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In August 2021, three students with diarrhea from the same school visited a local hospital in the S district of Beijing. An epidemic investigation showed that there were more students with diarrhea in the same school and they had one meal together. Campylobacter jejuni was isolated from both patients with diarrhea and asymptomatic food handlers; however, the latter also carried Campylobacter coli. Phylogenomic analysis showed that there was a campylobacteriosis outbreak among the students, and the asymptomatic food handler may have been the source of the infection. Routine inspection and surveillance for Campylobacter is needed for the food producing staff, particularly those cooking in the cafeteria in schools or other public food services.
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Humanos , Infecções por Campylobacter/epidemiologia , Gastroenterite , Diarreia , Campylobacter , Surtos de DoençasRESUMO
OBJECTIVE@#To compare and analyze the early clinical effect of direct superior approach(DSA) and posterior lateral approach (PLA) in hemiarthroplasty for elderly patients with femoral neck fracture.@*METHODS@#The clinical data of 72 elderly patients with femoral neck fracture who underwent hemiarthroplasty from January 2020 to December 2021 were retrospectively analyzed. Among them, 36 patients were operated through minimally invasive DSA including 10 males and 26 females with an average age of (82.82±4.05) years old; the other 36 patients underwent traditional PLA including 14 males and 22 females with an average age of (82.79±3.21) years old. The perioperative related indexes and Harris scores during follow-up between two groups were compared.@*RESULTS@#Comparison of operation time between two groups, (79.41±17.39) min of DSA group was shorter than(98.45±26.58) min of PLA group;incision length (8.33±2.69) cm was shorter than (11.18±1.33) cm of PLA group;intraoperative blood loss (138.46±71.58) ml was less than (173.51±87.17) ml of PLA group, initial landing time (3.04±0.95) d was earlier than (4.52±1.10) d of PLA group, hospitalization time (8.70±1.89) d was shorter than (10.67±2.35) d of PLA group(P<0.05). There was no statistical difference in Harris score between two groups before operation(P>0.05), but Harris score in DSA group was higher than that of PLA group at 1 month after operation(P<0.05), but at 12 months after operation, the difference was not statistically significant between two groups(P>0.05).@*CONCLUSION@#Compared with PLA, DSA is superior in clinical indexes such as operation time, intraoperative blood loss, incision length, first landing time, length of hospitalization and Harris score in the first month after operation in hemi hip replacement, and has comparative advantages in promoting early postoperative rehabilitation of elderly patients with femoral neck.
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Masculino , Feminino , Humanos , Idoso , Idoso de 80 Anos ou mais , Perda Sanguínea Cirúrgica , Hemiartroplastia , Estudos Retrospectivos , Artroplastia de Quadril , Fraturas do Colo Femoral/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVE@#To observe the clinical characteristics of mild and common COVID-19 patients infected with the Omicron variant, and to analyze related factors affecting the time to negative conversion of viral nucleic acid detection.@*METHODS@#Clinical data of 1781 patients with coronavirus disease 2019 (COVID-19) admitted to a cabin hospital in Shanghai from April 12 to May 26, 2022, were retrospectively analyzed, including age, gender, height, weight, clinical symptoms, comorbid diseases, COVID-19 vaccination, treatment, and nucleic acid negative conversion time. Univariate and multivariate logistic regression analyses were used to analyze the influencing factors of nucleic acid negative conversion time.@*RESULTS@#Among the 1781 patients, 995 were male and 786 were female, with a median age of 39 (30, 52) years. There were 727 patients (40.8%) with overweight and obesity [body mass index (BMI) > 24 kg/cm 2) and 413 patients (23.2%) had comorbid diseases. 205 cases (11.5%) were not vaccinated while 1576 cases were vaccinated. There were 1233 cases (69.2%) with one or more symptoms. The main clinical symptoms were cough (60.3%), expectoration (50.4%) and fever (36.9%). 1444 cases (81.0%) were treated with Chinese medicine, 78 cases (4.4%) were treated with western medicine, 14 cases (0.8%) were treated with integrated Chinese and western medicine, and 245 cases (13.8%) did not receive any medical treatment. All patients improved and were discharged. The median nucleic acid negative conversion time was 10.3 (7.4, 12.4) d. Univariate and multivariate analysis showed that, age ≥ 60 years ( OR=1.537, 95% CI: 1.116 - 2.115, P<0.01), BMI > 24 kg/cm 2 ( OR=1.344, 95% CI: 1.106 - 1.634, P<0.01 ) and hypertension ( OR=1.518, 95% CI: 1.094 - 2.106, P<0.05) were independent risk factors for prolonged nucleic acid negative conversion. COVID-19 vaccination ( OR=0.548, 95% CI: 0.398 - 0.755, P<0.01) was a protective factor, that is, vaccination shortened the time for the nucleic acid test to become negative.@*CONCLUSIONS@#The symptoms of the Omicron variant infection were relatively mild and occult. Age ≥ 60 years old, comorbid hypertension, no vaccination and BMI > 24 kg/cm 2 are independent influencing factors for prolonged nucleic acid negative conversion.
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Humanos , Feminino , Masculino , Pessoa de Meia-Idade , SARS-CoV-2 , COVID-19/epidemiologia , Vacinas contra COVID-19 , Estudos Retrospectivos , China , Hipertensão/epidemiologia , Ácidos NucleicosRESUMO
Objective:To study the effect of chair inclination angles forward on sit-to-stand time and muscle activation of lower extremities in stroke patients with hemiplegia. Methods:From January to August, 2019, 15 stroke patients with hemiplegia finished five times sit-to-stand at seat slope 0°, 10° and 20° forward. The time, and surface electromyogram (sEMG) signals of rectus femoris, hamstrings, anterior tibialis and peroneus muscle were recorded. Results:The total EMG peak, root mean square and integrated electromyography (iEMG) of all the muscles decreased at seat slope 10° and 20° forward compared with those at 0° (F > 4.530, P < 0.05). The time decreased at seat slope 20° forward compared with that at 0° (P < 0.05). Conclusion:Seat inclination forward at some angles may improve the sit-to-stand performance in stroke patients with hemiplegia.
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Objective To evaluate the clinical effect of anterograde and reverse digital artery island flap in treatment of wound repairing for fingertip defects.Methods From January 2015 to December 2016,there were 35 patients with fingertip defects underwent surgical treat-ment in our hospital,including 14 cases underwent surgery with anterograde digital artery island flap(anterograde group)and 21 cases under-went surgery with reverse digital artery island flap(reverse group).The anterograde group used proper palmar digital artery and nerve as the pedicle of flap,then took forward the finger pulp flap to the injured site.The reverse flap from the dorsal of one side of finger was harvested for coverage of the distal phalanx.Results All the flaps of the 35 cases were survived.In the anterograde group,reflux obstacle of vein appeared in 1 case,and it was cured with scarification procedures.In the reverse group,there were 3 cases of vascular crisis.After dressing release and partial remove of the stitching,2 cases of them return to normal.The other 1 case suffered from flap edge necrosis,and then the wound healed after dressing change.The operation time of anterograde group was(107.5 ±18.4)min and it was(139.5 ±18.0)min in the reverse group, which showed significant difference between the two groups(P<0.05).All the 35 cases were followed up for 6 to 12 months,with an average of 8.5 months.At the last follow-up,it showed that patients in both of the two groups had ruddy color,good texture and no significant bloated flap appearance.In the anterograde group,the sensory function of 12 patients restored to S4 and 2 patients restored to S3.Meanwhile,in re-verse group,5 patients restored to S3,12 patients restored to S2, and 4 patients restored to S1.The two-points discrimination of the antero-grade group was(4.22 ±0.67)mm,and it was(7.04 ±1.25)mm in the reverse group,which was significantly different(P<0.05).The in-terphalangeal joint motion was(102.67 ±7.35)°at the distal end and(64.46 ±8.37)°at the proximal end in anterograde group.And it was (100.64 ±10.29)°and(60.81 ±10.80)°respectively in the reverse group,with no significant difference between the two groups (P>0.05).The excellent and good rate was 92.8%in the anterograde group and 80.9%in the reverse group by the criteria for functional evaluation,and there was no statistically significant difference(P>0.05).Conclusion For fingertip defects(IshikawaⅠ~Ⅲ)treated by anterograde digital artery island flap or reverse digital artery island flap both can obtained good clinical efficacy.But it has shorter operation time and better sensory recovery with anterograde digital artery island flap repairing.
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AIM: To analyze the value of 24 - hour intraocular pressure ( IOP) monitoring in suspected glaucoma patients. METHODS: Totally 48 suspected glaucoma (96 eyes) were selected for 24 - hour IOP monitoring by using Accupen tonometer (24 - 3000) and non - contact tonometer (NCT, CT-80A) from 9 30 to 7 30 next day (once in 2h). During 07 30 to 21 30, patients were measured in sitting position,while during 23 30 to 05 30 in both sitting and supine position. RESULTS:A morning peak of IOP was shown at 7 30 in traditional position by using two measures with 22.05士3 608mmHg of NCT and 19.79士4.147mmHg of Accupen tonometer. The peak IOP in habitual position appeared in 5 30 with 21.64士4.814mmHg. The lowest IOP occurred in both position at 21 30 with 15. 73士3. 649mmHg. Both positions showed IOP trend of going up at night and then declining in the morning. CONCLUSION: The peak IOP in suspected glaucoma occurs mostly at early morning. Supine IOP of sleeping time is higher than that of sitting position.
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<p><b>OBJECTIVE</b>To investigate the influential factors of total blood loss during unilateral artificial total hip arthroplasty (THA).</p><p><b>METHODS</b>From January 2014 to July 2016, 131 patients undergwent primary unilateral total hip arthroplasty, including 55 males and 76 females, ranging in age from 40 to 89 years old, with an average of 64.5 years old. The data of patients with unilateral total hip arthroplasty were collected, and the data of hemodynamics, coagulation function, hemoglobin and hematocrit values were recorded according to the observation data. The blood loss of the patients was calculated by Gross equation, and the data were analyzed by a statistical software.</p><p><b>RESULTS</b>The total blood loss of the patients was significantly affected by the factors of pathogenesis and deep venous thrombosis of the lower limbs. The results were statistically significant(<0.05). The gender, age, body mass index, prosthesis and anesthesia had little effects on the blood loss volume after replacement.</p><p><b>CONCLUSIONS</b>The data in this study indicate that the volume of actual blood loss can be controlled by adjusting non-surgical factors such as gender, age, body mass index, prosthetic material, and risk factors, and surgical factors(postoperative complications, anesthesia).</p>
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Objective To investigate the correlation between the gene polymorphism of homocysteine metabolic enzyme cystathionine β-synthase(CBS) 844ins68,N5,10-methylenetetrahydrofolate reductase(MTHFR) C677T and chronic pulmonary heart disease(CPHD).Methods A total of 230 patients with CPHD in observation group were selected from January 2014 to November 2016 in the Second People's Hospital of Xinxiang City,and 235 healthy subjects in healthy control group were selected at the same time.The lung function test was performed with lung function instrument,and the percentage of the forced expiratory volume in one second to predicted value(FEV1% pred) and the forced expiratory volume in one second to forced vital capacity(FEV1%) value were recorded in the two groups.The fasting ulnar venous blood was collected from the patients in the observation group on the next morning after hospitalization and the subjects in the control group on the morning of health examination.The levels of plasma homocysteine (Hcy),fasting blood glucose (FBG),triacylglycerol (TG),total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) were detected.The DNA was extracted from the whole blood cells.The CBS 844ins68 polymorphism was detected by polymerase chain reaction genotyping.The MTHFR C677T polymorphism was detected by restriction fragment length polymorphism polynerase chain reaction.Results There was no significant difference in the FBG level between the two groups (P > 0.05).The levels of Hcy,TG,TC and LDL-C in the observation group were significantly higher than those in the healthy control group (P < 0.05),and the FEV1 and FEV1% pred were significantly lower than those in the healthy control group (P < 0.05).There were two genotypes of CBS 844ins68 in the two groups.The genotype frequencie of DD and DI in the observation group was 91.74% and 8.26%,and the allele frequency of D and I was 95.87% and 4.13% respectively.The genotype frequency of DD and DI in the healthy control group was 94.04% and 5.96%,and the allele frequency of D and I was 97.02% and 2.98% respectively.There was no significant difference in genotype and allele frequency distribution between the two groups (x2 =0.935,0.901;P > 0.05).Three genotypes of MTHFRC677T were detected after enzyme digestion in the two groups.The genotype frequency of CC,CT and TT in the healthy control group was 27.66%,48.94% and 23.40%;and the allele frequency of C and T was 52.13% and 47.87% respectively.The frequency of TT genotype and T allele in the observation group was significantly higher than that in the healthy control group (x2 =7.730,7.326;P < 0.05).Conclusions Hcy level increasing may be a risk factor for CPHD.The polymorphisms of CBS 844ins68 gene may be unrelated to the occurrence of CPHD.The polymorphism of the MTHFR C677T gene may contribute to CPHD by affecting Hcy level.The T allele of MTHFR C677T may be a risk factor for CPHD,and the MTHFRC677T gene may be a genetic predisposition to CPHD.
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OBJECTIVE@#To discuss the effect of Yaobitong capsule on histomorphology of dorsal root ganglion and on expression of p38MARK phosphorylation in autologous nucleus pulposus transplantation model of rats.@*METHODS@#A total of 60 SD rats were randomly divided into the blank group, model group and Yaobitong capsule group, with 20 rats in each group. The animal model of autologous nucleus pulposus transplantation around the lumbar nerve root was built. Three days after the modeling, rats were given the drugs for the first time, while rats in the model group were given the equivalent normal saline. After 30 d of continuous administration, samples were collected from rats. HE staining was performed on the dorsal root ganglion of L4 and L5 spinal cord of rats in each group and the expression of p38MARK phosphorylation was measured. All data were treated with the statistical analysis.@*RESULTS@#The histological examination showed that the histomorphology of dorsal root ganglion in the Yaobitong capsule group was more significantly improved than the one in the model group, while the results of western blot showed that Yaobitong capsule could significantly inhibit the level of p38MAPK phosphorylation of dorsal root ganglion cells.@*CONCLUSIONS@#Yaobitong capsule can improve the symptoms and nerve radiculopathy of autologous nucleus pulposus transplantation of rats and its mechanism may be associated with its inhibiting effect on the level of p38MAPK phosphorylation.
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Objective: To discuss the effect of Yaobitong capsule on histomorphology of dorsal root ganglion and on expression of p38MARK phosphorylation in autologous nucleus pulposus transplantation model of rats. Methods: A total of 60 SD rats were randomly divided into the blank group, model group and Yaobitong capsule group, with 20 rats in each group. The animal model of autologous nucleus pulposus transplantation around the lumbar nerve root was built. Three days after the modeling, rats were given the drugs for the first time, while rats in the model group were given the equivalent normal saline. After 30 d of continuous administration, samples were collected from rats. HE staining was performed on the dorsal root ganglion of L4 and L5 spinal cord of rats in each group and the expression of p38MARK phosphorylation was measured. All data were treated with the statistical analysis. Results: The histological examination showed that the histomorphology of dorsal root ganglion in the Yaobitong capsule group was more significantly improved than the one in the model group, while the results of western blot showed that Yaobitong capsule could significantly inhibit the level of p38MAPK phosphorylation of dorsal root ganglion cells. Conclusions: Yaobitong capsule can improve the symptoms and nerve radiculopathy of autologous nucleus pulposus transplantation of rats and its mechanism may be associated with its inhibiting effect on the level of p38MAPK phosphorylation.
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<p><b>OBJECTIVE</b>To compare the clinical outcomes of intrasacrospinal muscular approach and posterior midline approach in treating far lateral lumbar disc herniation.</p><p><b>METHODS</b>The clinical data of 32 patients with far lateral lumbar disc herniation underwent transforaminal lumbar interbody fusion from January 2004 to January 2011 were retrospectively analyzed. The patients were divided into intrasacrospinal muscular approach group (11 males and 6 females ) and posterior midline approach group (10 males and 5 females). All patients were followed up from 12 to 18 months with an average of 15.3 months. Operative time, blood loss, postoperative draining volume were recorded and pre-and post-operative visual analog scale (VAS) and Oswestry Disability Index (ODI) were compared between two groups.</p><p><b>RESULTS</b>Operative time, blood loss, postoperative draining volume in intrasacrospinal muscular approach group was less than that of posterior midline approach group (P < 0.05). There was no significant difference in VAS at final follow-up between two groups (P > 0.05); and the mean ODI in intrasacrospinal muscular approach group was less than that of posterior midline approach group (P < 0.05).</p><p><b>CONCLUSION</b>For the treatment of far lateral lumbar disc herniation, intrasacrospinal muscular approach has less injury for paraspinal muscle and more satisfactory clinical outcome and is better method than posterior midline approach.</p>
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Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , Deslocamento do Disco Intervertebral , Cirurgia Geral , Vértebras Lombares , Cirurgia Geral , Imageamento por Ressonância Magnética , Fusão Vertebral , Métodos , Tomografia Computadorizada por Raios XRESUMO
<p><b>OBJECTIVE</b>To analyze the measles immunity level of persistent population in Beijing.</p><p><b>METHODS</b>A total of 2125 objects from 10 age groups, who had been living in Beijing for over 6 months, were selected from urban and rural areas in Beijing in 2012. Demographic characteristics, history of measles and vaccine immunization were investigated by questionnaire. 5 ml blood sample of each subject was collected, and the Measles IgG antibody was measured by ELISA assay.</p><p><b>RESULTS</b>Positive rate of measles antibody was 84.71% (1800/2125) and standardized positive rate was 88.07% . Median of antibody was 960.46 IU/L. Positive rate and median of measles antibody were significantly different between population from different age groups (χ(2) = 341.60, P < 0.01; H = 216.27, P < 0.01). Antibody positive rate and median were lowest in the <1 year age group, which were separately 43.06% (90/209) and 185.80 IU/L; and highest in the 1-4 (97.31% (181/186) and 2448.81 IU/L) and 5-9 years age group (96.46% (218/226) and 1910.72 IU/L). The range of antibody positive rate and median in adults of ≥ 15 years were 81.98%-90.14% and 744.38-1474.84 IU/L. Antibody positive rate and median in persistent population, which were separately 82.45% (883/1071) and 899.82 IU/L, were lower than those in migrant population, which were 87.00% (917/1054) and 166.19 IU/L, respectively (χ(2) = 8.51, P < 0.01;U = 538 704.00, P < 0.01). Antibody positive rate and median in population with vaccination history, which were separately 91.95% (891/969) and 1443.11 IU/L, were higher than those population without vaccination history and people whose history unknown (32.95% (57/173) , 127.33 IU/L; 86.67% (852/983) , 923.73 IU/L). The difference showed statistical significance (χ(2) = 399.92, P < 0.01; H = 202.11, P < 0.01).</p><p><b>CONCLUSION</b>Among the persistent population in China, measles antibody level among the children aging 1-9 years old was high enough to prevent outbreak and epidemic of measles. However, we should try our best to strengthen the measles antibody level among the babies younger than 1 year old and the migrant population aging between 15 and 40 years old.</p>
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Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Adulto Jovem , Anticorpos Antivirais , Sangue , China , Epidemiologia , Sarampo , Epidemiologia , Alergia e Imunologia , Vírus do SarampoRESUMO
<p><b>OBJECTIVE</b>To investigate the treatment of comminuted superior tibial fracture in complex injury according to damage control orthopaedic.</p><p><b>METHODS</b>From Jan. 2007 to Jun. 2009,11 patients suffered from comminuted superior tibial fracture with complex injury, including 8 males and 3 females with an average age of 35.2 years. The external fixator were used to fix tibial fracture in emergency treatment, after 6 weeks when the condition of patients were improved, fix the external tibia by LISS plate through litter incision, fix interior tibia by reconstructed plate or sustained plate. The effect evaluated by Lysholm standard, marking system on the basis of limp, walking stick, angina, knee unsteady, pain, swell, up and down floor, squat.</p><p><b>RESULTS</b>All the postoperative CR showed that the superior tibial fractures were acquired functional reduction, the incision got well and no infection occurred. All 11 patients were followed-up for 12 to 18 months with an average of 14.7 months. According to an evaluation standard of Lysholm, the results were excellent in 5 cases, good in 4 cases, fair in 1 case, poor in 1 case.</p><p><b>CONCLUSION</b>According to damage control orthopaedic, the treatment of comminuted superior tibial fracture by external fixation and LISS plate is a suitable method for the patient with complex injury who undergo comminuted superior tibial fracture.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fraturas Cominutivas , Diagnóstico por Imagem , Cirurgia Geral , Procedimentos Ortopédicos , Métodos , Fraturas da Tíbia , Diagnóstico por Imagem , Cirurgia Geral , Tomografia Computadorizada por Raios XRESUMO
<p><b>OBJECTIVE</b>To explore therapeutic effects of emergency medial malleolus osteotomy for the treatment of fractures of talar neck and dislocation of talar body.</p><p><b>METHODS</b>From 1995. 6 to 2007. 10, among 24 patients with fractures of talar neck and dislocation of talar body, 18 patients were male and 6 patients were female, ranging in age from 28 to 58 years (mean 35.4 years). The duration from injury to the emergency ward ranged from 0.5 to 12 h. All the patients were treated in 5 hours after hospitalization with emergency medial malleolus osteotomy and internal fixation. Firstly, osteotomy was made above the medial malleolus tip; Secondly, the medial malleolus was turned over downward to uncover the talus; Then, the fracture of talus can be reduced in direct visidn.</p><p><b>RESULTS</b>All the patients were followed up ranged from 6 to 60 months. According to Kenwright evaluation standards, 18 patients obtained an excellent results, 4 good and 2 fair.</p><p><b>CONCLUSION</b>It is easy and clearly to perform medial malleolus osteotomy. The blood circulation of talus is preserved. So it is an effective method to treat the fractures of talar neck and dislocation of talar body.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Parafusos Ósseos , Fixação Interna de Fraturas , Fraturas Ósseas , Cirurgia Geral , Osteotomia , Métodos , Tálus , Ferimentos e Lesões , Cirurgia Geral , Resultado do TratamentoRESUMO
<p><b>OBJECTIVE</b>To observe the therapeutic effect of acupoint sticking therapy for treatment of stroke.</p><p><b>METHODS</b>Two hundred and forty-six cases were randomly divided into a non-acupoint sticking group (control group, n=122) and an acupoint sticking group (n=124). The control group was treated with routine ward treatment of stroke (acupuncture combined with routine western medicine). The acupoint sticking group was treated with basis ward treatment of stroke (similar to the control group), and acupoint sticking therapy was applicated on Shenque (CV 8). The scores of Stroke-Specific Quality of Life (SS-QOL) and WHOQOL-100BREF were adopted to evaluate the therapeutic effects and the cysteine of patients were tested before and after treatment.</p><p><b>RESULTS</b>There were significant differences in scores comparison of SS-QOL and WHOQOL-100BREF before and after treatment in both groups (both P < 0.001); there was no significant difference after treatment between two groups (P > 0.05); there was a significant difference in thinking items of SS-QOL after treatment between two groups (P < 0.05), the acupoint sticking group was superior to that of control group; SS-QOL score of patients with abnormal cysteine of acupoint sticking group was superior to that of the control group after treatment, with a significant difference between the two groups (P < 0.05).</p><p><b>CONCLUSION</b>The acupoint sticking therapy can improve the thinking ability of stroke patients, and improve the life quality of high cysteine stroke patients.</p>
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Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pontos de Acupuntura , Terapia por Acupuntura , Acidente Vascular Cerebral , Psicologia , Terapêutica , PensamentoRESUMO
<p><b>OBJECTIVE</b>To observe the disease-causing GLA gene mutations in Chinese patients with Fabry disease and the correlation between the genotype and phenotype.</p><p><b>METHODS</b>DNA from 2 Chinese patients with Fabry disease and their relatives were collected. The seven exons and nonjunctional regions of GLA gene were amplified with polymerase chain reaction and the products were sequenced. The correlation between the genotype and phenotype was analyzed.</p><p><b>RESULTS</b>Two mutations, G1168A and G1170A, located in 5' untranslated regions (5'UTR) were identified in the two probands and the two mutations were absent in normal controls. Three patients with the same genotype were found in the pedigree with G1168A mutation and there was no gene mutation carrier in the pedigree with G1170A mutation. Symptoms of the disease are less in female patients than that in male patients.</p><p><b>CONCLUSION</b>GLA gene mutation in 5'UTR may also be involved in the disease process of patients with Fabry disease and the phenotype is partly affected by gender.</p>