OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms. METHODS: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080). RESULTS: The pregnant woman (G₃) had a history of adverse pregnancy outcomes. During her first pregnancy (G₁), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G₂), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G₃), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46,X?, and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46,X?,rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46,X?[27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46,X?,inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1,(1~22)×2. The karyotype of the woman was 46,XX,inv(11)(p15q13), and that of her husband was 46,XY. A review of 12 similar cases (including G₁) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). CONCLUSION Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 11/genetics* ; East Asian People/genetics* ; Karyotyping ; Mosaicism ; Pedigree ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis

OBJECTIVE To evaluate the current status of bacterial contamination control and prevention measures and construction of quality control laboratory in Chinese blood station,and find out the problems and put forward the improvement suggestions.METHODS A total of 41 questionnaires were sent out for performance comparison by secretariat of working group of Chinese blood collection and supply institutions from May 2024 to Jun.2024,and 40 questionnaires were received(14 blood centers and 26 central blood stations),39 of which were valid.The questionnaire survey covered four aspects,including disinfection and surveillance,construction of quality control laboratory,sterility test for blood component and monitoring of blood transfusion reactions.The data were pro-cessed through itemized statistics and descriptive analysis.RESULTS Totally 84.62％of the blood stations used io-dine-containing disinfectants for arm disinfection of the blood donors,and the monthly monitoring was the primary frequency.Among the quality control laboratories,43.59％were registered as biosafety level 2,while 35.90％lacked biosafety registration.As for the pressure settings of the laboratories,64.10％were under normal pres-sure,15.38％under negative pressure and 17.95％under positive pressure.In the sterility test,the utilization rate of ultra clean operating tables and biological safety cabinets was 48.72％,the blood stations that did not have the indoor quality control accounted for 79.49％,and only 35.90％participated the external quality assessment.Regarding the approaches to confirm the positive result,25.64％of the blood stations adopted the re-peated tests,and 15.38％adopted the combination with positive culture bottle.The shortage of fund was the ma-jor restricted factor for the sterility test,and the confirmation of positive result was the fundamental difficulty.The blood stations with the feedback of insufficient transfusion reactions reported from hospitals ac-counted for 53.85％,while the blood stations that encountered suspected bacterial transfusion reactions with nega-tive culture results accounted for 25.64％.CONCLUSIONS The infeciton control and prevention measures and the construction of quality control laboratory vary significantly in Chinese blood stations.The incomplete biosafety registration,non-standardized sterility test operation and weak surveillance of blood transfusion reactions are the major existing problems.It is suggested that the investment should be increased to push forward the standardi-zation and complete the laboratory biosafety system,and a hospital-blood station closed loop coordination mecha-nism should be established so as to raise the blood safety.

Objective To improve the diagnosis and treatment of Streptococcus liver abscesses by analyzing the clinical presentations,antibiotic susceptibility,and treatment strategies of patients.Methods A retrospective analysis was conducted on 21 patients diagnosed with liver abscess caused by Streptococcus from June 2012 to June 2022.The data included demographic information,clinical characteristics,laboratory tests,imaging findings,treatment strategies,and outcomes.Results The 21 patients were 29 to 77 years of age,and 81.0％were male.Clinical manifestations included fever,chills,fatigue,and abdominal pain.Some patients also had headache and altered consciousness,indicating possible concomitant brain abscess.Hematogenous dissemination and biliary tract origin were the most common routes of infection.The predominant pathogen was Streptococcus anginosus group(76.2％).Single pathogen infection was found in 12 cases and mixed infection in 9 cases.All isolates were sensitive to penicillin,cefotaxime,vancomycin,and levofloxacin,but 36.4％(4/11)of the isolates showed resistance to erythromycin and clindamycin.Four patients developed metastatic abscesses,and two experienced septic shock.The main treatment approach was a combination of antibiotics and percutaneous liver puncture drainage,resulting in improvement in 18 patients.Conclusions Liver abscesses caused by Streptococcus are usually non-specific in terms of symptoms.Streptococcus anginosus group is the primary pathogen.Antibiotics combined with percutaneous drainage is an effective treatment approach.It is crucial for clinicians to be aware of potential brain abscesses and the necessity of early intervention.

Objective To investigate the efficacy and safety of compound cantharidis capsule combined with pemetrexed and platinum-based drugs in the treatment of elderly patients with advanced lungadenocarcinoma.Methods A total of 80 patients with advanced lung adenocarcinoma were retro-spectively selected as the study subjects.According to the treatment regimen,they were divided into chemotherapy group(treated with pemetrexed and platinum-based drugs)and traditional Chinese med-icine combined with chemotherapy group(treated with compound cantharidis capsule combined with-pemetrexed and platinum-based drugs),with 40 cases in each group.The short-term efficacy,serum tumor marker[carcinoembryonic antigen(CEA),carbohydrate antigen 72-4(CA72-4),carbohydrate antigen 125(CA125)]levels,and the incidence of adverse reactions were observed and compared between the two groups.The patients were followed up,and the progression-free survival(PFS)and overall survival(OS)of the two groups were recorded.Results The objective response rate(ORR)and disease control rate(DCR)in the traditional Chinese medicine combined with chemotherapy group were higher than those in the chemotherapy group,with statistically significant differences(P＜0.05).After treatment,the serum CEA,CA72-4 and CA125 levels in both groups were lower than those before treatment,and the levels in the traditional Chinese medicine combined with chemotherapy group were lower than those in the chemotherapy group,with statistically significant differences(P＜0.05).There was no statistically significant difference in the incidence of grade 3 to 4 adverse reac-tions between the two groups(P＞0.05).The progression-free survival rate and overall survival rate in the traditional Chinese medicine combined with chemotherapy group were higher than those in the chemotherapy group,with statistically significant differences(P＜0.05).Conclusion Compound cantharidis capsule combined with pemetrexed and platinum-based drugs can significantly improve the ORR and DCR,reduce serum tumor marker levels,prolong the survival of patients with ad-vanced lung adenocarcinoma,and has good safety.

Objective:To observe the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) at different frequencies on cognitive impairment due to high-altitude hypoxia.Methods:Sixty officers and soldiers displaying cognitive impairment in a hypoxic high-altitude environment were randomly divided into 15Hz, 20Hz and 25Hz groups, each of 20. They were given rTMS at those frequencies for 30 days. Before the stimulation and after 15 and 30 days, event-related potentials, latencies of mismatched negativity (MMN) and P300 signals were recorded. The participants′ cognition was also evaluated using the Montreal Cognitive Assessment Scale (MoCA). Correlation between the electrophysiological indexes and the MoCA scores was computed.Results:After 15 days, all had shorter MMN latencies, higher total MoCA scores and better memory scores. The only significant difference among the three groups was in the average memory scores. After 15 days, MMN latency was significantly negatively correlated with the memory scores in all three groups ( r=0.44 to -0.54). Conclusions:rTMS at frequencies above 15Hz can effectively relieve cognitive impairment, especially memory dysfunction, resulting from high-altitude hypoxia.

Objective:To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.Methods:A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080).Results:The pregnant woman (G 3) had a history of adverse pregnancy outcomes. During her first pregnancy (G 1), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G 2), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G 3), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46, X? , and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46, X? , rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46, X? [27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46, X? , inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1, (1~22)×2. The karyotype of the woman was 46, XX, inv(11)(p15q13), and that of her husband was 46, XY. A review of 12 similar cases (including G 1) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). Conclusion:Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.

Objective To improve the diagnosis and treatment of Streptococcus liver abscesses by analyzing the clinical presentations,antibiotic susceptibility,and treatment strategies of patients.Methods A retrospective analysis was conducted on 21 patients diagnosed with liver abscess caused by Streptococcus from June 2012 to June 2022.The data included demographic information,clinical characteristics,laboratory tests,imaging findings,treatment strategies,and outcomes.Results The 21 patients were 29 to 77 years of age,and 81.0％were male.Clinical manifestations included fever,chills,fatigue,and abdominal pain.Some patients also had headache and altered consciousness,indicating possible concomitant brain abscess.Hematogenous dissemination and biliary tract origin were the most common routes of infection.The predominant pathogen was Streptococcus anginosus group(76.2％).Single pathogen infection was found in 12 cases and mixed infection in 9 cases.All isolates were sensitive to penicillin,cefotaxime,vancomycin,and levofloxacin,but 36.4％(4/11)of the isolates showed resistance to erythromycin and clindamycin.Four patients developed metastatic abscesses,and two experienced septic shock.The main treatment approach was a combination of antibiotics and percutaneous liver puncture drainage,resulting in improvement in 18 patients.Conclusions Liver abscesses caused by Streptococcus are usually non-specific in terms of symptoms.Streptococcus anginosus group is the primary pathogen.Antibiotics combined with percutaneous drainage is an effective treatment approach.It is crucial for clinicians to be aware of potential brain abscesses and the necessity of early intervention.

OBJECTIVE To evaluate the current status of bacterial contamination control and prevention measures and construction of quality control laboratory in Chinese blood station,and find out the problems and put forward the improvement suggestions.METHODS A total of 41 questionnaires were sent out for performance comparison by secretariat of working group of Chinese blood collection and supply institutions from May 2024 to Jun.2024,and 40 questionnaires were received(14 blood centers and 26 central blood stations),39 of which were valid.The questionnaire survey covered four aspects,including disinfection and surveillance,construction of quality control laboratory,sterility test for blood component and monitoring of blood transfusion reactions.The data were pro-cessed through itemized statistics and descriptive analysis.RESULTS Totally 84.62％of the blood stations used io-dine-containing disinfectants for arm disinfection of the blood donors,and the monthly monitoring was the primary frequency.Among the quality control laboratories,43.59％were registered as biosafety level 2,while 35.90％lacked biosafety registration.As for the pressure settings of the laboratories,64.10％were under normal pres-sure,15.38％under negative pressure and 17.95％under positive pressure.In the sterility test,the utilization rate of ultra clean operating tables and biological safety cabinets was 48.72％,the blood stations that did not have the indoor quality control accounted for 79.49％,and only 35.90％participated the external quality assessment.Regarding the approaches to confirm the positive result,25.64％of the blood stations adopted the re-peated tests,and 15.38％adopted the combination with positive culture bottle.The shortage of fund was the ma-jor restricted factor for the sterility test,and the confirmation of positive result was the fundamental difficulty.The blood stations with the feedback of insufficient transfusion reactions reported from hospitals ac-counted for 53.85％,while the blood stations that encountered suspected bacterial transfusion reactions with nega-tive culture results accounted for 25.64％.CONCLUSIONS The infeciton control and prevention measures and the construction of quality control laboratory vary significantly in Chinese blood stations.The incomplete biosafety registration,non-standardized sterility test operation and weak surveillance of blood transfusion reactions are the major existing problems.It is suggested that the investment should be increased to push forward the standardi-zation and complete the laboratory biosafety system,and a hospital-blood station closed loop coordination mecha-nism should be established so as to raise the blood safety.

Objective:To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.Methods:A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080).Results:The pregnant woman (G 3) had a history of adverse pregnancy outcomes. During her first pregnancy (G 1), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G 2), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G 3), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46, X? , and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46, X? , rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46, X? [27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46, X? , inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1, (1~22)×2. The karyotype of the woman was 46, XX, inv(11)(p15q13), and that of her husband was 46, XY. A review of 12 similar cases (including G 1) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). Conclusion:Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.

Objective:To observe the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) at different frequencies on cognitive impairment due to high-altitude hypoxia.Methods:Sixty officers and soldiers displaying cognitive impairment in a hypoxic high-altitude environment were randomly divided into 15Hz, 20Hz and 25Hz groups, each of 20. They were given rTMS at those frequencies for 30 days. Before the stimulation and after 15 and 30 days, event-related potentials, latencies of mismatched negativity (MMN) and P300 signals were recorded. The participants′ cognition was also evaluated using the Montreal Cognitive Assessment Scale (MoCA). Correlation between the electrophysiological indexes and the MoCA scores was computed.Results:After 15 days, all had shorter MMN latencies, higher total MoCA scores and better memory scores. The only significant difference among the three groups was in the average memory scores. After 15 days, MMN latency was significantly negatively correlated with the memory scores in all three groups ( r=0.44 to -0.54). Conclusions:rTMS at frequencies above 15Hz can effectively relieve cognitive impairment, especially memory dysfunction, resulting from high-altitude hypoxia.