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Parkinson's disease (PD) is the second-most common neurodegenerative disease, affecting 1% of people aged over 60. Currently, there is only symptomatic relief for PD patients, with levodopa being the gold standard of PD treatment. Deep brain stimulation (DBS) is a surgical option to treat PD patients. DBS improves motor functions and may also allow a significant reduction in dopaminergic medication. Important parameters for DBS outcomes are the disease duration, the age of disease onset, responsiveness to levodopa and cognitive or psychiatric comorbidities. Emerging data also highlight the need to carefully consider the genetic background in the preoperative assessment of PD patients who are candidates for DBS, as genetic factors may affect the effectiveness of DBS in these patients. This review article discusses the role of genetics in DBS for PD patients, in an attempt to better understand inter-individual variability in DBS response, control of motor PD symptoms and appearance of non-motor symptoms, especially cognitive decline. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the differences in patient/caregiver characteristics, their treatment needs, and the attending physician's understanding of those treatment needs according to the duration after diagnosis of dementia with Lewy bodies (DLB). Methods: This was a post hoc analysis of a multicenter, cross‐sectional, questionnaire survey study. A total of 263 patient–caregiver pairs were reclassified into two groups according to the median duration after diagnosis of DLB as follows: short (<24 months; S‐group) and long (≥24 months; L‐group) post‐DLB diagnosis duration. Treatment need was defined as the symptom domain that caused the patient or caregiver the most distress. Concordance rates between patient–physician and caregiver–physician were calculated for physicians' understanding of treatment needs. Results: In this analysis, 126 pairs (32 physicians) and 137 pairs (34 physicians) were classified as the S‐ and L‐groups, respectively. Patient and caregiver characteristics were broadly similar between groups (mean age for patients 78.7 ± 6.6 vs. 79.8 ± 6.7, for caregivers 64.7 ± 12.9 vs. 64.9 ± 12.8; number of male/female for patients 61/65 vs. 67/70, for caregivers 34/92 vs. 38/99), but the prevalence of parkinsonism (82.5% vs. 66.7%) and autonomic dysfunction (49.6% vs. 33.3%), severity of parkinsonism (MDS‐UPDRS Part III total scores, 29.2 ± 22.6 vs. 18.0 ± 16.4; Part II total score, 14.6 ± 12.0 vs. 7.6 ± 7.9), and caregiver burden (J‐ZBI_8 score, 9.1 ± 6.7 vs. 7.5 ± 5.8) were higher in the L‐group than the S‐group. Regarding treatment needs, the invalid answer rates for patients were 34.9% and 46.8%, and those for caregivers were 28.6% and 34.9% in the S‐ and L groups, respectively. Patients' treatment needs did not significantly differ (p = 0.056), but S‐group patients were more likely to select cognitive impairment (p = 0.045) as their treatment need, whereas L‐group patients were more likely to select parkinsonism (p = 0.003). Caregivers' treatment needs significantly differed (p = 0.032) between groups. S‐group caregivers were more likely to select cognitive impairment (p = 0.001), whereas L‐group caregivers were more likely to select other symptom domains such as parkinsonism (S‐group vs. L‐group: 10.3% vs. 16.7%), psychiatric symptoms (20.6% vs. 24.6%), sleep‐related disorder (4.0% vs. 7.1%), and autonomic dysfunction (4.8% vs. 9.5%). Concordance rates between patient–physician and caregiver–physician were low in both groups. Conclusions: There were some differences in characteristics according to the duration after diagnosis of DLB. Cognitive dysfunction may be a particular concern for patients and caregivers soon after diagnosis of DLB. Treatment needs of patients and caregivers for parkinsonism, psychiatric symptoms, sleep‐related disorder, or autonomic dysfunction were different according to the duration after diagnosis of DLB. Physicians' perception of patients'/caregivers' treatment needs was poor regardless of the duration after diagnosis of DLB. Clinical trial registration: UMIN Clinical Trials Registry (UMIN000041844). Key points: This multicenter, cross‐sectional observational study collected survey data from 263 patient–caregiver pairs and 66 physicians to investigate how the duration after diagnosis of dementia with Lewy bodies (DLB) influences clinical symptoms, prescribed medications, and caregiver burden, and how perception of treatment needs differs among patients, their caregivers, and their physicians.Presence of parkinsonism and autonomic dysfunction, severity of parkinsonism, and caregiver burden were all found to be higher in patients with more than 24 months duration.Although patient treatment needs did not differ significantly between patients by post‐diagnosis duration (<24 vs. ≥ 24 months), patients with short (<24 months) post‐diagnosis duration were more likely to select cognitive impairment as treatment need; while those with long (≥24 months) post‐diagnosis duration were more likely to select parkinsonism.Caregivers for patients with short post‐diagnosis duration were more likely to select cognitive impairment as the greatest treatment need, whereas caregivers for patients with long post‐diagnosis duration were more likely to select other symptom domains such as parkinsonism, psychiatric symptoms, sleep‐related disorder, and autonomic dysfunction as the greatest treatment need.Physicians' perception of patients' and caregivers' treatment needs was poor, regardless of the duration after diagnosis of DLB. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of dyslipidemia in RA patients and its association with different factors i.e., age, gender, disease duration and disease score. Study Design: Cross Sectional study. Setting: Independent University Hospital Faisalabad. Period: January 2022 to December 2023. Methods: 200 consecutive RA patients fulfilling inclusion and exclusion criteria, of either sex between age of 20 and 60 years were enrolled. The selection technique was non-probability convenient in this study. Frequency of dyslipidemia was assessed by the National Education Cholesterol Program 2004. The Chi square test was used to compare the frequency of dyslipidemia among different disease scores, different disease duration groups, age groups and gender. A p-valve of < 0.05 was considered statistically significant. Results: The frequency of dyslipidemia in RA patients was assessed. It was more common in female gender and age group of 36-50 years and of moderate disease score, also negative association of dyslipidemia was found when compared with different gender groups. Conclusion: Dyslipidemia, which is an important risk factor for CV diseases, was more prevalent in RA patients. High disease activity and more chronic disease are important association factors in dyslipidemia in RA patients. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate the incidence of Herpes Zoster (HZ) in patients with rheumatoid arthritis (RA) treated with Janus kinase inhibitors (JAKi), and to predict potential risk factors for HZ development. Methods: We retrospectively analysed medical records from RA patients at our rheumatology unit who met the 2010 ACR/EULAR criteria for RA and were receiving JAKi. The incidence and course of HZ were assessed through chart review and supplementary phone interviews. Results: A total of 198 JAKi-treated patients were monitored for an average of 18.5 months. Nine subjects experienced HZ, resulting in an incidence of 2.95 per 100 patient-years. No demographic or treatment-related differences were found among patients who developed HZ and those who did not. Disease duration (OR: 1.06, 95% CI: 1.01–1.12), time on JAKi treatment (OR: 1.04, 95% CI: 1.009–1.073), higher disease activity at JAKi initiation (OR: 4.16, 95% CI: 1.07–16.17), and at 3-month follow-up (OR: 6.0, 95% CI: 1.35–26.60) were identified as predictors of HZ occurrence. Thirty-six patients received vaccination against HZ, and none reported adverse reactions or flare-ups during a mean follow-up of 9.6 months. Conclusions: The incidence of HZ aligns with published data, suggesting that disease and treatment duration, as well as disease activity, are significant predictors of HZ in RA patients on JAKi therapy. Vaccination against HZ proved to be safe and effective, underscoring its potential protective value in this patient population. [ABSTRACT FROM AUTHOR]

Background: Diabetic retinopathy (DR) is one of the most common complications of diabetes worldwide. The aim of this study was to assess the prevalence of DR in hospitalized patients with type 2 diabetes (T2DM) in Tibet and to identify risk factors that may influence the occurrence of DR. Methods: This was a cross-sectional study conducted in a third-class hospital in the Tibet Autonomous Region. The prevalence of DR in hospitalized patients with T2DM was measured. Univariate and multivariate logistic regression, restricted cubic spline (RCS) analysis and receiver-operating characteristic curve analysis were used to investigate the risk factors for DR. Results: The prevalence of DR was 29.3%. The duration of diabetes; concentrations of 25-OH-VitD3, hemoglobin, fasting insulin, alanine aminotransferase, total bilirubin, and creatinine; and HOMA-IR were significantly different between DR patients and non-DR patients (all P < 0.05). Univariate and multivariate logistic regression revealed that a longer duration of diabetes and lower 25-OH-VitD3 levels were associated with increased DR risk. RCS analysis suggested overall positive associations of the duration of diabetes and 25-OH-VitD3 concentrations with DR risk (P nonlinearity < 0.05). The turning points for the duration of diabetes and 25-OH-VitD3 concentrations were 5.1 years and 10.6 ng/mL, respectively. The sensitivity, specificity, and area under the receiver-operating characteristic curve for the combination of the duration of diabetes and 25-OH-VitD3 levels were 79.4%, 69.4% and 0.764, respectively. Conclusions: Given the high prevalence of DR in hospitalized patients with T2DM in Tibet, vitamin D supplementation seems to be important in the prevention of DR to some degree. [ABSTRACT FROM AUTHOR]

Objective Background Methods Results Conclusions To evaluate headache comorbidity in a cohort of patients with functional movement disorders by assessing the prevalence, clinical characteristics, and temporal relationship of headache with the onset of functional symptoms.Functional movement disorders are common and potentially treatable. Although headache is frequent in these patients, few studies have evaluated their headache features.This observational cohort study included consecutive patients with functional movement disorders evaluated in our Functional Movement Disorders Unit between October 2021 and November 2022. Clinical and demographic features from clinical charts were reviewed, and patients completed a self‐administered questionnaire designed by the authors that included headache characteristics, disease duration, treatments received, and the Headache Impact Test‐6. Headache type was classified as per the Classification of Headache Disorders, third edition (ICHD‐3).A total of 51 patients with functional movement disorders were included. Of those, 40 (78%) reported having recurrent headache. Headache intensity was moderate–severe in 33/40 (83%), and about two‐thirds experienced headache >9 days/month. Disability secondary to headache was high (median [interquartile range] Headache Impact Test‐6 score 62 [49–66]). Based on the ICHD‐3, 23/40 (58%) of patients with headache met the criteria for migraine or probable migraine, 11/40 (27%) for tension‐type headache, two of 40 (5%) for new daily persistent headache, and one of 40 (3%) for primary exercise headache, while three of 40 (7%) were unclassifiable. The onset of headache occurred before the functional movement disorder in 28/40 (70%), after the functional movement disorder in five of 40 (12%), and simultaneously in six of 40 (15%). In this last group, four of the six (67%) patients described a daily headache from the onset, and two met the criteria for new daily persistent headache.Headache is a frequent condition in patients with functional movement disorders and an additional burden of disability beyond their motor symptoms. We found that, besides migraine and tension‐type headache, new daily persistent headache may be a comorbid phenotype in patients with functional movement disorders and should be further studied in larger prospective studies. [ABSTRACT FROM AUTHOR]

Purpose: Social anxiety disorder (SAD) remains an understudied potential link between the cancer experience and adolescent and young adult (AYA) cancer survivors' poor psychosocial outcomes. We investigated the frequency and duration of, as well as factors associated with, symptoms of SAD among AYAs with cancer. Methods: This longitudinal, mixed-methods study involved online surveys (including a validated screening tool for SAD) at recruitment and 6 months later, and a structured clinical interview. Results: Twenty-eight AYAs (aged 12–30 years, <1-year postdiagnosis, 50% male) completed the first survey (M = 6 months postdiagnosis). About 32% reported clinically significant SAD symptoms. Fourteen completed the follow-up survey (M = 12 months postdiagnosis), of which 9 (62%) reported persistent or worse symptoms of SAD significantly associated with emotional distress, physical appearance concerns, negative social cognitions, and depression. Conclusion: A subset of AYAs with cancer may experience clinically significant SAD symptoms that can affect their psychosocial well-being. Further work on how to best identify and support AYAs with SAD is needed. [ABSTRACT FROM AUTHOR]

Background Secukinumab is effective against a range of psoriatic manifestations. Investigating psoriasis (PsO) relapse following secukinumab discontinuation could provide insights into long-term PsO remission. Objectives To examine PsO relapse rates on treatment discontinuation following 1 year of secukinumab treatment. Methods This study (clinical trial number: NCT01544595) is an extension of the phase III ERASURE/FIXTURE studies in patients with moderate-to-severe plaque PsO. After 1 year of secukinumab 300 mg or 150 mg treatment, participants who had responded to treatment with a ≥ 75% reduction in Psoriasis Area and Severity Index (PASI 75) at week 52 were randomly assigned to receive placebo (n = 120 and n = 100, respectively). On relapse, patients receiving placebo were switched to their previous secukinumab dose. The study primary outcome was the nonrelapse rate after secukinumab withdrawal. Results Following the last dose of secukinumab 300 mg, 20.8% (25/120) and 10.0% (12/120) of patients who switched to placebo did not relapse at 1 and 2 years after discontinuation, respectively. Patients who received secukinumab 150 mg for 1 year showed a lower proportion of nonrelapse following treatment discontinuation [14% (14/100) and 6% (6/100)] at 1 and 2 years, respectively. Patients who did not relapse maintained low mean PASI (2.8) at 1 year drug free vs. baseline (20.9); 1.7 at 2 years drug free vs. baseline (19.2), following an initial 52-week treatment with secukinumab 300 mg. Disease duration (P = 0.02) and severity (P = 0.02) were significantly associated with time to relapse in patients initially treated with secukinumab 300 mg; patients with shorter disease duration and lower baseline PASI remained relapse-free for longer. Conclusions Following discontinuation of secukinumab, a proportion of patients stayed relapse-free. Further, patients with shorter disease duration remained relapse-free for longer, suggesting that earlier treatment with secukinumab may result in long-term clinical control of moderate-to-severe PsO. [ABSTRACT FROM AUTHOR]

Background Secukinumab, an anti-interleukin (IL)-17A monoclonal antibody, induces histological and molecular resolution of psoriatic plaques by 12 weeks. However, the long-term effects of secukinumab on the molecular resolution of psoriatic inflammation remain unknown. Objectives To investigate the molecular resolution of psoriasis following 52 weeks of secukinumab treatment. Methods This was a two-part phase II randomized double-blinded placebo-controlled 52-week study of patients with moderate-to-severe psoriasis receiving secukinumab 300 mg (NCT01537432). Psoriatic lesional and nonlesional skin biopsies were obtained at baseline and at weeks 12 and 52, and the composition of the residual disease genomic profile (RDGP; i.e. 'molecular scar') of biopsies from secukinumab responders analysed. Results After 52 weeks of treatment, 14 of 24 enrolled patients were considered to be clinical responders [≥ 75% improvement in Psoriasis Area and Severity Index (PASI 75)], 4 of 24 were considered to be nonresponders (< PASI 75) and 6 of 24 patients were lost to follow-up; both the histological and transcriptomic profiles of PASI 75 responders improved from week 12 to week 52. RDGP transcripts of histological responders only partially overlapped between weeks 12 and 52, despite a similar number of transcripts in each RDGP; specifically, four novel transcript subsets showed distinct expression dynamics between weeks 12 and 52 ('slow-resolving', 'recurring', 'persistent' and 'resolved'), with anti-inflammatory and immunomodulatory genes (e.g. SOCS1 , CD207 and IL37) notably restored at week 52. Shorter disease duration prior to secukinumab treatment coincided with greater transcript improvements at weeks 12 and 52. Conclusions Secukinumab improves the histological and molecular phenotype of psoriatic lesional skin up to 52 weeks of treatment; these results suggest possible mechanisms that drive long-term control of psoriasis. [ABSTRACT FROM AUTHOR]

Although exercise is the mainstay of treatment for neck pain (NP), uncertainty remains over optimal decision-making concerning who may benefit most from such, particularly in the long term. To identify the subgroup of patients with nonspecific NP most likely to benefit from stretching and muscle-performance exercises. This was a secondary analysis of treatment outcomes of 70 patients (10 of whom dropped out) with a primary complaint of nonspecific NP in one treatment arm of a prospective, randomized, controlled trial. All patients performed the exercises, twice weekly for 6 weeks, and a home exercise program. Blinded outcome measurements were collected at baseline, after the 6-week program, and at a 6-month follow-up. Patients rated their perceived recovery on a 15-point global rating of change scale; a rating of "quite a bit better" (+5) or higher was defined as a successful outcome. Clinical predictor variables were developed via logistic regression analysis to classify patients with NP that may benefit from exercise-based treatment. NP duration since onset≤6 months, no cervicogenic headache, and shoulder protraction were independent predictor variables. The pretest probability of success was 47% after the 6-week intervention and 40% at the 6-month follow-up. The corresponding posttest probabilities of success for participants with all three variables were 86% and 71%, respectively; such participants were likely to recover. The clinical predictor variables developed in this study may identify patients with nonspecific NP likely to benefit most from stretching and muscle-performance exercises in the short and long terms. [ABSTRACT FROM AUTHOR]

Background: It is unclear whether antibiotics impact delirium outcomes in older adults with pyuria or bacteriuria in the absence of systemic signs of infection or genitourinary symptoms. Methods: We registered our systematic review protocol with PROSPERO (CRD42023418091). We searched the Medline and Embase databases from inception until April 2023 for studies investigating the impact of antimicrobial treatment on the duration and severity of delirium in older adults (≥60 years) with pyuria (white blood cells detected on urinalysis or dipstick) or bacteriuria (bacteria growing on urine culture) and without systemic signs of infection (temperature > 37.9C [>100.2F] or 1.5C [2.4F] increase above baseline temperature, and/or hemodynamic instability) or genitourinary symptoms (acute dysuria or new/worsening urinary symptoms). Two reviewers independently screened search results, abstracted data, and appraised the risk of bias. Full‐text randomized controlled trials (RCTs) and observational study designs were included without restriction on study language, duration, or year of publication. Results: We screened 984 citations and included 4 studies comprising 652 older adults (mean age was 84.6 years and 63.5% were women). The four studies were published between 1996 and 2022, and included one RCT, two prospective observational cohort studies, and one retrospective chart review. None of the four studies demonstrated a significant effect of antibiotics on delirium outcomes, with two studies reported a worsening of outcomes among adults who received antibiotics. The three observational studies included had a moderate or serious overall risk of bias, while the one RCT had a high overall risk of bias. Conclusions: Our systematic review found no evidence that treatment with antibiotics is associated with improved delirium outcomes in older adults with pyuria or bacteriuria and without systemic signs of infection or genitourinary symptoms. Overall, the evidence was limited, largely observational, and had substantial risk of bias. [ABSTRACT FROM AUTHOR]

This study aimed to investigate the presence of structural and functional changes in extraocular muscles (EMs) among patients with inactive Graves' orbitopathy (GO) classified according to the Clinical Activity Score (CAS). Sixty-seven patients with Graves' disease (GD) and inactive GO were included. The data collected included clinical parameters, thyroid function, autoantibody levels, EOM morphology via orbital ultrasound (US), and ocular motility. Patients were stratified into Red Filter Test (RFT)-positive or RFT-negative groups based on the presence or absence of latent diplopia during the RFT examination. Thirty-three patients (49.25%) exhibited latent diplopia on the RFT, despite not reporting double vision during standard ocular motility tests. Significant differences were observed between the two groups in terms of age, disease duration, intraocular pressure (IOP) elevation in up-gaze, and medial rectus muscle thickness (p < 0.05). No significant differences were found in thyroid status, TRAb and ATA levels, CASs, exophthalmos, or lateral rectus thickness between the two groups. This study revealed that in inactive GO, subclinical EM dysfunction and morphological changes may be present, which might not be apparent through routine ocular examinations. The RFT is effective in detecting latent diplopia, highlighting its utility in identifying subtle ocular motility issues and subclinical muscle involvement. Comprehensive evaluations combining functional tests like the RFT and imaging are essential for early detection of GO-related abnormalities, enabling tailored and prompt management and improving patient outcomes. [ABSTRACT FROM AUTHOR]

Objective There is growing interest in the early identification of patients with axial PsA (axPsA). We aimed to evaluate whether a dermatology-based screening strategy could help to identify axPsA patients. Methods The dermatologist-centred screening (DCS) questionnaire was administrated by dermatologists to consecutive patients fulfilling the inclusion criteria [(i) age ≥18 years and (ii) clinical diagnosis of psoriasis made by a dermatologist] to identify patients eligible (affirmative answers 1–3c of the DCS) for rheumatological evaluation. Clinical, laboratory, genetic and imaging data were collected from all referred patients. Results Among the 365 patients screened, 265 fulfilled the inclusion criteria and 124/265 (46.8%) were eligible for rheumatological referral. Diagnosis of axPsA, with or without peripheral PsA (pPsA), was made in 36/124 (29.0%) patients; pPsA without axial involvement was found in 21/124 (16.9%) patients. Back pain at screening was recorded in 174 (66%) patients, with 158 (60%) reporting a back pain duration longer than 3 months and 140 (53%) reporting back pain onset before the age of 45 years. Active inflammatory and/or structural post-inflammatory changes in the sacroiliac joints and/or spine were observed in all axPsA patients. Patients with PsA showed a numerically longer duration of back pain and higher CRP levels in comparison with patients with psoriasis without PsA. Conclusion The DCS tool proved to be a valuable screening strategy for detecting and characterizing patients with axPsA in a real-life cohort of psoriasis patients in a dermatological setting and helped to identify a substantial number of patients affected by undiagnosed pPsA. [ABSTRACT FROM AUTHOR]

Objectives Adults with RA are being switched from etanercept originator to biosimilar in non-medical/cost-saving switching. This analysis aims to investigate outcomes in these patients, including (i) drug survival and (ii) disease activity at 6 months and 12 months, compared with those who remain on the originator. Methods Using BSRBR-RA, those who switched directly from etanercept originator to biosimilar were identified and matched to patients receiving the originator, based on gender, age, disease duration and originator start year. Drug survival was calculated; Cox-proportional hazard models assessed differences in drug persistence between those who switched vs remaining on originator. Change in DAS28 after 6 months and 12 months was compared between cohorts. Multiple imputation was used. Results A total of 1024 adults with RA switching from etanercept originator to biosimilar were included, with a matched cohort of patients remaining on the originator. Patients who switched onto a biosimilar product were no more likely to discontinue etanercept treatment vs those who remained on the originator; hazard ratio 1.06 (95%CI 0.89–1.26), with 65% of patients remaining on treatment at three years. Ninety-five (9%) patients switched back to the originator within the first year. After 6 months and 12 months, biosimilar patients were no more likely to have a worsening of DAS28 (>0.6 units) compared with those who remained on the originator. Conclusions This is the largest matched comparative effectiveness analysis showing patients switching from etanercept originator to biosimilar appearing to do just as well with regard to disease activity and drug persistence compared with those who remained on the originator. These data will be reassuring to clinicians and patients regarding non-medical switching. [ABSTRACT FROM AUTHOR]

• Strength-duration time constant (SDTC) may now be determined for cortical motor neurones. • SDTC is significantly reduced in ALS patients and is correlated with ALS functional rating score, and rate of disease progression. • An increase in transient Na+ conductances may account for the reduction in SDTC. Strength-duration time constant (SDTC) may now be determined for cortical motor neurones, with activity mediated by transient Na+ conductances. The present study determined whether cortical SDTC is abnormal and linked to the pathogenesis of amyotrophic lateral sclerosis. Cortical SDTC and rheobase were estimated from 17 ALS patients using a controllable pulse parameter transcranial magnetic stimulation (cTMS) device. Resting motor thresholds (RMTs) were determined at pulse widths (PW) of 30, 45, 60, 90 and 120 µs and M−ratio of 0.1, using a figure-of-eight coil applied to the primary motor cortex. SDTC was significantly reduced in ALS patients (150.58 ± 9.98 µs; controls 205.94 ± 13.7 µs, P < 0.01). The reduced SDTC correlated with a rate of disease progression (Rho = -0.440, P < 0.05), ALS functional rating score (ALSFRS-R) score (Rho = 0.446, P < 0.05), and disease duration (R = 0.428, P < 0.05). The degree of change in SDTC was greater in patients with cognitive abnormalities as manifested by an abnormal total Edinburgh Cognitive ALS Screen score (140.5 ± 28.7 µs, P < 0.001) and ALS-specific subscore (141.7 ± 33.2 µs, P = 0.003). Cortical SDTC reduction was associated with a more aggressive ALS phenotype, or with more prominent cognitive impairment. An increase in transient Na+ conductances may account for the reduction in SDTC, linked to the pathogenesis of ALS. [ABSTRACT FROM AUTHOR]

Spectral domain optical coherence tomography (SD-OCT) allows noninvasive measurements of retinal neuron layers. Here, we evaluate the relationship between clinical features and anatomical SD-OCT measurements in patients with spinocerebellar ataxia type 3 (SCA3) and how they change with time. A retrospective review was conducted on SCA3 patients. Clinical variables such as disease duration, number of CAG repeats, and the Scale for the Assessment and Rating of Ataxia (SARA) score were correlated with SD-OCT measurements, including retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, macular volume (MV), and central macular thickness (CMT). Seventeen SCA3 patients with an average follow-up of 44.9 months were recruited. Clinical features with significant baseline correlations with SD-OCT measurements included disease duration (CMT r = − 0.590; GCC r = − 0.585), SARA score (CMT r = − 0.560; RNFL r = − 0.390), and number of CAG repeats (MV r = − 0.552; RNFL r = − 0.503; GCC r = − 0.493). The annual rate of change of the SARA score during follow-up was associated with that of both the MV (r = − 0.494; p = 0.005) and GCC thickness (r = − 0.454; p = 0.012). High disability (stages 2 and 3) was independently inversely associated with the annual change in MV (ß coefficient − 17.09; p = 0.025). This study provides evidence of an association between clinical features and objective anatomical measurements obtained by SD-OCT in SCA3 patients. MV and GCC thickness could serve as potential biomarkers of disease severity, as their rates of decrease seem to be related to a worsening in the SARA score. These findings highlight the potential of SD-OCT as a noninvasive tool for assessing disease severity and progression in SCA3 patients. [ABSTRACT FROM AUTHOR]

Because of the crucial importance of finding a useful biomarker for further clinical trials in Machado-Joseph disease (MJD), and based on our previous studies, we aimed to evaluate whether the horizontal vestibulo-ocular reflex (VOR) gain could be a reliable neurophysiological biomarker for the clinical onset, severity, and progression of the disease. Thirty-five MJD patients, 11 pre-symptomatic genetically confirmed MJD subjects, and 20 healthy controls underwent a detailed epidemiological and clinical neurological examination including the Scale for the Assessment and Rating of Ataxia (SARA). Their VOR gain was measured using the video Head Impulse Test system. Twenty of the MJD patients were re-tested after a period of 1–3 years. Horizontal VOR gain was abnormal in 92% of MJD, 54% pre-symptomatic, and 0% healthy controls. Horizontal VOR gain in the MJD group was significantly negatively correlated with SARA score in the first (r=0.66, p<0.001) and second (r=0.61, p<0.001) examinations. There was also a significant negative correlation between the percentage of change in horizontal VOR gain and the percentage of change in SARA score across both examinations (r=−0.54, p < 0.05). A regression model of the SARA score with the horizontal VOR gain and disease duration as predictors demonstrated that both the horizontal VOR gain and the disease duration had an independent contribution to the prediction of the SARA score. The horizontal VOR gain seems to be a reliable biomarker for the clinical onset, severity, and progression of MJD and could be used in further clinical studies. [ABSTRACT FROM AUTHOR]

Ataxia and impaired motor learning are both fundamental features in diseases affecting the cerebellum. However, it remains unclarified whether motor learning is impaired only when ataxia clearly manifests, nor it is known whether the progression of ataxia, the speed of which often varies among patients with the same disease, can be monitored by examining motor learning. We evaluated motor learning and ataxia at intervals of several months in 40 patients with degenerative conditions [i.e., multiple system atrophy (MSA), Machado–Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3), SCA6, and SCA31]. Motor learning was quantified as the adaptability index (AI) in the prism adaptation task and ataxia was scored using the Scale for the Assessment and Rating of Ataxia (SARA). We found that AI decreased most markedly in both MSA-C and MSA-P, moderately in MJD, and mildly in SCA6 and SCA31. Overall, the AI decrease occurred more rapidly than the SARA score increase. Interestingly, AIs remained normal in purely parkinsonian MSA-P patients (n = 4), but they dropped into the ataxia range when these patients started to show ataxia. The decrease in AI during follow-up (dAI/dt) was significant in patients with SARA scores < 10.5 compared with patients with SARA scores ≥ 10.5, indicating that AI is particularly useful for diagnosing the earlier phase of cerebellar degeneration. We conclude that AI is a useful marker for progressions of cerebellar diseases, and that evaluating the motor learning of patients can be particularly valuable for detecting cerebellar impairment, which is often masked by parkinsonisms and other signs. [ABSTRACT FROM AUTHOR]

Simple Summary: The chemotherapy combination rituximab, gemcitabine, and dexamethasone (R-GDP), followed by high-dose chemotherapy and autologous stem cell transplantation, is one of the standards of care for relapsed or refractory B-cell non-Hodgkin lymphoma (R/R NHL). Complete metabolic response before transplantation is the most important prognosis factor for a long duration of remission. Selinexor is an oral, selective inhibitor of the nuclear export compound (XPO1). For heavily pretreated patients with DLBCL, the single drug selinexor has previously shown an overall response rate of 29%. In this study, we evaluated selinexor in combination with RGDP for patients with R/R B-cell lymphoma. The results from our phase I clinical study indicate that weekly selinexor plus RGDP has a generally tolerable safety profile and durable efficacy in R/R B-NHL. Purpose: Selinexor is an oral selective inhibitor of exportine-1 (XPO1) with efficacy as a single agent in heavily pretreated diffuse large B-cell lymphoma (DLBCL). We conducted a study investigating the combination of selinexor with rituximab and platinum-based chemotherapy in B-cell lymphoma. Patients and methods: We conducted a phase 1b, dose-escalation, and expansion trial, which enrolled patients with relapsed or refractory B-cell non-Hodgkin lymphoma. Patients received oral selinexor according to a 3 + 3 design in combination with rituximab and dexamethasone, high-dose cytarabine, oxaliplatine (DHAOX) or gemcitabine, dexamethasone, and cisplatin (GDP) chemotherapy. Results: A total of 39 patients were enrolled, 27 during the escalation phase and 12 during the expansion phase. Most patients had diffuse large B-cell lymphoma (DLBCL; 77%). Group R-DHAOX was prematurely closed to inclusion due to a recommendation from the French drug agency, independent of this trial. A recommended phase 2 dose (RP2D) of selinexor in association with R-GPD was established at 40 mg on days 1, 8, and 15 of each 21-day cycle. In a population of 18 patients treated at this dose of selinexor, the most frequent grade 3–4 adverse events were hematological. With this regimen, seven obtained a complete metabolic response and five a partial response. The median PFS was 5.8 months. Conclusions: Among the patients with R/R B-cell lymphoma, selinexor at a weekly dose of 40 mg with R-GDP is feasible for outpatients, with a generally acceptable safety profile. [ABSTRACT FROM AUTHOR]

Objective Methods Results Conclusion The study objective was to examine the disease, demographic, and imaging features associated with different inflammatory phenotypes of calcium pyrophosphate deposition (CPPD) disease, ie, recurrent acute calcium pyrophosphate (CPP) crystal arthritis, chronic CPP crystal inflammatory arthritis, and crowned dens syndrome (CDS).Data from an international cohort (assembled from 25 sites in 7 countries for the development and validation of the 2023 CPPD classification criteria from the American College of Rheumatology/EULAR) that met the criteria were included. Three cross‐sectional studies were conducted to determine the phenotypic characteristics of recurrent acute CPP crystal arthritis, chronic CPP crystal inflammatory arthritis, and CDS. Multivariable logistic regression analysis was used to calculate adjusted odds ratio (aOR) and 95% confidence interval (CI) to examine the association between potential risk factors and the inflammatory phenotype.Among the 618 people included (56% female; mean age [standard deviation] 74.0 [11.9] years), 602 (97.4%) had experienced acute CPP crystal arthritis, 332 (53.7%) had recurrent acute arthritis, 158 (25.6%) had persistent inflammatory arthritis, and 45 (7.3%) had had CDS. Recurrent acute CPP crystal arthritis associated with longer disease duration (aOR 2.88 [95% CI 2.00–4.14]). Chronic CPP crystal inflammatory arthritis was associated with acute wrist arthritis (aOR 2.92 [95% CI 1.81–4.73]), metacarpophalangeal joint osteoarthritis (aOR 1.87 [95% CI 1.17–2.97]), and scapho‐trapezo‐trapezoid (STT) joint osteoarthritis (aOR 1.83 [95% CI 1.15–2.91]), and it was negatively associated with either metabolic or familial risk for CPPD (aOR 0.60 [95% CI 0.37–0.96]). CDS was associated with male sex (aOR 2.35 [95% CI 1.21–4.59]), STT joint osteoarthritis (aOR 2.71 [95% CI 1.22–6.05]), and more joints affected with chondrocalcinosis (aOR 1.46 [95% CI 1.15–1.85]).CPPD disease encompasses acute and chronic inflammatory phenotypes, each with specific clinical and imaging features that need to be considered in the diagnostic workup. [ABSTRACT FROM AUTHOR]

Background: Olfactory dysfunction is a non-motor symptom and an important biomarker of Parkinson's disease (PD) because of its high prevalence (> 90%). Whether hyposmia correlates with motor symptoms is unclear. In the present study, we aim to investigate the relationship between olfactory impairment with both motor and non-motor features and disease variables (disease duration, stage, and severity). Methods: One-hundred fifty-four PD patients were evaluated. Odor identification ability was tested using Italian Olfactory Identification Test (IOIT). A comprehensive spectrum of motor and non-motor features was assessed. Cognitive function was investigated through MMSE. Patients were divided into 3 different clinical phenotypes using UPDRS-III: tremor-dominant type (TDT), akinetic-rigid type (ART), and mixed type (MXT). Results: Three of the 33 IOIT items were most frequently misidentified: basil (74.3%), coffee (66.9%), and mushroom (59.6%). Hyposmia was found in 93%. Hyposmic patients were older than controls (p = 0.01). Hoehn & Yahr (H&Y) score of 2 or greater was associated with higher probability of being hyposmic (OR = 5.2, p = 0.01). IOIT score did not significantly differ between TDT, ART, and MXT of analyzed PD patients. Performance to IOIT inversely correlated with age (p < 0.01), disease duration (p = 0.01), and H&Y score of 2 or higher (p < 0.01). Clinical features that associated with higher IOIT score were freezing of gait (FOG) (p < 0.001) and camptocormia (p < 0.05). Conclusions: In our cohort, IOIT scores showed a positive correlation with axial motor signs, but not with non-motor symptoms. IOIT may be a useful tool not only for supporting PD diagnosis but also for providing prognostic information about motor function. [ABSTRACT FROM AUTHOR]

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. In recent years, continuous discoveries of new ALS-causing genes have enhanced the understanding of the genotype–phenotype relationship in ALS, aiding in disease progression prediction and providing a more comprehensive basis for genetic diagnosis. Methods: A total of 1672 ALS patients who visited the Neurology Department of Peking Union Medical College Hospital between January 2014 and December 2022 and met the revised El Escorial diagnostic criteria were included. Clinical data were collected, whole exome sequencing and dynamic mutation screening of the C9ORF72 gene were performed, and the clinical phenotypes and genotypes of the patients were analyzed. Results: The average age of onset for the 1672 ALS patients was 52.6 ± 11.2 years (range 17–85 years), with a median disease duration of 14 months at the time of visit (interquartile range 9–24 months, range 2–204 months). The male to female ratio was 833:839. The patients included 297 (17.8%) with bulbar onset, 198 (11.8%) with flail arm/leg syndrome, 89 (5.3%) with familial ALS, and 52 (3.1%) with concomitant frontotemporal dementia (FTD). Pathogenic variants associated with ALS were detected in 175 patients (10.5% of the cohort), with the most common mutations being SOD1, FUS, and ANXA11. Among patients with familial ALS, 56.2% (50/89) had genetic mutations, compared to 7.9% (125/1583) in sporadic ALS cases. From the perspective of phenotype-genotype correlation, (1) In ALS-FTD patients, the most common genetic mutations were ANXA11 and C9ORF72 repeat expansions. Patients with flail arm/leg syndrome more frequently carried mutations in SOD1, ANXA11, and hnRNPA1; (2) Despite genetic heterogeneity, it was observed that mutations in FUS and NEK1 were more common in males, and patients with FUS mutations had a younger age of onset; mutations in SOD1 and SQSTM1 were more likely to present with lower limb onset. Conclusion: This study provides comprehensive data on the genetic characteristics of ALS patients in China through large-scale clinical data and genetic analysis of 1672 cases. Differences in age of onset, onset site, and clinical phenotype among ALS patients with different genotypes can help clinicians better predict disease progression and provide a basis for precise diagnosis and individualized treatment. [ABSTRACT FROM AUTHOR]

Background: Subcutaneous immunotherapy (SCIT) can induce systemic reactions (SRs) in certain patients, but the underlying mechanisms remain to be fully elucidated. Methods: AR patients who were undergoing standardized HDM SCIT (Alutard, ALK) between 2018 and 2022 were screened. Those who experienced two consecutive SRs were included in the study group. A control group was established, matched 1:1 by gender, age, and disease duration with the study group, who did not experience SRs during SCIT. Clinical and immunological parameters were recorded and analyzed both before SCIT and after 1 year of treatment. Results: A total of 161 patients were included, with 79 (49.07%) in the study group. The study group had a higher proportion of AR combined asthma (26.8% vs. 51.8%, p < 0.001) and higher levels of sIgE to HDM and HDM components (all p <.001). Serum IL‐4 and IL‐13 levels in the study group were higher than those in the control group (p <.05). The study group received a lower maintenance dosage of HDM extracts injections than control group due to SRs (50000SQ vs. 100000SQ, p <.05). After 1 year of SCIT, the VAS score, the lung function parameters of asthmatic patients over 14 years old significantly improved in both groups (all p <.05). After a 7‐day exposure to 20 μg/mL HDM extracts, the percentages of Th1, Th17, Tfh10, and Th17.1 in PBMCs decreased, while the Tfh13 cells significantly increased in the study group (p <.05). Conclusion: The type 2 inflammatory response is augmented in HDM‐induced AR patients who experienced SRs during SCIT. Despite this, SCIT remains effective in these patients when administered with low‐dosage allergen extracts. [ABSTRACT FROM AUTHOR]

The etiology of schizophrenia (SCZ), an incredibly complex disorder, remains multifaceted. Literature suggests the involvement of oxidative stress (OS) in the pathophysiology of SCZ. Determination of selected OS markers and brain-derived neurotrophic factor (BDNF) in patients with chronic SCZ and those in states predisposing to SCZ-first episode psychosis (FP) and ultra-high risk (UHR). Determination of OS markers and BDNF levels by spectrophotometric methods and ELISA in 150 individuals (116 patients diagnosed with SCZ or in a predisposed state, divided into four subgroups according to the type of disorder: deficit schizophrenia, non-deficit schizophrenia, FP, UHR). The control group included 34 healthy volunteers. Lower activities of analyzed antioxidant enzymes and GSH and TAC concentrations were found in all individuals in the study group compared to controls (p < 0.001). BDNF concentration was also lower in all groups compared to controls except in the UHR subgroup (p = 0.01). Correlations were observed between BDNF, R-GSSG, GST, GPx activity, and disease duration (p < 0.02). A small effect of smoking on selected OS markers was also noted (rho<0.06, p < 0.03). OS may play an important role in the pathophysiology of SCZ before developing the complete clinical pattern of the disorder. The redox imbalance manifests itself with such severity in individuals with SCZ and in a state predisposing to the development of this psychiatric disease that natural antioxidant systems become insufficient to compensate against it completely. The discussed OS biomarkers may support the SCZ diagnosis and predict its progression. [ABSTRACT FROM AUTHOR]

Gout is associated with increased risk of cardiovascular disease (CVD) morbidity and mortality. Therefore, an association between coronary heart disease (CHD) and gout deserves careful examination. Aim:. The aim of this study was to determine the prevalence of CHD and factors associated with CHD in patients (pts) with gout. Materials and methods:. The study involved 286 male patients with gout, age 51.2 [42.8; 59.4] years (ys), disease duration 6.2 [3.8; 12.1] ys. All patients underwent standard clinical examination screening traditional risk factors (TRFs) of CVDs. We estimated the adjusted odds ratio (OR) and 95% confidence interval (95% CI). Results:. CHD was found in 111 out of the 286 pts (38.8%), MI had a history in 29.7%. Compared to individuals with CHD, participants without CHD were older (56.7[52.1; 61.1] vs 46.2[40.6; 53.4] ys), had longer duration of gout (9.3[4.7; 15.1] vs 5.6[3.3; 9.7] ys) (for all p < 0.05). Abdominal obesity (OR, 3.6; 95% CI, 1.2–10.9), family history of CHD (OR, 2.2; 95% CI, 1.3–3.7), disease duration of gout more 10 ys (OR, 2.8; 95% CI, 1.6–4.7), age of gout onset < 35 ys (OR, 5.5; 95% CI, 2.6–11.7), intraosseous tophi (OR, 3.03; 95% CI, 1.8–5.01), nephrolithiasis (OR, 1.7; 95% CI, 1.04–3.04), renal failure (OR, 5.6; 95% CI, 2.7–11.4), serum total cholesterol (TC), (OR, 1.6; 95% CI, 1.0–2.8), serum creatinine (OR, 2.5; 95% CI, 1.2–5.1), increased the risk for CHD in patients with a gout. Conclusions:. The prevalence of CHD was 38.8% among individuals with gout (one-third of patients had a history of MI 29.7%). Our study showed that both TRFs of CVD and the severity of gout and a history of renal failure contribute to the development of CHD in patients with gout. [ABSTRACT FROM AUTHOR]

Detecting the association of genetic variants to the response of biological therapy represents an important advance in developing a personalized therapy. The aim of this work was to study the association of polymorphisms with an optimal response to tildrakizumab in patients with psoriasis in a real‐life clinical practice. Ninety patients with plaque psoriasis recruited from—Spanish hospitals receiving tildrakizumab for at least 24 weeks were genotyped for 180 polymorphisms. Optimal response to tildrakizumab was evaluated by absolute PASI ≤1 at 6 and 12 months. Polymorphisms corrected for weight and disease duration with an FDR <0.15 were included in a multiple regression model. Sixty three percent of patients achieved an absolute PASI ≤1 at 6 months, while 71% did so after 12 months. Disease duration (>27 years) and weight (>76 kg) were associated with treatment response; after correcting by these factors, no association (FDR >0.15) was found for any polymorphism and response to tildrakizumab at 6 months. The analysis at 12 months identified the genotype GG for rs610604 (TNFAIP3), CT for rs9373839 (ATG5), and delCTGT/delCTGT for rs72167053 (PDE4D) as risk factors to not achieve an optimal response (PASI ≤1), while CT for rs708567 (IL17RC) was protective, independently of weight and disease duration (FDR <0.15). The final multivariable model at 12 months showed an AUC of 0.90 (95% CI 0.82 to −0.98). We identified a set of polymorphisms that could be helpful to identify psoriatic patients with an optimal response to tildrakizumab at 12 months in real‐world practice conditions. [ABSTRACT FROM AUTHOR]

Background Educational inequalities in major depressive disorder (MDD) pose a major challenge. Tackling this issue requires evidence on the long-term impact of intervening on modifiable factors, for example lifestyle and psychosocial factors. For this reason, we aimed to simulate the development of educational inequalities in MDD across the life course, and to estimate the potential impact of intervening on modifiable factors. Methods We used data from the prospective Dutch Lifelines Cohort Study to estimate the required input for a continuous-time microsimulation. The microsimulation allowed us to project the development of educational inequalities in MDD between ages 18 and 65, and to assess the potential benefit of intervening on quality of social contacts, health literacy and smoking. Results On average, an additional 19.1% of individuals with low education will ever experience MDD between ages 18 and 65 compared with those with high education. Additionally, individuals with low education generally will develop MDD 0.9 years earlier and spend 1.2 years more with MDD, than individuals with high education. Improving the quality of social contacts in individuals with low education produced the largest effect; it would reduce the inequalities in the prevalence, onset and duration of MDD by an average of 18.4%, 18.3% and 28.6%, respectively. Conclusions Intervening on modifiable factors, particularly quality of social contacts, in individuals with low education could help reduce the estimated educational inequalities in MDD over the life course. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to conceptualise Temporomandibular disorder (TMD) symptom burden and severity and explored their interrelationships with somatic symptoms and psychological distress. Methods: Participants were recruited from a local polytechnic. The quintessential five TMD symptoms (5Ts) of the Diagnostic Criteria for TMDs (DC/TMD) were appraised and extended to evaluate the duration, frequency, intensity and interference of discrete TMD symptoms. Global TMD severity (GS) was computed by totaling the points for all TMD symptoms and dimensions. TMD (TS) and somatic symptom (SS) burden were assessed based on the Somatic Symptoms Scale‐8, while psychological distress was measured with the Depression, Anxiety and Stress Scales‐21. Statistical analyses were performed using Kruskal–Wallis/Dunn tests and Spearman's correlation (α =.05). Result: Of the 366 eligible participants (mean age 19.1 ± 2.3 years), 51.4% were 5Ts‐negative and 48.6% were 5Ts‐positive. Among the 5Ts‐positive individuals, 25.3%/64.0% were 'bothered a little' whereas 4.5%/10.7% were 'bothered a lot' by TMD pain/headache. Correspondingly, 32.6%/12.4%/5.1% were 'bothered a little' while 2.8%/2.8%/1.1% were 'bothered a lot' by TMJ sounds/closed/open locking. TS burden was moderate‐to‐strongly correlated to aggregate symptom duration, frequency, intensity, interference, GS and SS burden (rs =.50–.88). While TS burden and GS were weakly associated with psychological distress (rs =.18–.36), SS burden was moderately related to depression, anxiety and stress (rs =.47–.53). Conclusions: TS burden can serve as a proxy for global TMD severity and may be more meaningful than the mere presence of TMD symptoms in clinical and research settings. [ABSTRACT FROM AUTHOR]

Objective: Using the modified Rodnan skin score (mRSS) as a surrogate for disease activity, a phase 2a study in patients with systemic sclerosis (SSc) measured efficacy of the autotaxin inhibitor ziritaxestat. Mathematical modeling of mRSS was used to predict disease progression, examine candidate trial designs, and predict the probability of successfully discriminating treatment effect. Methods: Patients with SSc receiving 600 mg of ziritaxestat or placebo for 24 weeks were included, in addition to data up to week 52 of the open‐label extension (OLE). Longitudinal mRSS data were described using a disease progression model; drug effect was a binary variable. Parameters used to predict the OLE mRSS outcome were estimated using data from the 24‐week double‐blind phase and validated with observed data. Three trial designs were simulated to identify which had the highest probability of detecting a treatment effect. Power to detect a treatment effect was quantified using the simulations. Results: Maximum decreases from baseline in mRSS were 50.4% (ziritaxestat) and 34.7% (placebo). Study designs based on 300 patients randomized 2:1 or 1:1 to 600 mg of ziritaxestat or placebo had similar probabilities of detecting a significant treatment effect. Power to detect a treatment effect was >80% for all simulations. Conclusion: Disease progression and drug effect could be predicted beyond the range of observed data. This modeling and simulation approach may inform future trial design, including study duration, and predict the probability of success. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to investigate the use of high‐frequency sonography as a tool for detecting inflammatory and destructive changes in the hand and foot joints of patients with early and long‐term RA. Methods: This study employs a prospective cohort design involving 162 patients diagnosed with Rheumatoid arthritis (RA) who meet the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria. Patients were divided into two groups based on disease duration: Group 1 (n = 74) included patients with a disease duration of up to 2 years, or early РА (ERA;), Group 2 (n = 88) consisted of patients with a disease duration exceeding 2 years, or long‐term persistent РА (LtRA). All patients underwent a clinical assessment of their joints, as well as radiography and arthrosonography, at the beginning of the study and again at 6 and 12 months later. Results: In the general group of patients, ultrasound examination revealed signs of synovitis in the joints of the hands more frequently (66%) compared with clinical examination (56% by a number of swollen joints [NSJ] and 55% by a number of painful joints [NPJ], P <.01). After 6 months of treatment, 12% of the patients achieved full US remission and 24% achieved partial US remission. Conclusions: Within the scope of comprehensive RA diagnostics, arthrosonography of the joints of the hands and feet, utilizing a combination of greyscale and power Doppler, may surpass radiography in detecting early RA. This method allows for a more accurate assessment of disease activity and progression rates. Access the CME test here and search by article title. [ABSTRACT FROM AUTHOR]

Objective. To assess whether Lupus Low Disease Activity State (LLDAS) attainment is associated with favorable outcomes in patients with recent onset systemic lupus erythematosus (SLE). Methods. Data from a 13-country longitudinal SLE cohort were collected prospectively between 2013 and 2020. An inception cohort was defined based on disease duration < 1 year at enrollment. Patient characteristics between inception and noninception cohorts were compared. Survival analyses were performed to examine the association between LLDAS attainment and damage accrual and flare. Results. Of the total 4106 patients, 680 (16.6%) were recruited within 1 year of SLE diagnosis (inception cohort). Compared to the noninception cohort, inception cohort patients were significantly younger, had higher disease activity, and used more glucocorticoids, but had less organ damage at enrollment. Significantly fewer inception cohort patients were in LLDAS at enrollment than the noninception cohort (29.6% vs 52.3%, P < 0.001), but three-quarters of both groups achieved LLDAS at least once during follow-up. Limiting analysis only to patients not in LLDAS at enrollment, inception cohort patients were 60% more likely to attain LLDAS (hazard ratio 1.37, 95% CI 1.16-1.61, P < 0.001) than noninception cohort patients and attained LLDAS significantly faster. LLDAS attainment was significantly protective against flare in both the inception and noninception cohorts. A total of 88 (13.6%) inception cohort patients accrued organ damage during a median 2.2 years of follow-up. Conclusion. LLDAS attainment is protective from flare in recent onset SLE. Significant protection from damage accrual was not observed because of low rates of damage accrual in the first years after SLE diagnosis. [ABSTRACT FROM AUTHOR]

(1) Background: Data on persisting symptoms after SARS-CoV-2 infection in children and adolescents are conflicting. Due to the absence of a clear pathophysiological correlate and a definitive diagnostic test, the diagnosis of Long COVID currently rests on consensus definitions only. This review aims to summarise the evidence regarding Long COVID in children and adolescents, incorporating the latest studies on this topic. (2) Methods: We designed a comprehensive search strategy to capture all relevant publications using Medline via the PubMed interface, with the initial literature search conducted in April 2023. To be included, publications had to present original data and include >50 participants with Long COVID symptoms aged between 0 and18 years. (3) Results: A total of 51 studies met the inclusion criteria, with most studies originating from Europe (n = 34; 66.7%), followed by the Americas (n = 8; 15.7%) and Asia (n = 7; 13.7%). Various study designs were employed, including retrospective, cross-sectional, prospective, or ambispective approaches. Study sizes varied significantly, with 18/51 studies having fewer than 500 participants. Many studies had methodological limitations: 23/51 (45.1%) studies did not include a control group without prior COVID-19 infection. Additionally, a considerable number of papers (33/51; 64.7%) did not include a clear definition of Long COVID. Other limitations included the lack of PCR- or serology-based confirmation of SARS-CoV-2 infection in the study group. Across different studies, there was high variability in the reported prevalence of Long COVID symptoms, ranging from 0.3% to 66.5%, with the majority of studies included in this review reporting prevalences of approximately 10–30%. Notably, the two studies with the highest prevalences also reported very high prevalences of Long COVID symptoms in the control group. There was a relatively consistent trend for Long COVID prevalence to decline substantially over time. The prevalence of Long COVID appeared to differ across different paediatric age groups, with teenagers being more commonly affected than younger children. Furthermore, data suggest that children and adolescents are less commonly affected by Long COVID compared to adults. In children and adolescents, Long COVID is associated with a very broad range of symptoms and signs affecting almost every organ system, with the respiratory, cardiovascular, and neuropsychiatric systems being most commonly affected. (4) Conclusions: The heterogeneity and limitations of published studies on Long COVID in children and adolescents complicate the interpretation of the existing data. Future studies should be rigorously designed to address unanswered questions regarding this complex disease. [ABSTRACT FROM AUTHOR]

Background: Previous research has emphasized the significant role of illness perception in chronic diseases, including Multiple Sclerosis. Limited research has been conducted on exploring illness perception in Pediatric Onset Multiple Sclerosis (POMS), parental illness perception, and the impact of differences in their illness perceptions on the emotional well-being of the child. Method: This study included 65 dyads of children aged 10–17 and their parents, divided into the following two groups: (I) 32 dyads of children with POMS and their parents; and (II) 33 dyads of healthy children and their parents. Results: Overall, 73.1% and 43.8% of the children with POMS met the criteria for probable anxiety and depression, respectively, compared to 27.3% and 0% of the healthy children. Differences were found between the dimensions of illness perception in the POMS children and their parents, in the areas of consequences, personal control, identity, and control factors. Multinomial Logistic Regression indicated that differences in child–parent illness perception increased the likelihood of comorbid anxiety and depression by 37%. Discussion: These findings underscore the importance of alignment between children with POMS and their parents in illness perception. Healthcare providers should prioritize interventions that address illness perceptions and be mindful of the potential impact on depression and anxiety comorbidity. [ABSTRACT FROM AUTHOR]

Purpose: The massive increase of infections with Group A Streptococcus (GAS) in 2022–2023 coincided in Switzerland with a change of the recommendations for the management of GAS pharyngitis. Therefore, the objective of the present study was to investigate whether the clinical manifestations and management before hospitalization for GAS infection differed in 2022–2023 compared with 2013–2022. Methods: Retrospective study of GAS infections requiring hospitalization in patients below 16 years. Preadmission illness (modified McIsaac score), oral antibiotic use, and outcome in 2022–2023 were compared with 2013–2022. Time series were compared with surveillance data for respiratory viruses. Results: In 2022–2023, the median modified McIsaac score was lower (2 [IQR 2–3] vs. 3 [IQR 2–4], p = < 0.0001) and the duration of preadmission illness was longer (4 days [3–7] vs. 3 [2–6], p = 0.004) than in 2013–2022. In both periods, withholding of preadmission oral antibiotics despite a modified McIsaac score ≥ 3 (12% vs. 18%, n.s.) or ≥ 4 (2.4% vs. 10.0%, p = 0.027) was rare. Respiratory disease, skeletal/muscle infection, and invasive GAS disease were significantly more frequent in 2022–2023, but there were no differences in clinical outcome. The time course of GAS cases in 2022–2023 coincided with the activity of influenza A/B. Conclusion: We found no evidence supporting the hypothesis that the 2022–2023 GAS outbreak was associated with a change in preadmission management possibly induced by the new recommendation for GAS pharyngitis. However, clinical manifestations before admission and comparative examination of time-series strongly suggest that viral co-circulation played an important role in this outbreak. [ABSTRACT FROM AUTHOR]

To study retinal and choriocapillaris (CC) alterations using optical coherence tomography angiography (OCTA) in long-term type 1 diabetic (DM1) patients without diabetic retinopathy (DR). Seventy-eight eyes from 78 well-controlled DM1 patients diagnosed at least 15 years prior and 130 eyes of 130 healthy subjects were included in a cross-sectional descriptive study. Six eyes were excluded from the DM1 group. OCTA with Deep Range Imaging (DRI)-Triton swept source (SS)-OCT was performed. Statistically significant differences were found in all areas of the superficial capillary plexus (SCP), with lower values in DM1 patients. Differences were noted in all quadrants of the deep capillary plexus (DCP) except for the central area. Significant changes in CC blood flow were only found in the center. The foveal avascular zone (FAZ) area and diameters in the SCP were significantly different, while the DCP FAZ area was similar in both groups. Disease duration and microalbuminuria correlated negatively with some SCP areas and positively with FAZ values. Anatomical evaluation revealed microaneurysms in both plexuses, FAZ modifications, and areas lacking blood perfusion. Long-term type 1 diabetic patients without DR display microvascular abnormalities affecting retinal and CC blood perfusion, along with anatomical changes in retinal blood vessels. [ABSTRACT FROM AUTHOR]

Objective: Natalizumab (NTZ) is an effective immunomodulator therapy (IMT) employed for multiple sclerosis (MS) therapy. This study aimed to investigate the efficacy and safety of NTZ treatment in MS patients. Materials and Methods: Patients with clinically definite MS who received NTZ treatment were included in the study, and their data were derived from the iMed database. Patient demographics such as age, sex, and disease duration were assessed. The results pertaining to the annual number of attacks, expanded disability status scale (EDSS) results, magnetic resonance data, and no evidence of disease activity-3 (NEDA-3) were obtained. Results: This study included 153 patients (108 female and 43 male). The patients' ages ranged from 21.63 to 67.60 years, with a mean age of 44.50 years. Prior to undergoing NTZ treatment, 54.3% of the patients had received at least two other IMTs. The mean annual number of assaults was 1.19, and the number of attacks in the year prior to treatment ranged from 0 to 6. The mean number of attacks in the first year following treatment was 0.07, 0.13 in the second year, and 0.09 in the third year. The baseline EDSS values of the patients varied between 0 and 5.5, and the mean baseline EDSS value was 3.08. During the initial year of treatment, the patient's mean EDSS value was 2.58, the second year was 2.32, and the third year was 2.34. Recurrence with increased severity of disease activity or rebound development was observed in 14.6% of the patients whose NTZ treatment was terminated for any reason. The NEDA-3 value decreased from 82.8% (n=145) in the first year to 77.3% (n=132) in the second year and 79.0% (n=81) in the third year. Conclusion: Patients received NTZ for three years on average. 14.6% of the patients exhibit a recurrence or rebound of disease activity. Anti-John Cunningham virus antibody was detected in 5% of patients during the course of treatment. Approximately 80% of patient achieved NEDA-3 while receiving NTZ over the three-year period. [ABSTRACT FROM AUTHOR]

Aim: To investigate whether resilience mediates the connection between caregiver burden and hope among caregivers of patients with inflammatory bowel disease (IBD). Design: A cross‐sectional study. Methods: Two hundred patients with IBD were conveniently sampled from two tertiary hospitals in Jiangsu Province, China. The main instruments involved the Zarit Burden Interview, the 10‐item Connor‐Davidson resilience scale, and the Herth Hope Index. We conducted descriptive analysis and Pearson correlations using SPSS 25.0. The PROCESS v3.3 macro analysed the mediating effect. We report the results in line with the STROBE checklist. Results: Caregiver burden was significantly negatively connected with hope and resilience, whereas resilience positively correlated with hope. The mediation role of resilience was significant in the relationship between caregiver burden and hope, with mediating effects accounting for 47.86% of the overall effect. Conclusions: Resilience partially mediates the association between caregiver burden and hope among patients with IBD. This finding highlights the protective role of resilience in undermining caregiver burden and strengthening hope. Implications for Practice: In clinical practice, healthcare providers should perform routine psychological assessments for caregivers of patients with IBD. Furthermore, resilience training should be incorporated into interventions to alleviate caregiver burden and enhance hope. Patient or Public Contribution: None. [ABSTRACT FROM AUTHOR]

The aim of the study was to find out the pattern of IgM and IgG changes in patients with autoimmune thyroiditis depending on the pathological process duration. Materials and methods. A single-center cross-sectional study with randomization elements enrolled 170 patients with autoimmune thyroiditis, and 65 patients without thyroid pathology or other autoimmune diseases were assigned to sex- and age-matched comparison group (p = 0.6155 and p = 0.3093, respectively). The patients were classified according to thyroid status parameters into subclinical and manifest groups. All study participants were examined on IgM and IgG levels based not only on the clinical form of the disease, but also on the disease duration (up to 5 years and more than 5 years). The control group comprised 65 healthy individuals, including 26 men and 39 women (mean age 38.7 ± 10.8 years). Results. A slight decrease in IgM levels was observed in patients with subclinical form and longer disease duration, which was 1.5 (1.5; 1.7) g/l with the disease duration of up to 5 years and 1.4 (1.2; 1.4) g/l with the disease duration of more than 5 years, while there were no differences in IgM levels in patients with manifest form with longer disease duration. IgG concentrations were statistically significantly higher in both clinical groups of patients with the disease duration of up to 5 years compared to those in patients with the disease duration of more than 5 years (13 (11; 14) g/l up to 5 years and 11 (10; 12) g/l more than 5 years in subclinical group, p < 0.05); 13 (12; 14) g/l up to 5 years and 12 (10; 15) g/l more than 5 years in manifest group, p < 0.05). Conclusions. A downward trend in IgG concentrations is noted with the disease progression and longer duration, while IgM levels are uninformative.

Insecure attachment is proposed to be a risk factor in the development and persistence of severe grief. Although prior research demonstrates positive cross-sectional and longitudinal correlations between attachment styles and prolonged grief symptoms, controlled longitudinal analyses yield fewer convincing results. Therefore, we sought to further clarify the concurrent and longitudinal associations between these constructs. A sample of 225 bereaved Dutch adults (87% women; Mean age: 48.86 years) participated in a three-wave longitudinal survey including measures of attachment anxiety and attachment avoidance at baseline and prolonged grief symptoms at baseline and 6- and 12-month follow-up. Attachment anxiety and attachment avoidance were significantly positively correlated with prolonged grief symptoms at all time-points. However, multiple regressions, controlling for baseline symptoms, showed that attachment anxiety, attachment avoidance, and their interaction did not predict residual change in prolonged grief symptoms. These findings cast doubt on the proposed role of insecure attachment styles in prolonged grief. [ABSTRACT FROM AUTHOR]

Background: Onychopapilloma is an uncommon benign tumor of the nail bed and the distal matrix. Objectives: We aimed to investigate the clinical and pathological features of onychopapilloma in Taiwan. Materials and methods: We conducted a retrospective analysis of 12 patients with histopathologically proven onychopapilloma in a medical center in southern Taiwan from 2017 to 2023. Results: This case series consisted of 5 men and 7 women aged 29 to 38, with a mean age of 41.25 years. The clinical features were as follows: distal subungual hyperkeratosis (100%), longitudinal erythronychia (50%), longitudinal leukonychia (50 %), distal onycholysis (41%), and distal nail plate fissuring (41%). The duration of the disease varied greatly, ranging from 1 month to several years. Most patients were asymptomatic (58%), while some presented tenderness (41%). Fingernail involvement was more prevalent than toe involvement, with the thumb being the most commonly affected site. Most of the patients presented with a solitary onychopapilloma. None of the seven patients who underwent surgery and were available for follow-up experienced recurrence. Conclusions: This study highlights that longitudinal erythronychia and leukonychia emerged as the predominant clinical presentations of onychopapilloma. Furthermore, our findings suggest that surgical excision appears to be an effective method for onychopapilloma. [ABSTRACT FROM AUTHOR]

Aims: To examine physical functions, activity, and participation level, and associated factors with participation in children with juvenile idiopathic arthritis (JIA) across the International Classification of Functioning Disability and Health-Children and Youth. Methods: 49 children (Girl/Boy:28/21) aged between 7 and 18 years (Mean: 13.4 ± 3.3) were included. To evaluate body structure/functioning; pain, fatigue, disease activity, and motor functions were assessed. Childhood Health Assessment Questionnaire and Juvenile Arthritis Biopsychosocial and Clinical Questionnaire were used to determine activity level. Child and Adolescent Scale of Participation was used to assess participation. Results: Mild level of pain (2.0 ± 2.3), disease activity (2.0 ± 2.3), and fatigue (4.1 ± 4.0) were recorded. Decrease in motor functions was determined in 75% of children, while 61% of whom had activity-related disability. There was mild to moderate participation restrictions, and participation was significantly associated with age (r = –0.29), pain severity (r = –0.31), disease activity (r = –0.39), motor functions (r = 0.33), and activity level (r = –0.43), (p ˂ 0.05). Conclusions: Majority of children with JIA have deteriorations in physical functions, activity, and participation. Age, pain, disease activity, motor functions and activity level were associated with participation level. Children with JIA should be regularly evaluated multi-directional and they should be referred to rehabilitation programs to increase functionality and participation. [ABSTRACT FROM AUTHOR]

Limb‐girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra‐rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty‐one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease. [ABSTRACT FROM AUTHOR]

Objective: Less is known concerning the evolution of coping strategies before and after deep brain stimulation (DBS) in Parkinson's disease (PD) patients. Methods: In a randomized controlled trial, coping was measured with the neurological version of the CHIP (Coping with Health Injuries and Problem) and the BriefCOPE in PD patients before (T1: DBS - 2 months) and after (T2: + 3 months, T3: + 6 months) DBS. Patients (N = 50, age 59 ± 5.7 years, disease duration 9.54 ± 3.7 years) were randomised in 3 groups: CRTG (preoperative psychological preparation with cognitive restructuring), PIG (preoperative non structured interviews), and CG (no psychological preparation). Results: Coping strategies are modulated by the time of evaluation. Some strategies are significantly more used preoperatively than postoperatively, as strategies about the research for information (CHIP: F = 16.14; P =.000; η2 =.095; BriefCOPE F = 5.71; P =.005; η2 =.066), emotional regulation (F = 3.29; P =.042; η2 =.029), and well-being searching (F = 4.59; P =.013; η2 =.043). Some other strategies appear more used post than preoperatively, as palliative coping (F = 5.57; P =.005; η2 =.064), humour (F = 3.35; P =.041; η2 =.0.35), and use of substance (F = 4.43; P =.015; η2 =.070). No other specific time, group or time per group interaction effect was found. Conclusion: Coping strategies are crucial for PD patients to adapt to the evolution of their parkinsonian state. Their consideration should be more systematic in the neurosurgical process, particularly when neurological symptoms would remain after DBS. More insights are needed concerning the evolution of coping strategies through DBS and the impact of a preoperative psychotherapy over them in preoperative PD patients. [ABSTRACT FROM AUTHOR]

Introduction: Axial spondyloarthritis (AxSpA) is a chronic inflammatory condition primarily affecting the axial skeleton. Peripheral features such as peripheral arthritis (PA) and dactylitis are common in AxSpA disease. This study aimed to investigate the independent impact of these manifestations on patient presentation and disease outcomes within an Irish AxSpA cohort. Methods: 912 Irish AxSpA patients were analyzed in this study. Disease outcomes in patients with and without peripheral arthritis or dactylitis were compared using univariate and multivariate methods. The prevalence of extra-spinal manifestations was further assessed in relation to AxSpA disease duration. Results: 30.2% of patients reported PA, while 6.6% had dactylitis. PA and dactylitis were strongly linked, with 70% of patients presenting with dactylitis also showing features of PA. Psoriasis was more common in both patients with PA (OR 2.2, P < 0.001) and dactylitis (OR 3.38, P < 0.001). Dactylitis, but not PA was strongly linked to uveitis (OR 2.91, P < 0.001) and inflammatory bowel disease (OR 3.15, P < 0.001), while PA was associated with worse patient functioning and reduced quality of life. PA, but not dactylitis was linked with increased AxSpA disease duration. Discussion: Despite high concurrence of PA and dactylitis in AxSpA patients, each manifestation is independently associated with worse outcomes. While some of these overlapped, several outcomes are specific to either PA or dactylitis. Due to its strong association with uveitis and inflammatory bowel disease, an early presentation of dactylitis may represent a unique subset of patients and serve as a valuable predictive marker for the later onset of these conditions. Key points: Peripheral arthritis and dactylitis are closely correlated but independent manifestations in AxSpA, each uniquely contributing to increased disease severity. Dactylitis is uniquely associated with increased risk of uveitis and inflammatory bowel disease, while peripheral arthritis is uniquely linked with depression. An early presentation of dactylitis in AxSpA patients may be predictive of later uveitis episodes. [ABSTRACT FROM AUTHOR]

Background Thyroid eye disease (TED), a common extrathyroidal manifestation of Graves disease, poses significant management challenges due to potential disfigurement, visual impairment, and decreased quality of life. Uncertainties remain about the optimal treatment approach, especially regarding TED duration and its impact on outcomes. Objective This meta-analysis evaluates the effects of various treatments on inflammatory markers and severity endpoints in TED, stratified by disease duration, distinguishing between treatments initiated within the first 6 months (initial phase) and those initiated thereafter (subacute/chronic phase). Methods Following PRISMA guidelines, a systematic search of multiple electronic databases yielded 26 studies meeting predefined inclusion criteria. Methodological quality was assessed, and data were meticulously extracted and analyzed. Results In the initial phase, treatments like corticosteroids and teprotumumab showed significant improvements in clinical activity score, proptosis, and diplopia. In the subacute/chronic phase, the efficacy of methylprednisolone and teprotumumab is reduced. A "critical window" effect was observed, with treatments showing diminished efficacy after 6 months of TED duration. Conclusion This meta-analysis highlights the importance of tailoring treatment strategies based on TED duration, emphasizing early interventions to maximize benefits. The findings guide clinicians in selecting optimal treatments and underscore the need for further research to refine evidence-based approaches, ultimately enhancing patient outcomes and quality of life. [ABSTRACT FROM AUTHOR]

Context: The relationship between physical activity (PA) and fear of pain with movement (ie, kinesiophobia) during concussion recovery is unknown. Kinesiophobia may limit PA, while PA after concussion may reduce kinesiophobia. Our purpose was to examine the correlation between PA and self-reported kinesiophobia during concussion recovery for adolescents with and without persistent symptoms. Design: Prospective cohort study of children ages 10–18 years within 14 days of concussion. Methods: Participants rated kinesiophobia using the Tampa Scale of Kinesiophobia (TSK) at initial (≤14 d postconcussion) and return to play (RTP) assessments, and wore activity monitors between assessments. Our primary outcome was TSK score change from initial to RTP assessments. We grouped participants based on whether they experienced persistent symptoms (symptoms ≥28 days) or not (symptoms <28 days) and calculated correlation coefficients (Pearson r for normally distributed and Spearman rho for nonnormally distributed variables) between PA variables and TSK change scores. Results: Among the 41 participants enrolled, 44% developed persistent symptoms (n = 18; age = 14.5 [2.0] y; 50% female; symptom duration = 57.3 [6.2] d; RTP = 66.8 [6.4] d) and 56% did not (n = 23; age = 14.9 [1.8] y; 48% female; symptom duration = 15.2 [1.5] d; RTP = 21.7 [1.9] d). For the persistent symptoms group, greater TSK change scores (mean = −2.5 [5.7] point change) were significantly and moderately correlated with higher daily step count (r = −.60, P =.008) and exercise frequency (r = −.63, P =.005), but were not correlated with exercise duration (ρ = −.12, P =.65). Among the no persistent symptoms group, TSK change scores (mean = −6.0 [5.0] point change) were not correlated with step count (r = −.18, P =.41) or exercise duration (ρ =.10, P =.67), and the correlation with frequency was low and not significant (r = −.34, P =.12). Conclusions: Regular PA during concussion recovery, regardless of duration or intensity, may help reduce kinesiophobia for those experiencing persistent symptoms. [ABSTRACT FROM AUTHOR]

Introduction: To find the adherence rate to periodic dilated eye examinations (DEEs) and its determinants among patients with diagnosed diabetes. Research Design and Methods: In this cross‐sectional study of 165 participants with diagnosed diabetes (Type 1/2) attending a general hospital with a diabetes clinic, we explored perceptions of barriers and facilitators of DEE at the individual level using a framework adapted from the health belief model (HBM). Patients were compared using t tests for continuous data and chi‐square tests for categorical data. Results: The rate of adherence to DEE (as defined by DEE within a year) was 62.4% (95% confidence interval [CI] = 55.0%–69.8%). The mean age of the patients was 56.81 (±13.29) years. We found that the mean benefit score was significantly higher, and the mean barrier score was significantly lower in those adhering to DEE (p < 0.001); but the susceptibility, severity, and self‐efficacy scores were not significantly different. Furthermore, those under treatment for diabetes mellitus (DM), those with diabetic retinopathy (DR) in them or their family member, and those with DM duration of 1 year or less were significantly likely to adhere to DEE (p < 0.005). Additionally, those who had received advice for eye screening from their physicians were about 25 times more likely to adhere to DEE (95% CI =6.80–92.05) than those who were not advised. Conclusion: A larger proportion of people with diabetes did not adhere to periodic DEE. Benefits and barriers were found to be determinants in this population. Further exploration in a larger population and the use of HBM to increase adherence to periodic DEE can be tested by targeting behavioral counseling along with other traditional approaches. [ABSTRACT FROM AUTHOR]

Introduction: Atopy is an important and non-negligible clinical phenomenon in chronic spontaneous urticaria (CSU). However, the characteristics and clinical significance of atopy in patients with CSU have not been fully described. This study aimed to analyze the characteristics and clinical significance of atopy in patients with CSU. Methods: A descriptive cross-sectional design was used. The study enrolled 176 patients with CSU. All enrolled patients underwent total IgE, specific IgE, and autologous serum skin tests (ASSTs). The relationships between atopy, the demographic and clinical data of patients with CSU, and the response to ASST were analyzed in detail; the distribution of allergens in atopic CSU was also analyzed. Results: Atopy was confirmed in 48.9% of patients with CSU. Patients with atopic CSU were more likely than patients with non-atopic CSU to have dermatographism (57.0% vs. 41.1%, p < 0.05), history of urticaria (37.2% and 18.9%, respectively; p < 0.01), angioedema (39.5% and 24.4%, respectively; p < 0.05), and anaphylaxis (7/86 and 1/90, respectively; p < 0.05). Atopy was not associated with ASST response, disease duration, or response to antihistamine treatment in patients with CSU, nor was it associated with the urticaria activity score (UAS7), chronic urticaria quality of life questionnaire (CU-Q2oL), or pruritus visual analog scale (VAS) scores (all p < 0.05). The most common allergen in patients with atopic CSU was dust mites, followed by animal food allergens, tree/grass pollen, and cockroaches. Conclusions: Although larger prospective studies are needed to confirm these results, our study found atopy occurred in nearly half of patients with CSU, and preliminarily links atopy to CSU, suggesting it as a potential risk factor for angioedema, anaphylaxis, and recurrent urticaria, mirroring allergen patterns in other allergic disease. [ABSTRACT FROM AUTHOR]

Background: Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease. Nusinersen is the first disease modifying drug approved to treat patients with SMA. Our study aimed to evaluate the efficacy of nusinersen treatment on motor function in children with SMA. Methods: A retrospective analysis was conducted on the data of 52 genetically confirmed SMA patients from November 2020 to September 2023. Motor function was assessed based on standardized scales from baseline to 14 months of follow-up. Results: Of patients in this study, the majority had SMA type 2 (40/52, 76.9%), 5 (9.6%) and 7 (13.5%) patients had SMA types 1 and 3, respectively. The median disease duration was 11 months (range 0-52), and the median age at initiation of treatment was 44.5 months (range 5-192). Motor function of all the patients with SMA improved from baseline to 14 months of follow-up. Mean increases of 4.6-point (p = 0.173), 4.7-point (p = 0.021) and 2.7-point (p = 0.013) were observed from baseline to 14 months of follow-up for the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores, the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM), respectively. Increased disease duration and age of treatment initiation were negatively correlated with the changes in HFMSE scores (r = -0.567, p = 0.043; r = -0.771 and p = 0.002, respectively). Similar results were observed for the RULM scores (r = -0.714, p = 0.014; r = -0.638 and p = 0.035, respectively). Conclusion: Our study suggested that 14 months of treatment with nusinersen was effective and improved the motor function of children with SMA types 1, 2, or 3. In addition, disease duration and age at treatment initiation were negatively correlated with treatment outcome in the patients. [ABSTRACT FROM AUTHOR]