Objective:To explore the clinical and genetic characteristics of three children with Leguis syndrome.Methods:Three children suspected as Legius syndrome at the Henan Children′s Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:All of the children (including 2 females and 1 male, and aged 4 years and 6 months, 8 years, and 14 years and 8 months, respectively) had typical café de lait spots. Child 1 also had precocious puberty, and children 2 and 3 had short statures. Genetic testing revealed that all of them had harbored heterozygous variants of the SPRED1 gene, including c. 751C>T (p.Arg251Ter194) in child 1, c. 229A>T (p.Lys77Ter368) in child 2, and c. 1044_1046delinsC (p.R349fs *11) in child 3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 751C>T (p.Arg251Ter194) variant was predicted to be likely pathogenic, whilst the other two were known pathogenic variants. Conclusion:All of the three children were diagnosed with Leguis syndrome due to variants of the SPRED1 gene, which had manifested as multiple café de lait spots in conjunct with precocious puberty or short statures.

Objective:To explore the potential categories of psychological distress in spousal caregivers of stroke patients and differences in quality of life between categories, in order to provide a theoretical basis for early clinical identification and provision of individualized and targeted interventions for psychological distress in spousal caregivers of stroke patients and improvement of their quality of life.Methods:A total of 207 spouse caregivers of stroke patients hospitalized in three class 1-Grade A hospitals in Yinchuan city of Ningxia Hui Autonomous Region, who met the inclusion and exclusion criteria were selected from December 2020 to July 2021 by convenience sampling method as study subjects. The general information questionnaire, Kessler Psychological Distress Scale, and the Mos 36-Item Short from Health Survey were used for a cross-sectional survey.Results:A total of 203 spousal caregivers of stroke patients were finally investigated, 46 males and 157 females with a age of (58.65 ± 9.66) years. Psychological distress among spousal caregivers of stroke patients was categorized into 3 potential categories:no distress group (40%, 81/203), listlessness group (45%, 91/203) and helplessness and restlessness group (15%, 31/203). The psychological distress subgroup was a factor influencing the quality of life of spousal caregivers of stroke patients ( t=-10.03, P<0.05), explaining 33.0% of the variance in quality of life. Conclusions:Psychological distress in spousal caregivers of stroke patients is significantly heterogeneous. Those in the helplessness and restlessness group have the lowest quality of life and should be given focused attention and early intervention.

Objective To investigate the relationship between serum leucine-rich a-2 glycoprotein-1(LRG1),transforming growth factor-β1(TGF-β1)and the carotid intimal middle layer thickness(IMT)and short-term poor prognosis in acute cerebral infarction(ACI).Methods A total of 123 patients with ACI who were treated in Guangji Hospital of Suzhou from January 2020 to January 2023 were selected,and the patients were divided into normal group(23 cases),thickened group(30 cases)and plaque group(70 cases)according to the IMT,and 35 healthy physical examiners in Guangji Hospital of Suzhou during the same period were se-lected as the health control group,and the serum LRG1,TGF-β1 levels and IMT of 4 groups were compared.The patients were followed up for 3 months and divided into good prognosis group(75 cases)and poor prog-nosis group(48 cases)according to the prognosis.The correlation between serum LRG1,TGF-β1 and IMT was analyzed by Pearson method.Univariate and multivariate Logistic regression were used to analyze the risk factors of short-term poor prognosis in ACI patients.The receiver operating characteristics(ROC)curve was used to analyze the predictive value of serum LRG1 and TGF-β1 for the short-term poor prognosis of ACI.Re-sults The serum LRG1 level in health control group,normal group,thickened group and plaque group in-creased sequentially,and TGF-β1 level decreased sequentially(P＜0.05).Pearson correlation analysis showed that serum LRG1 was positively correlated with IMT,while TGF-β1 was negatively correlated with IMT(P＜0.05).Age,proportion of patients with diabetes,the National Institutes of Health Stroke Scale(NIHSS)score at admission,low-density lipoprotein cholesterol(LDL-C),fasting plasma glucose(FPG),white blood cell count(WBC),C-reactive protein(CRP)and serum LRG1 levels in the poor prognosis group were higher than those in the good prognosis group(P＜0.05),time from onset to thrombolysis was longer than that in the good prognosis group(P＜0.0.05),while the serum TGF-β1 level was lower than that in the good prognosis group(P＜0.05).Multivariate Logistic regression analysis showed that high NIHSS score,long time from onset to thrombolysis,elevated serum LRG1 level and decreased TGF-β1 level were risk factors for short-term poor prognosis in ACI patients(P＜0.05).ROC curve results showed that the area under the curve of the sin-gle and combined detection of serum LRG1 and TGF-β1 for predicting the short-term prognosis of ACI pa-tients were 0.824,0.708 and 0.902,respectively.Conclusion ACI patients have elevated serum LRG1 levels and decreased TGF-β1 levels.Serum LRG1 and TGF-β1 levels are closely related to the IMT and the short-term prognosis of ACI patients,and the combined detection of serum LRG1 and TGF-β1 levels have high ref-erence value for predicting the short-term poor prognosis of ACI patients.

Objective:To analyze the status quo of type D personality, intolerance of uncertainty and family support in first-episode stroke patients, and to explore the mediating role of family support between type D personality and intolerance of uncertainty in first-episode stroke patients, in order to provide reference for formulating relevant clinical intervention measures to promote the physical and mental health of first-episode stroke patients.Methods:This study was a cross-sectional investigation. A total of 300 patients with acute first-episode stroke who met the inclusion and exclusion criteria in the Department of Neurology of the General Hospital of Ningxia Medical University and the First People′s Hospital of Yinchuan from May 2023 to September 2023 were selected as the study objects by convenience sampling method. The general data questionnaire, Type D personality Scale-14, Family Caring Index Scale and the Intolerance of Uncertainty Scale were used to investigate them. Pearson correlation analysis was used to test the correlation between variables, and SPSS plug-in PROCESS 3.5 was used to test the mediation effect.Results:Finally, 300 questionnaires were effectively collected, including 228 males and 72 females. Patients aged ≥ 60 years old were the majority, accounting for 49.3% (148/300). The detection rate of type D personality in the first stroke patients was 37.3% (112/300), and the total score of Type D personality inventory, family support and intolerance of uncertainty of type D personality in the first stroke patients were (22.16 ± 9.95), (6.40 ± 2.23), (27.82 ± 7.93) points. The correlation analysis results showed that the intolerance of uncertainty of type D personality in the first stroke patients was positively correlated with type D personality scores ( r=0.675, P<0.001). There was a negative correlation with family support score ( r=-0.644, P<0.001). The results of mediating effect analysis showed that family support played a partial mediating role in the relationship between type D personality and intolerability of uncertainty in first-stroke patients, and the mediating effect accounted for 34.94% of the total effect. Conclusions:The mediating role of family support between type D personality and intolerability of uncertainty in first-stroke patients is established. In the future, the level of family support of patients can be continuously improved to reduce their intolerability of uncertainty, so as to promote the physical and mental health of patients and improve their quality of life.

ObjectiveTo investigate the efficacy and safety of cinobufagin tablets combined with thalidomide/dexamethasone （TD） regimen in the treatment of newly diagnosed multiple myeloma （NDMM） with phlegm and stasis obstruction. MethodsThe clinical data of 50 patients with NDMM of phlegm and stasis obstruction who were hospitalized at the Jiangsu Province Hospital of Chinese Medicine from June 1st， 2015 to July 31th， 2019 were retrospectively analyzed， and they were divided into a control group （bortezomib/dexamethasone-containing regimen， 27 cases） and an observation group （cinobufagin tablets combined with TD regimen， 23 cases）. The clinical efficacy and safety were compared between the two groups after two or three courses of treatment. The primary outcomes were clinical remission rate including overall response rate and deep remission rate， one-year and two-year overall survival rate， and adverse effects. The secondary outcomes were the proportion of plasma cells in bone marrow， hemoglobin， β2-microglobulin， lactate dehydrogenase， serum creatinine， blood urea nitrogen， bone pain score， and KPS functional status score （KPS score） before and after treatment. ResultsIn terms of clinical efficacy， there was no statistically significant difference （P＞0.05） in the overall response rate ［the observation group 69.57%（16/23） vs the control group 70.37% （19/27）］ and deep remission rate ［the observation group 56.52% （13/23） vs the control group 55.56% （15/27）］ between groups after the treatment. The one-year overall survival rates of the observation group and the control group were 90.9% and 92.4%， and the two-year overall survival rates were 81.8% and 80.9% respectively， with no statistically significant differences between groups （P＞0.05）. During the treatment， no renal function injury occurred in both groups. The incidence of peripheral nerve injury in the observation group was 8.70%， which was lower than 48.15% in the control group （P＜0.01）. After the treatment， the proportion of myeloma plasma cells， β2-microglobulin， serum creatinine level， and bone pain score decreased， while the hemoglobin level and KPS score increased in both groups （P＜0.05 or P＜0.01）. Compared between groups after treatment， the bone pain score of the observation group was lower than that of the control group， while the KPS score was higher than that of the control group （P＜0.05）. ConclusionThe clinical efficacy of cinobufagin tablets combined with TD in the treatment of NDMM is equivalent to bortezomib/dexamethasone-containing regimen， but the former is more helpful in relieving the pain and improving the quality of life， and has better safety.

Objective:To evaluate the clinical efficacy and safety of hematoporphyrin monomethyl ether (HMME) -mediated photodynamic therapy (PDT) in the treatment of facial port-wine stains (PWS) in children with Sturge-Weber syndrome (SWS) .Methods:A retrospective analysis was conducted based on the clinical data from SWS children treated with HMME-PDT at the Department of Dermatology, Children's Hospital, Capital Institute of Pediatrics from December 2020 to January 2022. HMME was intravenously injected at a dose of 5 mg/kg, followed by the irradiation of SWS lesions with a 532-nm light-emitting diode light source, and the treatment interval was 8 weeks. The efficacy of HMME-PDT for SWS was evaluated based on the subsidence of erythema and changes in the number and density of blood vessels under a dermoscope before and after treatment; adverse events after treatment were recorded. Fisher's exact test was used to analyze differences in efficacy.Results:A total of 15 children with SWS were included, comprising 7 males and 8 females, with an average age of 4.74 years (range, 1 - 14 years). There were 10 cases of clinical phenotype Ⅰ and 5 cases of type Ⅱ; 10 patients were accompanied by glaucoma, 6 by epilepsy, and 10 showed abnormalities on craniocerebral imaging. After HMME-PDT treatment, 4 out of 15 patients achieved complete remission of SWS lesions, 3 showed marked improvement, and 5 achieved improvement. Among 8 cases receiving 2 sessions of treatment, 1 achieved marked improvement and 4 showed improvement; among 7 cases receiving 3 or more sessions of treatment, 4 achieved complete remission, 2 achieved marked improvement, and 1 showed improvement; the proportions of patients achieving complete remission and marked improvement were significantly higher among those receiving 3 or more sessions of treatment than those receiving 2 sessions (both P < 0.05). Among 7 patients with pink-type PWS, 1 recovered completely, 2 achieved marked improvement, and 4 showed improvement; among 4 patients with purplish-red-type PWS, 3 recovered completely and 1 showed marked improvement; among 4 patients with thickened-type PWS, 1 achieved improvement; there was a significant difference in the proportions of patients achieving marked improvement or improvement among the patients with different types of PWS (both P < 0.05). Among 14 patients with lesions involving the central face region, 4 achieved marked improvement and 2 showed improvement; among 15 with lesions involving the lateral face region, 5 recovered completely, 3 achieved marked improvement, and 4 showed improvement; the recovery rate of lesions was higher in the lateral face region than in the central face region ( P < 0.05). Under a dermoscope, the skin lesions showed 4 vascular patterns: short rod-shaped vessels in 3 cases, linear vessels in 4, reticular vessels in 5, and mixed-type vessels in 3. The 3 patients with short rod-shaped vessels all recovered completely; among the 4 patients with linear vessels, 2 achieved marked improvement, and 2 showed improvement; among the 5 patients with reticular vessels, 1 recovered completely, 1 achieved marked improvement, and 3 showed improvement; the 3 patients with mixed-type vessels all showed poor response to the treatment; the proportions of patients who recovered completely and those who achieved improvement significantly differed among the patients with 4 different vascular patterns (both P < 0.05). All the children experienced varying degrees of pain, swelling, purpura, and crusting after treatment, but none exhibited exacerbation of ocular or neurological complications. Conclusion:HMME-PDT was safe and effective in the treatment of PWS in children with SWS, and its efficacy was related to the number of treatment sessions, lesion types and locations.

Objective:To explore the alterations in functional connectivity density (FCD) resulted from mild cognitive impairment (MCI) and their correlations with cognitive scores in various cognitive domains in patients with Parkinson's disease (PD).Methods:Forty-three PD patients admitted to Department of Neurology, Sixth Affiliated Hospital of Nantong University from January 2022 to April 2024 were selected and divided into PD-MCI group (MoCA scores<26) and PD with normal cognition (PD-NC) group (MoCA scores≥26) according to Montreal Cognitive Assessment (MoCA). Another 23 middle-aged and elderly healthy volunteers (HC group) matched with PD patients in age, gender and education level were recruited at the same period. Resting-state functional MRI (rs-fMRI) data were collected and whole brain FCD was calculated. Differences of clinical data, whole brain FCD, and FCD in brain regions with significantly different FCD among the 3 groups were compared. Efficiency of FCD in brain regions with significantly different FCD between PD-MCI group and PD-NC group in differentially diagnosing PD-MCI and PD-NC was analyzed by receiver operating characteristic (ROC) curve. Pearson correlation was used to the analyze the correlations of FCD in brain regions with significantly different FCD with MoCA score and cognitive scores in various cognitive domains.Results:Among the 43 patients, 23 were into the PD-MCI group and 20 into the PD-NC group. PD-MCI group had significantly lower scores in the visuospatial and executive function, abstraction, and delayed memory cognitive domains than PD-NC group ( P<0.05). Brain regions with significantly different FCD among the 3 groups were the right parahippocampal gyrus, left gyrus rectus, right rolandic operculum, left middle occipital gyrus, right precentral gyrus, left middle frontal gyrus, and left medial superior frontal gyrus. Compared with the HC group, the PD-MCI group and PD-NC group had significantly increased FCD at the right parahippocampal gyrus, left gyrus rectus and right rolandic operculum, statistically decreased FCD at the right precentral gyrus, left middle frontal gyrus, and left medial superior frontal gyrus ( P<0.05). Compared with the HC group, the PD-MCI group had significantly increased FCD at the left middle occipital gyrus ( P<0.05). Compared with the PD-NC group, the PD-MCI group had significantly decreased FCD at the right parahippocampal gyrus, and statistically increased FCD at the left middle occipital gyrus and left middle frontal gyrus ( P<0.05). Area under ROC curve (AUC) of FCD in brain regions with significantly different FCD in discriminating PD-MCI and PD-NC was 0.878, with sensitivity of 90.0% and specificity of 91.3%. FCD at right parahippocampal gyrus, left middle occipital gyrus and left middle frontal gyrus was negatively correlated with MoCA score ( P<0.05); FCD at right parahippocampal gyrus was positively correlated with cognitive scores in the visuospatial and executive function, and delayed memory domains ( P<0.05); FCD at left middle occipital gyrus was negatively correlated with cognitive scores in the executive function and visual-spatial skills, and abstraction domains ( P<0.05); FCD at the left medial frontal gyrus was negatively correlated with cognitive scores in the visuospatial and executive function, abstraction and delayed memory domains ( P<0.05). Conclusions:Abnormal FCD can be noted in some brain regions of PD patients, enjoying differences between PD-MCI patients and PD-NC patients. Combined FCD in brain regions with significantly different FCD has high value in differentially diagnosing PD-MCI and PD-NC, and FCD in brain regions with significantly different FCD is correlated with cognitive function changes in PD patients.

Atrial fibrillation (AF) is one of the most common arrhythmias. Studies have shown that there is a significant correlation between inflammation and AF. Pathogenic microbial infection has long been considered the most likely factor to trigger and maintain the inflammatory process. In recent years, with the development of molecular biology technology, more and more evidence shows that some bacteria and viruses can cause AF. The research on AF and pathogens has gradually become a hot topic in recent years.

Objective:To explore the current situation and influencing factors of burnout among the primary caregivers of stroke patients, so as provide a basis for clinical intervention measures.Methods:From July 2022 to January 2023, convenience sampling was used to select 506 caregivers of stroke patients who met the inclusion and exclusion criteria from Yinchuan Rehabilitation Hospital and Wuzhong Rehabilitation Hospital as the study subject. The survey was conducted using the General Information Questionnaire, Burnout Scale of Stroke Patients' Caregiver, Multidimensional Scale of Perceived Social Support, Trait Coping Style Questionnaire, and Hospital Anxiety and Depression Scale.Results:The burnout score of caregivers for stroke patients was (72.83±14.32). Multiple linear regression analysis showed that the educational level and self-care ability of patients, social support, coping styles, and depression of primary caregivers were the influencing factors of burnout among primary caregivers in stroke patients ( P<0.05) . Conclusions:Attention should be paid to the burnout of the primary caregivers of stroke patients. Medical and nursing staff should focus on the primary caregivers who care for patients with low educational level and poor self-care ability, and improve their social support, encourage them to actively respond, relieve their depression, to alleviate their burnout.

This paper reviewed the mental health status, influencing factors, and intervention measures of the main caregivers of stroke patients both domestically and internationally, so as to provide reference for clinical work and research.