Syringomatous tumor of the nipple: a case report.

Syringomatous tumor of the nipple is a benign, locally infiltrative tumor. There are reports in the literature of tumor recurrence in cases of incomplete excision. Clinical and mammographic findings in syringomatous tumors are like those of breast carcinoma and the pathologist has a fundamental role in final tumor diagnosis. Therefore, the aim of this study was to report a case of syringoma located in the areolar region. A 33-year-old woman reported that she had noticed a nodule in her left areolar region 4 years previously (February 2019). A breast ultrasound was performed, detecting intraparenchymatous breast cysts. Surgical resection of the nodule was indicated although it was not performed. Two years later, in August 2021, the patient underwent a mastopexy with prosthesis inclusion. Histopathology study of the surgical specimen revealed a syringomatous tumor with positive margins. Thirteen (13) months after diagnosis (September 3, 2021 - October 16, 2022), the patient is doing well and receives clinical follow-up.

NADPH oxidase 4-derived hydrogen peroxide counterbalances testosterone-induced endothelial dysfunction and migration.

High levels of testosterone (Testo) are associated with cardiovascular risk by increasing reactive oxygen species (ROS) formation. NADPH oxidases (NOX) are the major source of ROS in the vasculature of cardiovascular diseases. NOX4 is a unique isotype, which produces hydrogen peroxide (H2O2), and its participation in cardiovascular biology is controversial. So far, it is unclear whether NOX4 protects from Testo-induced endothelial injury. Thus, we hypothesized that supraphysiological levels of Testo induce endothelial NOX4 expression to attenuate endothelial injury. Human mesenteric vascular endothelial cells (HMECs) and human umbilical vein endothelial cells (HUVEC) were treated with Testo (10-7 M) with or without a NOX4 inhibitor [GLX351322 (10-4 M)] or NOX4 siRNA. In vivo, 10-wk-old C57Bl/6J male mice were treated with Testo (10 mg/kg) for 30 days to study endothelial function. Testo increased mRNA and protein levels of NOX4 in HMECs and HUVECs. Testo increased superoxide anion (O2-) and H2O2 production, which were abolished by NOX1 and NOX4 inhibition, respectively. Testo also attenuated bradykinin-induced NO production, which was further impaired by NOX4 inhibition. In vivo, Testo decreased H2O2 production in aortic segments and triggered endothelial dysfunction [decreased relaxation to acetylcholine (ACh)], which was further impaired by GLX351322 and by a superoxide dismutase and catalase mimetic (EUK134). Finally, Testo led to a dysregulated endothelial cell migration, which was exacerbated by GLX351322. These data indicate that supraphysiological levels of Testo increase the endothelial expression and activity of NOX4 to counterbalance the deleterious effects caused by Testo in endothelial function.NEW & NOTEWORTHY By inducing ROS formation, high levels of testosterone play a major role in the pathogenesis of cardiovascular disease. NOXs are the major sources of ROS in the vasculature of cardiovascular diseases. Herein, we describe a novel compensatory mechanism by showing that NOX4 is a protective oxidant enzyme and counterbalances the deleterious effects of testosterone in endothelial cells by modulating hydrogen peroxide formation.

Granulosa cell tumor of the ovary: a series of 6 cases.

Granulosa cell tumor (GCT) is a rare ovarian malignancy that represents only 2-3% of all cases. There are two subtypes of GCT: juvenile/JGCT (5% of cases) and adult/AGCT (95% of cases). This study aimed to describe a series of 6 GCT cases. The 6 study patients were managed from June 2011 to November 2022 in a private oncology clinic located in Teresina (PI), Brazil. At diagnosis, the mean patient age was 47 years, and symptoms in 5 patients (83%) were pelvic pain and/or increased abdominal volume. The majority of the patients (N=4/67%) had no comorbidities or findings related to GCT on physical examination. The mean tumor size was 11 cm. Five (83%) tumors were stage Ia and one tumor (17%) was stage III. Regarding tumor subtype, 5 (83%) were AGCT and 1 (17%) was JGCT. Surgical treatment consisted of unilateral salpingo-ophorectomy in 2 patients (33%), total hysterectomy and bilateral salpingo-ophorectomy in 3 patients (50%), and cytoreduction (suboptimal) in 1 patient (17%). After a mean follow-up period of 62.7 months, 5 patients (83%) are still alive and free of disease. One (17%) died from disease progression after 126 months. In the current study, disease-free overall survival was 83%, in a mean follow-up period of 62.7 months.

Low vaccine coverage and varicella outbreaks in Brazil - 2019-2022.

The persistence of varicella outbreaks in Brazil has underscored the high concern with the low vaccine coverage in the last 4 years. Using publicly available data from the Brazilian Health System (SUS), this study analyzed varicella vaccine coverage and incidence trends from 2019 to 2022 in Brazilian States. Vaccine coverage decreased nationally in 2020, possibly influenced by the COVID-19 pandemic's initial phase. In Bahia State, we have the persistence of varicella with an incidence rate of 3.0 cases per 100,000 inhabitants (higher incidence compared to other States) in 2023. Under 15 months children and young children (4-6 Years old) faced the highest risk, urging the importance of vaccination. Despite a monovalent varicella vaccine being available through Brazil's National Immunization Program (NIP), Bahia fell short of achieving the ≥95 % disease control target for coverage. The study highlight the importance of vaccines to prevent some infectious diseases, as varicella, in poor tropical regions. Addressing vaccine hesitancy and misinformation, and augmenting awareness campaigns, are important to achieve and sustain high vaccine coverage over 80% as WHO guidelines to obtain a safe rate of protection for Brazilian population (Brazil's national immunization program has a target of 95% coverage).

Dereplication of calystegines in food plants and wild Solanum Brazilian fruits.

Calystegines are potent glycosidase inhibitors with therapeutic potential and are constituents of food and feed with potential toxic effects. This study aims to target calystegines and other nitrogenous substances in food plants. Hydroalcoholic extracts from Solanum tuberosum, Ipomoea batatas, S. lycocarpum, and fruit from S. lycopersicum, S. aethiopicum, S. paniculatum, S. crinitum, and S. acanthodes were analyzed by liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) using an acidic HILIC column. The dereplication approach included data processing using MZMine2, FBMN-GNPS, and structure elucidation and interpretation of the organized data. The calystegines A3, A5, B2, and C1 were identified, and several potential new calystegine analogues: three may correspond to new calystegines of the A-group, one glycosyl derivative of calystegine A3, and two glycosyl derivatives of the B-group. These findings help to direct the search for new calystegines. In addition, the dereplication approach enabled the annotation of 22 other nitrogen compounds.

Alpha 1-acid glycoprotein is upregulated in severe COVID-19 patients and decreases neutrophil NETs in SARS-CoV-2 infection.

Orosomucoid, or alpha-1 acid glycoprotein (AGP), is a major acute-phase protein expressed in response to systemic injury and inflammation. AGP has been described as an inhibitor of neutrophil migration on sepsis, particularly its immunomodulation effects. AGP's biological functions in coronavirus disease 2019 (COVID-19) are not understood. We sought to investigate the role of AGP in severe COVID-19 infection patients and neutrophils infected with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Epidemiological data, AGP levels, and other laboratory parameters were measured in blood samples from 56 subjects hospitalized in the ICU with SARS-CoV-2 infection. To evaluate the role of AGP in NETosis in neutrophils, blood samples from health patients were collected, and neutrophils were separated and infected with SARS-CoV-2. Those neutrophils were treated with AGP or vehicle, and NETosis was analyzed by flow cytometry. AGP was upregulated in severe COVID-19 patients (p<0.05). AGP level was positively correlated with IL-6 and C-reactive protein (respectively, p=0.005, p=0.002) and negatively correlated with lactate (p=0.004). AGP treatment downregulated early and late NETosis (respectively, 35.7% and 43.5%) in neutrophils infected with SARS-CoV-2 and up-regulated IL-6 supernatant culture expression (p<0.0001). Our data showed increased AGP in COVID-19 infection and contributed to NETosis regulation and increased IL-6 production, possibly related to the Cytokine storm in COVID-19.

Disease Progression and Death From Cervical Melanoma in a Patient Undergoing Nivolumab Therapy: A Case Report.

Melanoma of the uterine cervix is an exceedingly rare malignancy that has high recurrence rates and distant metastases. In general, surgery is the preferred treatment for this tumor, and depending on stage additional consideration to radiotherapy and chemotherapy. Immunotherapy has emerged as a new treatment option in this context. The aim of this study was to report a case of melanoma of the uterine cervix that progressed rapidly to death while the patient was undergoing immunotherapy with nivolumab. A 39-year-old woman presented with an amelanotic ulcerated lesion of the uterine cervix in February of 2023. Histopathology study demonstrated melanoma of the uterine cervix. Treatment was initiated with surgery. Two months after cancer diagnosis, the tumor board decided to initiate adjuvant treatment with nivolumab. After four cycles of immunotherapy, progression of the disease occurred with death of the patient within six months of follow-up. The rare case presented illustrates the aggressive natural history of the tumor and possible use of immunotherapy in this context, despite current evidence that response to nivolumab is less effective in cervical melanoma than in skin melanoma.

Association of sleep timing and sleep variability with health-related outcomes in a sample of Brazilian adolescents.

OBJECTIVES: This cross-sectional study aimed to examine the relationships of sleep timing and sleep variability with depressive symptoms, health-related quality of life (HRQoL), daytime sleepiness, and body mass index (BMI) in adolescents. METHODS: Adolescents from three schools (n = 571, 56% female, 16.3 ± 1.0 years) had their sleep examined by actigraphy, their anthropometrics assessed, and answered a survey. Sleep timing was examined by combining groups of median-dichotomized onset and wakeup times (early onset and early wakeup; early onset and late wakeup; later onset and early wakeup; later onset and later wakeup); sleep variability was based on within-participant standard deviations of onset and wakeup; and sleep duration as the length of time between onset and wakeup. The sleep variables were separated for weekdays and weekend. Mixed linear models were fitted to compare each sleep variable with health-related outcomes. RESULTS: Higher values of daytime sleepiness were observed in adolescents from the late-early and late-late timing group during the week. Greater sleep midpoint and wakeup variability on weekdays were related with higher daytime sleepiness. Adolescents in the late-late and early-late groups showed higher daytime sleepiness. Increased of all sleep variability variables was related with greater daytime sleepiness. Higher depressive symptoms scores were found among adolescents in the late-early subgroup and with the increase of sleep variability. Participants with greater sleep onset variability and sleep midpoint variability reported less HRQoL. CONCLUSIONS: Not only sleep duration, but sleep timing and variability also relate to health outcomes, and should be addressed by policies and interventions among adolescents.

Melatonin prevents overproduction of reactive oxygen species and vascular dysfunction induced by cyclophosphamide.

AIMS: Overproduction of reactive oxygen species (ROS) is a pathologic hallmark of cyclophosphamide toxicity. For this reason, antioxidant compounds emerge as promising tools for preventing tissue damage induced by cyclophosphamide. We hypothesized that melatonin would display cytoprotective action in the vasculature by preventing cyclophosphamide-induced oxidative stress. MATERIALS AND METHODS: Male C57BL/6 mice (22-25 g) were injected with a single dose of cyclophosphamide (300 mg/kg; i.p.). Mice were pretreated or not with melatonin (10 mg/kg/day, i.p.), given during 4 days before cyclophosphamide injection. Functional (vascular reactivity) and oxidative/inflammatory patterns were evaluated at 24 h in resistance arteries. The antioxidant action of melatonin was assessed in vitro in cultured vascular smooth muscle cells (VSMCs) of mesenteric arteries. KEY FINDINGS: Cyclophosphamide induced ROS generation in both mesenteric arterial bed (MAB) and cultured VSMCs, and this was normalized by melatonin. Cyclophosphamide-induced ROS generation and lipoperoxidation in the bladder and kidney was also prevented by melatonin. Increased levels of tumor necrosis factor (TNF)-α and interleukin (IL)-6 were detected in the MAB of cyclophosphamide-treated mice, all of which were prevented by melatonin. Functional assays using second-order mesenteric arteries of cyclophosphamide-treated mice revealed a decrease in vascular contractility. Melatonin prevented vascular hypocontractility in the cyclophosphamide group. Melatonin partially prevented the decrease in myeloperoxidase (MPO) and N-acetyl-beta-D-glucosaminidase (NAG) activities in the MAB of the cyclophosphamide group. SIGNIFICANCE: Melatonin may constitute a novel and promising therapeutic approach for management of the toxic effects induced by cyclophosphamide in the vasculature.

Impact of Pathologic Complete Response on the Prognosis of Triple-Negative Breast Cancer Patients: A Cohort Study.

Introduction Triple-negative breast cancer (TNBC) is a molecular subtype in which estrogen (ER)/progesterone receptor (PR) and human epidermal growth receptor 2 (HER2) expression does not occur. The objective of this study was to analyze the impact of pathologic complete response (pCR) after neoadjuvant chemotherapy on the prognosis of triple-negative breast cancer (TNBC) patients. Methods This cohort study was conducted in a private-sector oncology clinic located in the city of Teresina, Brazil. Medical charts of 532 breast cancer patients treated from 2007 to 2020 were analyzed. Of these patients, 83 women with TNBC were selected (10 patients were excluded from the study). Univariate and multivariate analyses (Cox regression) were performed to evaluate the impact on patient survival, comparing patients with or without pCR. A significance level of 5% was set. Overall survival (OS) and disease-free survival (DFS) curves were constructed according to the Kaplan-Meier model. Results Angiolymphatic invasion and positive sentinel lymph node were associated with a lower OS and/or DFS in TNBC (p<0.05). The 10-year OS was 78% and 49%, and the 10-year DFS was 97% and 32% in patients with or without pCR, respectively. Conclusion pCR after neoadjuvant chemotherapy was associated with improvement in OS and DFS in TNBC patients.

Induction Therapy With Cisplatin, 5-Fluorouracil, Leucovorin, and Paclitaxel in Patients With Head and Neck Cancer.

BACKGROUND/AIM: This study aimed to evaluate the toxicities and response rate of a modified TPF (docetaxel, cisplatin, and 5-fluorouracil) protocol in patients with locally advanced head and neck cancer (ECOG performance status ≤1). PATIENTS AND METHODS: Induction treatment consisted of cisplatin 25 mg/m2/day as a 90 min infusion for three consecutive days, leucovorin 20 mg/m2/day as a bolus for four consecutive days, 5-fluorouracil (5-FU) 370 mg/m2/day as a bolus for four consecutive days, and paclitaxel 60 mg/m2 as a 1-h infusion on Days 1, 8, and 15, repeated every 3-4 weeks (twelve cycles to 6 patients). RESULTS: The main toxicities were grade 1 neuropathy, mucositis, and fatigue. There were four episodes of severe toxicities (grade ≥3). There was one early death, and 2 patients were discontinued due to hematological toxicity. Other side effects included neutropenia, nausea, diarrhea, and vomiting. CONCLUSION: Induction therapy with cisplatin, 5-fluorouracil, leucovorin, and paclitaxel in head and neck cancer is not feasible because of severe toxicity.

Independent and joint associations of cardiorespiratory fitness and weight status with health-related quality of life among Brazilian adolescents.

PURPOSE: To investigate the independent and joint associations of cardiorespiratory fitness and body mass index (BMI) with five dimensions of Health-Related Quality of Life (HRQoL) in a cross-sectional sample of Brazilian adolescents. METHODS: 619 Brazilian schoolchildren answered a survey, BMI categories (healthy weight and overweight/obesity) were assessed by their weight and height, and they participated in a 20-m shuttle run test. HRQoL was measured using the KIDSCREEN-27 across five dimensions: Physical Well-Being, Psychological Well-Being, Autonomy and Parent Relation, Peers and Social Support, and School Environment. Sex, age, maternal education, physical activity level, and habitual sedentary behaviour were assessed and used as adjusting variables. Cardiorespiratory fitness was categorized in tertiles and independent and joint associations were tested using mixed-effects linear regressions. RESULTS: Higher levels of cardiorespiratory fitness were favourably associated with the physical well-being, psychological well-being, and peer and social support dimensions of HRQoL. Adolescents with overweight/obesity presented higher scores on peer and social support dimensions when compared to healthy-weight adolescents. Independent of the adolescents' BMI categories, better cardiorespiratory fitness was positively associated with physical and psychological well-being when compared with the category of overweight/obesity and low cardiorespiratory fitness. In addition, adolescents with overweight/obesity combined with intermediate cardiorespiratory fitness or high cardiorespiratory fitness had higher scores on the peer and social support dimension. CONCLUSION: Cardiorespiratory fitness is a strong correlate of HRQoL across most of the dimensions measured, while BMI was a correlate of one dimension of HRQoL. Future studies should evaluate these relationships prospectively and experimentally.

NLRP3 activation contributes to endothelin-1-induced erectile dysfunction.

In the present study, we hypothesized that endothelin (ET) receptors (ETA and ETB ) stimulation, through increased calcium and ROS formation, leads to Nucleotide Oligomerization Domain-Like Receptor Family, Pyrin Domain Containing 3 (NLRP3) activation. Intracavernosal pressure (ICP/MAP) was measured in C57BL/6 (WT) mice. Functional and immunoblotting assays were performed in corpora cavernosa (CC) strips from WT, NLRP3-/- and caspase-/- mice in the presence of ET-1 (100 nM) and vehicle, MCC950, tiron, BAPTA AM, BQ123, or BQ788. ET-1 reduced the ICP/MAP in WT mice, and MCC950 prevented the ET-1 effect. ET-1 decreased CC ACh-, sodium nitroprusside (SNP)-induced relaxation, and increased caspase-1 expression. BQ123 an ETA receptor antagonist reversed the effect. The ETB receptor antagonist BQ788 also reversed ET-1 inhibition of ACh and SNP relaxation. Additionally, tiron, BAPTA AM, and NLRP3 genetic deletion prevented the ET-1-induced loss of ACh and SNP relaxation. Moreover, BQ123 diminished CC caspase-1 expression, while BQ788 increased caspase-1 and IL-1ß levels in a concentration-dependent manner (100 nM-10 µM). Furthermore, tiron and BAPTA AM prevented ET-1-induced increase in caspase-1. In addition, BAPTA AM blocked ET-1-induced ROS generation. In conclusion, ET-1-induced erectile dysfunction depends on ETA - and ETB -mediated activation of NLRP3 in mouse CC via Ca2+ -dependent ROS generation.

Synthesis and biological evaluation of 4-hydroxy-methylpiperidinyl-N-benzyl-acylarylhydrazone hybrids designed as novel multifunctional drug candidates for Alzheimer's disease.

The search for new drug candidates against Alzheimer's disease (AD) remains a complex challenge for medicinal chemists due to its multifactorial pathogenesis and incompletely understood physiopathology. In this context, we have explored the molecular hybridization of pharmacophore structural fragments from known bioactive molecules, aiming to obtain a novel molecular architecture in new chemical entities capable of concomitantly interacting with multiple targets in a so-called multi-target directed ligands (MTDLs) approach. This work describes the synthesis of 4-hydroxymethyl)piperidine-N-benzyl-acyl-hydrazone derivatives 5a-l, designed as novel MTDLs, showing improved multifunctional properties compared to the previously reported parent series of N-benzyl-(3-hydroxy)piperidine-acyl-hydrazone derivatives 4. The new improved derivatives were studied in silico, regarding their mode of interaction with AChE enzyme, and in vitro, for evaluation of their effects on the selective inhibition of cholinesterases, cellular antioxidant, and neuroprotective activities as their cytotoxicity in human neuroblastoma (SH-SY5Y) cells. Overall, compound PQM-181 (5 k) showed the best balanced selective and non-competitive inhibition of AChE (IC50 = 5.9 µM, SI > 5.1), with an additional antioxidant activity (IC50 = 7.45 µM) against neuronal t-BOOH-induced oxidative stress and neuroprotective ability against neurotoxicity elicited by both t-BOOH and OAß1-42, and a moderate ability to interfere in Aß1-42 aggregates, with low cytotoxicity and good predictive druggability properties, suggesting a multifunctional pharmacological profile suitable for further drug development against AD.

Chromatographic profile, in silico and in vivo study of the pharmacokinetic and toxicological properties of major constituent present in kefir, the kefiran.

Kefiran is a polysaccharide present in kefir grains that have been widely explored due to its potential health benefits. The objective of this work was to characterize and quantify the components present in the ethanolic extract of milk kefir grains; to study its pharmacokinetic and toxicological properties in silico and evaluate the acute toxicity of the kefiran in zebrafish. The prediction of pharmacokinetic properties was performed by QikProp software. In silico toxicity assessment was performed using the DEREK (deductive estimate of risk from existing knowledge) software. In the chromatographic, kefiran was identified as the major component. Results showed that the kefiran had low human oral absorption and intestinal absorption its due poor solubility profile; low logP value, indicating its lipophilicity and the low MDCK and Caco-2 cells permability, and unable to cross the blood-brain barrier. Kefiran did not present any structural warning for in silico toxicity. In zebrafish, the dose of 2,000 mg/kg of kefiran produced nonsignificant alterations in the analyzed organs. It can be said then that kefiran has an acceptable degree of safety for use in the development of drugs or functional foods. Further research such as in vivo testing to confirm its pharmacological potential is currently underway.

Non-invasive Brain Stimulation Can Reduce Unilateral Spatial Neglect after Stroke: ELETRON Trial.

OBJECTIVE: Rehabilitation top-down techniques based on brain stimulation present variable outcomes in unilateral spatial neglect (USN) after stroke. This study aimed to examine the effects of physical therapy after anodal and cathodal transcranial direct current stimulation (A-tDCS and C-tDCS, respectively) to improve visuospatial and functional impairments in individuals with USN after stroke. METHODS: This double-blinded, pilot randomized clinical trial enrolled patients with USN after ischemic stroke. Randomization was stratified according to the Behavior Inattention Test-Conventional (BIT-C) and Catherine Bergego Scale (CBS). Outpatient physical therapy was conducted for 7.5 weeks after 20 minutes of tDCS. The primary outcome was the USN degree evaluated by the BIT-C. Secondary outcomes were the difference in CBS score, stroke severity (National Institutes of Health Stroke Scale [NIHSS]), disability (modified Rankin Scale), autonomy (Barthel Index, Functional Independence Measure), and quality of life (EuroQol Group 5-Dimension Self-Report Questionnaire). Outcomes were analyzed using an analysis of covariance model corrected by age, baseline NIHSS, and baseline BIT-C. Pairwise post hoc comparisons were performed using Bonferroni correction. RESULTS: In the primary outcomes, A-tDCS led to greater improvement in BIT-C after intervention (mean difference [MD] = 18.4, 95% confidence interval [CI] = 3.9-32.8, p = 0.008) compared to sham. However, no significant differences were observed between A-tDCS and C-tDCS (MD = 13.9, 95% CI = -0.3 to 28.1, p = 0.057), or C-tDCS and sham (MD = 4.5, 95% CI = -9.7 to 18.8, p = 0.99). There were no significant differences between groups in terms of secondary outcomes. INTERPRETATION: A-tDCS associated with physical therapy can decrease the severity of USN after stroke. However, these preliminary findings must be confirmed by collecting additional evidence in a larger phase 3 trial. ANN NEUROL 2022;92:400-410.

Skin Metastases As First Manifestations of Adenocarcinoma of the Lung: A Case Report.

Lung cancer is the second most common malignancy worldwide, accounting for the highest number of cancer deaths. Advanced lung cancer may infrequently appear as skin metastasis and this may be the first sign of the disease. In these cases, survival is low and prognosis is poor. The aim of this study is to report a case of adenocarcinoma of the lung where the earliest manifestations were skin metastases to the face, cervical region, and chest. A 67-year-old male, former smoker, and alcoholic was referred to the oncology center for investigation of a primary tumor site, presenting with skin lesions suggestive of metastasis to the face, cervical region, and chest. Computed tomography (CT) scan of the chest, cholangioresonance, breast ultrasonography, colonoscopy, upper GI endoscopy, and magnetic resonance imaging of the brain were performed. Imaging studies revealed disseminated cancer with a potential primary site in the right lung. Positron emission tomography (PET)-CT scan demonstrated secondary implants and was consistent with primary right lung cancer. The patient underwent a right lung biopsy of the skin and breast and axillary lymph nodes. A solid subtype of adenocarcinoma with metastases to the skin and axillary nodes was confirmed. Due to widespread metastatic disease, the case was conducted using strategies including chemotherapy and palliative radiotherapy for symptomatic control. At about 6 months of follow-up care, the patient died. In the elderly, periodical cancer screening is important, especially in patients with major risk factors (e.g., history of smoking). Some cancers may be virtually silent and manifest themselves only at advanced stages beyond treatment possibilities.

Genetic testing for hereditary predisposition to breast cancer in the real world: Initial experience.

BACKGROUND: Around 5%-10% of breast cancers are due to hereditary breast and ovarian cancer syndrome. Genetic testing is important to identify these cases, enabling the adoption of specific risk-reducing treatment strategies. OBJECTIVE: To analyze the performance of genetic testing and its implications in patients with indication of genetic testing to identify hereditary predisposition to breast cancer. METHODS: This is a retrospective observational cross-sectional study, including 176 patients with clinical indication of genetic testing for pathogenic variants related to breast, ovarian and pancreatic cancers (among others), managed from 1999 to 2021 in an Oncology private clinic located in the city of Teresina (PI), Brazil. RESULTS: There was a predominance of female patients (98.9%) and those with a family (91.0%) and personal history (64.2%) of cancer. In the study, 102 patients (57.9%) received genetic testing. BRCA1 and BRCA2 pathogenic variants occurred in 26 cases (90%). Another three PALB2 and TP53 pathogenic variants were detected. Eleven pathogenic variant carriers (38%) underwent risk-reducing surgeries. CONCLUSIONS: BRCA1/BRCA2 pathogenic variants occurred in around 25% of tested patients. Approximately 42.0% of the patients did not undergo genetic testing, despite clinical indication.

Hepatic vein migration of a totally implantable venous access port-a-cath for chemotherapy in a breast carcinoma patient: case report.

A totally implantable venous access port (TIVAP) is used for chemotherapy administration. Venous port migration to the systemic circulation occurs in less than 1% of complications. The aim of this study is to describe a case of TIVAP migration to the hepatic vein. A 44-year-old female patient with breast cancer was prescribed neoadjuvant chemotherapy. A port-a-cath was surgically implanted for chemotherapy. During the port puncture procedure, blood returned normally when aspirated. When the port was first accessed and flushed with saline solution, swelling was observed at the port site and blood could no longer be aspirated. A chest radiography showed catheter embolization in the region of the hepatic vein. The catheter was retrieved using a snare technique (without complications) and the patient was discharged the next day. The care team should be alert to possible TIIVAP malfunction.