Post-traumatic mutism in children.

OBJECTIVE: To explore the pathological mechanism of post-traumatic mutism (PTM) in children. METHODS: A retrospective study of 16 children who suffered from severe head injury and developed PTM. RESULTS: Post-traumatic coma lasted from 2-72 days, average 15.5 days; while post-traumatic mutism lasted from 2-56 days, average 11.94 days. The correlation between duration of coma and mutism was significant (p < 0.001). SPECT found that multiple persistent ischaemic brain regions occurred in all patients; the mean number of regions was 5.6. The patients were sub-divided into three groups based on the number of ischaemic regions: group 1, < or = 4; group 2, 5 approximately 6; group 3, > or = 7. The duration of mutism did not differ significantly between groups 1 and 2, but the difference between group 3 and the other two groups combined was significant (p < 0.05). CONCLUSION: Most PTM occurred in patients with diffuse brain injury. The duration of mutism was related to the number of ischaemic brain regions and the duration of post-traumatic coma.

Effect of high-intensity interval training on executive function for healthy children and adolescents: a systematic review / 中国康复理论与实践

ObjectiveTo systematically review the effect of high-intensity interval training (HIIT) on executive function for healthy children and adolescents, and delineate the factors related to the intervention outcome. MethodsLiterature about the effect of HIIT on executive functions for healthy children and adolescent was retrieved from Web of Science, PubMed, Cochrane, Embase, Google Scholar, and CNKI, up to July 31st, 2023. The methodological quality was evaluated using the Physiotherapy Evidence Database (PEDro) scale, and relevant data were systematically reviewed. ResultsFifteen researches were included, from nine countries, comprising 13 randomized controlled trials with the scores of PEDro scale from five to eight, involving 17 021 participants aged six to 18 years. They were published mainly from 2016 to 2023. The primary factors related to the intervention outcome were the age of participants, HIIT intervention programs, and work-to-rest ratio. HIIT significantly improved working memory and inhibitory control in healthy children, while it was limited for adolescents. ConclusionHIIT can significantly improve inhibitory control and working memory in healthy children. Key factors related to the intervention outcomes include the age of participants and the specifics of the HIIT program, etc.

Clinical and genetic characteristics analysis of four cases of Phelan-McDermid syndrome caused by the novel mutations of the SHANK3 gene / 中华实用儿科临床杂志

The basic information and clinical data of 4 Phelan-McDermid syndrome (PMS) patients in the Pediatric Outpatient Department of the Peking University First Hospital from January 2014 to October 2019 were retrospectively analyzed.Genetic diagnoses were performed using the whole exon sequencing assay.The genotype-phenotype correlation analysis was then performed.All patients presented with intellectual disability/developmental delay, especially the most-common manifestation in language disability.Patient 2 had an autism behavior.Four novel variations of the SHANK3 gene were found in this study, including the c. 2861delC p. (S955Pfs*109), c.3166delC p. (A1039Afs*39), c.3711_3723delGCCCAGCCCCCGG p. (L1241Lfs*29) and c. 2223+ 1G>A.All of them were analyzed as new pathogenic variations according to the American College of Medical Genetics and Genomics criteria.The present study expan-ded the mutant spectrum of the SHANK3 gene, which provided a basis for further accurate genetic counseling and prenatal diagnosis of PMS.

Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome / 中华医学遗传学杂志

OBJECTIVE@#To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC).@*METHODS@#Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay.@*RESULTS@#Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome.@*CONCLUSION@#NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.

Clinical and genetic study of a child with 15q11.2 microduplication / 中华医学遗传学杂志

Objective@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*Methods@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*Results@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*Conclusion@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.

Molecular genetic analysis of a child with de novo 16p11.2 microdeletion / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit.@*METHODS@#Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection.@*RESULTS@#No karyotypic abnormality was found with the child and her parents. SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2, while her mother has carried a 444.4 kb microduplication at 15q13.3. Her father's result was negative. Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal. Prenatal diagnosis showed that the fetus has inherited the15q13.3 microduplication from its mother.@*CONCLUSION@#The child has carried a de novo 16p11.2 microdeletion, which overlaps with 16p11.2 microdeletion syndrome region, in addition with similar clinical phenotypes. The 16p11.2 microdeletion probably underlies her abnormal phenotype.

Clinical and genetic study of a child with 15q11.2 microduplication / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.

Assessment values of procalcitonin, lactic acid, and disease severity scores in patients with sepsis / 中华危重病急救医学

To investigate the assessment values of procalcitonin (PCT), lactic acid (LAC), sequential organ failure assessment (SOFA) score and acute physiology and chronic health evaluationⅡ (APACHEⅡ) score in patients with sepsis. Methods 140 patients with suspicious bacterial infection admitted to emergency department of Beijing Chaoyang Hospital of the Capital Medical University from August 2017 to June 2018 were enrolled. They were divided into three groups according to diagnostic criteria of Sepsis-3: non-sepsis group (n = 58), sepsis group (n = 66) and septic shock group (n = 16). The PCT, LAC, SOFA score, APACHEⅡscore, 28-day prognosis, and positive detection rate of PCT and LAC were compared among three groups. Independent predictors of 28-day mortality were analyzed by Logistic regression; predictive values of PCT, LAC, SOFA score and APACHEⅡscore for 28-day mortality in sepsis patients were analyzed by receiver operating characteristic (ROC) curve. Results PCT, LAC, SOFA score, APACHEⅡscore at admission, and 28-day mortality in sepsis group and septic shock group were significantly higher than those in non-sepsis group, and PCT, LAC, APACHEⅡ score, and 28-day mortality in sepsis shock group were further higher than those in sepsis group [PCT (μg/L): 38.1±12.6 vs. 4.6±2.3, LAC (mmol/L):3.3±2.1 vs. 2.4±2.1, APACHEⅡ score: 14.9±2.4 vs. 9.5±4.3, 28-day mortality: 75.0% vs. 24.2%, all P < 0.05]. The positive detection rate of PCT and LAC in sepsis group and septic shock group were higher than those in non-sepsis group (positive detection rate of PCT: 56.1%, 81.3% vs. 32.8%; positive detection rate of LAC: 42.4%, 62.5% vs. 13.7%; all P < 0.01). Logistic regression analysis showed that PCT, LAC, SOFA score and APACHEⅡ score were independent predictors of 28-day mortality [PCT: odds ratio (OR) = 0.933, 95% confidence interval (95%CI) = 0.878-0.991; LAC:OR = 0.539, 95%CI = 0.347-0.838; SOFA score: OR = 0.291, 95%CI = 0.514-0.741; APACHEⅡ score: OR = 0.808, 95%CI = 0.669-0.976; all P < 0.05]. ROC curve analysis showed that the area under ROC curve (AUC) of PCT, LAC, SOFA score and APACHEⅡ score predicting 28-day mortality was 0.76, 0.86, 0.81 and 0.87, respectively. The assessment values of APACHEⅡscore and LAC were higher than PCT in predicting 28-day mortality (Z1 = 2.56, Z2 = 2.45, both P < 0.01), and the performance of SOFA score was similar to PCT. Conclusions PCT, LAC, SOFA score and APACHEⅡscore were reliable indexes to evaluate disease severity for patients diagnosed with infection. The assessment values of APACHEⅡscore and LAC in 28-day mortality were superior to SOFA score and PCT.

Curative effect of middle and high flow intracranial -external vascular bypass on complex intracranial aneurysms and selection of grafts / 中华神经医学杂志

Objective To explore the efficacy of middle and high (mid-high) flow intracranial-external vascular bypass in treatment of complex intracranial aneurysms and selection of grafts. Methods The clinical data of 79 patients with complicated intracranial aneurysms treated by mid-high flow extracranial-intracranial bypass in our hospital from August 2010 to October 2017 were collected retrospectively. The grafts were radial artery (n=21), saphenous vein of the calf segment (n=29) or thigh saphenous vein segment (n=29). The efficacy was determined based on Glasgow outcome scale (GOS) scores at discharge and modified Rankin scale (mRS) scores at follow-up, and the differences of occlusion in different types of grafts were analyzed. Results CTA showed patency of the grafts in all patients one d after surgery. There were 6 patients having vascular occlusion: 2 patients (the grafts at saphenous vein of the calf segment ) were occluded 3 and 4 d after surgery, without symptom; 2 patients (the grafts at the radial artery), with decreased limb muscle strength, were occluded 5 and 25 d after procedure; 2 patients ( the grafts at the saphenous veins of the calf segment) were occluded 6 months after procedure without any symptom. There were 4 patients developed cerebral ischemia after operation: one had cerebral infarction and three had vasospasm. GOS scores at discharge and mRS scores at follow-up showed that 78 patients had improved symptoms and good prognosis; one patient showed no improvement in symptoms and plant survival. Conclusion Mid-high flow extracranial-intracranial bypass for treatment of complex intracranial aneurysms is effective; the graft should be individually selected based on preoperative assessment results.

Curative effect of surgery on moyamoya disease: an analysis of 47 patients / 中南大学学报(医学版)

Objective:To evaluate the effect of surgery on 47 patients with moyamoya disease by retrospective analysis.Methods:A total of 47 patients with moyamoya disease were enrolled from August,2010 to According to the improved treatment in August,2013,all cases were divided into two groups:a pre-improved group and a post-improved group.According to different surgical methods,they were divided into two subgroups:an indirect revascularization subgroup and a combined revascularization subgroup.Results:The cerebral ischemia in 77.4％ of patients was relieved after the surgery.There was significant difference in outcomes of patients between the pre-improved group and the post-improved group (P＜0.05),while there was no significant difference between the pre-improved indirect revascularization subgroup and the pre-improved combined revascularization subgroup.There was also no significant difference between the post-improved indirect revascularization subgroup and the post-improved combined revascularization subgroups (P＞0.05).Conclusion:Surgical treatment can improve the outcomes of patients with moyamoya disease,but there is no significant difference in surgical effects between indirect and combined revascularization.

Research Progress in Anti-tumor Mechanism of Traditional Chinese Medicine / 中国药师

Traditional Chinese medicine is the crystallization of civilization and wisdom of Chinese nation , in which the complex components exhibit unique advantages in anti-tumor therapy through multi-channel and multi-target.Through the summary of the litera-tures recently, the research on anti-tumor mechanism of traditional Chinese medicine was reviewed to provide reference for the deep re -search and clinical application of traditional Chinese medicine .

Microsurgical techniques for dorsal wall aneurysms in the internal carotid artery / 中南大学学报(医学版)

To seek a reasonable microsurgical technique for dorsal wall aneurysms in the internal carotid artery (ICA), and to evaluate its efficacy.
 Methods: A total of 21 patients with dorsal wall aneurysms in the ICA who received microsurgical techniques were retrospectively analyzed. The directive surgical clapping was applied for saccular aneurysm, while the techniques of stitching and wrapping, simple wrapping, and trapping with extracranial-intracranial bypass were used for cystic and blood blister false aneurysms.
 Results: One patient died after operation, 1 patient suffered rebleeding and gave up treatment, the remaining 19 patients achieved saticfactory outcomes.
 Conclusion: According to types of aneurysm wall, the different microsurgical treatments should be applied, and good outcomes can be achieved for patients with dorsal wall aneurysms in the ICA.

Construction of Ischemic Cardiomyopathy Model via Ligation of Left Anterior Descending Artery by using Diannan Miniporcine / 昆明医科大学学报

Objective To construct a large animal model of ischemic heart disease induced by acute myocardial infarction (AMI) . Methods Male Diannan Mini-pigs were selected (n=8), weight 20 ± 4 Kg. After general anesthesia and endotracheal intubation, blood pressure and electrocardiograph were monitored. Parasternal incision was taken and thoracotomyv was performed at 4th-to-5th intercostalgap. Pericardium was opened and left anterior descending artery was ligated. Echocardiography was performed at baseline, postoperative 28 and 60 day. Euthanasia and heart explanted was conducted at 60 day of experimental pig. After gross examination of the heart, the histological examination was used to assess myocardial infarction by using H&E staining. Results All of the pigs were presented with ventricular arrhythmias in varying degrees after ligation of the left anterior descending artery, of whom 2 died of refractory ventricular fibrillation, the mortality was 25%. Echocardiography assessment showed the loss left ventricular function, the thinning of left ventricular apical and the enlargement of left ventricule. Histological examination revealed that myocardial fibrosis and fibrous scar were formed in myocardial infarction area. Conclusion The ligation of left anterior descending artery through thoracotomy under direct vision is a reliable strategy for construction of AMI porcine model and the experimental porcine can develop ischemic cardiac dysfunction progressively.

Assessment of the significance of cysteine proteinase inhibitor C and β2 microgiobulin in the diagnosis and prognosis of sepsis-induced acute kidney injury / 中华全科医师杂志

ObjectiveTo assess the significance of serum cysteine proteinase inhibitor C (Cys-C) and β2 microglobulin (β2MG) concentrations in the diagnosis and prognosis of sepsis-induced acute kidney injury.Methods Two hundred and fifty patients presenting to the Emergency Department of Beijing Chaoyang Hospital from October 2008 to October 2009 with sepsis were assessed.Serum creatinine (SCr),β2MG and Cys-C concentrations and Acute Physiology and Chronic Health Evaluation Ⅱ ( APACHE Ⅱ ) scores were determined when the septic patients presented to the hospital. The 28-day mortality was recorded.The study patients were retrospectively divided into acute kidney injury ( n =63 ) and no acute kidney injury groups (n =187 ).The predictive accuracies of Cys-C and β2MG for acute kidney injury were analyzed by plotting a relative operating characteristic (ROC) curve.The Spearman interclass correlation method was used to analyze the correlation between Cys-C concentration and APACHE Ⅱ score in sepsisinduced acute kidney injury.ResultsCys-C and β2 MG concentrations were significantly greater in the acute than in the no acute kidney injury group [ ( 1189 ± 214) μg/L vs.(678 ± 118) μg/L,P =0.007 ; (3705 ±599)μg/L vs.(2365 ±446) μg/L,P =0.004,respectively].SCr concentrations and APACHE Ⅱ scores were significantly greater in the acute than in the no acute kidney injury group [ (145 ±49) vs.(73 ±25),P=0.013,(19 ±4) vs.(13 ±4),P=0.016].There was a significant correlation between Cys-C concentration and APACHEII score in the acute kidney injury group (P ＜0.01).The 28-day mortality was significantly greater in the acute than in the no acute kidney injury group.The areas under the ROC curve for Cys-C and β2MG concentrations were 0.909 ( OR =1.006,95％ CI =1.002 - 1.009) and 0.82 ( OR =1.001,95％ CI =1.000 -1.001),respectively.ConclusionsMonitoring of Cys-C and β2MG concentrations can effectively predict the occurrence of acute kidney injury in septic patients.Cys-C concentration is a more accurate predictor of this diagnosis than β2MG concentration.An increasing Cys-C concentration is an indicator of poor prognosis.

The positive detection rate of cystatin C in patients with sepsis and its prognostic significance / 中华急诊医学杂志

ObjectiveThe difference of Cys-C ( serum cysteine proteinase inhibitor C) among sepsis group,systemic inflammatory response syndrome (SIRS) group,and non -SIRS group were explored in this study.The significance of mortality and the relationship between Cys-C and acute physiology and chronic health evaluation (APACHE)Ⅱ score were under discussed. Methods After excluding the individual whose survival less than 24 hours,two hundred and fifty patients sought medical care in the emergency department of Beijing Chaoyang Hospital of the Capital Medical University were selected as samples from October 2008 to October 2009.They were classified into three groups:SIRS group ( n =121 ),non-SIRS group (n =74) and sepsis group ( n =55 ).The serum Cys-C level and APACHE Ⅱ score were determined for each patient.The positive detection rate of Cys-C ( ＞ 830 ng/ml) was calculated and then a 28-day mortality was recorded according to this study result.The positive detection rate and 28-day mortality were also compared with chi-square test.The prognostic values of Cys-C,APACHE Ⅱ score for the 28-daymortality were evaluated by logistic regression analysis.Results There was significant change observed between sepsis group and non-SIRS group (41.38％ vs. 13.57％,P =0.007 ) for the positive detection rate of Cys-C,as well as that between SIRS group and non-SIRS group ( 32.79％ vs. 13.57％,P =0.005).However,a contrary result was obtained when compared sepsis group with SIRS group (41.38％ vs.32.79％,P =0.346) ).Significant difference was noticed in the 28-day mortality of the patients from sepsis group and SIRS group in comparison to those of non-SIRS group (41.6％ vs. 17.2％,P ＜ 0.01 ;36.91％ vs. 17.2％,P ＜ 0.05).Cys-C level in patient with sepsis indicated a positive correlation to APACHE Ⅱ score ( P ＜0.0001 ).ConclusionsThe positive rate of Cys-C in SIRS group and septic group were significantly higher than that of non-SIRS patients,and this is an index for poor prognosis in sepsis patients.

Diagnosis and treatment of cystic meningioma / 中南大学学报(医学版)

OBJECTIVE@#To explore the pathogenetic mechanism of cystic meningioma and the key to its diagnosis and operation.@*METHODS@#Clinical data of 8 patients with cystic meningioma were analyzed retrospectively. The occuring position and cure rate of cystic meningioma were compared with those of solid meningioma in the corresponding period.@*RESULTS@#All patients were subjected to total resection of tumor parenchyma and cystic wall. No operative death and severe complications occurred. The incidence of uppertentorial region of cystic meningioma was higher than that of solid meningioma, and the difference was significant (χ(2)=2.618, P0.05).@*CONCLUSION@#Removing tumor totally is the key to preventing its recurrence.

mRNA expression of neuroglobin in thalamus of DAI rats / 中国医师杂志

Objective To study mRNA expression of neuroglobin (NGB) in thalamus of DAI rats and explore the relation between NGB and heed injury. Method 46 male SD rats were randomly divided into four groups. The DAI model was established according to modi-fied Mamamu method. The mRNA expression of NGB in thalamus at different time point after injury was detected by RT-PCR method. All data were analyzed with statistical software. Result The mRNA expression of NGB in thalamus increased obviously from 30 minutes after in-jury while decreased at the 24th hour after injury. But the expression increased again and reached peak at the 48th hour after injury. Conclu-sion The mRNA expression of NGB in thalamus increased after DM. Those changes suggested NGB might participate in the response mech-anism of stress, secondary ischemia and hypoxic brain injury after neuron injury.

Differential proteomic analysis of thalamus in rats with diffuse axonal injury / 中南大学学报(医学版)

OBJECTIVE@#To examine the differential expression of protein of thalamus in rats with diffuse axonal injury.@*METHODS@#Twenty-five rats were randomly divided into a normal group (n=10) and a trauma group (n=15). Total proteins of brain trauma tissue and normal brain tissue were extracted separately, and then proteins were separated by two dimensional gel electrophoresis and stained with Coomassie brilliant blue. The differentially expressed protein spots were identified with biospectrometry. Images were analyzed by PDQuest 7.0.@*RESULTS@#The distribution of protein spots in the trauma group was similar to that of the normal group, the matching rate was 95%, and the repeatability was good. Proteins were mainly displayed at pI 3-8, with relative molecular mass 14.4-75.0 kD. Compared with the normal group, 16 spots of proteins increased and 18 spots of proteins decreased in the trauma group.@*CONCLUSION@#There is some difference in protein expression between the normal group and the trauma group. Brain trauma may lead to changes of proteins in the thalamus.

Microsurgery techniques for insular glioma / 中南大学学报(医学版)

OBJECTIVE@#To explore the microsurgical techniques for insular glioma without damaging its surrounding normal structures.@*METHODS@#We retrospectively analyzed 54 patients with insular gliomas who underwent microsurgical operation by trans-syvian fissure approach between May, 2003 and August, 2008 in Xiangya Hospital. We discussed the techniques in the operation and summarized how to protect the key blood vessels, distinguish and protect the surrounding normal structures.@*RESULTS@#There were 36 complete removals,14 secondary complete removals, and 4 partial removals.Six patients had complications after the craniotomy who had temporal speech disorder (aphasia mostly began to recover about 10 days after the craniotomy),4 patients had opposite side paralysis worsening (3 recovered normally and 1 improved after 6 months),4 had light paralysis, and another 3 had paralysis and speech disorder.@*CONCLUSION@#The microsurgery by means of trans-syvian fissure approach can well expose the anatomical relation between tumor and its surrounding structures,so that we can remove the tumor and protect the surrounding normal tissues as much as we can.