An adult patient with hypophosphatasia caused by compound heterozygous mutations in alkaline phosphatase,liver /bone /kidney(ALPL)gene was investigated through comprehensively reviewing the medical history and clinical records of the proband and her family members in order to better understand the disease.The proband and her older sister had mild decreased serum alkaline phosphatase level accompanied with frequently nontraumatic fractures at limbs and all the teeth fell off at the age of 20 and 7, respectively.Both of them carried a missense mutation c.407G>A(p.Arg136His)in exon 5 and a deletion mutation c.1318_1320delAAC(p.Asn440del)in exon 12 simultaneously.Other four family members were p.Arg136His mutation carriers and two members were p.Asn440del mutation carriers.We found that p.Asn440del mutation was associated with the oral disorders.In this family, compound heterozygous manifested more serious symptoms, while heterozygous showed relatively mild symptoms.In addition, it is necessary to differentiate it from primary osteoporosis and other diseases of disturbed bone mineralization.

Objective To explore the application effect of the adult education theory in the nursing round. Methods 340 trainee nurses, who were trained at our surgical department between June 2008 and December 2009, were randomly divided into the experimental group(178 cases)and the control group(162cases). The adult education theory was adopted in the experimental group, whereas the traditional education method was used in the control group, a questionnaire was carried out after the nursing visit. Results The experimental group was more satisfied with the round visit than the control group. Conclusions The application of the adult education theory in the round visit is beneficial not only to the students' selection of the topics of nursing visit, but also to the improvement of the students' understanding and communicating capacity, the students' studying interests and the students' creative thinking, finally the degree of satisfaction to the round visit is increased by the adoption of this theory.

In this study ,we analyzed the genetic characterizations and propagation paths of measles viruses prevalent in Ningbo ,China from 2004 to 2013 .Measles viruses were isolated from throat swab specimens from 2004 to 2013 ,and 450 bp fragments of C terminus of nucleoprotein (N) gene were amplified by RT-PCR .Sequence analysis was conducted of all 31 virus strains ,and then compared with other measles virus strains published in GenBank .Results showed that all the 31 measles virus isolates belonged to genotype H1 ,6 strains (one strains in 2004 and 5 ones in 2005) belonged to H1b subtype ,and others be-longed to H1a subtype .Compared the 31 strains to the China 93-4 and China 94-7 ,the homology of 450 bp fragments of C ter-minus of nucleoprotein (N) gene were 97 .1%-100% and 96 .7%-100% ,respectively .The homology of 450 bp fragments of nu-cleotide and nucleotide (amino acids) compared with S191 were 81 .9%-92 .4% and 87 .2%-90 .6% ,respectively .It’s suggested that genotype H1 measles virus circulated in Ningbo from 2004 to 2013 ,and H1a was the predominant epidemic strain ,and H1b strain was existed as well .There are five different transmission chains of H1a subtype caused measles co-circulations in Ning-bo .

The basic mechanical properties of a Radial Shock Wave Therapy Equipment (RSWTE) were experimentally studied in this paper. The output energy of the RSWTE working on the operation frequency of 10 Hz was measured by dynamic pressure transducer under the conditions of different operation pressure. The results showed that both operation pressure and operation frequency have effects on the output energy of the equipment. The output energy increases with the increase of operation pressure, and the magnitude of increased energy decreases with higher operation of frequency. With the increase of operation frequency, the output energy rises up in condition of lower operation pressure and drops off in condition of higher operation pressure. The accurate medical treatment should be selected with the optimized energy and condition according to the treatment requirement to different illness in clinical medical applications.
Equipment Design ; High-Energy Shock Waves ; Physical Therapy Modalities ; instrumentation ; Pressure

Studies have found that obesity is not only closely related with the occurrence and development of breast cancer,but also can significantly increase the risk of breast cancer recurrence and death,especially the occurrence of postmenopausal estrogen receptor positive breast cancer.Therefore,it is of great importance to understand the influence of obesity on the prognosis of breast cancer.The intervene of diet and lifestyle,metformin and other drags,and other obesity targeted therapies have provided direction for future research on these influence.

Objective To explore the effectiveness of fast-track surgery ( FTS) in perioperative nursing of patients with percutaneous nephrolithotomy lithotomy with upper-pole access (PCNL).Methods Seventy-six kidney stone ( KS) patients with PCNL in our hospital from November 2011 to December 2013 were chosen and randomly divided into the control group and the intervention group , each with 38 cases.The control group received the routine nursing , and the intervention group received the FTS nursing intervention .The hospital stays, the costs of treatment , the score of BI index of living scale and the incidence of complication were recorded and the patients ’ satisfaction were investigated at the end of nursing in two groups .Results The hospital stays, the costs of treatment, the score of BI index of living scale were respectively (8.8 ±2.3) d, (10 980.6 ±966.3)yuan and (84.6 ±9.4) in the intervention group, and were better than (12.4 ±3.0)d, (14 315.3 ±1 537.3) yuan and (68.9 ±7.3) in the control group, and the differences were statistically significant (t =4.682, 9.473, 6.741, respectively;P <0.05).The incidence rate of complication in the intervention group was 10.5% including 2 cases of postoperative fever and 2 cases of postoperative pain , and was better than 31.6% including 4 cases of severe bleeding , 6 cases of postoperative fever , and 2 cases of postoperative pain in the control group , and the difference was statistically significant (χ2 =5.067, P<0.05). The patients’ satisfaction was 94.7%in the intervention group, and was high than 78.9%in the control group, and the difference was statistically significant (χ2 =4.145,P<0.05).Conclusions FTS nursing intervention adopted in KS patients with PCNL during perioperative period can effectively reduce the incidence of complications , and be accepted by the patients , and which is worthy of further promotion in clinical practice .

Objective To find out the efficacy of postoperative care of patients with non-muscle invasive bladder transitional cell carcinoma and to provide effective interventions for the treatment and rehabilitation of patients after surgery .Methods 109 patients with non-muscle invasive bladder transitional cell carcinoma were randomly divided into the observation group (59 cases) and the control group (50 cases).The control group was cared with the measures included postoperative general nursing intervention , bladder irrigation, intravesical chemotherapy , postoperative complication nursing .Based on these nursing interventions , the observation group was treated with integrated care measures .Patients’ quality of life, mental state and depression were assessed by the Short Form 36 ( SF-36 ) , Self-rating Anxiety Scale ( SAS ) and Self-rating Depression Scale ( SDS), respectively.Nursing satisfaction was investigated by self-made questionnaire. Results Two groups of patients were successfully operated .The postoperative follow-up period was ( 26 .1 ±7.8) months.Recurrence rate of the observation group and the control group were 20.3%(12/59) and 18.0%(9/50), respectively, showed no significant difference (χ2 =1.237,P>0.05).Postoperative incidence of adverse events of observation group and the control group were 25.4% (15/59) and 30.0% (15/50), respectively, showed no significant difference (χ2 =2.301,P>0.05).The SF-36 scores of TH, RP, MH, VT, RE, SF for the observation group were significantly higher ( t =4.596,5.028,5.137,5.918,7.009, 6.402, respectively;P<0.05) than those in the control group .After integrated care measures , the SDS and SAS scores of both groups were significantly lower than before (t=5.891,4.013, respectively;P<0.05).And the SDS and SAS scores in the observation group were significantly lower than those in the control group ( t=3.815,4.202, respectively;P<0.05).Satisfaction with nursing for the observation group was 93.2%(55/59) and 72.0% (36/50) for the control group.There was a significant difference (U =4.716,P <0.05). Conclusions Integrated care measures can effectively improve the quality of life , mental status, and nursing satisfaction of patients with non-muscle invasive bladder transitional cell carcinoma after surgery .

The basic mechanical properties of a Radial Shock Wave Therapy Equipment (RSWTE) were experimental y studied in this paper. The output energy of the RSWTE working on the operation frequency of 10 Hz was measured by dynamic pressure transducer under the conditions of different operation pressure. The results showed that both operation pressure and operation frequency have effects on the output energy of the equipment. The output energy increases with the increase of operation pressure, and the magnitude of increased energy decreases with higher operation of frequency. With the increase of operation frequency, the output energy rises up in condition of lower operation pressure and drops off in condition of higher operation pressure. The accurate medical treatment should be selected with the optimized energy and condition according to the treatment requirement to different il ness in clinical medical applications.

Objective Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Methods Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Tissues from phalanges with lesions were obtained to extract DNA, and Sanger sequencing of AKT1 gene was carried on. The pathogenic mutation was further tested in peripheral blood samples of the patient, his parents and 250 healthy volunteers. Orthopaedic surgery was performed on the affected limbs of the patient. Results The patient was presented with progressive overgrowth of the right extremity, scoliosis, cerebral connective tissue nevus and lower extremity venous. A heterozygous mutation of AKT1 gene (c. 49G>A) was identified in DNA extracted from the affected bone tissue of the patient, but not be found in genomic DNA of peripheral blood samples from the patient, his parents and 250 healthy volunteers. Movement function of the affected limb improved significantly after the operations. Conclusions The prominent features of Proteus syndrome are overgrowth of one extremity and cerebral connective tissue nevus. A mosaic somatic mutation of AKT1 gene is one of the pathogenic mutations for Proteus syndrome, and orthopedic surgery may be a good way to improve symptoms of the disease.

Objective:To evaluate the clinical value of prenatal molecular diagnostic technology in preventing hereditary diseases through analysis of prenatal diagnostic characteristics in 22 monogenic skeletal disorders pedigrees.Methods:This study retrospectively analyzed prenatal molecular diagnostic results of 22 pedigrees with monogenic skeletal disorders who were admitted to Department of Osteoporosis and Bone Diseases in our hospital from January 2014 to July 2021.Results:Among 22 pedigrees, there were 10 pedigrees with X-linked hypophosphatemic rickets due to PHEX gene mutations, in which 8 fetuses were found to carry pathogenic variants; 6 pedigrees with osteopetrosis, including 3 cases of CLCN7 gene mutation, 2 TCIRG1 gene mutation, and 1 CTSK gene mutation, were detected to have 2 affected fetuses and 1 carrier. There were 4 cases of osteogenesis imperfecta, including 2 cases of COL1A1 gene mutation, 1 case of COL1A2 gene mutation, and 1 case of SERPINF1 gene mutation, in which 1 affected fetus and 1 carrier were found; only one case of osteoarthritis with mild chondrodysplasia caused by COL2A1 gene mutation was found to harbor pathogenic variant in fetus; 1 case of hypophosphatasia due to ALPL gene mutation was not detected to carry pathogenic variant in fetus. By the time of follow-up, all 12 affected fetuses were terminated, and the remaining 10 fetuses except for one case still in pregnancy were born in good condition.Conclusion:Prenatal molecular diagnosis may confirm whether the fetus carries pathogenic variants at the first and second trimesters. For monogenic skeletal disorders that comply with Mendel′s law of separation, prenatal diagnosis can be determined by calculating the probability of recurrence of offspring. In addition, for families with de novo mutations in the offspring, it is necessary to pay attention to whether there are mosaic mutations in the parents.