In order to verify that bypass-activated complement can enable polymorphonuclear neutrophils (PMN) to lose their bactericidal capacity,3 experiments were performed as follows:(DA monolayer culture of human PMN was added with zymosan-activated human serum (ZAHS).then the superoxide ion (O2-,the specific granules,and the intracellular bactericidal activity of the cultured PMNs were signigicantly decreased and reached the lowest point in the 6th hour after the adding of ZAHS.0.05 ml of ZAHS showed the maximal effects on the PMNs.(2)Mice were injected intravenously with 0.5 ml of ZAHS and were killed 6 hours later.All the 3 parameters mentioned above dropped markedly in the PMNs isolated from the blood and the lungs of the mice.Pathologically,the lungs of the rats showed acute interstitial inflammation,focal edema,hemorrhage and atelectasis.and subcellular damages on the pulmonary blood-barrier.(3)ZAHS,after neutralization in vitro with antiserum against human C3 and C5,lost most of its harmful effects mentioned above.The findings suggest that the harmful effects of ZAHS originate from the fragments of C3 and Cs and they are most effective when its dosage is suitable and there must be a sufficient length of time to react before the phagocytosis of PMNs.The possible mechanism of the origination of the harmful effects of ZAHS is as follows:Before PMNs undertake phagocytosis,they releas the bactericidal and inflamnagenic (O2-and specific granules extra-cellularly.So the intracellular bactericidal activity of PMNs is decreased.The accumulation of PMNs in the pulmonary tissues can damage the PMNs themselves and the adjacent pulmonary blood-barrier,which will leads to the occurrence of infection and multiple organ failure.

Objective:To study the pathological changes of nasopharyngeal carcinoma cases after the treat-ment of stereotactic radiosurgery. Method: 15 cases with recurrent or residual squamous cell carcinoma of na-sopharynx diagnosed as T1～4 N0M0 were selected,which had undergone previous radiotherapy. The patients weretreated by Gamma Knife while the isodose curve was 50％00 and the margin dose was 20 Gy. The nasopharynxbiopsy was performed before the treatment and 1,3,6,12 months after the treatment. The biopsy specimen wastaken to make a pathological examination. Result:①Before the Gamma Knife treatment, carcinoma cell could beseen in the tissue;②1～3 months after the treatment, cell necrosis and acute inflammation cell infiltration couldbe seen in the target ;③6～12 months after the treatment ,infiltration of chronic inflammation cell ,proliferation offibrous tissue and capillary could be found in the target. Conclusion:This research implies that the short-termpathological changes after the treatment of stereotactic radiosurgery can be defined as two phases ..The first phaseoccurs from 1 to 3 months after the treatment called necrosis period. The second phase occurs from 6 to 12months after the Gamma Knife treatment named as absorption period.

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Objective:To investigate the clinical characteristics,treatment and prognosis of primary pe-noscrotal extra-mammary Paget’s disease (PSPD).Methods:The clinical and pathological data of 22 cases of primary PSPD were retrospectively reviewed.Survival rate of the overall patients,the invasive patients,and the patients with positive surgical margin or negative surgical margin were analyzed with Ka-plan-Meier survival curve method.Results:Among all the patients with primary PSPD,the median age of onset was 64.5 (39 -84)years,the median time of disease duration was 40 (2 -300)months,and the median long diameter of lesion was 4.75 (1 -10)cm.In the study,12 patients (54.5%)were in pathological stage A1,6 patients (27.3%)were in pathological stage A2,and 4 patients (18.2%) were in pathological stage B.Scrotum and penile of most patients (n =12,54.5%)were involved,5 patients (22.7%)were scrotum only,and 5 patients (22.7%)were penile only.Erythema (n =18, 81.8%),itchiness (n =16,72.7%),ulcerate (n =12,54.5%),exudation (n =11,50.0%),and pain (n =4,18.2%)were the major manifestations.All the patients with primary PSPD were treated with wide surgical excision.The rate of invasive patients was 77.3% (n =17).Of them,6 patients had positive surgical margin.The surgical margins of non-invasive patients were all negative.Twelve patients exhibited local recurrence or/and metastases,and the status of surgical margins (P =0.015)and the depth of invasion (P =0.010)were important risk factors.Inguinal lymph nodes were generally in-volved.The difference of the delay of diagnosis between metastasis and non-metastasis was significant (P =0.040).The 5-year survival rates of the overall and invasive patients were 33.7% and 27.9%, respectively.The patients with positive surgical margin had poor prognosis.Conclusion:Primary PSPD, with the characteristics of long duration,high invasive tendency and high incidence of local recurrence or metastases,generally occurs in the elderly.Surgery should be performed at first.The delay of diagnosis, positive surgical margins and the involvement of inguinal lymph node are important risk factors.Biopsy, frozen section and inguinal lymph node biopsy (ILNB)can standardize diagnosis and treatment.

Objective To observe the effect of pre-intervention with electroacupuncture at Neiguan (PC 6) plusα2-adrenoceptor (α2AR) agonist on peri-operative heart rate variability (HRV).Method A total of 120 patients going to receive lower limb orthopedic surgery were randomized into four groups by using the random number table, namely a control group (group A), an electroacupuncture group (group C), anα2AR agonist group (group D) and an electroacupuncture plus medication group (group N), 30 cases in each group. The indicators of heart rate variability (HRV), including the standard deviation of normal-to-normal (N-N) intervals (SDNN), standard deviation of the average of N-N intervals (SDANN), root mean square successive differences (rMSSD), percentage of adjacent N-N intervals>50 ms apart (pNN50), low-frequency power (LF), high-frequency power (HF), LF/HF and total power (TP) were recorded 1 d prior and 1 d after the operation; meanwhile, the mean arterial pressure (MAP) and heart rate (HR) were recorded before incubation (T0), right after incubation (T1), 5 min after incubation (T2), right afterextubation (T3), 5 min after extubation (T4), 60 min after extubation (T5), and 180 after extubation (T6).Result In group N, the HR and MAP at the other time points were insignificantly different from those at T0 (P>0.05); in group A, the HR and MAP at T1-T6 were significantly different from those at T0 (P<0.05); in group C and D, the HR and MAP at T1-T4 were significantly different from those at T0 (P<0.05); the HR and MAP in group N were significantly lower than those in group A at T1-T6 (P<0.05) and were significantly lower than those in group C and D at T1-T4 (P<0.05); the HR and MAP in group C and D were significantly lower than those in group A at T5 and T6 (P<0.05). In group A, the LF, HF, LF/HF and TP 1 d after the operation were significantly increased compared to those 1 d prior to the operation (P<0.05); in group A and D, the SDNN, SDANN, rMSSD, and pNN501 d after the operation were significantly lower than those 1 d prior to the operation (P<0.05); the LF, HF, LF/HF, and TP in group C, D and N were significantly lower than those in group A 1 d after the operation (P<0.05); the SDNN, SDANN, rMSSD, and pNN50 in group C and N were significantly higher than those in group A and D 1 d after the operation (P<0.05). Conclusion Pre-intervention electroacupuncture plusα2AR agonist can improve the balance of cardiac sympathetic and vagus nerves, and better maintain the peri-operative hemodynamic stability.

Objective:To enhance the early recognition of Prader-Willi syndrome by summarizing the clinical characteristics of Prader-Willi syndrome (PWS) during perinatal period.Methods:Through a nationwide cross-sectional study in the Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,226 children diagnosed as PWS by molecular genetics were recruited from September 2019 to March 2020. Clinical data including fetuses Age, birth weight, fetal movement, fetal position, amniotic fluid, mode of bith, crying, muscle tension, feeding, and cryptorchidism were collected to analyze the clinical characteristics of Chinese PWS patients in the perinatal period, and according to the mode of birty, birth weight and genotypes to perform subgroup analysis. The clinical manifestations of different subtypes were statistically analyzed by t test, χ 2 test or Mann-Whitney U test. Results:Among the 226 PWS patients, 120 were males, and 106 were females. Among them, 100 (44.2%) patients were small for gestational age. Decreased fetal movement was the most common manifestation 202 cases (89.4%) during pregnancy, and other manifestations included polyhydramnios 71 cases (31.4%) and abnormal fetal position 58 cases (25.7%). One hundred and eighty-five (81.9%) patients were delivered by cesarean section and the frequency of abnormal fetal position was significantly higher (30.8%(57/185) vs. 2.4%(1/41),χ2=14.161, P<0.01). As for abnormal manifestations after birth included hypotonia 221 cases (97.8%),220 cases (97.3%) showing weak crying, 116 cases among the total 120 males patients (96.7%) wanifested with cryptordnildism and 206 feeding difficulties (91.2%). In terms of genetic subtype, most of them (184/226, 81.4%) had a paternal deletion, while maternal age (35±5 vs. 29±5, t=-6.591, P<0.01) and the frequency of polyhydramnios (47.6% (20/42) vs. 27.7% (51/185), χ2=6.286, P=0.012) were significantly higher in the non-deletion group. Conclusions:The main manifestations of PWS patients during the perinatal period are hypotonia, weak crying, feeding difficulties, decreased fetal movement, cryptorchidism and those patients are more likely to be born by cesarean section. In newborns with these characteristics, pediatricians should be aware of the possibility of PWS. In terms of the relationship between genotypes and phenotypes, polyhydramnios is more frequently observed in the non-deletion group.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.