OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). METHODS: Five children with LAMSHF diagnosed at the Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital from April 2021 to December 2024 were selected as study subjects. Clinical data of the children was collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents. Whole exome sequencing (WES) was carried out to screen for variants. This study was approved by the Medical Ethics Committee of the Chinese PLA General Hospital (Ethics No.: S2025-411-01). RESULTS: All five children had presented with global developmental delay. Among them, two had manifestations of autism spectrum disorder, two had abnormal electroencephalogram findings, four had abnormal MRI results, and two had ocular abnormalities. WES has detected five novel variants in the SOX5 gene. Among these, c.1771G>C (p.Gly591Arg) was unreported previously. Sanger sequencing confirmed that none of the parents had carried the same variants, suggesting that they were all de novo variants. According to the guidelines from the American College of Medical Genetics and Genomics (ACMG), two nonsense variants and one missense variant were classified as pathogenic, whilst two missense variants were classified as likely pathogenic. CONCLUSION This study has clarified the correlation between the clinical phenotypes of five children with LAMSHF and variants of the SOX5 gene, which expanded the mutational spectrum of the SOX5 gene and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Male ; Female ; Phenotype ; Child, Preschool ; Child ; SOXD Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Infant

OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective To investigate the efficacy and safety of domestic RECO flow restoration device in endovascular treatment of acute ischemic stroke(AIS)patients in a real-world setting.Methods From January 2019 to June 2021,consecutive patients with acute intracranial vessel occlusion treated with RECO device from 8 stroke centers in Jiangsu Province were analyzed retrospectively.Baseline and clinical data were collected,including age,gender,baseline modified Rankin scale(mRS)scores,National Institutes of Health stroke scale(NIHSS)score on admission,trial of Org 10172 in acute stroke treatment(TOAST)classification,responsible location of occlusion,wake-up stroke,and medical history(hypertension,diabetes mellitus,hyperlipidemia,atrial fibrillation,coronary heart disease,peripheral arterial disease),smoking,and alcohol consumption.Furthermore,surgical parameters were collected,including time indicators(intervals between symptom onset,admission,puncture and recanalization),preoperative intravenous thrombolysis,general anesthesia,combination of aspiration,number of passes,first pass effect(modified thrombolysis in cerebral infarction[mTICI]grade 3 achieved with s single stent-based thrombectomy),rescue therapy(including thrombectomy with other stents,intra-arterial urokinase thrombolysis,intra-arterial application of tirofiban,emergency angioplasty[stent implantation,balloon dilatation,balloon dilatation combined with stent implantation]),balloon guided catheter and NIHSS score at discharge.The effectiveness indicators included immediate successful recanalization after the operation(mTICI grade ≥ 2b),complete recanalization(mTICI grade 3),and a good prognosis at 90 d after the operation(mRS score ≤2).The safety indicators included symptomatic intracranial hemorrhage(sICH)within 24 h after the operation,device-related intraoperative complications(such as thrombus escape,iatrogenic dissection,bleeding at the surgical site),and all-cause mortality within 90 days after the operation.All patients were divided into the anterior circulation occlusion group and the posterior circulation occlusion group according to the location of the responsible occluded vessel,and the effectiveness and safety indexes were analyzed.Results A total of 366 patients with AIS caused by intracranial vessel occlusion who underwent mechanical thrombectomy with the domestic RECO thrombectomy stent were included.The average age was(69±11)years,with 54 patients(14.8％)over 80 years old and 221 patients(60.4％)male.There were 296 patients in the anterior circulation occlusion group and 70 patients in the posterior circulation occlusion group.(1)Immediate successful recanalization(mTICI grade≥2b)was achieved in 337 patients(92.1％),and complete recanalization was achieved in 282 patients(77.0％)immediately after the operation.The average number of thrombectomies was(1.9±1.0)times,and 141 patients(38.5％)achieved recanalization on the first attempt.9 patients(2.5％)used other stents during the operation,and 65 patients(17.8％)underwent emergency angioplasty.The incidence of sICH within 24 h after the operation was 10.9％(40/366),the good prognosis rate at 90 d after the operation was 53.6％(196/366),and the all-cause mortality rate at 90 d after the operation was 23.0％(84/366).The incidence of device-related intraoperative complications was 3.6％(13/366).The median time from arterial puncture to recanalization was 75(52,110)min,and the median time from onset to recanalization was 370(280,488)min.(2)The good prognosis rates at 90 d after the operation in the anterior and posterior circulation occlusion groups were 55.1％(163/296)and 47.1％(33/70),respectively.The immediate successful recanalization rates were 93.2％(276/296)and 87.1％(61/70),respectively.The immediate complete recanalization rates were 79.1％(234/296)and 68.6％(48/70),respectively.The incidence of sICH within 24h after the operation was 12.2％(36/296)and 5.7％(4/70),respectively.The incidence of device-related intraoperative complications was 3.7％(11/296)and 2.9％(2/70),respectively.The all-cause mortality rate within 90 d after the operation was 21.6％(64/296)and 28.6％(20/70),respectively.There were no statistically significant differences between the two groups in the above aspects(all P＞0.05).Conclusions The application of the domestic RECO thrombectomy stent in the treatment of AIS caused by intracranial vessel occlusion can effectively and safely achieve vascular recanalization.The results of this study still need to be further verified by prospective controlled studies.

Objective To investigate the difference of spontaneous hemorrhagic transformation(HT)in enlarged perivascular space(EPVS)of different site and various dilation in patients with acute ischemic stroke.Methods A total of 595 patients admitted to our department acute ischemic stroke from January 2021 to June 2024 were recruited in this study.Brain magnetic resonance ima-ging was conducted in all of them within 72 h after admission,and their EPVS status was collect-ed.According to the results of brain MRI,they were divided into EPVS(384 cases)and non-EPVS(211 cases)groups.Based on EPVS site,the EPVS group was further assigned into basal ganglia(135 cases),centrum semiovale(132 cases),and midbrain(117 cases)subgroups,and based on the severity,the group was also into mild(155 cases)and severe(229 cases)subgroups.Brain CT or MRI examination was re-performed on the 7th to 10th day during hospitalization to investigate the intracranial condition,and then spontaneous HT was evaluated.The incidence of spontaneous HT in the EPVS patients of different sites and severity was analyzed and compared.Results The incidence of spontaneous HT was significantly higher in the EPVS group than the non-EPVS group(27.08％vs 8.53％,P＜0.01),and the incidence of spontaneous HT was also obviously higher in the basal ganglia subgroup than the centrum semiovale subgroup and then the midbrain subgroup(40.00％vs 21.97％vs 17.95％,P＜0.01).What's more,the severe subgroup had nota-bly higher incidence of spontaneous HT than the mild subgroup(33.19％vs 18.06％,P＜0.01).Conclusion There is difference in spontaneous HT among acute ischemic stroke patients with EPVS of different site and severity.EPVS in the basal ganglia and of severe level indicates a high-er risk of spontaneous HT,and the two features can better predict the incidence of spontaneous HT.

Objective To investigate the difference of spontaneous hemorrhagic transformation(HT)in enlarged perivascular space(EPVS)of different site and various dilation in patients with acute ischemic stroke.Methods A total of 595 patients admitted to our department acute ischemic stroke from January 2021 to June 2024 were recruited in this study.Brain magnetic resonance ima-ging was conducted in all of them within 72 h after admission,and their EPVS status was collect-ed.According to the results of brain MRI,they were divided into EPVS(384 cases)and non-EPVS(211 cases)groups.Based on EPVS site,the EPVS group was further assigned into basal ganglia(135 cases),centrum semiovale(132 cases),and midbrain(117 cases)subgroups,and based on the severity,the group was also into mild(155 cases)and severe(229 cases)subgroups.Brain CT or MRI examination was re-performed on the 7th to 10th day during hospitalization to investigate the intracranial condition,and then spontaneous HT was evaluated.The incidence of spontaneous HT in the EPVS patients of different sites and severity was analyzed and compared.Results The incidence of spontaneous HT was significantly higher in the EPVS group than the non-EPVS group(27.08％vs 8.53％,P＜0.01),and the incidence of spontaneous HT was also obviously higher in the basal ganglia subgroup than the centrum semiovale subgroup and then the midbrain subgroup(40.00％vs 21.97％vs 17.95％,P＜0.01).What's more,the severe subgroup had nota-bly higher incidence of spontaneous HT than the mild subgroup(33.19％vs 18.06％,P＜0.01).Conclusion There is difference in spontaneous HT among acute ischemic stroke patients with EPVS of different site and severity.EPVS in the basal ganglia and of severe level indicates a high-er risk of spontaneous HT,and the two features can better predict the incidence of spontaneous HT.

Objective To investigate the efficacy and safety of domestic RECO flow restoration device in endovascular treatment of acute ischemic stroke(AIS)patients in a real-world setting.Methods From January 2019 to June 2021,consecutive patients with acute intracranial vessel occlusion treated with RECO device from 8 stroke centers in Jiangsu Province were analyzed retrospectively.Baseline and clinical data were collected,including age,gender,baseline modified Rankin scale(mRS)scores,National Institutes of Health stroke scale(NIHSS)score on admission,trial of Org 10172 in acute stroke treatment(TOAST)classification,responsible location of occlusion,wake-up stroke,and medical history(hypertension,diabetes mellitus,hyperlipidemia,atrial fibrillation,coronary heart disease,peripheral arterial disease),smoking,and alcohol consumption.Furthermore,surgical parameters were collected,including time indicators(intervals between symptom onset,admission,puncture and recanalization),preoperative intravenous thrombolysis,general anesthesia,combination of aspiration,number of passes,first pass effect(modified thrombolysis in cerebral infarction[mTICI]grade 3 achieved with s single stent-based thrombectomy),rescue therapy(including thrombectomy with other stents,intra-arterial urokinase thrombolysis,intra-arterial application of tirofiban,emergency angioplasty[stent implantation,balloon dilatation,balloon dilatation combined with stent implantation]),balloon guided catheter and NIHSS score at discharge.The effectiveness indicators included immediate successful recanalization after the operation(mTICI grade ≥ 2b),complete recanalization(mTICI grade 3),and a good prognosis at 90 d after the operation(mRS score ≤2).The safety indicators included symptomatic intracranial hemorrhage(sICH)within 24 h after the operation,device-related intraoperative complications(such as thrombus escape,iatrogenic dissection,bleeding at the surgical site),and all-cause mortality within 90 days after the operation.All patients were divided into the anterior circulation occlusion group and the posterior circulation occlusion group according to the location of the responsible occluded vessel,and the effectiveness and safety indexes were analyzed.Results A total of 366 patients with AIS caused by intracranial vessel occlusion who underwent mechanical thrombectomy with the domestic RECO thrombectomy stent were included.The average age was(69±11)years,with 54 patients(14.8％)over 80 years old and 221 patients(60.4％)male.There were 296 patients in the anterior circulation occlusion group and 70 patients in the posterior circulation occlusion group.(1)Immediate successful recanalization(mTICI grade≥2b)was achieved in 337 patients(92.1％),and complete recanalization was achieved in 282 patients(77.0％)immediately after the operation.The average number of thrombectomies was(1.9±1.0)times,and 141 patients(38.5％)achieved recanalization on the first attempt.9 patients(2.5％)used other stents during the operation,and 65 patients(17.8％)underwent emergency angioplasty.The incidence of sICH within 24 h after the operation was 10.9％(40/366),the good prognosis rate at 90 d after the operation was 53.6％(196/366),and the all-cause mortality rate at 90 d after the operation was 23.0％(84/366).The incidence of device-related intraoperative complications was 3.6％(13/366).The median time from arterial puncture to recanalization was 75(52,110)min,and the median time from onset to recanalization was 370(280,488)min.(2)The good prognosis rates at 90 d after the operation in the anterior and posterior circulation occlusion groups were 55.1％(163/296)and 47.1％(33/70),respectively.The immediate successful recanalization rates were 93.2％(276/296)and 87.1％(61/70),respectively.The immediate complete recanalization rates were 79.1％(234/296)and 68.6％(48/70),respectively.The incidence of sICH within 24h after the operation was 12.2％(36/296)and 5.7％(4/70),respectively.The incidence of device-related intraoperative complications was 3.7％(11/296)and 2.9％(2/70),respectively.The all-cause mortality rate within 90 d after the operation was 21.6％(64/296)and 28.6％(20/70),respectively.There were no statistically significant differences between the two groups in the above aspects(all P＞0.05).Conclusions The application of the domestic RECO thrombectomy stent in the treatment of AIS caused by intracranial vessel occlusion can effectively and safely achieve vascular recanalization.The results of this study still need to be further verified by prospective controlled studies.

Objective To explore the influencing factors of device-related pressure injuries (DRPI) in critically ill patients, construct a risk prediction model, and validate its effectiveness. Methods A retrospective analysis was conducted on the clinical data of 136 critically ill patients. Based on the occurrence of DRPIs, the patients were divided into occurrence group (32 patients) and non-occurrence group (104 patients). Univariate analysis and binary Logistic regression analysis were used to investigate the influencing factors of DRPIs, and a binary Logistic regression model was constructed. The Hosmer-Lemeshow test was used to assess the goodness of fit of the model, and the area (AUC) under the receiver operating characteristic (ROC) curve was used to evaluate the predictive performance of the model.Additionally, the Bootstrap method was employed for internal validation of the model. Results Univariate analysis revealed statistically significant differences between the two groups in terms of age, diabetes, ICU stay duration, duration of non-invasive ventilation mask use, Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score, Braden scale score, use of vasoactive drugs, prone position ventilation, hemoglobin levels, and lactate levels (P < 0.05). Binary Logistic regression analysis indicated that age, diabetes, ICU stay duration, APACHE Ⅱ score, duration of non-invasive ventilation mask use, use of vasoactive drugs, prone position ventilation, lactate levels, Braden scale score, and hemoglobin levels were independent influencing factors for DRPIs in critically ill patients (P < 0.05). A binary Logistic regression model for predicting the risk of DRPIs in critically ill patients was constructed based on these independent factors. The overall prediction accuracy of the model was 99.26%. The Hosmer-Lemeshow goodness-of-fit test showed that the model had good fitness (χ² < 0.001, P>0.999). Internal validation using the Bootstrap method and ROC curve analysis showed that the AUC of the model for predicting DRPIs in critically ill patientswas 0.952, with a sensitivity of 87.5% and a specificity of 93.3%. Conclusion The risk prediction model for DRPIs in critically ill patients constructed in this study demonstrates good stability and predictive performance. It can assist clinical healthcare professionals in screening high-risk patients and formulating personalized intervention plans.

Objective:To perform adenovirus detection and genetic evolutionary analysis on specimens from a fever outbreak in Kunming city.Methods:Pharyngeal swabs from typical febrile patients were collected and tested for nucleic acids of 30 common respiratory pathogens using TaqMan Array Card technology. The full-length sequences of three important genes of adenovirus, Penton base, Hexon and Fiber, were amplified, sequenced and typed using Nanopore high-throughput sequencing. A phylogenetic tree was constructed. Molecular variations and genetic evolution of the three genes were analyzed.Results:Five specimens were collected and all of them tested positive for adenovirus and Haemophilus influenzae. The sequences of the full-length coding regions of the Penton base, Hexon and Fiber genes were obtained by Nanopore sequencing. The homology of the three gene sequences in the five specimens was 100.0%, 99.9%-100.0% and 100.0% in nucleotide sequences, and 100.0% in amino acid sequences. The three genes in the specimens had the highest homology with those of the reference strain of human adenovirus type 3 (HAdV3, accession number: AY599834) in nucleotide sequences, which was 98.6%, 98.7% and 98.9%, respectively. Results of the phylogenetic analysis of the three genes were basically consistent. These Kunming strains were clustered into an independent clade with the reference HAdV3 strain and had a distant relationship with the strains isolated in foreign countries and Taiwan, China in the early years. They were closely related to the domestic and foreign strains in recent years and highly homologous to the 2019 Japanese strain (accession: LC703523) and the Guangzhou strain (accession: MZ540961). Compared with the reference strain, these Kunming strains had five amino acid variations in Penton base, 10 in Hexon and 11 in Fiber. Conclusions:All of the adenovirus strains isolated in this outbreak belong to P3H3F3 type based on the full-length sequences of Penton base, Hexon and Fiber genes. They share high homology with the domestic and foreign HAdV3 strains, including the reference strain. Compared with the reference strain, several amino acid mutations are identified in these Kunming strains, and most of them are in the high variability region or functional regions. M7L in the Hexon protein is an unique amino acid mutation site of Kunming strains.

Objective     To explore the relationship between preoperative fasting plasma glucose (FPG) and postoperative pulmonary complications (PPCs) in type 2 diabetic patients undergoing elective thoracoscopic lung resection, and provide a reference for prediction and prevention of PPCs in the clinic. Methods     A retrospective analysis was performed on the type 2 diabetic patients who underwent elective thoracoscopic lung resection for the first time in our hospital from January 2017 to March 2021. According to the level of FPG one day before the operation, the patients were divided into three groups: a hypoglycemia group (<6.1 mmol/L), a medium level blood glucose group (≥6.1 mmol/L and <8.0 mmol/L) and a high blood glucose group (≥8.0 mmol/L). Besides, the patients were divided into a PPCs group and a non-PPCs group according to whether PPCs occurred. The risk factors for PPCs were analyzed by logistic regression analysis, and the predictive value of preoperative FPG level on PPCs was estimated by the area under the receiver operating characteristic curve (AUC). Results     A total of 130 patients were included, including 75 (57.7%) males and 55 (42.3%) females with an average age of 63.5±9.0 years. Logistic regression analysis showed that compared to non-PPCs patients, the level of preoperative FPG (P=0.023) and smoking history ratio (P=0.036) were higher and the operation time was longer (P=0.004) in the PPCs patients. High FPG level on preoperative day 1 and longer operation time were associated with PPCs risk. Besides, the preoperative FPG of 6.79 mmol/L was the threshold value to predict the occurrence of PPCs [AUC=0.653, 95%CI (0.559, 0.747), P=0.003]. Conclusion     There is a certain correlation between preoperative FPG level and postoperative PPCs, which may be used as an index to predict the occurrence of PPCs.

Objective:To explore the prevalence and influencing factors of allergic conjunctivitis in Baotou area at different times.Methods:A cross-sectional study was conducted in January 2021, 111 patients with allergic conjunctivitis who were admitted to the Department of Ophthalmology, the Second Affiliated Hospital of Baotou Medical College, Inner Mongolia University of Science and Technology in 2020 were selected as the research subjects. The basic information, allergic conditions, living habits and other information of the patients were obtained by self-made questionnaire. The pollen concentration and allergy related indicators(allergic duration and frequency, eye itching score, eye burn score, eye foreign body sensation score, tears score and the total scores) of 2019 and 2020 were analyzed by paired sample t-test. The pollen concentration of 2019 and 2020 were analyzed by Wilcoxon signed rank test. The allergy related indicators of different genders were analyzed by independent sample t-test. The allergy related indicators of different ages were analyzed by one-way analysis of variance. The relationship between the length of wearing masks and the allergy related indicators were analyzed by Spearman correlation analysis. Results:Among the 111 patients with allergic conjunctivitis, 54 were males and 57 were females, ranging in age from 8 to 69 years old, with a median age of 35 years old and an average age of (36.77±13.18) years old. The average pollen concentration in Baotou in 2019 was (125.35±222.64) grains/1 000 square millimeter, and the average pollen concentration in Baotou in 2020 was (107.38±137.29) grains/1 000 square millimeter. There was no significant difference in pollen concentration between the two years( Z=-0.178, P=0.859). The severity of allergic indicators in all patients in 2020 is significantly lower than in 2019( t values were 4.701,3.587,2.582,3.661,4.444,2.784,2.555,3.886,respectively, with P<0.05). The severity of allergic indicators in male patients is lower than that of female patients ( t values were -1.558, -1.257, -3.41, -3.085, -2.335, -2.897, -2.652, -4.124, respectively). The prevalence of allergic conjunctivitis dose not vary significant with age ( P values were 0.504, 0.095, 0.499, 0.265, 0.284, 0.655, 0.421, 0.976, respectively). In 2020, the average time that patients wear masks is (6.55±3.28) h/d, and there is a correlation with the difference in allergy duration ( r=0.191, P=0.045). Conclusion:The severity of allergic conjunctivitis in Baotou in 2020 was significantly improved compared with that in 2019, which may be related to masks wearing.