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OBJECTIVE: To assess the impact of the updated ACR/EULAR APS classification criteria on two large research cohorts. METHODS: Consecutive patients who tested persistently positive for at least one aPL in the last three years were enrolled. The first APS Sydney index event was considered and computed for the comparison between Sydney and 2023 APS criteria. When computing the 2023 APS criteria, additional manifestations were also considered. RESULTS: The cohort comprised 249 patients (185 with APS and 64 aPL carriers according to Sydney criteria). The 185 patients had as first index event venous thrombosis in 55 cases (29.8%), arterial thrombosis in 63 (34%) and pregnancy morbidity in 67 (36.2%). When applying the updated criteria, 90 subjects (48.7%) failed to reach the composite score of the new criteria. The percentage of thrombotic APS per Sydney criteria decreased from 47.3% to 34.9% because of high cardiovascular risk in 23 cases, IgM aPL profile in six cases and in two patients for both reasons. Patients with pregnancy morbidity decreased from 26.9% to 3.2% (39 cases of recurrent early pregnancy loss and 20 of fetal losses). Consequently, the percentage of aPL carriers increased from 26% to 61%. When looking at the disease evolution at follow-up, 32 additional patients out of 90 (35.6%) fulfilled the new APS criteria, after developing additional clinical manifestation following index event. CONCLUSION: When applying the new APS criteria to our research cohorts, not-negligible differences exist in patients' classification. A multidisciplinary approach will be mandatory to assess the impact of the new criteria on research and, ultimately, patients' care.
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Síndrome Antifosfolipídica , Humanos , Feminino , Gravidez , Adulto , Masculino , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/classificação , Pessoa de Meia-Idade , Estudos de Coortes , Anticorpos Antifosfolipídeos/sangue , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/classificação , Trombose Venosa/classificação , Trombose Venosa/diagnóstico , Trombose/classificaçãoRESUMO
This cross-sectional study aimed to assess the association between drugs and alcohol intake and sexual abuse in adolescents, otherwise defined as Drug Facilitated Sexual Assault (DFSA). We considered the survivors who accessed care at the Centre "Soccorso Violenza Sessuale" (SVS - Sexual Violence Relief Centre) in Turin (Italy), between May 2003 and May 2022. We found that 973 patients aged 13-24 among which 228 were victims of DFSA. Epidemiological and anamnestic aspects of the episode of sexual violence were examined, with a specific focus on investigating the alcohol and/or drug intake as reported by the victim, along with the results of the toxicological analysis. the study further accounts for the variations caused by the COVID-19 pandemic on DFSA-related accesses. Our findings show that 23% of adolescents accessing care at SVS were subjected to DFSA. Six out ten adolescents knew their aggressor, at times a partner (10%) oran acquaintance (43%). In 12% of cases violence was perpetrated by a group of people (12%). Almost 90% of young victims described alcohol consumption, while 37% reported drug use at the time of the assault. Alcohol taken alone or in combination with other substances was the most detected drug in our sample throughout the period considered. Given the large use of psychoactive substances among adolescents, it is imperative to implement harm reduction strategies alongside educational activities aimed at fostering awareness about consent. Health personnel should be trained to manage the needs of victims of DFSA clinically and forensically.
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Consumo de Bebidas Alcoólicas , COVID-19 , Vítimas de Crime , Delitos Sexuais , Transtornos Relacionados ao Uso de Substâncias , Humanos , Itália/epidemiologia , Estudos Transversais , Adolescente , Feminino , Masculino , Adulto Jovem , Vítimas de Crime/estatística & dados numéricos , Delitos Sexuais/estatística & dados numéricos , Consumo de Bebidas Alcoólicas/epidemiologia , COVID-19/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologiaRESUMO
OBJECTIVES: To evaluate the safety and tolerability of belimumab given for 24 months in patients persistently positive for antiphospholipid antibodies (aPL) with clinical features attributable to aPL [refractory and/or non-criteria manifestations of the antiphospholipid syndrome (APS)]. METHODS: In this investigator-initiated, single-centre, open-label, prospective, phase II descriptive pilot trial, belimumab will be administered in 15 patients attending San Giovanni Bosco Hospital (Turin) showing refractory and/or non-criteria manifestations of APS. Subjects will receive belimumab 10 mg/kg intravenously (in addition to their ongoing APS treatment) with regimen at 0, 2, 4 weeks and every 4 weeks thereafter (up to week 104). Study endpoints determined at 4, 16, 24, 36, 52 and 104 weeks will include: primary (safety and adverse events) and secondary outcomes, such as changes in clinical outcomes (recurrent thromboses, thrombocytopenia, haemolytic anaemia, cardiovascular events, skin ulcer, aPL-related nephropathy and cognitive dysfunction), laboratory outcomes (routine tests, aPL, ENA and anti-dsDNA tests, thrombin generation assay, interferon-signature analysis, lymphocytes immunophenotyping, BLyS determination) and QoL evaluation. RESULTS: Study endpoints determined at 4, 16, 24, 36, 52 and 104 weeks will include: primary (safety and adverse events) and secondary outcomes, such as changes in clinical outcomes (recurrent thromboses, thrombocytopenia, haemolytic anaemia, cardiovascular events, skin ulcer, aPL-related nephropathy and cognitive dysfunction), laboratory outcomes (routine tests, aPL, ENA and anti-dsDNA tests, thrombin generation assay, interferon-signature analysis, lymphocytes immunophenotyping, BLyS determination) and QoL evaluation. CONCLUSIONS: Targeting B-cells is emerging as an appealing strategy for patients with APS. Preliminary observations showed aPL negativisation after starting therapy with belimumab. The clinical relevance of these findings will be investigated in this prospective study. If confirmed, the current 'anti-thrombotic' approach to APS patients could be complemented, at least in selected cases, with an 'immunomodulatory' strategy.
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Síndrome Antifosfolipídica , Trombose , Humanos , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/tratamento farmacológico , Síndrome Antifosfolipídica/complicações , Estudos Prospectivos , Projetos Piloto , Qualidade de Vida , Trombina/uso terapêutico , Trombose/complicações , Ensaios Clínicos Fase II como AssuntoRESUMO
BACKGROUND: Conflicts exacerbate dynamics of power and inequalities through violence normalization, which acts as a facilitator for conflict-related sexual violence. Literature addressing its negative outcomes on survivors is scant. The aim of this systematic review was to analyze the qualitative evidence reported in scientific literature and focusing on the negative consequences of conflict-related sexual violence on victims' physical, psychological, and social dimensions of health in a gender-inclusive and disaggregated form. METHODS: A literature search was conducted on January 13, 2023 on Pubmed, Scopus, and PsychArticles. The search strings combined two blocks of terms related to sexual violence and conflict. A time filter was applied, limiting the search to studies published in the last ten years. Information regarding the main characteristics and design of the study, survivors and their experience, and about conflict-related sexual violence was collected. The negative consequences of conflict-related sexual violence on the physical, psychological, and social dimension of victims were extracted according to the Biopsychosocial model of health. The review followed the Joanna Briggs Institute methodology for systematic reviews and relied on the Preferred Reporting Items for Systematic reviews and Meta-Analyses. RESULTS: After full text review, 23 articles met the inclusion criteria, with 18 of them reporting negative repercussions on physical health, all of them highlighting adverse psychological outcomes, and 21 disclosing unfavorable social consequences. The negative outcomes described in multiple studies were sexual and reproductive health issues, the most mentioned being pregnancy, manifestations of symptoms attributable to post-traumatic stress disorder, and stigma. A number of barriers to access to care were presented as emerging findings. CONCLUSIONS: This review provided an analysis of the negative consequences of conflict-related sexual violence on survivors, thus highlighting the importance of qualitative evidence in understanding these outcomes and addressing barriers to access to care. Conflict-related sexual violence is a sexual and reproductive health issue. Sexuality education is needed at individual, community, and provider level, challenging gender norms and roles and encompassing gender-based violence. Gender-inclusive protocols and services need to be implemented to address the specific needs of all victims. Governments should advocate for SRHRs and translate health policies into services targeting survivors of CRSV.
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Delitos Sexuais , Transtornos de Estresse Pós-Traumáticos , Gravidez , Feminino , Humanos , Violência , Comportamento Sexual , Sobreviventes/psicologiaRESUMO
BACKGROUND: Disasters have an unequal impact on the population because of differences in conditions of vulnerability, exposure, and capacity. Migrants and women are among the groups that are at greater risk for and disproportionately affected by disasters. However, despite the large body of evidence that analyzes their vulnerability separately, disaster research that targets migrant women is scant. The aim of this scoping review was to analyze the published scientific literature concerning the vulnerability of migrant women and the consequent negative impact they experience during disasters. METHODS: A literature search was conducted on December 15th, 2021 on Pubmed, Scopus, and Web of Science databases. No time filter was applied to the search. Information regarding the article's main characteristics and design, migrant women and their migration experience, as well as about the type of disaster was collected. The factors responsible for the vulnerability of migrant women and the negative outcomes experienced during a disaster were extracted and inductively clustered in main themes reflecting several vulnerability pathways. The review followed the Joanna Briggs Institute methodology for scoping reviews and relied on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). RESULTS: After full text review, 14 articles met the inclusion criteria. All of them adopted a qualitative methodology and focused on COVID-19. The pandemic negatively affected migrant women, by triggering numerous drivers that increased their level of exposure and vulnerability. Overall, six vulnerability factors have been identified: legal status, poverty conditions, pre-existing health conditions, limited agency, gender inequality and language and cultural barriers. These resulted in nine impacts: worsening of mental health status, poor access to care, worsening of physical health conditions, fraud, exacerbation of poverty, gender-based violence, jeopardization of educational path, and unfulfillment of their religious needs. CONCLUSIONS: This review provided an analysis of the vulnerability factors of migrant women and the pathways leading to negative outcomes during a disaster. Overall, the COVID-19 pandemic demonstrated that health equity is a goal that is still far to reach. The post-pandemic era should constitute the momentum for thoroughly addressing the social determinants of health that systematically marginalize the most vulnerable groups.
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COVID-19 , Desastres , Migrantes , Humanos , Feminino , Pandemias , Bases de Dados FactuaisRESUMO
OBJECTIVES: To investigate the rate of disease evolution in a cohort of patients with undifferentiated connective tissue disease (UCTD) and to determine clinical and immunological features more frequently associated with disease progression. METHODS: This retrospective single-centre long-term follow-up cohort study included patients with UCTD diagnosis, ANA positive, with a follow-up of at least 2 years. RESULTS: A total of 100 UCTD patients were recruited. During the follow-up (6.2±2.1 years), 44 patients (44%) developed novel clinical and/or laboratory features (rate of development patient/year of 7%), and 21 patients (21%) evolved into a definite connective tissue disease (CTD) after a mean time of 7±5.5 years with a rate of disease evolution (patient/year) of 3%. New clinical manifestations (39 patients) included: joints (36%), haematological (30%), cutaneous (13%), pulmonary (10%) and renal (10%) involvement. New laboratory findings (17 patients (17%)) included: 2 anti-ENA positivity, 3 anti-dsDNA antibodies positivity and 6 low complement levels. At follow-up, 13 patients (61.9%) met the classification criteria for systemic lupus erythematosus, 1 patient (4.8%) for mixed CTD, 5 patients (23.8%) for systemic sclerosis and 2 patients (9.5%) for Sjögren's syndrome. Patients evolving towards a new diagnosis had longer disease duration (15.2±9.7 years vs. 10±5.8 years; respectively, p<0.005), had a higher prevalence of anti-Ro/SSA antibodies (63.2% vs. 28.4%; respectively, p<0.05) and anti-RNP antibodies (21.1% vs. 7.4%; respectively, p<0.05). The statistical difference was also confirmed after the multivariate analysis. CONCLUSIONS: Up to 45% of UCTD patients might develop novel clinical and/or laboratory features during the follow-up, leading to evolution into a definite CTD in 1 out 5 cases.
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Doenças do Tecido Conjuntivo , Lúpus Eritematoso Sistêmico , Doenças do Tecido Conjuntivo Indiferenciado , Anticorpos Antinucleares , Doenças do Tecido Conjuntivo/diagnóstico , Seguimentos , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Estudos RetrospectivosRESUMO
Chronic kidney disease (CKD) is a widely diffuse pathological condition which deeply impacts upon an affected patient's quality of life and its worldwide rate is predicted to further rise. The main biological mechanism underlying CKD is renal fibrosis, a non-reversible process representing, for the affected system, a point of no return of tissue damage and dysfunction, deeply reducing the possible therapeutic strategies at the disposal of physicians. The best tool clinicians can use to address the extent of renal fibrosis at any level (glomeruli, tubule-interstitium, vasculature) is kidney biopsy that, despite its overall safety, remains an invasive procedure showing some shortcomings. Thus, the identification of novel non-invasive renal fibrosis biomarkers would be of fundamental importance. Here, when systematically reviewing the available evidence on serological biomarkers associated with renal fibrosis evaluated in patients suffering from CKD in the last five years, we found that despite the presence of several promising biomarkers, the level of observed evidence is still very scattered. Probably, the use of multiple measures capable of addressing different aspects involved in this condition would be the most suitable way to capture the high complexity characterizing the renal fibrotic process, having consequently a great impact on clinical practice by maximizing prevention, diagnosis, and management.
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Qualidade de Vida , Insuficiência Renal Crônica , Humanos , Fibrose , Biomarcadores , Insuficiência Renal Crônica/patologia , Glomérulos Renais/patologiaRESUMO
OBJECTIVES: To identify the aggregation of patients with aPL into different subgroups sharing common features in terms of clinical and laboratory phenotypes. METHODS: We applied a hierarchical cluster analysis from the multiple correspondence analysis to determine subgroups of patients according to clinical and laboratory characteristics in a cohort of subjects with confirmed aPL positivity who presented to our outpatient clinics from 2006 to 2018. RESULTS: A total of 486 patients [403 women; age 41.7 years (26)] were included, resulting in five clusters. Cluster 1 (n= 150) presented with thrombotic events (65.3% with venous thrombosis), with triple aPL positivity found in 34.7% of them (the highest rate among the different clusters). All the patients from cluster 2 (n = 91) had a confirmed diagnosis of SLE and the highest rate of anti-dsDNA positivity (91.7%). Cluster 3 included 79 women with pregnancy morbidity. Triple positivity was present in 3.8%, significantly lower when compared with Cluster 1 (34.7% versus 3.8%, P <0.01). Cluster 4 included 67 patients, 28 (41.8%) of whom with APS. Thrombotic events were observed in 23.9% patients. Cluster 4 had the highest rate of cytopenia, with thrombocytopenia as high 41.8% with no anti-dsDNA antibodies. Cluster 5 included 94 asymptomatic aPL carriers. CONCLUSION: While clusters 1, 2, 3 and 5 corresponded to well-known entities, cluster 4 might represent a bridging condition between pure primary APS and defined SLE, with lower thrombotic risk when compared with primary APS but higher general features such as ANA and cytopenia (mainly thrombocytopenia).
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Anticorpos Antifosfolipídeos/sangue , Adolescente , Adulto , Idoso , Anticorpos Anticardiolipina/sangue , Anticorpos Antinucleares/sangue , Síndrome Antifosfolipídica/imunologia , Análise por Conglomerados , Estudos de Coortes , Feminino , Humanos , Imunoglobulina G/imunologia , Imunoglobulina M/imunologia , Leucopenia/imunologia , Livedo Reticular/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Gravidez , Complicações na Gravidez/imunologia , Estudos Retrospectivos , Trombocitopenia/imunologia , Trombose/imunologia , Adulto JovemRESUMO
The clinical spectrum of the antiphospholipid syndrome (APS) encompasses additional manifestations other than thrombosis and pregnancy morbidity, which may potentially affect every organ and system. The pathophysiology of APS indeed cannot be explained exclusively by a prothrombotic state and the "extra-criteria" manifestations of the syndrome should be attributed to other mechanisms, such as inflammation, complement and platelet activation. In this case-series, we report patients with uncommon clinical APS presentations, to highlight relevant peculiarities of the syndrome, potentially paving the way for a further update of clinical as well as laboratory manifestations of this complex immunological condition.
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Anticorpos Antifosfolipídeos/imunologia , Síndrome Antifosfolipídica/fisiopatologia , Complicações na Gravidez/fisiopatologia , Aborto Espontâneo/etiologia , Adolescente , Adulto , Síndrome Antifosfolipídica/imunologia , Síndrome Antifosfolipídica/patologia , Síndrome Antifosfolipídica/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Complicações na Gravidez/imunologia , Fatores Sexuais , Trombose/etiologia , Adulto JovemRESUMO
OBJECTIVES: To validate the global antiphospholipid syndrome score (GAPSS) in a cohort of women with systemic lupus erythematosus (SLE) and antiphospholipid antibodies (aPL). METHODS: This retrospective study included 143 women ever pregnant with SLE who presented in our outpatient clinic were included. Data on cardiovascular risk factors and aPL status were retrospectively collected and their individual GAPSS score was calculated. RESULTS: Significantly higher GAPSS values were found in women with any placental medicated complication (such as foetal death, placental abruption, prematurity, pre-eclampsia or intrauterine growth restriction (IUGR)) (GAPSS 8.2±3.0 vs. 3.5±3.0, p<0.001). Significantly higher GAPSS values were also found in those with recurrent miscarriages (RM) <10 weeks, foetal death, placental abruption, prematurity, pre-eclampsia or IUGR) (GAPSS 8.3±4.5 vs. 3.2±2.6, p<0.001). Patients with 3 or more consecutive early miscarriages (<10 weeks), foetal death, miscarriage <10 weeks' gestation, premature birth (<34 weeks), pre-eclampsia (<34 weeks), stillbirth, and placental infarction had significantly higher GAPSS values compared to those without previous pregnancy complications. The odds ratio of having any pregnancy morbidity when having a GAPSS value ≥8 was 20 compared to those with a GAPSS of ≤1 (p<0.001). CONCLUSIONS: Women with a history of aPL-related pregnancy complications had higher GAPSS values in this retrospective cohort compared to women without pregnancy complications. This study is the first step to assess the clinical utility of the GAPSS score in pregnancy. A prospective validation is needed.
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Síndrome Antifosfolipídica , Lúpus Eritematoso Sistêmico , Complicações na Gravidez , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/epidemiologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Placenta , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Estudos RetrospectivosRESUMO
Antiphospholipid syndrome (APS) is the most common acquired thrombophilia. The clinical manifestations of APS are mainly vascular thrombosis (venous and/or arterial) and/or recurrent pregnancy morbidity with the concomitant persistent presence of antiphospholipid antibodies (aPL). Therefore, the goals of the treatment of patients with APS are reducing the pregnancy morbidity and/or the prevention of thrombotic events during the follow-up. Optimal treatment of APS has long been discussed, due to the heterogeneity of the clinical manifestations and the consequent plurality in the medical specialties involved in managing this condition. This review summarizes the available evidence on primary thromboprophylaxis in aPL-positive individuals with no prior thrombotic events, secondary prophylaxis in patients with positive history for thrombotic events, the management of refractory or difficult cases and the current strategies for the management of APS during pregnancy.
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Síndrome Antifosfolipídica/tratamento farmacológico , Trombose/prevenção & controle , HumanosRESUMO
OBJECTIVES: To investigate fetal/perinatal and maternal outcomes from a large multicentre cohort of women diagnosed with UCTD. METHODS: This multicentre retrospective cohort study describes the outcomes of 224 pregnancies in 133 consecutive women with a diagnosis of UCTD, positive for ANA and aged <45 years old at study inclusion. RESULTS: Of the 224 pregnancies analysed, 177 (79%) resulted in live births, 45 (20.1%) in miscarriages (defined as pregnancy loss before 12 weeks' gestation), 2 (0.9%) in stillbirths (pregnancy loss after 20 weeks' gestation) and 6 (2.7%) cases showed intrauterine growth restriction. Miscarriages and stillbirths were strongly associated with the presence of aPL and ENA antibodies (P < 0.05). Maternal pregnancy complications were as follows: 5 (2.2%) cases developed pre-eclampsia, 11 (4.9%) cases gestational hypertension and 12 (5.4%) cases gestational diabetes. Joint involvement represented the most frequent clinical manifestation of the cohort (57.9%), followed by RP (40.6%), photosensitivity (32.3%) and haematological manifestations (27.1%). The rate of disease evolution of our cohort from a diagnosis of UCTD to a diagnosis of definite CTD was 12% within a mean time of 5.3 ± 2.8 years. With a total follow-up after first pregnancy of 1417 patient-years, we observed the evolution to a defined CTD in one out of every 88 patient- years. CONCLUSION: In our multicentre cohort, women with UCTD had a live birth rate of 79%. Women with UCTD should be referred to specialist follow-up when planning a pregnancy. ENA profiling and aPL testing should be mandatory in this setting, and further therapeutic approaches and management should be planned accordingly.
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Autoanticorpos/sangue , Complicações na Gravidez/etiologia , Resultado da Gravidez/epidemiologia , Doenças do Tecido Conjuntivo Indiferenciado/complicações , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Adulto , Anticorpos Antinucleares/sangue , Anticorpos Antinucleares/imunologia , Anticorpos Antifosfolipídeos/sangue , Anticorpos Antifosfolipídeos/imunologia , Autoanticorpos/imunologia , Feminino , Retardo do Crescimento Fetal/epidemiologia , Retardo do Crescimento Fetal/etiologia , Humanos , Nascido Vivo/epidemiologia , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/imunologia , Estudos Retrospectivos , Natimorto/epidemiologia , Doenças do Tecido Conjuntivo Indiferenciado/sangue , Doenças do Tecido Conjuntivo Indiferenciado/imunologiaRESUMO
As in many autoimmune diseases, the pathogenesis of the antiphospholipid syndrome (APS) is the result of a complex interplay between predisposing genes and triggering environmental factors, leading to a loss of self-tolerance and immune-mediated tissue damage. While the first genetic studies in APS focused primarily on the human leukocytes antigen system (HLA) region, more recent data highlighted the role of other genes in APS susceptibility, including those involved in the immune response and in the hemostatic process. In order to join this intriguing debate, we analyzed the single-nucleotide polymorphisms (SNPs) derived from the whole exome sequencing (WES) of two siblings affected by APS and compared our findings with the available literature. We identified genes encoding proteins involved in the hemostatic process, the immune response, and the phospholipid metabolism (PLA2G6, HSPG2, BCL3, ZFAT, ATP2B2, CRTC3, and ADCY3) of potential interest when debating the pathogenesis of the syndrome. The study of the selected SNPs in a larger cohort of APS patients and the integration of WES results with the network-based approaches will help decipher the genetic risk factors involved in the diverse clinical features of APS.
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Síndrome Antifosfolipídica/genética , Síndrome Antifosfolipídica/metabolismo , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Alelos , Anticorpos Antifosfolipídeos/genética , Anticorpos Antifosfolipídeos/imunologia , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Biologia Computacional/métodos , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Trombose/etiologia , Sequenciamento do ExomaRESUMO
OBJECTIVES: A low C4 level is one of the hallmarks of mixed cryoglobulinaemia (MC). However, several reports suggest that other factors may be involved in C4 depletion. The C4 gene is located in a multiallelic CNV locus in the human MHC region. We studied the C4 gene copy number (GCN) and both C4A and C4B isotypes, as well as the presence of the hypofunctional C4A6 allotype (rs41315824) and C4A0 allotype (rs367709216) in 41 MC patients, 16 SLE patients and 78 healthy controls. METHODS: GCN of the C4 gene were evaluated by real time PCR. C4A6 allotype (p.Arg458Trp) and ins 2-bp mutation in exon 29 were screened by primer extension. Correlation with clinical signs of the disease (cutaneous ulcers, peripheral neuropathy, GN, purpura, hepatitis) have been performed by cluster analysis, (K-means algorithm). RESULTS: C4 GCN analysis showed that fewer MC patients had more than 2 copies of the C4A gene as well as a lower C4A gene-copy index (1.90 ± 0.54 vs. 2.21 ± 0.78) as compared to healthy controls. SNP rs41315824 analysis showed a significant increase in the frequency of the p.Arg458Trp (C4A6) variant in cryoglobulinaemic patients. Lastly, cluster analysis allowed us to identify two separate clusters of patients. The cluster that included patients with three or less C4 gene copies was found to have a greater prevalence of the most severe complications such as glomerulonephritis, neuropathy and severe cutaneous ulcers. CONCLUSIONS: These data suggest there may be a relationship between polymorphisms of the C4 gene and clinical presentation.
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Complemento C4/genética , Crioglobulinemia/imunologia , Idoso , Idoso de 80 Anos ou mais , Crioglobulinemia/genética , Feminino , Dosagem de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoAssuntos
Anticorpos Antifosfolipídeos/sangue , Síndrome Antifosfolipídica/sangue , Medição de Risco/estatística & dados numéricos , Trombose/imunologia , Adulto , Síndrome Antifosfolipídica/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Medição de Risco/métodosRESUMO
Conflict-related sexual violence (CRSV) is a form of gender-based violence and a violation of human rights. Forensic medical examination of victims of CRSV can be performed for the clinical and forensic management of patients or as part of the medical affidavit in judicial protection procedures. The aim of this scoping review was to summarize the knowledge on the forensic medical examination of survivors of CRSV by analyzing what types of violence were described by survivors, as well as the outcome of medical examination and evaluation of the degree of consistency, and of protection procedures. After the screening process, 17 articles published between January 1st, 2013, and April 3rd, 2023, on PubMed, Scopus, and Web of Science were eligible for inclusion. The findings of our review confirm that literature addressing forensic medical examination of victims of CRSV is scarce, as well as studies describing physicians' opinion on the consistency of the findings and protection outcomes. Trained and experienced professionals are needed in order to document human rights violations, including CRSV-specific lesions.
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Vítimas de Crime , Exame Físico , Delitos Sexuais , Humanos , Medicina LegalRESUMO
Introduction: The Sexual Violence Relief center Soccorso Violenza Sessuale (SVS) is a specialist service, situated in Sant'Anna Hospital, an Obstetrics and Gynecology facility in Turin, North-West Italy. The study aimed to qualitatively analyze the transcripts of interviews routinely conducted by gynecologist and midwife in the first part of the medical examination of migrant patients accessing care at SVS after being subjected to conflict-related sexual violence (CRSV) in their home country or during migration and to explore the adverse outcomes of such violence on their health. Methods: Interview transcripts were purposely selected to include adult migrant patients (age > 18) subjected to CRSV in the different phases of migration and accessing SVS from January 1st, 2014, to September 4th, 2023. Data was extracted from the SVS archive, anonymized, and thematically analyzed. Results and discussion: In total, 43 interview transcripts were eligible for inclusion. All of them were related to cisgender women of Sub-Saharan origin describing different forms of violence as a driver for migration. CRSV was disclosed by 18 survivors as occurring in their home country and by 31 in transit (e.g., Libya), the most reported type being rape. 49% of the patients described adverse physical outcomes of CRSV, while 72% reported psychological sequelae. The findings confirm high levels and different modalities of violence throughout the migratory route. Qualitative analysis of interview transcripts served as a valuable source for understanding how survivors described the CRSV they endured, its consequences, as well as other violence encountered during migration.
RESUMO
INTRODUCTION: Armed conflicts have a severe impact on the health of women and children. Global health emergencies such as pandemics and disease outbreaks further exacerbate the challenges faced by vulnerable populations in accessing maternal, neonatal, and child healthcare (MNCH). There is a lack of evidence that summarizes the challenges faced by conflict-affected pregnant women, mothers, and children in accessing MNCH services during global health emergencies, mainly the Ebola and COVID-19 pandemics. This scoping review aimed to analyze studies evaluating and addressing barriers to accessing comprehensive MNCH services during Ebola and COVID-19 emergencies in populations affected by conflict. METHODS: The search was conducted on PubMed, Scopus, and Web of Science databases using terms related to Ebola and COVID-19, conflicts, and MNCH. Original studies published between 1990 and 2022 were retrieved. Articles addressing the challenges in accessing MNCH-related services during pandemics in conflict-affected settings were included. Thematic analysis was performed to categorize the findings and identify barriers and solutions. RESULTS: Twenty-nine studies met the inclusion criteria. Challenges were identified in various MNCH domains, including antenatal care, intrapartum care, postnatal care, vaccination, family planning, and the management of childhood illnesses. Ebola-related supply-side challenges mainly concerned accessibility issues, health workforce constraints, and the adoption of stringent protocols. COVID-19 has resulted in barriers related to access to care, challenges pertaining to the health workforce, and new service adoption. On the demand-side, Ebola- and COVID-19-related risks and apprehensions were the leading barriers in accessing MNCH care. Community constraints on utilizing services during Ebola were caused by a lack of trust and awareness. Demand-side challenges of COVID-19 included fear of disease, language barriers, and communication difficulties. Strategies such as partnerships, strengthening of health systems, service innovation, and community-based initiatives have been employed to overcome these barriers. CONCLUSION: Global health emergencies amplify the barriers to accessing MNCH services faced by conflict-affected populations. Cultural, linguistic, and supply-side factors are key challenges affecting various MNCH domains. Community-sensitive initiatives enhancing primary health care (PHC), mobile clinics, or outreach programs, and the integration of MNCH into PHC delivery should be implemented. Efforts should prioritize the well-being and empowerment of vulnerable populations. Addressing these barriers is crucial for achieving universal health coverage and the Sustainable Development Goals.