Prenatal diagnosis of monogenic skeletal disorders in 22 pedigrees / 中华内分泌代谢杂志

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.

A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene / 中华内科杂志

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.

Adult hypophosphatasia caused by ALPL mutation: one pedigree study / 中华内分泌代谢杂志

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.

Research in application of adult education theory in nursing round / 中国实用护理杂志

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.