Objective To investigate the drainage volume and nursing method of lifted tube drainage and continuous negative pressure drainage after lower lumbar surgery.Methods A total of 248 consecutive patients undergoing the first or second lumbar spine surgery from January 2008 to July 2013 were prospectively randomly divided into two groups.116 patients in the experimental group (group A) took the lifted tube drainage and 132 patients in the control group (group B) took the normal continuous negative pressure drainage protocol after surgery.The total drainage volume,pre-and post-operative hemoglobin,post-operative temperature,complications and JOA score in the two groups were compared.Results The average drainage volume after single or two segment surgery were (97.0 ± 34.2)ml and (108.5 ± 32.7)ml in group A.The average drainage volume after single or two segment lower lumbar surgery were (393.4 ± 143.5) ml and (448.2 ± 169.6) ml in group B,the difference was statistically significant (t =14.43,17.55,respectively;P ＜ 0.01).There was no significant difference in drainage volume in single or two segment in group A and B (P ＞ 0.05).The post-operative hemoglobin level was (121.7 ± 13.4) and (117.8 ± 12.5) g/L in group A and B respectively,the difference was statistically significant (t =2.38,P ＜ 0.05).Conclusions Based on the findings in this study,lifting the drainage tube to an appropriate height is a simple and safe way to reduce postoperative drainage volume in lower lumbar spine surgery which is worthy of further investigations.

Objective To examine the heritability of neurocognitive functions in bipolar I disorder(BD-I)families and BD-associated cognitive endophenotypes. Methods Seventy-nine nuclear families consisting of euthymic BD-I probands and their healthy parents were recruited. Cognitive functions including attention, working memory, processing speed and executive function were evaluated by 7 classic neurocognitive tests, and the heritability of neuroconitive functions in these families was estimated using parent-offspring regression indexes of quantitative traits.Furthermore,the heritable cognitions were compared between 79 BD probands and 140 normal controls. Results After adjusted by age and education,mistake numbers of Trail Making Test A(TMT-A),total score and completed mission numbers of Tower of Hanoi (TOH) were significantly heritable (P<0.05). The comparison of these heritable cognitions between patients and normal controls showed that TOH total score and TOH completed mission numbers were significantly impaired in the patient group (P<0.05). Conclusion Processing speed and executive function are probably heritable in BD nuclear families. Executive function impairments may be disease-related which could be candidate endophenotypes for bipolar disorder.

Objective: To evaluate periodontal status of 380 pregnant women and its related factors. Methods: 380 healthy pregnant women aged 20 to 43 at 10-35 weeks of gestation were enrolled and received a questionnaire and a periodontal examination, in order to compare and analyse the effects of different ages, gestational weeks and educational levels on periodontal condition. Results: The prevalence of periodontal disease of the subjects was 87. 1％. In first (10-15 weeks), second (16-27 weeks) and third (28-35 weeks) trimester PD (mm) was 2. 48 ± 0. 54, 2. 60 ± 0. 54 and 2. 71 ± 0. 48 respectively (P ＜ 0. 05) ; the percentage of PD≥4 mm in 2 or more sites were 76. 5％, 84. 1％ and 93. 5％ respectively (P ＜ 0. 05) ; GI and BI did not show significant differences among of the 3 groups trimester stages (P＞ 0. 05) ; PD in maternal age (year) 20-27, 28-35 and 36-43 years was2. 39 ± 0. 51, 2. 61 ± 0. 53 and 2. 61 ± 0. 56 respectively (P ＜ 0. 05) . A significantly positive linear trend was observed between age and GI (P ＜ 0. 05) or PD (P ＜ 0. 05), but without significant correlation between age and BI. Significant correlation was found between pregnant weeks and PD (P ＜ 0. 05), but without correlation between pregnant weeks and GI (P＞ 0. 05) or BI (P＞ 0. 05) .Conclusion: The prevalence of periodontal disease during pregnancy is high. Meanwhile, the periodontal inflammation is increasing worse with the increase of gestational weeks and maternal age.

Clinical biochemical examination is an important part of medical laboratory, and it is also the key and difficult point of all kinds of examinations.However,the teaching of clinical biochemistry is easily to enter the misunderstanding of "focusing only on the instrument operation, while others depend on self-study". There is even confusion that teachers don′t know what to teach and students don′t know what to learn.In this paper, the teaching experience of the clinical biochemical laboratory is described,formulated a scientific block training program, adopted the teaching mode of combining tutorial responsibility with daily teaching,flexibly used a variety of teaching methods and procedural examinations, and greatly improved the teaching quality.

Objective:To enhance understanding of mental retardation autosomal dominant 35 (MRD35) by analyzing the clinical and genetic characteristics of the disease.Methods:Clinical and genetic data of 1 case of MRD35 in Beijing Children′s Hospital in July 2018 were reported, and literature review was conducted.Results:The male proband, 1 year and 3 months old, was admitted with the clinical manifestations including mental retardation, low-grade fever, a large forehead, flat nose, open mouth, and hypomyotonia. The brain magnetic resonance imaging showed enlarged lateral ventricles, cavum septum, cavum verge and cavum velum interpositum cyst. The whole exome sequencing test showed that the proband carried a missense mutation c.1258 G>A, (p.E420K) in the PPP2R5D gene, and the mutation was de novo confirmed by Sanger sequencing. There were ten literatures reported, including a total number of 31 cases. Counting on this case, totally 32 cases were included. Among the 32 patients, 32 cases (100.0%) had mental retardation, 26 cases (81.3%) with motor retardation, 26 cases (81.3%) with macrocephaly, 8 cases (25.0%) with epilepsy. Facial dysmorphic features, ocular abnormalities, skeletal abnormalities, and cardiac malformations were also reported. All reported individuals had missense mutations of PPP2R5D gene and were autosomal dominantly inherited. Conclusions:The main clinical manifestations of MRD35 include growth retardation/mental retardation, severe speech impairment, macrocephaly, hypomyotonia, seizures and dysmorphic facial features. A novel missense mutation in the PPP2R5D gene is the cause of MRD35.

OBJECTIVE: To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing. METHODS: Peripheral blood samples from the two patients and their parents were collected and genomic DNAs were extracted to conduct targeted next generation sequencing or whole exome sequencing. Bioinformation analysis was performed to identify the pathogenic variants in genes associated with cardiomyopathy, which were further validated by Sanger sequencing. RESULTS: By high throughput sequencing, we detected a de novo heterozygous variant c.549+1G>T in TNNI3 gene in patient 1. The variant has not been reported previously and was predicted to be pathogenic in line with American College of Medical Genetics and Genomics (ACMG) guidelines (PVS1+PS2+PM2). Another heterozygous variant c.433C>T (p.Arg145Trp) in TNNI3 gene was identified in patient 2 and his father. The variant had been reported as pathogenic variant in Clinvar and HGMD databases; based on ACMG guidelines, the variant was predicted to be likely pathogenic (PS3+PM1+PP3). CONCLUSION TNNI3 variants may be the causative gene responsible for restrictive cardiomyopathy in the two patients. High throughput sequencing results provide bases for the diagnosis of restrictive cardiomyopathy.
Cardiomyopathy, Restrictive/genetics* ; Child ; Genomics ; Heterozygote ; Humans ; Mutation ; Whole Exome Sequencing

Rare diseases refer to a group of diseases having very low incident rates in the population without unified definition up till now. Approximately 50% to 75% of rare diseases occur at birth or in childhood, incurring huge psychological and economic burden to families and society. With the rapid development of diagnostic technology and the continuous progress in treatment and the introduction of relevant policies, China has made great progress in the prevention and treatment of rare diseases. This article summarizes the latest progress in the diagnosis, clinical management, and research of pediatric rare diseases; and explores the prospects in the future.

OBJECTIVE: To explore the clinical and genetic characteristics of eight children with Primary hypertrophic cardiomyopathy (HCM). METHODS: Eight children with HCM admitted to the Department of Cardiology of Henan Children's Hospital from January 2018 to December 2021 were selected as the study subjects. Clinical data of the children were collected. Whole exome sequencing was carried out on two children, and trio whole exome sequencing was carried out on the remainder 6 children. Sanger sequencing was used to verify the candidate variants in the children and their parents, and the pathogenicity of the variants was evaluated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The patients had included 5 males and 3 females, with their ages ranging from 5 to 13 years old. The average age of diagnosis was (7.87 ± 4.8) years old, and the cardiac phenotype showed non-obstructive HCM in all of the patients. WES has identified variants of the MYH7 gene in 4 children, including c.2155C>T (p.Arg719Trp), c.1208G>A (p.Arg403Gln), c.1358G>A (p.Arg453His), and c.1498G>A (p.Glu500Lys). Based on the guidelines from the ACMG, the first 3 variants were classified as pathogenic, while c.1498G>A (p.Glu500Lys) was classified as likely pathogenic (PM1+PM2_Supporting+PM6+PP3), which was also unreported previously. The remaining four children had all harbored maternal variants, including MYL2: c.173G>A (p.Arg58Gln; classified as pathogenic), TPM1: c.574G>A (p.Glu192Lys) and ACTC1: c.301G>A (p.Glu101Lys)(both were classified as likely pathogenic), and MYBPC3: c.146T>G (p.Ile49Ser; classified as variant of uncertain significance). Seven children were treated with 0.5 ~ 3 mg/(kg·d) propranolol, and their symptoms had improved significantly. They were followed up until September 30, 2022 without further cardiac event. CONCLUSION Genetic testing can clarify the molecular basis for unexplained cardiomyopathy and provide a basis for clinical diagnosis and genetic counseling. Discovery of the c.1498G>A (p.Glu500Lys) variant has also expanded the spectrum of MYH7 gene mutations underlying HCM.
Female ; Male ; Humans ; Child ; Child, Preschool ; Adolescent ; Cytoskeletal Proteins ; Family ; Genetic Counseling ; Genetic Testing ; Cardiomyopathy, Hypertrophic/genetics*

Objective:To explore the feasibility of using the sigma metrics calculated with the data of internal quality control for the comparison of the analytical performance between different biochemical analyzers.Methods:The internal quality control results of twenty-five biochemical assays in the biochemical analyzers of the department of clinical laboratory in Cancer Hospital from February 1, 2021 to July 31, 2021 were collected. The formula sigma =( TEa- Bias)/ CV was used to calculate the sigma metrics of two different levels of the biochemical assays including albumin, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, calcium, cholesterol, creatine kinase, chlorine, creatinine, γ- glutamyltranspeptidase, blood glucose, high density lipoprotein cholesterol, immunoglobulin A, immunoglobulin G, immunoglobulin M, potassium, lactate dehydrogenase, low density lipoprotein cholesterol, sodium, inorganic phosphorus, total bilirubin, triglyceride, total protein, urea, uric acid. The imprecision was obtained by the coefficient of variation of internal quality control. The bias was calculated by the deviation between the mean of internal quality control of the comparison instrument and the target instrument. The allowable total error ( TEa) was based on People's Republic of China Health Industry Standard (WS/T403-2012) or EQA standard of National Center for Clinical Laboratories (NCCL). Compared the sigma values of the comparison instrument relative to the target instrument with the average percentage bias obtained by the traditional comparison method. Quality goal index was used to analyze the causes of poor performance and judge the results of comparison. Results:Compared with the target instrument Beckman AU5800-3, the comparison instrument Beckman AU5800-1 had 10 assays with σ>6, accounting for 40%, 23 assays with σ>3, accounting for 92%, and only albumin and blood glucose showed σ<3. Through statostical analysis, the comparisons of all assays were passed. The comparison instrument Beckman AU5800-2 had 8 assays with σ>6, accounting for 32%, 20 assays with σ>3, accounting for 80%. Only alkaline phosphatase, calcium, lactate dehydrogenase, total protein and urea showed σ<3. Through statostical analysis, the comparisons of GGT and IgM failed. For the traditional comparison method, the percentage bias between the comparison instruments and the target instrument were all within the range of the evaluation standard. But there was no significant correlation between the σ value and the average bias of the traditional comparison method, and the biases were correlated.Conclusions:Using the sigma metrics calculated with the data of internal quality control for the comparison of different detection systems is a convenient and operable method. It can monitor the comparability between different detection systems in the laboratory at any time and be the supplement of the traditional comparison method.

Marinesco-Sj?gren syndrome(MSS)is a rare autosomal recessive inherited disease charac-terized by cerebellar ataxia,early-onset cataracts,chronic myopathy,and intellectual disability and develop-mental delay at varied degrees.Some patients may manifest such symptoms as short stature,hypergonadotropic hypogonadism,various skeletal abnormalities resulted from the muscular weakness,and others.This article re-ports the clinical and molecular diagnosis process of two MSS cases with global developmental delay.We found the compound heterozygous variants c.109delG(p.Glu37Serfs*4)and c.353G＞C(p.Arg118Thr),c.443delA(p.Lys148Argfs*10)and c.707A＞G(p.Asn236Ser)by Trio-whole exome sequencing(Trio-WES)which are evaluated as pathogenic,and uncertain significant,pathogenic and likely pathogenic variants separately.We provided genetic consultation based on the molecular diagnosis and evaluated the risk for the offsprings in the families.By introducing the two cases and literature review,this article aims at improving the understanding of MSS and providing reference to the diagnosis of the disease.