Objective To study the clinical characteristics,muscle pathological features,diagnosis and prognosis of TK2-related mitochondrial DNA depletion syndrome(MDS).Methods Clinical and laboratory data of 2 cases of TK2-related myopathic MDS were reported.And data of previously reported 58 TK2-related MDS cases were reviewed.Results Total 60 patients consisted of 35 male and 25 female.The age of onset ranged from the birth to the age of 74 years old,and 54 of the patients were attacked at the age younger than 3 years old.Muscle weakness and hypotonia were detected in all patients,with 40 patients(including the newly diagnosed 2 cases) manifested as pure myopathic form,and 20 patients with other multiple organs involvement.Serum creatine kinase was mildly increased (211-6 500 IU/L) in 53 patients.Elevated serum lactic acid level (2.3-12.0 mmol/L)was observed in 24 patients.Muscle biopsy was available from 55 patients,and ragged red fibers and/or cytochrome C oxidase (COX)-negative fibers were detected in 48 out of them.Nine out of 11 patients received electronic microscope study showed proliferation of abnormal mitochondria.Respiratory chain enzymatic activities in skeletal muscle were reduced in 31 out of 33 patients.Marked mtDNA content reduction was observed in 36 out of 41 patients (4％-25％ of age-and tissue-matched controls).A total of 42 TK2 mutations were found in 60 patients,including 2 novel mutations c.923A ＞ G and c.619-2A ＞ T in this study.Conclusions The most common clinical manifestations of TK2-related MDS are severely,rapidly progressing myopathy with infantile or early childhood onset.As the detection rate of characteristic pathologic features in muscle is high,muscle biopsy is important for the diagnosis of TK2-related MDS.

Objective To assess the proficiency of water monitoring laboratory at rural, county, and provincial levels in Guangdong province, to ensure the province's drinking water monitoring results accurate and reliable. Methods State quality of certified reference materials as water arsenic, fluoride and chloride of 90 copies each were numbered and distributed to 90 monitoring laboratories in the province for testing, The measurement results of the participatory labs were evaluated through normative values and expanded uncertainty, and were compared with those of robust statistics method. Results All participatory labs had timely feedback of their measurement results. The qualified rate was higher when arsenic was tested by hydride generation atomic fluorescence spectrometry and zinc-new silver salt of sulfuric acid spectrophotometric system, while fluoride and chloride by ion chromatography. The average qualified rates of water arsenic, fluoride and chloride of the province's rural drinking water quality monitoring laboratory were 66% (59/90), 72% (65/90) and 72% (65/90), respectively.Seven participatory labs failed the proficiency testing of all three analytes and unqualified rate was 7.8% (7/90)among the ninety participated monitoring labs. The qualified rates of robust statistics method for arsenic fluoride and chloride were greater than those evaluated by the expanded uncertainty, and large deviations with small sample sizes. Conclusions The testing ability of drink-water monitoring labs in Guangdong province has improved.However, by comparison with the requirements of national quality control and testing skills, there is still a gap. It is suggested that internal quality control be included in routine inspeetion to improve laboratory testing technology.

Objective To investigate the value of the Wells score and D-dimer assay in assisting pulmonary perfusion imaging (PPI) for the diagnosis of acute pulmonary embolism (APE). Methods One hundred twenty-one patients with suspected APE were studied from January, 2006 to December, 2008. All patients underwent the Wells score, the quantitative D-dimer assay, chest X-ray photography, and PPI. The diagnostic sensitivity, specificity, positive predictive value and negative predictive value of PPI with the assistance of Wells score and D-dimer assay were calculated. Results Fifty (41.3%) patients were diagnosed with APE. PPI combined with chest X-ray photography (Q/X scan) showed positive results in 49 patients. The sensitivity, specificity, positive predictive value and negative predictive value of the Q/X scan were 86.0% (43/50), 91.5% (65/71), 87.8% (43/49) and 90.3% (65/72), respectively. With assistance of Wells score >4 and D-dimer≥0. 5 mg/L, Q/X scan had a positive predictive value of 100.0% (29/29), for patients with Wells score ≤4 and D-dimer<0.5 mg/L, the negative predictive value for Q/X scan was 100.0% (41/41). Conclusion Combined with Wells score and D-dimer assay, PPI can make accurate diagnosis of APE.

BACKGROUND: Few studies have reported the effects of early tracheotomy in acute severe asthmatic patients. We report two patients with acute severe asthma who were successfully treated with early tracheotomy. METHODS: The two patients with acute severe asthma were retrospectively reviewed. They had been treated at the Department of Emergency and Critical Care, Renji Hospital, Shanghai Jiaotong University School of Medicine. RESULTS: They developed progressively hypercapnia and severe acidosis, and were not improved after conventional therapies. Early tracheotomy after mechanical ventilation decreased airway resistance and work of breathing, and corrected hypercapnia and acidosis. Adequate gas exchange was maintained after tracheotomy. The two patients were subsequently weaned from mechanical ventilation and discharged. CONCLUSION: Early tracheotomy could be a valuable approach in certain patients with severe asthma.

OBJECTIVETo explore the efficacy, time to disease progression (TTP), overall survival (OS) and toxicity of paclitaxel liposome versus paclitaxel combined with 5-fluorouracil (5-Fu) for patients with advanced gastric cancer.

METHODSThe therapeutic efficacy of chemotherapy with either of the two regimens for 67 cases of naïve advanced gastric cancer was analyzed. Among them, 31 patients in the paclitaxel liposome-5-Fu group received paclitaxel liposome 175 mg/m(2) d1, CF 200 mg/m(2) d1, 5-Fu 2.6 g/m(2) civ. 46 hours, 21 days as one cycle, and 34 patients in the paclitaxel-5-Fu group received paclitaxel 175 mg/m(2) d1, CF 200 mg/m(2) d1, 5-Fu 2.6 g/m(2) civ. 46 hours, 21 days as one cycle.

RESULTSThe objective response rate was 54.8% in the paclitaxel liposome group and 44.1% in the paclitaxel group (P = 0.388). The median time to progression was 5.10 months vs. 5.20 months (P = 0.266) and the median survival time was 10.07 months vs. 8.97 months (P = 0.186). The most frequent side-effects were nausea, vomit and hematological toxicities. The rates of grade III-IV nausea and vomit were 16.1% and 50.0% (P = 0.038), muscle and joint pain were 9.7% and 29.4% (P = 0.047).

CONCLUSIONBoth regimens are effective in the treatment of advanced gastric cancer. However, less adverse effects occur in the paclitaxel liposome group.

Adult ; Antineoplastic Agents, Phytogenic ; administration & dosage ; adverse effects ; Antineoplastic Combined Chemotherapy Protocols ; adverse effects ; therapeutic use ; Disease Progression ; Female ; Fluorouracil ; administration & dosage ; Follow-Up Studies ; Humans ; Liposomes ; Male ; Nausea ; chemically induced ; Paclitaxel ; administration & dosage ; adverse effects ; Remission Induction ; Stomach Neoplasms ; drug therapy ; pathology ; Survival Rate ; Vomiting ; chemically induced

OBJECTIVETo summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.

METHODBy a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.

RESULT(1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.

CONCLUSIONThe prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

Anticonvulsants ; therapeutic use ; Child ; Epilepsy ; complications ; drug therapy ; epidemiology ; Exons ; Genotype ; Humans ; Intellectual Disability ; etiology ; Male ; Muscular Dystrophy, Duchenne ; complications ; genetics ; Mutation ; Phenotype ; Prevalence ; Retrospective Studies ; Seizures ; Sequence Deletion

OBJECTIVELysosomal storage diseases are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. The manifestations of lysosomal storage diseases are complicated due to different enzyme deficiency. It has been reported that a range of metabolic diseases resulting in abnormal accumulation of metabolic byproducts may exhibit abnormal cytoplasmic vacuolation of lymphocytes. The aim of this study was to elicit the usefulness of vacuolated peripheral lymphocytes detection in screening and diagnosis of lysosomal storage diseases.

METHODClinical data of 42 patients who underwent microscopic and electron microscopic examination of peripheral blood specimens in our department were retrospectively evaluated between January 2008 and December 2009.

RESULTForty-two patients with the suspected lysosomal storage diseases were included, these patients presented with motor and developmental retardation and/or regression. Seizure occurred in 32 patients. Hepatosplenomegaly were found in 4 patients. Three patients presented with declined visual acuity. Atrophy and/or abnormal signals were detected on cranial CT/MRI images in 24 patients. Blood biochemical tests were normal. Serum levels of ammonia, lactic acid and pyruvate were normal. Serum amino acid profiles and urinary organic acid profiles were normal. Serum fatty acid profiles were normal. Vacuolated lymphocytes were detected on microscopic examination of blood film in 14 patients, and 8 of these patients were confirmed to have lysosomal storage disease. Curvilinear body was found on electronic microscopic examination of peripheral lymphocytes specimens in 4 patients, confirming the diagnosis of neuronal ceroid lipofuscinosis. In 3 of these 4 patients, curvilinear body were also found on electronic microscopic examination of skin and/or muscle specimens. Enzyme analysis confirmed the diagnosis of metachromatic leukodystrophy in one patient and Pompe's disease in another patient. Typical pathological changes were found on the examination of bone marrow in 2 patients with normal acid sphingomyelinase activity. So the patients were diagnosed with Niemann-Pick disease type C. The diagnosis of other 6 patients with vacuolated lymphocytes was unknown.

CONCLUSIONBecause of its usefulness and minimal invasiveness, vacuolated peripheral lymphocytes examination should be a screening test for lysosomal storage disease. As for patients with suspected neuronal ceroid lipofuscinosis, electron microscopic examination of peripheral lymphocyte specimens may provide specific clues to the final diagnosis.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lymphocytes ; pathology ; Lysosomal Storage Diseases ; blood ; diagnosis ; pathology ; Male ; Microscopy, Electron ; Retrospective Studies ; Vacuoles

The aim of this study is to construct the expression vector of zot gene of Vibrio cholerae and to realize the expression of zot gene of Vibrio cholerae in E.coli and study the biological activity of its recombinant expression product.In order to express zot protein in E.coli,the full-length open reading frame of zot was amplified by PCR from the standard strains of Vibrio cholerae MO45 genome DNA.The PCR product was cloned into prokaryotic expression vector pET-32a(+) with restriction enaymes Bam H I and XhoI.The recombinant vector pET-32a(+)-zot was transformed into E.coli BL21 (DE3) and expressed by IPTG induction.The zot fusion protein was detected by SDS-PAGE and Western blotting and purified by Ni-NTA affinity chromatography.After expression and purification,the recombinant expression protein played as a target for human small intestinal epithelial cells.Restriction endonuclease digestion,PCR and DNA sequencing analysis showed that the zot gene of 1 200 bp was amplified from Vibrio cholerae DNA,and the recombinant plasmid pET-32a(+)-zot was constructed and detected its expression in prokaryotic cell successfully with SDS-PAGE and Western blot techniques.The zot recombinant protein was successfully expressed and purified.The purified zot recombinant protein can cause human intestinal epithelial cells apoptosis.

Objective To explore the self-face recognition and its relationship to empathy in patients with schizophrenia.Methods Sixty-two schizophrenic patients and fifty -four healthy subjects were assessed with the self-face recognition task (SFRT) and the interpersonal reactivity index-C (IRI-C).Results The SFRT reaction time in the patients group( (2188 ± 1138) ms) was significantly longer than that in the control group( ( 1152 ± 326) ms) (P ＜ 0.01 ) ;the accuracy in the patients group ( (80 ± 16) ％ ) was significantly lower than that in the control group ( (88 ± 6) ％ ) (P ＜ 0.01 ).The IRI-C total scores,the subscores in perspective taking,the subscores in fantasy and empathic concern of IRI-C were significantly lower in the patients group(respectively(44.82 ± 10.50),(8.98 ± 3.56),( 11.87 ± 4.38 ),( 14.73 ± 4.00) ) than those in the control group ( respectively (49.85 ± 10.28),( 10.78 ± 3.86),( 14.98 ± 6.12),( 17.39 ± 4.56) ) ; the subscore in personal distress of IRI-C in the patients group(9.37 ± 5.12) was significantly higher than those in the control group(6.52 ± 3.89) ( P＜ 0.01 ).There was significant positive correlation between the accuracy for self-face recognition in SFRT and the subscore in fantasy of IRI-C ( r =0.322,P ＜ 0.05 ),the reaction time of SFRT had significantly positive correlation with the subscore in personal distress.Conclusion Schizophren patients have general impairments of self-face recognition and empathic abilities,and the self-face recognition is related to the empathic abilities.

Objective To assess the accuracy of puncture guided by intelligent positioning (IP) system using magnetic navigation.Methods Five prepared targeted models at three certain depth (<50 mm, samll depth;50-100 mm,medium depth;>100 mm,large depth) underwent puncture guided by intelligent positioning system using IP and conventional ultrasound (US),respectively.Puncture errors,the number of attempt and spent time were recorded and compared .Results For the targets at small,medium and large depth,the errors of IP was (1.88 ±1.18),(1.56 ±0.56) and (3.99 ±1.10) cm,and the errors of conventional US was (4.52 ±2.23),(4.49 ±1.73) and (3.93 ±2.19) cm respectively.The errors of IP were significantly less than those of conventional US at small(t=-2.345,P=0.047) and medium(t=-3.608,P=0.007) depth,but there was no statistically significant difference at large depth (t=0.058,P=0.955). In the IP group,there were statistically significant differences for puncture errors between the small and large depth,as well as between medium and large depth ( F =8.923,P =0.010).There was no statistically significant difference for the errors of IP between the small and medium depth (t=-1.927,P=0.501).For the targets at small,medium and large depth,each puncture was performed in single attempt when guided by IP and in 2,1 and 2 attempt when guided by conventional US .At small and large depth,the numbers of attempt of IP were significantly less than those of conventional US (U=-2.372,P=0.018;U=-2.39, P=0.032).Whereas at medium depth,there was no significant difference (U=-1.000,P=0.690).For the targets at small,medium and large depth,each puncture spent (21.20 ±2.39)s, (27.00 ±4.00)s and (31.80 ±3.83)s when guided by IP,and(45.20 ±9.68),(26.80 ±4.21) and (54.60 ±13.48)s when guided by conventional US.The spent time of IP was less than that with conventional US for small and large depth targets(t =-5.383, P =0.001;t =-3.637, P =0.007).Whereas no statistically significant difference was found for the medium depth target (t=0.077,P=0.916).Conclusion In comparison with conventional US,IP system guided puncture is more accurate and the number of attempt and spent time is less .