Frequency Scores Research Articles

Dupilumab Improves Health-Related Quality of Life and a Range of Symptoms in Patients With Eosinophilic Esophagitis.

Improvements in symptomatic experience and health-related quality of life (HRQoL) are among the most important treatment benefits in patients with eosinophilic esophagitis (EoE). We assessed the impact of dupilumab treatment on HRQoL, patients' impression of dysphagia, and symptoms beyond dysphagia in adults/adolescents (≥12 years) with EoE in parts A and B of the LIBERTY EoE TREET (NCT03633617) study. The EoE Symptom Questionnaire (EoE-SQ; frequency and severity of nondysphagia symptoms), EoE Impact Questionnaire (impact of EoE on HRQoL), and Patient Global Impression of Severity and Patient Global Impression of Change of dysphagia were used to assess the efficacy of weekly dupilumab 300 mg vs placebo. At week 24, dupilumab reduced EoE-SQ Frequency (least squares mean difference vs placebo [95% confidence interval] part A -1.7 [-2.9, -0.5], part B -1.4 [-2.3, -0.5]; both P < 0.01) and EoE-SQ Severity (part A -2.0 [-3.9, 0.0], P < 0.05, part B -1.5 [-3.0, 0.1], P = 0.07) overall scores, and improved scores across all individual items. Improvement in the dupilumab group was clinically meaningful to patients. Dupilumab also meaningfully improved EoE Impact Questionnaire average scores and improved individual item scores at week 24, particularly emotional and sleep disturbance. More dupilumab-treated patients reported improvement in the Patient Global Impression of Change of dysphagia vs placebo or reported having no symptoms per the Patient Global Impression of Severity of dysphagia at week 24. Dupilumab reduced the impact of EoE on multiple aspects of HRQoL, patients' impression of dysphagia, and frequency and severity of symptoms beyond dysphagia in adults/adolescents with EoE.

Virtual reality cue-exposure therapy in reducing cocaine craving: the Promoting Innovative COgnitive behavioral therapy for Cocaine use disorder (PICOC) study protocol for a randomized controlled trial

BackgroundCocaine craving is a central symptom of cocaine use disorders (CUD). Virtual reality cue-exposure therapy for craving (VRCET) allows more immersive, realistic, and controllable exposure than traditional non-VR cue-exposure therapy (CET), whose efficacy is limited in treating substance use disorders. The purpose of this study is to evaluate the efficacy and acceptability of VRCET, as a stand-alone and add-on intervention (i.e., combined with cognitive therapy), compared to a picture-based CET (PCET), in reducing self-reported cocaine craving in inpatients hospitalized for CUD.MethodsFifty-four inpatients hospitalized for CUD will be randomized in one of two intensive 3-week treatment arms: 10 meetings/2-week treatment of VRCET plus 5 meetings/1-week treatment of memory-focused cognitive therapy (MFCT; experimental arm), or 15 meetings/3-week treatment of PCET (active control arm). The Craving Experience Questionnaire (CEQ – F & S) will be used to assess the primary outcome, i.e., the post-treatment decrease of self-reported cocaine craving frequency (within the past 2 weeks) and intensity scores (in VR exposure to cocaine cues). Secondary endpoints include urinary, physiological, and self-reported cocaine use-related measures. Assessments are scheduled at pretreatment, after 2 weeks of treatment (i.e., VRCET vs. PCET), post-treatment (3 weeks, i.e., VRCET + MFCT vs. PCET), and at 1-month follow-up. Acceptability will be evaluated via (i) the Spatial Presence for Immersive Environments – Cybersickness along VRCET and (ii) the Client Satisfaction Questionnaires after 2 weeks of treatment and post-treatment.DiscussionThis study will be the first to evaluate the acceptability and efficacy of VRCET for CUD, as a psychotherapeutic add-on, to reduce both cocaine craving frequency and intensity. Additionally, this study will provide evidence about the specific interest of VRCET, compared to a non-VR-based CET, as a cue reactivity and exposure paradigm for treating substance use disorders.Trial registrationNCT05833529 [clinicaltrials.gov]. Prospectively registered on April 17, 2023.

Genome-wide association studies of lifetime and frequency cannabis use in 131,895 individuals.

Cannabis is one of the most widely used drugs globally. Decriminalization of cannabis is further increasing cannabis consumption. We performed genome-wide association studies (GWASs) of lifetime (N=131,895) and frequency (N=73,374) of cannabis use. Lifetime cannabis use GWAS identified two loci, one near CADM2 (rs11922956, p=2.40E-11) and another near GRM3 (rs12673181, p=6.90E-09). Frequency of use GWAS identified one locus near CADM2 (rs4856591, p=8.10E-09; r2 =0.76 with rs11922956). Both traits were heritable and genetically correlated with previous GWASs of lifetime use and cannabis use disorder (CUD), as well as other substance use and cognitive traits. Polygenic scores (PGSs) for lifetime and frequency of cannabis use associated cannabis use phenotypes in AllofUs participants. Phenome-wide association study of lifetime cannabis use PGS in a hospital cohort replicated associations with substance use and mood disorders, and uncovered associations with celiac and infectious diseases. This work demonstrates the value of GWASs of CUD transition risk factors.

Validation of Patient-Reported Outcome Measure in Pediatric CKD (PRO-Kid).

Measuring the burden of symptoms that matter most to children and adolescents with chronic kidney disease (CKD) is essential for optimizing patient-centered care. We developed a novel CKD-specific Patient-Reported Outcome measure (PRO-Kid) to assess both frequency and impact of symptoms in children. In the current study, we further assessed the validity and internal consistency of PRO-Kid. In this multicenter study, children age 8 to 18 years with stages 3-5 CKD, including those on dialysis, were recruited from five pediatric centers. Children completed the 14-item PRO-Kid questionnaire and the validated Pediatric Quality of Life Inventory (PedsQL™ 4.0). We explored the dimensionality of the PRO-kid scale using exploratory and confirmatory factor analysis, to either establish that it is a unidimensional construct or identify evidence of subfactors. We then assessed internal consistency (Cronbach's alpha [Cα]) and construct validity (Pearson correlations). In total, 100 children were included. The median eGFR was 27.4 ml/min/1.73m2 [7.43, 63.4], and 26 children (26%) were on dialysis. Both the PRO-Kid frequency and the impact scales were unidimensional. Cα was high for both the PRO-Kid frequency and impact scales, 0.83 (95% CI = 0.78 to 0.88) and 0.84 (95% CI = 0.80 to 0.89) respectively, showing strong internal consistency. Pearson correlations between PRO-Kid and PedsQL™ scores were also strong: -0.78 (95% confidence interval [CI] = -0.85 to -0.70) for the frequency score and -0.69 (95% CI = -0.78 to -0.56) for the impact score, reflecting the association between poorer quality of life and higher symptom burden. PRO-Kid is a novel patient-reported symptom burden tool for children 8-18 years of age with CKD that correlates strongly in the expected direction with PedsQL™, supporting its validity. Future work will evaluate changes in PRO-Kid score with progression of CKD, and implementation of the tool into clinical care.

Altered dynamic functional connectivity of motor cerebellum with sensorimotor network and default mode network in juvenile myoclonic epilepsy.

To investigate whether changes occur in the dynamic functional connectivity (dFC) of motor cerebellum with cerebral cortex in juvenile myoclonic epilepsy (JME). We adopted resting-state electroencephalography-functional magnetic resonance imaging (EEG-fMRI) and a sliding-window approach to explore the dFC of motor cerebellum with cortex in 36 JME patients compared with 30 and age-matched health controls (HCs). The motor cerebellum was divided into five lobules (I-V, VI, VIIb, VIIIa, and VIIIb). Additionally, correlation analyses were conducted between the variability of dFC and clinical variables in the Juvenile Myoclonic Epilepsy (JME) group, such as disease duration, age at disease onset, and frequency score of myoclonic seizures. Compared to HCs, the JME group presented increased dFC between the motor cerebellum with SMN and DMN. Specifically, connectivity between lobule VIIb and left precentral gyrus and right inferior parietal lobule (IPL); between lobule VIIIa and right inferior frontal gyrus (IFG) and left IPL; and between lobule VIIIb and left middle frontal gyrus (MFG), bilateral superior parietal gyrus (SPG), and left precuneus. In addition, within the JME group, the strength of dFC between lobule VIIIb and left precuneus was negatively (r = -0.424, p = 0.025, Bonferroni correction) related with the frequency score of myoclonic seizures. In patients with JME, there is a functional dysregulation between the motor cerebellum with DMN and SMN, and the variability of dynamic functional connectivity may be closely associated with the occurrence of motor symptoms in JME.

Examining the association between emotional intelligence and chatbot utilization in education: A cross-sectional examination of undergraduate students in the UAE

BackgroundWhile Emotional Intelligence (EI) demonstrably affects academic success, literature lacks exploration of how implementing chatbot in education might influence both academic performance and students' emotional intelligence, despite the evident potential of such technology. AimTo investigate the associations between Emotional Intelligence (EI), chatbot utilization among undergraduate students. MethodsA cross-sectional approach was employed, utilizing a convenience sample of 529 undergraduate students recruited through online questionnaires. The participants completed the Trait Emotional Intelligence Questionnaire and modified and a modified versions of the unified theory of acceptance and use of technology (UTAUT) model. Resultsof the 529 participants, 83.6 % (n = 440) of participants regularly used chatbot for learning. Students demonstrated a moderate average EI score (129.60 ± 50.15) and an exceptionally high score (89.61 ± 20.70) for chatbot acceptance and usage. A statistically significant (p < 0.001) positive correlation was found between chatbot usage frequency and EI total score. Gender and major emerged as significant factors, with female students (p < 0.05) and health science students (p < 0.05) utilizing chatbot less compared to male and other major students, respectively. A negative correlation (r = −0.111, p = 0.011) was observed between study hours and chatbot usage, suggesting students with higher study hours relied less on chatbot. ConclusionsThe positive correlation between chatbot use and EI in this study sparks promising avenues for enhancing the learning experience. By investing in further research to understand this link and integrate AI tools thoughtfully, policymakers and educators can cultivate a learning environment that prioritizes both academic excellence and student well-being, reflecting the values and perspectives of UAE culture.

A case-control study of the risk factors for fistula-in-ano in infants and toddlers

BackgroundLimited data are available regarding the risk factors for fistula-in-ano (FIA) in infants and toddlers, potentially affecting their daily lives.ObjectivesThe purpose of this study was to identify potential risk factors for FIA in infants and toddlers, in order to implement early preventive interventions, avoid disease progression, and develop therapeutic strategies.Design and settingsA retrospective case-control study was conducted, comparing 41 infants and toddlers diagnosed with FIA with 41 healthy controls, between August 2020 and December 2021.Independent variables(a) maternal characteristics during pregnancy and delivery, (b) perinatal characteristics, dietary behaviors, and defecation-related behaviors in infants and toddlers, (c) family dietary behaviors.ResultsMothers of infants and toddlers with FIA had given birth more times in the past, while the infants and toddlers themselves had less mealtime, a higher rate of exclusive breastfeeding, frequent loose stools, and a larger proportion of used wipes, experiencing perianal skin anomalies. The logistic regression analysis revealed that there are four significant risk factors associated with the development of FIA in infants and toddlers, including the number of previous deliveries by the mother (OR 6.327), defecation frequency score (OR 5.351), stool consistency score (OR 5.017), and cleaning with wipes after defecation (OR 8.089).ConclusionBased on our data, it appeared that FIA in infants and toddlers could be attributed to several factors. These included an increased number of previous deliveries by mothers, frequent loose stools, and repeated wipe use. To prevent the occurrence and worsening of the disease, it is important to improve the frequency and consistency of stooling and provide proper care. Further research is required to verify these findings in other clinical settings.

Self-injury functions mediate the association between anxiety and self-injury frequency among depressed Chinese adolescents: sex differences

ObjectiveNon-suicidal self-injury (NSSI) has become a common clinical problem that severely threatens the mental and physical health of Chinese adolescents. This study explores the mediation effects of NSSI functions on the relationship between anxiety and NSSI frequency among depressed Chinese adolescents as well as the sex differences in the mediating effects.MethodsIn this study, a cross-sectional survey method was used to obtain data of 1773 adolescent patients with major depressive disorders from over 20 specialized psychiatric hospitals across multiple provinces in China. A self-designed questionnaire for demographic information, the Chinese version of Functional Assessment of Self- Mutilation (C-FASM), and the 7-item Generalized Anxiety Disorder Scale (GAD-7) were employed to investigate demographic data, NSSI frequency, NSSI functions, and anxiety and to analyze the mediating effects of NSSI functions on the association between anxiety and NSSI frequency among adolescents of different sexes.ResultsA total of 316 male patients and 1457 female patients were investigated. Female patients had a higher NSSI frequency (Z=3.195, P=0.001) and higher anxiety scores than did male patients (Z=2.714, P=0.007). Anxiety had a stronger positive predictive effect on the NSSI frequency in females (OR = 1.090) than in males (OR = 1.064). For male patients, the emotion regulation function in NSSI motivation played a full mediating role in the association between anxiety and NSSI frequency. For female patients, the emotion regulation and social avoidance functions in NSSI functions played a partial mediating role between anxiety and NSSI frequency.ConclusionsThere are sex differences in the mediating role of NSSI functions of depressed adolescents in the association between anxiety and NSSI frequency. When experiencing anxiety, both males and females may engage in NSSI behaviors as a means to regulate their emotions. For females, anxiety can directly predict NSSI frequency, and they may attempt NSSI to achieve the purpose of rejecting others. In the face of anxiety among depressed adolescents of different sexes, developing different emotional regulation methods and behavioral regulation strategies may be critical in preventing their NSSI behaviors.

Incidental Germline Findings During Comprehensive Genomic Profiling of Pancreatic and Colorectal Cancer: Single-center, Molecular Tumor Board Experience.

Abstract Multidisciplinary molecular tumor boards (MTB) are already well established in many comprehensive cancer centers and play an important role in the individual treatment planning for cancer patients. Comprehensive genomic profiling of tumor tissue based on next-generation sequencing is currently performed for diagnostic and mainly predictive testing. If somatic genomic variants are identified, which are suspected to be pathogenic germline variants (PGVs), MTB propose genetic counseling and germline DNA testing. Commonly used comprehensive genomic profiling approaches of tumor tissue do not include a matched germline DNA control. Therefore, the detection of PGVs could be only predicted based on the content of tumor cells (CTC) in selected tumor area (%) and variant allele frequency score (%). For conclusion, the role of a medical geneticist is essential in these cases. The overall prevalence of PGVs in patients with pancreatic ductal adenocarcinoma (PDAC) and colorectal cancer (CRC) is approximately 10%. In this single-center study, we present 37 patients with PDAC and 48 patients with CRC who were presented at MTB and tested using the large combined DNA/RNA sequencing panel. Content of tumor cells and variant allele frequency scores were evaluated in all tested patients. In case of suspicion of PGV and no previous genetic testing based on the standard guidelines, genetic counseling was recommended regardless of age, sex, and family history. In the PDAC subgroup, five patients were recommended by MTB for genetic counseling based on suspicious genetic findings. Based on a medical geneticist’s decision, germline DNA sequencing was performed in four of these cases, and all of them tested positive for PGV in the following genes: ATM, ATM, BRCA1, and BRCA2. In the CRC subgroup, no PGV was confirmed in the two patients genetically tested based on the MTB recommendations. Furthermore, we present data from our center’s registry of patients with PDAC and CRC who underwent genetic counseling and germline DNA testing based on the standard screening criteria. Our data confirm that comprehensive genomic profiling of tumor tissue can identify patients with hereditary forms of PDAC, who could remain unidentified by standard screening for hereditary forms of cancer.

A study of the effects of screen exposure on the neuropsychological development in children with autism spectrum disorders based on ScreenQ

PurposeTo investigate the relationship between multi-dimensional aspects of screen exposure and autistic symptoms, as well as neuropsychological development in children with ASD.MethodsWe compared the ScreenQ and Griffiths Development Scales-Chinese Language Edition (GDS-C) of 636 ASD children (40.79 ± 11.45 months) and 43 typically developing (TD) children (42.44 ± 9.61 months). Then, we analyzed the correlations between ScreenQ and Childhood Autism Rating Scale (CARS), and GDS-C. We further used linear regression model to analyze the risk factors associated with high CARS total scores and low development quotients (DQs) in children with ASD.ResultsThe CARS of children with ASD was positively correlated with the ScreenQ total scores and “access, frequency, co-viewing” items of ScreenQ. The personal social skills DQ was negatively correlated with the “access, frequency, content, co-viewing and total scores” of ScreenQ. The hearing-speech DQ was negatively correlated with the “frequency, content, co-viewing and total scores” of ScreenQ. The eye-hand coordination DQ was negatively correlated with the “frequency and total scores” of ScreenQ. The performance DQ was negatively correlated with the “frequency” item of ScreenQ.ConclusionScreenQ can be used in the study of screen exposure in children with ASD. The higher the ScreenQ scores, the more severe the autistic symptoms tend to be, and the more delayed the development of children with ASD in the domains of personal-social, hearing-speech and eye-hand coordination. In addition, “frequency” has the greatest impact on the domains of personal social skills, hearing-speech, eye-hand coordination and performance of children with ASD.

An Observation Study of Caries Experience and Potential Risk Assessments among Disabled Individuals Living in an Institutional Rehabilitation Centre.

The aim of this study was to conduct salivary, microbiological, and caries risk assessments in relation to caries experience among individuals with intellectual disability in an institutional center in the Al-Baha region, Saudi Arabia. A cross-sectional study was conducted among 89 patients residing in special care homes in the Al-Baha region, Saudi Arabia, from October 2023 to February 2024. The demographic details of all participants were recorded. Clinical oral examinations were performed for the decayed, missing, or filled teeth (DMFT) and plaque indices. Salivary and microbiological assessments were also carried out. The mean age of the study sample was 30.11 ± 4.39 years, and the mean duration of years spent residing in the facility was 26.49 ± 4.66. There was no significant difference observed across plaque scores, S. mutans colony count, salivary rate, pH, DFMT, and caries experience when they were compared across the levels of severity of intellectual disability. Statistically significant differences were observed across diet score, circumstance score, and chances to avoid caries and were found to be correlated with the severity of intellectual disability (p = 0.001, p = 0.001, and p = 0.002), respectively. The cariogram revealed that participants in this study had poor oral health status, with participants with severe intellectual disability having higher diet scores, frequency scores, and susceptibility scores; hence lesser chances to avoid dental caries. Regular dental check-ups, including cleanings and other treatments if necessary, seem to be fundamental to prevent dental issues and maintain healthy teeth and gums for this group of people. Developing interventions that focus on improving oral health status among intellectually disabled individuals may be recommended to ensure the optimum level of support and reduce the burden of dental decay among those individuals.

Changes in fatigue symptoms following an exercise-based rehabilitation programme for patients with long COVID.

There is evidence to support COVID-19 rehabilitation programmes improving persistent COVID-19 symptoms; however, there is concern that therapies that include an exercise component may increase fatigue and post-exertional symptom exacerbation (PESE). The objectives of the present study were to determine the effect of a 6-week COVID-19 rehabilitation programme on fatigue and PESE in individuals with ongoing COVID-19 symptoms. After a routine medical assessment, individuals with persistent COVID-19 symptoms were enrolled on a 6-week COVID-19 specific rehabilitation programme. The programme included symptom-titrated exercise, education and self-management advice. Fatigue was assessed pre- and post-programme using the Functional Assessment Chronic Illness Therapy Fatigue questionnaire (FACIT). Exercise capacity (Incremental and Endurance Shuttle Walking Test (ISWT and ESWT)) and PESE (DePaul Symptom Questionnaire (DSQ)) were also assessed pre- and post-programme. Composite scores were calculated for the frequency and severity domains of the DSQ. 148 patients (median (IQR) age 59 (49-72) years, 82 (55%) female, 81 (54%) hospitalised) completed the COVID-19 rehabilitation programme. FACIT score was reduced pre- to post-programme by a mean (CI) change of -5 (-7- -4); p<0.01. Exercise capacity increased by 82 (65-99) m for the ISWT and 398 (333-462) s for the ESWT (n=148). PESE was assessed in 44 patients. The DSQ frequency and severity composite score improved by 20 (13-28) and 19 (13-26) points, respectively (p<0.01, n=44). These data demonstrate the potential benefits of a COVID-19 rehabilitation programme in improving fatigue, exercise capacity and symptom exacerbation in those with persistent COVID-19 symptoms.

Comparison of Forward-Leaning and Fowler Position: Effects on Vital Signs, Pain, and Anxiety Scores in Children With Asthma Exacerbations.

It is essential to relieve bronchospasm or specific asthma symptoms by administering immediate inhaler treatment during an asthma exacerbation. The present study compared the effect of Fowler position and forward-leaning positions during nebulization on heart rate, SpO2 , breathing frequency, pain, and anxiety levels in children experiencing asthma exacerbations. The data originated from a randomized trial that compared 86 participants (study group n = 43, control group n = 43) who presented to the pediatric emergency department with asthma exacerbations between October 2019-February 2020. The subjects were administered nebulization 3 times, during which the study group was placed in the forward-leaning position and the control group in the routine Fowler position. The subjects provided information on chest pain and anxiety levels before and after nebulization, and heart rate, SpO2 , and breathing frequency were measured before and after each nebulization. The difference in the mean SpO2 measured at admission and after the third nebulization was significantly higher (3.2 ± 1.5% vs 2.3 ± 1.9%, P = .01); the difference in the mean breathing frequency was considerably higher (-6.0 ± 1.7 breaths/min vs -3.2 ± 1.8 breaths/min, P < .001), and the difference in the mean pain scores was significantly higher (-3.3 ± 2.5 vs -2.0 ± 2.3, P = .02) in the study group than in the control group. In addition, after the third nebulization, the breathing frequency (22.8 ± 2.8 breaths/min vs 24.2 ± 2.7 breaths/min, P = .02) and pain score of the study group were lower (0.8 ± 1.3 vs 1.5 ± 1.5, P = .01). There was no difference in the mean heart rate (20.6 ± 16.2 beats/min vs 20.0 ± 15.4 beats/min, P = .85) and anxiety levels (-2.0 ± 2.2 vs -1.9 ± 2.2, P = .90) between the groups. Placing children in a forward-leaning position during nebulization was effective in improving SpO2 and reducing breathing frequency and chest pain. The forward-leaning position implemented during nebulization is a non-pharmacologic method that supports recovery in children with asthma exacerbations.

Assessing the Engagement of Textile Design Graduates in Textile Entrepreneurship

This research investigated the trend of textile design graduates venturing into entrepreneurship, exploring the motivating factors and strategies employed by these entrepreneurs. The study adopts survey research design using a questionnaire as the data gathering tool. The population of the study are textile graduates in selected schools in Southwest Nigeria comprising of federal universities, state universities and polytechnics. One hundred and four (104) graduates were sampled using snowball sampling techniques. The data collected were analyzed quantitatively through descriptive analysis using frequency, percentage and mean score. The result of the research reveals that they are increasingly involved in textile entrepreneurship. It was discovered that fashion design is the most subscribed entrepreneurial area by textile design graduates closely followed by Adire production. It was also revealed that textile design graduates engage in entrepreneurial areas outside the textile design field such as banking, real estate and web development among others. It is recommended that tertiary institutions should encourage students to participate in entrepreneurial competitions, both within and outside the institution to enlighten them more about textile entrepreneurship. It is also recommended that tertiary institution should update their curricula to ensure that they have adequate theoretical and practical content to produce graduates well-pre pared for the competitive textile market.

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

BackgroundLong QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS in an affected Iranian family using whole exome sequencing (WES).MethodsA 37-year-old woman with a personal and family history of sudden cardiac arrest and LQTS was referred for genetic study after losing her teenage daughter due to sudden cardiac death (SCD). WES was performed and variants were filtered and prioritized based on quality, allele frequency, pathogenicity predictions, and conservation scores. Sanger sequencing confirmed segregation in the family.ResultsWES identified a novel heterozygous frameshift variant (NM_000238.4:c.3257_3258insG; pGly1087Trpfs*32) in the KCNH2 encoding the α-subunit of the rapid delayed rectifier potassium channel responsible for cardiac repolarization. This variant, predicted to cause a truncated protein, is located in the C-terminal region of the channel and was classified as likely pathogenic based on ACMG guidelines. The variant was absent in population databases and unaffected family members.ConclusionThis study reports a novel KCNH2 frameshift variant in an Iranian family with LQTS, expanding the spectrum of disease-causing variants in this gene. Our findings highlight the importance of the C-terminal region in KCNH2 for proper channel function and the utility of WES in identifying rare variants in genetically heterogeneous disorders like LQTS. Functional characterization of this variant is warranted to fully elucidate its pathogenic mechanisms and inform personalized management strategies.

Effect of Colchicine Treatment on Clinical Course in Children with PFAPA Syndrome.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is the most common periodic fever condition in children. There is no consensus on treatment to prevent attacks and reduce their frequency. In this study, we aimed to evaluate the effectiveness of colchicine treatment in PFAPA syndrome. In addition, we described the demographic and clinical features of PFAPA patients. We retrospectively analyzed 58 PFAPA patients who were started on colchicine treatment between January 2017 and January 2022. Demographic data, clinical features, laboratory tests, genetic analysis of MEditerranean FeVer (MEFV) mutations, and autoinflammatory disease activity index (AIDAI) scores of all patients were evaluated. In addition, patients were divided into two groups according to MEFV variants and compared. Attack frequency, duration, and AIDAI scores decreased in all patients after colchicine treatment. Duration of follow-up was 13.53±6.65 months. The median±IQR age at diagnosis was 3.2 (2-5) years. Thirty three (56.9%) patients had heterozygous mutations of MEFV. The most common MEFV variants were M694V (63.6%). There was no significant difference between the two groups in terms of colchicine responses. Colchicine treatment is effective and safe in patients with PFAPA who have frequent attacks. No association was established between the presence of heterozygous mutations of MEFV and colchicine response.

Physical fitness in Indian women with epilepsy on anti-seizure medications and its association with reproductive status, quality of life and stigma: A cross-sectional study

PurposeTo determine the status of physical fitness, reproductive abnormalities, QOL and epilepsy associated stigma in women with epilepsy (WWE) and their association with ASM therapy and seizure frequency. MethodsThis cross-sectional study included WWE of reproductive age (18–50 years) on antiseizure medications (ASMs) for at least three months before enrolment. Physical fitness was assessed using International Physical Activity Questionnaires (IPAQ) and Body composition analysis. Subjects were interviewed for menstrual abnormalities [menstrual disturbance or Polycystic Ovary Syndrome (PCOS)/hirsutism]. Validated questionnaires were used for assessment of, QOL (QOLIE-10) and Stigma in epilepsy (Epilepsy Stigma Scale). Sub-group analysis was done to compare the above parameters on the basis of a) type of therapy (mono or polytherapy), b) type of ASMs treatment (conventional, newer, or conventional + newer ASMs), and c) seizure type and (d) seizure frequency. Correlation and regression analysis were done to find out the association among different variables with physical fitness. ResultsThe overall prevalence of poor physical fitness, reproductive abnormalities, worsened QOL and stigma in the enrolled WWE (n = 203) were 21.18 %, 20.19 %, 52.7 %, and 21.67 %, respectively. Sub-group analysis revealed that WWE on monotherapy (n = 99) had higher median IPAQ score (p = 0.002), comparatively less reproductive abnormalities (24.03 %, p = 0.008), and higher stigma (24.03 %, p = 0.04) than polytherapy group. WWE on conventional ASMs had significantly higher IPAQ scores compared to newer and conventional + newer ASMs groups (p = 0.02). The prevalence of poor physical fitness and stigma was significantly higher in WWE with higher number of seizures (p = 0.007, <0.001, respectively). No significant difference in QOL was observed on the basis of ASM type and therapy; however, WWE with generalized onset seizures had worsened QOL compared to those with focal onset seizures (p = 0.04). A significant negative correlation was found among seizure frequency and IPAQ score in WWE (p = 0.04). ConclusionWWE on polytherapy were physically less active, higher occurrence of reproductive abnormalities, and stigma compared to the monotherapy group. WWE with higher seizure frequency had poor physical fitness, and higher stigma compared to those with lesser number of seizures. These findings may aid value in optimization of ASM treatment in WWE of reproductive age.

Differential efficacy of medical therapies for ulcerative colitis according to disease extent: patient-level analysis from multiple randomized controlled trials

Disease extent in Ulcerative Colitis (UC) has prognostic implications for disease course. It is unclear whether the efficacy of medical therapies for moderate to severely active UC vary according to disease extent at enrollment. We analyzed patient level data from 11 Phase 2 and 3 clinical trials of advanced therapies in patients with moderate-to-severe UC to assess modifications of advanced therapy effects by disease extent. Primary outcome was clinical response and secondary outcomes were clinical remission, endoscopic response/remission and endoscopic improvement, and Mayo clinic subscore for both induction and maintenance studies. Binary and continuous outcomes were analyzed using the modified Poisson regression model and the mixed-effects model, respectively, adjusting for age, sex, disease duration, concomitant steroid use and prior anti-TNF use. Effect modifications with binary outcomes were quantified by ratios of risk ratio for left-sided to that for extensive colitis while effect modifications with the Mayo subscores were quantified by differences of the differences between mean scores of the left-sided and extensive colitis. Results were presented with point estimates and 95% confidence intervals as well as p-values. Eleven clinical trials enrolling 5450 UC patients (infliximab=2, adalimumab=2, golimumab=2, vedolizumab=2, tofacitinib=3) were included. In induction trials, there was evidence to suggest effect modification by disease extent for clinical response with tofacitinib (the ratio of RRs 0.67, 95% CI [0.45, 0.99], p=0.049) and clinical remission with infliximab (ratio of RRs 0.33, 95% CI [0.13, 0.85], p=0.020) favoring patients with extensive colitis. There was no evidence to suggest effect modification for endoscopic improvement and clinical outcomes. There was evidence to suggest effect modification by disease extent for clinical remission with tofacitinib (ratio of RRs 0.44, 95% CI [0.22, 0.89], p=0.020) favoring patients with extensive colitis. For symptom subscores from the Mayo Clinic score, tofacitinib was associated with a greater reduction in both stool frequency (difference of differences 0.37, 95% CI [0.08, 0.65], p=0.012) and rectal bleeding scores (difference of differences 0.25, 95% CI [0.03, 0.47], p=0.026) in patients with extensive colitis compared to left sided. These findings underscore the possibility of differential efficacy of medical therapies according to disease distribution. These results warrant further exploration in forthcoming trials to better inform treatment strategies and consideration of disease distribution as a baseline stratification factor in clinical trials. This study did not receive any financial support.

Abstract PO1-11-07: Do factors other than type of surgery performed for breast cancer affect quality of life and sexual functioning in breast cancer survivors? An observational study from Northern India

Abstract INTRODUCTION There is an increasing focus of the treating clinicians on issues related to quality of life and sexual functioning in breast cancer survivors. This is even more important in developing countries like India as the incidence of breast cancer in young in also significant here. However, despite this, there is little data from India on the factors affecting quality of life and sexual functioning on breast cancer survivors. Hence, we decided to perform this study. METHODS Patients who had undergone surgery for breast cancer within the last 2-5 years were included. Patients having significant psychiatric illness were excluded and so were patients who developed metastasis or local recurrence during the follow up. Questions on demographics, clinical history, standard of living index, quality of life (SF-36 questionnaire) and sexual function (CSFQ questionnaire) were asked. Data was analyzed using SPSS v22. Normality of continuous data was tested by Kolmogorov–Smirnov and Shapiro–Wilk tests. As a test of significance, chi square was used for qualitative data and t-test, Mann-Whitney U, and Kruskal-Wallis were used (as applicable) for quantitative data. Bonferroni adjustment was made wherever significance was found, if more than 1 group were involved. Multiple linear regression was carried out for quantitative dependent variables where significant risk factors were found. Independent variables with significant collinearity were excluded from linear regression. RESULTS A total of 120 patients were enrolled. In QOL scores, both physical health (B = -13.76, p = 0.007) and emotional problems (B = -10.65, p = 0.035) were affected adversely by endocrine therapy. Patients who had received radiotherapy had worse emotional well-being scores (B = -14.61, p = &amp;lt; 0.001). Patients who received chemotherapy or were married had significantly better social functioning score (B = 15.27, p = 0.020, B = 17.38, p = 0.041 respectively), whereas it was worse in patients who received trastuzumab (B = -18.32, p = 0.024). Pain scores were higher in premenopausal patients (B = 11.95, p = 0.021) and lower in patients having co-morbidities (B = -10.95, p = 0.039). None of the factors affected physical functioning, energy/fatigue, general health or health change scores. In sexual functioning scores, pleasure score (B = 1.27, p = 0.011) frequency scores (B = 1.97, p = 0.012), orgasm score (B = 3.43, p = 0.019) and total score (B = 12.30, p = 0.006) were higher in married women. Pleasure score was found to be lower in patients with co-morbidities (B = -0.82, p = 0.003). None of the factors affected desire or arousal. CONCLUSION Even though sexual functioning depended a lot on having a long-term partner, most of the factors affecting quality of life scores were treatment related. Actively addressing these concerns may help in improving quality of life and in turn, may improve compliance to treatment and follow-up. Citation Format: SIDDHANT KHARE, Devesh Dhamor, R N NAGA SANTOSH IRRINKI, Bijaya Padhi. Do factors other than type of surgery performed for breast cancer affect quality of life and sexual functioning in breast cancer survivors? An observational study from Northern India [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-11-07.

Clinical Characteristic of Patients Underwent Bone Mineral Density Examination in Prof. Dr. R. Soeharso Orthopaedic Hospital in 2022-2023: A Cross-Sectional Study

Background: In Indonesia, osteoporosis affects roughly 23% of men and women aged 50-70 and a staggering 53% of those over 70. Understanding the characteristics of patients undergoing bone mineral density (BMD) examinations is crucial for developing better strategies for prevention, diagnosis, and treatment. This study investigates the characteristics of patients who had BMD examinations at the Prof. Dr. R. Soeharso Orthopaedic Hospital. Methods: A cross-sectional study was conducted at Prof. Dr. R. Soeharso Orthopaedic Hospital from April 2022 to April 2023, using a total sampling approach and data extracted from digital medical records. The variables included age, gender, body mass index (BMI), BMD T-score from the lumbar spine, hip, and forearm, frequency and location of fragility fracture (FF), osteoporosis frequency, and fracture risk assessment (FRAX) score for major osteoporotic fracture (MOF) and hip fracture. Patients with incomplete data were excluded. Results: This study involved 168 patients, mainly women (83%) and men (17%). Most (81.5%) were aged 50-74, with osteoporosis affecting 29.2% and severe osteoporosis affecting 60.7%. The spine was the most common site of FF (88.2%). Osteoporosis severity correlated with higher BMI (p&lt;0.05). FRAX scores for MOF and hip fractures were mostly in the low-risk category. Conclusions: A high prevalence of osteoporosis and severe osteoporosis among women, particularly those in the age of 50 to 74 years, and higher BMI was correlated with greater severity of osteoporosis. FF was found more common among women with the spine as the most frequently affected site.