[Integrated management and prognosis analysis of fetus with complete transposition of the great arteries during pregnancy and perinatal period].

Objective: To investigate the prenatal diagnosis, integrated management and prognosis of fetal complete transposition of the great arteries (D-TGA) detected by ultrasonography. Methods: The prenatal diagnosis, integrated management and prognosis of 19 D-TGA fetuses found by ultrasound during pregnancy in Peking University People's Hospital from January 2014 to June 2019 were analyzed retrospectively. Results: The incidence of D-TGA was 0.12% (19/16 028) among fetuses diagnosed by ultrasound during 5 years. Among the 19 cases, there were 7 cases (7/19) of D-TGA alone, 7 cases (7/19) of D-TGA combined with ventricular septal defect (VSD), 5 cases (5/19) of D-TGA combined with other cardiac malformations; 2 cases (2/19) of D-TGA combined with extra cardiac malformations, and 1 case (1/19) of fetal growth restriction. Nuchal translucency (NT) thickening was found in 3 cases (3/19) at the first trimester of pregnancy. Among the 19 D-TGA fetuses found by ultrasound examination, 18 (18/19) had chromosome karyotype analysis of fetuses or newborns, and chromosomal abnormalities were found in 2 cases, all of which were terminated in the second trimester of pregnancy. The integrated management and multidisciplinary diagnosis and treatment of D-TGA fetuses during pregnancy and perinatal period were carried out. Nine cases (9/19) had induction in the second trimester of pregnancy, 10 cases (10/19) were delivered at term, and the gestational week of delivery was (38.3±0.7) weeks, among which 6 cases (6/10) were delivered by caesarean section due to obstetric factors, and 4 cases (4/10) were delivered by vaginal birth. The oxygen saturation was (69.2±11.3)% at birth and (77.8±6.7)% when transferred to the department of pediatrics. Except for one case lost to follow-up, the other 9 newborns received operation. The average operation time was (21.8±22.1) days after birth, 8 cases (8/9) completed one operation and 1 case (1/9) performed two operations. All of the 9 cases treated by surgery were followed up well. Conclusions: Prenatal diagnosis, individualized evaluation and integrated management during pregnancy and perinatal period should be carried out for the patients with fetal D-TGA detected by ultrasound. Fetal D-TGA is not an indication of cesarean section. The open of ductus arteriosus can be maintained with drugs when necessary after birth, and a good prognosis could be obtained through surgery.

[Characteristics and prognosis of interrupted inferior vena cava with azygous continuation].

Objective: To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods: Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, ultrasonographic features, genetic information and prognosis were collected. Results: Interrupted of the inferior vena cava with azygous continuation occurred in 21(0.07%, 21/28 567) of 28 567 patients. Three fetuses (14%, 3/21) complicated with heart and extracardiac malformations, including endocardiac cushion defect, single atrium and single ventricle, double superior vena cava, dextrocardia, asplenia syndrome, visceral heterotaxy, duodenal atresia; six fetuses (29%, 6/21) were associated with cardiac anomalies, such as hypoplastic left heart syndrome, double outlet right ventricle, pulmonary stenosis, ventricular septal defect, persistent left superior vena cava, endocardiac cushion defect and transposition of the great arteries; six cases (29%, 6/21) were only combined with extracardiac malformations, includingasplenia syndrome, visceral heterotaxy, duodenal atresia. Three fetuses (14%, 3/21) were nonorganic abnormalities included thickening of the right ventricle wall, fetal bradycardia, pericardial effusion, hydrops abdominis, increased peak systolic velocity/end diastolic velocity and single umbilical artery. Three fetuses (14%, 3/21) were isolated interrupted inferior vena cava with azygous continuation, but without other anomalies and 2 of them had normal fetal karyotype. Five cases (24%, 5/21) were successfully vaginal delivery, 1 case (5%, 1/21) had cesarean section. After 12-40 months follow-up, we didn't obeserve obviously abnormality, nor any chromosomal abnormality. Ten patients (48%, 10/21) opted for termination of the pregnancy and the autopsies were not done. Five cases (24%, 5/21) were lost to follow up. Conclusions: Interrupted inferior vena cava with azygous continuation are associated with cardiovascular and extracardiac anomalies, cardiac malformation and visceral heterotaxy are the most common anomalies. Visceral heterotaxy should be considered and fetal karyotype should be suggested. In the cases of isolated interrupted inferior vena cava with azygous continuation and normal karyotype, the outcome is favorable.

[The prenatal genetic diagnosis of a family with complete androgen insensitivity syndrome].

Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband.The mutation had not been reported before.The mother of the proband went through two times prenatal genetic diagnosis for her next pregnancies, both fetuses were male and did not get the mutation.The results of the linkage analysis were consistent with the sequencing results. Conclusion: A novel AR mutations in a CAIS family have been confirmed. The method of prenatal genetic diagnosis was established, and worked effectively in the CAIS family.

Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH.

Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (<13 weeks). Although many risk factors relate to this occurrence, genetic factors play the most important role. Chromosomal abnormalities, including both numerical and structural anomalies, underlie the majority of miscarriages. In this study, we employed a comprehensive approach using cytogenetic karyotyping, polymerase chain reaction (PCR)-based genotyping, and microarray-based comparative genomic hybridization (arrayCGH) in combination to analyze chromosomal profiles of 115 first-trimester miscarriages of Chinese women. Seventy cases (61%) were found to have chromosomal anomalies, of which 90% were numerical and 10% were structural. Cytogenetic karyotyping identified 78.6% (55/70), PCR assays 2.9% (2 triploids), and arrayCGH 18.6% (13/70) of the anomalies. In this study, a microdeletion of 108 kb and four microduplications sizing from 300 to 1460 kb were observed. An advantage of using this combination approach is that microsatellite genotyping and arrayCGH can be accomplished in spite of culture failure and maternal cell contamination. In addition, arrayCGH can detect submicroscopic chromosomal anomalies and gene dosage alterations.

[Effects of 7 d -6 degrees bed-rest on postural equilibrium].

OBJECTIVE: To quantitatively assess the effects of 7 d -6 degrees head-down bed-rest (HDBR) on postural equilibrium and to investigate the contributions of vestibular, somatosensory and visual informations to postural equilibrium. METHOD: Eight healthy males, aged 33 - 42 years, were exposed to -6 degrees head-down tilt bed rest for 7 d. Sensory Organization Test (SOT) and Motor Coordination Test (MCT) were measured before and after HDBR, and day 4 of recovery. RESULT: Equilibrium scores of SOT in condition 1 (eyes opened, platform and visual scence environment fixed), 5 (eyes closed visual scence environment fixed, platform movable) were significantly lower as compared with pre-HDBR value, and recovered to pre-HDBR level on day 4 of recovery. Postural strategy scores of SOT in condition 1, 2 (eyes closed, platform and visual scence environment fixed) and 3 (eyes opened, platform fixed, visual scence environment movable) were significantly lower as compared with pre-HDBR value, and recovered to pre-HDBR level on day 4 of recovery. The dependence of somatosensory and visual information (ratio pair codition 2/condition 1, condition 3/condition 1 in sensory analysis) was significantly higher as compared with pre-HDBR value, and recovered on day 4 of recovery. Mean SOT alignment scores in conditions 1, 4 (eyes opened, visual scence environment fixed, platform movable) and 6 (eyes opened, platform and visual scence environment movable) were significantly higher as compared with pre-HDBR value, and only the scores of conditions 1, 6 were recovered on day 4 of recovery, but that of condition 4 did not. Mean postural-evoked response latencies of MCT were not significantly different as compared with pre-HDBR value. CONCLUSION: 7 d -6 degrees head-down tilt bed-rest has significant effects on postural equilibrium. The contributions of somatosensory and visual informations to postural equilibrium are increased.

[Changes of dynamic ECG before, during, and after parabolic flight].

Objective. To study the characteristics of pilots' electrocardiogram during parabolic flight. Method. Dynamic electrocardiogram (DCG, CM1 and CM5 bipolar leads) were recorded in 13 pilots before, during and after parabolic flights. Result. Preflight and postflight values of heart rate (HR) and cardiac rhythm were essentially the same in all cases, but HR increased to a higher level of 86.0 +/- 7.3 bpm with maximum of 137.0 +/- 12.2 bpm, and minimum of 57.7 +/- 6.6 bpm during parabolic flights. During flights, one pilot's cardiac rhythm changed slightly and in another pilot T wave became inverted. In other two pilots, ST segments shifted downward more than 0.1 mV transiently. All these pilots showed negative result in maximal exercise on the ground. Conclusion. DCG could be used to evaluate the changes of cardiac electric activity during the whole parabolic flight.

[Effect of 7 d -6 degrees head-down tilt (HDT) on electromyogram of gastrocnemius and anterior tibialis muscles].

Objective. To assess the effect of 7 d -6 degrees HDT on electromyogram of the weightbearing muscles. Method. Eight healthy males, aged 33-42, were exposed to -6 degrees HDT bed-rest for 7 d, electromyogram from the gastrocnemius and anterior tibialis muscles were recorded before and after HDT, and day 4 of recovery. Result. The latency of SLR (short latency response) recorded from lower leg muscles after HDT was not different from that pre-HDT. But the latency of MLR (middle latency response) and LLR (long latency response) after HDT were significantly increased as compared with that pre-HDT, and recovered to pre-HDT level on day 4 of recovery. The durations of SLR recorded from right leg muscles after HDT were significantly longer as compared with that pre-HDT, and did not recover. The integrated amplitude of SLR and MLR after HDT were significantly increased as compared with that pre-HDT, and only the integrated amplitude of SLR recovered, but that of MLR did not. Conclusion. Seven day -6 degrees HDT bed-rest had significant effects on electromyogram of the weightbearing muscles.

Changes in soluble interleukin-2 receptor level in serum and Na+-K+-exchanging ATPase activity in semen of infertile men caused by antisperm antibody.

AIM: To explore the possible mechanisms of male infertility caused by antisperm antibody (AsAb). METHODS: The soluble interleukin-2 receptor (sIL-2R) level in serum was analyzed by ELISA and Na+-K+-exchanging ATPase activity in semen by phosphorus (Pi) assay. RESULTS: The sIL-2R level in serum was significantly higher and the Na+K+-exchanging ATPase activity in semen significantly lower in AsAb positive infertile men when compared with the controls. CONCLUSION: The AsAb titer varies with the sIL-2R level in serum. A decrease in Na+-K+-exchanging ATPase activity in semen may play a role in male infertility caused by AsAb.

[Counteracting effect of hypoxia and Qigong on cardiac rhythm during orthostatic test post simulated weightlessness].

OBJECTIVE: To try to find a new method for countermeasuring the effect of simulated weightlessness. METHODS: The study was carried out in fifteen male healthy subjects, 19-22 years, -6 degrees head-down bed rest (-6 degrees HDBR) for 21 d was used as a weightlessness simulation model. The subjects were divided into three groups: control group (-6 degrees HDBR), hypoxia group (-6 degrees HDBR + inhalation of hypoxic gas mixture two times a day, 20 min each time) and Qigong group (-6 degrees HDBR + Qigong, three times per day, 45 min each time). Orthostatic test (+75 degrees 20 min) was conducted on each subject pre- and post-HDBR. RESULTS: Cardiac rhythm during the orthostatic test was normal pre-HDBR but sinus cardiac arrhythmias were observed in two subjects of the control group and nodal cardiac arrhythmias were observed in two subjects in Qigong group after HDBR. No cardiac arrhythmia was found in hypoxia group. CONCLUSION: Hypoxia is more effective in countermeasuring orthostatic intolerance after weightlessness than Qigong.

[Closed mitral commissurotomy in 158 patients].

A follow-up survey was conducted on 158 patients who had received closed mitral commissurotomy. To improve the therapeutic effect, we strictly selected the patients, performed the operation appropriately, and strengthened postoperative treatments. The results showed that closed mitral commissurotomy is still a simple and effective therapy for the treatment of mitral stenosis.

[Closure of patent ductus arteriosus under extracorporeal circulation through pulmonary arteriotomy].

Twenty-nine patients underwent closure of patent ductus arteriosus (PDA) via pulmonary arteriotomy under low-flow extracorporeal circulation combined with profound hypothermia. No complications from air embolism or hemorrhage were encountered during the operation. The early and late results were satisfactory. This technique was used as a safe method for PDA complicated by severe pulmonary hypertension, infective endocarditis, recurrence of ductal patency and for PDA in adults or coexistence of intracardiac anomaly.