PCR-based capillary electrophoresis(PCR/CE)for genetic detection of SMN 1 and SMN 2 / 实用医学杂志

Objective To establish a PCR-based capillary electrophoresis(PCR/CE)to detect Survival Motor Neuron 1(SMN1)and Survival Motor Neuron 2(SMN2)genes and to evaluate its performance.Methods PCR/CE and Multiplex Ligation-dependent Probe Amplification(MLPA)for SMA gene diagnosis were used to blindly test the samples in sync.The performance of PCR/CE was assessed using MLPA results as the standard.Results A total of 336 samples were included in this study,consisting of 50 homozygous deletion types(14.9%),65 heterozygous deletion types(19.3%),and 221 non-deletion types(65.8%).The results of PCR/CE for detect-ing SMN1 and SMN2 copy numbers(0,1,2,3,≥4)were in complete agreement with the results of the MLPA.Conclusions PCR/CE for gene testing related to SMA could accurately detect copy numbers of exon 7 and exon 8 of the SMN1 and SMN2 genes(0,1,2,3,≥4).

Smoking network characteristics of smoking cessation outpatients in Kunming City / 中华健康管理学杂志

Objective:To analyze the characteristics of smoking network among smokers in Kunming smoking cessation outpatient service.Methods:A multicenter, cross-sectional study was carried out, and smoking cessation outpatients from 8 tertiary hospitals (the Second Affiliated Hospital of Kunming Medical University, the First Affiliated Hospital of Kunming Medical University, Yan′an Hospital, Ganmei Hospital, the 920 Hospital of the Chinese People′s Liberation Army Joint Logistic Support Force, Kunming First People′s Hospital, the First People′s Hospital of Yunnan Province and the Second People′s Hospital of Yunnan Province) in Kunming, Yunnan Province were included to receive a questionnaire survey. The questionnaire mainly consisted of four parts: (1) demographic characteristics of smokers; (2) the specific situation of smoking; (3) social support network; (4) smoking network. A total of 360 questionnaires were distributed in this survey, 351 were recovered, and 351 were valid, the collected data from valid questionnaire were statistically analyzed to analyze the social demographic characteristics, smoking status and smoking network characteristics of smokers.Results:In this survey, the demographic characteristics of the 351 patients in the smoking cessation clinic were as follows: there were 342 male cases (97.4%), 249 cases (70.9%) were Han, 233 patients (66.4%) were non-religious, there were 236 cases (67.2%) with college degree or above, and 51 cases (14.5%) were unemployed. The analysis of smoking status showed that 167 patients (47.6%) maintained daily smoking, 247 patients (70.4%) had plans to quit smoking, at least one parent of 258 patients (73.5%) had a history of smoking, 188 patients (53.6 %) smoked at home. In the smoking network of the surveyed patients, there were 304 patients (86.6%) who smoked together with two or more people, and more than 90 percent of the patients smoked with the same sex.Conclusions:The smoking network of patients in Kunming smoking cessation clinic is small, and a third of smokers are friends. It is suggested to use the characteristics of smoking network to carry out smoking cessation intervention activities, so as to improve the success rate of smoking cessation.

Analysis of pulmonary ventilation dysfunction in patients with different HRCT types of pneumoconiosis / 中国职业医学

OBJECTIVE: To investigate the change of pulmonary ventilation function in patients with simple type and complex type pneumoconiosis based on high resolution computed tomography(HRCT). METHODS: A total of 188 male patients with pneumoconiosis were selected as the study subjects by judgment sampling method. Patients were divided them into simple type group(104 cases) and complex type group(84 cases) according to their chest HRCT findings. Another 80 healthy men who have no dust and other occupational hazard exposure were selected as the control group. The lung function tests were performed in patients in these three groups. RESULTS: The indexes of pulmonary function including vital capacity, forced vital capacity(FVC), forced expiratory volume in one second(FEV_1), FEV_1/FVC%, peak expiratory flow, forced expiratory flow at 25% of FVC exhaled, forced expiratory flow at 50% of FVC exhaled, forced expiratory flow at 75% of FVC exhaled and forced expiratory flow at 25% to 75% of vital capacity were lower in patients with pneumoconiosis of simple type and complex type groups than that in the control group(all P<0.01). The above indexes in the complex type group were lower than that in the simple type group(all P<0.01). The detection rate of pulmonary ventilation dysfunction in patients with pneumoconiosis was 64.9%. Among them, the detection rate of obstructive, restrictive and mixed ventilation dysfunction were 33.5%, 5.3% and 26.1%, respectively. The detection rates of pulmonary ventilation dysfunction and mixed ventilation dysfunction were higher in complex type group than that in simple type group(82.1% vs 51.0%, 41.7% vs 13.5%, all P<0.01). The severe and extremely severe pulmonary ventilation dysfunction was higher in complex type group than that in simple group(20.2% vs 8.6%, 21.4% vs 3.8%, all P<0.05). CONCLUSION: The types of pulmonary ventilation dysfunction in patients with pneumoconiosis are mainly obstructive and mixed. The pulmonary ventilation dysfunction tends to develop from obstructive to mixed with the increasing severity of pneumoconiosis. The pulmonary ventilation dysfunction in patients with complex type pneumoconiosis is more serious than that in patients with simple type pneumoconiosis. The HRCT image classification is related to the status of patients' pulmonary ventilation dysfunction.

Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency.

Asparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development, seizures, and hyperekplexic activity. Here, we reported a family with compound heterozygous mutations in ASNS (NM_001178076:c.551C>T; c. 944A>C) and established induced pluripotent stem cells (iPSCs) from blood samples. To date, limited functional data have been reported to explain the underlying pathophysiology of ASNSD; therefore, iPSCs from these patients may be powerful tools for studying disease mechanisms.

Generation of GZKHQi001-A and GZWWTi001-A, two induced pluripotent stem cell lines derived from peripheral blood mononuclear cells of Duchenne muscular dystrophy patients.

Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene, which spans ~2.4Mb of genomic sequence at locus Xp21. This mutation results in the loss of the protein dystrophin. DMD patients die in their second or third decade due to either respiratory failure or cardiomyopathy, as the absence of dystrophin leads to myofiber membrane fragility and necrosis, eventually resulting in muscle atrophy and contractures. Currently, there is no effective treatment for DMD, therefore induced pluripotent stem cells from DMD patients would be a powerful tool for studying disease mechanisms.

Listeria monocytogenes meningitis in 17 immunocompetent children / 中华实用儿科临床杂志

Objective To summarize the clinical characteristics and treatment of 17 children with Listeria monocytogenes(LM) meningitis (LMM).Methods Case histories (including clinical features,laboratory examination,treatment,prognosis) of 17 LMM children who were hospitalized at the Department of Infectious Disease of Beijing Children's Hospital from January 1,2013 to December 31,2017 were analyzed retrospectively.The age ranged from 7 months to 10 years,with an average of 3 years and 5 months.Among them,1 case ＜ 1 year old,1-3 years old was most common(10 cases,accounted for 59％),2 cases ＞3-＜6 years old,and 4 cases≥6 years old.Related literatures were summarized.Results All of 17 patients were diagnosed by a positive cerebrospinal fluid culture of LM.All patients had fever.Other symptoms included seizures,headache and vomiting were found during the course of disease;infectious symptoms were relatively mild.The symptoms presented 7 to 50 days before admission.None of the patients was known to have immune deficiencies or any other underlying diseases.Five cases underwent strain typing,all resulting from strain type l/2a.All patients used cephalosporin antibiotics before the diagnosis.After the diagnosis was confirmed,sensitive antibiotics were used according to the drug sensitivity test,including Penicillin,Meropenem,Vancomycin,Linezolid,and Sulfamethoxazole-trimethoprim (SMZ),etc.Out of the 17 patients,2 case had hydrocephalus,of which 1 cases had clinical symptoms,and underwent surgery for a ventriculoperitoneal shunt.All patients were followed up for 1 year,with good prognosis and no neurological sequela.Conclusions LMM is rare in children,especially in children with no immune deficiencies.LMM in children can present with hydrocephalus.Ampicillin remains the first choice of treatment,while meropenem,SMZ and Linezolid can be used as substitution drugs.

Clinical and pathological features of 13 children with Epstein-Barr virus-positive lymphoproliferative disease / 中华儿科杂志

Objective@#To summarize the clinical characteristics, virological and histopathological features, clinical outcome of Epstein-Barr virus-positive lymphoproliferative disease (EBV+LPD) in children.@*Methods@#The clinical and follow-up data of 13 children histopathologically diagnosed as EBV+LPD in the Department of Infectious Disease of Beijing Children's Hospital between January 2011 and December 2016 were summarized.@*Results@#Of the 13 patients, 5 were males and 8 females. The median age of disease onset was 6.0 years (range 1.3 to 15.0 years). The median duration between disease onset and diagnosis was 3 months (range 1 to 24 months). All the 13 patients had fever, 9 cases had hepatosplenomegaly and lymphoadenopathy, 4 cases had only lymphoadenopathy, 7 cases had reduced peripheral blood cells, 7 cases had lung involvement, 3 cases had central nervous system involvement, 3 cases had cardiac involvement, 3 cases had intestinal involvement, 2 cases had skin involvement and 1 case had abdominal mass. All the 13 patients underwent whole blood EBV-DNA PCR examination and the copies ranged from 1×108/L to 1×1011/L. Pathology of lymph node confirmed 6 cases, skin pathology confirmed 2 cases, lung pathology, ileum mucosa pathology, liver pathology, abdominal mass pathology and bone marrow pathology confirmed 1 case each. Among 13 patients, 9 cases presented with EBV-positive T cell lymphoproliferative disease(EBV+ T-LPD), 2 cases with hydroa vacciniforme (HV) and 2 cases with EBV-positive diffuse large B-cell lymphoma (EBV+ DLBCL) . All the patients were followed up for 2 days to 65 months after discharge. Among 9 cases of EBV+T-LPD, 1 case died in a short time, 1 case died after evolved to T-cell lymphoma, 2 cases recovered after hematopoietic stem cell transplantation, 1 case recovered after the chemotherapy of hemophagocytic lymphohistiocytosis(HLH) 2004 protocol and 4 cases were stable now. Of 2 cases of HV patients, 1 case died after evolved to HV like lymphoma and the other still have symptoms. Among 2 cases of EBV+ DLBCL, 1 case died shortly after discharge and the other was still stable after chemotherapy.@*Conclusions@#Chronic recurrent fever, lymphadenopathy and hepatosplenomegaly are the most common clinical manifestations in children with EBV+LPD. Involvement of lung, central nervous system, intestinal tract, skin and other organs are also involved frequently. For children with chronic fever of unknown cause and accompanied by lymphadenopathy and (or) hepatosplenomegaly, EBV + LPD should be considered highly when the whole blood EBV-DNA load continues to increase significantly, early biopsy of the proliferative lesion should be performed to make a definite diagnosis. The prognosis of EBV + LPD is poor, and some evolve to lymphoma, hematopoietic stem cell transplantation is an effective way to treat this disease.

Clinical characteristics and prognosis of disseminated cryptococcosis in children / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics and prognosis of disseminated cryptococcosis in children.Methods The data of disseminated cryptococcosis inpatients were reviewed retrospectively at Beijing Children's Hospital,Capital Medical University,from January 2002 to September 2014.The demographic data,clinical manifestations,laboratory findings,imaging,antifungal treatments and outcomes of all the patients were analyzed.Results Overall 25 children with disseminated cryptococcosis were enrolled including 17 boys(68.0％).The average age was 7 years old.Four cases (16.0％) had underlying conditions,among them 1 case had human immunodeficiency virus(HIV)-positive.The median time to diagnosis was 32 (23-47) days,44.0％ of the patients (11 cases) were misdiagnosed,and 8 cases misdiagnosed as tuberculosis.All patients had fever.Other common clinical manifestations included cough (16 cases),headache (10 cases),vomiting (10 cases),altered mental status (6 cases) and stomachache (6 cases).Respiratory system involvement was seen in all cases,central nervous system was involved in 18 cases,other organ involvement included lymph nodes,spleen,liver,kidney,skin,skeleton and costicartilage.Amphotericin B (AmB) + Fluconazole (Flu) ± 5-flucytosine (5-FC) was the most common therapy (15 cases),Flu ± 5-FC for 6 cases,AmB ± 5-FC for 2 cases,Voricanazole (VOR) for 1 case.Sixteen cases (66.7％) got recovery/improved on discharge,8 cases (33.3％) rejected to the advise and discharged with treatment failure,and the HIV-infected patient transferred to a special hospital.Fifteen patients (60.0％) were followed up,and 13 cases (87.0％) showed recovery,but 2 died in the long-term prognosis.Conclusions Disseminated cryptococcosis in children is more common in school-age boys.Most patients are without underlying conditions.Disseminated cryptococcosis can cause multiple organ damage.Patients with prolonged fever,cough,headache,with or without underlying diseases,can be suspected as disseminated cryptococcosis.Blood and cerebrospinal fluid culture for fungus,cryptococcal antigen should be performed for early diagnosis and treatment.

Construction and screening effective sequence of shRNA targeting human trefoil factor 3 / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Trefoil factor 3 plays a pivot role in oncogenic transformation, growth and metastatic extension of solid tumours besides mucosal protection. We screened the best siRNA sequence targeting human TFF3 by the transient-transfection of the lentiviral mediated shRNA into thyroid carcinoma K1 cells which secrete TFF3 themselves.@*METHOD@#Four siRNA transcription template hairpin structure target potential sites in human TFF3 mRNA sequence(132,170,258 and 537 bp,seperately) were selected and synthesized,as well as one negative shRNA(shRNAC). After annealing in vitro, insert pLVX-shRNA-puro construct recombinant plasmid, then enzyme digestion and sequencing analysis. The lentiviral-shRNAs were transient-transfected into K1 cells. TFF3 mRNA and protein levels were test by real-time PCR and western blot respectively in K1 cells at 48h post transient-transfected.@*RESULT@#Genetic mutations in two sequences of shRNA1~2, so the follow-up study terminated. The TFF3 expression were obviously inhibited in K1 cells at 48 hours post transient-transfected of shRNA3 and shRNA4. TFF3 (258-276) showed the highest silencing efficiency (TFF3 mRNA reduced 60.67% and TFF3 protein reduced 56.44%, P < 0.01) when the transfection efficiency was 76.83%.@*CONCLUSION@#pLVX-shRNA-puro-TFF3 expression plamid were successfully constructed and the highest efficiency sequences were screened. All these laid a foundation for further study about the function of TFF3 gene.

Clinical features and antibiotic resistance of Escherichia coli bloodstream infections in children / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze risk factors, clinical features, outcomes and antibiotic resistance of Escherichia coli(E.coli) causing bloodstream infections in children.</p><p><b>METHOD</b>All inpatients with E. coli positive blood culture in Beijing Children's Hospital from January 2012 to May 2014 were enrolled; 112 cases were included, 66 cases (58.9%) were male, and 46 cases(41.1%) were female. Age range was 2 days to 16 years. Among them, 43 cases (38.4%) were neonates, 19 cases (17.0%) aged from 1 month to 1 year, 14 cases (12.5%) were 1-3 years old, and 36 cases (32.1%) were over three years old. We analyzed the divisions to which the patients were admitted, source of infection, underlying diseases, clinical characteristics, antibiotic resistance, and treatment outcomes, etc.</p><p><b>RESULT</b>Forty-six cases (41.1%) were treated in division of hematology, 42 (37.5%) in neonatology, 9 (8.0%) in internal medicine, 8 (7.1%) in surgery, and 7 (6.3%) in pediatric intensive care unit. Sixty-five cases(58.0%) had underlying diseases. Fever was the most frequently presented symptom, as it was seen in 91 cases (81.3%); 52 cases(46.4%) had respiratory symptoms. Among these, 43 cases had pneumonia, 3 cases had respiratory failure, 3 cases were diagnosed as upper respiratory tract infection, 2 had pulmonary hemorrhage and 1 case had bronchitis. Twenty-six cases (23.2%)were diagnosed as severe sepsis and purulent meningitis separately, 14 cases(12.5%) had urinary tract infection. There were 73 (65.2%) strains inducing extended spectrum β-lactamases (ESBLs), of which 6 (8.2%) and 10 (13.7%) strains were resistant to amikacin and carbapenems respectively. Resistance rate against other antimicrobial agents varied from 64.6% to 100%.</p><p><b>OUTCOMES</b>92 (82.1%) cases were cured or had improvement while 20 patients (17.9%) died or could not be cured at the end of treatment. Positive ESBLs (χ(2) = 6.609, P = 0.010), being complicated with severe sepsis (χ(2) = 40.253, P = 0.000) and requiring mechanical ventilation (χ(2) = 34.441, P = 0.000) indicate poor prognosis.</p><p><b>CONCLUSION</b>Patients with underlying diseases and newborns are susceptible to E. coli bloodstream infection. ESBLs infection, severe sepsis and mechanical ventilation indicate poor prognosis in E. coli blood stream infection. Clinicians may use carbapenems as empirical treatment for ESBLs infection. There may be carbapenem-resistant enterobacteriaceae strains infection if patients receiving treatment with carbapenems have no response.</p>

Histiocytic necrotizing lymphadenitis combined with central nervous system damage in 4 children / 中华实用儿科临床杂志

Objective To summarize the clinical features of histiocytic necrotizing lymphadenitis (HNL) and the lesion of central neural system in children.Methods Data of the 4 cases in Beijing Children's Hospital from January 2009 to December 2014 were reviewed and analyzed,as well as other files of 12 patients from PubMed,CNKI,etc.Results All 4 patients mentioned above started from fever and lymphadenopathy,3 cases had headache,2 cases of them experienced altered mental status,and 1 case had cclampsia.The findings of cerebrospinal fluid (CSF) test was similar to viral encephalitis;2 cases had normal magnetic resonance imaging (MRI) result;1 case with MRI test indicated brain white matter diseases with extensive intracerebral hemorrhage,and 1 case had small range of encephalomalacia in left cerebral hemisphere and cerebral dura mater.Through CSF examination,2 cases were positive to Epstein-Barr viral capsid antigen (EBV-VCA)-IgM,while the 2 other cases had no positive trace of EBV-VCA-IgM.Lymph node biopsy was in accordance with HNL typical changes,1 case was positive for Epstein-Barr virus encoded RNA (EBER).Twelve cases in previous literatures were diagnosed as HNL by lymph node biopsy,and their clinical features of central nervous system were headache and altered mental status.There was no change in pathogen.It is also found that the cases in which CSF was performed had shown being negative.CT/MRI image descriptions involved in temporosphenoid lobe,hippocampus,caudate lobe,leptomeninges,etc.Conclusions HNL can be complicated with lesions of the central nervous system,characterized by aseptic meningitis,encephalitis,etc.The prognosis of most cases is good,a few can have neurological sequelae.HNL may relapse,so long-term follow-up is ne-cessary.Epstein-Barr virus in HNL and lesion of central nervous system mechanism still needs further research.

Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

OBJECTIVES: Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. METHODS: Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. RESULTS: A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. CONCLUSIONS: This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes.

Central nervous system infection caused by Exophiala dermatitidis in a case and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To summarize the clinical features, imaging characteristics, diagnosis and treatment of a case with central nervous system infection caused by Exophiala dermatitidis, as well as to review the related literature.</p><p><b>METHOD</b>Associated literature and clinical data of an 8-year-old boy who was diagnosed as central nervous system infection caused by Exophiala dermatitidis in Beijing Children's Hospital Affiliated to Capital Medical University and hospitalized twice from 2012 to 2014 were analyzed retrospectively.</p><p><b>RESULT</b>The boy was 8 years old with the chief complaint of dizziness for 2 months, intermittent fever for 1 month accompanied with spasm twice. He was diagnosed as bile ducts space-occupying lesions 2 years ago, when the pathological diagnosis was fungal infection. The boy was treated with irregular anti-fungal therapy. Then the boy developed nervous symptoms, impaired consciousness and abnormal physical activity that developed gradually. After hospitalization the cerebral MRI of the boy showed space-occupying lesions accompanied with edema of surrounding area. Filamentous fungi was found by brain biopsy, which was culture positive for Exophiala dermatitidis. After diagnosis the boy was treated with amphotericin B (AMB), voriconazole and 5-Fu, as well as symptomatic treatment. The state of the boy was improved gradually. Two months later, the boy could communicate with others normally and move personally. The lesions and edema seen on the MRI was decreased moderately. Accordingly, the boy was treated with oral voriconazole maintenance treatment for about 1 year and 4 months after discharge. During this period, the state of him was stable without symptoms. The lesions shown by MRI did not disappear but decreased on regular examination. However, recently the disease of the boy progressed again, with dizziness, neck pain, headache and progressive nervous symptoms (intermittent spasm, inability to cough, and impaired consciousness). The boy died at last, even with the active treatment at the second hospitalization. Exophiala dermatitidis was culture-positive again in his CSF, and was confirmed by PCR successfully.</p><p><b>CONCLUSION</b>The central nervous system infection caused by Exophiala dermatitidis is rare. Clinical features of this disease were similar to those of other fungal CNS infection, cerebral MRI of which could show the similar lumpy lesions. Diagnosis of the disease should be based on pathology and culture.</p>

Value of VEGF-C, VEGF-D and VEGFR-3 levels combined with serum TSH in diagnosis of papillary thyroid carcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate serum vascular endothelial growth factor-C (VEGF-C), VEGF-D and VEGFR-3 levels in patients with papillary thyroid carcinoma (PTC) and analyze their relation with the clinicopathological and thyroid function of the patients.</p><p><b>METHODS</b>Serum samples and the data of thyroid function were collected from 55 patients with PTC and 24 with benign thyroid tumor (BT). ELISA was used to detect VEGF-C/D and VEGFR-3 concentration in the serum samples and their relation with the thyroid function was analyzed.</p><p><b>RESULTS</b>The VEGF-C and VEGFR-3 levels were significantly higher in PTC group than in BT group (P<0.05), but VEGF-D level was comparable between them (P>0.05). In PTC patients, the elevation of serum VEGF-C and VEGFR-3 levels was associated with an advanced clinical stage (III-IV), elevated thyroid-stimulating hormone (TSH) level, an age over 45 years, and a tumor diameter exceeding 2 cm (P<0.05 or P<0.01). Patients with lymph node metastasis had significantly higher VEGF-C level but lower VEGF-3 level than those without metastasis regardless of gender. Serum VEGF-D level was higher in PTC patients with lymph node metastasis (P<0.05) and elevated TSH level (P<0.01) without association with the clinical stage, tumor diameter, age, or gender. The area under ROC curve (AUC) of serum VEGF-C, VEGFR-3 and TSH was 0.803, 0.734 and 0.707 respectively (P<0.01), and that of VEGF-D was 0.556 (P>0.05); when combined, serum VEGF-C, VEGFR-3 and TSH showed an AUC of 0.862 (P<0.01).</p><p><b>CONCLUSION</b>Detecting serum VEGF-C and VEGFR-3 levels combined with TSH may enhance the early diagnosis rate of papillary thyroid carcinoma.</p>

Human µ-opioid receptor A118G polymorphism affects epidural patient-controlled analgesia with fentanyl / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate whether A118G single nucleotide polymorphisms of the µ-opioid receptor (OPRM1) affects epidural patient-controlled analgesia with fentanyl after caesarean section.</p><p><b>METHODS</b>A total of 100 pregnant women (ASA class I or II) scheduled for elective caesarean section were enrolled in this study. All the patients received spinal-epidural anesthesia and were screened for blood A118G polymorphism. Epidural patient-controlled analgesia with fentanyl was provided postoperatively. The pain scores, incidence of nausea and vomiting, and total self-administered epidural fentanyl dose within 48 h postoperatively were recorded.</p><p><b>RESULTS</b>Ninety-six patients were finally included in this study. The percentages of the genotypes AA, AG, and GG were 36.5% (35 cases), 46.9% (45 cases), and 16.7% (16 cases), respectively. At 12 and 24 h postoperatively, the pain scores and the total fentanyl dose administered were significantly higher in group GG than in groups AA and AG.</p><p><b>CONCLUSION</b>A118G single nucleotide polymorphism affects pain relief and total fentanyl dose administered in epidural patient-controlled analgesia after caesarean section. G118 homozygotes have a poorer response to fentanyl than A118 homozygotes or heterozygotes.</p>

8-Isoprostane in Exhaled Breath Condensate of Patients with Asthma / 中国呼吸与危重监护杂志

Objective To invesitgate the relationship between 8-iseprostane (8-iso-PG) level in exhaled breath condensates (EBCs) and severity of asthma and explore the role of 8-iso-PG in asthma evaluation and monitoring.Methods Fifty-nine patients with asthma were enrolled.In which 15 eases were acute exacerbation, 13 eases were mild intermittent, 15 eases were mild persistent, and 16 eases were mederate-to-severe persistent.Thirteen healthy volunteers were recruited as control.EBCs were collected using EeoSereen system.The 8-iso-PG levels in EBCs were measured by a specific enzyme immunoassay.The patients with mild intermittent asthma were treated with inhaled corticosteroid (ICS) for one month and their EBCs were recollected for 8-iso-PG measurement.Results Exhaled 8-iso-PG levels were obviously increased in the patients with acute asthma compared with those chronic asthmatics [(47.2±6.8) pg/mL vs (24.5±12.0) pg/mL, P < 0.01].In the chronic persistent asthma, the levels were significantly higher in patients with mild persistent and moderate-to-severe asthma [(17.9±1.2) pg/mL and (39.7±4.0) pg/mL, P <0.01].While 8-iso-PG level did not differ significantly in intermittent asthma [(13.5±1.1) pg/mL] compared with the control subjects (P > 0.05).After one-month ICS treatment the 8-iso-PG level in the patients with mild intermittent asthma did not change significantly although the ACT score improved.Conclusions 8-iso-PG levels in EBC are associated with the severity of asthma,implicating 8-iso-PG may be useful in monitoring airway oxidative stress in asthma.ICS treatment is incapable of decreasing the 8-iso-PG,suggesting the ICS has minor impact on oxidative stress.

Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy / 北京大学学报(医学版)

Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.

Dynamic Study of Fas Expression and Cell Apoptosis in the Cerebral Ischemic Tissues / 中国医科大学学报

Objective: Our purpose was to study the relationship between the Fas antigen expression and neuron apoptosis after cerebral ischemia. Methods: We detected the Fas antigen expression and neuron apoptosis dynamically in the animal models with cerebral ischemia by immunohistochemistry and terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL) method. Results: Fas antigen was positive after 30 minutes of ischemia and reached peak at 60 minutes. At the 24th hour, it began to decrease, and negative on the 3th day. While the positive cell for TUNEL method appeared after 60 minutes of ischemia, reached peak on 3 day, and decreased on 7 day. Conclusion: Neuron apoptosis after cerebral ischemia is closely related to the over-expression of Fas antigen.

The study of platelet cytoplasmic ionized calcium concentration and calmodulin content in acute cerebral infarction / 临床神经病学杂志

We measured baseline and activated (stimulated by 2 ug/ml collagen ) cytoplasmic ionozed calcium concentrations ([Ca2+]i. [Ca2+ ]ic) in fura-2 loaded platelet to 31 patients with acute cerebral infarction and. 23 healthy controls. We also measured platelet calmodulin (CaM) content from part of the patients and controls. The result showed that [Ca2+]i , [Ca2+]ic and CaM were higher in patients (P