Combined anti-cancer effects of curcumin and oxaliplatin on colon carcinoma colo205 cells using transplanted nude mice.

The objective of this study was to investigate the effects of curcumin combined with oxaliplatin on human colon carcinoma Colo205 cells and to analyze the anti-cancer mechanism. Sixty nude mice were inoculated with Colo205 cells as tumor transplanted models which were randomly divided into control group, curcumin group, oxaliplatin group and curcumin plus oxaliplatin group (n=15 in each group). The volume of tumor and the tumor suppressor rate was calculated after continuous administration of the curcumin or oxaliplatin for 10 times. The routine blood tests, the liver function and kidney tests were performed. The cell cycle, apoptosis rate and the pathological morphology of tumor tissues was observed. The expression of Bcl-2 and Bax related to apoptosis was detected. The turned out degree of tumor inhibition varied when compared to the control group while the curcumin plus oxaliplatin group served for highest inhibition rate. Statistically insignificant difference (P>0.05) was observed among the groups in routine blood, liver and kidney function tests. The tumor apoptosis rate was significantly increased in other three groups when compared to the control group. There was insignificant difference (P>0.05) in Bax expression of tumor tissue of control group, curcumin group and oxaliplatin group while in curcumin plus oxaliplatin group, it was significantly increased. The expression of Bcl-2 in oxaliplatin group was significantly lower and the value of Bcl-2/Bax in curcumin plus oxaliplatin group was decreased most obviously.

Reconstruction scalp defects after malignant tumor resection with anterolateral thigh flaps.

OBJECTIVE: Some patients experience massive neglected scalp malignant tumors involving the soft tissues and bone. Management of these tumors includes thorough tissue resection to obtain negative margins and cover the defects with enough composite tissues. In this article, we presented our experiences of reconstructions with free anterolateral thigh (ALT) flaps. METHODS: We performed a retrospective review of 6 patients who had a single-stage tumor removal and free-tissue transfer over the last 10 years. All the patients were treated with ALT flaps with or without fascia lata according to the defects. RESULTS: The size of the flaps ranged from 8 to 25 cm in length and from 6 to 20 cm in width. All patients healed well without major complications except for 1 case that partial skin-graft loss occurred at the donor sites. CONCLUSIONS: Scalp malignant tumors are generally associated with high mortality rates, and the reconstruction surgery is quite complicated. We demonstrate that free ALT flap transfer yields acceptable survival with favorable safety.

Design and Fabrication of a Microfluidic Viscometer Based on Electrofluidic Circuits.

This paper reports a microfluidic viscometer based on electrofluidic circuits for measuring viscosities of liquid samples. The developed micro-device consists of a polydimethylsiloxane (PDMS) layer for electrofluidic circuits, a thin PDMS membrane, another PDMS layer for sample pretreatment, and a glass substrate. As the sample flows inside the microfluidic channel, its viscosity causes flow resistance and a pressure drop along this channel. This pressure drop, in turn, generates a hydraulic pressure which deforms the PDMS membrane, causing changes in the cross-sectional area and the electrical resistance of the electrofluidic resistor. This small resistance change is then measured via the electrofluidic Wheatstone bridge to relate the measured voltage difference to the fluidic viscosity. The performance of this viscometer was first tested by flowing nitrogen gas with controllable pressures into the device. The relationship between measured voltage difference and input gas pressure was analyzed to be linear in the pressure range of 0⁻15 psi. Another test using pure water indicated good linearity between measured voltage difference and flow rate in the rate range of 20⁻100 µL/min. Viscosities of glycerol/water solutions with volume/volume (v/v) concentrations ranging from 0 to 30% were measured, and these values were close to those obtained using commercially available viscometers. In addition, the sample-pretreatment layer can be used to mix and/or dilute liquid samples to desired concentrations. Therefore, this microfluidic device has potential for measurements of fluidic viscosity in a fast, accurate, and high-throughput manner.

Interpretation of transdiagnostic clinical staging in youth mental health: international consensus statement (2020) / 中华实用儿科临床杂志

Youth mental illnesses are chronic and recurrent and present a continuous disease development and progression, which cause different functional impairments like cognitional, emotional and behavioral disorders.At pre-sent, the clinical diagnosis of youth mental illness largely relies on behavioral symptoms.The diagnosis is made by the consistency between behaviors and symptoms of patients and those described in the diagnostic criteria.Although the diagnosis is operational to a certain extent in clinical practise, its assessment is subjective and lacks effective neurobio-logical indicators, resulting in a low consistency of diagnosis and great challenges in the early diagnosis and standardized intervention of youth mental illnesses.The prodromal symptoms in youth mental illness are unspecific and there is a decrement in neurocognition including social cognition by the emergence of traditional symptom sets.Therefore, transdiagnostic clinical staging model is of great significance in clinical assessment in youth mental illness.Here, the essentials of the " transdiagnostic clinical staging in youth mental health: a first international consensus statement" published in the World Psychiatry in 2020 were interpreted, with a detailed analysis of the key updates, aiming to provide a reference for clinical diagnosis and treatment of youth mental illness.

Analysis of related factors to suicide attempt among patients with major depressive disorder in general hospital psychology clinic / 中国医师杂志

Objective To explore the prevalence and related factors of suicide attempt among patients with major depressive disorder (MDD) and to provide a scientific theoretical basis for preventing suicide attempts in patients with MDD.Methods The researchers selected 162 patients with MDD based on the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-Ⅳ) diagnostic criteria from some patients presenting in the department of Psychology at the First Affiliated Hospital of China Medical University during the January 2017 to March 2018,using the Structured Clinical Interview for DSM-Ⅳ-TR Patient version (SCID-P) as a screening tool.The self-designed General Information Questionnaire and Hamilton Depression Scale-17 items (HAMD-17) were used to investigate and evaluate the factors that affected suicide attempt.Results The detection rate of suicide attempt was 17.3％ (28/162).Compared with the two groups with or without a history of suicide attempt,the age of the MDD patients (Z =-2.183,P =0.029),the place of residence of the MDD patients (x2 =5.405,P =0.020),and the total score of the HAMD-17 scale (t =-2.132,P =0.035),the score of the depression factor (Z =-3.627,P ＜ 0.001),guilt factor score (Z =-3.086,P =0.002),the score of the suicidal ideation factor (Z =-5.088,P ＜0.001) and sleepiness score (Z =-2.021,P =0.043) were significantly different.Multivariate logistic regression analysis showed that age (OR =0.930,P =0.022) was a protective factor of suicide attempt and the residence in rural areas (OR =3.955,P =0.038),severe depression (OR =3.795,P =0.020) and suicidal ideation (OR =2.496,P =0.002) were independent risk factors for attempted suicide.Conclusions Residence in rural areas,younger age,suicidal ideation and depression are independent risk factors for suicide attempt of depressive patients.Clinical psychologists in general hospitals should strengthen the evaluation of these factors when inquiring to prevent the occurrence of suicide attempt.

Analysis of related factors to suicide attempt among patients with major depressive disorder in general hospital psychology clinic / 中国医师杂志

Objective@#To explore the prevalence and related factors of suicide attempt among patients with major depressive disorder (MDD) and to provide a scientific theoretical basis for preventing suicide attempts in patients with MDD.@*Methods@#The researchers selected 162 patients with MDD based on the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-Ⅳ) diagnostic criteria from some patients presenting in the department of Psychology at the First Affiliated Hospital of China Medical University during the January 2017 to March 2018, using the Structured Clinical Interview for DSM-Ⅳ-TR Patient version (SCID-P) as a screening tool. The self-designed General Information Questionnaire and Hamilton Depression Scale-17 items (HAMD-17) were used to investigate and evaluate the factors that affected suicide attempt.@*Results@#The detection rate of suicide attempt was 17.3% (28/162). Compared with the two groups with or without a history of suicide attempt, the age of the MDD patients (Z=-2.183, P=0.029), the place of residence of the MDD patients (χ2=5.405, P=0.020), and the total score of the HAMD-17 scale (t=-2.132, P=0.035), the score of the depression factor (Z=-3.627, P<0.001), guilt factor score (Z=-3.086, P=0.002), the score of the suicidal ideation factor (Z=-5.088, P<0.001) and sleepiness score (Z=-2.021, P=0.043) were significantly different. Multivariate logistic regression analysis showed that age (OR=0.930, P=0.022) was a protective factor of suicide attempt and the residence in rural areas (OR=3.955, P=0.038), severe depression (OR=3.795, P=0.020) and suicidal ideation (OR=2.496, P=0.002) were independent risk factors for attempted suicide.@*Conclusions@#Residence in rural areas, younger age, suicidal ideation and depression are independent risk factors for suicide attempt of depressive patients. Clinical psychologists in general hospitals should strengthen the evaluation of these factors when inquiring to prevent the occurrence of suicide attempt.

Genome-wide copy number microarray analysis for a boy with autism / 中华医学遗传学杂志

OBJECTIVE@#To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array).@*METHODS@#SNP array analysis was conducted for the boy and his parents, and the data was validated by real-time PCR. Correlation between the deleted genes and the phenotype was analyzed by reviewing the literature.@*RESULTS@#The patient was found to carry a terminal deletion of 18q22.3q23 (7.1 Mb), which involved FBXO15, ZNF407, ZADH2, TSHZ1, MBP and ADNP2 genes. No pathogenic CNVs were found in the parents. Comparison of the patient with cases reported in the literature suggested that the ZNF407 gene probably accounts for the autistic phenotype in these patients.@*CONCLUSION@#The autistic phenotype of the patient may be attributed to the 18q deletion, for which ZNF407 may be a critical candidate. SNP array has provided an useful tool for the study of molecular mechanism underlying autism.

Preparation and cytocompatibility of porous zirconia scaffold modified by graphene oxide for bone tissue engineering / 医学研究生学报

Objective In order to meet the needs of maxillofacical bone defect repair, the aim of this study was to synthesize graphene oxide(GO) modified three-dimensional conneted nano- zirconia(ZrO2) bone tissue engineering scaffold and evaluate its surface morphology, compressive strength and cytocompatibility. Methods GO was synthesized by a modified Hummers method and then was testified by scanning electron microscope, transmission electron microscopy and fourier transform infrared spectroscopy. ZrO2 scaffold was modified by different concentrations(0.5,1.0,1.5mg/mL) of GO dispersion via a silane-mediated method. The composite scaffold with uniform GO coating was chosen for compressive strength test and co-cultured with human dental pulp stem cells(hDPSCs). Actin staining was used to observe the growth of the cells on the scaffold, and MTS was used to detect the cell activity. Results The characterization results showed that, under scanning electron microscope, the GO was flaky and the surface morphology of folds could be seen. Part of the GO layer folds up at the edge. Under transmission electron microscopy, the GO was clearly observed to have a gossylike, translucent and slightly wrinkled lamellar structure. The crystal structure in this area in the high-resolution filter image showed a six-member ring structure like graphite. Under high power electron microscope, the 1.0mg/ml GO-ZrO2 scaffold could be seen to deposit a thin layer of GO at the crack of the scaffold skeleton, connecting the two ends of the crack, and lamellar GO with folds could be observed on the surface of ceramic particles. The comparison of mechanical properties showed that the compression strength of GO-ZrO2 scaffold was sgnificantly increased compared with that of ZrO2 scaffold[（1.292±0.087）vs（1.031±0.076）, P<0.05]. Compared with the simple ZrO2 scaffold, the GO-ZrO2 scaffold showed more dense extension and adhesion to the surface of scaffolds, showing more active cell proliferation. The cell viability test showed that the viability of hDPSCs was significantly improved on GO-ZrO2 scaffold after 1, 3 and 5 days of proliferation compared with the simple ZrO2 scaffold(P<0.05). Conclusion The ZrO2 scaffold modified by GO improved compressive strength, promoted the early proliferation of hDPSCs with good cytocompatibility.

Combined Use of Duloxetine and Olanzapine in the Treatment of Urologic Chronic Pelvic Pain Syndromes Refractory to Conventional Treatment: A Case Report

Patients with urologic chronic pelvic pain syndromes (UCPPS) report interstitial cystitis/bladder pain syndrome and/or chronic prostatitis/chronic pelvic pain syndrome. The pathogenesis of these syndromes remains unclear and there is currently no standard treatment. UCPPS is, therefore, often misdiagnosed and its management is complex. The present case report involves a 62-year-old male patient with UCPPS whose main presentation is painful bladder filling and painful urgency refractory to conventional treatment with medication, which was successfully treated with the combined use of duloxetine and olanzapine. The combined use of duloxetine and olanzapine may become a new therapeutic option in the management of UCPPS.

Effectiveness and safety of arthroscopic debridement for treatment of degenerative knee osteoarthritis in the elderly patients: study protocol for non-randomized controlled clinicaltrial / 中国组织工程研究

BACKGROUND: The treatment of degenerative knee osteoarthritis is mainly to relieve pain, restore knee function, improve quality of life, delay knee replacement, and reduce the number of revisions. Knee replacement is currently the most common treatment for this disease, but it costs much, has great trauma and high risk, often results in prosthesis loosening and peripheral infection, and has many adverse reactions. OBJECTIVE: We hypothesize that knee-preserving arthroscopic debridement for treatment of knee degenerative osteoarthritis in the elderly patients costs less, is effective, safe, and reliable. METHODS: A total of 212 elderly patients (knees) with degenerative knee osteoarthritis who receive treatment in the Second Hospital of Chaoyang (Liaoning Province, China) will be included in this study. These patients will be assigned to two groups according to patient's conditions and wishes (n = 106/group). In the control group, intra-articular injection of sodium hyaluronate will be performed, followed by oral administration of non-steroidal anti-inflammatory drugs, conventional physiotherapy, and quadriceps functional exercise. In the arthroscopic debridement group, arthroscopic debridement will be performed followed by oral administration of non-steroidal anti-inflammatory drugs, conventional physiotherapy, and quadriceps functional exercise. All patients will be followed up for 1 week, 1 month, 3 months, 6 months, 1 year, and 2 years. RESULTS AND CONCLUSION: The primary outcome measure is the percentage of the number of patients with Hospital for Special Surgery (HSS) knee score ≥ 85 points at 2 years after surgery, which will be used to evaluate knee function recovery. The secondary outcome measures are the percentage of the number of patients with HSS knee score ≥ 85 points before surgery, 1 week, 1 month, 3 months, 6 months, and 1 year after surgery; HSS score, Visual Analogue Scale (VAS) score, The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), knee range of motion, hospitalization costs, and knee X-ray morphology before surgery, 1 week, 1 month, 3 months, 6 months, 1 year, and 2 years after surgery, medical costs after 2 years of treatment, incidence of adverse reactions at 1 week, 1 month, 3 months, 6 months, 1 year and 2 years after surgery. Findings from this study will reveal whether arthroscopic debridement for the treatment of degenerative knee osteoarthritis in the elderly patients has advantages of less adverse reactions, low treatment costs, and can effectively restore knee function. This trial has been approved by the Second Hospital of Chaoyang, Liaoning Province, China (approval number:2017-08-01).All protocols will be in accordance with Declaration of Helsinki,formulated by the World Medical Association.Written informed consent will be provided by participants. This trial was designed in June 2017. The recruitment of subjects and data collection will begin in June 2018. The recruitment of subjects will be finished in December 2018. Outcome measures will be analyzed in June 2021. This trial will be completed in August 2021. The results of the trial will be reported in a scientific conference or disseminated in a peer-reviewed journal. This trial had been registered in the Chinese Clinical Trial Registry (registration number: ChiCTR1800015208). The version of this study protocol is (1.0).

Platelet-rich plasma ameliorates photo-aging phenotype of fibroblasts by adjusting the generation of reactive oxygen species / 中华医学美学美容杂志

Objective To explore the effect of platelet-rich plasma (PRP) on the generation of reactive oxygen species (ROS) and the phenotypes of photo-aging fibroblasts.Methods A photoaging cell model by repeating UVB irradiation was treated using appropriate concentration of PRP;Cell morphology and the rate of aging dying were observed under inverted microscope 24 hours later after establishment of the cell model;The expression of ROS between experimental and control group was detected using fluorescence microscope after single UVB irradiation.The relative intensity of fluorescence was analyzed using flow cytometry.Results PRP could ameliorate the large and sprawl appearance of photoaging fibroblasts obviously,reduce the generation of ROS as well as decrease the relative intensity of ROS.Conclusions PRP can decrease the level of intracellular oxidative stress caused by UVB irradiation,reduce the generation of ROS and ameliorate the senescence-like phenotypes of pho toaging fibroblasts.

Clinical phenotype and genetic analysis of MED13L syndrome / 中国当代儿科杂志

A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.

One case report of Jacobsen syndrome combine with Paris-Trousseau syndrome / 临床儿科杂志

Objective To investigate the clinical features of a patient diagnosed with Jacobsen syndrome (JBS) and Paris-Trousseau syndrome (PTS) using chromosomal microarray analysis. Method A retrospective analysis including the patients' clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The patient also presented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, sparse eyebrows, and speech delay. Gesell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality. This patient was also diagnosed with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions Patient diagnosed with JBS and PTS often present with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.

Expression, purification and enzymatic characteristics of aldehyde dehydrogenase from MP688 / 军事医学

Objective To clone the aldehyde dehydrogenase (adhA) gene from Methylovorus glucosotrophus and study its expression,purification and enzymatic characteristics.Methods The adhA gene was amplified and cloned to the expression vector pTIG.The AdhA was successfully expressed with induction in Escherichia coli BL21(DE3).The enzymatic characteristics were investigated by AHMT,and AdhA was purified by Ni+ exchange chromatography.Results AdhA accounted for more than 50% of the total cell proteins,and the purity was about 95%.With methanol as the substrate,the optimal pH of AdhA was 7.0,while the optimal temperature was 30℃.The enzymatic activity of purified AdhA remained about 60% when stored at room temperature for 6 days.Conclusion AdhA from MP688 is expressed in vitro,and methanol is the optimal substrate among all the substrates investigated.

Potential to differentiation of human dermis-derived fibroblast-like cells into mesenchymal stem cells in vitro / 吉林大学学报(医学版)

Objective:To study the differentiation capacity of the fibroblast-like cells isolated from human skin dermis into mesenchymal stem cells, and to explore the feasibility to use these cells as alternative cell source of autologus bone marrow mesenchymal stem cells (BMSCs ) for regeneration of tissue inj uries and defects. Methods:Full thickness skin samples were obtained from the abdomen of surgical patients, then digested with dispase and collagenase Ⅰ subsequently. Thereafter, the digested cells were collected and cultured, followed by suspension with serum free medium containing N2,B27,basic fibroblast growth factor (bFGF),and epidermal growth factor (EGF).The skin dermis derived spheroids (SDDSs)were collected and monolayer cultured in serum-containing medium.Finally,the cells were characterized by immunofluorescence staining and differentiation assays.Results:The dermis derived cells proliferated and formed SDDSs in the suspension of serum-free medium. After monolayer cultivation in serum-containing medium, the cells from spheroids were successfully expanded to large number. The cells expressed mesenchymal stem cells markers CD90, CD105 and vimentin. Under osteogenic,chondrogenic and adipogenic differentiation conditions,these cells were differentiated into the alizarin red,safranin O, and oil red O staining positive cells, displayed similar differentiation traits with BMSCs. However,safranin O staining was weaker in the dermis derived cells than BMSCs. Conclusion:A kind of fibroblast-like cells exist in human skin dermis, and have osteocytic, chondrogenic and adipogenic differentiation potentials,demonstrating that these cells will be utilized as a novel cell source for repairing the tissue injury and defect in clinic.

Preparation and characterization of monoclonal antibodies against botulinum neurotoxins serotype A / 军事医学

Objective To prepare and characterize specific monoclonal antibodies( McAbs) against the heavy chain of botulinum neurotoxin serotype A ( BoNT/AHc ) .Methods BALB/c mice were immunized with purified BoNT/AHc protein.After the fusion of mouse splenic cells with SP2/0 cells, hybridoma cell lines secreted McAbs against BoNT/AHc. The McAbs obtained were characterized by indirect ELISA, Western blotting and rapid isotypingassay before being used in ELISA to detect interaction sites in McAbs and BoNT/AHc preliminarily.Results Antigen protein BoNT/AHc of high purification was obtained.Four hybridoma cell lines secreting McAbs against BoNT/AHc were screened,named 1A4,3H3, 3H7 and 5H8,respectively.Their titers of McAbs were all above 3.0 ×103 .They were specifically combined with BoNT/AHc protein by Western blotting.The isotype of 1A4 and 3H7 was IgG1(Κ),that of 3H3 was IgM(Κ),and that of 5H8 was IgG2b(Κ).Additive ELISA showed that epitopes recognized by the four McAbs were close.ELISA analysis confirmed the interaction epitopes in McAbs and BoNT/AHc.Conclusion Monoclonal antibodies against BoNT/AHc are prepared and characterized,providing effective tools for studying the neutralizing antibody and antibody epitopes of BoNT/AHc.

Clinical significance of expression of SMRP and CA125 in serum and tumor tissues of patients with ovarian cancer / 国际检验医学杂志

Objective To explore the clinical significance of expression of soluble mesothelin relatedprotein(SMRP)and carbo-hydrate antigen (CA125)in the serum and tumor tissues of the patients with ovarian cancer.Methods The preoperative and post-operative levels of SMRP and CA125 in serum and ovarian cancer tissues were detected in 82 patients with ovarian cancer (group A),76 cases of benign ovarian tumor (group B)and 53 healthy women (group C)by using ELISA and the immunohistochemical method respectively.Serum levels of SMRP and CA125 in the ovarian cancer patients were measured after one year by ELISA.The correlation among the various statistical indexes was analyzed.Results The positive expression rates of SMRP and CA125 in the group A were significantly higher than those in the group B(P <0.05);compared with the group B and C,the preoperative serum level of CA125 and SMRP in the group A was significantly increased (P <0.001);the preoperative serum CA 125 level in the group B was higher than that in the group C;compared with the stage Ⅰ and Ⅱ,the serum CA125 and SMRP in the stage Ⅲ and Ⅳ of o-varian cancer were significantly increased(P <0.05 );compared with before operation,the postoperative SMRP and CA125 levels were significantly decreased(P <0.05).After 1 year of discharge from hospital,compared with the basically stable patients,serum CA125 and SMRP levels in the patients with ovarian cancer recurrence were significantly increased(P <0.05).The sensitivity and specificity for diagnosing ovarian cancer,any single detection was inferior to the combination detection of CA125 and SMRP.Conclu-sion The combination detection of CA125 and SMRP has an important value for increasing the sensitivity and specificity of ovarian cancer diagnosis,early diagnosis,illness condition monitoring and effect evaluation.

Clinical features and MECP2 mutations in children with Rett syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China.</p><p><b>METHODS</b>PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents.</p><p><b>RESULTS</b>Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over 50%; there was one case of insert mutation (c.913insT) and 4 cases of missense mutation (exon 3: c.316C>T (R106W); exon 4: c.502C>T (R168X), c.808C>T (R270X), and c.1126C>T (P376S). A new mutation (c.913insT) was found. No mutations were detected in their parents. Two patients had MECP2 mutations in the transcriptional repression domain (TRD). They had almost lost language functions and were found to have significantly delayed development compared with other patients.</p><p><b>CONCLUSIONS</b>Mutations in MECP2 gene were detected in 5 confirmed cases of Rett syndrome, and most of them were on exon 4. Mutations in the TRD of MECP2 protein may affect the language ability and development in children with Rett syndrome.</p>

Evaluation on the acceptability of method performance validation for quantitative tests / 中华检验医学杂志

We compared the total errors observed from both precision and accuracy validation experiments with defined medically allowable errors for each quantitative test,and used Westgard's method evaluation decision chart for initial judgement of the acceptability of method validation performance. Moreover,we need to judge the acceptability of other method validation parameters,so that we could integratedly assess and judge whether the testing system is acceptable to use in the laboratory.