Objective:To explore the curative efficacy and safety of microwave ablation(MWA)combined with percutaneous ethanol injection(PEI)in treating thyroid cystic solid nodule.Methods:A total of 62 patients with thyroid cystic solid nodule,who admitted to The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University from January 2021 to December 2022,were selected,and they were divided into microwave group(n=28,only single MWA)and combination group(n=34,MWA combined with PEI)according to different treatment plans.The reduction rate of the volume of thyroid nodules,indicators of thyroid function,clinical symptom and the score of physical signs,as well as the incidence of perioperative complications,were compared between two groups after treatment.Results:After treatment,the reduction rate of the volume of thyroid nodule was(88.97±6.36)%in the combination group,which was higher than that(88.15±5.69)%in the microwave group,and the differences in those indicators between the two groups were statistically significant(t=2.465,P＜0.05).The differences of the indicators of thyroid function before and after treatment between two groups were not significant(P＞0.05).The clinical symptoms and the scores of physical signs of both groups after treatment were lower than that before treatment(P＞0.05).The incidence of perioperative complications in the combination group was 17.65%,which was lower than 42.68%in the microwave group(P＜0.05),and the difference of that between the two groups was significant(x2=4.736,P＜0.05).Conclusion:The curative efficacy of the combination of MWA and PEI is better than MWA alone,which has better safety.

Objective:To explore the curative efficacy and safety of microwave ablation(MWA)combined with percutaneous ethanol injection(PEI)in treating thyroid cystic solid nodule.Methods:A total of 62 patients with thyroid cystic solid nodule,who admitted to The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University from January 2021 to December 2022,were selected,and they were divided into microwave group(n=28,only single MWA)and combination group(n=34,MWA combined with PEI)according to different treatment plans.The reduction rate of the volume of thyroid nodules,indicators of thyroid function,clinical symptom and the score of physical signs,as well as the incidence of perioperative complications,were compared between two groups after treatment.Results:After treatment,the reduction rate of the volume of thyroid nodule was(88.97±6.36)%in the combination group,which was higher than that(88.15±5.69)%in the microwave group,and the differences in those indicators between the two groups were statistically significant(t=2.465,P＜0.05).The differences of the indicators of thyroid function before and after treatment between two groups were not significant(P＞0.05).The clinical symptoms and the scores of physical signs of both groups after treatment were lower than that before treatment(P＞0.05).The incidence of perioperative complications in the combination group was 17.65%,which was lower than 42.68%in the microwave group(P＜0.05),and the difference of that between the two groups was significant(x2=4.736,P＜0.05).Conclusion:The curative efficacy of the combination of MWA and PEI is better than MWA alone,which has better safety.

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.

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 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.

Objective::This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods::In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results::The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism. Conclusion::This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.

Objective::This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis.Methods::In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype.Results::The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism. Conclusion::This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.

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.

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 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.