Search Results (16,302)

Background: Varicella remains a prevalent vaccine-preventable disease, but breakthrough infections are increasingly reported. However, long-term, population-based studies investigating the temporal and demographic characteristics of breakthrough varicella remain limited. Methods: This retrospective study analyzed surveillance data from Jinhua City, China, from 2016 to 2024. Varicella case records were obtained from the China Information System for Disease Control and Prevention (CISDCP), while vaccination data were retrieved from the Zhejiang Provincial Immunization Program Information System (ISIS). Breakthrough cases were defined as infections occurring more than 42 days after administration of the varicella vaccine. Differences in breakthrough interval were analyzed across subgroups defined by dose, sex, age, population category, and vaccination type. A bivariate cubic regression model was used to assess the combined effect of initial vaccination age and dose interval on the breakthrough interval. Results: Among 28,778 reported varicella cases, 7373 (25.62%) were classified as breakthrough infections, with a significant upward trend over the 9-year period (p < 0.001). Most cases occurred in school-aged children, especially those aged 6–15 years. One-dose recipients consistently showed shorter breakthrough intervals than two-dose recipients (M = 62.10 vs. 120.10 months, p < 0.001). Breakthrough intervals also differed significantly by sex, age group, population category, and vaccination type (p < 0.05). Regression analysis revealed a negative correlation between the initial vaccination age, the dose interval, and the breakthrough interval (R² = 0.964, p < 0.001), with earlier and closely spaced vaccinations associated with longer protection. Conclusions: The present study demonstrates that a two-dose varicella vaccination schedule, when initiated at an earlier age and administered with a shorter interval between doses, provides more robust and longer-lasting protection. These results offer strong support for incorporating varicella vaccination into China’s National Immunization Program to enhance vaccine coverage and reduce the public health burden associated with breakthrough infections. Full article

Background: Chemical eye burns are a serious ophthalmic emergency that can lead to permanent vision loss in severe cases. This study aims to evaluate structural changes in the posterior segment of the eye in individuals who have experienced chemical burns. Methods: The study included 64 eyes from 54 patients with chemical burns (chemical burn group) and 87 healthy eyes from 87 subjects (control group), matched by age and sex. Patients had confirmed burns with limbal ischemia, no glaucoma, normal intraocular pressure, and no major ocular or systemic diseases. Burned eyes were examined during the acute phase and again at 3 months, with some followed up at 6 months if significant retinal asymmetry was detected. Retinal nerve fiber layer (RNFL) thickness was assessed in four quadrants, and ganglion cell complex (GCL++) thickness was analyzed using automated segmentation of optical coherence tomography (OCT) maps. Results: This study compared measurements between the burn group, the control group, and timepoints. OCT analysis revealed no significant difference in total RNFL thickness between burn patients and controls (mean difference: −1.14 µm, 95% CI: −3.92 to 1.64). Similarly, GCL++ thickness did not differ significantly between groups (mean difference: −0.97 µm, 95% CI: −3.31 to 1.37). At 6-month follow-up, a non-significant decline in both RNFL and GCL++ thicknesses was observed. Logistic regression identified higher Dua grade as an independent predictor of RNFL thinning (OR: 4.816, 95% CI: 1.103–21.030; p = 0.037). Patients with severe ocular chemical burns (Dua grade ≥ 3) demonstrated reduced RNFL thickness in all quadrants compared to healthy controls. The most pronounced reductions were observed in the nasal and superior quadrants (p = 0.007 and p = 0.069, respectively); however, after applying Bonferroni correction for multiple comparisons, only the difference in the nasal quadrant remained statistically significant (adjusted p = 0.035). Conclusions: Although overall RNFL and GCL++ thicknesses did not differ significantly between burn patients and healthy controls, patients with severe ocular chemical burns (Dua grade ≥ 3) showed a significant reduction in RNFL thickness, in the nasal quadrant. Higher Dua grade was identified as an independent predictor of RNFL thinning. These findings suggest a potential association between burn severity and posterior segment changes, highlighting the need for further longitudinal studies with larger cohorts. Full article

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04–0.59]/p = 0.004, 0.09 [95% CI 0.01–0.62]/p = 0.008 and 0.23 [95% CI 0.06–0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases. Full article

Variants in COL4A3 and COL4A4 cause autosomal dominant and recessive Alport syndrome, yet data on their distribution and clinical expression in different populations remain limited. This study investigated genotype–phenotype correlations and the distribution of COL4A3/COL4A4 variants in a Lithuanian Alport syndrome cohort. A total of 221 individuals from Lithuania were analyzed for COL4A3 and COL4A4 variants using either next-generation sequencing or Sanger sequencing in order to assess variant distribution and associated clinical features. Only individuals with pathogenic, likely pathogenic, or uncertain significance variants were included. Fifty-two individuals (38 index cases) with pathogenic, likely pathogenic, or variants of uncertain significance were identified, as follows: forty-eight were heterozygous, four had autosomal recessive, and four had digenic Alport syndrome. COL4A3 variants were found in 9.5% (21/221) and COL4A4 in 17.6% (39/221). Among the 28 identified variants, 18 were novel. Glycine substitutions (n = 8) were the most frequent and associated with worse kidney outcomes and increased hearing abnormalities. Hematuria was diagnosed significantly earlier than proteinuria (p = 0.05). Most individuals with autosomal dominant Alport syndrome had normal kidney function (eGFR > 90 mL/min/1.73 m²), while those with autosomal recessive Alport syndrome had more severe disease. Kidney failure occurred in 2/4 (50%) autosomal recessive Alport syndrome and 2/48 (4%) autosomal dominant Alport syndrome cases. A significant inverse correlation was found between eGFR and age in proteinuric individuals (r = –0.737; p = 0.013). This study expands knowledge of Alport syndrome in the Lithuanian population and contributes novel variant data to the global Alport syndrome genetic database. Full article

Background: Type 2 diabetes mellitus (T2DM) increases sepsis risk due to immune dysfunction and chronic inflammation. Antidiabetic medications, while primarily used for glycemic control, may modulate sepsis susceptibility through immune and inflammatory pathways. This study investigates the association between antidiabetic medication use and sepsis risk in T2DM patients. Methods: A longitudinal cohort study was conducted using clinical registry data from 5009 T2DM patients at the University Hospital, Debrecen, Hungary (2016–2020). Sepsis cases were identified via ICD-10 code A41, and antidiabetic medication use was categorized using ATC codes. Baseline comorbidities and laboratory parameters were extracted. Chi-square and Wilcoxon rank–sum tests assessed associations between sepsis and categorical/numerical variables, respectively. Time-adjusted multivariate logistic regression evaluated predictors of sepsis risk, with odds ratios (ORs) and 95% confidence intervals (CIs) reported. Results: Age, hypertension, ischemic heart disease, nephropathy, elevated blood glucose, C-reactive protein, and creatinine also independently increased sepsis risk. Insulin use was associated with a 2.6-fold increased sepsis risk (OR = 2.6, 95% CI: 2.09–3.34, p < 0.001), while SGLT2 inhibitors (OR = 0.56, 95% CI: 0.34–0.91, p = 0.02) and GLP-1 receptor agonists (OR = 0.39, 95% CI: 0.19–0.79, p = 0.009) were protective. Conclusions: Insulin-treated patients may require closer infection monitoring, while SGLT2 inhibitors and GLP-1 RAs could be prioritized in high-risk individuals. These findings highlight the potential to inform risk stratification and guide personalized antidiabetic therapy to reduce sepsis risk in T2DM. Full article

Helicobacter pylori is a well-established causative agent of gastritis, peptic ulcers, gastric adenocarcinoma, and primary gastric lymphoma. It colonizes the human stomach and expresses numerous virulent factors that influence disease progression. Among these factors is the cytotoxin vacA gene, which encodes the vacuolating capacity of the cytotoxin and plays a key role in the bacterium’s pathogenic potential. This study investigated the allelic diversity of the vacA among H. pylori strains infecting patients in Jordan with various gastric conditions and examined potential associations between vacA s-and m- genotypes, histopathological and endoscopic findings, and the development of gastric diseases. Gastric biopsies were collected from 106 patients at two hospitals in Jordan who underwent endoscopic examination. The collected biopsies for each patient were subjected to histopathological assessment, urease detection using the Rapid Urease Test (RUT), a diagnostic test for H. pylori, and molecular detection of the vacA gene and its s and m alleles. The histopathology reports indicated that 83 of 106 patients exhibited gastric disorders, of which 81 samples showed features associated with H. pylori infection. The RUT was positive in 76 of 106 with an accuracy of 93.8%. Real-time polymerase chain reaction (RT-PCR) targeting the 16S rRNA gene confirmed the presence of H. pylori in 79 of 81 histologically diagnosed cases as infected (97.5%), while the vacA gene was detected only in 75 samples (~95%). To explore genetic diversity, PCR-amplified fragments underwent sequence analysis of the vacA gene. The m-allele was detected in 58 samples (73%), the s-allele was detected in 45 (57%), while both alleles were not detected in 13% of samples. The predominant genotype combination among Jordanians was vacA s2/m2 (50%), significantly linked to mild chronic gastritis, followed by s1/m2 (35%) and s1/m1 (11.8%) which are linked to severe gastric conditions including malignancies. Age-and gender-related differences in vacA genotype were observed with less virulent s2m2 and s1m2 genotypes predominating in younger adults specially males, while the more virulent m1 genotypes were found exclusively in females and middle-aged patients. Genomic sequencing revealed extensive diversity within H. pylori, likely reflecting its long-standing co-evolution with human hosts in Jordan. This genetic variability plays a key role in modulating virulence and influencing clinical outcomes. Comprehensive characterization of vacA genotypic variations through whole-genome sequencing is essential to enhance diagnostic precision, strengthen epidemiological surveillance, and inform targeted therapeutic strategies. While this study highlights the significance of the vacA m and s alleles, future research is recommended in order to investigate the other vacA allelic variations, such as the i, d, and c alleles, to achieve a more comprehensive understanding of H. pylori pathogenicity and associated disease severity across different strains. These investigations will be crucial for improving diagnostic accuracy and guiding the development of targeted therapeutic strategies. Full article

Background/Objective: Executive functions (EFs) are essential in the daily management of arthritis, as they influence treatment adherence, decision-making, and the ability to cope with disease-related challenges. The objective of this study was to compare EFs alongside functional status and quality of life in patients with rheumatoid arthritis (RA) and psoriatic arthritis (PsA) and examine their associations with disease activity and clinical variables. Methods: In this cross-sectional study, 140 patients (70 RA, 70 PsA) were assessed using the Stroop-TBAG, Wisconsin Card Sorting Test (WCST), and Adult Executive Functioning Inventory (ADEXI). Functional status and quality of life were measured with the Health Assessment Questionnaire (HAQ) and WHOQOL-BREF, respectively. Correlations with disease activity (DAS28-CRP), age, and disease duration were examined. Results: RA patients had significantly higher disease activity and longer disease duration. They showed poorer performance on the Stroop Test (color–word time: 61.6 ± 14.8 vs. 52.4 ± 10.9 s, p < 0.001; errors: 3.2 ± 2.1 vs. 2.1 ± 1.5, p = 0.001), more WCST perseverative errors (p = 0.002), and higher ADEXI inhibition scores (13.9 ± 2.5 vs. 12.9 ± 3.0, p = 0.013). DAS28-CRP was correlated with EF impairments, disability, and poorer quality of life in RA (p < 0.05). In PsA, EFs remained relatively stable, although higher disease activity was associated with worse HAQ scores (p = 0.001). Treatment type was not linked to EF, but patients on combination therapy reported lower physical (p = 0.009) and psychological (p = 0.014) quality of life, along with higher HAQ scores (p = 0.016). Conclusions: This study revealed that patients with RA exhibit more pronounced executive dysfunction, along with lower ADL skills and quality of life compared to those with PsA. These findings highlight the need for multidimensional assessment strategies in inflammatory arthritis, especially in RA, where cognitive and functional outcomes are closely tied to clinical burden. Full article

Background: Alcohol-associated liver disease (AALD) represents significant health burdens worldwide. This study aims to provide a comprehensive overview of the AALD outcomes that were incompletely understood. Methods: The current study utilizes data from the National Health and Nutrition and Examination Survey (NHANES) from 2011–2020, using a stratified, multistage probability cluster design. AALD in the NHANES was defined using clinical laboratory data and self-reported alcohol use, among which fibrosis-4 score of >2.67. Analysis is conducted using weighted, logistic, and Cox linear regression. Results: The initial sample included 23,206 participants aged 20 and older, with recorded cardiovascular status and AST/ALT levels. Participants reporting AALD had a higher percentage of college degrees (p < 0.001) and were more likely to be daily smokers. Asians exhibited the highest rates of AALD compared to other demographics (p < 0.001). The prevalence in private insurance is significantly greater than Medicaid, but the usage trends have been increasing in Medicaid. The trends of advanced fibrosis have been increasing in blacks and Asians, while they have been decreasing among whites and Mexicans. Those with AALD also had higher mean systolic and diastolic blood pressure, as well as elevated fasting glucose levels (p < 0.001). The mortality rate among AALD participants with heart diseases was 25%, compared to 3% among those without (p < 0.001). After adjusting for potential confounding variables, no statistically significant associations were found between AALD status and HF or CAD. However, a clinically significant increase in the odds of stroke was observed within the AALD group (p < 0.001). Conclusions: Our findings indicate Asians have the highest rates of AALD. The trends of advanced fibrosis have been increasing in blacks and Asians. There is an increased prevalence of AALD with heart diseases and a significant increase in mortality with stroke. Full article

Background: Arteriovenous fistulas (AVFs) may contribute to cardiac remodeling and consequently to an increased risk of heart failure and cardiovascular mortality in patients with end-stage kidney disease (ESKD). We aimed to assess cardiac changes following AVF creation and identify potential parameters associated with cardiac remodeling. Methods: In our prospective, single-center study, ESKD patients without significant pre-existing cardiac disease underwent 2D and 3D echocardiographic evaluation before and after AVF creation, along with AVF flow measurement. Cardiac remodeling was assessed using 3D indexed left and right ventricular end-diastolic volumes (LVEDVi, RVEDVi), while systolic function was assessed using longitudinal strain and 3D ejection fraction. Results: We included 20 patients (18 men; median age 73.5 years [IQR: 67–77]) with a mean AVF flow of 1140 ± 345 mL/min. At a median of 8.2 months (IQR: 7.3–9.3) following AVF creation, significant biventricular dilatation was observed: LVEDVi increased from 89 ± 14 to 97 ± 21 mL/m² (p < 0.05) and RVEDVi from 80 ± 15 to 91 ± 18 mL/m² (p < 0.05), while the systolic function of both ventricles did not change significantly. The right ventricle showed the most pronounced remodeling and it was independently associated with volume overload (p = 0.003) and elevated left ventricular filling pressure (p = 0.030), but not with AVF flow. Conclusions: Moderate AVF flow was associated with cardiac remodeling, primarily affecting the right ventricle. Fluid overload and left ventricular filling pressure were key factors associated with right ventricular remodeling, underscoring the need for careful fluid management and vascular access planning in ESKD patients. Full article

Background: Visual impairment (VI) continues to be a significant global public health concern, especially in underserved rural communities. Objectives: This study aims to assess the prevalence of VI and refractive errors, as well as to identify the causes and risk factors associated with VI in Duhknah, a rural area in Qassim Province, Saudi Arabia. Methods: This cross-sectional study, conducted in May 2024, included 929 participants aged 6–90 years from Duhknah, a rural area in Qassim Province, Saudi Arabia. Refractive errors (REs) were measured using a non-cycloplegic autorefractometer. Anterior and posterior eye examinations were performed using slit lamp biomicroscopy, direct ophthalmoscopy, and 90 D fundus biomicroscopy. VI was classified based on the International Classification of Diseases 11th revision (ICD-11), 2018. Results: The findings revealed that 671 (72.2%) participants had never undergone an eye examination. The overall prevalence of presenting VI was 370 (39.8%), comprising 21.6% with mild VI, 11.0% moderate, 4.1% severe, and 3.1% classified as blind. The prevalence of hyperopia, myopia, and astigmatism was 20.6%, 36.9%, and 13.2%, respectively. Uncorrected REs were the most common cause of VI (81.4%), followed by amblyopia (13.5%) and cataracts (3.2%). Regression analysis showed that women had 1.58 times higher odds of VI (p = 0.001). Participants with eye examinations for one year or more had 3.64 times higher odds (p < 0.001). Additionally, the risk of VI was significantly lower among older participants (ages 18–90) compared to younger ones (ages 6–17), (p < 0.001). Conclusions: This study found most participants had never had an eye exam, and VI was highly prevalent in the rural community. These findings underscore the need to strengthen primary eye care in rural Saudi Arabia. Regular vision screening, particularly for children, and better access to refractive services could significantly reduce VI and support the goals of Saudi Vision 2030. Full article

Background/Objectives: Heart failure with preserved ejection fraction (HFpEF) has increased in prevalence as the population ages and associated comorbidities increase. Remote ischemic preconditioning (RIPC) has been shown to provide protection against ischemic injury to the heart and other organs. Therefore, the aim of this project will be to analyse the effectiveness of RIPC in terms of arterial stiffness, endothelial function, diastolic function, and exercise capacity in patients with HFpEF. Methods: The PIRIC-FEp study will be a parallel, randomised controlled trial with two groups conducted at the Faculty of Nursing in Cuenca, University of Castilla-La Mancha. Individuals who are diagnosed with HFpEF and are older than 40 years, with a left ventricular ejection fraction ≥50% and a sedentary lifestyle, will be included. The exclusion criteria will include, among others, patients with noncardiac causes of heart failure symptoms, significant pulmonary disease, diabetes, peripheral vascular disease, or myocardial infarction within the previous three months. A sample size of 48 patients was estimated, with 24 for each group. Participants will be randomly allocated (1:1) to either the RIPC intervention group or the control group to evaluate the effects on arterial stiffness, endothelial function, diastolic function, and exercise capacity. Assessments will be conducted at baseline and after a three-month follow-up period. Results: The findings will be published in a peer-reviewed journal article. Conclusions: This study is important for daily clinical practice because it provides a new approach for the treatment of HFpEF patients via RIPC. Full article

Background/Objectives: Adolescence is a critical period for the early detection of metabolic syndrome (MetS), a condition that increases the risk of cardiometabolic diseases in adulthood. Timely identification of at-risk adolescents enables targeted prevention strategies. This study aimed to analyze the discriminative capacity and accuracy of six biochemical and/or anthropometric indices related to lipid metabolism and adiposity for the early detection of MetS in a sample of Spanish adolescents. Methods: A cross-sectional study carried out according to the STROBE guidelines. A sample of 981 adolescents aged 11–16 years old were randomly recruited from schools in Southeastern Spain. The presence or absence of MetS was determined according to the International Diabetes Federation criteria. The following biochemical and/or anthropometric indices were evaluated: triglyceride glucose index, visceral adiposity index, logarithm children’s lipid accumulation product, triglyceride glucose-body mass index, triglyceride glucose-waist circumference, and triglyceride glucose-waist-to-hip ratio. Results: The triglyceride glucose-waist-to-hip ratio and triglyceride glucose-body mass index parameters were the strongest indicators associated with MetS in boys and girls, respectively, after adjusting for several factors. Moreover, all evaluated indices showed optimal AUC values, with the visceral adiposity index and triglyceride glucose-waist circumference index exhibiting the highest discriminative capacity in both genders. Conclusions: The evaluated biochemical and anthropometric indices—particularly visceral adiposity index and triglyceride-glucose-waist circumference—show promise as accessible biomarkers for identifying adolescents at metabolic risk. These indices may serve as practical tools in preventive health strategies aimed at improving metabolic health by screening adolescents at risk of MetS, thereby helping to reduce the future burden of non-communicable diseases. Full article

Cigarette smoking is acknowledged as the most preventable risk factor for thrombogenesis-associated cardiovascular disease. Mice prenatally exposed to the thirdhand smoke (THS) form of tobacco exhibited a higher tendency to develop occlusive thrombosis, along with enhancement of several platelet functional responses. Our objective was to investigate whether prenatal (in utero) THS exposure impacts the platelet transcriptome, resulting in enhanced platelet functional responses, thereby underlying THS-associated thrombogenicity. Blood samples obtained from twenty male mice prenatally exposed to THS, along with an equal number of age-matched male mice exposed to clean air (CA) as a control, were divided into pools of five animals and used to prepare leukocyte and red blood cell-depleted platelets. RNA sequencing for mRNA and microRNA (miRNA) was utilized to analyze and compare the platelet expression profiles of the two exposure groups. RNA seq analyses revealed distinct changes in both gene expression and miRNA profiles, with 448 coding genes and 18 miRNAs significantly altered between the two groups. miRNA–mRNA interaction analysis highlighted 14 differentially expressed miRNAs that potentially target 120 of the differentially expressed genes in our data set. Interestingly, altered genes in miRNA–mRNA pairs were functionally enriched into pathways associated with platelet physiology, including platelet activation, signaling and aggregation, and cellular response to chemical stimuli. Our findings establish—for the first time—that prenatal exposure to THS modifies the platelet transcriptome, thereby rendering platelets hypersensitive to stimuli and more prone to thrombogenicity. Additionally, we illuminate the coordinated function of platelet miRNA and mRNA targets in mediating this response. Full article

Background/Objectives: We aimed to identify questionnaire items associated with an increased risk of developing hepatic steatosis in the general population. Methods: A total of 15,063 individuals aged ≥20 years who underwent general health checkups and had no hepatic steatosis at baseline were included. The relationship between questionnaire data at baseline and hepatic steatosis incidence over a median 4.2-year follow-up was investigated across body mass index (BMI) categories. Results: Among 15,063 individuals (mean [SD] age, 47.1 [10.2] years; 6769 [44.9%] male; mean [SD] BMI, 21.4 [2.6] kg/m²), 1889 individuals (12.5%) developed hepatic steatosis during follow-up. After adjusting for age, sex, and factors related to metabolic diseases and liver injury, the strongest questionnaire-based risk factor for hepatic steatosis was self-reported weight gain of 10 kg or more after the age of 20 across all BMI categories: total population (hazard ratio [HR], 2.11; 95% confidence interval [CI], 1.90–2.34; p < 0.001), Category 1 (BMI < 22) (HR, 2.33; 95% CI, 1.86–2.91; p < 0.001), Category 2 (BMI 22 to <25) (HR, 1.43; 95% CI, 1.25–1.63; p < 0.001), and Category 3 (BMI ≥ 25) (HR, 1.41; 95% CI, 1.12–1.77; p = 0.003). Conclusions: In this cohort study, self-reported weight gain of 10 kg or more after the age of 20 was associated with an increased risk of hepatic steatosis, independent of baseline BMI. Questionnaires capturing weight gain history may support universal screening efforts to identify individuals at elevated risk. Full article

Background: Endometriosis is a chronic inflammatory condition affecting 10–15% of women of reproductive age. Genome-wide association studies (GWASs) have accounted for only a fraction of its high heritability, indicating the need for alternative approaches to identify rare genetic variants contributing to its etiology. To this end, we performed whole-exome sequencing (WES) in a multi-affected family. Methods: A multigenerational family was studied, comprising three sisters, their mother, grandmother, and a daughter, all diagnosed with endometriosis. WES was conducted on the three sisters and their mother. We used the enGenome-Evai and Varelect software to perform our analysis, which mainly focused on rare, missense, frameshift, and stop variants. Results: Bioinformatic analysis identified 36 co-segregating rare variants. Six missense variants in genes associated with cancer growth were prioritized. The top candidates were c.3319G>A (p.Gly1107Arg) in the LAMB4 gene and c.1414G>A (p.Gly472Arg) in the EGFL6 gene. Variants in NAV3, ADAMTS18, SLIT1, and MLH1 may also contribute to disease onset through a synergistic and additive model. Conclusions: We identified novel candidate genes for endometriosis in a multigenerational affected family, supporting a polygenic model of the disease. Our study is an exploratory family-based WES study, and replication and functional studies are warranted to confirm these preliminary findings. Full article