Objective:To investigate the current status of the implementation of home-based phototherapy (HBPT) in patients with vitiligo, and to analyze management needs among patients receiving HBPT.Methods:A questionnaire survey was conducted on the application of HBPT among patients with vitiligo who visited the outpatient clinic of the Hospital for Skin Diseases, Chinese Academy of Medical Sciences from December 2021 to November 2022. Additionally, the popularization and usage of HBPT as well as needs of patient management were investigated and analyzed in these vitiligo patients.Results:A total of 496 valid questionnaires were collected from 496 patients with vitiligo (241 males [48.5%] and 255 females [51.5%]) . Their ages at visit ranged from 2 to 67 (30.87 ± 12.36) years. The most commonly affected sites were the head and face (52.2%) , followed by hair (32.1%) , hands and feet (31.4%) , trunk (30.2%) , limbs (24.3%) , neck (19.5%) , and perineum (9.9%) . Among the participants, 320 (64.5%) were currently using or had used HBPT, and 352 (70.8%) expressed a willingness to learn more about HBPT usage guidelines and health education. Regarding the repigmentation outcomes after HBPT: among 312 patients, 54 (17.3%) reported complete recovery, 64 (20.5%) were markedly improved, 142 (45.5%) experienced improvement, and 52 (16.7%) showed no response. Adverse reactions occurred in 223 patients (71.5%) , of whom 28 (9.0%) experienced severe adverse reactions. The most desired guiding information was the adjustment method for phototherapy dosage and treatment duration (184/352, 52.3%) ; the most effective way to receive health education information was through verbal education by medical staff (177/352, 50.3%) .Conclusion:For vitiligo patients who were willing to accept and use HBPT, the most desired guiding information was the adjustment method for phototherapy dosage and treatment duration, and verbal health education by medical staff appeared to be the main way to obtain health education information.

Objective:To investigate protective effect and mechanism of Tim-3 on sepsis-induced acute lung injury(ALI)by pro-moting mitophagy of alveolar macrophages and inhibiting activation of NLRP3 inflammasome.Methods:LPS-stimulated mouse alveo-lar macrophage(MH-S)model and sepsis-induced ALI mouse model were constructed.Tim-3 siRNA interference technique was used to knock down Tim-3 expression in MH-S cells,and anti-Tim-3 antibody mice were injected intraperitoneally to block Tim-3 function.Western blot was used to detect protein expressions of NLRP3,ASC,cleaved-caspase-1 and mitophagy-related proteins(LC3B,P62,PINK1 and Parkin)in MH-S cells and lung tissue of mice with sepsis-induced ALI.Laser confocal fluorescence staining was used to measure ROS level and mitochondrial membrane potential of MH-S cells.Pathological examination of lung tissue was performed in mice with sepsis-induced ALI in each group,and degree of lung tissue injury was evaluated by Smith scoring system.Bronchoalveolar lavage fluid(BALF)and lung tissue were collected from mice with ALI induced by sepsis in each group.BCA protein quantification method was used to determine protein concentration in BALF.MPO activity in lung tissue was detected by colorimetry.MDA content in lung tissue was detected by TBA method.LC3B protein expression in lung tissue was detected by immunohistochemistry.Results:In mouse alveolar macrophages,Tim-3 knockdown could promote expressions of NLRP3,ASC,cleaved-caspase-1 and P62 proteins,increase ROS release,inhibit PINK1/Parkin pathway activation and LC3B protein expression,and reduce mitochondrial membrane potential.In mice with sepsis-induced ALI,Tim-3 functional blockade could promote expressions of NLRP3,ASC,cleaved-caspase-1 and P62 proteins in lung tissue,aggravate lung pathological injury and pulmonary edema,increase MPO activity and MDA content in lung tissue,and reduce positive rate of LC3B protein.Conclusion:Tim-3 plays a protective role in sepsis-induced ALI by promoting mitophagy in alveolar macrophages and inhibiting NLRP3 inflammasome activation via PINK1/Parkin.

Objective:To explore the split-face phenomenon in patients with bulbar-involved amyotrophic lateral sclerosis (ALS) through clinical and electrophysiological studies.Methods:A total of 52 clinically definite and clinically probable cases of bulbar-involved ALS, diagnosed according to the World Federation of Neurology El Escorial criteria, were retrospectively collected in the Third Central Hospital of Tianjin from September 2019 to November 2022. And 58 patients with idiopathic facial nerve paralysis with onset time≤7 days who visited the Department of Neurology of the Third Central Hospital of Tianjin during the same period were collected as control group. The firm eye closure (FC) score and cheek bulge (CB) score were used to assess the clinical involvement of facial muscles (dividing into facial muscle involvement group and non-facial muscle involvement group) and the presence of the split-face phenomenon (strong eye closure and weak cheek bulging) in ALS patients. The compound muscle action potential (CMAP) amplitudes of the bilateral orbicularis oculi and orbicularis oris muscles were measured using the Nicolet EDX Viking electromyography/evoked potential system. The CMAP amplitude ratio was calculated. The facial nerve electrophysiological differences were compared between ALS patients with bulbar involvement and patients with idiopathic facial nerve paralysis. The analysis of electrophysiological data across various groups was carried out utilizing the Kruskal-Wallis H test, while pairwise comparisons between groups were executed employing the Bonferroni correction method. Additionally, a stepwise binary Logistic regression analysis was implemented to ascertain the factors associated with facial muscle involvement in patients with bulbar-involved ALS. The receiver operating characteristic (ROC) curve was used to assess the diagnostic accuracy of facial nerve electrophysiological testing in diagnosing ALS in the presence of symptoms of facial muscle involvement. Results:Among the 52 ALS patients with bulbar involvement, there were 20 cases (38.5%) with facial muscle involvements, all of which were bilateral; 16 patients (30.8%) exhibited weakness solely in the ability to puff their cheeks, 1 patient (1.9%) presented with weakness exclusively in closing the eyes, and 3 patients (5.8%) experienced weakness in both closing the eyes and puffing the cheeks. The Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) score of the facial muscle involvement group was lower compared to the non-facial muscle involvement group (36.90±9.20 vs 40.75±5.21, t=2.419, P=0.019), while the FC score and CB score were higher in the facial muscle involvement group [FC score: 0(0, 1) vs 0(0, 0), U=5.854, P<0.001; CB score: 4(3, 4) vs 0(0, 0), U=9.069, P<0.001], showing statistically significant differences. There was no statistically significant difference in the CMAP amplitude of the orbicularis oculi muscle between the facial muscle involvement group and the healthy side of the idiopathic facial nerve paralysis group, the affected side of the idiopathic facial nerve paralysis group, and the non-facial muscle involvement group (all P>0.05). The CMAP amplitude of the orbicularis oris muscle in the facial muscle involvement group [1 100.00 (775.00, 1 375.00) μV] was lower than that in the healthy side of the idiopathic facial nerve paralysis group [1 800.00 (1 400.00, 2 300.00) μV] and the non-facial muscle involvement group [1 555.00 (1 202.50, 1 980.00) μV], with statistically significant differences ( H=5.884, P<0.001; H=4.114, P<0.001). There was no statistically significant difference in the CMAP amplitude of the orbicularis oris muscle between the facial muscle involvement group and the affected side of the idiopathic facial nerve paralysis group ( P>0.05). The CMAP amplitude ratio of the orbicularis oculi/orbicularis oris muscles in the facial muscle involvement group [0.83(0.51, 1.14)] was higher than that in the healthy side of the idiopathic facial nerve paralysis group [0.55(0.39, 0.73)], the affected side of the idiopathic facial nerve paralysis group [0.57(0.40, 0.73)], and the non-facial muscle involvement group [0.60(0.42, 0.71)], with statistically significant differences ( H=-3.440, P=0.003; H=-3.433, P=0.004; H=-3.225, P=0.008). Logistic regression analysis revealed that the CMAP amplitude of orbicularis oris muscle ( OR=0.998,95% CI 0.997-0.999, P<0.001) and ALSFRS-R score ( OR=0.916,95% CI 0.857-0.979, P=0.010) were factors associated with facial muscle involvement in ALS patients with bulbar involvement. The ROC curve analysis results showed that the area under the curve (AUC) of the orbicularis oculi muscle CMAP was 0.629, the AUC of the orbicularis oris muscle CMAP was 0.838, and the AUC of the CMAP amplitude ratio of the orbicularis oculi/orbicularis oris muscles was 0.690 in the facial muscle involvement group. Conclusions:Patients with bulbar-involved ALS have split-face phenomenon characterized by strong eye closure and weak cheek bulging. When bulbar-involved ALS patients have symptoms of facial muscle involvement, the CMAP amplitude of the orbicularis oris muscle decreases significantly, whereas the CMAP amplitude of the orbicularis oculi muscle remains relatively stable, further illustrating the split phenomenon.

Objective:To analyze the clinical and electrophysiological characteristics of patients with sensory neuronopathies (SNN), and to evaluate the significance of electrophysiological markers in the diagnosis and assessment of disease progression.Methods:A retrospective analysis was performed to evaluate the clinical manifestations, electrophysiological characteristics, and spinal cord magnetic resonance imaging (MRI) features of 8 cases diagnosed with SNN at the Third Central Hospital of Tianjin between 2015 and 2023. The neurophysiological examination mainly included limb nerve conduction study (NCS), same core needle electrode electromyography, somatosensory evoked potential (SEP), skin sympathetic reflex (SSR), and contact heat evoked potential (CHEP).Results:Among the 8 cases with SNN, 7 cases exhibited asymmetrical onset and a non-length-dependent pattern. All the 8 cases presented with severe deep sensory ataxia, accompanied by superficial sensory abnormalities and tendon areflexia. Paraneoplastic SNN were the most prevalent etiological subtype (4 cases), all of whom presented peripheral neuropathy as the initial symptom. Among these 4 cases, malignancies were identified in 3 cases and 3 cases presented with anti-Hu antibodies. Among the remaining 4 patients, 2 cases were autoimmune and the other 2 cases were idiopathic. NCS results of the 8 cases revealed decrease or absence of sensory nerve action potential (SNAP) amplitudes, with normal sensory conduction velocities. Six cases showed abnormal SEP, including 2 cases of central damage and 4 cases of peripheral damage, 5 cases had abnormal SSR, and 2 cases exhibited abnormal CHEP. Motor nerve conduction studies were normal in all 8 cases. Six patients underwent spinal MRI, and 4 exhibited abnormal signals in dorsal columns.Conclusions:The hallmark clinical manifestation of SNN is sensory ataxia, characterized by substantial impairment of superficial sensation, typically manifesting in a non-length-dependent distribution. Beyond the widespread and significant reduction in SNAP amplitudes, SNN may also exhibit additional electrophysiological impairments, such as those observed in SEP, SSR and CHEP.SEP combined with spinal cord MRI can improve the detection rate for damages in the central sensory conduction pathway.

Objective:To evaluate the safety and efficacy of using small and ultra-small sized grafts for in situ auxiliary liver transplantation in the treatment of portal hypertension.Methods:A prospective single-arm cohort study was conducted. Patients who underwent liver transplantation at Beijing Friendship Hospital from December 2014 to July 2025 were included. Intraoperative portal vein pressure was routinely monitored, with the target regulation for portal vein blood flow set at<15 mmHg (1 mmHg=0.133 kPa) and follow-up continued until September 2025. The primary endpoints were the patient's status and graft survival. The secondary endpoints were small-for-size syndrome and perioperative complications. The small-for-size syndrome was graded according to the 2023 International Liver Transplantation Society consensus statement.Results:A total of 33 cases were enrolled. Among them, 22 had ultra-small size grafts, 11 had small-size grafts, 28 had living donor grafts, and five had split grafts. The graft-to-recipient weight ratio in living donor liver transplantation was 0.31%～0.79%, while in split liver transplantation it was 0.45%～1.02%. Intraoperative portal vein pressure of ≥15 mmHg was observed in 11 cases, who underwent portal vein blood flow adjustment via splenic artery ligation (2 cases), partial splenectomy (8 cases), and/or restrictive portocaval shunting (1 case), after which all patients achieved the target portal vein pressure. All cases completed at least one month of follow-up, with 28 cases following for more than one year, and the median follow-up period was 36.5 months. Early-stage postoperative small-for-size syndrome occurred in eight cases (24.2%, 8/33), all classified as grade A, with improvements following supportive treatment. Severe complications (Clavien-Dindo≥Ⅲ) occurred in three cases (9.1%, 3/33). The one-year survival rate was 92.9% (26/28). The overall survival rate at the end of follow-up was 90.9% (30/33). No patients experienced graft loss or death due to small-for-size syndrome. Graft tissue tested negative for hepatitis B core antibody and covalently closed circular DNA, and hepatitis B surface antigen seroconversion was achieved following second-stage residual liver resection and under a combined strategy of potent nucleos(t)ide analogs and hepatitis B immunoglobulin in ten cases of hepatitis B-related disease.Conclusions:With standardized portal vein blood flow monitoring and individualized portal vein blood flow adjustment, in situ auxiliary liver transplantation can safely and effectively use small and even ultra-small sized grafts, thereby significantly expanding graft sources and ensuring donor and recipient safety. These findings warrant further validation and promotion in multicenter controlled studies.

Purpose To investigate the sex differences of white matter damage in Alzheimer's disease(AD)and their association with cognitive impairment.Materials and Methods This retrospective study included 88 AD patients(48 females),71 amnestic mild cognitive impairment(aMCI)patients(39 females),and 95 healthy controls(63 females)recruited from the Memory Disorder Clinic at the First Affiliated Hospital of Anhui Medical University from September 2017 to July 2024.High-resolution three-dimensional T1 structure images and diffusion tensor imaging images were all obtained from each participant.The mean diffusivity(MD)and fractional anisotropy(FA)values of each white matter region were obtained,and the two-way ANOVA analysis was conducted to investigate brain regions with interaction effects between groups and sexes,those brain regions were then chosen as regions of interest for further correlation analysis with a series of cognitive scale scores.Results In terms of FA values,the right posterior corona radiata,right anterior limb of the internal capsule and left corticospinal tract showed interaction between sexes and cognitive groups(F=4.764,3.812,5.937,all P<0.05).The FA value of AD group was significantly lower than that of healthy control and aMCI group(all P<0.05),but there was no significant difference between healthy control and aMCI group(except the right anterior limb of the internal capsule,P=0.018).In AD group,FA values were significantly higher in women than in men in the previously described brain regions(all P<0.05),while there was no significant difference in FA values between male and female in healthy control and aMCI groups(except the left corticospinal tract,P<0.001).In terms of MD values,the right anterior limb of the internal capsule,right superior corona radiata and left external capsule showed interaction effect between sexes and cognitive groups(F=8.581,3.680,7.218,all P<0.05).The MD value of AD group was significantly higher than that of aMCI group(P<0.001),and aMCI group was higher than that of healthy control group(all P<0.05).In AD group,the MD values in the above brain regions were significantly higher in males than those in females(all P<0.01),while no significant difference was found between males and females in healthy control and aMCI groups(except for the left external capsule,P<0.05).For correlation analysis,the AD group was dimidiated into two groups by sex,the scores of the Montreal cognitive assessment,the Mini Mental state examination and the verbal fluency test of the female patient group were positively correlated with the FA values of the right posterior corona radiate(r=0.372,P=0.009;r=0.345,P=0.016;r=0.383,P=0.007),while the Mini Mental state examination and the verbal fluency test scores of female AD patient group were negatively correlated with the MD values of the right superior corona radiata(r=-0.360,P=0.012;r=-0.360,P=0.003).Conclusion Compared to the healthy control and MCI groups,white matter damage in AD patients shows sex differences and is associated with general cognitive and language functions impairment in female AD patients.

Objective:To investigate the current status of the implementation of home-based phototherapy (HBPT) in patients with vitiligo, and to analyze management needs among patients receiving HBPT.Methods:A questionnaire survey was conducted on the application of HBPT among patients with vitiligo who visited the outpatient clinic of the Hospital for Skin Diseases, Chinese Academy of Medical Sciences from December 2021 to November 2022. Additionally, the popularization and usage of HBPT as well as needs of patient management were investigated and analyzed in these vitiligo patients.Results:A total of 496 valid questionnaires were collected from 496 patients with vitiligo (241 males [48.5%] and 255 females [51.5%]) . Their ages at visit ranged from 2 to 67 (30.87 ± 12.36) years. The most commonly affected sites were the head and face (52.2%) , followed by hair (32.1%) , hands and feet (31.4%) , trunk (30.2%) , limbs (24.3%) , neck (19.5%) , and perineum (9.9%) . Among the participants, 320 (64.5%) were currently using or had used HBPT, and 352 (70.8%) expressed a willingness to learn more about HBPT usage guidelines and health education. Regarding the repigmentation outcomes after HBPT: among 312 patients, 54 (17.3%) reported complete recovery, 64 (20.5%) were markedly improved, 142 (45.5%) experienced improvement, and 52 (16.7%) showed no response. Adverse reactions occurred in 223 patients (71.5%) , of whom 28 (9.0%) experienced severe adverse reactions. The most desired guiding information was the adjustment method for phototherapy dosage and treatment duration (184/352, 52.3%) ; the most effective way to receive health education information was through verbal education by medical staff (177/352, 50.3%) .Conclusion:For vitiligo patients who were willing to accept and use HBPT, the most desired guiding information was the adjustment method for phototherapy dosage and treatment duration, and verbal health education by medical staff appeared to be the main way to obtain health education information.

Hand degloving injury represents one of the most severe forms of hand trauma, characterised by challenging treatment and a complex prognostic outcome. It is crucial to effectively utilise the degloved tissues in emergency or primary repair of a hand degloving injury. This consensus provides a comprehensive review of the existing literature on definition, classification, emergency assessment, debridement, judgment of skin viability, in situ repair of the degloved skin, and adjunctive treatment for degloving injury of hand. Based on conclusion of both domestic and international experiences, this expert consensus on the classification of hand degloving injury and the emergency repair with the avulsed skin is established, aiming to provide a guidance to surgeons on standardised treatment strategy and improve the management of hand degloving injury.

OBJECTIVE: To explore the genetic etiology of two fetuses with Mosaic variegated aneuploidy syndrome (MVA) in a pedigree. METHODS: A 30-year-old pregnant woman, who presented at the Center for Medical Genetics and Prenatal Diagnosis of Shandong Maternal and Child Health Care Hospital on November 16, 2023, was enrolled. Clinical data of the pedigree were collected, and peripheral blood samples from the parents and amniotic fluid samples from the two fetuses were obtained for genomic DNA extraction. Whole exome sequencing (WES) was performed on both fetuses, followed by Sanger sequencing for familial validation and pathogenicity analysis of candidate variants. Chromosomal karyotyping of the parents was conducted to quantify the proportion of premature chromatid separation (PCS). This study was approved by the Medical Ethics Committee of Shandong Maternal and Child Health Care Hospital (Ethics No. 2024-034). RESULTS: Both fetuses exhibited structural brain anomalies and developmental delays during the second trimester. Amniocyte karyotyping revealed low-level mosaic aneuploidy involving multiple chromosomes, while chromosomal microarray analysis (CMA) showed no abnormalities. Pregnancy termination was performed for fetus 1. WES identified compound heterozygous variants in BUB1B, i.e., c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A, in both fetuses. Sanger sequencing confirmed paternal inheritance of c.2363_2364del and maternal inheritance of ss804270619:G>A. According to the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen) Standards and Guidelines for the Interpretation of Sequence Variants, the c.2363_2364del variant was classified as likely pathogenic (PVS1 + PM2_Supporting). Parental karyotyping demonstrated PCS traits, with a higher proportion of abnormal metaphases in the father. CONCLUSION The compound heterozygous variants c.2363_2364del (p.S788Cfs*29) and ss804270619: G>A in BUB1B may constitute the genetic etiology of the two MVA fetuses in this pedigree.
Humans ; Female ; Pregnancy ; Adult ; Mosaicism ; Protein Serine-Threonine Kinases/genetics* ; Chromosome Disorders/diagnosis* ; Pedigree ; Heterozygote ; Prenatal Diagnosis ; Aneuploidy ; Male ; Fetus ; Karyotyping

INTRODUCTION: Lecanemab has shown promise in treating early Alzheimer's disease (AD), but its safety and efficacy in Chinese populations remain unexplored. This study aimed to evaluate the safety and 6-month clinical outcomes of lecanemab in Chinese patients with mild cognitive impairment (MCI) or mild AD. METHODS: In this single-arm, real-world study, participants with MCI due to AD or mild AD received biweekly intravenous lecanemab (10 mg/kg). The study was conducted at Hainan Branch, Ruijin Hospital Shanghai Jiao Tong University School of Medicine. Patient enrollment and baseline assessments commenced in November 2023. Safety assessments included monitoring for amyloid-related imaging abnormalities (ARIA) and other adverse events. Clinical and biomarker changes from baseline to 6 months were evaluated using cognitive scales (mini-mental state examination [MMSE], montreal cognitive assessment [MoCA], clinical dementia rating-sum of boxes [CDR-SB]), plasma biomarker analysis, and advanced neuroimaging. RESULTS: A total of 64 patients were enrolled in this ongoing real-world study. Safety analysis revealed predominantly mild adverse events, with infusion-related reactions (20.3%, 13/64) being the most common. Of these, 69.2% (9/13) occurred during the initial infusion and 84.6% (11/13) did not recur. ARIA-H (microhemorrhages/superficial siderosis) and ARIA-E (edema/effusion) were observed in 9.4% (6/64) and 3.1% (2/64) of participants, respectively, with only two symptomatic cases (one ARIA-E presenting with headache and one ARIA-H with visual disturbances). After 6 months of treatment, cognitive scores remained stable compared to baseline (MMSE: 22.33 ± 5.58 vs . 21.27 ± 4.30, P = 0.733; MoCA: 16.38 ± 6.67 vs . 15.90 ± 4.78, P = 0.785; CDR-SB: 2.30 ± 1.65 vs . 3.16 ± 1.72, P = 0.357), while significantly increasing plasma amyloid-β 42 (Aβ42) (+21.42%) and Aβ40 (+23.53%) levels compared to baseline. CONCLUSIONS: Lecanemab demonstrated a favorable safety profile in Chinese patients with early AD. Cognitive stability and biomarker changes over 6 months suggest potential efficacy, though high dropout rates and absence of a control group warrant cautious interpretation. These findings provide preliminary real-world evidence for lecanemab's use in China, supporting further investigation in larger controlled studies. REGISTRATION ClinicalTrials.gov , NCT07034222.
Humans ; Alzheimer Disease/drug therapy* ; Male ; Female ; Aged ; Middle Aged ; Cognitive Dysfunction/drug therapy* ; Aged, 80 and over ; Amyloid beta-Peptides/metabolism* ; Biomarkers ; East Asian People