The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
Acute Kidney Injury ; etiology ; Female ; Humans ; Hyperoxaluria, Primary ; complications ; Infant ; Mutation ; Oliguria ; etiology ; Transaminases ; genetics

A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia. The boy died. Blood and urinary organic acid screening and gene detection confirmed that the boy had late-onset glutaric aciduria type II (GAIIc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect. GAIIc is an inherited metabolic disease with a low incidence, resulting in a high misdiagnosis rate. GAIIc should be considered for children with recurrent weakness or reduced activity endurance, hypoglycemia, and marked liver enlargement with abnormal liver function. Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAIIc, and ETFDH gene analysis helps to make a confirmed diagnosis.
Child ; Hepatomegaly ; etiology ; Humans ; Hypoglycemia ; etiology ; Male ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; diagnosis ; Muscle Weakness ; etiology

Objective To characterize the antibiotic resistance,homology and carbapenemase genotypes of imipenem resistant Acinetobac1ter baumannii isolated from our hospital,and analyze the clonal relatedness of the test strains.Methods Ninety five strains of imipenem resistant A.baumannii were isolated from August 2003 to December 2004 in the First Affiliated Hospital, College of Medicine,Zhejiang University.The MICs of 16 antimicrobial agents against these strains were determined by agar dilution and E-test method.The homology of these isolates was analyzed by pulse-field gel electrophoresis(PFGE).The coding gene of carbapenemases was amplified.PCR products were purified,cloned and sequenced.Plasmid DNA was extracted and purified.Conjugation and Southern blot were performed to locate the position of oxa 23 gene.Results The resistance rates to ampicillin-sulbactam and cefoperazone sulhactam were 67.9% and 30.2%.Polymyxin E had the lowest resistance rate of 17%. The resistance rate to other antimicrobial agents was higher than 90%.The 95 strains,isolated from 10 clinical units,were classified into 6 clones.Clones A and B were predominant clones.All strains produced carbapenemases which were confirmed as OXA 23 by PCR and sequencing analysis.No plasmid was extracted and conjugation was not successful.Southern bolt showed that oxa-23 gene was located on Apal-digested chromosomal segments about 220 kb and 200 kb in Clones A and B,re spectively.Conclusions OXA 23-producing A.baumannii has become one of the most important multi-resistant pathogens in our hospital.Clones A and B have widely spread in our hospital.Oxa-23 gene is located on chromosomal DNA.

Objective To investigate the resistant mechanism of imipenem-resistant K. pneumoniae.Methods The minimal inhibitive concentrations (MICs) of the antimicrobial agents were determined by Etest.Isoelectric focusing electrophoresis (IEF),plasmid extraction,conjugation, transformation,PCR amplification,cloning and sequencing were carried out for analyzing the encoding gene of ?-1actamases.Results Three kinds of ?-1actamases were detected with pIs of 7.2,6.7,and 5.4.in a clinical strain of K.pneumoniae.These ?-1actamases were TEM-I (pI,5.4),SHV-12 (pI,8.2) and KPC-2 ( pI,6.7 ) confirmed by sequencing of the PCR products.Only one band of ?-1actamase with pI 6.7 was displayed in the transformant.A 1500 bp segment,which contained the KPC-2 gene confirmed by nucleotide sequence analysis,was cloned from a 60 000 bp plasmid of the transformant.Conclusion The strain of K.pneumoniae resistant to imipenem produces a plasmid-mediated carbapenemase KPC-2 which belongs to Bush group 2f,class A ?-1actamase.

OBJECTIVETo study the effects of reconstruction of lost occlusal support on the biochemical changes of nervous system.

METHODSThe changes of central nervous system metabolic compounds within hippocampus body were measured with proton magnetic resonance spectroscopy ((1)HMRS) before and after denture restoration (six weeks) in seven patients with prolonged loss of occlusal support.

RESULTS(1)HMRS indicated that Cho/Cr decreased by 11.9% (P < 0.05) six weeks after denture restoration, MI/Cr decreased by 28.8% (P < 0.05), and NAA/CR increased by 4.8% (P > 0.05) within hippocampus body.

CONCLUSIONSRecovery of occlusal support facilitates improvement of neuron functions in patients' hippocampus, which may help improve the functions of nervous system.

Aged ; Aged, 80 and over ; Denture, Partial, Removable ; Female ; Hippocampus ; metabolism ; Humans ; Magnetic Resonance Spectroscopy ; Male ; Middle Aged ; Tooth Loss ; metabolism ; therapy

Objective To evaluate the effects of unsupported arm exercise in patients with chronic obstructive pulmonary disease.Methods Databases such as Cochrane Library,PubMed,EMbase,CNKI and WanFang were searched to recruit eligible randomized controlled trials.The effects of unsupported arm exercise was determined by meta-analysis with RevMan 5.3 after data extraction and quality appraisal.Results Totally 11 RCTs were finally recruited.The results of meta-analysis supported the effectiveness of unsupported arm exercise on improving dyspnea in patients with chronic obstructive pulmonary disease[WMD=-0.76,95％CI(-l.33,-0.20),P=0.008],as well as the effectiveness on enhancing upper arm activity [WMD=25.75,95％CI (10.45,41.05),P=0.0010] and exercise tolerance [WMD=33.98,95％CI (10.20,57.76),P=-0.005].While it failed to support the effectiveness on improving lung function and quality of life(P＞0.05).Conclusion Unsupported arm exercise is effective to improve dyspnea,enhance upper arm activity and exercise tolerance,and is worth introducing in rehabilitation exercise in patients with chronic obstructive pulmonary disease.However,the effects on lung function,quality of life are still inconclusive.Strict designed,multi-centered RCTs with large sample size are needed in the future to gain reliable effectiveness of unsupported arm exercise.

OBJECTIVETo investigate the initial changes in the gut microenvironment that accompany intestinal endotoxemia related to alcoholic fatty liver disease (ALD) in order to explore the potential initiating factors and to observe the effect of probiotic therapy on these factors.

METHODSFifty Sprague-Dawley male rats were randomly divided into an ALD model group (alcoholic intragastric administration), an intervention group (ALD with probiotic intragastric administration), and a control group (physiological saline intragastric administration). Histological changes of the liver were evaluated using hematoxylin-eosin staining and light microscopy. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST) and triglycerides (TG), and plasma endotoxin and coli bacillus were determined. The structural integrity of intestinal mucosa and tight junctions were observed by transmission electron microscopy. Occludin protein expression in intestinal epithelial cells was detected by immunohistochemistry.

RESULTSAfter four weeks, the three groups showed significant differences in the plasma endotoxin levels [control: (0.67+/-0.14) pg/ml, model: (4.42+/-1.28) pg/ml, and intervention: (2.88+/-0.83) pg/ml; F = 27.288, P = 0.000] and numbers of Escherichia coli [control: (2.31+/-0.39) lg3/ml, model: (3.23+/-0.41) lg3/ml, and intervention: (2.24+/-0.44) lg3/ml; F = 10.692, P = 0.001]. The plasma endotoxin level and E. coli number were significantly higher in the model group than in the control group and the intervention group (all P less than 0.05). The three groups showed no significant differences in the levels of ALT, AST, and TG at four weeks. After eight weeks, however, all three serum markers were significantly different between the three groups [ALT: control: (62.33+/-7.12) U/L, model: (95.50+/-8.73) U/L, and intervention: (81.33+/-6.19) U/L; F = 18.051, P = 0.000]; [AST: control: (90.50+/-10.67) U/L, model: (130.00+/-14.91) U/L, and intervention: (110.33+/-7.26) U/L; F = 30.170, P = 0.000]; [TG: control: (0.84+/-0.84) mmol/L, model: (1.40+/-0.17) mmol/L, and intervention: (1.10+/-0.17) mmol/L; F = 10.592, P = 0.001]. In addition, the three groups showed significant differences in E. coli number [control: (2.23+/-0.46) lg3/ml, model: (4.81+/-0.29) lg3/ml, and intervention: (3.61+/-0.50) lg3/ml; F = 23.579, P = 0.000] and plasma endotoxin level [control: (0.52+/-0.21) pg/ml, model: (12.46+/-2.61) pg/ml, intervention: (6.83+/-1.74) pg/ml; F = 30.731, P = 0.000]. The levels of ALT, AST, TG and endotoxin, and the number of E. coli were all significantly higher in the model group than in the control group and the intervention group (all P less than 0.05). Small intestinal epithelial cell structural failure was more apparent and intercellular gaps more broad after eight weeks than after four weeks for all three groups. However, the intervention group showed clearer cell connection structures and less extensive cell gap broadening than the model group at eight weeks. After eight weeks, the occludin protein had become significantly down-regulated and distributed in a non-continuous pattern in the model group, as compared with the control group. However, the occludin protein expression was higher in intervention group than in the model group.

CONCLUSIONIntestinal endotoxemia related to perturbations in the microenvironment occurs in the early phase of ALD, and the increased intestinal permeability appears to be the initial factor of elevated plasma endotoxin, which may lead to liver damage. Probiotic therapy can reduced plasma endotoxin levels and postpone ALD progression by altering the composition of the gut microbiota and up-regulating expression of the occludin protein in intestinal epithelial cells.

Alanine Transaminase ; blood ; Animals ; Aspartate Aminotransferases ; blood ; Endotoxins ; blood ; Escherichia coli ; isolation & purification ; Fatty Liver, Alcoholic ; microbiology ; therapy ; Intestinal Mucosa ; metabolism ; microbiology ; Intestine, Small ; metabolism ; microbiology ; Male ; Occludin ; metabolism ; Probiotics ; therapeutic use ; Rats ; Rats, Sprague-Dawley ; Triglycerides ; blood

OBJECTIVETo investigate the myocardial protective effect of L-carnitine in children with hand, foot and mouth disease (HFMD) caused by Coxsackie A16 virus and possible mechanisms.

METHODSA total of 60 HFMD children with abnormal myocardial enzyme after Coxsackie A16 virus infection were enrolled and randomly divided into L-carnitine group and fructose-1,6-diphosphate group (fructose group), with 30 children in each group. The two groups were given L-carnitine or fructose diphosphate in addition to antiviral and heat clearance treatment. Another 30 healthy children who underwent physical examination were enrolled as control group. The changes in myocardial zymogram, malondialdehyde (MDA), superoxide dismutase (SOD), and apoptosis factors sFas and sFasL after treatment were compared between groups.

RESULTSThere was no significant difference in treatment response between the L-carnitine group and the fructose group (P>0.05). One child in the fructose group progressed to critical HFMD, which was not observed in the L-carnitine group. Before treatment, the L-carnitine group and the fructose group had significantly higher indices of myocardial zymogram and levels of MDA, sFas, and sFasL and a significantly lower level of SOD than the control group (P<0.05), while there were no significant differences in these indices between the L-carnitine group and the fructose group (P>0.05). After treatment, the L-carnitine group and the fructose group had significant reductions in the indices of myocardial zymogram and levels of MDA, sFas, and sFasL and a significant increase in the level of SOD (P<0.05); the fructose group had a significantly higher level of creatine kinase (CK) than the control group and the L-carnitine group, and there were no significant differences in other myocardial enzyme indices, MDA, sFas, and sFasL between the L-carnitine group and the fructose group, as well as between the L-carnitine and fructose groups and the control group (P>0.05). SOD level was negatively correlated with aspartate aminotransferase, lactate dehydrogenase (LDH), CK, and creatine kinase-MB (CK-MB) (r=-0.437, -0.364, -0.397, and -0.519 respectively; P<0.05), and MDA level was positively correlated with LDH and CK-MB (r=0.382 and 0.411 respectively; P<0.05).

CONCLUSIONSL-carnitine exerts a good myocardial protective effect in children with HFMD caused by Coxsackie A16 virus, possibly by clearing oxygen radicals and inhibiting cardiomyocyte apoptosis.

Carnitine ; therapeutic use ; Child, Preschool ; Coxsackievirus Infections ; complications ; Female ; Hand, Foot and Mouth Disease ; drug therapy ; etiology ; metabolism ; Heart ; drug effects ; Humans ; Infant ; Male ; Malondialdehyde ; analysis ; Myocardium ; metabolism ; pathology ; Superoxide Dismutase ; metabolism

Betacoronavirus ; genetics ; Coronavirus Infections ; diagnosis ; Genetic Variation ; Humans ; Pandemics ; Pneumonia, Viral ; diagnosis ; Real-Time Polymerase Chain Reaction ; methods

OBJECTIVETo evaluate the response rate and adverse reactions of exemestane (a new aromatase inactivator) in the treatment of postmenopausal women with advanced breast cancer.

METHODSOne hundred and seventy-three patients with advanced breast cancer entered this study with two patients excluded because of postmenopausal time being less than one year. Therefore, 173 patients could be evaluated for adverse events and 171 patients could be evaluated for efficacy. Exemestane, 25 mg orally daily for 4 weeks as one cycle was given.

RESULTSIn the 171 patients evaluated for efficacy, 4 (2.3%) experienced a complete response (CR) and 40 (23.4%) a partial response (PR), with the overall response rate of 25.7%. Ninety patients (52.6%) had stable disease (SD), with 25 having SD for at least 24 weeks. The clinical benefit (CR + PR + SD > or = 24 weeks) was shown in 69 (40.4%) patients. Progressive disease (PD) was shown in 37 (21.6%) patients. The untreated patients had a higher objective response rate (33.8%) than the retreated ones (18.1%) with significant difference (P = 0.019 7). The response rates for soft-tissue, bone involvement and visceral metastasis were 32.8%, 23.9%, and 12.4% (P = 0.002). There was no significant difference in different ages, time of menopause, disease-free interval or receptor status (P > 0.05). Drug-related adverse events were gastric discomfort (17.9%), malaise (17.9%), nausea (13.9%), hot flushes (11.0%) and dysphoria (5.8%). Other side reactions and abnormal laboratory parameters were observed occasionally which were irrelevant.

CONCLUSIONExemestane can be used to treat postmenopausal women with advanced breast cancer giving only mild adverse reactions which are well tolerated.

Adult ; Aged ; Androstadienes ; adverse effects ; therapeutic use ; Antineoplastic Agents ; therapeutic use ; Aromatase Inhibitors ; Breast Neoplasms ; drug therapy ; Enzyme Inhibitors ; therapeutic use ; Female ; Humans ; Middle Aged ; Postmenopause