Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.@*METHODS@#The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.@*CONCLUSION@#The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.

Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS).@*METHODS@#For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes.@*RESULTS@#The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls.@*CONCLUSION@#The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.

Application of digital technique to assist in the reconstruction of thumb and fingers defect / 中华显微外科杂志

Objective To investigate the clinical significance of the reconstruction surgery using the toes to repair thumb and fingers defect with the help of the digital technology. Methods Between June, 2012 and May, 2017, 17 partial thumb and finger defects in 12 cases received 3D-CTA assisted finger reconstruction surgeries in us-ing the toe. Preoperative ipsilateral foot 3D-CTA were conducted and the 3D digital models were analyzed. It helped to know the parameters of the move direction and classification of the arteries and veins, etc.It was helpful for design-ing personalized surgical scheme that could match with the length of each finger defect and the defect area and shape in the recipient site of the specific case. Results All 17 toe-to-hand transplants in 12 cases survived. With 6-12 month's followed-up, the appearance of the reconstructed fingers was very closed to the normal fingers. The two-point discrimination was 6-10 mm. According to the upper extremity functional evaluation criteria issued by the Hand Surgery Society of the Chinese Medical Association, the results were rated as excellent in 9 digits, good in 6 digits, fair in 1 digit and poor in l digit. Conclusion The digital technology can help to formulate the operation scheme of personalized and accurate reconstruction of thumb and fingers before the operation.It was helpful to reduce the opera-tion risk and improve the survival rate of fingers reconstruction.It has very good practical and clinical significance.

Repairment of skin defects of penetrating palm wound by application of free string-type dorsalis pedis flap and anterior malleolus flap / 中华显微外科杂志

Objective To investigate the clinical outcome of the feasible method of the free string type dor salis pedis flap and anterior malleolus flap in the repairement of skin defects caused by penetrating wound of palm.Methods From May,2011 to January,2017,the anterior combined ankle flap of the ankle were used to repair skin defects of 16 cases who sutained penetrating wounds of palm.Results All 32 flaps in the 16 cases survived.Follow-up were done from 2 months to 2 years after operation.Bone healing was achieved in all cases.Two-point discrimination recovered to 6-8mm.Total active range of motion of the fingers reached 75 ％ of the normal side.Both appearance and texture of the flaps were good.Both the appearances of the repaired palms and the functional recovery were satisfactory.The function assessment of the hand was excellent in 8 cases,good in 5 cases,fine in 2 cases and poor in 1 case.The eligible rate was 81.25 ％.Conclusion The anatomy of the dorsalis pedis flap and anterior malleolus flap is rare variant,which facilitate the dissection of the flaps during operation.The repairement of skin defects at two sides,both the palm and the back of hand,can be achieved via one operation.Therefore,the free string type dorsalis pedis flap and anterior malleolus flaps offer an ideal procedure to repair skin defects secondary to penetrating wound of palm.

Relationship among job stressors, sleep quality and psychological health of nurses / 中华行为医学与脑科学杂志

Objective To explore the relationship among job stressors,sleep quality and psychological health of nurses.Methods 708 female nurses in a 3-A-grade general hospitals of Guangxi were chosen and asked to fill out the Nurse Job Stressors Questionnaire-Revised (NJSQ-R),Pittsburgh Sleep Quality Index (PSQI) and Symptom Checklist 90 (SCL-90).Results ① The total mean score of NJSQ-R (1.50± 0.62) and the five job stressors,including the job environment and characters (1.60±0.65),personal relation ship(1.21±0.73),the attitude of patient and their relatives(1.63±0.74),professional skill(1.38±0.71) and social status and career development(1.97±0.72) were positively related with the total mean score of SCL-90 (1.64±0.69) (r=0.32-0.50,P＜0.01)and the total score of PSQI(8.11±3.52) (r=0.28-0.35,P＜0.01).There was a positive relationship between SCL-90 and PSQI(r=0.46,P＜0.01)).② SCL-90(β=0.387,P＜ 0.01)and the job stressor of the social status and career development(β=0.120,P＜0.05)were directly sig nificantly associated with PSQI.The job stressor of job environment and characters(β=0.235,P＜0.01) and professional skill(β=0.117,P＜0.05)were indirectly associated with PSQI mediated by SCL-90.③ PSQI was directly significantly associated with SCL-90(β=0.344,＜0.01).The job stressor of the social status and career development was indirectly significantly associated with SCL-90 mediated by PSQI(β=0.113,P＜0.05).And the job stressor of job environment and characters was directly (β=0.172,P＜0.01)and indirectly (β=0.184,P＜0.01) associated with PSQI mediated by SCL-90.Conclusion The higher the job stress,the more the mental health problem,and the poor the sleep quality among nurses.Job stressors have direct or in direct influence on psychological health and sleep quality,depending on the nature of job stressors.In addition,the result suggests that a bidirectional relationship exists between sleep quality and psychological health.

Clinical observation of docetaxel combined with carboplatin as second -or third -line treatment for patients ;with advanced triple -negative breast cancer / 中国基层医药

Objective To observe the clinical efficacy and adverse reactions of docetaxel and carboplatin 21 day regimen (TC)as second -or third -line in treatment of patients with advanced triple -negative breast cancer (ATNBC).Methods 37 ATNBC patients with anthracyclines resistance were given docetaxel 70mg/m2 ,the first day of intravenous drip,carboplatin AUC =5,through intravenous drip on the first day,21 days for a course of treatment, until disease progression or not tolerated or most received six cycles of chemotherapy.Results 147 cycles of chemo-therapy were completed in 37 patients,and the median chemotherapy cycle was 4 cycles.The efficacy and adverse reactions could be evaluated in all patients.Among them,complete remission (CR)in 0 patient,partial remission (PR)in 12 patients (32.43%),stable (SD)in 11 patients (29.73%),and progression (PD)in 14 patients (41.18%).The effective rate(CR +PR)was 32.43%.The disease control rate (CR +PR +SD)was 62.15%,median TTP was 3.9 months (95%CI:4 -8months),and median OS was 10 months.Until the end of follow -up,there were 3 patients with no progress.The main adverse reactions were hematological toxicity (51.53%)and gastrointestinal reaction (56.76%).Conclusion TC regimen is effective and safe in the treatment of patients with ATNBC.

Effect of Duanteng Yimu Decoction on Bone Metabolism Markers of Adjuvant- induced Arthritis Rats / 广州中医药大学学报

Objective To observe the effect of Duanteng Yimu decoction (DYD) on bone turnover markers of C-terminal telopeptide of type Ⅰ collagen (CTX-Ⅰ) and N-terminal propeptide of type Ⅰ procollagen ( PⅠNP) of adjuvant-induced arthritis (AA) rats. Methods Seventy-two SD rats were divided into 9 groups, and complete Freund's adjuvant was injected into the rats to establish adjuvant-induced arthritis rat model. After medication for 36 days, the pedal swelling, the serum levels of CTX-Ⅰand PⅠNP, and ankle X-ray photographic scores were observed. Results The pedal swelling degrees and ankle X-ray scores in medication groups were lower than those in the model group ( P0.05). The CTX-Ⅰlevel in low-dose DYD group was decreased (P<0.05). Conclusion Caulis Celastri has two-way effects on CTX-Ⅰlevel of female AA rats, and its side effects can be reduced by Radix Dipsaci and Herba Leonuri, but their antagonism effect will disappear with the increase of the dose of Caulis Celastri.

The application of two parenteral nutrition methods in preterm infants / 中国小儿急救医学

Objective To investigate the therapeutic effects of two parenteral nutrition (PN)methods in preterm infants. Methods Forty-two preterm infants who could not tolerate full enteral feeding were randomly divided into two groups. Twenty-two cases of the experimental group started to receive amino acids (AA) by 1.0 g/(kg·d) within 24 h after birth. Then AA was increased by 1.0 g/(kg·d)each day to maximum of 3.0 g/(kg·d)The dose and add method of intralipid was given alike AA within 48 h. Complete PN was achieved 5 d after birth. Twenty cases of the control group started to receive AA by 0. 5 g/(kg·d) ,and then increased by 0. 5 g/(kg·d) each day to maximum of 3.0 g/(kg ·d). The dose and add method of intralipid was given alike AA after 72 h. Complete PN was achieved at 8 or 9 d after birth. The feeding results was observed,the blood biochemistry was monitored at 72 h and 10 d after birth,and the incidence of complication was recorded. Results In comparison with the control group, time returning to birth weight, the weight loss rate, PN time and time returning to full enteral feeding were shorter in the experimental group (P ＜0. 01). There were no significant differences in the blood glucose,total bilirubin, urea nitrogen,carbon dioxide combining power,total cholesterol and the incidence of complication between the two groups (P ＞ 0. 05). Conclusion Quantity sufficient and early parenteral nutrition can be tolerated by preterm infants within 24 h after birth.

Apoptosis of retinal capillary cells and expression of p53 in rats with spontaneous hypertension after ischemic reperfusion injury / 中华眼底病杂志

Objective To investigate the effect of apoptosis-related gene p53 on the apoptosis of retinal capillary cells in rats with spontaneously hypertensive (SHR) after ischemic reperfusion injury. Methods A total of 60 SHR rats were randomly divided into sham group (SHR-SH) and retinal ischemie reperfusion group (SHR-RIR), which were subdivided into 5 subgroups according to the time after RIR: 2, 6, 24, and 72 hours and 7 days, with 6 rats in each subgroup. Another 60 Wistar-Kyoto (WKY) rats were divided into the same groups as the SHR rats as the control. The RIR model was set up. The apoptosis of retinal capillary cells was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) methods and the expression of p53 was determined by streptavidin-perosidase (SP) immunohistochemistry. Results The apoptosis rate of retinal capillary cells in the 5 SHR-RIR groups was (8.64±0.56)%, (14.92±0.99)%, (24.72±2.98)%, (16.53±1.80)%, and (7.12±1.10)%,respectively. The expression of p53 in SHR-RIR groups increased at the 2nd hour after RIR, reached the peak at the 24th hour, kept the high level at the 72nd hour, and remained a little at the 7th day, which was significantly different from which in the SHR-SH groups (P<0. 01). The expression of p53 were higher in SHR-IR groups than that in the WKY-RIR groups (P<0. 01). Conclusions p53 may play a part in RIR injury by inducing or promoting apoptosis. The apoptosis of retinal capillary cells after RIR is more severe under the hypertension, and reaches the peak at the 24 hour after RIR.