Female sexual function in long-term cervical cancer survivors compared with healthy women and women affected by benign gynecological disorders.

OBJECTIVE: To compare the female sexual function between cervical cancer survivors and healthy women or with benign gynecological diseases. STUDY DESIGN: From January 1, 2010 to January 31, 2019, a case-control study was conducted to compare the female sexual function of 106 cervical cancer survivors from a tertiary hospital and 185 women admitted to a gynecological outpatient clinic from the same health area for a routine gynecological examination (n=46) or for a benign gynecological disorder (symptomatic, n=113; asymptomatic, n=26). We prospectively assessed the female sexual function using the Female Sexual Function Index (FSFI). For the contrastive analysis hypothesis, we employed R statistical software. RESULTS: Cervical cancer survivors reported lower sexual activity rates than controls, in general, did (47.12% vs. 88.65%, p=0.0001), and, particularly, compared with healthy and symptomatic controls (47.12% vs. 82.61%, p=0.003; 47.12% vs. 87.61%, p=0.0001, respectively). Sixty and fifty-eight hundredths percent of the cervical cancer survivors experienced female sexual dysfunction, mainly due to hypoactive sexual desire (93.27%). Female sexual dysfunction was diagnosed in 64.32% of the controls, with sexual arousal disorders being the most common diagnosis (44.86%). Compared with controls, cervical cancer survivors exhibited considerably lower FSFI total scores and in sexual desire and lubrication domains (p <0.000; p <0.0001; p=0.023). CONCLUSIONS: Cervical cancer survivors had worse female sexual function and less sexual activity than controls did, although scores in both groups were in range of FSD. Rates of female sexual dysfunction were similar across cervical cancer survivors and controls, with hypoactive sexual desire and sexual arousal disorders as the most common diagnoses, respectively.

Quality of life in long-term cervical cancer survivors compared with healthy women and women with benign gynecological disorders.

OBJECTIVE: The impact of cervical cancer treatment on the quality of life of long-term survivors compared with the general female population is controversial, and no studies have been conducted comparing patients with benign gynecological diseases. The aim of this study was to compare the quality of life of cervical cancer survivors with that of healthy controls. STUDY DESIGN: A case-control study was conducted to compare the quality of life of 106 cervical cancer survivors from a tertiary hospital and 185 women admitted to a gynecological outpatient clinic from the same health area for a healthy woman check-up (n 46) or for a benign gynecological disorder (symptomatic, n 113; asymptomatic, n 26). To measure quality of life, self-administered questionnaires, such as the Functional Assessment Cancer Therapy-cervix and World Health Organization quality of life-brief version, were employed. Baseline scores were collected when patients first reported, and further evaluations were completed at 0-6, 7-12, 13-24, 25-60, and more than 60 months. For the contrastive analysis hypothesis, we employed R statistical software. RESULTS: Except for the environment domain at 0-6, 7-12, and 13-24 months (51.52 vs. 60.73, p < 0.0001; 52 vs. 60.73, p < 0.0001; 49.81 vs. 60.73, p < 0.0001, respectively), we found no statistically significant differences in the quality of life between cervical cancer survivors and controls. We did find differences in the physical health domain scores at 0-6 months (60.22 vs. 72.42, p = 0.039) and the social relationships domain scores at 13-24 months (54 vs. 71.42, p = 0.017) between cases and asymptomatic controls. CONCLUSION: Except for physical well-being, environment and social relationships, which were substantially better for controls, especially in the asymptomatic, long-term cervical cancer survivorsquality of life did not vary from that of controls.

Integrated modeling of labile and glycated hemoglobin with glucose for enhanced diabetes detection and short-term monitoring.

Metabolic biomarkers, particularly glycated hemoglobin and fasting plasma glucose, are pivotal in the diagnosis and control of diabetes mellitus. Despite their importance, they exhibit limitations in assessing short-term glucose variations. In this study, we propose labile hemoglobin as an additional biomarker, providing insightful perspectives into these fluctuations. By utilizing datasets from 40,652 retrospective general participants and conducting glucose tolerance tests on 60 prospective pediatric subjects, we explored the relationship between plasma glucose and labile hemoglobin. A mathematical model was developed to encapsulate short-term glucose kinetics in the pediatric group. Applying dimensionality reduction techniques, we successfully identified participant subclusters, facilitating the differentiation between diabetic and non-diabetic individuals. Intriguingly, by integrating labile hemoglobin measurements with plasma glucose values, we were able to predict the likelihood of diabetes in pediatric subjects, underscoring the potential of labile hemoglobin as a significant glycemic biomarker for diabetes research.

Early morning physical activity is associated with healthier white matter microstructure and happier children: the ActiveBrains project.

The background of this study is to examine the associations of individual and combined early morning patterns (i.e., active commuting to school, physical activity before school, having breakfast and good sleep) with white matter microstructure (WMM) and, whether the associated white mater microstructure outcomes were related to mental health outcomes in children with overweight or obesity. 103 children with overweight or obesity (10.0 ± 1.1 years old, 42 girls) from the ActiveBrains project participated in this cross-sectional study. Early morning patterns and mental health indicators (i.e., self-esteem, optimism, positive and negative affect, stress, depression and anxiety) were self-reported by the children using validated questionnaires. WMM was assessed by magnetic resonance imaging using diffusion tensor imaging. When examined independently, early morning patterns were not related with WMM (all P > 0.05). However, the combination of early morning patterns was related with WMM (P < 0.05). Specifically, physically active early morning patterns (i.e., active commuting to school and physical activity before school) were associated with global fractional anisotropy (FA) (ß = 0.298, P = 0.013) and global radial diffusivity (RD) (ß = - 0.272, P = 0.021), as well as with tract-specific FA (ß = 0.314, P = 0.004) and RD (ß = - 0.234, P = 0.032) in the superior longitudinal fasciculus (SLF). Furthermore, combined physically active early morning pattern-associated global (i.e., FA and RD) and tract-specific (i.e., FA and RD in the SLF) WMM indicators were positively associated with happiness (ß absolute value range from 0.252 to 0.298, all P < 0.05). A combination of physically active early morning patterns may positively relate to white matter microstructure in children with overweight or obesity, and, in turn, happiness.

Impact of Ischemia and Preservation Times on Survival in Transplant Recipients From After Circulatory Death Donors.

BACKGROUND: The limitation of ischemia times, which damages the organs and impacts transplant outcomes, is a drawback of controlled donation after circulatory death. METHODS: The aim of the study was to analyze the influence of preservation and ischemia times on overall survival and both censured graft survival and overall graft survival. This was an observational and retrospective study of patients undergoing liver transplantation with grafts from controlled donation after circulatory death between November 2013 and November 2022. RESULTS: Sixty-five patients were included in the study. Twenty percent (12 patients) developed early graft dysfunction according to Olthoff's classification, and 7 patients (11.6%) scored ≥7 points according to the Model for Early Allograft Function Scoring scale. Five patients (7.6%) met the criteria for primary graft failure. The retransplantation rate was 9.2% (6 cases). Fifty patients (76.9%) remained alive, and 15 patients (23.1%) died. When analyzing overall survival based on the main preservation and ischemia times, we observed that the best results occurred in the group with a functional warm ischemia time <12 minutes, with a survival rate at 1, 3, and 5 years of 95.8%, 87.1%, and 87.1%, respectively (P = .043). Regarding the analysis of censured graft survival based on the main preservation and ischemia times, we found that the worst results occurred in the group with a cold ischemia time ≥6 hours, with a survival rate of around 48% at 3 and 5 years (P = .047). CONCLUSIONS: High-risk patients have lower overall and graft survival in the short and long term in grafts from controlled donation after circulatory death.

Development and internal validation of a multivariable prediction model for the quality of life of cervical cancer survivors.

PURPOSE: To elaborate a prediction model for quality of life of cervical cancer survivors. METHODS: We conducted a prospective cohort study on 229 cervical cancer survivors. The quality of life measures included the Functional Assessment Cancer Therapy-Cervix version 4.0 and the World Health Organization Quality of Life-brief version self-administered questionnaires. We imported the data into the statistical software program R and developed a gamma generalized linear model. RESULTS: Our internally validated predictive model for the Functional Assessment Cancer Therapy-Cervix total score was composed of the following predictors: pain, appetite, vaginal bleeding/discharge/odor, and WHOQOL-BREF social relationships domain. The Harrell's concordance index was 0.75. CONCLUSIONS: We developed a solid and internally validated predictive model in cervical cancer survivors based on predictors, such as pain, appetite, vaginal bleeding/odor/discharge, and WHOQOL-BREF social relationships subscale score that contribute significantly to quality of life as targets for potential intervention.

Subacute cutaneous lupus erythematosus following ribociclib therapy for metastatic breast cancer.

INTRODUCTION: Drug-induced subacute cutaneous lupus erythematosus (DI-SCLE) has been associated with drugs with different mechanisms of action, including anti-hypertensives, tumour necrosis factor-α inhibitors and even some chemotherapy medicines. In the last years, a few reports have been described in patients treated with cyclin-dependent kinase (CDK) 4/6 inhibitors, palbociclib and abemaciclib. CASE REPORT: Here, we describe a case of DI-SCLE in association with ribociclib and exemestane in a woman diagnosed with metastatic breast cancer. MANAGEMENT AND OUTCOME: Topical mometasone was prescribed for two weeks with complete resolution of lesions, also abemaciclib was substituted for ribociclib, and the patient had stable disease with no relapse of DI-SCLE. DISCUSSION: To our knowledge, this is the first report of ribociclib-induced SCLE but based on the DI-SCLE reported cases associated others CDK4/6 inhibitors, the role of this family of drugs in dermatopathology must be further investigated.

Dimensionality reduction and ensemble of LSTMs for antimicrobial resistance prediction.

Bacterial resistance to antibiotics has been rapidly increasing, resulting in low antibiotic effectiveness even treating common infections. The presence of resistant pathogens in environments such as a hospital Intensive Care Unit (ICU) exacerbates the critical admission-acquired infections. This work focuses on the prediction of antibiotic resistance in Pseudomonas aeruginosa nosocomial infections at the ICU, using Long Short-Term Memory (LSTM) artificial neural networks as the predictive method. The analyzed data were extracted from the Electronic Health Records (EHR) of patients admitted to the University Hospital of Fuenlabrada from 2004 to 2019 and were modeled as Multivariate Time Series. A data-driven dimensionality reduction method is built by adapting three feature importance techniques from the literature to the considered data and proposing an algorithm for selecting the most appropriate number of features. This is done using LSTM sequential capabilities so that the temporal aspect of features is taken into account. Furthermore, an ensemble of LSTMs is used to reduce the variance in performance. Our results indicate that the patient's admission information, the antibiotics administered during the ICU stay, and the previous antimicrobial resistance are the most important risk factors. Compared to other conventional dimensionality reduction schemes, our approach is able to improve performance while reducing the number of features for most of the experiments. In essence, the proposed framework achieve, in a computationally cost-efficient manner, promising results for supporting decisions in this clinical task, characterized by high dimensionality, data scarcity, and concept drift.

Tumor de células granulares de vulva: un raro tumor genital benigno / Granular cell tumor of vulva: a rare benign genital tumor

Resumen ANTECEDENTES: El tumor de células granulares de la vulva es poco común y de origen neurogénico. Afecta, principalmente, a mujeres entre 60 y 70 años y es más frecuente en la raza negra. CASO CLÍNICO: Paciente de 63 años, con una lesión vulvar indolora y no pruriginosa, en crecimiento. En la exploración se observó una lesión excrecente de 2.5 cm en la región superior del labio mayor izquierdo, dura, vascularizada y con infiltración a 2 cm de profundidad. No se palparon adenopatías sospechosas. Luego del reporte de la biopsia, sugerente de tumor de células granulares, se practicó una escisión completa, con márgenes libres. El estudio inmunohistoquímico se reportó positivo para CD68, S100 y TFE3 lo que confirmó el diagnóstico. Puesto que el índice proliferativo (Ki67) fue inferior al 5% y los márgenes quirúrgicos estaban libres, no se requirió tratamiento adyuvante. La paciente permanece en seguimiento y sin signos de recidiva. CONCLUSIÓN: Si bien los tumores de células granulares de la vulva son poco comunes y casi siempre benignos, deben incluirse en el diagnóstico diferencial de una tumoración vulvar. La inmunohistoquímica es la herramienta más útil para el diagnóstico preciso y su tratamiento de elección es la escisión local amplia, por su tendencia a la recurrencia local.

Abstract BACKGROUND: Granular cell tumor of the vulva is rare and neurogenic in origin. It mainly affects women between 60 and 70 years of age and is more frequent in black women. CLINICAL CASE: A 63-year-old woman with a painless, non-pruritic, growing vulvar lesion. Examination revealed a 2.5 cm excrescent lesion in the upper region of the left labium majus, hard, vascularized and infiltrated to a depth of 2 cm. No suspicious lymph nodes were palpated. After the biopsy report, suggestive of granular cell tumor, complete excision was performed, with free margins. The immunohistochemical study was positive for CD68, S100 and TFE3 which confirming the diagnosis. Since the proliferative index (Ki67) was less than 5% and the surgical margins were clear, adjuvant treatment was not required. The patient remains in follow-up with no signs of recurrence. CONCLUSION: Although granular cell tumors of the vulva are rare and almost always benign, they should be included in the differential diagnosis of a vulvar tumor. Immunohistochemistry is the most useful tool for accurate diagnosis and their treatment of choice is wide local excision because of their tendency for local recurrence.

Learning and visualizing chronic latent representations using electronic health records.

BACKGROUND: Nowadays, patients with chronic diseases such as diabetes and hypertension have reached alarming numbers worldwide. These diseases increase the risk of developing acute complications and involve a substantial economic burden and demand for health resources. The widespread adoption of Electronic Health Records (EHRs) is opening great opportunities for supporting decision-making. Nevertheless, data extracted from EHRs are complex (heterogeneous, high-dimensional and usually noisy), hampering the knowledge extraction with conventional approaches. METHODS: We propose the use of the Denoising Autoencoder (DAE), a Machine Learning (ML) technique allowing to transform high-dimensional data into latent representations (LRs), thus addressing the main challenges with clinical data. We explore in this work how the combination of LRs with a visualization method can be used to map the patient data in a two-dimensional space, gaining knowledge about the distribution of patients with different chronic conditions. Furthermore, this representation can be also used to characterize the patient's health status evolution, which is of paramount importance in the clinical setting. RESULTS: To obtain clinical LRs, we considered real-world data extracted from EHRs linked to the University Hospital of Fuenlabrada in Spain. Experimental results showed the great potential of DAEs to identify patients with clinical patterns linked to hypertension, diabetes and multimorbidity. The procedure allowed us to find patients with the same main chronic disease but different clinical characteristics. Thus, we identified two kinds of diabetic patients with differences in their drug therapy (insulin and non-insulin dependant), and also a group of women affected by hypertension and gestational diabetes. We also present a proof of concept for mapping the health status evolution of synthetic patients when considering the most significant diagnoses and drugs associated with chronic patients. CONCLUSION: Our results highlighted the value of ML techniques to extract clinical knowledge, supporting the identification of patients with certain chronic conditions. Furthermore, the patient's health status progression on the two-dimensional space might be used as a tool for clinicians aiming to characterize health conditions and identify their more relevant clinical codes.

Calcificaciones en TAC craneal, mancha hipocrómica , ¿qué es? / Calcifications in cranial CT scan, hypopigmented macula What is it?

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Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders. METHODS: Fifteen 3D T1-weighted brain images from the International Working Group on Neurotransmitter related Disorders Spanish cohort were assessed (eight with monoamine and seven with amino acid disorders). Volumes of cortical and subcortical brain structures were obtained for each patient and then compared with those of two healthy individuals matched by sex and age. RESULTS: Regardless of the underlying disease, patients showed a smaller total cerebral tissue volume, which was apparently associated with clinical severity. A characteristic volumetric deficit pattern, including the right Heschl gyrus and the bilateral occipital gyrus, was identified. In severe cases, a distinctive pattern comprised the middle and posterior portions of the right cingulate, the left superior motor area and the cerebellum. In succinate semialdehyde dehydrogenase deficiency, volumetric affection seems to worsen over life. CONCLUSION: Despite the heterogeneity and limited size of our cohort, we found novel and relevant data. Total volume deficit appears to be a marker of severity, regardless of the specific neurotransmitter disease and irrespective of the information obtained from conventional neuroimaging. Volumetric assessment of individual brain structures could provide a deeper knowledge about pathophysiology, disease severity and specific clinical traits.

Antimalarials exert a cardioprotective effect in lupus patients: Insights from the Spanish Society of Rheumatology Lupus Register (RELESSER) analysis of factors associated with heart failure.

BACKGROUND/OBJECTIVES: Factors associated with chronic heart failure (CHF) in patients with systemic lupus erythematosus (SLE) have received little attention. Recent data on the use of hydroxychloroquine in the treatment of SARS-CoV-2 infection have cast doubt on its cardiac safety. The factors associated with CHF, including therapy with antimalarials, were analyzed in a large multicenter SLE cohort. METHODS: Cross-sectional study including all patients with SLE (ACR-1997 criteria) included in the Spanish Society of Rheumatology Lupus Register (RELESSER), based on historically gathered data. Patients with CHF prior to diagnosis of SLE were excluded. A multivariable analysis exploring factors associated with CHF was conducted. RESULTS: The study population comprised 117 patients with SLE (ACR-97 criteria) and CHF and 3,506 SLE controls. Ninety percent were women. Patients with CHF were older and presented greater SLE severity, organ damage, and mortality than those without CHF. The multivariable model revealed the factors associated with CHF to be ischemic heart disease (7.96 [4.01-15.48], p < 0.0001), cardiac arrhythmia (7.38 [4.00-13.42], p < 0.0001), pulmonary hypertension (3.71 [1.84-7.25], p < 0.0002), valvulopathy (6.33 [3.41-11.62], p < 0.0001), non-cardiovascular damage (1.29 [1.16-1.44], p < 0.000) and calcium/vitamin D treatment (5.29 [2.07-16.86], p = 0.0015). Female sex (0.46 [0.25-0.88], p = 0.0147) and antimalarials (0.28 [0.17-0.45], p < 0.000) proved to be protective factors. CONCLUSIONS: Patients with SLE and CHF experience more severe SLE. Treatment with antimalarials appears to confer a cardioprotective effect.

Renal Function in Receptors With Simultaneous Liver-Kidney Transplant From the Same Donor.

Controversy surrounds the suitability of simultaneous liver-kidney transplant (SLKT) when compared with sequential transplant. Pretransplant renal failure is a post-transplant mortality predictor, and studies demonstrate worse functioning and lower survival of the renal graft when compared with kidney transplant alone (KTA). BACKGROUND: This study compares renal function in patients with SLKT and those who received the contralateral kidney from the same donor. MATERIAL AND METHODS: From June 2017 to February 2021, 5 SLKTs were performed in our hospital, and contralateral kidney grafts took place in other Andalusian Modification on Diet in Renal Disease-4 hospitals. Renal function was assessed according to glomerular filtration (GF) by the formula (that uses 4 variables: creatinine, age, sex, and race) during different periods of time; and the average increase of GF during 6 months in both groups was compared. Other factors from donors and receptors were also compared. RESULTS: No statistically significant differences between average GF in both groups were found; however, there were statistically significant differences when we compared the GF increase 6 months after the transplant in both groups of patients, being that increase higher in patients with KTA. CONCLUSIONS: Despite our small sample size, our study found that patients with SLKT have worse functioning of the kidney graft than those with KTA.

Cáncer de endometrio: tratamiento quirúrgico en un hospital comunitario de España / Endometrial cancer: surgical treatment in a community hospital in Spain

Resumen OBJETIVO: Exponer los desenlaces quirúrgicos de las pacientes intervenidas por cáncer de endometrio, analizar si existen puntos de mejora en nuestra práctica clínica y aportar más datos a la evidencia publicada, para ayudar al avance en el tratamiento quirúrgico de las pacientes con esta enfermedad MATERIALES Y MÉTODOS: Estudio observacional, descriptivo y retrospectivo llevado a cabo en la Unidad de Oncología Ginecológica del Hospital Regional Virgen Macarena de Sevilla, España, entre junio de 2013 y febrero de 2020. Se reunieron los reportes quirúrgicos de pacientes intervenidas por alguna afección endometrial premaligna o maligna. Variables de estudio: edad, IMC, cirugías previas, diagnóstico histopatológico y estadio, vía de acceso quirúrgico y terapia coadyuvante. Se exponen los desenlaces relacionados con complicaciones quirúrgicas y tasa de curación, así como el tiempo de intervención, vía de acceso quirúrgico y estancia hospitalaria. RESULTADOS: Se estudiaron 250 pacientes, la mayoría (76%) con diagnóstico de adenocarcinoma endometrioide de endometrio. La vía de acceso quirúrgico más utilizada fue la laparoscopia (51.6%), con un porcentaje de complicaciones intraoperatorias del 10% y posoperatorias del 9.2%. El 88.4% de las pacientes permanece viva y libre de enfermedad después del tratamiento, con recaídas solo en el 11.6% y 8% de fallecimientos. CONCLUSIONES: El tratamiento inicial de elección, en pacientes con hiperplasia con atipias o cáncer de endometrio en estadios tempranos, es la cirugía, mediante histerectomía, doble anexectomía y en algunos casos linfadenectomía asociada. La elección de la vía quirúrgica de acceso debe individualizarse a las condiciones particulares de cada paciente. La laparoscopia ofrece múltiples ventajas, es una técnica en auge y cada día más practicada.

Abstract OBJECTIVE: To expose the surgical outcomes of patients operated on for endometrial cancer, to analyze if there are points of improvement in our clinical practice and to contribute more data to the published evidence, to help advance the surgical treatment of patients with this disease. MATERIALS AND METHODS: Observational, descriptive, and retrospective study carried out in the Gynecologic Oncology Unit of the Virgen Macarena Regional Hospital of Seville, Spain, between June 2013 and February 2020. Surgical reports of patients operated on for any premalignant or malignant endometrial condition were collected. Study variables: age, BMI, previous surgeries, histopathological diagnosis and stage, surgical access route and adjuvant therapy. Outcomes related to surgical complications and cure rate are presented, as well as operation time, surgical access route and hospital stay. RESULTS: 250 patients were studied, the majority (76%) with a diagnosis of endometrioid endometrial adenocarcinoma. The most used surgical access route was laparoscopy (51.6%), with a percentage of intraoperative complications of 10% and postoperative complications of 9.2%. 88.4% of patients remain alive free of disease after treatment, with relapses in only 11.6% and 8% deaths. CONCLUSIONS: The initial treatment of choice in patients with hyperplasia with atypia or early-stage endometrial cancer is surgery, by hysterectomy, double adnexectomy and in some cases associated lymphadenectomy. The choice of surgical approach must be individualized to the conditions of each patient. Laparoscopy offers multiple advantages; it is a technique that is on the rise and is being used more and more frequently.

Interpreting clinical latent representations using autoencoders and probabilistic models.

Electronic health records (EHRs) are a valuable data source that, in conjunction with deep learning (DL) methods, have provided important outcomes in different domains, contributing to supporting decision-making. Owing to the remarkable advancements achieved by DL-based models, autoencoders (AE) are becoming extensively used in health care. Nevertheless, AE-based models are based on nonlinear transformations, resulting in black-box models leading to a lack of interpretability, which is vital in the clinical setting. To obtain insights from AE latent representations, we propose a methodology by combining probabilistic models based on Gaussian mixture models and hierarchical clustering supported by Kullback-Leibler divergence. To validate the methodology from a clinical viewpoint, we used real-world data extracted from EHRs of the University Hospital of Fuenlabrada (Spain). Records were associated with healthy and chronic hypertensive and diabetic patients. Experimental outcomes showed that our approach can find groups of patients with similar health conditions by identifying patterns associated with diagnosis and drug codes. This work opens up promising opportunities for interpreting representations obtained by the AE-based model, bringing some light to the decision-making process made by clinical experts in daily practice.

Data and Network Analytics for COVID-19 ICU Patients: A Case Study for a Spanish Hospital.

The COVID-19 pandemic presents unprecedented challenges to the healthcare systems around the world. In 2020, Spain was among the countries with the highest Intensive Care Unit (ICU) hospitalization and mortality rates. This work analyzes data of COVID-19 patients admitted to a Spanish ICU during the first wave of the pandemic. The patients in our study either died (deceased patients) or were discharged from the ICU (non-deceased patients) and underwent the following landmarks: beginning of symptoms; arrival at the emergency department; beginning of the hospital stay; and ICU admission. Our goal is to create a graph-based data-science methodology to find associations among patients' comorbidities, previous medication, symptoms, and the COVID-19 treatment, and to analyze their evolution across landmarks. Towards that end, we first perform a hypothesis test based on bootstrap to identify discriminative features among deceased and non-deceased patients. Then, we leverage graph-based representations and network analytics to determine pairwise associations and complex relations among clinical features. The descriptive statistical analysis confirms that deceased patients exhibit multiple comorbidities with stronger levels of association and are treated with a wider range of drugs during the ICU stay. We also observe that the most common treatment was the simultaneous administration of lopinavir/ritonavir with hydroxychloroquine, regardless of the patients' outcome. Our results illustrate how graph tools and representations yield insights on the relations among comorbidities, drug treatments, and patients' evolution. All in all, the approach puts forth a new data-analysis tool for clinicians that can be applied to analyze (post-COVID) symptom/patient evolution.

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regarding the risks and clinical features associated with these genes. (2) Methods: Ninety-six BC index cases (ICs) with high-risk features for hereditary breast and ovarian cancer (HBOC) and with a previous uninformative result for BRCA1/2 were tested with a panel of 41 genes associated with BC risk. The frequency of pathogenic variants (PVs) was related to the clinical characteristics of BC. (3) Results: We detected a PV rate of 13.5% (excluding two cases each of BRCA1 and MUTYH). Among the 95 assessed cases, 17 PVs were identified in 16 ICs, as follows: BRCA1 (n = 2), CHEK2 (n = 3), ATM (n = 5), MUTYH (n = 2), TP53 (n = 2), BRIP1 (n = 1), CASP8 (n = 1), and MSH2 (n = 1). We also identified a novel loss-of-function variant in CASP8, a candidate gene for increased BC risk. There was no evidence that the clinical characteristics of BC might be related to a higher chance of identifying a PV. (4) Conclusions: In our cohort, which was enriched with families with a high number of BC cases, a high proportion of mutations in ATM and CHEK2 were identified. The clinical characteristics of BC associated with moderate-risk genes were different from those related to BRCA1/2 genes.

Relevance of gastrointestinal manifestations in a large Spanish cohort of patients with systemic lupus erythematosus: what do we know?

OBJECTIVE: SLE can affect any part of the gastrointestinal (GI) tract. GI symptoms are reported to occur in >50% of SLE patients. To describe the GI manifestations of SLE in the RELESSER (Registry of SLE Patients of the Spanish Society of Rheumatology) cohort and to determine whether these are associated with a more severe disease, damage accrual and a worse prognosis. METHODS: We conducted a nationwide, retrospective, multicentre, cross-sectional cohort study of 3658 SLE patients who fulfil ≥4 ACR-97 criteria. Data on demographics, disease characteristics, activity (SLEDAI-2K or BILAG), damage (SLICC/ACR/DI) and therapies were collected. Demographic and clinical characteristics were compared between lupus patients with and without GI damage to establish whether GI damage is associated with a more severe disease. RESULTS: From 3654 lupus patients, 3.7% developed GI damage. Patients in this group (group 1) were older, they had longer disease duration, and were more likely to have vasculitis, renal disease and serositis than patients without GI damage (group 2). Hospitalizations and mortality were significantly higher in group 1. Patients in group 1 had higher modified SDI (SLICC Damage Index). The presence of oral ulcers reduced the risk of developing damage in 33% of patients. CONCLUSION: Having GI damage is associated with a worse prognosis. Patients on a high dose of glucocorticoids are at higher risk of developing GI damage which reinforces the strategy of minimizing glucocorticoids. Oral ulcers appear to decrease the risk of GI damage.