Complex Karyotype Detection in Chronic Lymphocytic Leukemia: A Comparison of Parallel Cytogenetic Cultures Using TPA and IL2+DSP30 from a Single Center.

Current CLL guidelines recommend a two parallel cultures assessment using TPA and IL2+DSP30 mitogens for complex karyotype (CK) detection. Studies comparing both mitogens for CK identification in the same cohort are lacking. We analyzed the global performance, CK detection, and concordance in the complexity assessment of two cytogenetic cultures from 255 CLL patients. IL2+DSP30 identified more altered karyotypes than TPA (50 vs. 39%, p = 0.031). Moreover, in 71% of those abnormal by both, IL2+DSP30 identified more abnormalities and/or abnormal metaphases. CK detection was similar for TPA and IL2+DSP30 (10% vs. 11%). However, 11/33 CKs (33%) were discordant, mainly due to the detection of a normal karyotype or no metaphases in the other culture. Patients requiring treatment within 12 months after sampling (active CLL) displayed significantly more CKs than those showing a stable disease (55% vs. 12%, p < 0.001). Disease status did not impact cultures' concordance (κ index: 0.735 and 0.754 for stable and active). Although CK was associated with shorter time to first treatment (TTFT) using both methods, IL2+DSP30 displayed better accuracy than TPA for predicting TTFT (C-index: 0.605 vs. 0.580, respectively). In summary, the analysis of two parallel cultures is the best option to detect CKs in CLL. Nonetheless, IL2+DSP30 could be prioritized above TPA to optimize cytogenetic assessment in clinical practice.

Assessment of school readiness and the importance of executive functions for learning / Avaliação da prontidão escolar e a importância das funções executivas para o aprendizado

ABSTRACT Objective: Considering the importance of the beginning of the academic trajectory for children to reach their full development, this work aims to evaluate the school readiness of preschool-age children and identify which factors influence these results, in order to contribute to the proposition of strategies that allow improving the teaching-learning process and child development. Methods: This is a cross-sectional, descriptive and analytical study with 443 preschool children belonging to the West Region Cohort (ROC Cohort), from the public school system of the city of São Paulo. School readiness was assessed by the International Development and Early Learning Assessment (IDELA) tool. Non-parametric techniques were used for the correlation analysis between IDELA scores and sociodemographic and socioeconomic conditions: Spearman's parametric correlation, Mann-Whitney and Kruskal-Wallis tests. Results: The children's mean age was 69 months (standard deviation — SD=2.8; ranging from 55 to 72 months) and most of them came from families with low socioeconomic level. Most children showed adequate readiness in the overall score (65%) and in most domains, except for emergent literacy, in which most (56.9%) were classified as "emergent". The highest percentage of insufficiency was identified in executive functions (4.1%), which showed a correlation only with the caregiver's education. Conclusions: Children had adequate school readiness scores, except for emergent literacy, but the insufficiency in executive functions may compromise the future schooling of these children. Thus, pedagogical proposals should consider these aspects for learning and pediatricians need to reinforce the habit of reading and playing games to stimulate child development.

RESUMO Objetivo: Considerando-se a importância do início da trajetória acadêmica para as crianças alcançarem o seu pleno potencial de desenvolvimento, este trabalho tem como objetivo avaliar a prontidão escolar de crianças em idade pré-escolar e identificar que fatores influenciam esses resultados, com a finalidade de propor estratégias que possam melhorar o processo de ensino-aprendizagem e o desenvolvimento da criança. Métodos: Trata-se de um estudo transversal, descritivo e analítico, com 443 pré-escolares pertencentes à Coorte da Região Oeste (Coorte ROC) da rede pública de ensino da cidade de São Paulo. A prontidão escolar foi avaliada pela ferramenta International Development and Early Learning Assessment (IDELA). Técnicas não paramétricas foram utilizadas para a análise de correlação entre escores de IDELA e as condições sociodemográficas e socioeconômicas: correlação paramétrica de Spearman, testes de Mann-Whitney e Kruskal-Wallis. Resultados: A média de idade das crianças foi de 69 meses (desvio padrão — DP=2,8; variando de 55 a 72 meses) e maioria era proveniente de famílias com baixo nível socioeconômico. A maioria das crianças apresentou prontidão adequada na pontuação geral (65%) e na maior parte dos domínios, com exceção da pré-escrita, na qual as crianças foram predominantemente (56,9%) classificadas como "emergentes". O maior percentual de insuficiência foi identificado nas funções executivas (4,1%), apresentando correlação apenas com a formação do cuidador. Conclusões: As crianças apresentaram escores adequados de prontidão escolar, exceto para a pré-escrita, mas a insuficiência nas funções executivas pode comprometer a escolaridade futura dessas crianças. Assim, as propostas pedagógicas devem considerar esses aspectos para a aprendizagem, e os pediatras precisam reforçar o hábito de ler e dos jogos e brincadeiras para estimular o desenvolvimento infantil.

Assessment of school readiness and the importance of executive functions for learning.

OBJECTIVE: Considering the importance of the beginning of the academic trajectory for children to reach their full development, this work aims to evaluate the school readiness of preschool-age children and identify which factors influence these results, in order to contribute to the proposition of strategies that allow improving the teaching-learning process and child development. METHODS: This is a cross-sectional, descriptive and analytical study with 443 preschool children belonging to the West Region Cohort (ROC Cohort), from the public school system of the city of São Paulo. School readiness was assessed by the International Development and Early Learning Assessment (IDELA) tool. Non-parametric techniques were used for the correlation analysis between IDELA scores and sociodemographic and socioeconomic conditions: Spearman's parametric correlation, Mann-Whitney and Kruskal-Wallis tests. RESULTS: The children's mean age was 69 months (standard deviation - SD=2.8; ranging from 55 to 72 months) and most of them came from families with low socioeconomic level. Most children showed adequate readiness in the overall score (65%) and in most domains, except for emergent literacy, in which most (56.9%) were classified as "emergent". The highest percentage of insufficiency was identified in executive functions (4.1%), which showed a correlation only with the caregiver's education. CONCLUSIONS: Children had adequate school readiness scores, except for emergent literacy, but the insufficiency in executive functions may compromise the future schooling of these children. Thus, pedagogical proposals should consider these aspects for learning and pediatricians need to reinforce the habit of reading and playing games to stimulate child development.

Mother-infant bonding and postpartum depression during the COVID-19 pandemic - a risk for nurturing care and child development.

OBJECTIVE: The COVID-19 pandemic Increased the risk of impairing the mother-infant bonding. The objectives of this study were to evaluate the early bond established between mother and infant and postpartum depression (PPD) in pregnancies that occurred during the pandemic period, to identify the factors that may have influenced these outcomes and to verify if there was an association between bonding and probable PPD. METHODS: This is a cross-sectional study of postpartum women from a public maternity hospital in the city of São Paulo conducted from February to June 2021, involving 127 mother-baby dyads. The initial data were collected in the immediate postpartum period and between 21-45 days after birth, using a semi-structured questionnaire on sociodemographic characteristics, gestational and birth conditions, and baby characteristics; the Edinburgh Postnatal Depression Scale (EPDS) and Postpartum Bonding Questionnaire (PBQ) were used to evaluate PPD and bonding, respectively. RESULTS: The presence of probable PPD and unplanned pregnancies were associated with higher PBQ score and risk to impaired bonding (p = 0.001 and p = 0.004, respectively). EPDS showed a high prevalence of PPD (29.1%) and was not associated with any Studied variable. Probably, this high prevalence of probable PPD was due to the context of insecurity secondary to the pandemic. CONCLUSIONS: We observed an increase in the prevalence of probable PPD and unplanned pregnancies during the first 18 months of the pandemic, which were associated with worse scores in mother-infant bonding. The impaired bond can affect the future development of children born during this period.

Characteristics of drug poisonings treated in eleven Spanish emergency departments: Differentiated analysis by sex. / Características de las intoxicaciones por drogas atendidas en once servicios de urgencias españoles: Análisis diferenciado por sexo.

In order to identify the sociodemographic, clinical, emergency management and severity differences of drug poisoning treated in Emergency Departments (ED) from a gender perspective, data on patients from 11 Spanish EDs were recorded over 24 months (August 2017-July 2019). The severity of intoxication was compared by sex and was based on the combined adverse event (orotracheal intubation, cardiorespiratory arrest, intensive care hospitalization, and death). We included 4,526 patients (men 75.5%), with a mean age of 33 years. The most frequent drugs were: cocaine (47.8%), cannabis (44.4%) and amphetamines (25.5%). Men consumed more GHB (5.6% vs. 1.9%, p < .001) and less benzodiazepines (8.0% vs. 11.1%, p = .002) and alcohol (57.2% vs. 61.2%, p = .028) than women, with no differences in other types of drugs. Men presented significantly more severe bradycardia (OR = 4.39, 95%CI = 1.03-18.7), chest pain (OR = 1.72, 95%CI = 1.27-2.35) and symptomatic hypertension (OR = 1.56, 95%CI = 1.06-2.30) and less anxiety (OR = 0.74, 95%CI = 0.61-0.89) and vomiting (OR = 0.64, CI95% = 0.51-0.80). Men had more combined adverse events (3.1% vs. 2.0%, p = .047) and a greater intubations (1.9% vs. 1.0%, p = .044), with no significant differences in the adjusted model (OR = 1.349, 95%CI = 0.827-2.202 and OR = 1.371, 95%CI = 0.700-2.685, respectively). Twelve patients died (0.3%), with no differences according to sex. Drug intoxications attended in the ED differ according to sex. GHB, benzodiazepines and alcohol are more frequently involved in men than women. Cardiovascular symptomatology is more prevalent in men, while anxiety and vomiting are more frequent in women, which cannot be explained by differences in sociodemographic characteristics or the drugs used. There were no differences in the severity of the intoxication episodes.

Con el objetivo de identificar, con perspectiva de género, las diferencias sociodemográficas, clínicas, manejo en urgencias y gravedad de las intoxicaciones por drogas atendidas en Servicios de Urgencias Hospitalarias (SUH), se registraron todos los pacientes atendidos en 11 SUH españoles durante 24 meses (agosto 2017-julio 2019). La gravedad de la intoxicación se basó en el evento adverso combinado (intubación orotraqueal, parada cardiorrespiratoria, hospitalización en intensivos, y muerte), comparándose según el sexo. Cuando se encontraron diferencias significativas en sintomatología o gravedad, los resultados se ajustaron por características sociodemográficas y drogas consumidas. Se incluyeron 4.526 pacientes (hombres 75,5%), con edad media de 33 años. Las drogas más frecuentes fueron cocaína (47,8%), cánnabis (44,4%) y anfetaminas (25,5%). Hubo más GHB en hombres (5,6% vs 1,9%, p < ,001) y más benzodiacepinas (8,0% vs 11,1%, p = ,002) y alcohol (57,2% vs 61,2%, p = ,028) en mujeres, sin diferencias en otras de drogas. Los hombres tuvieron significativamente más bradicardia grave (OR = 4,39, IC95% = 1,03-18,7), dolor torácico (OR = 1,72, IC95% = 1,27-2,35) e hipertensión sintomática (OR = 1,56, IC95% = 1,06-2,30) y menos ansiedad (OR = 0,74, IC95% = 0,61-0,89) y vómitos (OR = 0,64, IC95% = 0,51-0,80). Tuvieron también más eventos adversos combinados (3,1% vs 2,0%, p = ,047) y más intubaciones (1,9% vs 1,0%, p = ,044), pero sin diferencias significativas en el modelo ajustado (OR = 1,349, IC95% = 0,827-2,202 y OR = 1,371, IC95% = 0,700-2,685, respectivamente). Fallecieron 12 pacientes (0,3%), sin diferencias según sexo. Concluimos que existen diferencias según el sexo en las drogas que originan intoxicaciones atendidas en los SUH. Las diferencias en sintomatología cardiovascular (más en hombres) y ansiosa o digestiva (más en mujeres) no se explican por diferencias sociodemográficas o de drogas utilizadas. La gravedad de la intoxicación no se ve influida por el sexo.

Chemsex in HIV pre-exposure prophylaxis users: Assessment of mood disorders and addictive behavior.

The assessment of mood disorders and addiction linked to the practice of chemsex is of interest given the psychoactive substances used. The aim of this study was to assess risky sexual and addictive behavior to chemsex and related anxiety/depression symptoms in individuals receiving HIV pre-exposure prophylaxis (PrEP). In this cross-sectional study, all adults presenting for PrEP renewal at French sexual health centers were enrolled from January 2018 to March 2019. Participants completed a questionnaire on chemsex (i.e., the use of psychoactive substances before/during sex), including adapted Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) to chemsex addiction (questions of ASSIST were modified to focus on chemsex). Anxiety/depression was assessed with the Hospital Anxiety and Depression Scale. In the last 3 months before enrollment, 39.8% (94/236) of participants reported chemsex. The main psychoactive substances consumed during chemsex were cathinones (74.6%), gamma-hydroxybutyrate (66.3%), and other psychostimulants (60%). The median score of the chemsex-focused ASSIST was 8 [IQR25-75 : 3-15]; 72.2% of participants had a score justifying at least a brief intervention (>4). In multivariate analyses, anxiety and cathinones consumption were associated with an ASSIST score >4: OR 13.65 (95% CI 1.68-662.7), P = 0.0062, and OR 8.468 (95% CI 2.066-43.059), P = 0.0014, respectively. The level of addiction to the practice of chemsex can be difficult to estimate for the user, and the ASSIST makes it possible to evaluate this addiction and to direct the subjects toward specialized consultations of addictology, sexual health, or PrEP renewals. The implementation of the modified ASSIST in these consultations can allow early systematic screening and counseling.

Evaluation of 4 prognostic indices in follicular lymphoma treated in first line with immunochemotherapy.

Several clinical risk models have been proposed to predict the outcome of follicular lymphoma (FL). The development of next-generation sequencing technologies has allowed the integration of somatic gene mutations into clinical scores to build genotyped-based risk models, such as the m7-Follicular Lymphoma International Prognostic Index (FLIPI). We explored 4 clinical or clinicogenetic-risk models in patients with symptomatic FL who received frontline immunochemotherapy. Of 191 patients with FL grades 1 to 3a, 109 were successfully genotyped. The treatment consisted of rituximab (R) plus cyclophosphamide, vincristine, and prednisone (R-CVP)/cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) (72.5%) or R-bendamustine (R-B) (27.5%). The proportion of cases classified as high risk for FLIPI, FLIPI-2, PRIMA-prognostic index, or m7-FLIPI were 39.3%, 14%, 30.3%, and 22%, respectively. No case with low-intermediate FLIPI was upgraded in the m7-FLIPI, but 18 of the 42 high-risk patients with FLIPI were downgraded to low-risk m7-FLIPI. The sensitivity and specificity for the prediction of POD24 were highest for FLIPI. The discrimination between progression-free survival (PFS) and overall survival (OS) was the best for FLIPI (c-index: 0.644 and 0.727, respectively). When analyzed only in patients treated with R-B, m7-FLIPI showed a higher discrimination between PFS and OS. Thus, the FLIPI remains the clinical risk score with higher discrimination in patients with advanced FL treated with immunochemotherapy; however, the performance of the m7-FLIPI should be further investigated in patients treated with R-B.

Características de las intoxicaciones por drogas atendidas en once servicios de urgencias españoles: Análisis diferenciado por sexo / Characteristics of drug poisonings treated in eleven Spanish emergency departments: Differentiated analysis by sex

Con el objetivo de identificar, con perspectiva de género, las diferencias sociodemográficas, clínicas, manejo en urgencias y gravedad de las intoxicaciones por drogas atendidas en Servicios de Urgencias Hospitalarias (SUH), se registraron todos los pacientes atendidos en 11 SUH españoles durante 24 meses (agosto 2017-julio 2019). La gravedad de la intoxicación se basó en el evento adverso combinado (intubación orotraqueal, parada cardiorrespiratoria, hospitalización en intensivos, y muerte), comparándose según el sexo. Cuando se encontraron diferencias significativas en sintomatología o gravedad, los resultados se ajustaron por características sociodemográficas y drogas consumidas. Se incluyeron 4.526 pacientes (hombres 75,5%), con edad media de 33 años. Las drogas más frecuentes fueron cocaína (47,8%), cánnabis (44,4%) y anfetaminas (25,5%). Hubo más GHB en hombres (5,6% vs 1,9%, p < ,001) y más benzodiacepinas (8,0% vs 11,1%, p = ,002) y alcohol (57,2% vs 61,2%, p = ,028) en mujeres, sin diferencias en otras de drogas. Los hombres tuvieron significativamente más bradicardia grave (OR = 4,39, IC95% = 1,03-18,7), dolor torácico (OR = 1,72, IC95% = 1,27-2,35) e hipertensión sintomática (OR = 1,56, IC95% = 1,06-2,30) y menos ansiedad (OR = 0,74, IC95% = 0,61-0,89) y vómitos (OR = 0,64, IC95% = 0,51-0,80). Tuvieron también más eventos adversos combinados (3,1% vs 2,0%, p = ,047) y más intubaciones (1,9% vs 1,0%, p = ,044), pero sin diferencias significativas en el modelo ajustado (OR = 1,349, IC95% = 0,827-2,202 y OR = 1,371, IC95% = 0,700-2,685, respectivamente). Fallecieron 12 pacientes (0,3%), sin diferencias según sexo. Concluimos que existen diferencias según el sexo en las drogas que originan intoxicaciones atendidas en los SUH. Las diferencias en sintomatología cardiovascular (más en hombres) y ansiosa o digestiva (más en mujeres) no se explican por diferencias sociodemográficas o de drogas utilizadas. ... (AU)

In order to identify the sociodemographic, clinical, emergency management and severity differences of drug poisoning treated in Emergency Departments (ED) from a gender perspective, data on patients from 11 Spanish EDs were recorded over 24 months (August 2017-July 2019). The severity of intoxication was compared by sex and was based on the combined adverse event (orotracheal intubation, cardiorespiratory arrest, intensive care hospitalization, and death). We included 4,526 patients (men 75.5%), with a mean age of 33 years. The most frequent drugs were: cocaine (47.8%), cannabis (44.4%) and amphetamines (25.5%). Men consumed more GHB (5.6% vs. 1.9%, p < .001) and less benzodiazepines (8.0% vs. 11.1%, p = .002) and alcohol (57.2% vs. 61.2%, p = .028) than women, with no differences in other types of drugs. Men presented significantly more severe bradycardia (OR = 4.39, 95%CI = 1.03-18.7), chest pain (OR = 1.72, 95%CI = 1.27-2.35) and symptomatic hypertension (OR = 1.56, 95%CI = 1.06-2.30) and less anxiety (OR = 0.74, 95%CI = 0.61-0.89) and vomiting (OR = 0.64, CI95% = 0.51-0.80). Men had more combined adverse events (3.1% vs. 2.0%, p = .047) and a greater intubations (1.9% vs. 1.0%, p = .044), with no significant differences in the adjusted model (OR = 1.349, 95%CI = 0.827-2.202 and OR = 1.371, 95%CI = 0.700-2.685, respectively). Twelve patients died (0.3%), with no differences according to sex. Drug intoxications attended in the ED differ according to sex. GHB, benzodiazepines and alcohol are more frequently involved in men than women. Cardiovascular symptomatology is more prevalent in men, while anxiety and vomiting are more frequent in women, which cannot be explained by differences in sociodemographic characteristics or the drugs used. There were no differences in the severity of the intoxication episodes. (AU)

Mother-infant bonding and postpartum depression during the COVID-19 pandemic — a risk for nurturing care and child development / Vínculo mãe-bebê e depressão pós-parto durante a pandemia de COVID-19 — um risco para o nurturing care e o desenvolvimento da criança

ABSTRACT Objective: The COVID-19 pandemic Increased the risk of impairing the mother-infant bonding. The objectives of this study were to evaluate the early bond established between mother and infant and postpartum depression (PPD) in pregnancies that occurred during the pandemic period, to identify the factors that may have influenced these outcomes and to verify if there was an association between bonding and probable PPD. Methods: This is a cross-sectional study of postpartum women from a public maternity hospital in the city of São Paulo conducted from February to June 2021, involving 127 mother-baby dyads. The initial data were collected in the immediate postpartum period and between 21-45 days after birth, using a semi-structured questionnaire on sociodemographic characteristics, gestational and birth conditions, and baby characteristics; the Edinburgh Postnatal Depression Scale (EPDS) and Postpartum Bonding Questionnaire (PBQ) were used to evaluate PPD and bonding, respectively. Results: The presence of probable PPD and unplanned pregnancies were associated with higher PBQ score and risk to impaired bonding (p = 0.001 and p = 0.004, respectively). EPDS showed a high prevalence of PPD (29.1%) and was not associated with any Studied variable. Probably, this high prevalence of probable PPD was due to the context of insecurity secondary to the pandemic. Conclusions: We observed an increase in the prevalence of probable PPD and unplanned pregnancies during the first 18 months of the pandemic, which were associated with worse scores in mother-infant bonding. The impaired bond can affect the future development of children born during this period.

RESUMO Objetivo: A pandemia do COVID-19 aumentou o risco de o vínculo entre mãe-bebê ser prejudicado. Os objetivos deste estudo foram avaliar o vínculo mãe-bebê estabelecido precocemente e a depressão puerperal (DP) em gestações que ocorreram durante a pandemia, identificar os fatores que podem ter influenciado esses resultados e verificar se houve associação entre o vínculo e a provável depressão puerperal. Métodos: Foi realizado um estudo transversal com puérperas de uma maternidade pública da cidade de São Paulo, no período de fevereiro a junho de 2021, envolvendo 127 díades mãe-bebê. Os dados foram obtidos no puerpério imediato e 21 a 45 dias após o parto, utilizando-se um questionário semiestruturado sobre as características sociodemográficas, as condições de gestação e nascimento e características do recém-nascido; a escala de depressão puerperal de Edimburgo (EPDS) e o questionário de vínculo pós-parto (PBQ) foram utilizados para avaliar a presença de provável DP e o vínculo mãe-bebê, respectivamente. Resultados: A presença de provável DP e as gestações não planejadas foram associadas a maiores escores no PBQ e no risco de vínculo prejudicado (p = 0,001 e p = 0,004, respectivamente). A escala de Edimburgo mostrou alta prevalência de risco de depressão puerperal (29,1%) e não foi associada a nenhuma variável estudada. Provavelmente, a alta prevalência de provável DP foi secundária ao contexto de insegurança decorrente da pandemia. Conclusões: Observamos aumento na prevalência da provável DP e das gestações não planejadas durante os primeiros 18 meses da pandemia, os quais estiveram associados a piores escores no vínculo mãe-bebê. O prejuízo no vínculo pode afetar o desenvolvimento futuro das crianças geradas durante esse período.

Seroconversion in asymptomatic COVID-19 pediatric patients with rheumatic diseases of one tertiary referral hospital.

OBJECTIVES: To evaluate seroconverted asymptomatic COVID-19 in pediatric Autoimmune Rheumatic Diseases (ARDs) patients and to identify the risk factors related to contagion. METHODS: A cross-sectional study was conducted in March 2021, before vaccination of children and adolescents in Brazil, including 77 pediatric ARDs patients, followed at a tertiary hospital and 45 healthy controls, all of them without a previous diagnosis of COVID-19. Data was obtained by a questionnaire with demographic data, symptoms compatible with COVID-19 over the previous year, and contact with people with confirmed COVID-19. Patient's medical records were reviewed to access data regarding disease and current medications. A qualitative immunochromatographic SARS-CoV-2 test was performed on all participants. RESULTS: Patients and controls were similar in terms of female gender (70.1% vs. 57.8%, p = 0.173), age (14 vs. 13 years, p = 0.269) and SARS-CoV-2 positive serology (22% vs. 15.5%, p = 0.481). 80.5% of rheumatic patients were in use of immunosuppressive drugs: 27.3% of them used corticosteroids (33.3% in high doses), and 7.8% on immunobiologicals. No statistical differences were found between positive (n = 17) and negative serology (n = 60) patients regarding demographic/socioeconomic data, contact with people with confirmed COVID-19, use and number of immunosuppressive drugs, use and dose of corticosteroids, use of hydroxychloroquine and immunobiological drugs (p > 0.05). CONCLUSIONS: Pediatric rheumatic disease patients were infected at the same rate as healthy ones. Neither the underlying pathology nor its immunosuppressive treatment seemed to interfere with contagion risk.

Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL).

Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical−biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations (<15−20%). OGM underscored additional abnormalities, providing novel structural information on known aberrations in 55% of patients. Regarding genomic complexity, the number of OGM abnormalities had better accuracy in predicting TTFT than current methods (C-index: 0.696, 0.602, 0.661 by OGM, CBA, and CMA, respectively). A cut-off of ≥10 alterations defined a complex OGM group (C-OGM, n = 12), which included 11/14 patients with ≥5 abnormalities by CBA/CMA and one patient with chromothripsis (Kappa index = 0.778; p < 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p < 0.001) and a significantly shorter TTFT (median: 2 vs. 43 months, p = 0.014). OGM is a robust technology for implementation in the routine management of CLL patients, although further studies are required to define standard genomic complexity criteria.

Technical performance of a lateral flow immunoassay for detection of anti-SARS-CoV-2 IgG in the outpatient follow-up of non-severe cases and at different times after vaccination: comparison with enzyme and chemiluminescent immunoassays.

This study assessed the technical performance of a rapid lateral flow immunochromatographic assay (LFIA) for the detection of anti-SARS-CoV-2 IgG and compared LFIA results with chemiluminescent immunoassay (CLIA) results and an in-house enzyme immunoassay (EIA). To this end, a total of 216 whole blood or serum samples from three groups were analyzed: the first group was composed of 68 true negative cases corresponding to blood bank donors, healthy young volunteers, and eight pediatric patients diagnosed with other coronavirus infections. The serum samples from these participants were obtained and stored in a pre-COVID-19 period, thus they were not expected to have COVID-19. In the second group of true positive cases, we chose to replace natural cases of COVID-19 by 96 participants who were expected to have produced anti-SARS-CoV-2 IgG antibodies 30-60 days after the vaccine booster dose. The serum samples were collected on the same day that LFIA were tested either by EIA or CLIA. The third study group was composed of 52 participants (12 adults and 40 children) who did or did not have anti-SARS-CoV-2 IgG antibodies due to specific clinical scenarios. The 12 adults had been vaccinated more than seven months before LFIA testing, and the 40 children had non-severe COVID-19 diagnosed using RT-PCR during the acute phase of infection. They were referred for outpatient follow-up and during this period the serum samples were collected and tested by CLIA and LFIA. All tests were performed by the same healthcare operator and there was no variation of LFIA results when tests were performed on finger prick whole blood or serum samples, so that results were grouped for analysis. LFIA's sensitivity in detecting anti-SARS-CoV-2 IgG antibodies was 90%, specificity 97.6%, efficiency 93%, PPV 98.3%, NPV 86.6%, and likelihood ratio for a positive or a negative result were 37.5 and 0.01 respectively. There was a good agreement (Kappa index of 0.677) between LFIA results and serological (EIA or CLIA) results. In conclusion, LFIA analyzed in this study showed a good technical performance and agreement with reference serological assays (EIA or CLIA), therefore it can be recommended for use in the outpatient follow-up of non-severe cases of COVID-19 and to assess anti-SARS-CoV-2 IgG antibody production induced by vaccination and the antibodies decrease over time. However, LFIAs should be confirmed by using reference serological assays whenever possible.

Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.

Patients with oligomonocytic chronic myelomonocytic leukemia (OM-CMML) are currently classified according to the 2017 World Health Organization myelodysplastic syndromes classification. However, recent data support considering OM-CMML as a specific subtype of chronic myelomonocytic leukemia (CMML), given their similar clinical, genomic, and immunophenotypic profiles. The main purpose of our study was to provide survival outcome data of a well-annotated series of 42 patients with OM-CMML and to compare them to 162 patients with CMML, 120 with dysplastic type (D-CMML), and 42 with proliferative type (P-CMML). OM-CMML had significantly longer overall survival (OS) and acute myeloid leukemia-free survival than did patients with CMML, considered as a whole group, and when compared with D-CMML and P-CMML. Moreover, gene mutations associated with increased proliferation (ie, ASXL1 and RAS-pathway mutations) were identified as independent adverse prognostic factors for OS in our series. We found that at a median follow-up of 53.47 months, 29.3% of our patients with OM-CMML progressed to D-CMML, and at a median follow-up of 46.03 months, 28.6% of our D-CMML group progressed to P-CMML. These data support the existence of an evolutionary continuum of OM-CMML, D-CMML, and P-CMML. In this context, we observed that harboring more than 3 mutated genes, carrying ASXL1 mutations, and a peripheral blood monocyte percentage >20% significantly predicted a shorter time of progression of OM-CMML into overt CMML. These variables were also detected as independent adverse prognostic factors for OS in OM-CMML. These data support the consideration of OM-CMML as the first evolutionary stage within the proliferative continuum of CMML.

Infective Endocarditis in the Elderly: Challenges and Strategies.

The specific management of infective endocarditis (IE) in elderly patients is not specifically addressed in recent guidelines despite its increasing incidence and high mortality in this population. The term "elderly" corresponds to different ages in the literature, but it is defined by considerable comorbidity and heterogeneity. Cancer incidence, specifically colorectal cancer, is increased in older patients with IE and impacts its outcome. Diagnosis of IE in elderly patients is challenging due to the atypical presentation of the disease and the lower performance of imaging studies. Enterococcal etiology is more frequent than in younger patients. Antibiotic treatment should prioritize diminishing adverse effects and drug interactions while maintaining the best efficacy, as surgical treatment is less commonly performed in this population due to the high surgical risk. The global assessment of elderly patients with IE, with particular attention to frailty and geriatric profiles, should be performed by multidisciplinary teams to improve disease management in this population.

La asimilación de técnicas estadísticas en la formación del profesional en cultura física y deporte

La asimilación de las técnicas estadísticas tiene gran importancia durante la formación del profesional de Cultura Física y Deporte, dada la necesidad de su aplicación en los trabajos científicos investigativos desde los cuatro perfiles de egreso y de forma transversal en todas las disciplinas de la carrera. La implementación de estrategias de aprendizaje como herramientas para su asimilación, representa numerosos beneficios en virtud de formar profesionales competentes. El diagnóstico realizado a 107 estudiantes del curso diurno y siete profesores de la asignatura Informática y Análisis de Datos en la Universidad de Ciencias de la Cultura Física y el Deporte Manuel Fajardo permitió detectar, en los estudiantes, insuficiencias en la asimilación de estas técnicas lo que impide su correcta aplicación. Los profesores manifiestan falta de dominio sobre las estrategias de aprendizaje como herramientas que potencian el autoaprendizaje y la autorregulación. En el estudio, se propone como objetivo diseñar una estrategia didáctica que contribuya a la asimilación de técnicas estadísticas en la formación del profesional de Cultura Física y Deporte. Entre los métodos empleados se utilizaron el analítico-sintético, la modelación, el sistémico estructural funcional, las encuestas y las tablas de distribución empírica de frecuencia. La valoración teórica de la propuesta, declarada por los especialistas en las matrices ATJ, permitió pronosticar, con criterios satisfactorios, la validez de la estrategia didáctica presentada para su posterior puesta en práctica.

A assimilação de técnicas estatísticas é de grande importância durante a formação dos profissionais de Cultura Física e Desporto, dada a necessidade da sua aplicação em trabalhos de investigação científica dos quatro perfis de pós-graduação e em todas as disciplinas da carreira. A implementação de estratégias de aprendizagem como ferramentas para a sua assimilação, representa inúmeros benefícios em virtude da formação de profissionais competentes. O diagnóstico feito a 107 alunos do curso diurno e sete docentes da disciplina de Informática e Análise de Dados da Universidade Manuel Fajardo de Cultura Física e Ciências do Desporto permitiu detectar, nos alunos, insuficiências na assimilação destas técnicas, o que impede a sua correcta aplicação. Os professores mostram falta de domínio sobre as estratégias de aprendizagem como ferramentas que potencializam a autoaprendizagem e a autorregulação. O objetivo do estudo é: desenhar uma estratégia didática que contribua para a assimilação de técnicas estatísticas na formação de profissionais de Cultura Física e Esportes. Entre os métodos utilizados estão analítico-sintético, modelagem, funcional estrutural sistêmica, levantamentos e tabelas empíricas de distribuição de frequência. A avaliação teórica da proposta, declarada pelos especialistas das Matrizes ATJ, permitiu prever, com critérios satisfatórios, a validade da estratégia didática apresentada para sua posterior implementação.

The assimilation of statistical techniques is of great importance during the training of Physical Culture and Sports professionals, given the need for their application in scientific research work from the four graduate profiles and across all disciplines of the career. The implementation of learning strategies as tools for their assimilation, represents numerous benefits by virtue of training competent professionals. The diagnosis made to 107 students of the dau course and seven professors of the Computer Science and Data Analysis subject at the Manuel Fajardo University of Physical Culture and Sports Sciences allowed to detect, in the students, insufficiencies in the assimilation of these techniques, which prevents their correct application. Teachers show lack of mastery over learning strategies as tools that enhance self-learning and self-regulation. The objective of the study is to: design a didactic strategy that contributes to the assimilation of statistical techniques in the training of Physical Culture and Sports professionals. Among the methods used are analytical-synthetic, modeling, functional structural systemic, surveys and empirical frequency distribution tables. The theoretical assessment of the proposal, declared by the specialists in the ATJ Matrices, allowed to predict, with satisfactory criteria, the validity of the didactic strategy presented for its subsequent implementation.