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@#Objective To summarize the phenotypic and genotypic characteristics of mitochondrial combined oxidative phosphorylation deficiency type 1 (COXPD1), and to improve the clinicians' awareness of this mitochondrial encephalomyopathy. Methods The clinical characteristics, physical examination, laboratory examination and other data of a child with COXPD1 were analyzed retrospectively. The diagnosis was confirmed by clinical whole exon sequencing and high-precision mitochondrial genome full-length PLUS gene detection, and the phenotype and genotype were analyzed by reviewing relevant literature. Results A one-year and five-month-old boy mainly presented with hyperlactacidemia and abnormal liver function. Clinical whole exon sequencing showed that the child had homozygous variation of c. 688G>A(p.G230S) in the GFM1 gene. Sanger sequencing verified that the variation was respectively inherited from the parents of the child (both were heterozygous) with the autosomal recessive inheritance pattern. The high-precision mitochondrial genome full-length PLUS detection also did not find pathogenic mutations related to clinical phenotypes. The child was diagnosed with COXPD1. After "cocktail" therapy and liver protection therapy, the patient's condition improved. Conclusions The phenotype of COXPD1 is complicated and variable, mainly liver type and brain type. The mutation of GFM1 gene affects mitochondrial translation system function, and early gene detection is helpful for definite diagnosis.
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<p><b>OBJECTIVE</b>To explore the role of heterogeneous nuclear ribonucleoprotein(hnRNP) K regulating autophagy in the drug resistance of acute myeloid leukemia, so as to provide a new molecular marker for treatment of leukemia.</p><p><b>METHODS</b>The relationship between the expression level of hnRNP K and the drug resistance of myeloid leukemia was verified by fluorescence quantitative PCR; the expression of autophagy related protein LC3I/ II was detected by Western blot after the hnRNP K was modulated by RNA interference technology; the sensitivity of leukemia cells to doxorubicin was analyzed before and after the expression of hnRNP K were modulatd.</p><p><b>RESULTS</b>The expression of hnRNP K and LC3I/II significantly increased in bone marrow nonremission patients and in drug resistant cell line, however, the expression of LC3I/ II decreased when the expression of hnRNP K were reduced, while the sensitivity of cells to adriamycin could be recovered.</p><p><b>CONCLUSION</b>hnRNP K may be involved in the formation of adriamycin resistance in acute myeloid leukemia by regulating autophagy.</p>
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Objective To discuss the risk factor of infection after intracavity lithotripsy in upper urinary tract calculi,and establish a pre-operation warming score system.Methods From Jan.2013 to May 2016,412 upper urinary calculi patients who underwent intracavity lithotripsy were analyzed to evaluate the associated risk factors before operation and infection after operationg by non-conditional logistic regression analysis.The pre-operation warming score system was established by giving those risk factor 1-4 point based on OR value.The best threshold was then determined by ROC curve.Results Diabetes mellitus,infection history,renal calculus and uretero-pelvic junction calculus,stone burden,the degree of hydronephrosis and the gender of female were high-risk factors contributed to infection after intracavity lithotripsy,which were given 3,3,3,2,2,2point respectively based on their OR value(8.660,7.046,3.723,2.675,2.256,1.891),and the patients who got high socre were more likely to suffered infection.The sensitivity and specificity of the wanning score system for infection after intracavity lithotripsy were 74.3％ and 84.0％ respectively when its truncation point was 7.5 point(total score was 15 piont).Conclusions Patients who got more than 7.5 point according to the wanning score system were high risk groups of infection after intracavity lithotripsy.
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The effects of four different stocking densities and five different diets on the growth of Bufo gargarizans tadpoles were studied to determine the optimum stocking density and diet. For stocking density experiment, the tadpoles were fed respectively at different density of 200, 500, 1 000 and 2 000 tadpoles per square meter. For diet experiment, the tadpoles were divided into five groups fed respectively with five different diets. The body weight, snout-vent length and tail length were measured every seven days, and mortality was recorded. The results showed that: the survival rates of tadpole before metamorphosis and after metamorphosis were from 68.7% to 96.3% and from 5.7% to 36.0%, respectively; the optimum stocking density is 1 000 tadpoles per square meter for the stocking density had no effect on the survival rate of tadpole before metamorphosis, and the tadpoles had the relative large body weight and survival numbers in 1000 tadpoles per square meter; the diet Ⅱ(37.9% crude protein and 5.7% crude fat), Ⅳ (25.1% crude protein and 4.0% crude fat), and Ⅴ (egg yolk) were all the optimum diets for the diet had no effect on the survival rate of tadpole before metamorphosis and the tadpoles fed with three kinds of diet above had relatively large body weight, and one of these three diets based on their availability and cost should be adopted during breeding period.
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This study was aimed to explore the progression mechanism of chronic myeloid leukemia, so as to provide the new molecular markers for evaluation of CML clinical outcome and selection of treatment. The microarray data of genes related with progression from different phase of chronic myeloid leukemia (CML) were collected from public data depository GEO (Gene expression datasets). SAM analysis, fold change filtering, cross comparison were used to analyze the data and identify different genes. Moreover, MeV and pSTIING sofewares were used to analyze the key differential genes and signal pathways. At last, Q-PCR were used to confirm the predicted key gene. The results indicated that after comparison, 9 genes were differentially expressed from AP to BC, and the integrin-mediated cell adhesion , focal adhesion, regulation of actin cytoskeleton were the principal pathways during CML progression. Network construction analysis found that AP-related genes or pathways may be the original signals; and MLLT4, WDR35 and EPHB4 were the key genes for CML progression. EPHB4 was confirmed by Q-PCR in CML BC patients and CP patients. It is concluded that MLLT4, WDR35, EPHB4, integrin-mediated cell adhesion, focal adhesion and regulation of actin cytoskeleton are the principal genes and pathways during CML progression.
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Humans , Computational Biology , Disease Progression , Gene Expression Regulation, Leukemic , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Genetics , Oligonucleotide Array Sequence Analysis , Signal Transduction , GeneticsABSTRACT
Objective To analyze the reasons of CT misdiagnosis of solid-pseudopapillary tumor of pancreas (SPTP), including wrong orientation, mislocation. Methods The literatures on SPTP were discussed. Results Lesions of SPTP could appear at any position of the pancreas. Conclusion The result is very significant for guiding treatment and judging prognosis.