Objective:To explore the clinical phenotype and genetic characteristics of a child with Hypotrichosis 14.Methods:A child who had presented at the Henan Provincial People′s Hospital on May 4, 2020 due to hair thinning was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples were collected from the child and her parents. Genomic DNA was extracted and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 5-year-old female, had presented with thin, soft lanugo-like hair which was easy to fall off. The child was found to harbor compound heterozygous missense variants of the LSS gene, namely c. 1609G>A (p.V537M) in exon 17 and c. 802T>G (p.F268V) in exon 8, which were respectively inherited from her father and mother. Both variant sites were highly conserved, though based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as variants of unknown significance (PM2_Supporting+ PP3+ PP4). Conclusion:The c. 1609G>A (p.V537M) and c. 802T>G (p.F268V) compound heterozygous variants of the LSS gene probably underlay the clinical phenotype in this patient.

There is an upward trend in the incidence of infertility, while its pathogenesis is very complex, including endocrine disorders and autoimmune diseases and so on. With the development of reproductive immunology, infertility caused by immune factors has attracted more attention. Various reproductive immune antibodies have been found in infertility patients. The role and prevalence of related autoantibodies in the pathogenesis of infertility vary from each other, thus their detection is of great significance for early diagnosing, treating and monitoring infertility patients.

Objective:To analyze the changes in the number and workload of pediatricians, for evidences in further optimizing the allocation of pediatrician resources and formulating relevant policies in China.Methods:According to data from the National Bureau of Statistics and the " China Health and Health Statistics Yearbook", descriptive analysis was made to investigate the changes in the number and workload of pediatricians in China from 2010 to 2019.Results:During 2010 and 2019, the number of pediatric practitioners(assistants) increased from 115 800 to 158 500, and the growth rate was faster than that of the children aged 0-14 years, but slower than that of overall medical practitioners(assistants). The number of pediatric practitioners(assistants) per thousand children in China had grown steadily from 0.52 to 0.67, compared with the burden and the workload of medical practitioners nationwide, the workload of pediatricians was still relatively heavy.Conclusions:The number of pediatricians had increased gradually between 2010 and 2019, and the effects of various policies began to work, while the workload was still heavy. It is recommended to further develop a salary system and supporting policies in line with the characteristics of pediatrics sector, and focus on such problems as unbalanced and inadequate distribution of pediatricians.

Objective: To evaluate the outcomes of myelodysplastic syndromes (MDS) patients who received HLA-matched sibling donor allogeneic peripheral blood stem cell transplantation (MSD-PBSCT) . Methods: The clinical data of 138 MDS patients received MSD-PBSCT from Sep. 2005 to Dec. 2017 were retrospectively analyzed, and the overall survival (OS) rate, disease-free survival (DFS) rate, relapse rate (RR) , non-relapse mortality (NRM) rate and the related risk factors were explored. Results: ①After a median follow-up of 1 050 (range 4 to 4 988) days, the 3-year OS and DFS rates were (66.6±4.1) % and (63.3±4.1) %, respectively. The 3-year cumulative incidence of RR and NRM rates were (13.9±0.1) % and (22.2±0.1) %, respectively. ②Univariate analysis showed that patients with grade Ⅲ-Ⅳ acute graft-versus-host disease (aGVHD) or hematopoietic cell transplantation comorbidity index (HCT-CI) ≥2 points or patients in very high-risk group of the Revised International Prognostic Scoring System (IPSS-R) had significantly decreased OS[ (42.9±13.2) %vs (72.9±4.2) %, χ²=8.620, P=0.003; (53.3±7.6) %vs (72.6±4.7) %, χ²=6.681, P=0.010; (53.8±6.8) %vs (76.6±6.2) %vs (73.3±7.7) %, χ²=6.337, P=0.042]. For MDS patients with excess blasts-2 (MDS-EB2) and acute myeloid leukemia patients derived from MDS (MDS-AML) , pre-transplant chemotherapy or hypomethylating agents (HMA) therapy could not improve the OS rate[ (60.4±7.8) %vs (59.2±9.6) %, χ²=0.042, P=0.838]. ③Multivariate analysis indicated that the HCT-CI was an independent risk factor for OS and DFS (P=0.012, HR=2.108, 95%CI 1.174-3.785; P=0.008, HR=2.128, 95%CI 1.219-3.712) . Conclusions HCT-CI was better than the IPSS-R in predicting the outcomes after transplantation. The occurrence of grade Ⅲ-Ⅳ aGVHD is a poor prognostic factor for OS. For patients of MDS-EB2 and MDS-AML, immediate transplantation was recommended instead of receiving pre-transplant chemotherapy or HMA therapy.

Objective: To analyze the maternal and fetal outcomes of pregnancies complicated by aplastic anemia (AA) and to investigate the underlying risk factors. Methods: In this retrospective case control study, we retrieved medical records of 85 singleton gravidas with AA (AA group) who were admitted to Peking University People's Hospital from January 2003 to January 2016, and another 340 singleton gravidas (case∶control=1∶4) without blood system or immune system diseases who gave birth at the same period were selected as the control group. Differences in general condition and the incidence of maternal and neonatal complications were compared between the two groups. AA group were further divided into adverse outcome subgroup (n=33) and non-adverse outcome subgroup (n=52), and relevant factors were also analyzed. Statistical analysis was performed using t-test, Chi-square test and logistic regression. Results: No maternal deaths occurred in all 85 cases of AA group, 81 of them gave live birth [one neonate died and the others survived with a mean gestational age of 36⁺⁵ weeks (30⁺²-40⁺⁵ weeks)], and 45 developed maternal or fetal adverse outcomes. Compared with the control group, AA group had higher incidences of hypertensive disorders of pregnancy [20.0% (17/85) vs 6.2% (21/340)], acute heart failure [7.1% (6/85) vs 0.0% (0/340)], postpartum hemorrhage [5.9% (5/85) vs 0.9% (3/340)], puerperal infection [2.4% (2/85) vs 0.0% (0/340)], preterm birth [22.3% (19/85) vs 5.6% (19/340)], small for gestational age [11.7% (10/85) vs 0.9% (3/340)], fetal growth restriction [8.2% (7/85) vs 1.2% (4/340)], intrauterine fetal death [4.7% (4/85) vs 0.0% (0/340)] and neonatal death [1.2% (1/85) vs 0.0% (0/340)] (all P<0.05). After adjusting for age, pregnancy history and the time of diagnosis, we found that low median (OR=0.88, 95%CI: 0.83-0.95), mean (OR=0.85, 95%CI: 0.79-0.93) and minimal (OR=0.87, 95%CI: 0.82-0.93) values of hemoglobin concentration during pregnancy, and low median (OR=0.96, 95%CI: 0.92-1.00), mean (OR=0.96, 95%CI: 0.92-1.00) and minimal (OR=0.95, 95%CI: 0.90-0.99) values of platelet counts during pregnancy were risk factors for adverse maternal and fetal outcomes of gravidas with AA (all P<0.05). Conclusions Maternal and fetal complications are more common in pregnant women with AA and maintain hemoglobin and platelet counts at a certain level may improve the outcomes.

Objective To summary the pathological and clinical characteristics,treatments and prognosis of malignant renal perivascular epithelioid cell tumor (PEComa).Methods Between August 2013 and June 2017,8 cases of malignant renal PEComa were analysed respectively.Of all the patients,there were 4 males and 4 females,aged 27-65 years with the average of 46.3 years old.Three cases were detected in routine examination occasionally,three cases complained of intermittent back pain with fever,one presented with swollen and painful right hand and right foot,and one case presented with hematuria.CT or MRI examinations indicated the malignant lesions before the surgery.Clinical staging was performed with 2 cases of T1N0M0,1 case of T1 N0M1,2 cases of T2N0M0,1 case of T3M0M0,and 2 cases of T4N0M1.Three cases underwent radical nephrectomy,1 case underwent radical nephrectomy plus renal artery embolization,2 cases underwent partial nephrectomy,and 2 cases underwent nephrectomy plus inferior vena cava tumor thrombectomy.One case was treated with ifosfamide plus epirubicin after operation due to multiple distant metastases and 1 case was treated with oxaliplatin before the sugery because of excessive tumor diameter.None of the rest received any adjuvant therapy.Results Postoperative histopathological examination showed multiple nodules in reddish gray and yellow color,with soft texture and partial incomplete capsule.Microscopically,there were large atypical cell components,some of which were spindle shaped,with disordered cell arrangement,some of which were associated with a large amount of necrotic tissue,and abundant light eosinophil cytoplasm.Tissue components can be found thick-wall blood vessels,smooth muscle-like cells,and adipose tissue.Immunohistochemistry showed 4 cases were positive of HMB-45,4 of Melan-A,7 of SAM.Seven cases were negative of CK,6 of S-100 75％ (6/8) and Ki67 (10％-70％).Two cases died of multiple metastases (lung,bone,liver),1 case survived with tumor recurrence,with a follow-up from 14 to 60 months (mean 29 months).Conclusions Primary malignant renal PEComa is rare in practice with relative large diameter.The diagnosis depends on pathological findings,and radical nephrectomy is the first choice of treatment.It is easy to recur and metastasize after the operation.

Objective To get an understanding of the patient experience in public hospitals nationwide, and to evaluate the implementation of the Action Plan to Improve Health Care. Methods Supported by the mobile technology, from September 6, 2017 to December 15, 2018, the authors conducted an online survey that measured the satisfaction of both inpatients and outpatients at secondary and tertiary hospitals across the country. 15 questions from six dimensions including registration experience, patient-doctor communication, nurse-patient communication, the healthcare signage system, responsiveness of care providers and privacy protection were prepared for outpatients, while 20 questions from nine aspects such as nurse-patient communication, patient-doctor communication, pain management, medication communication, admission and discharge information, responsiveness of care-givers, food service, friendliness to patient family, and the healthcare signage system were directed at inpatients. Descriptive statistical analysis was used to describe the basic features of the data. Results 9.18 million valid responses from outpatients and another 5.38 million from inpatients were obtained. The overall satisfaction rate with outpatient services had reached a score of 90.45 points where nurse-patient communication stands out as the top-rated dimension and privacy protection gets the lowest rating. On the other hand, the inpatient satisfaction stands at a score of 93.01 with friendliness to patient family receiving the top score and patient-doctor communication the lowest. Conclusions Despite the positive feedback Chinese patients give on the outpatient care they receive, we should make efforts to improve the outpatient care environment, the wayfinding system, privacy protection, and responsiveness of care-givers.

Objective: To investigate the effects of donor-specific HLA antibodies(DSA) for graft failure in un-manipulated haploidentical hematopoietic stem cell transplantation(haplo-HSCT) and the feasible treatment for DSA. Methods: HLA antibodies were examined using the Luminex-based single Ag assay for 92 patients who were going on haplo-SCT and the correlations of graft failure and DSA among the patients who had finished SCT were analyzed. Results: Of the total 92 patients who were going on haplo-HSCT, sixteen (17.4%) patients were HLA Ab-positive, including six (6.5%) patients with antibodies corresponding to donor HLA Ags (DSA-positive). Among the patients who had finished the haplo-HSCT with conventional myeloablative conditioning regimen, the engraftment rate was significantly higher in DSA (-) patients than that in DSA (+) patients [92.3% (24/26) vs 25.0%(1/4), χ²=8.433, P=0.004] and DSA was the only factor relevant with graft failure in multiple-factor analysis [OR=12.0(95% CI 1.39-103.5), P=0.024]. Strategies to decrease antibody levels were taken for 4 patients, two were their first transplantations, and the other two patients were their second haplo-HSCT. Three of the four patients were HLA-I-DSA positive and had gained donor engraftment by means of donor platelet transfusions to decreased the level of DSA, the fourth patient with both HLA-I and HLA-II DSA also gained engraftment with the treatments of TBI, rituximab and donor platelet transfusion. Conclusion DSA is one of the key factors of graft failure in haplo-HSCT. Donors should be selected on the basis of an evaluation of HLA antibodies before transplantation. If haplo-HSCT from donors with DSA must be performed, then recipients should be treated for DSA to improve the chances of successful engraftment.

Medical service data center could play a pivotal role in the assessment and improvement of patient safety,assist of medical quality management,providing guidance for patients,promoting the development of biological bank,by collection,storage,maintenance and analysis of medical data.Even though the building of medical service data center in China is relatively late compared with developed countries,however,China has made some achievements in guiding medical service and medical service management.

Objective To analyze the present situation of medical service prices in Beijing,and provide scientific basis in order to carry out the reform of medical service prices of the city.Methods Literature review method to collate the administration policy of medical service price in Beijing,and the method of statistical analysis to compare the Beijing medical service prices with 1 9 other provinces across the country.Results The number of medical service projects (4 613 )in Beijing is higher than the national average (4 507),but the average medical service prices (423 yuan)in Beijing is lower than the national average (609 yuan),and medical service price and the regional economic level has no statistical significance Conclusion Medical service prices of Beijing need to be adjusted,and a reform of medical service prices in Beijing should be implemented by the Development and Reform Commission,Health and Family Planning Commission.