0 05),but arterial oxygen tension and FEV 1 were elevated obviously (P

Objective Estimating the treatment to respiratory failure in acute exacerbation of chronic obstructive pulmonary disease by scores in the form of quantitative assessment.Methods 156 patients with chronic obstructive pulmonary disease with acute exacerbation of respiratory failure in patients in the medical intensive care unit based on the worst value of the calculated APACHEⅡ score were grouped,divided into groups and pairs of oxygen the level of non-invasive positive pressure ventilation group.Based on the worst values calculated by the APACHEⅡ and TISS-28 score within 24 h after admission into MICU selected cases is re-grouped into an effective group of oxygen,BiPAP effective group and invasive ventilation group.Statistics separately for each group of patients with APACHEⅡ score and TISS-28 score range,length of stay.Results The invasive ventilation group APACHEⅡ score(27.44?6.79)and TISS-28 score(28.22?7.90)was significantly higher than the other groups(P0.05),invasive ventilation group and effective group MICU hours of BiPAP have significant difference(P

Objective To investigate the clinical effect and safety of the application of contitunous renal replacement therapy (CRRT) in non-kidney severe patients in MICU.Methods Twenty-nine cases who underwent the CRRT in MICU were included in the study.Vessel pathway were all through inserting double channel catheter in femoral vein or internal carotid vein.According to the patient's condition,patients were treated by slow continuous ultrafiltration( CVVH )or continuous veno-venous hemodialysis (CVVHDF).The duration was 4-12 hours or continuation if necessary.The volume of blood flow was 100-180 ml/h.The displacement liquid was 30-50 ml/time.The volume of dehydration was 0-4 kg according to the patient's condition.The clinical symptoms,hemodynamics,blood biochemistry,PaO2/FiO2,pH,tumor necrosis factor and acute physiology and chronic health evaluation (APACHE) Ⅱ were observed before and after therapy.The complications were monitored.Results The vital signs of the patients became stable shortly after CRRT therapy,before CRRT temperature ( 37.6 ± 0.88 ) ℃,respiratory rate ( 110.3 ± 19.54)time/min,the oxygention index (262.6 ± 10.6),WBC ( 11.33 ± 2.27) × 109/L,NE (85.62 ± 7.83 ) %,AST ( 74.58 ± 19.34 ) U/L,APPACHE Ⅱ score ( 24.37 ± 9.23 ),after CRRT temperature ＞( 36.84 ± 0.58 ) ℃.respiratory rate ( 102.0 ± 16.2 ) times/min,the oxygention index ( 373.2 ± 11.2),WBC (9.62 ±3.26) × 109/L,NE (71.58 ± 10.54) %,AST(38.34 ± 13.96) U/L,APACHE Ⅱ score ( 14.65 ± 6.54).There were significantly difference between the indices at before and after treatment ( P ＜ 0.05 ).Serious ions and acid base abnormality were rectified during CRRT therapy without any severe complications.Conclusions CRRT therapy could decline the level of infections reaction and improve organs' function,adjust the balance of internal environment,stable hemodynamics without any severe complication after treatment.CRRT is safe and effective.In conclusion,CRRT is a primary treatment and an important supportive therapy.

Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with early-onset glo-boid cell leukodystrophy (GLD). Methods The clinical and genetic data of a rare case of early-onset GLD were retrospectively analysed. Results At 2 months after birth, the boy showed progressive psychomotor regression. At 4 months of age when the boy was taken to a doctor, the pyramidal sign was positive. The cranial MRI showed that the body of the lateral cerebral ventri-cles was slightly enlarged and the brain ditch crack of frontal-temporal-parietal lobe was widened and deepened. On his brain CT scan, high signals in bilateral basal ganglia, thalami, cerebellar hemisphere were observed.β-galactosylceramidase (GALC) ac-tivity in the peripheral leucocytes was signiifcantly decreased (3.9 nmol/g protein.h). On his GALC gene, one homozygous novel mutation c.868C>T on exon 8 was found, which resulted in the amino acid change on p.R290C proteins. Conclutions Early-on-set GLD is a rare autosomal-recessive hereditary lysosomal storage disease with a terrible prognosis, in which beta-galactose glu-coside enzyme deifciency is induced by GALC gene mutation. The diagnosis of early-onset GLD is dififcult and should depend on enzyme assay and gene testing.

Objective To introduce a case of ethylmalonic encephalopathy which is an autosomal recessive metabolic disorder caused by mutations in the ETHE1 gene. Methods The clinical course and gene mutation in a case of ethylmalonic encephalopathy was retrospectively analysed. Results A previously healthy girl presented with intractable diarrhea from the age of 7 months. Since then, progressive psychomotor regression has been observed. When she was 23 months, her blood butyr-ylcarnitine was signiifcantly increased (4.48μmol/L vs. normal range 0.0~1.0μmol/L), and isovalerylcarnitine (0.70μmol/L vs. normal range 0.0~0.65μmol/L) was also elevated. Her urine levels of ethylmalonic acid and methylsuccinate acid were markedly increased. Cranial MRI revealed bilateral basal ganglia lesions supporting the diagnosis of ethylmalonic encephalopathy. On her ETHE1 gene, a reported mutation (c.488G>A, p.R163Q) and a novel mutation (c.203T>C, p.L68P) were identiifed. After lactose-free dietary treatment and the supplements of L-carnitine, coenzyme Q10, vitamins B1, B2 and C, gradual improvement in general condition, intelligence and motor development has been observed. Conclusions Ethylmalonic aciduria is common in the patients with inborn errors of mitochondrial fatty acid beta-oxidation. In ethylmalonic encephalopathy, elevated blood levels of butyrylcarnitine and isovalerylcarnitine are common and ETHE1 sequencing is helpful in its diagnosis.

OBJECTIVETo observe the intervention effects of Huannao Yicong decoction on cognitive function and apoptosis and expression of relative regulative gene of Hippocampus in cognitive impairment rats induced by complex factors.

METHOD60 SD rats were divided randomly into Huannao Yicong decoction high-dose group (HHG), Huannao Yicong decoction low-dose group (HLG), positive control group (PCG), model control group (MCG) and blank control group (BCG). Rats in the BCG were received daily hypodermic injection of tales doses of normal sodium for 10 weeks with normal feeder. Rats in other groups were received daily hypodermic injection of D-galactose with the concentration of 50 mg kg(-1) for 10 weeks, from the 5th week on, half fat feeder were fed until the end of the 10th week. From the 7th on, rats in HHG were administered with 0.01 mL g(-1) Huannao Yicong decoction suspension by gavage (crude drug 14 g kg(-1)). Rats in LHG were administered with 0.01 mL g(-1) Huannao Yicong decoction suspension by gavage (crude drug 7 g kg(-1)). Rats in PCG were administered with 0.01 mL g(-1) hydrochloricdonepezil suspension by gavage (0.4 mg kg(-1)). Rats in MCG and BCG were administered with 0.01 mL g(-1) distilled water by gavage, intragastric administration was given daily until the end of the 10th week. The behaviors of the rats were observed by morris water maze, the apoptosis and expression of relative regulative gene of hippocampus were measured.

RESULTThe morris water maze indicated that compared with the BCG, the platform locating latency of rats in the MCG was longer and the frequency of swimming through the platform was fewer(P <0.05, P < 0.01), compared with the MCG, there was significant difference on the frequency of swimming through the platform in the HHG and PCG (P <0.05, P <0.01). The number of apoptosis cells in the MCG was more than that in the BCG, the difference was significant (P <0.01), the number of apoptosis cells in the HHG, HLG and PCG was reduced and the ratio of Bcl-2 and Bax was increased (P < 0.01).

CONCLUSIONHuannao Yicong decoction could improve the learning and memory functions of cognitive impairment rats, inhibit the apoptosis of cells in hippocampus, regulate the expression of relative gene, accelerate the repairing of cells, protect the impaired brain tissue, and these may be part of the channels of clinical effects.

Animals ; Apoptosis ; drug effects ; Cognition Disorders ; drug therapy ; genetics ; metabolism ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Gene Expression ; drug effects ; Hippocampus ; drug effects ; metabolism ; Humans ; Proto-Oncogene Proteins c-bcl-2 ; genetics ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; bcl-2-Associated X Protein ; genetics ; metabolism

Objective To explore the diagnosis and treatment of a rare case of methylmalonic aciduria combined with congenital adrenal hyperplasia. Methods The clinical and laboratory data of the first case of methylmalonyl CoA mutase deifcient methylmalonic aciduria combined with 21-hydroxylase deifciency in China were analyzed. Results The male patient with age of onset at 3 months presented with feeding dififculty, diarrhea, metabolic acidosis, and psychomotor retardation after polio vaccination or high protein diet. At one year and 8 months of age, methylmalonic aciduria was diagnosed, and the patient was clinically improved after treatment. At 5 years of age, precocious puberty was noticed, and virilizing form of 21-Hydroxylase deifciency was diagnosed. Genetic testing conifrmed 2 known mutations in MUT gene (c.866G?>?C, c.2179C?>?T) and 2 known mutations in CYP21A2 gene (c.188A?>?T, c.518T?>?A). Conclusions The clinical manifestations of inherited metabolic disorders and endocrine diseases are complex and it is rare that multiple disorders occurred simultaneously in one patient. This male patient has two rare diseases, methylmalonic aciduria and 21-hydroxylase deifciency.

ObjectiveTo screen and establish animal models of combined stasis and toxin syndrome based on the comparison of three modeling methods， i.e.， carrageenan （Ca）， Ca combined with dried yeast （Ca+Yeast）， and Ca combined with lipopolysaccharide （Ca+LPS）. MethodForty SPF male SD rats were randomly divided into normal group， Ca group， Ca+Yeast group， and Ca+LPS group， with 10 rats in each group. The Ca group， Ca+Yeast group， and Ca+LPS group received an intraperitoneal injection of Ca （10 mg·kg^-1） on the first day. The Ca+LPS group received an intraperitoneal injection of LPS （50 μg·kg^-1） on the second day， and the Ca+Yeast group received a subcutaneous injection of dry yeast suspension （2 mg·kg^-1） on the back on the second day. The rectal temperature of each group was dynamically observed after modeling. After 24 hours of modeling， the macroscopic evaluation indexes， including tongue manifestation， pulse， and black tail length in each group were observed. The PeriCam PSI imaging system was used to detect the blood flow perfusion of the rat tail. The automatic hemorheology analyzer was used to measure the whole blood viscosity and plasma viscosity of each group. The PL platelet function analyzer was used to detect the platelet aggregation rate of the rats. The enzyme-linked immunosorbent assay （ELISA） was used to detect the interleukin-6 （IL-6） level in the rat plasma. The myocardial tissue， brain tissue， and lung tissue of each group of rats were observed by hematoxylin-eosin （HE） staining. ResultCompared with the normal group， all three model groups showed varying degrees of black tail （P<0.05， P<0.01）， reduced blood flow perfusion at the tail end （P<0.05， P<0.01）， decreased R， G， and B values of tongue manifestation （P<0.05， P<0.01）， and increased maximum platelet aggregation rate （P<0.05， P<0.01）. The pulse amplitudes of the Ca+Yeast group and the Ca+LPS group were lower than that of the normal group （P<0.05， P<0.01）. In addition， the average rectal temperature of the Ca+Yeast group increased after 24 hours of modeling （P<0.01）， and the low-， medium-， and high-shear whole blood viscosity and plasma viscosity increased （P<0.05， P<0.01） as compared with those in the normal group. Additionally， the expression level of the plasma inflammatory factor IL-6 was significantly up-regulated （P<0.05）. Pathological morphology results showed that the Ca+Yeast group had the most severe pathological changes， with small foci of myocardial fiber dissolution， inflammatory cell infiltration， and fibroblast proliferation observed. In the hippocampal area， the neurons were sparse and had undergone red degeneration. In the small focus of the lung interstitium， lymphocytes and neutrophils were infiltrated. ConclusionThe animal model of combined stasis and toxin syndrome was properly established using Ca+Yeast. The systematic evaluation system of the model， which includes traditional Chinese medicine four diagnostic information， western medicine microscopic indicators， and tissue pathological morphology， is worthy of consideration and reference by researchers.

Cerebral ischemia is also known as ischemic stroke. In recent years, research on neuroprotection after ischemia has became a hot spot as stroke can result in symptoms of nerve damages such as hemiplegia, learning and memory disorders. The key factors that cause the death of cells include excitotoxicity, oxidative damage, nitrosative stress and inflammation. However, there is no effective preparation for the treatment of post-ischemic nerve defects at present, so it is urgent to find and develop effective drugs for the treatment of nerve damages after ischemia. Traditional Chinese medicine has advantages and potentials in the treatment of neurological diseases. Many scholars have carried out related researches on the active ingredients of traditional Chinese medicine and achieved some good results. In this context, the researches on the neuroprotective effects of traditional Chinese medicines such as tetramethylpyrazine, butylphthalide and total saponins of Panax notoginseng were reviewed. The author found that the neuroprotective researches of traditional Chinese medicine mostly focused on anti-apoptosis, anti-inflammatory and anti-oxidative stress, but those effects were not sounique to the nervous system. Furthermore, most ingredients of traditional Chinese medicine showed a poor water-soluble property. In view of the research status and existing problems of traditional Chinese medicine in nerve injury, the suggestions for the research and development of the potent neuroprotective agents were proposed in this study from the perspective of pharmacological mechanism research and preparation theory.
Benzofurans/therapeutic use* ; Brain Ischemia/drug therapy* ; Cerebral Infarction/drug therapy* ; Drugs, Chinese Herbal/therapeutic use* ; Humans ; Medicine, Chinese Traditional ; Neuroprotective Agents/therapeutic use* ; Panax notoginseng ; Pyrazines/therapeutic use* ; Saponins/therapeutic use*

OBJECTIVETo investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease.

METHODSThe proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age of 8 months. From the age of 16 months, he presented seizures. When he was admitted at 17 months old, severe mental retardation and weakness were observed. Fundus examination revealed bilateral cherry-red spots in the macula and optic atrophy. Cranial MRI revealed abnormal signals in the thalamus, basal ganglia and white matter. Enzymatic assay and genetic testing were performed for the diagnosis. His mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene diagnosis to the fetus was performed by direct sequencing.

RESULTSSignificant deficient total β-hexosaminidase (A and B) activity in peripheral leucocytes of the patient (0.0 nmol/h/mg compared with normal control, 41.9 to 135.1 nmol/h/mg) supported the diagnosis of Sandhoff disease. On his HEXB gene, two mutations were found. c.1645G-A (p.G549R) was novel. c.IVS7-48T was a reported mutation. Now, the patient was 2 years and 3 months old, with progressive general failure, severe epilepsy, blindness and hypermyotonia. Subsequently, the mother visited us at 18 weeks of pregnancy seeking for prenatal diagnosis. HEXB gene analysis of the amniocytes was performed by direct sequencing. Both of the two mutations were not detected from cultured amniocytes. The result revealed that the fetus was not affected by Sandhoff disease. A healthy girl, the sibling of the proband, was born in term. Postnatal enzyme analysis and genetic analysis of the cord blood cells confirmed the prenatal diagnosis.

CONCLUSIONOne novel mutation on HEXB gene was identified. Prenatal diagnosis to the fetus of this family was performed by amniocytes gene analysis.

Adult ; Amniotic Fluid ; cytology ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Sandhoff Disease ; diagnosis ; genetics ; beta-Hexosaminidase beta Chain ; genetics