Objective To perform gene diagnosis of Duchenne muscular dystrophy (DMD) in 3 family members who were negative for DMD gene detected by multiplex PCR and to provide genetic counseling for their family members accordingly .Methods The clinical data and genomic DNA of patients and their family members were collected ,DMD gene mutation were detected by multiplex ligation dependent probe amplification (MLPA) or the 2nd generation of high‐throughput sequencing .Results In the first family ,3 male patients were detected deletion of Exon 7 and 2 female were heterozygous carriers .In the second family ,it was found in the proband that point mutation of c .3127C> T in the Exon 23 of chrX‐32486626 and c .3127C> T heterozygous mutations was confirmed in his mother ,the mother was pregnant with a girl .In the third family ,point mutation of c .2411G>A was detected in the Exon 20 of chrX‐32509581 in the proband and his mother had c .2411G> A heterozygous mutation .Conclusion MLPA or combining with the 2nd generation of high‐throughput sequencing can offer effective gene diagnosis for the patients of DMD and their family members ,and provide the basis for genetic counseling and prenatal diagnosis .

Adolescent ; Catheter Ablation ; methods ; Humans ; Male ; Pre-Excitation, Mahaim-Type ; Tachycardia, Atrioventricular Nodal Reentry ; surgery

OBJECTIVE:To explore the relevant factors that led to the adverse drug reaction(ADR)of netilmicin.METHODS:ADR cases resulted from netilmicin reported in12kinds of Chinese periodicals from1998to2003were analyzed statistically.RESULTS:The ADR of netilmicin involved multiple organs and systems,the clinical manifestation were compli-cated and diversified,which manifested mainly on the renal toxicity,toxicity of nervous system and allergic reaction.CON-CLUSION:Clinician and pharmacists should be alert to the ADR of netilmicin and keep using drugs rationally.

Objective To determine the quality of life of patients treated with one of three different types of surgery for breast cancer.Methods This was a cross-sectional study using a questionnaire survey completed by Chinese patients without active disease after at least 2 years of follow-up after breast cancer surgery.Results This study totally included 139 breast cancer patients:44 ( 31.6%) had undergone modified radical mastectomy with reconstruction, 41(29.5%)had a quadrantectomy with axillary lymph node dissection, and 54(38.9%)had a modified radical mastectomy without reconstruction.The EORTC QLQ-C30 and EORTC QLQ-BR23 question-naires were used;their reliability was>0.82.Global health status(94.30 ±12.04, P=0.028)and role functio-ning(85.16 ±17.23, P=0.138)were highest in the quadrantectomy group.Pain score was highest in the modi-fied radical mastectomy with reconstruction group(26.13 ±30.15, P =0.042).The breast symptom score (22.56 ±22.30, P=0.009)and body image perception(85.56 ±19.72, P=0.025)were highest in the conser-vative treatment group.The overall health of patients given modified radical mastectomy without reconstruction was lower(72.61 ±20.89, P=0.014) in women older than 50 years compared with younger women.Conclu-sions The quadrantectomy with axillary lymph node dissection procedure had better acceptance, but the overall health status did not differ between groups.Overall health status is lower in women older than 50 years receiving a modified radical mastectomy without reconstruction.

Radiation-induced lung injury (RILI) is a common complication in thoracic cancer patients through radiotherapy, which can be divided into the early-stage radiation-induced pneumonitis (RP) and late-stage radiation-induced lung fibrosis (RILF). At present, glucocorticoids are mainly adopted in the clinical treatment of RP. However, there has been no effective medical treatment for RILF. RILF patients will eventually die from respiratory failure. The exact mechanism of RILI remains unclear. Current studies have proposed that its possible pathogenesis might consist of genetic heterogeneity, oxidative stress and cell damage. In this review, studies related to the pathogenesis of RILI were summarized.

Objective To investigate the localization,zone and activation intensity of olfactory center in young versus elderly healthy volunteers by functional magnetic resonance imaging (BOLD-fMRI),so as to elucidate the effect of age on olfactory center in healthy population.Methods Thirteen right-handed healthy adult volunteers were recruited and divided into two groups:young group (5 males and 3 females,mean aged 23 years) and elderly group (2 males and 3 females,mean aged 69.2 years).The olfactory stimulus was r-undecalactone,and it was given according to a block design.The fMRI detection was performed on Philips Achieva 3.0 T MR scanner,and data of BOLE-fMRI was processed and analyzed to get cerebration image by using SPM2.Results In groupaveraged maps,both young and elderly group showed significant olfactory activation in right parahippocampal gyrus,left hippocampal sulcus,right and left superior temporal gyrus,etc,subcortical activation in right thalamus,dorsal pons,and cerebellum activation in cerebellar vermis.Activations in right inferior frontal gyrus,right middle frontal gyrus,right medial occipito-temporal gyrus and right fimbria of hippocampus were observed only in young group,while activation in bilateral middle temporal gyrus was observed only in elderly group.Activation area was apparently smaller and activation degree was lower in elderly group than in young group.Activation intensity in right superior parietal lobule and bilateral superior temporal gyri was higher in male group than in female group (t=13.7,6.08,5.36,respectively,all P＜0.001).Conclusions The intensity of activation in olfactory center is lower in the elderly than in the young,and absence of part of the active regions is found in the elderly,which demonstrates the regression of olfactory center in the elderly.The olfactory center shows right-predominant activation,and olfactory activation intensity in some cortical regions is higher in males than in females.

Objective To study the present situation of legionella pneumophila(Lp) infection of low respiratory tract infection in children less than 5 years old.Methods Three hundred hospitalized patients with the diagnosis of low respiratory tract infection were enrolled in the study,191 males,109 females,aged 27 d to 5 years old,course from 1 d to 6 months.Serum antibody(IgM,IgG) of Lp serogroup 1-7 was detected by enzyme-linked immunosorbent assay(ELISA).Results In the patients,17 cases were positive,and the positive rate was 5.67%.Of the 17 children,the males(n=11) and females(n=6) did not significantly influence the positive rate(5.76% vs 5.50%).Four of them were between 27 days and 1 year old;7 were 1 to 3 years old,6 were 3 to 5 years old.The positive rates were significantly different among the 3 groups(2.53% vs 7.37% vs 12.77%) and tendentially increased following the increase of age(?2=7.8164 P

Objective To observe the efficacy of prophylactic use of gramsetron(Gra) combined with dexamethasone(DEX) on preventing postoperative nausea and vomiting(PONV) after umbilical one-trocar laparoscopic appendectomy(UOTLA)in children.Methods Sixty children requring UOTLA under general anesthesia were allocated randomly into 3 groups,and each of group included 20 children.Group saline(C),group Gra 40 ?g/kg,group Gra 40 mg/kg and group DEX 0.2 mg/kg(Gra+DEX) were respectively injected intravenously after appendectomy performed outside the abdominal cavity during the operation.Results The incidence of PONV decreased significantly in group Gra and group Gra+DEX than that in group C(Pa

AIM: To describe the prevalence and causes of low vision and blindness in a population within Sichuan province in southwestern China.METHODS: A stratified, multi-phased and cluster probability sampling design was employed to enumerate 125 641 participants from 40 351 households within 38 counties/cities. Participants underwent a comprehensive eye examination, including standardized visual acuity (VA) tests using logarithm of the minimum angle resolution charts. Prevalence was age- and gender-standardized to the 2000 China Census.RESULTS: Population-weighted prevalence of blindness was 0.77% (95% CI: 0.72- 0.82, n=966) and low vision was 1.22% (95% CI: 1.14-1.27, n=1 513). Overall, the prevalence of visual disability was 1.40% in the urban population, and 2.22% in the rural population (P<0.01). Cataract was the leading cause of visual disability (55.7%, n=1 381), and was of similar frequency in both urban and rural populations. Retinal disease was the second leading cause (9.7%, n=236), but was more common in urban than rural participants (34.3% vs 2.7%, P<0.01). Corneal disease accounted for 6.5% (n=161) of cases of visual disability, and was more common in the rural population (7.2% vs 3.9%, P=0.006). CONCLUSION: We estimate that 1.72 million people suffer from visual disability within Sichuan province, of which 525 000 are blind, the focus of blindness prevention should be in rural area.

ObjectiveTo investigate the action mechanism of CD20 lymphocyte infiltration in the renal allograft biopsy with chronic allograft nephropathy (CAN).MethodsCAN cases confirmed by renal biopsy within 2 years after renal transplantation served as study subjects. By using immunohistochemistry,the deposition of C4d and the CD20-positive lymphocytes infiltration in the renal grafts were examined.The clinical follow-up data were analyzed.ResultsForty-four cases of CAN were enrolled in the study, including 13 cases (29.5％ ) of CD20-positive lymphocytes infiltration,and 31cases (70.5％ )of CD20-negative lymphocytes infiltration. CD20-positive lymphocytes in biopsy showed nodular and scattered lymphocytes infiltration.There were 5 (26.3％)cases of CAN Ⅰ,4 cases (25.0％) of CAN Ⅱ,and 4 (44.4％) of CAN Ⅲ in CD20-positive group.There was no statistically significant difference between the only CAN group and CAN with AR group in CD20-positive rate.Immunohistochemical staining showed there were 12 cases (27.3％) with C4d linear deposition in peritubular capillary endothelial cells (PTC).C4d positive rate had no significant difference among the CAN classifications. There was no significant relationship between C4d deposition and CD20-positive lymphocytic infiltration.The average serum creatinine in CD20-negtive group and CD20-posigtive group was 140.8 ± 22.0 and 183.5 ± 25.5μmol/L before biopsy,and 165.6 ± 37.6 and 242.2 ± 59.1 μmol/L one year after biopsy.The average serum creatinine level in CD20-positive group was higher than in CD20-negtive group before and after biopsy.ConclusionProgressive chronic humoral immunity is high risk in the process of CAN. The CD20-positive lymphocyte infiltration has no relevance with CAN grade and C4d deposition in PTC,but is associated with circulating antibody PRA and allograft long-term outcome. Pathogenetic mechanism may not contribute to chronic humoral immune,but B cells presenting donor antigens,are recognized and activated by T cells as antigen-presenting cells.