Splenic rupture in dairy cattle: Report of 24 cases.

Splenic rupture in cattle is scarcely described in the literature. The aim of this work was to report the occurrence of splenic rupture in cattle in southern Brazil as well as to describe the causes of the condition. Between 2013 and 2022, 24 of the 1769 bovine necropsies performed in southern Brazil were due to splenic rupture, accounting for 1.36% of the diagnoses. Animals died due to hemoperitoneum caused by a rupture in the splenic capsule, typically associated with marked splenomegaly and a large hematoma between the capsule and the parenchyma. Clinical signs were described in a subset of cases (11 of 24 cases, 46%) and included apathy, abdominal pain, mucosal pallor, tachycardia, and respiratory distress. However, the majority (13 of 24 cases, 54%) presented as sudden death. The underlying cause of splenic rupture was established as follows: 16 cases (67%) secondary to babesiosis, 4 cases (17%) due to lymphoma, 1 case (4%) due to a thrombus, 1 case (4%) due to external trauma, 1 case due to a ruptured nodular lymphoid hyperplasia (4%), and 1 case of undetermined cause (4%). Hypovolemic shock caused by splenic rupture is an important cause of death of dairy cattle, and babesiosis and bovine leukemia virus-associated lymphoma are among the most common etiologic diagnoses (84% of cases). The description of the causes of this condition is important to clarify the pathogenesis and occurrence of splenic rupture in dairy cattle.

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet-Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases.

Spectralities of ADHD: hauntological diagnosis amidst agency, politics and pedagogies.

Hauntology has become an increasingly alluring concept in social sciences to reflect upon everyday life and how subjects dwell upon scenarios pervaded not only by the potency of the actual but also the haunting of the past and the virtual. Drawing on the concept of 'hauntology', we inquire about recurring temporalities and spectrality themes concerning the 'controversial' diagnosis of attention deficit hyperactivity disorder (ADHD) in Chile. Using participant observation and in-depth interviews with health practitioners, teachers, school staff, diagnosed children, and their peers from 3-year-long research, we examine how the performance of the diagnosis by clinicians at times can produce a modification of the temporality of the diagnosed children from that moment forth. Amidst tension created by educational policies, ideas of well-being, pedagogical practices, and everyday living, the diagnosis keeps repeating its agentic capacity while resisting its decay, becoming ever-present and actual. Once cast, the diagnosis acts as a repeating force that can shape every experience, cancelling the possibility for the child to become different by unfolding out of the diagnosis.

Evaluation of chronic diarrhea in patients newly diagnosed with HIV infection through the FilmArray® gastrointestinal panel.

INTRODUCTION: The treatment and diagnosis of chronic diarrhea in the immunocompromised patient depends on the ability to rapidly detect the etiologic agents. AIMS: Our aim was to evaluate the results of the FilmArray® gastrointestinal panel in patients newly diagnosed with HIV infection that presented with chronic diarrhea. MATERIAL AND METHODS: Utilizing nonprobability consecutive convenience sampling, 24 patients were included that underwent molecular testing for the simultaneous detection of 22 pathogens. RESULTS: In 24 HIV-infected patients with chronic diarrhea, enteropathogen bacteria were detected in 69% of the cases, parasites in 18%, and viruses in 13%. Enteropathogenic Escherichia coli and enteroaggregative Escherichia coli were the main bacteria identified, Giardia lamblia was found in 25%, and norovirus was the most frequent viral agent. The median number of infectious agents per patient was three (range of 0 to 7). The biologic agents not identified through the FilmArray® method were tuberculosis and fungi. CONCLUSIONS: Several infectious agents were simultaneously detected through the FilmArray® gastrointestinal panel in patients with HIV infection and chronic diarrhea.

Evaluating pregnancy termination decisions for fetal anomalies: a retrospective study in a tertiary referral center

SUMMARY OBJECTIVE: The aim of this study was to examine the factors that influence pregnancy termination due to fetal anomalies, regardless of gestational age, within the legal framework of Turkey. METHODS: This retrospective study was conducted between January 2021 and July 2023 at a tertiary perinatology center to analyze patients undergoing pregnancy termination. The process involved multidisciplinary evaluations and informed consent, resulting in 326 pregnancy terminations, categorized by gestational timing. RESULTS: Of the 326 patients studied, 219 opted for terminations. Gestational week at diagnosis significantly influenced the decision to terminate, with fetal anomalies being the primary indication. Chromosomal abnormalities accounted for 15.9% of the cases, while structural anomalies and maternal disorders accounted for 84.1% and structural malformations accounted for 84.1% of the cases. Late terminations (≥23 weeks) accounted for 30% of cases and required complex procedures. CONCLUSION: The findings of this study indicate that maternal demographic factors have a limited impact on termination decisions. Early diagnosis of fetal anomalies is crucial for informed decision-making and emotional support, and the psychological consequences of late termination highlight the need for maternal support. Obstetricians play a vital role in facilitating early intervention. This study underscores the complex medical, ethical, and psychological aspects of pregnancy termination due to fetal anomalies. It emphasizes the importance of a holistic approach, considering medical, ethical, and psychological factors and the crucial role of healthcare professionals in supporting families during this challenging process.

Tabla de la normalidad de las pruebas psicométricas para el diagnóstico de encefalopatía hepática subclínica en la población Dominicana / Score of normality psychometric tests for the diagnosis of subclinical hepatic encephalopathy in the Dominican Population

Introducción: La encefalopatía hepática mínima (EHM), es una enfermedad definida por la existencia de varias alteraciones neurofisiológicas, indetectables a la exploración neurológica y el examen clínico. Dentro de las estrategias diagnosticas para la EHM se contemplan las pruebas psicométricas (PHE), pero para su aplicación es indispensable la estandarización previamente en la población de estudio. Objetivo: El estudio se propuso determinar la tabla de la normalidad de las PHE para diagnosticar la encefalopatía hepática subclínica en una muestra de la población dominicana. Método: Se realizó un estudio descriptivo, prospectivo y transversal en un hospital de referencia nacional. Se analizaron 134 personas clasificados por grupos de edades (18-70 años de edad) y años de escolaridad. Se diseñó una tabla de 5x5. Se estudió la influencia de la edad, sexo, uso de espejuelo y de los años de escolarización en el rendimiento de cada uno de las PHE, para lo cual se utilizaron las siguientes pruebas estadísticas: análisis de varianza (ANOVA), prueba t de Student y regresión lineal. Resultado: La escolaridad y la edad fueron variables determinantes en el desempeño de las 5 pruebas psicométricas. Pero, la correlación univariable de la edad con el desempeño de la prueba TMS no hubo diferencias intra e inter grupos estadísticamente significativas (p>0.171). Conclusión: se confecciono la fórmula de predicción de resultados de los test psicométricos. Ninguno sobrepasó el punto de corte de la puntuación que oscila entre los -4 y los +2 puntos.

Introduction: Minimal hepatic encephalopathy (MHE) is a disease defined by the existence of several neurophysiological alterations, undetectable by neurological examination and clinical examination. Among the diagnostic strategies for EHM, psychometric tests (PHE) are contemplated, but for their application, prior standardization in the study population is essential. Objective: The study will need to determine the normality table of PHE to detect subclinical hepatic encephalopathy in a sample of the Dominican population. Method: A descriptive, prospective and cross-sectional study was carried out in a national reference hospital. 134 people classified by age groups (18-70 years of age) and years of schooling were analyzed. A 5x5 board is recommended. The influence of age, sex, use of glasses and years of schooling on the performance of each one of the PHEs was studied, for which the following statistical tests were used: analysis of variance (ANOVA), Student's t test and linear regression. Result: Schooling and age were determining variables in the performance of the 5 psychometric tests. But, the univariate coincidence of age with the performance of the TMS test, there were no statistically significant intra and inter group differences (p>0.171). Conclusion: the formula for predicting the results of the psychometric tests was made. None exceeded the cut-off point of the score that oscillates between -4 and +2 points.

Non-standard diagnostic assessment reliability in psychiatry: a study in a Brazilian outpatient setting using Kappa.

The use of Structured Diagnostic Assessments (SDAs) is a solution for unreliability in psychiatry and the gold standard for diagnosis. However, except for studies between the 50 s and 70 s, reliability without the use of Non-SDAs (NSDA) is seldom tested, especially in non-Western, Educated, Industrialized, Rich, and Democratic (WEIRD) countries. We aim to measure reliability between examiners with NSDAs for psychiatric disorders. We compared diagnostic agreement after clinician change, in an outpatient academic setting. We used inter-rater Kappa measuring 8 diagnostic groups: Depression (DD: F32, F33), Anxiety Related Disorders (ARD: F40-F49, F50-F59), Personality Disorders (PD: F60-F69), Bipolar Disorder (BD: F30, F31, F34.0, F38.1), Organic Mental Disorders (Org: F00-F09), Neurodevelopment Disorders (ND: F70-F99) and Schizophrenia Spectrum Disorders (SSD: F20-F29). Cohen's Kappa measured agreement between groups, and Baphkar's test assessed if any diagnostic group have a higher tendency to change after a new diagnostic assessment. We analyzed 739 reevaluation pairs, from 99 subjects who attended IPUB's outpatient clinic. Overall inter-rater Kappa was moderate, and none of the groups had a different tendency to change. NSDA evaluation was moderately reliable, but the lack of some prevalent hypothesis inside the pairs raised concerns about NSDA sensitivity to some diagnoses. Diagnostic momentum bias (that is, a tendency to keep the last diagnosis observed) may have inflated the observed agreement. This research was approved by IPUB's ethical committee, registered under the CAAE33603220.1.0000.5263, and the UTN-U1111-1260-1212.

Cystic neutrophilic granulomatous mastitis: A case report and review of the literature.

The present study describes a case of cystic neutrophilic granulomatous mastitis. The clinical and radiological findings of the patient were consistent with idiopathic granulomatous mastitis. Cystic neutrophilic granulomatous mastitis is a rare subtype of mastitis with a distinct histological pattern that is associated with the Corynebacterium species. The diagnosis and treatment of cystic neutrophilic granulomatous mastitis remains a significant challenge due to the scarcity of available data. The present study describes a classic case of cystic neutrophilic granulomatous mastitis that includes clinical, radiological and histopathological findings. To the best of our knowledge, this is the first case documenting radiological findings before and after treatment. This report encourages the consideration of this entity in the differential diagnoses of mastitis.

Revisão crítica da nova classificação das periodontites / Critical review of periodontitis classification

Para o correto diagnóstico e tratamento da doença periodontal precisamos usar as classificações da doença periodontal. A mais recente foi proposta pela Academia Americana de Periodontia em conjunto com a Federação Europeia de Periodontia. Para a assimilação dos conceitos estabelecidos precisamos avaliar criticamente as informações que foram trazidas pelo consenso realizado há quase 6 anos. O objetivo do presente estudo é revisar o tópico periodontite da classificação, de forma a colaborar para o entendimento dessa doença pelos estudantes de graduação.

The periodontal diseases classifications are important for the correct diagnosis and treatment of periodontal diseases. The most recent classification was proposed by the American Academy of Periodontology in a consensus with the European Federation of Periodontology. For the assimilation of the established concepts, a critical evaluation of the information that was brought by the consensus almost 6 years ago, must be performed. The objective of the present study is to review the periodontitis topic of the new classification, in order to contribute to the understanding of this disease by undergraduate students.

A Geospatial Model to Identify Areas Associated with Late- Stage Breast Cancer: A Spatial Epidemiology Approach.

OBJECTIVE: The aim of this study was to show how a geospatial model can be used to identify areas with a higher probability for late-stage breast cancer (BC) diagnoses. METHODS: Our study considered an ecological design. Clinical records at a tertiary care hospital were reviewed in order to obtain the place of residence and stage of the disease, which was classified as early (0-IIA) and late (IIB-IV) and whose diagnoses were made during the 2013-2017 period. Then, they were geolocated to identify the distribution and spatial trend. Subsequently, the pattern of location, i.e. scattered, random and concentrated, was statistically assessed and a geospatial model was elaborated to determine the probability of late diagnoses in the state of Jalisco, Mexico. RESULT: There were 1 954 (N) geolocated BC diagnoses: 58.3% were late. During the five-year period, a southwest-northeast trend was identified, nearly 9.5% of the surface of Jalisco, where 6 out of 10 (n= 751) late- stage diagnoses were concentrated. A concentrated and statistically significant pattern was identified in the southern, central and northern Pacific area of Jalisco, where the geospatial model delimited the places with the highest probability of late clinical stages (p <0.05). CONCLUSION: The geographical differences associated with the late diagnoses of BC suggest it is necessary to adapt and focus the strategies for early detection as an alternative to create a major impact on the population. Reproducible analysis tools were used in other contexts where geolocation data are available to complement public policies and strategies aimed to control BC.

Diagnósticos e intervenções de enfermagem frente aos riscos cardiovasculares originados pelo estresse na população em situação de rua / Diagnoses and nursing interventions against cardiovascular risks caused by stress in the homeless population

ntrodução: O estresse está relacionado às doenças cardiovasculares, que são responsáveis por 27% das mortes no Brasil. A população em situação de rua encontra-se exposta a fatores de risco necessitando avaliação e acompanhamento de saúde devido às condições de vida que levam ao estresse persistente e potencialmente fatal. Objetivo: Estabelecer diagnósticos e intervenções de enfermagem, relacionando estresse e DCV nesta população. Métodos e procedimento: Este é um estudo exploratório, transversal e quantitativo, realizado na área central de São Paulo com 119 voluntários selecionados por conveniência entre novembro de 2021 e julho de 2022, aprovado pelo CEP: 036417, CAAE:21519413.40000.5511. Resultado: 35% dos 119 entrevistados afirmam sentir muito estresse ou que isso afeta sua rotina. Valores de pressão arterial e frequência cardíaca estão acima do recomendado. A escala de Likert mostra 32% com proteção ineficaz, risco cardiovascular prejudicado e síndrome do estresse de realocação. Conclusão: Estratégias de saúde são cruciais para atender às necessidades humanas básicas da população em situação de rua, incluindo conscientização sobre riscos cardiovasculares e acesso a cuidados básicos de saúde. A implementação do processo de enfermagem pode ajudar a abordar essas necessidades. (AU)

Stress is related to cardiovascular diseases, which are responsible for 27% of deaths in Brazil. The homeless population is exposed to risk factors, requiring health evaluation and monitoring due to living conditions that lead to persistent and potentially fatal stress. Objective: To establish nursing diagnoses and interventions, relating stress and CVD in this population. Methods and procedure: This is an exploratory, cross-sectional, and quantitative study conducted in downtown São Paulo with 119 volunteers selected by convenience between November 2021 and July 2022, approved by CEP: 036417, CAAE:21519413.40000.5511. Result: 35% of 119 respondents report feeling high stress or that it affects their routine. Blood pressure and heart rate values are above recommended levels. The Likert scale shows 32% with ineffective protection, impaired cardiovascular risk, and relocation stress syndrome. Conclusion: Health strategies are crucial to meet the basic human needs of the homeless population, including awareness of cardiovascular risks and access to basic health care. The implementation of the nursing process can help address these needs.(AU)

El estrés está relacionado con las enfermedades cardiovasculares, que son responsables del 27% de las muertes en Brasil. A população em situação de rua encontra-se exposta a fatores de risco necessitando avaliação e acompanhamento de saúde devido às condições de vida que levam ao stress persistente e potencialmente fatal. Objetivo: Establecer diagnósticos e intervenciones de enfermagem, relacionando estresse e DCV nesta população. Método y procedimiento: Se trata de un estudio exploratorio, transversal y cuantitativo, realizado en el área central de São Paulo con 119 voluntarios seleccionados por conveniencia entre noviembre de 2021 y julio de 2022, aprobado por CEP: 036417, CAAE:21519413.40000.5511. Resultados: 35% de los 119 encuestados afirman sentir mucho estrés o que éste afecta su rutina. Los valores de presión arterial y frecuencia cardíaca están por encima de lo recomendado. Escala de Likert muestra 32% con protección ineficaz, riesgo cardiovascular alterado y síndrome de estrés de reubicación. Conclusión: Las estrategias de salud son cruciales para satisfacer las necesidades humanas básicas de las personas sin hogar, incluyendo la concienciación sobre los riesgos cardiovasculares y el acceso a la atención sanitaria básica. La aplicación del proceso de enfermería puede ayudar a abordar estas necesidades.(AU)

Systematic Review on EEG Analysis to Diagnose and Treat Autism by Evaluating Functional Connectivity and Spectral Power.

An abnormality in neural connectivity is linked to autism spectrum disorder (ASD). There is no way to test the concept of neural connectivity empirically. According to recent network theory and time series analysis findings, electroencephalography (EEG) can assess neural network architecture, a sign of activity in the brain. This systematic review aims to evaluate functional connectivity and spectral power using EEG signals. EEG records the brain activity of an individual by displaying wavy lines that depict brain cells' communication through electrical impulses. EEG can diagnose various brain disorders, including epilepsy and related seizure illness, brain dysfunction, tumors, and damage. We found 21 studies using two of the most common EEG analysis methods: functional connectivity and spectral power. ASD and non-ASD individuals were found to differ significantly in all selected papers. Due to high heterogeneity in the outcomes, generalizations cannot be drawn, and no single method is currently beneficial as a diagnostic tool. For ASD subtype delineation, the lack of research prevented the evaluation of these techniques as diagnostic tools. These findings confirm the presence of abnormalities in the EEG in ASD, but they are insufficient to diagnose. Our study suggests that EEG is useful in diagnosing ASD by evaluating entropy in the brain. Researchers may be able to develop new diagnostic methods for ASD which focuses on particular stimuli and brainwaves if they conduct more extensive studies with higher numbers and more rigorous study designs.

Estratégias de ensino do raciocínio clínico nos cursos de Medicina do Brasil - revisão integrativa / Teaching strategies for clinical reasoning in Brazilian medical schools - an integrative review

Resumo: Introdução: O raciocínio clínico é considerado uma das principais habilidades que devem ser desenvolvidas pelos estudantes de Medicina, porque permite a elaboração de hipóteses diagnósticas e orienta estratégias investigativas e diagnósticas de forma racional. Embora os educadores tradicionalmente foquem o ensino no modelo hipotético-dedutivo ou analítico, muitos professores de medicina enfrentam no seu dia a dia o desafio de encontrar novas estratégias para ajudar seus estudantes a desenvolver o raciocínio clínico. Objetivo: Este estudo realizou uma revisão integrativa da literatura para identificar as estratégias utilizadas no processo ensino-aprendizagem do raciocínio clínico, nas escolas médicas brasileiras. Método: A metodologia utilizada consistiu em seis etapas: 1. elaboração da pergunta da pesquisa; 2. definição dos critérios de inclusão e exclusão; 3. elenco das informações a serem extraídas; 4. avaliação dos estudos incluídos; 5. interpretação dos resultados; e 6. apresentação da revisão. Resultado: A maioria dos trabalhos apontam que o ensino do raciocínio clínico é realizado por meio de discussões de casos clínicos, de maneira incidental, em diversas disciplinas ou por meio do uso de metodologias ativas, como PBL, TBL e CBL. Apenas três trabalhos apresentados em congressos demonstraram experiências relacionadas à implantação de uma disciplina curricular obrigatória voltada especificamente ao ensino do raciocínio clínico. O ensino do raciocínio clínico é priorizado no internato em relação às fases clínicas e pré-clínicas. Conclusão: Poucos são os estudos que analisam a maneira como se dá o processo ensino-aprendizagem do raciocínio clínico nas escolas médicas brasileiras. Embora mais estudos sejam necessários, podemos verificar a falta de conhecimento teórico sobre raciocínio clínico como uma das principais causas de dificuldade para o desenvolvimento dessa competência pelos estudantes.

Abstract: Introduction: Clinical reasoning is considered one of the main skills that must be developed by medical students, as it allows the establishment of diagnostic hypotheses and directs investigative and diagnostic strategies using a rational approach. Although educators have traditionally focused the teaching method on the analytical model, many medical professors face the challenge in their daily lives of finding new strategies to help their students develop clinical reasoning. Objective: To carry out an integrative literature review to identify the strategies used in the teaching-learning process of clinical reasoning in Brazilian medical schools. Method: The methodology used consists of six steps: 1. creation of the research question; 2. definition of inclusion and exclusion criteria; 3. list of information to be extracted; 4. evaluation of included studies; 5. interpretation of results and 6. presentation of the review. Results: Most studies indicate that the teaching of clinical reasoning is carried out through discussions of clinical cases, incidentally, in different disciplines or through the use of active methodologies such as PBL, TBL and CBL. Only three studies presented at conferences disclosed experiences related to the implementation of a mandatory curricular discipline specifically aimed at teaching clinical reasoning. The teaching of clinical reasoning is prioritized in internships in relation to the clinical and pre-clinical phases. Final considerations: There are few studies that analyze how clinical reasoning is taught to medical students in Brazilian medical schools. Although more studies are needed, we can observe the lack of theoretical knowledge about clinical reasoning as one of the main causes of the students' difficulty in developing clinical reasoning.

Comparison of diagnosis frequency between versions of the European Consensus on Sarcopenia: a cross-sectional study / Comparação da frequência de diagnóstico entre as versões do Consenso Europeu sobre Sarcopenia: um estudo transversal

OBJECTIVE: To compare sarcopenia diagnosis according to 2 versions of the European Consensus on Sarcopenia (EWGSOP and EWGSOP2) in a sample of older adults. METHOD: This cross-sectional study included 82 community-dwelling older people from Porto Alegre, Brazil. The patients were assessed by trained professionals and were classified according to the criteria of the 2 versions of the consensus to show the differences between the classification models. RESULTS: The participants performed the Timed Up and Go test in < 7.21 seconds. On average, their performance on the 6-meter walk test was above the predicted value. Only 3 patients had a gait speed < 0.8 m/s. Handgrip strength was, on average, the predicted percentage. In the Short Physical Performance Battery, the scores of a few were intermediate but most were high. According to EWGSOP criteria, 92.18% were non-sarcopenic and 7.81% had severe sarcopenia, while according to EWGSOP2 criteria, 98.43% were non-sarcopenic, 1.56% were sarcopenic, and none had severe sarcopenia. The rate of sarcopenia diagnosis, which was 8.53% according to EWGSOP criteria, reduced to 3.65% according to EWGSOP2 criteria and the new cut-off points (p = 0.034). CONCLUSION: Although our sample was small, the reduction was significant, indicating that the change in criteria, even with lower cut-off points, reduced the probability of early diagnosis

OBJETIVO: Comparar a aplicação dos critérios e orientações das duas versões do Consenso Europeu sobre Sarcopenia (EWGSOP e EWGSOP2) para o diagnóstico e classificação, numa amostra de idosos residentes na comunidade. METODOLOGIA: Estudo transversal, com 82 idosos residentes na comunidade da cidade de Porto Alegre. Os pacientes foram avaliados por profissionais treinados e classificados segundo os critérios dos dois consensos para mostrar as diferenças entre os dois modelos de classificação.RESULTADOS: Em testes físicos como o timed up and go, a amostra realizou o teste em menos de 7,21 segundos. Em média, os idosos conseguiram caminhar no teste de caminhada de 6 metros mais do que a percentagem prevista para esse público. Apenas três pacientes apresentaram velocidade de caminhada inferior a 0,8 m/s. Na avaliação de força, os idosos conseguiram atingir, em média, o percentual previsto. No Short Physical Performance Battery, poucos tiveram desempenho intermediário. A maioria teve desempenho alto. Quando avaliados pelo EWGSOP, 92,18% eram não sarcopênicos, enquanto 7,81% eram sarcopênicos severos; e, quando avaliados pelo EWGSOP2, 98,43% eram não sarcopênicos, 1,56% sarcopênico e nenhum sarcopênico severo. A aplicação dos critérios EWGSOP2 e novos pontos de corte reduziram a capacidade de diagnóstico de sarcopenia na amostra de 8,53 para 3,65% (p = 0,034).CONCLUSÃO: Embora a amostra seja pequena, a redução é significativa e expressa que a mudança de critério, mesmo utilizando pontos de corte mais baixos para a amostra em análise, trouxe impacto no sentido de não diagnosticar precocemente

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

The widespread use of whole exome sequencing (WES) resulted in the discovery of multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping Mendelian disorders occurring in a patient, leading to a blended phenotype. In this study, we report on a child with autosomal recessive primary microcephaly-5 (MCPH5) and nephropathic cystinosis. The proband is the first child of consanguineous parents, presenting a complex phenotype including neurodevelopmental delay, microcephaly, growth restriction, significant delay of bone maturation, lissencephaly, and abnormality of neuronal migration, photophobia, and renal tubular acidosis. WES revealed two pathogenic and homozygous variants: a c.4174C>T variant in the ASPM gene and a c.382C>T variant in the CTNS gene, explaining the complex phenotype. The literature review showed that most of the patients harboring two variants in recessive disease genes are born to consanguineous parents. To the best of our knowledge, the patient herein described is the first one harboring pathogenic variants in both the ASPM and CTNS genes. These findings highlight the importance of searching for MPV in patients with complex phenotypes investigated by genome-wide testing methods, especially for those patients born to consanguineous parents.

Cutaneous melanoma diagnosis delay: socioeconomic and demographic factors influence

SUMMARY OBJECTIVE: Malignant cutaneous melanoma is the most aggressive type of skin cancer, and its early detection and prompt initiation of treatment play an important role in reducing disease-associated morbidity and mortality. Many factors influence the diagnosis of melanoma, and its recognition is essential for the development of strategies for its early detection. This study was carried out to Identify the main variables related to the delay in diagnosis of Malignant Cutaneous Melanoma and correlate them with the time interval for making the definitive diagnosis. METHODS: Retrospective analysis of 103 patient records from January 2015 to December 2020 correlating social, economic, demographic, and cultural factors with the time elapsed between the onset of symptoms and the diagnosis of malignant cutaneous melanoma. RESULTS: The average time to seek medical services from the onset of symptoms was 29.54 months. The mean time for a referral from the primary to the referral service was 1.35 months, and the factors that contributed to a faster diagnosis were lesion Breslow (>1 mm), lesion growth, income range (≤1.5 minimum wages), lower phototypes (I and II), not having gone to the Basic Healthcare Units, profession (household), smoking, and type of housing. CONCLUSIONS: Our findings demonstrate that there is still a great delay in the recognition of signs and symptoms related to the diagnosis of malignant cutaneous melanoma in our country, influenced by several socioeconomic and demographic factors.

Somatic mosaicism in patients with Fanconi anaemia: Proposal of alternative tissue for inconclusive diagnoses.

INTRODUCTION: Fanconi anaemia (FA) is a rare genetic disorder marked by progressive bone marrow failure, chromosomal fragility, and increased cancer susceptibility. Laboratory diagnosis includes chromosomal instability test and mutation investigation. A total of 15%-25% of all patients may have somatic mosaicism, characterized by two distinct haematopoietic cell populations, one resistant and one sensitive to agents that induce chromosomal breakage, which complicates the diagnosis by a high incidence of reverted cells leading to inconclusive or false-negative results. The study aimed to evaluate the use of bone marrow stromal mesenchymal cells (BM-MSCs) as an alternative, non-haematopoietic tissue for diagnosis. METHODS: Bone marrow mesenchymal stromal cells from 12 patients with positive diepoxybutane (DEB) tests were cultivated and analysed by cytogenetics and mutation investigation. RESULTS: The DEB test was performed at 0.1 and 0.01 µg/ml concentrations, with an index ranging from 0.24 to 1.00. At higher concentration, the metaphases number was lower, probably due to toxicity. Regarding the molecular investigation, all the mutations previously found in peripheral blood were identified on BM-MSC. CONCLUSION: This study demonstrated the possibility of using BM-MSCs as an alternative tissue for cytogenetic and molecular investigation. Future tests using an intermediate DEB concentration may lead to an optimal protocol that could be non-toxic to cells but provides conclusive results.

Five-Year Trends in Pediatric Mental Health Emergency Department Visits in Massachusetts: A Population-Based Cohort Study.

OBJECTIVES: To evaluate temporal changes in pediatric emergency department (ED) visits for mental health problems in Massachusetts based on diagnoses and patient characteristics and to assess trends in all-cause pediatric ED visits. STUDY DESIGN: This statewide population-based retrospective cohort study used the Massachusetts All-Payer Claims Database, which includes almost all Massachusetts residents. The study sample consisted of residents aged <21 years who were enrolled in a health plan between 2013 and 2017. Using multivariate regression, we examined temporal trends in mental health-related and all-cause ED visits in 2013-2017, with person-quarter as the unit of analysis; we also estimated differential trends by sociodemographic and diagnostic subgroups. The outcomes were number of mental health-related (any diagnosis, plus 14 individual diagnoses) and all-cause ED visits/1000 patients/quarter. RESULTS: Of the 967 590 Massachusetts residents in our study (representing 14.8 million person-quarters), the mean age was 8.1 years, 48% were female, and 57% had Medicaid coverage. For this population, mental health-related (any) and all-cause ED visits decreased from 2013 to 2017 (P < .001). Persons aged 18-21 years experienced the largest declines in mental health-related (63.0% decrease) and all-cause (60.9% decrease) ED visits. Although mental health-related ED visits declined across most diagnostic subgroups, ED visits related to autism spectrum disorder-related and suicide-related diagnoses increased by 108% and 44%, respectively. CONCLUSIONS: Overall rates of pediatric ED visits with mental health diagnoses in Massachusetts declined from 2013 to 2017, although ED visits with autism- and suicide-related diagnoses increased. Massachusetts' policies and care delivery models aimed at pediatric mental health may hold promise, although there are important opportunities for improvement.

Clinical indicators related to the nursing diagnosis "Post-trauma syndrome" in women victims of violence: A systematic review with meta-analysis.

INTRODUCTION: Identifying a nursing diagnosis to support women victims of violence is challenging for nurses. OBJECTIVE: To identify clinical indicators related to the nursing diagnosis Post-trauma syndrome in women victims of violence. METHODS: A systematic review to estimate diagnostic accuracy indices was conducted. The review was registered on the Prospective International Registry of Systematic Reviews approved with the register CDR42020222474. RESULTS: Twelve clinical indicators were investigated: depression symptoms, anxiety symptoms, alcohol abuse, stress overload, illicit drug use, body image disorder, paranoid ideation, hostility, somatic symptoms, insomnia, binge eating, and obesity. The six articles included in the quantitative synthesis provided four clinical indicators feasible for statistical analysis: depressive symptoms, anxiety symptoms, somatic symptoms, and stress overload. CONCLUSION: The study addresses the need for refinements in the nursing diagnoses related to violence against women. The identification of the nursing diagnosis Post-trauma syndrome in nursing practice enables the development of standardized and effective care plans for women victimized by violence.