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 correlation between brainstem auditory evoked potential (BAEP) combined with mesencephalic morphology and the prognosis of coma patients with severe craniocerebral injury.Methods Forty-seven coma patients with severe craniocerebral injury were examined with BAEP and moaitored dynamically in early period of coma,and all these patients got head CT scans and the ratio of anteroposterior diameter and transverse diameter of mesencephalon were measured at the same time.Results There was a significantly negative relationship between the first BAEP classification and GOS score at the end of the follow-up (r =-0.755,P =0.000 ).Among all of the patients,there were 27 patients with the ratio of anteroposterior diameter and tansverse diameter of mesencephalon from 0.9 to 1.1,19 patients (70.4％,19/27) with good prognosis;20 patients with the ratio ＞1.1 or ＜ 0.9,6 patients (30.0％,6/20 ) with good prognosis.The rate of good prognosis between the two had significant difference ( x2 =7.521,P =0.006).The sensitivity and specificity were 73.7％(14/19),82.6％ (19/23) at the first BAEP combined with mesencephalic morphology,88.2％ (15/17),100.0％ (21/21) at the second BAEP combined with mesencephalic morphology.Conclusion BAEP combined with mesencephalic morphology can evaluate effectively the prognosis of coma patients with severe craniocerebral injury.

Objective:To observe the effects of virtual reality (VR) technology combined with scenario-based simulation training in obstetrics and gynecology internship teaching.Methods:Ninety-eight medical students interned in the department of obstetrics and gynecology from June 2021 to May 2022 were included. Among them, 49 students received conventional clinical internship teaching of obstetrics and gynecology in the control group, while the other 49 students received scenario-based simulation training with VR technology in the observation group. The two groups were compared in terms of test scores, learning ability assessed by the Self-Rating Scale of Self-Directed Learning, post competency, and the degree of satisfaction with teaching quality. The data were analyzed through the chi-squared test and t test with the use of SPSS 20.00. Results:The observation group had significantly higher scores than the control group in theoretical knowledge [(35.51±2.21) vs. (32.17±3.22)], case analysis[ (16.52±1.51) vs. (13.37±2.03)], and practical operation skills (all P<0.05). After teaching, the learning ability and post competency were significantly improved in both groups (both P<0.05), which were significantly better in the observation group than in the control group (both P<0.05). The degree of satisfaction with teaching of the observation group was significantly higher than that of the control group ( P<0.05). Conclusion:VR technology combined with scenario-based simulation training can help improve teaching quality and enhance medical students' learning ability and post competency, with a high degree of satisfaction with teaching quality, which is worth promotion and application.

Objective To investigate the potential clinical prognostic factors of severe traumatic brain injury.Methods Two hundred and thirteen severe traumatic brain injury patients,admitted to our hospital from May 2013 to July 2015,were chosen in our study.Their clinical data were retrospectively analyzed;prognostic factors,including age,gender,mGCS scores (movement GCS scores),improved CT scores,brain hernia,volume of intracranial hematoma,range of cerebral contusion and laceration,and location of intracranial hematoma,were estimated using Chi square test,and after the Chi square test,the factors enjoying statistical significance were analyzed by COX proportional hazards regression model.Results The mortality rate was 15.9％ (34/213).Death occurred within 30 days of admission,and death mostly occurred within 10 days of admission (1-10 d:23 patients;11-20 d:9 patients;20-30 d:2 patients).Cox proportional hazards regression analysis indicated that age,GCS scores (movement GCS scores),improved CT scores,and brain hernia were the prognostic risk factors in patients with severe traumatic brain injury,while gender,volume of intracranial hematoma,range of cerebral contusion and laceration,and location of intracranial hematoma were not.Conclusion Age,mGCS scores (movement GCS scores),improved CT scores,and brain hernia dare important factors affecting the prognosis of patients with severe traumatic brain injury.

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.

Humans ; East Asian People ; Genetic Profile ; Mutation ; Osteochondrodysplasias/genetics*