Prevalence and acceptability of psychological and/or economic intimate partner violence, and utilization of mental health services by its survivors in Lithuania.

BACKGROUND: Lithuania has one of the highest averages in the European Union when it comes to psychological and/or economic intimate partner violence (PE-IPV). IPV survivors are several times more likely to have mental health conditions than those without IPV experiences. The aim of this article is to study the prevalence, characteristics and attitudes of PE-IPV survivors in Lithuania, and the predictors of them accessing mental health services. METHODS: A cross-sectional study based on a national survey representative of the adult population. The survey was implemented by a third-party independent market research company employing an online survey panel. Logistic regression models were used in the analysis. RESULTS: Almost 50% of women in Lithuania experience PE-IPV. Females are significantly more likely to experience it than males. The vast majority of women find PE-IPV unacceptable; however, only one-third of survivors seek any type of help. Only one-tenth approach mental health services, with divorcees being at higher odds of doing so. CONCLUSIONS: Further research is needed to explore predictors and contextual factors of why IPV survivors seek mental healthcare, or not. Policy implications include the need to eliminate IPV and mental health stigma; develop accessible mental health services and effective treatment approaches.

Responding to the needs of survivors of intimate partner violence in Lithuania: perceptions of mental health and social care professionals.

Around eight-out-of-ten survivors of domestic violence in Lithuania are women, and of those, eight-out-of-ten suffer violence specifically from their intimate partners (IPV). Women who experience IPV are at higher risk of having mental health conditions. This study aims to explore the perspectives of mental health and social care professionals regarding the provision of mental health support to IPV survivors in Lithuania. Four focus groups were conducted among 29 service providers from across the country. Audio-recordings were transcribed verbatim and analyzed thematically using MAXQDA software. The five main themes derived from the analysis reveal: 1) low levels of IPV awareness among IPV survivors who seek support with their mental health; 2) a lack of specialized training among professionals as a barrier to effective support; 3) a low prioritization on the national level; 4) little inter-sectoral collaboration which undermines the complexity of needed responses; 5) broader systemic problems. The provision of mental health support to IPV survivors lacks the recognition that IPV is gender-based violence and a major public (mental) health problem. The complexity of needed services is absent. Further research needs to explore the utilization of mental health services by IPV survivors and their perceptions concerning it.

The Concept behind the Suitability of Menstrual Blood-Derived Stem Cells for the Management of Vaginal Atrophy among BRCA Mutation Carriers after RRSO.

Risk-reducing bilateral salpingo-oophorectomy (RRSO) is recommended for breast cancer gene 1 (BRCA1) and 2 (BRCA2) mutation carriers. A major consequence of RRSO is surgical menopause associated with severe menopausal symptoms, mostly genitourinary complaints. Due to the inherent breast cancer risk, estrogen-based therapies are generally avoided in these patients. So far, the non-hormonal approaches available are not efficient to successfully treat the disabling vaginal atrophy-related symptoms. In regenerative medicine, mesenchymal stem cells (MSC) are the most frequently used cell type due to their remarkable and regenerative characteristics. Therapies based on MSC have revealed positive outcomes regarding symptoms and signs associated with vaginal atrophy by promoting angiogenesis, vaginal restoration, and the proliferation of vaginal mucosa cells. Menstrual blood-derived stem cells (MenSC) are a novel source of MSC, with promising therapeutic potential directly linked to their high proliferative rates; low immunogenicity; non-invasive, easy, and periodic acquisition; and almost no associated ethical issues. In this review, we update the current knowledge and research regarding the potential value of previously preserved MenSC in the therapy of vaginal atrophy among BRCA mutation carriers subjected to RRSO.

Use of coercion in mental healthcare services in Nigeria: Service providers' perspective.

BACKGROUND: There is increasing advocacy to reduce coercive practices in mental healthcare. Little research has been done on the topic in developing countries. AIMS: To explore what mental health professionals in Nigeria think about coercion, why it is used, and what contextual factors influence its use in mental healthcare services. METHODS: Semi-structured interviews were carried out with 16 doctors and 14 nurses from two psychiatric hospitals in two regions of Nigeria. The audio-recorded interviews were analyzed thematically with the aid of MAXQDA software. RESULTS: Three broad categories relating to the perception of, reasons for, and barriers/facilitators to the use of coercion were derived. Coercion was viewed as being for the best interests of patients, a means to an end, and effective for achieving desired outcomes. Safety was both a reason to use a coercive measure and a deterrent to using specific coercive measures thought to be unsafe. The socio-cultural context, obsolete mental health legislation, staff shortages, and attitudes were factors influencing the use of coercion in mental healthcare. CONCLUSION: Coercion was perceived to be ultimately beneficial in mental health practice. There is need for a new mental health legislation and more resources for mental health care in Nigeria to address the problem of coercion.

A qualitative integrative analysis of service users' and service providers' perspectives on ways to reduce coercion in mental health care.

PURPOSE: The movement to develop and implement non-coercive alternatives in the provision of mental health care is gaining momentum globally. To strengthen the basis of potential interventions that will be contextually relevant, and to complement the body of literature which is largely from high-income settings, the current study sought to explore the suggestions of service users and providers in Nigeria on how to reduce the use of coercive measures in mental health settings. METHODS: Semi-structured interviews with 30 mental health professionals and four focus group discussions among 30 service users from two psychiatric hospitals in Nigeria were conducted. The data were analyzed thematically with the aid of MAXQDA. RESULTS: The suggestions proposed by service users and mental health professionals were within the broad themes of communication, policies and legislation, and increased resources. Service users felt that improved communication, home consultations, non-legal advocates and clear rules and legislation would reduce the use of coercion, while service providers suggested increased public mental health literacy, better interpersonal relationships with patients, increased resources for mental health care, more research on the topic and regulation of coercive measures. CONCLUSION: Many of the suggestions from this study reinforce strategies already in place to decrease coercion in other settings. However, additional recommendations that are relevant to the study setting, such as enhancing public mental health literacy, mental health legislation reform and increasing access to mental health services, deserve further consideration.

New Insights into Photobiomodulation of the Vaginal Microbiome-A Critical Review.

The development of new technologies such as sequencing has greatly enhanced our understanding of the human microbiome. The interactions between the human microbiome and the development of several diseases have been the subject of recent research. In-depth knowledge about the vaginal microbiome (VMB) has shown that dysbiosis is closely related to the development of gynecologic and obstetric disorders. To date, the progress in treating or modulating the VMB has lagged far behind research efforts. Photobiomodulation (PBM) uses low levels of light, usually red or near-infrared, to treat a diversity of conditions. Several studies have demonstrated that PBM can control the microbiome and improve the activity of the immune system. In recent years, increasing attention has been paid to the microbiome, mostly to the gut microbiome and its connections with many diseases, such as metabolic disorders, obesity, cardiovascular disorders, autoimmunity, and neurological disorders. The applicability of PBM therapeutics to treat gut dysbiosis has been studied, with promising results. The possible cellular and molecular effects of PBM on the vaginal microbiome constitute a theoretical and promising field that is starting to take its first steps. In this review, we will discuss the potential mechanisms and effects of photobiomodulation in the VMB.

Awareness of the Causes Leading to Surgical Ablation of Ovarian Function in Premenopausal Breast Cancer-A Single-Center Analysis.

Background and Objectives: Ovarian surgical ablation (OSA) in estrogen receptor-positive (ER+) breast cancer is usually performed to halt ovarian function in premenopausal patients. Since alternative pharmacological therapy exists and few studies have investigated why surgery is still performed, we aimed to analyze the reasons for the use of OSA despite the remaining controversy. Materials and Methods: Premenopausal ER+ breast cancer patients treated at a tertiary center (2005-2011) were selected, and patients with germline mutations were excluded. Results: Seventy-nine patients met the inclusion criteria. Globally, the main reasons for OSA included: continued menstruation despite hormone therapy with or without ovarian medical ablation (OMA) (34.2%), patient informed choice (31.6%), disease progression (16.5%), gynecological disease requiring surgery (13.9%), and tamoxifen intolerance/contraindication (3.8%). In women aged ≥45 years, patient choice was significantly more frequently the reason for OSA (47.4% versus 17.1% (p = 0.004)). For those aged <45 years, salvation attempts were significantly more frequent as compared to older women (26.8% versus 5.3% (p = 0.01)). In 77.8% of women undergoing OSA with menstrual cycle maintenance, surgery was performed 1-5 years after diagnosis, while surgery was performed earlier (0-3 months after diagnosis) in patients undergoing OSA as an informed choice (56.0%), as a salvation attempt (53.8%), or due to gynecological disease (63.6%). The leading reason for OSA in women previously undergoing OMA was continued menstruation (60.0%). Conclusions: This study suggests a possible failure of pharmacological ovarian suppression and reinforces the need for shared decision-making with patients when discussing treatment strategies, although validation by further studies is warranted due to our limited sample size.

Risk Factors for Recoarctation and Mortality in Infants Submitted to Aortic Coarctation Repair: A Systematic Review.

Aortic coarctation is a common congenital heart defect that often requires correction at a young age. Currently, success is defined by the achievement of a durable repair with low morbidity and mortality. We sought to systematically review the literature on risk factors for recoarctation and mortality in infants submitted to aortic arch coarctation repair under 1 year of age. PubMed and Scopus were searched for studies reporting risk factors for recoarctation and mortality from January 1989 to August 2019. Among the 1038 retrieved articles, 18 met the inclusion criteria, with a total of 2891 patients. The extracted risk factors for recoarctation were comprehensively summarized in the following categories: demographic variables, associated anomalies, clinical and repair variables, and morphometric variables. Younger age and lower weight were weak determinants of need for reintervention, while smaller aortic arch was a strong predictor of recoarctation. While balloon angioplasty is a clear risk factor for arch restenosis, the chosen surgical technique is not a strong risk factor. Associated minor cardiac anomalies and lower weight at surgery were important risk factors for death. Younger and smaller infants are at increased risk for adverse outcomes when submitted to aortic arch coarctation repair. This is particularly important when associated with smaller arch morphology. Strategies to improve the management of these patients may play a key role in improving their outcomes. Notably, surgical technique was not a strong predictor of recoarctation and mortality, suggesting that the choice of one over the other should be tailored.

Incidence, predictive factors and clinical significance of development of portal vein thrombosis in cirrhosis: A prospective study.

BACKGROUND AND AIMS: The role of portal vein thrombosis (PVT) in the natural history of cirrhosis is controversial. There are few prospective studies validating risk factors for development of PVT. We analysed the incidence, factors associated with PVT development and its influence on cirrhosis decompensations and orthotopic liver transplant (OLT)-free survival. METHODS: In this prospective observational study between January 2014 and March 2019, 445 consecutive patients with chronic liver disease were screened and finally 241 with cirrhosis included. Factors associated with PVT development and its influence on cirrhosis decompensations and OLT-free survival by time dependent covariate coding were analysed. RESULTS: Majority of patients belonged to Child-Pugh class A 184 (76.3%) and the average MELD score was 10 ± 5. Previous cirrhosis decompensations occurred in 125 (52.1%), 63 (26.1%) were on NSBB and 59 (27.2%) had undergone banding for bleeding prophylaxis. Median follow-up was 29 (1-58) months. Cumulative incidence of PVT was 3.7% and 7.6% at 1 and 3 years. Previous decompensation of cirrhosis and low platelet counts but not NSBB independently predicted the development of PVT. During follow-up, 82/236 (34.7%) patients developed cirrhosis decompensations. OLT-free survival was 100% and 82.8% at 3 years, with and without PVT respectively. MELD score, but not PVT, independently predicted cirrhosis decompensations (HR 1.14; 95%CI:1.09-1.19) and OLT-free survival (HR 1.16;95%CI:1.11-1.21). CONCLUSION: Previous decompensations of cirrhosis and thrombocytopenia predict PVT development in cirrhosis suggesting a pathophysiologic role for severity of portal hypertension. PVT development did not independently predict cirrhosis decompensations or lower OLT-free survival.

Anticoagulation in Cirrhosis and Portal Vein Thrombosis Is Safe and Improves Prognosis in Advanced Cirrhosis.

BACKGROUND: The role of portal vein thrombosis (PVT) in the natural history of cirrhosis is controversial. AIMS: We analyzed the safety and effect of anticoagulant therapy (AT) on PVT recanalization and orthotopic liver transplant (OLT)-free survival. METHODS: Eighty consecutive patients from a prospective registry of cirrhosis and non-tumoral PVT at a tertiary center were analyzed. AT effect on PVT recanalization and OLT-free survival was determined by time-dependent Cox regression analysis. RESULTS: Average MELD score was 15 ± 7. Portal hypertension-related complications at PVT diagnosis were present in 65 (81.3%) patients. Isolated portal vein trunk/branch thrombosis was present in 53 (66.3%) patients. AT was started in 37 patients. AT was stopped in 17 (45.9%) patients, in 4 (10.8%) due to bleeding events. No variceal bleeding occurred while on AT. Anticoagulation was restarted in 6/17 (35.2%) patients due to rethrombosis. In 67 patients with adequate follow-up imaging, AT significantly increased the rate of PVT recanalization compared with those who did not receive anticoagulation [51.4% (18/35) vs 6/32 (18.8%), p = 0.005]. OLT-free survival after a median follow-up of 25 (1-146) months was 32 (40%). Although there was no significant effect of AT on overall OLT-free survival, OLT-free survival was higher among patients with MELD ≥ 15 receiving AT compared to those who did not (p = 0.011). Baseline MELD at PVT detection independently predicted PVT recanalization (HR 1.11, 95% CI 1.01-1.21, p = 0.027) and mortality/OLT (HR 1.12, 95% CI 1.05-1.19, p < 0.001). CONCLUSIONS: Although AT did not improve overall OLT-free survival, it was associated with higher survival in advanced cirrhosis. Anticoagulation increased PVT recanalization and should be maintained after PVT recanalization to avoid rethrombosis.

Classification of Chronic Obstructive Pulmonary Disease (COPD) according to the new Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2017: Comparison with GOLD 2011.

Chronic Obstructive Pulmonary Disease (COPD) is a major cause of morbidity and mortality worldwide. The Global Initiative for Chronic Obstructive Lung Disease (GOLD) project has been working to improve awareness, prevention and management of this disease. The aim of this study is to evaluate how COPD patients are reclassified by the 2017 GOLD system (versus GOLD 2011), to calculate the level of agreement between these two classifications in allocation to categories and to compare the performance of each classification to predict future exacerbations. Two-hundred COPD patients (>40 years, post bronchodilator forced expiratory volume in one second/forced vital capacity<0.7) followed in pulmonology consultation were recruited into this prospective multicentric study. Approximately half of the patients classified as GOLD D [2011] changed to GOLD B [2017]. The extent of agreement between GOLD 2011 and GOLD 2017 was moderate (Cohen's Kappa = 0.511; p < 0.001) and the ability to predict exacerbations was similar (69.7% and 67.6%, respectively). GOLD B [2017] exacerbated 17% more than GOLD B [2011] and had a lower percent predicted post bronchodilator forced expiratory volume in one second (FEV1). GOLD B [2017] turned to be the predominant category, more heterogeneous and with a higher risk of exacerbation versus GOLD B [2011]. Physicians should be cautious in assessing the GOLD B [2017] patients. The assessment of patients should always be personalized. More studies are needed to evaluate the impact of the 2017 reclassification in predicting outcomes such as future exacerbations and mortality.

Parvovirus B19 infection associated with hemolytic anemia and cranial polyneuropathy.

Parvovirus B19 (PB19) is a common, widespread, small, single-stranded DNA virus which has been linked with a broad spectrum of clinical illnesses, including a variety of neurological complications such as encephalitis, meningitis, myelitis, stroke, cerebellar ataxia, and neuropathy. The authors describe a case of PB19 infection associated with hemolytic anemia and cranial polyneuropathy involving the second and third cranial nerves in a 23-year-old immunocompetent woman. The diagnosis of acute PB19 infection was established with detection of positive DNA and anti-PB19 IgM antibodies in blood samples. Antiganglioside antibody studies were performed and serum anti-GD1b IgG was strongly positive. Further investigation was normal or negative, excluding other infectious or autoimmune disorders. The patient was initially treated with a 5-day course of intravenous immunoglobulin (IGIV). Because of incomplete neurological recovery, methylprednisolone was also administered 7 days after IGIV therapy initiation. Complete resolution of clinical symptoms was observed 3 months after disease onset at follow-up visit, despite the persistence of PB19 DNA and anti-PB19 IgM antibodies in serum 5 months after the initial presentation. Our report provides evidence that PB19 could affect both the central and peripheral nervous system, possibly by triggering an autoimmune mechanism that leads to autoantibody production.

Lung cancer in never-smokers - what are the differences?

INTRODUCTION: Characteristics of never-smokers with lung cancer are still not fully clarified. The aim of this study was to compare never-smokers and ever-smokers with non-small cell lung cancer (NSCLC) regarding patient and tumor characteristics. METHODS: All consecutive newly NSCLC patients with known smoking status diagnosed between 2011 and 2015 were included in this retrospective cohort study. Clinical, histological, and molecular characteristics were compared between ever-smokers and never-smokers. RESULTS: Of the 558 included patients, 125 (22.4%) were never-smokers. These patients were more likely to be female (74% vs. 7%, p < .001), older (67 vs. 66 years-old, p = .019), and have adenocarcinoma (93% vs. 65%, p < .001). Never-smokers took longer to seek medical care after the symptoms onset (3 vs. 2 months, p < .001), regardless of the symptoms, histological type, or gender (OR: 1.2 [1.4-2.0]). The metastatic pattern was different in never-smokers: pleural metastases were more frequent (OR: 2.1 [1.1-4.0]), regardless of the histological type and gender. Never-smokers had a higher prevalence of ALK translocations (26% vs. 4%, p < .001) and EGFR mutations (36% vs. 8%, p < .001). The type of EGFR mutation was also significantly different between groups. CONCLUSIONS: Never-smokers with NSCLC present distinct demographic and clinical characteristics. The characteristics of tumor also differ between never-smokers and ever-smokers, which may suggest different carcinogenic pathways.

Allergic contact dermatitis caused by (meth)acrylates in nail cosmetic products in users and nail technicians - a 5-year study.

BACKGROUND: The increasing use of long-lasting nail aesthetic products has led to a growing number of cases of allergic contact dermatitis (ACD) caused by (meth)acrylates in recent years. OBJECTIVES: To provide information on ACD caused by (meth)acrylates related to nail cosmetic products. METHODS: We retrospectively reviewed files of patients with ACD caused by (meth)acrylates related to nail cosmetic products, who were patch tested between January 2011 and December 2015 in 13 departments of dermatology in Portugal. RESULTS: Two-hundred and thirty cases of ACD caused by (meth)acrylates (55 technicians, 56 consumers, and 119 with mixed exposure) had been documented, mostly as chronic hand eczema (93%). The most common sensitizers were: 2-hydroxyethyl methacrylate (HEMA), which was positive in 90% of the tested patients, 2-hydroxypropyl methacrylate (HPMA), which was positive in 64.1%, and ethyleneglycol dimethacrylate, which was positive in 54.5%. CONCLUSION: HEMA and HPMA were the most frequent positive allergens. HEMA, which identified 90% of cases, can be considered to be a good screening allergen. The high number of cases of ACD caused by (meth)acrylates in nail cosmetic products certainly warrants better preventive measures at the occupational level, and specific regulation in the field of consumer safety.

Fibroblast growth factor 23 is associated with left ventricular hypertrophy, not with uremic vasculopathy in peritoneal dialysis patients.

AIMS: Cardiovascular (CV) events are the leading cause of morbidity and mortality in patients with chronic kidney disease (CKD), including those patients on peritoneal dialysis (PD). Fibroblast growth factor 23 (FGF23) has been associated with left ventricular hypertrophy (LVH) and mortality in patients with CKD. However, the role of FGF23 in uremic vasculopathy remains unclear. In this study, we aimed to assess the relationship between FGF23 and LVH, endothelial dysfunction, vascular calcification, and arterial stiffness in 48 stable PD patients. METHODS: Left ventricular mass index (LVMI) was assessed using 2-D echocardiography. Intact FGF23 blood levels were evaluated using an ELISA kit (Immutopics, Inc., San Clemente, CA, USA). Reactive hyperemia index (RHI) is a surrogate marker of endothelial dysfunction and the augmentation index (AI) is a surrogate marker of arterial stiffness. Both were assessed using peripheral arterial tonometry (EndoPAT 2000). Vascular calcification (VC) was assessed using the Adragão score. RESULTS: In unadjusted analysis; FGF23 was positively correlated with serum Pi (r = 0.487, p < 0.001), serum urea (r = 0.351, p = 0.015), serum creatinine (r = 0.535, p < 0.001), dialysis vintage (r = 0.309, p = 0.033), and LVMI (r = 0.369, p = 0.027) and was negatively correlated with age (r = -0.343, p = 0.017), residual renal function (r = -0.359, p < 0.012), and AI (r = -0.304, p = 0.038). In multivariate adjusted analysis, FGF23 was associated with LVMI (ß = 0.298, p = 0.041), serum Pi (ß = 0.345, p = 0.018), and age (ß = -0.372, p = 0.007) independent of dialysis vintage, gender, residual renal function (RRF), albumin, C-reactive protein and systolic blood pressure. There were no associations found between FGF23 and RHI, AI, or VC in multivariable- adjusted models. CONCLUSIONS: Our results show that FGF23 is associated with LVH but not with endothelial dysfunction, arterial stiffness, or vascular calcification in PD patients.

Characteristics and patient-reported outcomes of long-term lung cancer survivors.

Background: Due to advances in screening and treatment of lung cancer, there has been increased interest in long-term lung cancer survivors (LTLCS). The aim of this study was to evaluate the prevalence of LTLCS, their characteristics and patient-reported outcomes (PROs) of LTLCS. Methods: Cross-sectional study that included patients diagnosed with primary lung cancer between Jan 2012 and Dec 2016 whose overall survival (OS) was greater than 5 years. A self-administered questionnaire was applied, including European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core-30 (EORTC QLQ-C30), Patient Health Questionnaire-4 (PHQ-4) and two open questions regarding quality of life (QoL) and suggestions for improvements. Factors potentially related to QoL were analysed. Results: Of 767 lung cancer patients, 158 (20.6%) were LTLCS and LTLCS' proportion increased yearly. Most patients were male (70.9%) with median age of 65 [interquartile range (IQR), 56-71] years. Fifty-seven percent had adenocarcinoma, 66.2% were diagnosed at early stages but 8.9% were at stage IV. During follow-up, 77.1% quitted smoking, 31.8% had disease progression/relapse and 15.2% developed other tumours. Of all living LTLCS, 100 (85%) patients answered the PROs questionnaire. The median Global Health score was 66.67 (IQR, 50-83), social functioning had the best score and emotional functioning the worst. Pain and fatigue were the symptoms with the worst impact on QoL. PHQ-4 identified mental distress in 36% and patients with a lower QoL were more likely to present anxiety (35.3% vs. 9.4%, P=0.007) or depression (27.9% vs. 3%, P=0.006). In the open questions, patients reported pain (17%), lack of familiar/financial support (16%), dyspnoea (14%), depression (8%), concern for the future (8%) and limitations performing daily activities (8%) as the aspects with most impact in QoL. The most suggested measures were improvement of care provided by health institutions (25%) and better social support (16%). Conclusions: Prevalence of LTLCS is increasing and survivors may experience a high prevalence of anxiety and depression as well as a high disease burden affecting QoL. Therefore, it's important to provide multidisciplinary continuous patient-centred care and a careful follow-up for all lung cancer patients, including LTLCS.

Companion Animal Owners' Knowledge, Attitudes and Perceptions Regarding Antibiotic Use in Portugal.

While multiple studies have focused on the motivations surrounding antibiotic prescription among veterinarians, little is known about companion animal owners' knowledge, attitude and perception (KAP) regarding the topic. A nationwide survey directed toward Portuguese dog and cat owners was conducted online and at veterinary practices to characterize their KAP regarding antibiotics. After database curation, a total of 423 valid submissions were considered. Although 97.9% of respondents stated that they knew what an antibiotic was, 23.5% and 19.2% answered that they were used to treat viral and fungal infections, respectively. Antimicrobial effectiveness was favored over cost when 87.7% of owners agreed they would prefer to spend more money to identify the appropriate antibiotic. Around 87% of respondents recognized antibiotic resistance as a significant health problem and 74.6% strongly agreed/somewhat agreed that antibiotic use in pets may contribute to resistance development. However, only 25.3% recognized that this could promote resistance dissemination, showing little awareness of the interconnection between human and animal health. Moreover, 55.6% of respondents were neutral when asked whether antibiotics used in veterinary medicine were also important for humans. These findings suggest that communication between veterinarians and pet owners can still be improved to further clarify the impact that antibiotic use has in pets from a One-Health perspective, also enabling antimicrobial stewardship interventions.

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

INTRODUCTION: Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a Portuguese cohort of PXE patients. METHODS: Multicentric cross-sectional study conducted in patients with a clinical and genetic diagnosis of PXE. Patients were identified using the IRD-PT registry (www.retina.com.pt). Genotypes were classified into 3 groups: (1) two truncating variants, (2) two non-truncating variants, or (3) mixed variants. Deep phenotyping comprised a comprehensive ophthalmologic and systemic evaluation using the updated Phenodex Score (PS). RESULTS: Twenty-seven patients (23 families) were included. Sixteen different ABCC6 variants were identified, 7 of which are novel. The most prevalent variant was the nonsense variant c.3421C > T p.(Arg1141*) with an allele frequency of 18.5%. All patients exhibited ocular manifestations. Cutaneous manifestations were present in most patients (88.9%, n = 24/27). A PS score > E2 was strongly associated with worse visual acuity (B = -29.02; p = 0.001). No association was found between genotypic groups and cutaneous, vascular or cardiac manifestations. CONCLUSIONS: This study describes the genetic spectrum of patients with PXE for the first time in a Portuguese cohort. A total of 16 different variants in ABCC6 were found (7 of which are novel), thus highlighting the genotypic heterogeneity associated with this condition and expanding its mutational spectrum. Still, no major genotype-phenotype associations could be established.