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Objective:To study the risk of refracture after osteoporotic vertebral fracture with changes in blood calcium and bone metabolism.Methods:260 patients with osteoporotic vertebral fracture treated in our hospital from Feb. 2018 to Feb. 2020 were selected for study. All patients were treated with kyphoplasty. The clinical curative effect, blood calcium, PINP, and β-CTX level changes were observed, postoperative recurrence was followed up. Clinical data of fracture patients were collected, risk factors of osteoporotic vertebral fractures in patients with postoperative recurrence of fracture were analyzed, receiver-operating characteristic curve was drawn to analyze the predictive value of blood calcium, PINP, andβ-CTX in postoperative recurrence of osteoporotic vertebral fracture.Results:The total clinical response rate was 95.77% (249/260) after treatment. After treatment, serum calcium, PINP, and β-CTX decreased with time, and the difference was significant ( P<0.05) . All patients were followed up for 6 months. There were 81 cases (31.15%) suffering postoperative fracture and 179 cases (68.85%) without fracture. According to univariate analysis, there were no statistically significant differences in age, sex, BMI, history of trauma, underlying disease, site of surgical vertebral body, segment of surgical vertebral body, correction angle of sagittal kyphosis, or amount of bone cement injection between the two groups ( P>0.05) . Long-term history of glucocorticoid use, preoperative fractured vertebra number, surgical vertebra number, blood calcium, PINP, β-CTX, fracture compression rate, vertebra height recovery rate, reinforced vertebra number, and bone cement leakage were correlated with postoperative recurrence of fracture in patients with osteoporotic vertebral fracture ( P<0.05) . Multivariate Logistic analysis showed that long-term history of glucocorticoid use, preoperative number of fractured vertebrae, surgical vertebra number, fracture compression rate, vertebral height recovery rate, enhanced vertebral body number, bone cement leakage, blood calcium, PINP, and β-CTX were all independent risk factors for postoperative recurrence of osteoporotic vertebral fracture ( P<0.05) . ROC curve results showed that AUC, 95%CI and truncation value were 0.820, 0.770-0.871 and 2.12mmol/L vs 0.915, 0.873-0.957 and 45.51 ng/mL vs 0.973, 0.957-0.988, and 463.29 for serum calcium, PINP, and β-CTX respectively in predicting the recurrence of osteoporotic vertebral fracture. Conclusion:Kyphoplasty has a significant effect on osteoporotic vertebral fracture, and it can effectively improve the serum calcium, PINP, and β-CTX, which have a certain monitoring value for postoperative recurrence of fracture.
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Internuclear ophthalmoplegia mainly affects the horizontal movement disorder of the eyeball. "One and a half syndrome" is characterized by a combination of one eyeball on the affected side cannot be adducted and abducted, and the other eyeball cannot be adducted, but can be abducted accompanied by horizontal nystagmus due to the lesion of tegmental pontine. At present, articles have successively reported "eight and a half syndromes""nine syndromes""thirteen and a half syndromes" and so on. The rapid identification of "one and a half syndrome" spectrum is helpful for clinicians to make right positioning and clinical decision-making. A case of bilateral peripheral facial paralysis with bilaterally horizontal gaze palsy caused by pontine dorsal tegmental lesions is now reported, so as to improve the understanding of the anatomical location and heterogeneity of pontine lesion.
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We used the epidemic data of COVID-19 published on the official website of the municipal health commission in Anhui province. We mapped the spatiotemporal changes of confirmed cases, fitted the epidemic situation by the population growth curve at different stages and took statistical description and analysis of the epidemic situation in Anhui province. It was found that the cumulative incidence of COVID-19 was 156/100 000 by February 18, 2020 and the trend of COVID-19 epidemic declined after February 7, changing from J curve to S curve. The actual number of new cases began to decrease from February 2 to February 4 due to the time of case report and actual onset delayed by 3 to 5 days.
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Objective To understand the epidemiological characteristics of the cases of COVID-19 epidemic clusters, and explore the influence of family factors and social factors such as group activities on the spread of the disease. Methods The data of cases of COVID-19 epidemic clusters from 19 January, 2020 to 25 February, 2020 were collected from the official platforms of 36 cities in 6 provinces in China. Descriptive statistical methods, χ 2 test and curve fitting were used to analyze the epidemiological characteristics of the clustered cases. Results By 25 February, 2020, the data of 1 052 cases in 366 epidemic clusters were collected. In these clustered cases, 86.9%(914/1 050) occurred in families. Among the 1 046 cases with gender information, 513 were males (49.0%) and 533 were females (51.0%). The cases were mainly young adults between 18 and 59 years old, accounting for 68.5% (711/1 038). In the 366 epidemic clusters , the clusters in which the first confirmed cases with the history of sojourn in Wuhan or Hubei accounted for 47.0%(172/366). From 19 January to 3 February, 2020, the first confirmed cases with Wuhan or Hubei sojourn history accounted for 66.5%. From 4 to 25 February, the first confirmed cases who had Wuhan or Hubei sojourn history accounted for only 18.2%. The median of interval between the first generation case onset and the second generation case onset was 5 (2-8) days. The median of onset- diagnosis interval of the initial cases was 6 (3-9) days, and the median of onset-diagnosis interval of the secondary cases was 5 (3-8) days. Conclusions Epidemic clusters of COVID-19 were common in many cities outside Wuhan and Hubei. Close contact in family was one of the main causes for the spread of household transmission of the virus. After 4 February, the epidemic clusters were mainly caused by the first generation or second generation cases in local areas, and the time for diagnosis became shorter.
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Objective To investigate the feasibility and short-term efficacy of endplate reduction percutaneous pedicle screw (ERPPS) technique combined with short-segment percutaneous pedicle screw fixation for the treatment of AO type A3 thoracolumbar fractures.Methods A retrospective case control study was conducted to analyze the clinical data of 36 patients with type A3 thoracolumbar fractures without neurological symptoms and with comminuted endplates admitted to 903 Hospital of PLA from December 2015 to January 2018.Fifteen patients (Group A) were treated with ERPPS technique combined with short-segment percutaneous pedicle screw fixation,including 11 males and four females,aged (37.9 ±8.3)years.The injured segments were at T11 in 1 patient,T12 in 3,L1 in 6,L2 in 3 and L3 in 2.Simple short-segment percutaneous pedicle screw reduction and internal fixation was performed in 21 patients (Group B),including 14 males and seven females,aged (37.3 ± 9.5)years.The injured segments were at T~ in two patients,T12 in six,L1 in seven,L2 in four and L3 in two patients.The operation time,intraoperative bleeding and complications were recorded.The anterior vertebral body height ratioin (AVBHr),middle vertebral body height ratio (MVBHr),posterior vertebral body height ratio (PVBHr),Cobb angle of kyphosis and wedge angle of injured vertebrae were calculated based on the measurement by X-ray films taken before operation,during operation (after regular reduction),3 days after operation and 6 months after operation.Visual analogue scale (VAS) and Oswestry dysfunction index (ODI) were used to assess the pain and functional improvement.Results All patients were followed up for 11-30 months [(19.1 ± 5.0) months].The operation time was (62.8 ± 4.4)minutes in Group A and (60.1 ± 4.7)minutes in Group B (P ＞ 0.05).The intraoperative blood loss was (48.5 ± 5.1) ml in Group A and (48.0 ± 4.9) ml in Group B (P ＞ 0.05).All the incisions were healed by first intention without complications.The MVBHr of injured vertebra was (84.8 ± 4.4) ％ in Group A and (68.1 ±8.8)％ in Group B (P＜0.05).The MVBHr 6 months after operation was (81.3 ±4.9)％in Group A,significantly better than that in Group B [(63.6 ± 8.1) ％] (P ＜ 0.05).At 6 months after surgery,the kyphosis Cobb angle [(11.3 ± 3.2) °],the wedge angle [(10.5 ± 2.1) °] of the injured vertebra and the VAS [(1.1 ± 0.7) points] of Group A were significantly better than those of Group B [(13.4±2.3)°,(12.1 ±2.2) °and (1.9±1.1)points] (P＜0.05).There were no significant differences in AVBHr,PVBHr and ODI between the two groups (P ＞ 0.05).Conclusion For type A3 thoracolumbar fractures with endplate comminuted injury and without neurological symptoms,the ERPPS technique can effectively reduce the collapse of the central part of the upper endplate and improve the clinical results (less reduction loss and back pain) after short-segment percutaneous pedicle screw reduction and internal fixation under the premise of strict indications.
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Objective@#The difference in quality of life between patients with unilateral maxillary defect repaired by free fibular flap and anterior lateral femoral perforator flap was compared with questionnaire analysis.@*Methods@#In March 2014 to June 2015, 40 cases of tumor resection caused unilateral maxillary defects were included in this study, which were treated with free fibula flap or femoral anterolateral perforator flap in Peking University Stomatological Hospital. Two groups of patients were followed up one year after surgery, and the University of Washington Quality of Life Scale score was obtained.@*Results@#The score of fibular flap group was 89.37± 15.34 and score of anterior lateral femoral perforator flap group was 88.04±15.78(t=0.17, P=0.36).@*Conclusions@#There was no significant difference between free fibular flap and anterior lateral femoral perforator flap in improving postoperative quality of life.
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Objective To explore the influence factors for femoral head necrosis after treatment of femoral neck fractures with dynamic hip screw (DHS) and anti-rotation screw.Methods A retrospective case series analysis was made on the clinical data of 106 cases of femoral neck fractures who had undergone fixation with DHS and anti-rotation screw between May 2010 and May 2015.There were 59 males and 47 females,with an average age of 57.0 years (range,27-76 years).By Garden classification,there were 27 cases of type Ⅱ,51 cases of type Ⅲ and 28 cases of type Ⅳ.All cases were divided into femoral head necrosis group (18 cases) and none-necrosis group (88 cases) according to the radiographs of the fractured hip at the follow-up.Univariate analyses and a multivariate logistic regression analysis were made to test whether the following factors were significantly associated with femoral neck necrosis:sex,age,Garden classification,Pauwels classification,Singh index,injury-to-surgery time interval,reduction methods,reduction quality,complete weight-bearing time,implant removal and the time cost of implant removal surgery.Results All the 106 patients obtained a mean follow-up of 49 months (range,26-76 months).Femoral head necrosis occurred in 18 cases (17.0％).In univariate analyses,Garden classification,reduction quality,implant removal and long time of the implant removal surgery were significantly associated with femoral head necrosis (P ＜ 0.01).In multivariate logistic regression analysis,high level of Garden classification(95％ CI 0.008,0.998,P ＜ 0.05),implant removal and long time of the implant removal surgery (95％ CI 0.000,0.143,P ＜ 0.01) were found to have a significant effect on femoral head necrosis development.Conclusions Fracture displacement,removal of internal fixation and broadening the screw canal,which cand hinder the blood supply of femoral head,will enhance the rate of femoral head necrosis.As a result,it needs prudent consideration to remove internal fixation after internal fixation with DHS combined with anti-rotation screw for femoral neck fractures.When it is difficult to remove the anti-rotation screw,it is better to give up,rather than to force a removal.
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Objective To investigate the clinical features,diagnosis,treatment and prognosis of Dementia with Lewy Body (DLB) in order to improve doctors' understanding and experience.Methods Thirteen cases of clinicall diagnosed DLB were analyzed.The clinical manifestations,neurological examination,laboratory tests,treatment and prognosis were analyzed.Results All of 13 patients had fluctuating dementia.Among them,11 were diagnosed with probable DLB,and 2 were diagnosed with possible DLB.There were 8 cases (8/13) with volatility cognitive impairment,8 cases (8/13) with Parkinson's syndrome,8 casess (8/13) with visual hallucinations,13 cases (13/13) with memory loss,4 patients with limb tremor (4/13),5 cases with delirium (5/13),3 cases with increased sleep (3/ 13),1 case with silence (1/13),9 cases with anxiety and depression (9/13),one case with dizziness (1/13),6 cases with abnormal dysplasia (6/13),and one case with abnormal sensitive to diazepam (1/13).The cognitive function fluctuated,the condition deteriorated and two patients died during the follow-up from 6 months and 5 years.Conclusions Lewy body dementia is an irreversible and progressive neurodegenerative disease.Comprehensive understanding of its clinical features is helpful for the early diagnosis and treatment,which may in turn improve the prognosis.
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Objective To understand the prevalence of unsafe riding practice among electric bicycle riders,and to provide scientific basis for intervention strategies in Ma'anshan city of Anhui Province.Methods Observational method was used to observe electric bicycle riders' behavior of running red light,wearing a helmet,and manned act.The radar speed measuring instrument was used to measure the speed of electric bicycle.Results The rate of electric bicycle riders' running red light was 13.09％ (1 285/9 815),helmet wearing rate was 5.90％ (1 510/25 576),and manned rate was 20.28％ (5 187/25 576).The average speed was 24 ki/h,and the electric bicycles whose speed were ＞ 20 km/h accounted for 74.60％.There were significant differences in the running red light rate,helmet wearing rate and the average speed of travel among different time periods and dates (all P ＜ 0.05).More running the red light occurred during 13:30-14:30 and 15:00-16:00.Less helmet wearing occurred during 10:00-11:00 and 08:30-09:30.The periods with highest average speed were at07:00-08:00,08:30-09:30,11:30-12:30,and 13:30-14:30,which was 24 km/h.The helmet wearing rate of females (6.54％) was higher than that of males(5.46％),the men's average speed (24 km/h) was higher than women's (23 ki/h),and the differences were both statistically significant(all P ＜ 0.001).Conclusion The electric bicycle riders in Ma'anshan city of Anhui Province have the dangerous behavior of running red lights,not wearing a helmet,manned act and speeding.Targeted interventions should be taken to reduce the occurrence of related risk behaviors.
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Objective To explore the influence factors for femoral head necrosis after treatment of femoral neck fractures with dynamic hip screw (DHS) and anti-rotation screw.Methods A retrospective case series analysis was made on the clinical data of 106 cases of femoral neck fractures who had undergone fixation with DHS and anti-rotation screw between May 2010 and May 2015.There were 59 males and 47 females,with an average age of 57.0 years (range,27-76 years).By Garden classification,there were 27 cases of type Ⅱ,51 cases of type Ⅲ and 28 cases of type Ⅳ.All cases were divided into femoral head necrosis group (18 cases) and none-necrosis group (88 cases) according to the radiographs of the fractured hip at the follow-up.Univariate analyses and a multivariate logistic regression analysis were made to test whether the following factors were significantly associated with femoral neck necrosis:sex,age,Garden classification,Pauwels classification,Singh index,injury-to-surgery time interval,reduction methods,reduction quality,complete weight-bearing time,implant removal and the time cost of implant removal surgery.Results All the 106 patients obtained a mean follow-up of 49 months (range,26-76 months).Femoral head necrosis occurred in 18 cases (17.0％).In univariate analyses,Garden classification,reduction quality,implant removal and long time of the implant removal surgery were significantly associated with femoral head necrosis (P ＜ 0.01).In multivariate logistic regression analysis,high level of Garden classification(95％ CI 0.008,0.998,P ＜ 0.05),implant removal and long time of the implant removal surgery (95％ CI 0.000,0.143,P ＜ 0.01) were found to have a significant effect on femoral head necrosis development.Conclusions Fracture displacement,removal of internal fixation and broadening the screw canal,which cand hinder the blood supply of femoral head,will enhance the rate of femoral head necrosis.As a result,it needs prudent consideration to remove internal fixation after internal fixation with DHS combined with anti-rotation screw for femoral neck fractures.When it is difficult to remove the anti-rotation screw,it is better to give up,rather than to force a removal.
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Objective To understand the incidence pattern of fall among older adults in Anhui province during 2006-2014,and provide scientific basis for intervention strategies and decision-making.Methods The incidence data of fall in elderly adults from 6 sentinel hospitals in 2 national injury surveillance areas in Anhui province between 2006 and 2014 were collected for this descriptive epidemiological analysis of the overall incidence trend,demographic characteristics,case distribution and clinical characteristics of fall cases in the elderly.Results The fall case number,the proportions of fall cases to injury cases and to overall fall cases in the elderly all increased from 2006 to 2014.The fall was the first cause of the elderly injury during the past 9 years.The sex ratio was 0.74 and the cases in males decreased with age.In both males and females,the cases in retirees and the jobless accounted for the highest proportions.The annual incidence peak was during August to October,and two daily incidence peaks were during 9 am-ll am and 16 pm-18 pm.The elderly falls mainly occurred at home (62.07％),and more females were affected than males (70.27％ vs.50.97％).Leisure activity and homework related falls accounted for 49.18％ and 28.67％ respectively,and more housework related falls occurred in females than in males.Contusion/abrasion was the first injury caused by fall in males (42.63％) and fracture was the first injury caused by fall in females (47.27％).Head was the first injury site in males (38.04％) and leg was the first injury site in females (29.29％).Most injuries caused by fall were mild (55.12％) and moderate (41.84％) in severity,but the proportions of moderate and severe cases increased gradually with age.Conclusion Fall in the elderly has become a public health problem.It is necessary to take targeted prevention and control measures according to the gender and age distributions of the fall in the elderly.
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Objective To understand the incidence pattern of fall among older adults in Anhui province during 2006-2014,and provide scientific basis for intervention strategies and decision-making.Methods The incidence data of fall in elderly adults from 6 sentinel hospitals in 2 national injury surveillance areas in Anhui province between 2006 and 2014 were collected for this descriptive epidemiological analysis of the overall incidence trend,demographic characteristics,case distribution and clinical characteristics of fall cases in the elderly.Results The fall case number,the proportions of fall cases to injury cases and to overall fall cases in the elderly all increased from 2006 to 2014.The fall was the first cause of the elderly injury during the past 9 years.The sex ratio was 0.74 and the cases in males decreased with age.In both males and females,the cases in retirees and the jobless accounted for the highest proportions.The annual incidence peak was during August to October,and two daily incidence peaks were during 9 am-ll am and 16 pm-18 pm.The elderly falls mainly occurred at home (62.07％),and more females were affected than males (70.27％ vs.50.97％).Leisure activity and homework related falls accounted for 49.18％ and 28.67％ respectively,and more housework related falls occurred in females than in males.Contusion/abrasion was the first injury caused by fall in males (42.63％) and fracture was the first injury caused by fall in females (47.27％).Head was the first injury site in males (38.04％) and leg was the first injury site in females (29.29％).Most injuries caused by fall were mild (55.12％) and moderate (41.84％) in severity,but the proportions of moderate and severe cases increased gradually with age.Conclusion Fall in the elderly has become a public health problem.It is necessary to take targeted prevention and control measures according to the gender and age distributions of the fall in the elderly.
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Objective To analyze the demographic characteristics and the death causes of the residents in Anhui province,and provide evidence for the disease prevention and control.Methods Using descriptive epidemiological analysis,the demographic characteristics and death data of the national disease surveillance points (DSPs) in Anhui province in 2013 were analyed by areas.Results The aging of the population was observed in all the areas in Anhui,which was most obvious in Jianghuai,followed by Wannan and Huaibei.The overall mortality was 627.10/100 000.The mortalities of diseases varied with sex,area and age.Among the 3 areas,the overall mortality,chronic disease mortality and injury mortality were highest in Huaibei and lowest in Wannan.The area specific difference in mortality of infectious diseases was small.Regardless of areas or the types of diseases,the mortality was higher in males than in females.Deaths caused by diseases with unknown origins were common in residents aged ＞ 65 years.The mortality of chronic diseases was higher in residents aged ＞45 years,especially in those aged 65-84 years.The mortality of injuries was higher in age groups ＞15 years and ＞45 years.The mortality of infectious diseases peaked at both young age group and old age group.The top five death causes were cerebrovascular diseases,malignant tumors,heart diseases,respiratory diseases and injuries.Regardless of sex or area,the major death causes were similar,but the ranks were slightly different.The major death causes varied in different age groups,but they were similar in same age group in different areas.The major death causes were diseases originated in perinatal period,and congenital malformations,deformations and chromosomal abnormalities in children aged ＜ 1 year.The major death causes in children aged 1-14 years were injuries,diseases originated in perinatal period,congenital malformations,deformations and chromosomal abnormalities.Injuries and malignant tumors were the first and second death causes in residents aged 15-44 years.Malignant tumors,injuries,cerebrovascular diseases and heart diseases were the major death causes in residents aged 45-64 years.The major death causes were cerebrovascular diseases,malignant tumors,heart diseases and respiratory diseases in residents aged 65-84 years and heart diseases,cerebrovascular diseases,respiratory diseases and malign tumors in residents aged ≥85 years.Conclusion The major death causes in residents in Anhui province were cerebrovascular diseases,malignant tumors and injuries.Close attention should be paid to the prevention and control of cerebrovascular diseases,malignant tumors and heart diseases in age group ≥45 years.It is necessary to strengthen the prevention and control of injuries in age group 15-44 years.Huaibei is a key area of disease prevention and control in Anhui,especially chronic disease and injury preventions.
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Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.
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Objective To explore the value of the diagnosis of middle cerebral artery (MCA) stenosis with transcranial Doppler ultrasound (TCD). Methods The clinical data in patients with ischemic cerebrovascular disease examined with digital subtract angiography (DSA)and TCD were analyzed retrospectively. DSA was used as a gold standard to analyze the sensitivity and specificity of the diagnosis of MCA stenosis with TCD. The normal and TCD blood flow velocity with different degrees of stenosis were compared. The best cut-off point of the TCD blood flow velocity of MCA at different degree of stenosis was calculated. Results DSA confirmed that 103 patients had MCA stenosis or occlusion, in which 12 were mild stenosis, 22 were moderate stenosis, 40 were severe stenosis, and 39 were occlusion. Compared to DSA, the sensitivity of TCD in detection of moderate and severe MCA stenosis or occlusion was 78. 8%, the specificity was 96. 0%, and the accuracy was 93. 0%, the missed diagnosis rate was 21. 2%, and the misdiagnosis rate was 4. 0%. As to the blood flow velocity, there was no significant difference between the mild stenosis and normal groups; while there was significant difference between the moderate stenosis and normal groups (P ＜0. 001). In addition, there was no significant difference in blood flow velocity between the moderate stenosis and severe stenosis groups. Determining the cut-off value of the best peak systolic velocity of the moderate stenosis was 163. 5 cm/s, while the best cut-off value of the mean velocity was 108. 5 cm/s. Conclusions TCD has certain advantages in the diagnosis of the MCA stenosis or occlusion, and it can be used as a safe and inexpensive screening means before DSA examination.
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Intracranial atherosclerotic stenosis is one of the important causes of ischemic stroke. It is of vital importance to guide clinical treatment using imaging methods to diagnose intracranial artery stenosis and accurately assess the degree of stenosis. This article reviews the advantages and shortcomings,advances and clinical application values of diagnosing intracranial artery stenosis using transcranial Doppler ultrasound,transcranial color-coded duplex sonography,intravascular ultrasound,magnetic resonance angiography,computed tomography angiography,and digital subtract angiography,which will provide references for clinicians to select ideal checking tools.
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Objective To investigate the clinical features and analyze the molecular genetics of a pedigree of limb girdle muscular dystrophy (LGMD).Methods Pedigree analysis and clinical examination were performed in one four-generation family with LGMD.Electrophysiology and muscle biopsy were done in the affected members.With an informed consent, gene mutation, genome screening and linkage analysis were conducted in 26 members of this pedigree.Results Seven patients were identified.Pedigree analysis was consistent with autosomal dominant inheritance.Affected members had early presentation.Main features included proximal muscle weakness without dysarthria nor spasticity; electrophysiology and muscle biopsy revealed myopathic changes.LGMD1 A, 1B, 1C and facioscapulohumeral dystrophy genes were not detected by gene mutation analysis.Genome screening and linkage analysis did not reveal any linkage with the disease-causing gene and the reported loci of LGMD1D and LGMD1F genes.Conclusions The clinical manifestations of this LGMD family are highly heterogeneous, and the disease-causing gene of this family is not linked to any of the reported sites, suggesting this may be a new disease-causing locus, or a new genetic type of LGMD.
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Objective To identify a locus at chromosome coding for hereditary palmoplantar keratoderma of three Chinese pedigrees.Methods The genome scan was conducted with microsatellite markers on chromosome 12(D12S85、D12S368、D12S83、D12S345)and 17(D17S1868、D17S787、D17S1857、D17S798、D17S944、D17S949)respectively on the ABI 3100 Genetic Analyzer(Applied Biosystems).Two-point LOD score was calculated.Results The maximum two-point LOD score 6.59 and 5.96 at ?=0.1 were obtained at D17S1868 and D17S787 on chromosome 17q12～q21.It is an evidence of linkage between this disease and KRT9 which has been mapped within the region.Conclusion There is a locus responsible for this disease on chromosome 17q12～q21.
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Objective To investigate and analyse the effect of PBL teaching method on the clincal medical students of different level,furthermore,to provide an effective guide for biochemistry teaching method reform.Methods Comparing the results of traditional teaching method and PBL teaching method in biochemistry on the clinical medical students of different level,and analyzing the applicable of PBL to various students.Results The seven-year students had a significant higher score in sum record by using PBL teaching method(P
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Objective To study the pattern of activities of microglia, the patholgical changes of chronically hypoperfused brain of rats and the interrelationship between them. Methods Model of chronically hypoperfused brain was established in rat by the ligation of both common carotid arteries, and the histopathological changes of brain were observed with light microscope. The activity of microglia of the brain were also observed with immunohistochemistry method and the number of microglia was measured with image analyzer. Results Extensive activation of microglia was observed after chronic cerebral hypoperfusion and the activation was increased with the elapse of time of hypoperfusion. There were obvious pathological change in the brain after the chronic cerebral hypoperfusion, such as myelinic degeneration and formation of glial nodule in white matter. After treated with cyclosporin A, the number of microglia was obviously reduced, but the pathological change was evidently decreased. Conclusion The activation of microglia resulted from chronic cerebral hypoperfusion is relates to the pathological changes of the brain. However, cyclosporin A can decrease the pathological change and inhibit the activation of microglia.