Sinonasal Cancer Cases in a Nationwide Hospital Cancer Registry in Brazil, 2007-2021.

BACKGROUND: Sinonasal cancers (SNC) are rare cancers with a high proportion attributable to occupational carcinogens. This study aims to describe the sociodemographic, clinical, and occupational characteristics of subjects with SNC in Brazil. METHODS: Observational study conducted with secondary data from a network of Hospital Cancer Registries. We selected epithelial/unspecified SNC records with a year of diagnosis from 2007 to 2021. We performed descriptive statistics of SNC cases and calculated crude and age-standardized rates (ASR, standard: world population) by gender and Region of residence. RESULTS: We identified 2,384 cases, 1,553 (65.1%) in men and 831 (34.9%) in women. The mean age at diagnosis was 59 years for both. Most SNC (50.7% in men and 53.2% in women) originated from the maxillary sinus. Most (65.5% in men and 54.5% in women) were squamous cell carcinomas. Information on occupation was missing in the years 2019-2021. Most male SNC patients (44.8%) were employed in group 6 (Agricultural, forestry, and fishing workers), while women had been mainly (34.6%) working in groups 8 (Workers in the production of industrial goods and services, machine operators) and in group 6 (27.6%). Crude SNC incidence rates were 1.0 per million person-years in men and 0.5 in women, while ASR were 1.0 and 0.4, respectively. In both genders, the highest ASR was in Minas Gerais (men: 1.9; women: 0.7). CONCLUSIONS: Establishing the profile of Brazilians with sinonasal cancer can stimulate epidemiologic research for monitoring this group of cancers with a high association with occupational exposures.

A novel device for greater precision and safety in open-wedge high tibial osteotomy: cadaveric study.

INTRODUCTION: The complications of the open-wedge osteotomy technique (slope, hypo- and hypercorrection and fractures) are related to difficulties in the control of the open-wedge angle during surgery. MATERIALS AND METHODS: In this cadaveric study, we evaluated the safety and precision of a novel system, the Realignment High Control System (RHC), in the correction of knee mechanical axis and slope. The RHC has a fixation plate coupled to a dynamic device that opens the osteotomy continuously, allowing plate fixation before osteotomy wedge opening. RESULTS: All procedures were easily performed, with no fractures. The openings equaled the indicated by the navigation system for 7.5° and 10°, and for 5°, there was a statistically, although not clinically significant, difference of 0.6°. The slope shown by the RHC setting and in the navigation system was significantly different for the 10° setting only, with a mean difference of 0.563°. CONCLUSIONS: RHC facilitates the surgical technique of high tibial osteotomy, with gradual wedge opening, precise correction of the mechanical axis, and appropriate control of the tibial slope, even with larger openings.

Opening wedge high tibial osteotomy: navigation system compared to the conventional technique in a controlled clinical study.

PURPOSE: This study aimed to verify if the navigation system used in high tibial osteotomy (HTO) adds precision to the procedure regarding mechanical axis correction and prevention of tibial slope increases. METHODS: In this historically controlled study, patients with medial osteoarthrosis and genuvarum underwent HTO between 2004 and 2012; the first 20 were operated with the conventional technique, using pre-planning correction by the Dugdale method and 18 further patients were operated with the navigation system introduced in our hospital. RESULTS: The two groups were similar for pre-operative mechanical axis (mean 8.10 ± 3.14 for the control and 6.60 ± 2.50 for the navigated group), pre-operative tibial slope (mean 8.95 ± 3.47 versus 8.17 ± 3.11, respectively) and Lyshom score (40.85 ± 15.46 and 44.83 ± 16.86). After surgery, the control group presented mean mechanical axis of 3.35 ± 3.27, tibial slope of 13.75 ± 3.75 and Lyshom score of 87.60 ± 11.12. The navigated group showed a postoperative mechanical axis mean of 3.06 ± 1.70, tibial slope of 10.11 ± 0.18 and Lyshom score of 91.94 ± 11.61. CONCLUSIONS: The navigation system allowed a significantly better control of tibial slope. Patients operated with the navigation system had significantly better Lysholm scores.

The taxonomic identity of Trigona lacteipennis Friese, 1900 and description of a new bee species of the Trigona cilipes (Fabricius, 1804) group (Hymenoptera: Apidae: Meliponini).

A critical study of type material for Trigona lacteipennis Friese, 1900 and allied species is presented along with a discussion of literature data. This work reveals that T. lacteipennis is a junior subjective synonym of Melipona paupera Provancher, 1889 (new synonymy), a species currently classified placed in the genus Frieseomelitta. Similarly, T. lehmanni Friese, 1901 and T. parastigma Cockerell, 1918 are also junior subjective synonyms of Melipona paupera (new synonymies). Morphological characters, photographic illustrations of type specimens, and data on distribution are provided for Frieseomelitta paupera. Also, we describe a new species of Trigona cilipes species group, Trigona (Aphaneuropsis) silveirai sp. nov., which is very similar to the former and had been misidentified with it.

Anxiety Levels in Brazilian Women with Metastatic Breast Cancer Undergoing Palliative Chemotherapy: A Prospective Study.

OBJECTIVE: This study aimed to assess anxiety levels among women with metastatic breast cancer undergoing palliative chemotherapy. METHODS: A descriptive, prospective study was conducted at an oncology hospital in southern Brazil from September 2021 to October 2022. A total of 123 adult women receiving outpatient palliative chemotherapy were included in the study. Anxiety levels were evaluated using the State-Trait Anxiety Inventory at baseline, the fifth week, and the eleventh week of treatment. Data were analyzed using Kruskal-Wallis, Mann-Whitney, and Multiple General Regression Models. RESULTS: Women with advanced breast cancer had an average trait-anxiety score of 48.24±5.92. A progressive improvement in anxiety scores was observed throughout the treatment evaluation stages (44.90±5.89; 43.37±5.34; 42.58±5.75), with a significant difference between the evaluations (p=0.008). Significant correlations were found between trait-anxiety and work situation (p=0.010) and ovarian metastasis (p=0.022). The adjusted general regression model also showed statistical significance for baseline evaluation with offspring (p=0.045) and education level (p=0.041). CONCLUSION: Women with breast cancer undergoing palliative chemotherapy exhibited high trait-anxiety scores, which decreased significantly over the course of treatment.

Impact of financial toxicity on adults with cancer during the COVID-19 pandemic: an integrative review.

OBJECTIVES: to identify the repercussions of financial toxicity on the lives of adult cancer patients during the COVID-19 pandemic. METHODS: an integrative review was conducted using the PubMed, Web of Science, Scopus, and Embase databases, as well as the Virtual Health Library portal, in March 2023. RESULTS: out of 62 studies found, 13 were included for analysis. The primary repercussions of financial toxicity included difficulties in covering basic expenses such as food, housing, medication, transportation, and internet access; increased anxiety and concerns related to health and financial situations; reduction or absence of income; challenges in obtaining treatment or accessing healthcare services; rising expenses; and telemedicine as a less burdensome alternative. CONCLUSIONS: the pandemic has exacerbated financial toxicity; therefore, healthcare teams must recognize it as an adverse event of oncological treatment and understand its potential to affect various aspects of patients' lives.

Preoperative surgical planning versus navigation system in valgus tibial osteotomy: a cross-sectional study.

PURPOSE: The objective of this study was to verify whether the correction obtained using a navigation system (NS) corresponds to the wedge calculated by the Dugdale method (DM) in high tibial osteotomy (HTO). METHODS: We included 17 patients with primary varus and HTO indication, consecutively admitted to a public university hospital. All patients underwent panoramic radiography with bipedal load for the wedge calculation by DM. They underwent HTO with an opening wedge, fixed with an HTO plate and monitored by the OrthoPilot NS. Bone grafts were used in every case. The wedge opening obtained by the NS was compared to that calculated in the radiographs. RESULTS: The mean opening by DM was 9.53° and by the NS 11.8° (p < 0.045). CONCLUSIONS: There was a significant difference in the calculation of the wedge opening between the DM and NS. HTO without the aid of the NS could theoretically lead to undercorrection of the deformity.

Review of Trigona (Nostotrigona) Engel, 2021 from Brazil with description of three new species (Hymenoptera: Apidae: Meliponini).

Trigona Jurine, 1807 (Hymenoptera: Apidae: Meliponini) is a Neotropical genus of stingless bees that is most diverse in the Amazon biome. The subgenus T. (Nostotrigona) was recently described and contains the taxa of the T. recursa species-group. In the present study, three new species of this subgenus are described: T. daianeae sp. nov., T. juvenili sp. nov., and T. mandaloriana sp. nov., including new records of T. permodica Almeida, 1992 for Brazil. A distribution map for T. (Nostotrigona) species are also provided.

Nursing care directed to burned patients: a scoping review.

OBJECTIVES: to identify in the literature and summarize nursing care in a hospital environment directed to patients who suffered burns. METHODS: a scoping review, according to the JBI Reviewers' Manual recommendations, with a search in the MEDLINE, CINAHL, Web of Science, Scopus databases and in the Virtual Health Library portal, through articles published between 2016 and December 2021. RESULTS: of the total 419 articles found, nine were selected for analysis. The main care measures identified were changing dressings and types of coverage, vital sign control, non-pharmacological techniques for pain relief and opioid reduction. CONCLUSIONS: the complexity of burn care requires constant updating by the nursing team. Keeping it prepared to carry out the best nursing care practices for burn patients will promote adequate care, patient recovery and reduction of possible harm.

Influence of psoriasis lesions' location and severity on psychosocial disability and psychopathology. Observational study and psychometric validation of the SAPASI Portuguese version.

OBJECTIVES: The psychosocial impact of psoriasis is well documented. However, the contributing role of clinical disease characteristics is not satisfactorily explored. This study aimed to validate the Self-administered Psoriasis Area and Severity Index (SAPASI) to a Portuguese population (SAPASI-PT) and to perform its cross-validation, assessing how the results will generalize to an independent data set, with the Psoriasis Area and Severity Index (PASI), in order to assess the influence of psoriasis' severity on psychosocial disability and psychopathology. METHODS: A cross-sectional study with 228 patients with psoriasis was carried out. Data was collected through a sociodemographic and clinical questionnaire, SAPASI-PT, the Psoriasis Disability Index (PDI) and the Brief Symptoms Inventory (BSI). The cultural and linguistic adaptation of SAPASI to a Portuguese version and the cross validation with PASI was carried out. Multiple associations between psychosocial disability, psychopathology and severity, discomfort and location of lesions were investigated through logistic regression models. RESULTS: A good adjustment model for SAPASI-PT is found. Also, associations between psychosocial disability, psychopathology and the psoriasis severity and discomfort are found. The existence of lesions is positively associated with the severity of the disease. Patients with lesions in hands or genitals are those reporting a greater discomfort. The presence of lesions in hands is positively associated with PDI, i.e., with leisure and with treatment, marginally. Additionally, patients scoring higher in the personal dimension are found to have a significantly greater percentage of lesions in the genitals. CONCLUSIONS: The psoriasis severity and location of lesions are important determinants of patients´ quality of life. Lesions on face, hands and genitals are associated with a higher impact on psychosocial wellbeing of patients. Psychological counselling should be considered within psoriasis treatment context in patients with the described disease manifestations.

Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes.

Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microarray Analysis (CMA) was performed in patients with primary MDS without numerical and/or structural chromosomal alterations in karyotypes. A total of 17 patients was evaluated by GTG banding and eight patients showed no numerical and/or structural alterations. Then, the CMA was carried out and identified gains and losses CNVs and long continuous stretches of homozygosity (LCSHs). They were mapped on chromosomes 1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 14, 16, 17, 18, 19, 20, 21, X, and Y. Ninety-one genes that have already been implicated in molecular pathways important for cell viability were selected and in-silico expression analyses demonstrated 28 genes differentially expressed in mesenchymal stromal cells of patients. Alterations in these genes may be related to the inactivation of suppressor genes or the activation of oncogenes contributing to the evolution and malignization of MDS. CMA provided additional information in patients without visible changes in the karyotype and our findings could contribute with additional information to improve the prognostic and personalized stratification for patients.

Redescription of Nogueirapis Moure, 1953 with two new species from the Amazon forest (Hymenoptera: Apidae: Meliponini).

The bee genus Nogueirapis Moure is redescribed with the addition of new characters deriving from two new species from the Amazon rainforest. Nogueirapis batistai sp. nov. and N. rosariae sp. nov. are described and included in an identification key that covers all species of the genus. Occurrence records are updated for all species.

Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome.

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the DKC1 gene. GTC-banding revealed a male karyotype (46,XY) with no visible numerical or structural alterations. Chromosomal microarray analysis (CMA) showed a 0.36-Mb gain at Xq28 of maternal origin, encompassing 22 genes, including DKC1. Rearrangements and mutations involving this gene have been associated with dyskeratosis congenita, X-linked (OMIM 305000) and Hoyeraal-Hreidarsson syndrome. CMA was a powerful and efficient approach to identify a gain at Xq28 harboring the DKC1 gene in our patient with GDD syndromic features and no cutaneous alterations, suggesting that this variant is associated with the Hoyeraal-Hreidarsson syndrome.

Qualidade de Vida Relacionada à Saúde e Satisfação com o Tratamento Hospitalar de Adultos com Câncer: Estudo Observacional / Health-Related Quality of Life and Satisfaction with Hospital Treatment in Adults with Cancer: Observational Study / Calidad de Vida Relacionada con la Salud y Satisfacción con el Tratamiento Hospitalario en Adultos con Cáncer: Estudio Observacional

Introdução: Pacientes com câncer enfrentam percurso terapêutico longo e de alto nível de complexidade. Diante desse cenário, a satisfação com o tratamento hospitalar é um processo importante na recuperação da saúde, dada a possibilidade de se obter informações essenciais referentes às experiências de quem recebe o tratamento, as quais auxiliarão na adequação de condutas para prática da assistência de qualidade com possíveis implicações na qualidade de vida relacionada à saúde (QVRS). Objetivo: Analisar a QVRS e sua relação com a satisfação com o tratamento hospitalar de adultos com câncer. Método: Estudo observacional, analítico, de recorte transversal, realizado com 120 pacientes em tratamento clínico ou cirúrgico em um hospital referência no tratamento onco-hematológico localizado no Sul do Brasil, entre agosto de 2021 e janeiro de 2022. Foram utilizados os instrumentos Quality of Life Questionnaire Core 30 e Satisfaction with In-Patient Cancer Care, analisados descritivamente e por teste de correlação de Spearman. Resultados: A qualidade de vida global apresentou baixos escores (58,54/100) e maior comprometimento no domínio função social (44,17/100). Houve alto nível de satisfação com a equipe médica e de enfermagem, e maiores médias na escala habilidades técnicas (89,44/100 e 86,67/100, respectivamente). Verificou-se significância estatística entre a qualidade de vida global e todos os itens do instrumento de satisfação (p<0,05). Conclusão: A satisfação com o tratamento hospitalar impacta na qualidade de vida de adultos com câncer. Reconhecer as alterações na qualidade de vida e os determinantes que compõem a satisfação ao tratamento hospitalar pode contribuir para o aperfeiçoamento da assistência prestada.

Introduction: Patients with cancer face a long and high level of complexity therapeutic path. Given this scenario, satisfaction with hospital treatment is an important process in the recovery of health, because of the possibility of obtaining essential information about the experiences of those receiving treatment, which will help to match the conduct for the practice of quality care with possible implications for health-related quality of life (HRQL). Objective: To analyze the HRQL and its relationship with satisfaction with hospital treatment of adults with cancer. Method: Observational, analytical cross-sectional study conducted with 120 patients undergoing clinical or surgical treatment at a reference hospital of oncohematological treatment located in Southern Brazil between August 2021 and January 2022. The instruments used were Quality of Life Questionnaire Core 30 and Satisfaction with In-Patient Cancer Care, analyzed descriptively and by Spearman correlation test. Results: Global quality of life had low scores (58.54/100), greater impairment of the social functioning domain (44.17/100). There was a high level of satisfaction with medical and nursing staff, higher averages of the technical skills scale (89.44/100 and 86.67/100, respectively). Statistical significance was found between global quality of life and all items of the satisfaction instrument (p<0.05). Conclusion: Satisfaction with hospital treatment impacts the quality of life of adults with cancer. Recognizing changes in quality of life and determinants of the satisfaction with hospital treatment can contribute to improve the care provided.

Introducción: Los pacientes con cáncer enfrentan una larga y compleja experiencia terapéutica. Ante ese escenario, la satisfacción con el tratamiento hospitalario es un proceso importante en la recuperación de la salud, dada la posibilidad de obtener informaciones esenciales referentes a las experiencias de quien recibe el tratamiento, las cuales ayudarán en la adecuación de conductas para la práctica de la asistencia de calidad con posibles implicaciones en la calidad de vida relacionada con la salud (CVRS). Objetivo: Analizar la CVRS y su relación con la satisfacción con el tratamiento hospitalario de adultos con cáncer. Método: Estudio observacional, analítico, de corte transversal, realizado con 120 pacientes en tratamiento clínico o quirúrgico en un hospital referencia en el tratamiento oncohematológico localizado en el Sur de Brasil, entre agosto de 2021 y enero de 2022. Se utilizaron los instrumentos Quality of Life Questionnaire Core 30 y Satisfaction with In-Patient Cancer Care, analizados descriptivamente y por prueba de correlación de Spearman. Resultados: La calidad de vida global presentó bajas puntuaciones (58,54/100), mayor comprometimiento en el dominio función social (44,17/100). Hubo un alto nivel de satisfacción con el personal médico y de enfermería, mayores promedios en la escala habilidades técnicas (89,44/100 y 86,67/100, respectivamente). Se verificó significación estadística entre la calidad de vida global y todos los ítems del instrumento de satisfacción (p<0,05). Conclusión: La satisfacción con el tratamiento hospitalario impacta en la calidad de vida de adultos con cáncer. Reconocer los cambios en la calidad de vida y determinantes que componen la satisfacción al tratamiento hospitalario puede contribuir a mejorar la asistencia prestada.

Nursing care directed to burned patients: a scoping review / Cuidados de enfermería dirigidos a pacientes quemados: una revisión de alcance / Cuidados de enfermagem direcionados ao paciente queimado: uma revisão de escopo

ABSTRACT Objectives: to identify in the literature and summarize nursing care in a hospital environment directed to patients who suffered burns. Methods: a scoping review, according to the JBI Reviewers' Manual recommendations, with a search in the MEDLINE, CINAHL, Web of Science, Scopus databases and in the Virtual Health Library portal, through articles published between 2016 and December 2021. Results: of the total 419 articles found, nine were selected for analysis. The main care measures identified were changing dressings and types of coverage, vital sign control, non-pharmacological techniques for pain relief and opioid reduction. Conclusions: the complexity of burn care requires constant updating by the nursing team. Keeping it prepared to carry out the best nursing care practices for burn patients will promote adequate care, patient recovery and reduction of possible harm.

RESUMEN Objetivos: identificar en la literatura y resumir los cuidados de enfermería en ambiente hospitalario dirigidos a pacientes que sufrieron quemaduras. Métodos: revisión de alcance, según las recomendaciones del JBI Reviewers' Manual, con búsqueda en MEDLINE, CINAHL, Web of Science, Scopus y en el portal Biblioteca Virtual en Salud, a través de artículos publicados entre 2016 y diciembre de 2021. Resultados: del total de 419 artículos encontrados, nueve fueron seleccionados para el análisis. Las principales medidas de atención identificadas fueron cambio de apósitos y tipos de cobertura, control de signos vitales, técnicas no farmacológicas para el alivio del dolor y reducción de opioides. Conclusiones: la complejidad del cuidado de quemados exige una constante actualización por parte del equipo de enfermería. Mantenerlo preparado para llevar a cabo las mejores prácticas de atención de enfermería a los pacientes quemados promoverá la atención adecuada, la recuperación del paciente y la reducción de posibles daños.

RESUMO Objetivos: identificar na literatura e sintetizar os cuidados de enfermagem em ambiente hospitalar direcionados aos pacientes que sofreram queimaduras. Métodos: revisão de escopo, segundo recomendações do JBI Reviewers' Manual, com busca nas bases MEDLINE, CINAHL, Web of Science, Scopus e no portal Biblioteca Virtual em Saúde, através de artigos publicados entre 2016 e dezembro 2021. Resultados: do total 419 artigos encontrados, nove foram selecionados para análise. Os principais cuidados identificados foram troca de curativos e tipos de coberturas, controle dos sinais vitais, técnicas não farmacológicas para atenuação da dor e redução de opioides. Conclusões: a complexidade do cuidado em queimaduras requer constantes atualizações da equipe de enfermagem. Mantê-la preparada para a realização das melhores práticas de cuidado de enfermagem aos pacientes queimados promoverá a assistência adequada, recuperação do paciente e redução de possíveis danos.

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21.31 microdeletion detected by chromosomal microarray analysis (CMA). Conventional cytogenetics analysis by GTG-banding showed a female karyotype 46,XX for both girls. CMA revealed a microdeletion spanning approximately 500 kb in 17q21.31 in both girls, encompassing the following genes: CRHR1, MGC57346, CRHR1-IT1, MAPT-AS1, SPPL2C, MAPT, MAPT-IT1, STH, and KANSL1. Haploinsufficiency of one or more of these genes within the deleted region is the most probable cause of the probands' phenotype and is responsible for the phenotype seen in KDVS. CMA is a powerful diagnostic tool and an effective method to identify the de novo 17q21.31 microdeletion associated with KDVS in our probands.

Avaliação da toxicidade financeira (facitcost) de pacientes com câncer no sul do brasil / Assessment of financial toxicity (facit-cost) of patients with cancer in southern brazil / Evaluación de la toxicidad financiera (facitcost) de los pacientes con cáncer en el sur de brasil

RESUMO Objetivo: avaliar a toxicidade financeira e correlacionar o escore total com as características sociodemográficas e clínicas de pacientes com câncer assistidos em instituições pública e privada. Método: estudo transversal descritivo, realizado entre setembro de 2018 a janeiro de 2020 com 126 pacientes em tratamento quimioterápico no estado do Paraná, Brasil. Utilizou-se instrumento sociodemográfico e clínico e COmprehensive Score for financial Toxicity; para análise, o teste t de Student e Scoring Guidelines. Resultados: o escore médio da toxicidade financeira na amostra da instituição pública foi de 16,33, na privada de 24,02. Unindo as amostras, o escore médio foi de 18,95. Ao realizar correlação, verificou-se significância estatística com a renda na instituição pública (p-valor=0,002); na instituição privada, presença de comorbidade (p-valor=0,003) e uso de medicamentos (p-valor=0,042). Conclusão: reconhecer a toxicidade financeira como evento adverso auxiliará os profissionais num plano assistencial de acordo com as condições do paciente.

ABSTRACT Objective: to assess financial toxicity and associate the total score with the sociodemographic and clinical profile of cancer patients assisted in public and private institutions. Method: descriptive cross-sectional research conducted from September 2018 to January 2020 with 126 patients undergoing chemotherapy in the state of Paraná, Brazil. A sociodemographic and clinical instrument and the COmprehensive Score for financial Toxicity were used; Student's t-test and Scoring Guidelines were used for analysis. Results: the mean score of financial toxicity in the public institution sample was 16.33, in the private one 24.02. Combining the samples, the average score was 18.95. In the correlation analysis, statistical significance was found with the income in the public institution (p-value=0.002); in the private institution, having comorbidity (p-value=0.003) and use of medication (p-value=0.042). Conclusion: recognizing financial toxicity as an adverse event will help professionals to develop a care plan according to the patient's conditions.

RESUMEN Objetivo: evaluar la toxicidad financiera y correlacionar la puntuación total con las características sociodemográficas y clínicas de los pacientes con cáncer asistidos en instituciones públicas y privadas. Método: estudio descriptivo transversal realizado entre septiembre de 2018 y enero de 2020 con 126 pacientes en tratamiento de quimioterapia en el estado de Paraná, Brasil. Se utilizó el instrumento sociodemográfico y clínico y el COmprehensive Score for financial Toxicity; para el análisis, la prueba t de Student y las Scoring Guidelines. Resultados: la puntuación media de toxicidad financiera en la muestra de instituciones públicas fue de 16,33 y de 24,02 en la privada. Uniendo las muestras, la puntuación media fue de 18,95. Al realizar la correlación, se verificó la significación estadística con el ingreso en la institución pública (p-valor=0,002); en la institución privada, la presencia de comorbilidad (p-valor=0,003) y el uso de medicamentos (p-valor=0,042). Conclusión: reconocer la toxicidad financiera como un evento adverso ayudará a los profesionales en un plan de asistencia de acuerdo con las condiciones del paciente.

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions. We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype. We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement. The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications.

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.

BACKGROUND: Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. RESULTS: We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3. CONCLUSIONS: Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification.

Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies.