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OBJECTIVE@#To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.@*RESULTS@#The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots on the back of hands, feet and face. Sanger sequencing confirmed that the proband and his mother have both harbored heterozygous splicing variant c.2762+1G>T in exon 9 of the ADAR gene, which was unreported previously. The same variant was not detected among 100 healthy controls. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).@*CONCLUSION@#The c.2762+1G>T variant of the ADAR gene probably underlay the DSH in this pedigree. Above finding has enriched the spectrum of ADAR gene mutations.
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Humanos , Adenosina Desaminase/genética , China , Mutação , Linhagem , Transtornos da Pigmentação/congênito , Proteínas de Ligação a RNA/genéticaRESUMO
Objective@#To evaluate the effectiveness of mumps prevention and control after implementation of two doses mumps-containing combined vaccine (MuCV) policy by analyzing epidemiological characteristics of mumps and mumps antibody levels in general population.@*Methods@#We obtained data on cases of mumps reported during 2004-2015 from National Notifiable Diseases Reporting System (NNDRS). Descriptive analysis methods were used to describe the epidemiological characteristics of mumps during 2004-2015. MuCV immunization information from 2005 to 2015 was obtained from the immunization information management system in Shandong Province. Antibody data of mumps in healthy people were from a cross-sectional survey according to the principle of stratified random sampling from 0 to 60 years old healthy people in 2015. Commercial ELISA kits were used to detect and quantify human IgG antibodies against mumps virus in sera, and the results were analyzed statistically.@*Results@#The average incidence of mumps from 2004 to 2015 was 11.43/100 000 in Shandong. The incidence of mumps in the central region (14.64/100 000) was higher than that in the eastern and western regions (11.14/100 000, 11.33/100 000). The incidence of mumps was still high in 2009-2013 (stage of one-dose MuCV free, 16.07/100 000) with the highest incidence of 25.33/100 000 and 24.45/100 000 occurred in 2012 and 2013 and the cases were mainly 6 to 9 years old group (172.67/100 000). Since the second dose MuCV was introduced into NIP for 6 years old children in May 2013 in Shandong, the incidence of mump decreased significantly in 2014-2015 (7.81/100 000), especially in children of 6-8 years old who were vaccinated with two doses of MuCV (2009-2013 was 114.02/100 000; 2014-2015 was 45.66/100 000) and lower than 3-5 years old vaccinated one doses of MuCV. A total of 1 785 serum samples were collected from the healthy population, the average seroprevalence was 80.62% and Geometric Mean Concentration (GMC) was 38.11 IU/ml (95%CI: 37.03-39.19 IU/ml) . There was no significant difference about seroprevalence in different regions, while the GMC in middle region was significantly higher compared to east and west region. The prevalence and GMC in children aged 19 months-2 years and 3-5 years old who received one dose of MuCV were significantly higher than those of <19 months old children. The GMC (46.88 IU/ml, 95%CI: 39.43-55.74 IU/ml) in children aged 6-9 years old who received the two doses MuCV was significantly higher than that of aged 3-5 years old children (31.71 IU/ml, 95%CI: 27.23-36.93 IU/ml).@*Conclusion@#The incidence of mumps in Shandong was still at a high level in spite of coverage one doses MuCV to children. Compared with the period of the 1 dose MuCV immunization strategy, the incidence the groups coverage two doses MuCV was significantly reduced and lower the groups coverage one dose MuCV, but the prevalence and GMC were higher than that of the groups coverage one dose MuCV.
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Objective To investigate the variations of glomerular function in rabbits with partial unilateral ureteral obstruction (PUUO). Methods Thirty healty adult Japanese White Rabbits were randomly divided into the control group (6 rabbits) and the obstruction group (24 rabbits). The right PUUO model was established according to Cheng′s method. According to the PUUO duration, they were eaqually divided into four subgroups:the 7 day PUUO group, the 14 d PUUO group, the 28 d PUUO group and the 56 d PUUO group. The dynamic renal imaging was performed on all rabbits, and the glomerular filtration rate (GFR) was also calculated. The correlation between the renal function and PUUO duration was analyzed , and functional variations in the healthy kidneys were observed. Results (1)To the control group, no significant difference in the renal function was found between the left and the right kidneys (t = -0.145, P = 0.894). However, to the PUUO group, the right renal GFRs were significantly lower than the left renal GFRs (P 0.05), (3)No significant differences were found in the left renal GFRs among the five groups. Conclusions The function of PUUO kidneys is characterized by an obvious decrease in the early stage, followed with a steady state. The basic function of the opposite healthy kidney does not present the compensation phenomenon.
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Objective To explore the influence of age factor on the treatment of cutaneous hemangioma with (90Sr-90Y) applicator.Methods A total of 224 babies and children of different ages with cutaneous hemangioma were treated by using 90Sr-90 Y applicator.Then,the relation between their therapeutic effects and ages were analyzed respectively.Results The differences in the therapeutic effect between group of one month to less than one year and group of one to less than five years,and group of one month to less than one year and group of five to ten years,and between group of one to less than five ages and group of five to ten years (P＜0.05),were statistically significant.With an increase of the age,the recovery rate gradually decreased,but their effective rate,improvement rate and ineffective rate increased.In the 199 well-healed or effective patients,the differences in the distribution of treatment course between group of one month to less than one year and group of one to less than five years,and group of one month to less than one year and group of five to ten years,were statistically significant (P＜0.05); but the difference in the distribution of treatment course between group of one to less than five ages and group of five to ten years was not statistically significant (P＞0.05).The number of treatment course presented an increased tendency with an increase of the age for patients.Conclusions The age of patients is a factor influencing the therapeutic effect on cutaneous hemangioma with 90 Sr-90Y applicator.The younger the patients,the better their therapeutic effects,the shorter their courses of treatment,and the smaller the adverse reaction of beta ray.
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@#From the psychology point of view, the stroke patients have the cognitive process from sensation, perception to image and memory on spasticity, limbs synergic movement and normal movement when having rehabilitation. While treating the patients with Bobath or Brunnstrom therapy, the patients' motion perception and thinking memory should be promoted. Because the rehabilitation of body movement and psychological perception activity are influenced each other and inseparable.
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Objective To observe the influence of Zhenweifang on the muscle tension in flaccid paralysis period and prognosis of stroke.Methods One hundred and eighty patients were randomly divided into basic group,Buyanghuanwutang group and Zhenweifang group.Basic group was treated with usual medical treatment with nerve rehabitilation and acupuncture.Buyanghuanwutang group and Zhenweifang group were given the corresponding traditional Chinese medicine.Patients in Buyanghuanwutang group and Zhenweifang group stop taking the traditional Chinese medicine when their muscle tension reach the level of Ashworth Grade Ⅱ,and continued their basic treatment.The defect of neurological and daily life ability were evaluated after three-week and six-week treatment,and the prognosis was evaluated according to clinical efficacy.Results The time that patients muscle tension in Zhenweifang group need to reach Ashworth Grade Ⅱ was much shorter than that in Buyanghuanwutang group and basic group(P
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Objective: To observe the effect of Weiyanyin on Motilin (MOT) in blood plasma of experiment bile reflux gastritis rats. Methods: To make the model of experiment bile reflux gastritis by drinking reflux liquid, compared with Domperidone.The effect of Weiyanyin on Pathological histology and MOT in blood plasma of bile reflux gastritis rats was observed. Results: The mucosal of rats in model group was damaged, amotic, and a lot of inflammatory cell could be seen, glandular organ hyperplasy and intestinal metaplasia in most of rats; At the same time the content of the MOT was decreased; Compared with model group, Weiyanyin could improve pathological histology of experiment bile reflux gastritis rats, and increase the content of MOT(P
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Objective To investigate the impact of renal function and insulin resistance on serum total homocysteine(tHcy) levels in aged diabetic patients with nephropathy. Methods Serum tHcy, blood glucose, lipids, renal function, serum insulin were measured for 98 elderly patients with type 2 diabetes and 36 normal control subjects. Results (1) Serum tHcy levels were significantly higher in diabetic group than in control group [(17.2?7.6) ?mol/L vs (9.4?3.5)?mol/L,P
