Objective To explore the clinical characteristics of Kennedy's disease （KD）. Methods We reported three cases of KD confirmed by genetic testing admitted to the Department of Neurology of The First Affiliated Hospital of Henan University of Science and Technology. Based on their clinical manifestations， physical examination results， and auxiliary examination data as well as previous literature， we analyzed and summarized the clinical features of KD. Results The three male KD patients were aged 43-46 years. They mainly manifested with progressive slurred speech， limb weakness， tongue muscle atrophy with tremor， and breast development. Creatine kinase levels were increased and sex hormone levels were abnormal in all the patients. Electromyography showed extensive neurogenic damage with involvement of both motor and sensory nerves. Genetic testing detected over 40 CAG repeats in the androgen receptor gene in all the cases. Conclusion KD is a late-onset inherited motor neuron disease， which can involve multiple systems to cause various clinical manifestations. Genetic testing is needed for a definite diagnosis.

Objective:To evaluate the effectiveness of exogenous melatonin in preventing delirium in critically ill patients.Methods:The computer searched Pubmed, Medline, Embase, Web of Science, the Cochrane Library and other English databases for randomized controlled trials on the efficacy of exogenous melatonin in the prevention of delirium in critically ill patients. The retrieval time was from the establishment of the database to March 2021. Two researchers independently screened the literature, extracted data and evaluated the quality according to the inclusion and exclusion criteria. Revman 5.3 software was used for meta-analysis.Results:A total of 10 randomized controlled trials and 1 224 critically ill patients were included. The results of meta-analysis showed that there were no significant differences in the incidence of delirium during hospitalization (relative risk [ RR] 0.72, 95% confidence interval [ CI] 0.47-1.09; Z=1.57, P=0.12), ICU hospitalization time (mean difference [ MD] -0.36, 95% CI -1.01-0.28; Z=1.11, P=0.27), mechanical ventilation time ( MD -49.42, 95% CI -126.63-27.80; Z=1.25, P=0.21) and mortality ( RR 0.74, 95% CI 0.42-1.30; Z=1.05, P=0.29) between the experimental group and the control group. Conclusion:Exogenous melatonin can not prevent the occurrence of delirium in critically ill patients, nor can it shorten the hospitalization time and mechanical ventilation time in intensive care unit and reduce the mortality.

Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.

Objective To explore the clinicopathologic factors impacting recurrence and survival in rectal cancer patients after radical resection.Methods Clinicopathologic data of 1 166 patients with rectal cancer in Changhai Hospital,were recruited between 2005 and 2010.Kaplan-Meier analysis and the logrank test were used to evaluate the effects of the pathology on patients' survival.Cox regression model was used to assess independent factors associated with clinical prognosis.Results The 1,3,5-year overall survival rates were 94.3％,81.2％ and 76.5％,median survival time was 53 months.328 patients had recurrence and metastases,with a median recurrence time of 18 months.The independent prognostic factors for overall survival time were CEA,CA19-9,tumor distance to dentate line,surgical modality,radical operation,tumor invasion,tumor differentiation,lymph node metastasis and postoperative treatment.Surgical treatment,radical operation or not,tumor invasion and lymph node metastasis were statistically significant associated with tumor recurrence and metastases.Conclusions The important factors inffuencing the prognosis of rectal cancer patients were CEA,CA19-9,tumor distance to dentate line,surgical modality,radial operation,tumor in vasion,tumor differentiation,lymph node metastasis,and post operative treatment.

ObjectiveTo report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010.MethodsAs the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province,Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.ResultsFrom January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698％ (from 1998 to 2003) and 27.667％ (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237％,7 393/141 166) and 3333 for β-thalassemia (2.361％,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7％,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9％ (49/149).ConclusionsThis study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary comes out of technical proposals for prenatal screening and diagnosis,which could be take example by preventative control of thalassemia in other regions of China where are prevalent.

Objective To study the effect of transcranial ultrasound (US) on arterial recanalization in acute ischemic stroke patients.Methods Patients with acute middle cerebral artery (MCA) main stem occlusion after 6 h were randomized into a target group receiving low-frequency,pulse-wave mode,transcranial US for 30 min or a control group.All were treated with intravenous urokinase for thrombolysis.Transcranial doppler sonography (TCD) was used to document vascular occlusion and confirm recanalization at 2 h and 24 h after treatment,and the patients were evaluated using the National Institutes of Health Stroke Scale ( NIHSS).Results Recanilization (complete or partial) after 2 hours was significantly higher in the US group (44.4％) compared with the control group ( 10.5％ ).Recanalization had occurred in 50％ of the US group 24 hours after treatment compared with 15.7％ of the controls.At 2 h after treatment,33.3％ of the US group and 5.5％ of the controls had improved at least 4 points on the NIHSS assessment.After 24 hours the figures were 44.4％ and 10.5％.After 3 months,11 subjects from US group (61.1％ ) had a modified Rankin score ≤2 compared with 4 subjects (21％) from the control group.Conclusions In acute ischemic stroke,transcranial US has positive effects on recanalization and neural function.

Objective To explore the ultrasound characteristics of carotid atherosclerosis in acute stroke patients with early neurological deterioration (END). Methods END was defined as a increase by at least two points in the National Institutes of Health Stroke Scale between admission and day 7. Among 128 patients with acute stroke in whom carotid ultrasound examinations were performed within 24 hours after admission, 38 patients with END and 40risk-matched patients without END were included in the END group and the non-END group,respectively. The ultrasound characteristics of carotid atherosclerosis were compared in both groups. Results Plaque score (16.7 ±4.4 mm vs. 13.3 ±3.5 mm, t=2.673, P=0.009),intima-media cross-sectional area (26. 4 ± 8. 5 mm2 vs. 20. 5 ± 6. 8 mm2, t = 3. 394, P =0. 001), arterial stiffness index (28. 94 ±4. 29 vs. 21. 22 ±5. 85, t = 6. 618, P =0. 000), and the rates of unstable plaque (66. 7% υs. 43. 3%, χ2=9. 164, P =0. 003), eccentric plaque (62. 8% vs. 45. 6%, χ2=5. 008, P =0. 025), stenosis ≥50% (71. 1% vs. 37. 5%, χ2=8. 828, P =0. 003), and negative remodeling (28. 9% vs. 7. 5%, χ2=6.087, P =0.014) in the END group were significantly higher than those in the non-END group, while the distensibility coefficient ([14. 74 ±8. 66]×10-6/P υs. [19. 16 ±9.35] × 10-6/Pa, t =2. 163, P=0. 034)and compliance coefficient ([0.49 ±0. 13] × 10-4 mm2/Pa υs. [0. 58 ±0. 11] × 10-4 mm2/Pa,t =3.307, P =0. 001) were significantly lower than those in the non-END group. Conclusions The ultrasound characteristics such as plaque score, intima-media cross-sectional area, arterial stiffness index, unstable plaque, eccentric plaque, stenosis ≥ 50%, negative remodeling,distensibility and compliance may be useful to predict END in patients with acute stroke.

The in vivo techniques for studying human body composition have built up an important field and are continuing to be developed. This review provides an overview of the present status of this field and describes the in vivo techniques used in mearsuring human body composition such as anthropometry, metabolites method, densitometry, dilution method, total body potassium, neutron activation analysis, bioelectrical impedance analysis, dual energy X ray absorptiometry and imaging method. The review also introduces the principle, method and value of these techniques.
Anthropometry ; methods ; Body Composition ; Densitometry ; methods ; Humans ; Magnetic Resonance Spectroscopy ; methods ; Plethysmography, Impedance ; methods ; Whole Body Imaging ; methods

Objective: To summarize surgery experience and efficiency of laparoscopic excision of choledochal cyst and reconstruction of biliary tract and to analyze the treatments administered during intra and post-operation of the biliary reconstruction. Methods: We enrolled 48 cases of video-guided laparoscopic intraoperative cholangiography, cholecystectomy, choledochocele resection, Roux-en-Y hepaticojejunostomy with an anti-reflux valve from August, 2001 to October, 2003.Their operative procedures and aims were retrospectively analyzed. Results: Forty-four out of 48 patients successfully underwent laparoscopy and recovered soon. Only 4 cases were transformed to open operation. The post-operation complications were found in 4 cases. Conclusion: Video-guided laparoscopic excision of choledochal cyst, biliary tract reconstruction and Roux-en-Y hepaticojejunostomy are an effective method of treatment with advantages of minimal injury, less bleeding, and sooner recovery.

Objective To explore the effect of the complex containing neuron stem cells(NSCs)and endothelial progenitor cells(EPCs)after being transplanted to ischemia and reperfusion rat model on the differentiation of neural stem cells to neuron and synapse formation.MethodsTotally 300 SD adult male rats were randomly divided into sham operation group,middle cerebral artery occlusion(MACO)model group,MACO+NSCs group,MACO+EPCs group,and MACO+complex group,and every group were further divided into 6 subgroups according to time points 1,3,7,14,30 and 60 d after operation,NSCs were isolated from the hippocampus of neonatal SD rats born in 24 h and identified with Nestin staining.EPCs were obtained from the artery blood of SD rats and verified with immunocytochemical stainings of CD31 and CD34 after culture.NSCs and EPCs were cultured together to produce the complex with aid of laminin.Then normal saline,the NSCs,EPCs,or complex(2?1010/L)were transplanted into the ischemia penumbra of corresponding model rat brain,sham control or MACO rats.The differentiation of NSCs,the expression of P38,synapsin-I,mRNA of connexin 43 were observed with double label immunofluorescence technique,immunohistochemical method,RT-PCR and Western blot analysis in ischemic penumbra.ResultsCompared with other groups,there were more double Brdu and neural special enolase positive cells in MACO+complex group with the increased expression of P38.RT-PCR and Western blot analysis indicated that MACO+complex group had significantly higher expressions of synapsin-I at mRNA and protein levels in ischemic penumbra,and so did the mRNA expression of connexin 43.ConclusionThe transplantation of the complex of NSCs and EPCs improves the NSCs differentiation to neuron,synapse formation and reconstruction of neural network.