OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a male with a normal phenotype and SRY gene-positive 46,XX/46,XY tetrazoospermia chimerism. METHODS: A male patient with an abnormal peripheral blood chromosomal karyotype detected at the Infertility Center of Taizhou Hospital of Zhejiang Province on December 2, 2013 was selected as the study subject. Peripheral venous blood samples were collected from the proband and his family members, together with a semen sample from the proband. Chromosomal karyotype analysis, red blood cell blood group identification, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), sex-determining region Y (SRY) gene detection, and short tandem repeat (STR) microsatellite marker analysis were performed on the peripheral venous blood sample from the proband. Routine semen analysis, sperm FISH, and STR testing were also conducted. STR verification was performed on both parents. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: k20201009). RESULTS: The proband, a 37-year-old male, had normal secondary sexual characteristics and external genitalia development. The chromosomal karyotype of his peripheral blood sample was 46,XX[94]/46,XY[6]. ABO blood group typing was positive for Rh(D) type O and negative for Rh(D) type A, indicating the presence of two red blood cell populations. CMA result was arr[GRCh37](1-22)×2,(XX)×1. Autosomal and X chromosome SNP genotypes were BB-BB, AB-AB, and AA-AA, making it impossible to identify homozygous/heterozygous chimerism. FISH detection of interphase nuclei showed nuc ish XX[92]/XY[8]. Testing of the SRY gene was positive. STR analysis showed a single X peak (no Y peak) at the AMEL locus, 10/12 at the Penta D locus, and no third allele at other loci. Routine semen analysis were normal. Sperm FISH detection showed haploid nuclei nuc ish X[53]/Y[47]. Sperm STR analysis revealed an X/Y bimodal distribution at the AMEL locus and a 9/14 distribution at the Penta D locus, with no third allele observed at other loci. Above results suggested that the proband's blood and germ cell lines had originated from a heterozygous chimera formed by the fusion of two different zygotes. CONCLUSION Combined genetic techniques confirmed that the proband's peripheral blood AMEL genotype is X/X, while the sperm is X/Y. The Penta D locus showed a bi-allelic heterozygous pattern of 10/12 in the peripheral blood sample and 9/14 in the sperm sample, suggesting that the proband is a tetrazygotic chimera resulted from the fusion of 46,XX/46,XY zygotes.
Humans ; Male ; Adult ; Chimerism ; Microsatellite Repeats ; Sex-Determining Region Y Protein/genetics* ; Phenotype ; Genes, sry ; In Situ Hybridization, Fluorescence ; Karyotyping

Objective: To investigate the environmental contamination of norovirus in nurseries and primary/secondary schools, so as to provide a scientific basis for effective prevention and control measures. Methods: A total of 483 external environmental samples were collected from 34 cluster outbreaks of norovirus gastroenteritis in kindergartens and primary/secondary schools in Linhai City from 2021 to 2024. Pathogen detection was conducted using a rapid nucleic acid extraction kit and realtime fluorescence RT-PCR, and the results were analyzed using the χ2 test or Fishers exact test. Results: Among the collected external environmental samples, the total positive rate of surface contamination was 13.66%. The positive rates in kindergartens and primary/secondary schools were 12.20% and 15.82%, respectively. In kindergartens, the five surfaces with the highest detection rates were desks/chairs (23.33%), toilet stool troughs (20.69%), urinal troughs (12.00%), washbasins/sinks (11.11%), and toilet mops (9.38%). In primary/secondary schools, the top five were toilet stool troughs (38.30%), urinal troughs (23.53%), toilet door handles (13.04%), toilet mops (12.50%), and drinking cups (11.11%). The difference in positive detection rates among different external environments in primary/secondary schools was statistically significant (Fishers exact probability test, P<0.01). The positive detection rate in sanitary toilets was higher than that in classroom environments (χ2=17.38), while the positive detection rate in classroom environments of kindergartens was higher than that in primary/secondary schools (χ2=5.42)(P<0.05). Conclusions Norovirus exhibits a high contamination rate in nurseries and schools, particularly in restroom areas. Strengthening sanitation and disinfection in highrisk environments, and improving hygiene awareness among children and staff, are essential for the effective prevent and control of norovirus.

BACKGROUND:Apoptosis and autophagy imbalance in the hippocampal region of perimenopausal depressed rats are closely related to cognitive decline.Whether aerobic exercise can reduce apoptosis by promoting hippocampal autophagy and thus improve the learning and memory abilities of perimenopausal depressed rats is not clear.OBJECTIVE:To investigate the possible mechanism by which 4-week moderate-intensity treadmill exercise improves learning memory ability in ovariectomized stressed rats.METHODS:Forty Sprague-Dawely rats were randomly divided into four groups,namely,sham operation group(n=10),ovariectomized group(n=10),ovariectomized stress group(n=10)and ovariectomized stress exercise group(n=10).Except for the sham operation group,the ovaries were removed in the other three groups to establish a perimenopausal rat model,and then a depressed rat model was established by chronic unpredictable stress in the latter two groups.The rats in the ovariectomized stress exercise group underwent a 4-week moderate-intensity treadmill exercise.Tail suspension test and sucrose preference test were performed to text depression-like behaviors in rats after exercise and stress.The eight-arm maze experiment was used to test the learning and memory behaviors of rats after exercise and stress.Western blot was used to detect the protein levels of AMP-activated protein kinase/UNC-51 like autophagy activating kinase 1/mammalian target of rapamycin(AMPK/mTOR/ULK1),hippocampus apoptotic factor Caspase-3 and the protein expression of autophagy markers LC-3II/Beclin-1 in the hippocampus.RESULTS AND CONCLUSION:(1)Compared with the sham operation group,rats in the ovariectomized and ovariectomized stress groups had prolonged resting time in the tail suspension test and decreased sugar-water intake and sugar-water preference in the sucrose preference test.(2)Ovary removal reduced the learning memory capacity of rats,as evidenced behaviorally by a significant increase in the number of working memory errors,the number of reference memory errors,and the completion time,and an even more pronounced increase in the above measures in the ovariectomized stress group.(3)Compared with the ovariectomized group,there was a significant reduction in the number of working memory errors,the number of reference memory errors,and the completion time in the ovariectomized stress group.(4)Compared with the sham operation group,in the ovariectomized and ovariectomized stress groups,the expression of hippocampal apoptotic factor Caspase 3 protein was significantly elevated,the expression of autophagy-related factors proteins Beclin-1 and LC3II,as well as the protein expression of AMPK and ULK1,was decreased,whereas the expression of mTOR protein was elevated.Changes in the above indicators were more significant in the ovariectomized stress group.(5)Compared with the ovariectomized stress group,in the ovariectomized stress exercise group,the protein expression of Caspase 3 was significantly decreased,the protein expression of Beclin-1 and LC3II was significantly increased,the protein expression of AMPK and ULK1 was significantly increased,and the protein expression of mTOR was significantly reduced.To conclude,4-week moderate-intensity treadmill exercise may promote cellular autophagy and reduce apoptosis through the AMPK/mTOR/ULK1 autophagy signaling pathway,thereby enhancing the learning and memory capacity of rats with ovariectomized depression

BACKGROUND:Apoptosis and autophagy imbalance in the hippocampal region of perimenopausal depressed rats are closely related to cognitive decline.Whether aerobic exercise can reduce apoptosis by promoting hippocampal autophagy and thus improve the learning and memory abilities of perimenopausal depressed rats is not clear.OBJECTIVE:To investigate the possible mechanism by which 4-week moderate-intensity treadmill exercise improves learning memory ability in ovariectomized stressed rats.METHODS:Forty Sprague-Dawely rats were randomly divided into four groups,namely,sham operation group(n=10),ovariectomized group(n=10),ovariectomized stress group(n=10)and ovariectomized stress exercise group(n=10).Except for the sham operation group,the ovaries were removed in the other three groups to establish a perimenopausal rat model,and then a depressed rat model was established by chronic unpredictable stress in the latter two groups.The rats in the ovariectomized stress exercise group underwent a 4-week moderate-intensity treadmill exercise.Tail suspension test and sucrose preference test were performed to text depression-like behaviors in rats after exercise and stress.The eight-arm maze experiment was used to test the learning and memory behaviors of rats after exercise and stress.Western blot was used to detect the protein levels of AMP-activated protein kinase/UNC-51 like autophagy activating kinase 1/mammalian target of rapamycin(AMPK/mTOR/ULK1),hippocampus apoptotic factor Caspase-3 and the protein expression of autophagy markers LC-3II/Beclin-1 in the hippocampus.RESULTS AND CONCLUSION:(1)Compared with the sham operation group,rats in the ovariectomized and ovariectomized stress groups had prolonged resting time in the tail suspension test and decreased sugar-water intake and sugar-water preference in the sucrose preference test.(2)Ovary removal reduced the learning memory capacity of rats,as evidenced behaviorally by a significant increase in the number of working memory errors,the number of reference memory errors,and the completion time,and an even more pronounced increase in the above measures in the ovariectomized stress group.(3)Compared with the ovariectomized group,there was a significant reduction in the number of working memory errors,the number of reference memory errors,and the completion time in the ovariectomized stress group.(4)Compared with the sham operation group,in the ovariectomized and ovariectomized stress groups,the expression of hippocampal apoptotic factor Caspase 3 protein was significantly elevated,the expression of autophagy-related factors proteins Beclin-1 and LC3II,as well as the protein expression of AMPK and ULK1,was decreased,whereas the expression of mTOR protein was elevated.Changes in the above indicators were more significant in the ovariectomized stress group.(5)Compared with the ovariectomized stress group,in the ovariectomized stress exercise group,the protein expression of Caspase 3 was significantly decreased,the protein expression of Beclin-1 and LC3II was significantly increased,the protein expression of AMPK and ULK1 was significantly increased,and the protein expression of mTOR was significantly reduced.To conclude,4-week moderate-intensity treadmill exercise may promote cellular autophagy and reduce apoptosis through the AMPK/mTOR/ULK1 autophagy signaling pathway,thereby enhancing the learning and memory capacity of rats with ovariectomized depression

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.

BACKGROUND:The objective of this retrospective hospital-based study was to describe the epidemiological features of traumatic spinal cord injury(TSCI)in the intensive care unit(ICU)and assess the incidence and possible risk factors for venous thromboembolism(VTE)following TSCI. METHODS:We retrospectively reviewed the medical records of 370 patients with TSCI who were admitted between January 2018 and March 2023.The following parameters were collected:age,sex,body mass index,occupation,underlying diseases,smoking history,education level,etiology of injury,injury segments,American Spinal Injury Association(ASIA)Impairment Scale score,severity of injury,injury severity score(ISS),VTE risk score(Caprini score),treatment,VTE prophylaxis,ICU length of stay,length of hospital stay,concomitant injuries,and complications.Descriptive statistics were used to summarize the demographic and clinical characteristics of the study participants.Logistic regression analysis was used to determine the risk factors for VTE. RESULTS:The mean age of patients with TSCI was 55.5±13.4 years,with a male-to-female ratio of 6.5:1.The leading cause of TSCI was falls from height(46.5%),followed by traffic accidents(36.5%).The cervical spinal cord was the most affected segment,followed by the thoracolumbar region.Among all the patients,362(97.8%)had concomitant injuries.Complications were observed in 255 patients(68.9%)during hospitalization.The incidence rate of VTE was 25.1%.Logistic regression analysis revealed that age(OR=1.721,95%CI:1.207-2.454,P=0.003),mechanical ventilation(OR=3.427,95%CI:1.873-6.271,P<0.001),and non-use of chemical prophylaxis(OR=2.986,95%CI:1.749-5.099,P<0.001)were risk factors for VTE. CONCLUSION:Falls from height and traffic accidents were the main causes of TSCIs in the ICU,especially for male patients with cervical spinal cord injuries.VTE is a frequent complication in patients with TSCI in the ICU.Age,mechanical ventilation,and non-use of chemical prophylaxis were found to be independent risk factors for VTE following TSCI.