acordo com os resultados do CATA (P>0,05). O néctar de jabuticaba com adição de LJP foi bem aceito pelos consumidores (P<0,05), indicando potencial comercial para esse produto.

ABSTRACT Jabuticaba and jussara are both fruits from the Brazilian Atlantic Forest and endangered plant species due to their unsustainable exploitation. In order to protect these plants, it is important to develop products made with these fruits. We have developed a ready-to-drink jabuticaba nectar with the addition of lyophilized jussara pulp (LJP) applying sensory tests, such as acceptance test and Check-All-That-Apply (CATA). Optimal sensory conditions ranged between 150 g L-1 and 200 g L-1 for sucrose concentration and between 450 mL L-1 and 550 mL L-1 for jabuticaba pulp concentration. Just-about-right scale showed that the ideal concentration of LJP used as a natural color additive was 7.2 g L-1 (R2=0.99902). Affective test showed that nectars added with LJP had higher acceptance means than samples without the colorant (P<0.05). LJP addition led to 5.0-fold increase in total phenolic contents. Samples colored with LJP had similar sensory descriptive profiles, as well as nectars without jussara colorant, according to CATA results (P>0.05). Jabuticaba nectar added with LJP presented high acceptance among consumers (P<0.05), indicating commercial potential for this product.

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and non-achievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.

El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos -particularmente los relacionados con el aprendizaje y la ansiedad-, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.

Resumen: La endometriosis se define como la presencia de glándulas endometriales y/o estroma fuera de la cavidad uterina. Afecta a mujeres en edad fértil y su etiología es desconocida, aunque se reconoce un componente genético. La endometriosis apendicular es una entidad infrecuente que se presenta como dolor abdominal crónico recurrente. Presentamos el caso de una paciente que consultó por dolor abdominal en fosa ilíaca derecha. Se realizó laparoscopía exploradora y apendicectomía cuyo análisis anatomopatológico informó endometriosis apendicular.

Abstract: Endometriosis is defined as the presence of endometrial glands and/or stroma outside the uterine cavity. It affects women of childbearing age, and its etiology is unknown, although a genetic component is recognized. Appendiceal endometriosis is an unusual condition which presents as chronic or recurrent abdominal pain. We present the case of a patient who consulted for abdominal pain in the right iliac fossa. Exploratory laparoscopy and appendectomy were performed, the histological analysis of which reported appendiceal endometriosis.

Resumo: Define-se endometriose como a presença de glândulas endometriais e/ou estroma fora da cavidade uterina. Afeta a mulheres em idade fértil, e sua etiologia não é conhecida, embora se reconheça um componente genético. A endometriose apendicular é uma entidade pouco frequente que se apresenta com dor abdominal crônica recorrente. Apresentamos o caso de uma paciente que consultou por dor abdominal na fossa ilíaca direita. Realizou-se uma laparoscopia exploradora e apendicectomia cujo laudo anatomopatológico informou endometriose apendicular.

RESUMO Introdução: As queimaduras constituem um importante problema de saúde pública, representando a segunda causa de morte na infância não só nos Estados Unidos como também no Brasil. Porém, existem poucos dados e informações disponíveis para orientar programas de prevenção. O objetivo do trabalho foi de analisar dados epidemiológicos de pacientes com o diagnóstico de queimadura internados traçando um perfil dos pacientes no período estudado. Método: Estudo retrospectivo dos 716 pacientes internados no período de janeiro de 2011 a maio de 2017 na Santa Casa de Misericórdia de Santos (SCMS) para a especialidade de Cirurgia Plástica. Foram analisados o perfil demográfico, tempo de internação e mortalidade. Resultados: Dos 716 pacientes internados, a média de idade total é de 29 anos em ambos sexos e nesse período 28 foram a óbito, com média de idade de 58,6 anos. Conclusão: O estudo mostrou o perfil dos pacientes internados na SCMS e a importância dos cuidados com os pacientes queimados e todos os fatores de mau prognóstico, como a idade mais avançada, que se colocou como um importante fator para a evolução desfavorável dos casos. Introdução pública Brasil Porém prevenção estudado Método 71 201 (SCMS Plástica demográfico mortalidade Resultados 2 óbito 586 58 6 58, Conclusão prognóstico avançada casos 7 20 5

ABSTRACT Introduction: Burns are an important public health problem, representing the second cause of death in childhood not only in the United States but also in Brazil. However, available data and information for guiding prevention programs are limited. The objective of this study was to analyze the epidemiological data of hospitalized patients diagnosed with burns and to outline a profile of the patients in the study period. Methods: A retrospective study of the 716 hospitalized patients from January 2011 to May 2017 at Santa Casa de Misericórdia de Santos (SCMS) for Plastic Surgery was performed. The demographic profile, length of hospital stay, and mortality were analyzed. Results: Of the 716 hospitalized patients, the mean age was 29 years in both sexes, and 28 patients, with a mean age of 58.6 years, died during the study period. Conclusion: The study showed the profile of hospitalized patients in SCMS and the importance of care in burn patients. All factors of poor prognosis were determined, and older age was considered an important factor for the unfavorable progression of the cases. Introduction problem Brazil However limited period Methods 71 201 (SCMS performed stay analyzed Results 2 sexes 586 58 6 58. Conclusion determined cases 7 20 5

The behavior of roasted coffee extract and its isolated high molecular weight fraction have been investigated as carbon steel corrosion inhibitors in HCl solution by weight loss measurements, potentiodynamic polarization curves, electrochemical impedance and scanning electron microscopy analysis. All results showed that the high molecular weight fraction, rich in melanoidins, present an important role in the inhibitory action of the roasted coffee extract in the acid corrosion of carbon steel.