Harmonization of clinical practice guidelines for primary prevention and screening: actionable recommendations and resources for primary care.

BACKGROUND: Clinical practice guidelines (CPGs) synthesize high-quality information to support evidence-based clinical practice. In primary care, numerous CPGs must be integrated to address the needs of patients with multiple risks and conditions. The BETTER program aims to improve prevention and screening for cancer and chronic disease in primary care by synthesizing CPGs into integrated, actionable recommendations. We describe the process used to harmonize high-quality cancer and chronic disease prevention and screening (CCDPS) CPGs to update the BETTER program. METHODS: A review of CPG databases, repositories, and grey literature was conducted to identify international and Canadian (national and provincial) CPGs for CCDPS in adults 40-69 years of age across 19 topic areas: cancers, cardiovascular disease, chronic obstructive pulmonary disease, diabetes, hepatitis C, obesity, osteoporosis, depression, and associated risk factors (i.e., diet, physical activity, alcohol, cannabis, drug, tobacco, and vaping/e-cigarette use). CPGs published in English between 2016 and 2021, applicable to adults, and containing CCDPS recommendations were included. Guideline quality was assessed using the Appraisal of Guidelines for Research and Evaluation (AGREE) II tool and a three-step process involving patients, health policy, content experts, primary care providers, and researchers was used to identify and synthesize recommendations. RESULTS: We identified 51 international and Canadian CPGs and 22 guidelines developed by provincial organizations that provided relevant CCDPS recommendations. Clinical recommendations were extracted and reviewed for inclusion using the following criteria: 1) pertinence to primary prevention and screening, 2) relevance to adults ages 40-69, and 3) applicability to diverse primary care settings. Recommendations were synthesized and integrated into the BETTER toolkit alongside resources to support shared decision-making and care paths for the BETTER program. CONCLUSIONS: Comprehensive care requires the ability to address a person's overall health. An approach to identify high-quality clinical guidance to comprehensively address CCDPS is described. The process used to synthesize and harmonize implementable clinical recommendations may be useful to others wanting to integrate evidence across broad content areas to provide comprehensive care. The BETTER toolkit provides resources that clearly and succinctly present a breadth of clinical evidence that providers can use to assist with implementing CCDPS guidance in primary care.

Chronic disease prevention and screening outcomes for patients with and without financial difficulty: a secondary analysis of the BETTER WISE cluster randomised controlled trial.

OBJECTIVE: Building on Existing Tools To improvE chronic disease pRevention and screening in primary care Wellness of cancer survIvorS and patiEnts (BETTER WISE) was designed to assess the effectiveness of a cancer and chronic disease prevention and screening (CCDPS) programme. Here, we compare outcomes in participants living with and without financial difficulty. DESIGN: Secondary analysis of a cluster-randomised controlled trial. SETTING: Patients of 59 physicians from 13 clinics enrolled between September 2018 and August 2019. PARTICIPANTS: 596 of 1005 trial participants who responded to a financial difficulty screening question at enrolment. INTERVENTION: 1-hour CCDPS visit versus usual care. OUTCOME MEASURES: Eligibility for a possible 24 CCDPS actions was assessed at baseline and the primary outcome was the percentage of eligible items that were completed at 12-month follow-up. We also compared the change in response to the financial difficulty screening question between baseline and follow-up. RESULTS: 55 of 265 participants (20.7%) in the control group and 69 of 331 participants (20.8%) in the intervention group reported living with financial difficulty. The primary outcome was 29% (95% CI 26% to 33%) for intervention and 23% (95% CI 21% to 26%) for control participants without financial difficulty (p=0.01). Intervention and control participants with financial difficulty scored 28% (95% CI 24% to 32%) and 32% (95% CI 27% to 38%), respectively (p=0.14). In participants who responded to the financial difficulty question at both time points (n=302), there was a net decrease in the percentage of participants who reported financial difficulty between baseline (21%) and follow-up (12%, p<0.001) which was similar in the control and intervention groups. The response rate to this question was only 51% at follow-up. CONCLUSION: The BETTER intervention improved uptake of CCDPS manoeuvres in participants without financial difficulty, but not in those living with financial difficulty. Improving CCDPS for people living with financial difficulty may require a different clinical approach or that social determinants be addressed concurrently with clinical and lifestyle needs or both. TRIAL REGISTRATION NUMBER: ISRCTN21333761.

EORTC-SPECTA Arcagen study, comprehensive genomic profiling and treatment adaptation of rare thoracic cancers.

Arcagen (NCT02834884) is a European prospective study aiming at defining the molecular landscape of rare cancers for treatment guidance. We present data from the cohort of rare thoracic tumors. Patients with advanced pleural mesothelioma (PM) or thymic epithelial tumors (TET) underwent genomic profiling with large targeted assay [>300 genes, tumor mutational burden (TMB), microsatellite instability (MSI) status] on formalin-fixed paraffin-embedded (FFPE) or plasma samples. EORTC molecular tumor board (MTB) advised for biomarker-guided treatments. 102 patients recruited from 8 countries between July 2019 and May 2022 were evaluable: 56 with PM, 46 with TET (23 thymomas, 23 thymic carcinomas). Molecular profiling was performed on 70 FFPE samples (42 PM, 28 TET), and 32 cases on ctDNA (14 PM, 18 TET), within a median turnaround time of 8 days from sample reception. We detected relevant molecular alterations in 66 out of 102 patients (65%; 79% PM, 48% TET), 51 of 70 FFPE samples (73%; 90% PM, 46% TET), and 15 of 32 plasma samples (47%; 43% PM, 50% TET). The most frequently altered genes were CDKN2A/B, BAP1, MTAP in PM and TP53, CDKN2A/B, SETD2 in TET. The TMB was low (mean 3.2 Muts/MB), 2 PM had MSI-high status. MTB advised molecular-guided treatment options in 32 situations, for 17 PM and 15 TET patients (75% clinical trial option, 22% off-label drug or compassionate use, 3% early access program). Molecular testing and MTB discussion were feasible for patients with rare thoracic cancers and allowed the broadening of treatment options for 30% of the cases.

Nutraceutical Potential of Grape (Vitis vinifera L.) Seed Oil in Oxidative Stress, Inflammation, Obesity and Metabolic Alterations.

Vitis vinifera L. (grapevine) is a perennial plant of the Vitaceae family that is widely used to produce grapes and wines. Grape seed oil is rich in fatty acids such as linoleic acid (65-75%), vitamin E (50 mg), and phytosterols in addition to phenolic compounds, such as catechins (414 mg), epicatechins (130.4 mg), and gallic acid (77 µg), shows promise as a nutritional compound and is outstanding as a therapeutic substance with active properties for health, detected mainly by in vitro studies, as well as some in vivo studies. The benefits of consuming this oil include modulating the expression of antioxidant enzymes, anti-atherosclerotic and anti-inflammatory effects, and protection against oxidative cell damage and some types of cancer. However, experimental findings confirm that therapeutic functions remain scarce; thus, more studies are needed to determine the mechanisms of action involved in the indicated therapeutic qualities.

O-Linked GlcNAcylation mediates the inhibition of proximal tubule (Na++K+)ATPase activity in the early stage of diabetes mellitus.

BACKGROUND: Diabetic kidney disease (DKD) is a severe complication of diabetes mellitus (DM). It has been proposed that modifications in the function of proximal tubule epithelial cells (PTECs) precede glomerular damage during the onset of DKD. This study aimed to identify modifications in renal sodium handling in the early stage of DM and its molecular mechanism. METHODS: Streptozotocin (STZ)-induced diabetic BALB/c mice (STZ group) and LLC-PK1 cells, a model of PTECs, were used. All parameters were assessed in the 4th week after an initial injection of STZ. RESULTS: Early stage of DKD was characterized by hyperfiltration and PTEC dysfunction. STZ group exhibited increased urinary sodium excretion due to impairment of tubular sodium reabsorption. This was correlated to a decrease in cortical (Na++K+)ATPase (NKA) α1 subunit expression and enzyme activity and an increase in O-GlcNAcylation. RNAseq analysis of patients with DKD revealed an increase in expression of the glutamine-fructose aminotransferase (GFAT) gene, a rate-limiting step of hexosamine biosynthetic pathway, and a decrease in NKA expression. Incubation of LLC-PK1 cells with 10 µM thiamet G, an inhibitor of O-GlcNAcase, reduced the expression and activity of NKA and increased O-GlcNAcylation. Furthermore, 6-diazo-5-oxo-L-norleucine (DON), a GFAT inhibitor, or dapagliflozin, an SGLT2 inhibitor, avoided the inhibitory effect of HG on expression and activity of NKA associated with the decrease in O-GlcNAcylation. CONCLUSION: Our results show that the impairment of tubular sodium reabsorption, in the early stage of DM, is due to SGLT2-mediated HG influx in PTECs, increase in O-GlcNAcylation and reduction in NKA expression and activity.

Results from the BETTER WISE trial: a pragmatic cluster two arm parallel randomized controlled trial for primary prevention and screening in primary care during the COVID-19 pandemic.

BACKGROUND: Cancer and chronic diseases are a major cost to the healthcare system and multidisciplinary models with access to prevention and screening resources have demonstrated improvements in chronic disease management and prevention. Research demonstrated that a trained Prevention Practitioner (PP) in multidisciplinary team settings can improve achievement of patient level prevention and screening actions seven months after the intervention. METHODS: We tested the effectiveness of the PP intervention in a pragmatic two-arm cluster randomized controlled trial. Patients aged 40-65 were randomized at the physician level to an intervention group or to a wait-list control group. The intervention consisted of a patient visit with a PP. The PP received training in prevention and screening and use of the BETTER WISE tool kit. The effectiveness of the intervention was assessed using a composite outcome of the proportion of the eligible prevention and screening actions achieved between intervention and control groups at 12-months. RESULTS: Fifty-nine physicians were recruited in Alberta, Ontario, and Newfoundland and Labrador. Of the 1,005 patients enrolled, 733 (72.9%) completed the 12-month analysis. The COVID-19 pandemic occurred during the study time frame at which time nonessential prevention and screening services were not available and in-person visits with the PP were not allowed. Many patients and sites did not receive the intervention as planned. The mean composite score was not significantly higher in patients receiving the PP intervention as compared to the control group. To understand the impact of COVID on the project, we also considered a subset of patients who had received the intervention and who attended the 12-month follow-up visit before COVID-19. This assessment demonstrated the effectiveness of the BETTER visits, similar to the findings in previous BETTER studies. CONCLUSIONS: We did not observe an improvement in cancer and chronic disease prevention and screening (CCDPS) outcomes at 12 months after a BETTER WISE prevention visit: due to the COVID-19 pandemic, the study was not implemented as planned. Though benefits were described in those who received the intervention before COVID-19, the sample size was too small to make conclusions. This study may be a harbinger of a substantial decrease and delay in CCDPS activities under COVID restrictions. TRIAL REGISTRATION: ISRCTN21333761. Registered on 19/12/2016. http://www.isrctn.com/ISRCTN21333761 .

Facilitators and Barriers to the Implementation of BETTER WISE, a Chronic Disease and Prevention Intervention in Canada: A Qualitative Study.

The aim of the BETTER WISE intervention is to address cancer and chronic disease prevention and screening (CCDPS) and lifestyle risks in patients aged 40-65. The purpose of this qualitative study is to better understand facilitators and barriers to the implementation of the intervention. Patients were invited for a 1-h visit with a prevention practitioner (PP), a member of a primary care team, with specific skills in prevention, screening, and cancer survivorship. We collected and analyzed data from 48 key informant interviews and 17 focus groups conducted with 132 primary care providers and from 585 patient feedback forms. We analyzed all qualitative data using a constant comparative method informed by grounded theory and then employed the Consolidated Framework for Implementation Research (CFIR) in a second round of coding. The following key elements were identified: (1) Intervention characteristics-relative advantage and adaptability; (2) Outer setting-PPs compensating for increased patient needs and decreased resources; (3) Characteristics of individuals-PPs (patients and physicians described PPs as compassionate, knowledgeable, and helpful); (4) Inner setting-network and communication (collaboration and support in teams or lack thereof); and (5) Process-executing the implementation (pandemic-related issues hindered execution, but PPs adapted to challenges). This study identified key elements that facilitated or hindered the implementation of BETTER WISE. Despite the interruption caused by the COVID-19 pandemic, the BETTER WISE intervention continued, driven by the PPs and their strong relationships with their patients, other primary care providers, and the BETTER WISE team.

Opportunities to improve quality of care for cancer survivors in primary care: findings from the BETTER WISE study.

PURPOSE: The BETTER WISE (Building on Existing Tools to Improve Chronic Disease Prevention and Screening in Primary Care for Wellness of Cancer Survivors and Patients) intervention is an evidence-based approach to prevention and screening for cancers and chronic diseases in primary care that also includes comprehensive follow-up for breast, prostate and colorectal cancer survivors. We describe the process of harmonizing cancer survivorship guidelines to create a BETTER WISE cancer surveillance algorithm and describe both the quantitative and qualitative findings for BETTER WISE participants who were breast, prostate or colorectal cancer survivors. We describe the results in the context of the COVID-19 pandemic. METHODS: We reviewed high-quality survivorship guidelines to create a cancer surveillance algorithm. We conducted a cluster randomized trial in three Canadian provinces with two composite index outcome measured 12 months after baseline, and also collected qualitative feedback on the intervention. RESULTS: There were 80 cancer survivors for whom we had baseline and follow-up data. Differences between the composite indices in the two study arms were not statistically significant, although a post hoc analysis suggested the COVID-19 pandemic was a key factor in these results. Qualitative finding suggested that participants and stakeholders generally viewed BETTER WISE positively and emphasized the effects of the pandemic. CONCLUSIONS AND IMPLICATIONS FOR CANCER SURVIVORS: BETTER WISE shows promise for providing an evidence-based, patient-centred, comprehensive approach to prevention, screening and cancer surveillance for cancer survivors in the primary care setting. TRIAL REGISTRATION: ISRCTN21333761. Registered on December 19, 2016, http://www.isrctn.com/ISRCTN21333761 .

Magnetic-Based Human Tissue 3D Cell Culture: A Systematic Review.

Cell-based assays, conducted on monolayer (2D) cultured cells, are an unquestionably valuable tool for biomedical research. However, three-dimensional (3D) cell culture models have gained relevance over the last few years due to the advantages of better mimicking the microenvironment and tissue microarchitecture in vivo. Recent magnetic-based 3D (m3D) cell culture systems can be used for this purpose. These systems are based on exposing magnetized cells to magnetic fields by levitation, bioprinting, or ring formation to promote cell aggregation into 3D structures. However, the successful development of these structures is dependent on several methodological characteristics and can be applied to mimic different human tissues. Thus, a systematic review was performed using Medline (via Pubmed), Scopus, and Web of Science (until February 2022) databases to aggregate studies using m3D culture in which human tissues were mimicked. The search generated 3784 records, of which 25 met the inclusion criteria. The usability of these m3D systems for the development of homotypic or heterotypic spheroids with or without scaffolds was explored in these studies. We also explore methodological differences specifically related to the magnetic method. Generally, the development of m3D cultures has been increasing, with bioprinting and levitation systems being the most used to generate homotypic or heterotypic cultures, mainly to mimic the physiology of human tissues, but also to perform therapeutic screening. This systematic review showed that there are areas of research where the application of this method remains barely explored, such as cancer research.

Cytoreductive Surgical Treatment of Pleural Mesothelioma in a Porcine Model Using Magnetic-Resonance-Guided Focused Ultrasound Surgery (MRgFUS) and Radiofrequency Ablation (RFA).

A combination of surgery and chemotherapy is the most effective treatment available for Malignant Pleural Mesothelioma (MPM). However, both cause significant collateral damage and cannot eliminate residual microscopic disease. This investigation aimed to compare and determine the feasibility of utilizing Radiofrequency Ablation (RFA) and Magnetic-Resonance-guided Focused Ultrasound Surgery (MRgFUS) as alternative treatments for MPM. A large animal tumor model was developed in 13 Yorkshire female pigs using the MSTO211H cell line. Two pigs were initially used to determine the cyclosporine dose required for immunosuppression and tumor development. Subsequently, 11 other pigs underwent tumor development. Of these 11, 2 died during cell inoculation. Small tumor masses and adhesions were present in the other 9, indicating mesothelioma development. Five pigs then received RFA treatment, and 4 pigs received MRgFUS treatment. Tumor model development and effect of the two treatments were examined using MRI and by necropsy. RFA and MRgFUS both successfully ablated approximately the same sized area in the same treatment time. This study demonstrates that RFA and MRgFUS are feasible for tumor debulking, and while MRgFUS requires more pretreatment planning compared to RFA, MRgFUS is a completely noninvasive procedure.

Disseminated juvenile xanthogranulomas with ocular involvement: A case report and literature review.

Cutaneous juvenile xanthogranuloma is an uncommon disorder usually arising during infancy. Systemic involvement of juvenile xanthogranuloma remains rare, and there are no published guidelines to date on screening extracutaneous manifestations in these patients. Ocular involvement is the most common extracutaneous manifestation of juvenile xanthogranuloma. We present the case of an infant with disseminated juvenile xanthogranulomas and associated ocular involvement and present a review of literature, focusing on identifying risk factors for ocular and systemic involvement in disseminated cases.

Post-Mortem Diagnosis of Pediatric Dengue Using Minimally Invasive Autopsy during the COVID-19 Pandemic in Brazil.

We report the first pediatric disease in which the use of minimally invasive autopsy (MIA) confirmed severe dengue as the cause of death. During the COVID-19 pandemic, a previously healthy 10-year-old girl living in north-eastern Brazil presented fever, headache, diffuse abdominal pain, diarrhoea, and vomiting. On the fourth day, the clinical symptoms worsened and the patient died. An MIA was performed, and cores of brain, lungs, heart, liver, kidneys, and spleen were collected with 14G biopsy needles. Microscopic examination showed diffuse oedema and congestion, pulmonary intra-alveolar haemorrhage, small foci of midzonal necrosis in the liver, and tubular cell necrosis in the kidneys. Dengue virus RNA and NS1 antigen were detected in blood and cerebrospinal fluid samples. Clinical, pathological, and laboratory findings, in combination with the absence of other lesions and microorganisms, allowed concluding that the patient had died from complications of severe dengue.

Characterization of Buriti (Mauritia flexuosa) Pulp Oil and the Effect of Its Supplementation in an In Vivo Experimental Model.

Mauritia flexuosa (Buriti) pulp oil contains bioactive substances and lipids that are protective against cardiovascular and inflammatory diseases. We performed physical and chemical analyses to verify its quality and stability. Buriti oil was stable according to the Rancimat test, presenting an induction period of 6.6 h. We evaluated the effect of supplementation with crude buriti oil and olive oil on metabolic parameters in 108 Swiss mice for 90 days. We investigated six groups: extra virgin olive oil (EVOO) 1 and 2 (1000 and 2000 mg/kg), buriti oil (BO) 1 and 2 (1000 and 2000 mg/kg), synergic (S) (BO1 + EVOO1), and control (water dose 1000 mg/kg). The animals were euthanized to examine their blood, livers, and fats. The supplementation did not interfere with food consumption, weight gain, and histological alterations in the liver. Group S showed the strongest relationship with the fractions HDL-c and non-HDL-c, indicating a possible cardioprotective effect. Moreover, we observed significantly higher IL-6 levels in the control, EVOO2, and BO1 groups than in the EVOO1 group. Resistin was also significantly higher for the synergic treatment than for the control. We conclude that BO combined with EVOO could be an excellent food supplement for human consumption.

The Ototoxicity of Chloroquine and Hydroxychloroquine: A Systematic Review

Abstract Introduction Chloroquine and hydroxychloroquine are antimalarial drugs widely used in the treatment of rheumatic diseases. With the global pandemic caused by the new coronavirus, there was an increase in the prescription of these drugs, which led to a major concern regarding their ototoxic effects. Objectives The objective of the present study was to assess existing scientific evidence about the toxic effects of chloroquine and hydroxychloroquine on the peripheral and/or central auditory system. Data Synthesis A systematic literature review was performed by searching the PubMed (Medline), Scopus, Web of Science, LILACS, and SciELO electronic databases, in a search of articles that fullfiled the predefined inclusion and exclusion criteria. The review was conducted in three phases and, in all of them, analyses were performed by two independent researchers. Disagreements were discussed with a third researcher until a consensus was reached. A total of 437 articles were found and 8 were included in this review. Seven of the included studies reported hearing loss in their samples and presented a diagnostic hypothesis of ototoxicity induced by chloroquine or hydroxychloroquine. The most common type of hearing loss was sensorineural, with varying laterality and degrees of severity. The most frequently used audiological test was pure tone audiometry, and only two studies assessed brainstem evoked responses. Conclusion The scientific evidence compiled in this research showed that chloroquine and hydroxychloroquine have an ototoxic effect in the peripheral auditory system. These drugs can cause cochlear damage, including changes in the stria vascularis and lesions in sensory hair cells.

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease. It is caused by mutations in the NOTCH3 gene, which encodes a membranebound receptor protein with three main distinct functional domains. Thus far, several different NOTCH3 mutations, most of them cysteine altering variants, have been described and although they tend to cluster in certain exons, their distribution varies in different geographically populations. Therefore, in this study, we describe the mutation analysis of NOTCH3 gene in 24 Portuguese families with small vessel disease suspected to have CADASIL from the central region of Portugal. The genetic analysis revealed 15 different heterozygous variants, eight pathogenic cysteine altering variants, six cysteine sparing variants and one nonsense variant, located mainly in the exons 4, 8 and 11. Thus, in our population, the genetic testing should initially be focused on these exons. In addition, the genetic findings broaden the mutational and clinical spectrum of CADASIL related phenotype and provide additional evidences for genetic counseling and clinical management.

Analysis of congenital syphilis notifications in a university hospital in the city of Niterói from 2016 to 2020 / Análise das notificações de sífilis congênita em um hospital universitário na cidade de Niterói de 2016 a 2020

Introduction: The elimination of congenital syphilis is a challenge in the field of public health worldwide. The failure of previous global plans forces authorities to rethink detection and control strategies, with compulsory notification being an important tool for obtaining data. Objective: To analyze the notifications of congenital syphilis made by Departamento de Vigilância Epidemiológica do Hospital Universitário Antônio Pedro (Department of Epidemiological Surveillance at Antônio Pedro University Hospital), between January 2016 and August 2020. Methods: Retrospective, descriptive, and quantitative study of data from congenital syphilis notification forms in Hospital Universitário Antônio Pedro from January 2016 to August 2020. In the descriptive analysis of categorical variables, absolute and relative frequencies were used; for numerical measures, central tendency and dispersion measures were used. Spearman correlation, Mann-Whitney test and Fisher's exact test were performed in the R software (version 4.0.3). Hills' criteria for causality were also considered. Results: Of the 67 forms examined, two were excluded due to duplication, and 48 variables were analyzed. No form was completely filled out, and some data were missing on more than 90% of them. According to maternal data, patients were mostly from Niterói (60%), had an average age of 23.09 years, and were brown (32.31%), while 13.85% did not finish 5th to 8th grade and 80% had prenatal care, but less than half had appropriate treatment indicated. As for the children: 55.38% were female, 40% brown, with an average age of 90.98 days. The great majority (72.31%) of them were born at Hospital Universitário Antônio Pedro, and not being born at this hospital was significant when it came to being asymptomatic (69.23%, p=0.001); the most frequent symptom was jaundice. Conclusion: Improvement in the follow-up and investigation of the reported cases can significantly decrease this high percentage of missing information, improving the quality of the data. The vast majority of patients underwent prenatal care, and therefore, they were avoidable cases, since the maternal diagnosis in the peripartum period occurs when the chance for vertical transmission has already occurred and caused consequences for the child's life.

Introdução: A eliminação da sífilis congênita é um desafio para a saúde pública mundial. A falha de planos de controle anteriores força as autoridades a repensar as estratégias, sendo a notificação compulsória ferramenta importante na obtenção de dados. Objetivo: Analisar as notificações de sífilis congênita pelo Departamento de Vigilância Epidemiológica do Hospital Universitário Antônio Pedro no período entre janeiro de 2016 e agosto de 2020. Métodos: Estudo retrospectivo, descritivo e quantitativo. Na análise descritiva das variáveis categóricas, foram utilizadas as frequências absolutas e relativas; já para numéricas, foram utilizadas as medidas tendência central e dispersão. Foram feitos correlação de Spearman, teste de Mann-Whitney e teste exato de Fisher com o software R (versão 4.0.3). Foram considerados os critérios de Hills para causalidade. Resultados: Das 67 fichas examinadas, duas foram excluídas por duplicidade. Foram analisadas 48 variáveis. Nenhuma ficha estava completamente preenchida, e alguns dados estavam ausentes em mais de 90%. De acordo com os dados maternos, 60% das pacientes são de Niterói, com idade de 23,09 anos em média, pardas (32,31%), 13,85% não terminou os estudos da 5ª a 8ª série e 80% fez pré-natal, porém menos da metade teve tratamento adequado indicado. Quanto às crianças, 55,38% eram do sexo feminino, 40% pardas, com idade média de 90,98 dias; 72,31% nasceram no Hospital Universitário Antônio Pedro. Quanto às que não nasceram nesse hospital, o local de nascimento foi significativo para que fossem assintomáticas (69,23%, p=0,001); já o sintoma mais comum foi a icterícia. Conclusão: A melhora do seguimento e investigação dos casos notificados pode diminuir significativamente essa alta porcentagem de informações ausentes, melhorando a qualidade da informação. A maioria das gestantes fez acompanhamento pré-natal e, portanto, trata-se de caso evitável, já que o diagnóstico materno no período periparto acontece quando a chance de transmissão vertical já ocorreu e já há consequências para a criança.

Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy characterized by systemic vasculitis, early-onset stroke and livedo racemosa. We report a family cohort of 3 patients with ADA2 compound heterozygous mutation p.[Thr360Ala] and [Gly383Ser]. Two of them had progressive involvement of the peripheral nervous system in the fourth decade, both after stroke. In one patient, clinical and neurophysiological studies showed progression of mononeuritis multiplex to chronic axonal sensorimotor polyneuropathy, nerve biopsy had features of small vessel vasculitic neuropathy, and muscle biopsy disclosed neurogenic atrophy with reinnervation. The second patient presented with progressive sensory symptoms of the lower limbs and chronic axonal sensorimotor polyneuropathy in nerve conduction studies. These two patients had absent plasma ADA2 activity. The third patient had no neurological affection despite low, but not absent, plasma ADA2 activity. Patients were started on a tumor necrosis factor (TNF) inhibitor, which has presumed benefits for the vasculitic phenotype of DADA2.

Awareness towards an increasing concern during pregnancy: maternal and perinatal outcomes of women with cancer.

BACKGROUND: Increased incidence of cancer in women of childbearing age and improvements on treatment for preserving fertility have led to higher frequency of pregnancy during or after cancer treatment. OBJECTIVE: This study aimed to describe maternal and perinatal outcomes associated with cancer and pregnancy and, as a secondary analysis, to compare outcomes of women with active disease and with remission before pregnancy. STUDY DESIGN: We performed a retrospective study of women followed up at a referral center owing to a history of cancer or cancer diagnosed during pregnancy. Data on sociodemographic information, obstetrical history, types of neoplasia, treatments offered, antenatal follow-up, and maternal and perinatal outcomes were retrieved from medical chart review. A descriptive analysis was performed and a comparison among women with active and nonactive disease was performed using Student t-test and chi-square test. RESULTS: A total of 66 women were included in a 5-year period. The most frequent types of cancer were breast (33%), hematologic (21%), brain (11%), cervical (9%), and ovarian (5%) cancers. There were 39 participants (59%) who had active disease and 26 who received oncological treatment during pregnancy, and 23 (34.8%) had a vaginal delivery. There were 4 women who needed intensive care unit admission postpartum. A total of 18 (29.5%) deliveries were at term, most newborns (59%) with adequate weight for gestational age and only 1 had Apgar score lower than 7 in the fifth minute of life. There was 1 stillbirth. The active invasive cancer during pregnancy group showed a higher rate of preterm birth and lower birthweight with significant statistical difference (P=.03 and P<.01, respectively). CONCLUSION: Breast cancer was the most frequent type of cancer in our cohort. Most deliveries were preterm, with adequate birthweight. Women with active cancer are more likely to have a preterm childbirth and newborns with lower birthweight.