Journals
2026 EN
Yano Chikashi · Ando Masahiro · Higuchi Yujiro
+25 more
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2 ‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods We performed a multicenter study investigating 3329 Japanese patients with inherited peripheral neuropathies/CMT who underwent gene panel sequencing or whole‐exome analysis between 2007 and 2024. Clinical data, including electrophysiological assessments, were obtained from the patients' medical records. Results We identified six pathogenic INF2 variants in eight patients, all of which were located within the diaphanous inhibitory domain. Structural modeling revealed clustering of variants near the diaphanous autoregulatory domain‐binding pocket, which is critical for INF2 autoinhibition. Clinically, all cases were sporadic, with a median age at neurological onset of 9 years. All patients exhibited lower limb weakness, and 6/8 (75%) had sensory disturbances. All patients also developed kidney dysfunction, with 7/8 (88%) progressing to end‐stage renal disease at a median age of 15 years. Furthermore, all patients showed demyelinating neuropathy, and 2/8 (25%) received immunotherapy due to suspected immune‐mediated neuropathy. Conclusion Although INF2 variants are a rare cause of CMT in Japan, they should be considered in pediatric patients with demyelinating neuropathy and early‐onset proteinuria, even in the absence of a family history. Blood and urine tests assessing renal dysfunction can provide guidance for appropriate genetic testing.
Journals
2026 EN
Schmidt Henri J. D. · Battaglia Nicole · Rong Joshua
+9 more
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms. Children with complex HSP phenotypes had lower scores than those with pure forms. Scores correlated with established clinical scales but declined with age only in HSP‐ SPG11 and HSP‐ ZFYVE26 . These findings identify key determinants of reduced quality of life and highlight clinical targets for supportive interventions in childhood‐onset hereditary spastic paraplegia. Trial Registration: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia: NCT04712812
Journals
2026 EN
Tang Mengxuan · Bai Amerta · Ferreira Felipe Rodridgues Marques
+14 more
ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional approach of anti‐seizure medications (ASMs), anesthetics, and immunomodulation fails. We present a case of cryptogenic NORSE in a 30‐year‐old male with autism and developmental delay, with refractory seizures localized to bilateral posterior quadrants. Sensing‐enabled DBS targeting the pulvinar thalami led to decreased seizure burden and clinical improvement, highlighting the importance of tailoring neuromodulatory targets to seizure localization.
Journals
2026 EN
Asukile Melody T. · Kapapa Musambo · Mwingila Emelda
+1 more
ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms. Sensation, bladder, and bowel function were normal. His examination revealed fatigable ptosis and diplopia with a positive ice‐pack test. His motor examination showed mild fatigable hip flexion weakness and hyporeflexia that recovered on brief exercise. Electrophysiologic studies revealed small motor nerve amplitudes that improved with brief exercise, and a significant decrement on slow repetitive nerve stimulation. He had a positive anti‐VGCC antibody. The clinical, electrophysiological, and antibody findings supported a diagnosis of Lambert Eaton Myasthenic syndrome (LEMS). LEMS commonly presents as a paraneoplastic syndrome associated with small cell lung cancer in older male smokers. However, some forms are primarily autoimmune, as was the case in our patient.
Journals
2026 EN
Baker Joshua F. · England Bryant R. · George Michael D.
+7 more
Objective We assessed whether circulating adipokines are associated with incident fractures in patients with rheumatoid arthritis (RA). Methods Three adipokines (adiponectin, leptin, and fibroblast growth factor [FGF]‐21) were measured using banked enrollment serum from participants in a longitudinal RA cohort. Adipokine levels were dichotomized as high/low using median values. Incident osteoporotic fracture was defined based on published algorithms using diagnostic codes and confirmed by chart review. Cox proportional hazard models evaluated adipokines and incident fracture risk adjusting for age, sex, race, smoking status, body mass index (BMI), prednisone use, disease activity, comorbidity score, calendar year, osteoporosis history, and previous fracture. Results A total of 2,527 participants were included (89% male, mean age 72 years). There were 228 incident fractures over 27,540 person‐years of follow‐up (8.3 fractures per 1,000 person‐years). After adjustment, the risk of incident fracture was increased for high levels of leptin (hazard ratio [HR] = 1.47; 95% confidence interval [CI] 1.15–1.90; P = 0.003), FGF‐21 [HR = 1.39; 95% CI 1.16–1.67; P < 0.001), and adiponectin (HR = 1.21; 95% CI 0.94–1.55), with the latter not achieving significance ( P = 0.13). Participants who had elevated levels of all three adipokines experienced twice the risk of fracture compared with those in whom none was elevated (HR = 2.17; 95% CI 1.27–3.70; P = 0.005). Conclusion Elevations in adipokines are associated with an increased risk of fracture in patients with RA, independent of other established risk factors including BMI, smoking, and prednisone use. This supports further investigation to understand whether this association is related to altered body composition or disrupted metabolic pathways.
Journals
2026 EN
Goodman Susan M. · Parides Michael · Cushing Solana
+11 more
Objective The synovial tissue pathotype may determine the treatment response in rheumatoid arthritis (RA); however, biopsies are not widely available. Synovial fluid is a promising tissue surrogate. Our purpose was to compare RA synovial fluid cell counts with histopathology and use synovial fluid to predict tissue inflammation. Methods Synovial fluid and tissue were collected during knee arthroplasty. Patients were stratified based on their medication treatment history. Synovial lymphocytic inflammation (SLI) was graded from low to high. Synovial fluid white blood cell (WBC) count and differentials were performed in the clinical laboratory. Descriptive statistics, correlations, receiver operating characteristic curve analysis, and multivariable regression were performed to determine the associations with tissue SLI. Results Sixty‐four patients with RA had paired synovial tissue and synovial fluid data available. The mean Clinical Disease Activity Index (CDAI) score was 17.9. High tissue SLI was observed in 29 patients, and low SLI was observed in 35 patients, with roughly equal distribution among treatment groups. The mean synovial fluid WBC count was 5,661 cells/μL and was not correlated with CDAI but correlated positively with SLI and percentage polymorphonuclear cells (PMN%). Synovial fluid WBC count ≥1,400 cells/μL was sensitive (0.86) and specific (0.91) for high SLI (area under the curve 0.91). In a multivariable regression, PMN% was associated with high SLI (odds ratio [OR] 1.46 [95% confidence interval (CI) 1.14–1.85]). Synovial fluid monocyte percentage was negatively associated with high SLI (OR 0.44 [95% CI 0.27–0.73]). Conclusion Synovial fluid WBC count is sensitive and specific for differentiating high and low lymphocytic synovial inflammation. Further analysis of the synovial fluid as it relates to the adjacent tissue in different cohorts is needed.
Journals
2026 EN
Sweezie Raquel · Goldsmith Charles H. · Cao Xingshan
+5 more
Objective Prompt referral to a rheumatologist is essential for the prevention of joint damage in people with inflammatory arthritis (IA). We investigated whether rheumatology referrals can improve triage if additional information from two self‐assessment tools, namely the tender joint count (TJC) and the Early Inflammatory Arthritis Detection Tool (EIADT), was included with the referral letter. Methods Newly referred patients with no history of IA were recruited from two rheumatology practices. All patients were randomly allocated within a 2 × 2 factorial design to one of the following four groups: (1) no self‐assessment, (2) TJC + EIADT, (3) TJC, and (4) EIADT. Participants were blinded to group allocation. Primary outcome was urgency rating, which was either 0 to 4 weeks, 4 to 6 weeks, 6 to 12 weeks, or nonurgent (>12 weeks). For each patient, an urgency rating was assigned to each of the following: (1) referral letter, (2) referral letter plus self‐assessment, and (3) clinical assessment. Results Two hundred two patients were recruited and allocated across the four groups. Compared to referral letter alone, adding self‐assessment to the referral letter significantly increased the number of participants marked nonurgent in the EIADT group ( P < 0.05, McNemar‐Bowker test), but not in any of the other groups. Also, in the EIADT group, clinical assessment did not significantly increase the number of nonurgent ratings compared to referral letter plus self‐assessment ( P ≥ 0.05, McNemar‐Bowker test). Conclusion Including the EIADT with the referral letter may improve triage for new referrals.
Journals
2026 EN
Bermudez Julien · Heim Xavier · Kaspi Elise
+12 more
Objective Systemic sclerosis (SSc) is a severe autoimmune disease, with occupational exposure being a significant risk factor. Because CD146 was recently identified as a driver of fibrosis in SSc through regulation of the Wnt/reactive oxygen species interplay, we hypothesized that it is a major autoimmune target in this disease. Methods We developed an in‐house ELISA test to detect anti‐CD146 autoantibodies (AACD146), which was confirmed by immunoprecipitation and Western blotting. AACD146 positivity was assessed in the sera of patients with SSc compared with healthy controls. A validation cohort of workers exposed to asbestos or silica was evaluated and compared to patients with pulmonary cancer and healthy controls without any occupational exposure. Results Detection of AACD146 was assessed by ELISA and confirmed with Western blot and an absorption test. In the first cohort, the prevalence of positive AACD146 was significantly higher in patients with SSc (n = 14 of 93; 15%) than in controls (n = 2 of 40; 5%). Interestingly, among patients with SSc, positive AACD146 were associated with male sex ( P = 0.04) and occupational exposure to silica ( P = 0.009), with a sensitivity of 57% and specificity of 88% for occupational exposure. Results were confirmed in a validation cohort, in which positive AACD146 were found in 57% (n = 13 of 23) of patients with professional exposure. The frequency of AACD146 was significantly higher compared to controls ( P = 0.03) and to patients with a history of cancer ( P = 0.02). Conclusion We demonstrated that AACD146 are detectable in patients with SSc and are linked to male workers with occupational dust exposure. AACD146 are the first biomarkers associated with occupational exposure in SSc, with potential implications for preventive medicine.
Journals
2026 EN
Zhao Zirui · Fan Zunhao · Yang Zhaoxia
+2 more
ABSTRACT The long‐duration energy storage (LDES) technologies are being developed to cope with the inherent intermittency of solar and wind power as renewable sources. Iron–air batteries (IABs), which leverage earth‐abundant iron and oxygen, have emerged as a transformative LDES solution due to their ultralow projected cost, inherent non‐flammability, exceptional theoretical energy density, and minimal environmental footprint. This review begins with an overview of the fundamental principles and technical development history of IABs, followed by a comprehensive analysis of their current research landscape. In particular, ongoing challenges and advances in critical components including metal electrodes, electrolytes, and cell structures have been focused on to provide insights into redox kinetics‐improving the mechanism of iron‐based anode. These advances facilitate the scaling up of IABs and their integration with renewable infrastructure, thereby advancing the sustainable development of renewable energy.
Journals
2026 EN
Hossen Md Shahabul · Islam Tarikul · Hasan Md. Zahid
+3 more
ABSTRACT Activated carbon (AC) is a vital porous material with a longstanding history of utilization as an adsorbent. Typically manufactured from fossil precursors such as coal and petroleum coke, its production raises concerns about sustainability and carbon dioxide emissions. In response, biomass has become an appealing, readily accessible renewable resource for AC production, providing a means to support circular economy models by valorizing waste streams. This review provides a comprehensive and critical overview of the progression from biomass to multifunctional activated materials carbon. We carefully analyze integrated production methods, including carbonization and various activation techniques (chemical, physical, physicochemical, and microwave), assessing their advantages and disadvantages, as well as their effects on key parameters such as surface area, pore volume, and yield. Furthermore, we critically evaluate the impact of synthesis parameters like temperature, duration, and impregnation ratio on the final properties of carbons. Moving beyond traditional adsorption, this review highlights cutting‐edge applications of biomass‐derived activated carbon, particularly in sustainable energy storage (e.g., supercapacitors, sodium‐ion batteries, and lithium‐ion batteries) and environmental remediation (removing dyes, heavy metals, pharmaceuticals, and other pollutants from wastewater). This review synthesizes extensive information to guide the design of high‐performance, biomass‐derived AC for specific multifunctional uses.