Objective To study the distribution ,specimen types and characteristics of antibiotic resistance of Escherichia coli producing extended‐spectrum βlactamases(ESBLs) of the hospital in 2013 and to guide clinical drug use .Methods Analyzed the distribution and antibiotic resistance for the 375 strains of ESBLs‐producing E .coli ,and ESBLs was detected by disk diffusion phe‐notypic confirmatory test .Results The major distribution department was gynecology department which accounted for 42 .67% , followed by uropoiesis surgical department which accounted for 14 .67% ;the major specimen type was urine(55 .2% ) ,followed by puncture fluid(15 .47% )and excretion(14 .67% ) .For the 375 isolates of ESBLs‐producing E .coli ,the resistance rates to cefazolin , cefuroxime ,cefoperazone and cefotaxime were 100 .00% ,to SMZco was 78 .10% ,while the resistance rate to imipenem was 0 .00% , and to amikacin and fosfomycin were 4 .30% and 10 .10% respectvely ,the resistance rates to piperacillin/tazobactam and aztreonam were 17 .10% and 66 .70% respectvely .Conclusion ESBLs producing Escherichia coli have severe multidrug resistance .Antibiotics should be chosen and used rationally in accordance with results of drug susceptibility testing ,meanwhile the monitoring of ESBLs′infection rate and drug resistance should be strengthened .

Objective To investigate the effects of gemstone energy spectrum CT atomic number method and infrared spec-troscopy for analyzing the composition of urinary calculi and to compare their values in qualitative diagnosis of urinary calculi .Meth-ods Two hundreds and sixty cases of urinary tract stones were performed the gemstone spectrum CT urinary scanning and the stone composition was identified by atomic number method .After removing stone ,the stone composition analyzed by infrared spec-troscopy served as the gold standard .Then the consistency identified by the two methods was analyzed .Results The Kappa consis-tency test results showed that the two kinds of method for identifying stone type had good consistency (Kappa=0 .787 ,P<0 .01) . The paired chi square test results showed that the difference of the two methods for identifying the stone type had no statistical sig-nificance(χ2 =6 .581 ,P=0 .254) .The stone crystal composition types measured by gemstone energy spectrum CT atomic number method were less than those measured by infrared spectroscopy .The precise quantification of the stones with different crystal struc-tures was not as accurate as that of infrared spectroscopy (calcium oxalate monohydrate and calcium oxalate dihydrate ) .Conclusion The two methods for analyzing theurinary stone composition all have clinical significance ,the stone analysis method should be se-lected according to the actual situation .

Objective:To analyze the gene variants in patients with primary distal renal tubular acidosis (dRTA), and explore the correlation between the genotype and phenotype.Methods:The Sanger direct sequencing or whole-exome sequencing was used to identify causal variants and the variation pathogenicity was evaluated according to 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines in 44 dRTA patients (37 families) diagnosed in the Affiliated Qingdao Municipal Hospital of Qingdao University and the Affiliated Hospital of Qingdao University from April 2010 to September 2020. The clinical features of the patients were summarized, and the correlation between the genotype and phenotype was investigated.Results:Seven variants of SLC4A1 gene, 17 variants of ATP6V0A4 gene, and 15 variants of ATP6V1B1 gene were identified in 44 patients with dRTA, and of which 11 variants were new ones. According to ACMG guidelines, the pathogenic, likely pathogenic, benign variants among the 39 variants were 22, 16 and 1, respectively. Nine patients were autosomal dominant hereditary dRTA caused by SLC4A1 gene mutation, 4 patients with autosomal recessive hereditary dRTA complicated with Southeast Asian ovalocytosis and anemia were caused by SLC4A1 gene mutation, and 14 patients caused by ATP6V0A4 gene mutation and 8 patients caused by ATP6V1B1 gene mutation were autosomal recessive hereditary dRTA; Two children with dRTA were found to carry one monoallelic defect in ATP6V1B1, and no causal gene mutation was identified in 7 patients. One patient showed incomplete dRTA, and the other 43 patients showed complete dRTA. The prevalence of sensory neural hearing loss caused by ATP6V0A4 and ATP6V1B1 mutation were 2/14 and 6/10 respectively. The frequency of chronic kidney disease in adults, children and infants were 4/4, 2/4, and 1/36, separately. After the drug treatment based on potassium citrate and sodium citrate, the growth and development (28/40) and electrolyte disturbance (41/44) of most patients were significantly improved. Conclusions:The present study has identified 39 variants of SLC4A1, ATP6V0A4 and ATP6V1B1 genes in 44 patients with dRTA, including 11 novel ones. There is a close relationship between genotype and phenotype in dRTA patients and most patients' conditions were improved after proper treatment. This study enriches the human gene mutation database and provides valuable references for diagnosis, treatment and genetic counseling in patients with dRTA.

Objective: To identify and analyze the variants of the KCNJ1 gene in five Chinese patients with Bartter syndrome type 2 (BS2), and to describe their clinical features as well as treatment results. Methods: Data and blood samples of five BS2 patients and their relatives confirmed by Qingdao Municipal Hospital from June 2012 to January 2019 were collected. Whole-exome-sequencing (WES) based on the second generation high throughput sequencing was performed to detect variants. The 2015 American College of Medical Genetics and Genomics Standards and Guidelines were applied to analyze the pathogenicity of the variants. The clinical features and laboratory results were retrospectively studied. The response to treatment and follow-up data were reviewed. Results: Ten variants including six novel ones of KCNJ1 gene were identified through WES and verified by Sanger dideoxy sequencing. Missense variants accounted for the highest proportion. The common symptoms and signs of five BS2 patients from high to low incidence were polydipsia and polyuria (5/5), one of them (1/5) presented with diabetes insipidus; maternal polyhydramnios and premature delivery (4/5); growth retardation (3/5). Initially, two patients presented with hypochloremic metabolic alkalosis and hypokalemia, whereas the acid-base disturbance was absent in the others. One patient experienced hyperkalemia. In terms of calcium-phosphorus metabolism, one patient had evident parathyroid hormone (PTH) resistance (hypocalcemia, hyperphosphatemia and markedly elevated serum intact PTH levels), three presented with PTH overacting (hypercalcemia, hypophosphatemia and mild elevated serum intact PTH levels), and one showed normal blood calcium and phosphorus concentrations with high-normal serum intact PTH levels. All patients had nephrocalcinosis or hypercalciuria, and one of them complicated with nephrolithiasis. Indomethacin helped to correct the growth retardation, halt polydipsia polyuria, decrease the elevated urinary calcium excretion, and normalize electrolyte disturbance as well as PTH parameters in some patients. Conclusions This investigation identifies ten variants of KCNJ1 gene, including six ones that have not been previously reported, which will enrich the human gene mutation database (HGMD). These patients in our study have atypical BS phenotype, so that careful differentiation from other parathyroid diseases will be required for clinicians.

Adult ; China ; DNA Repeat Expansion ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; RNA, Long Noncoding ; genetics ; Spinocerebellar Degenerations ; genetics ; physiopathology

The methodological framework for interventional clinical research of Chinese medicine （CM） under the research mode of syndrome dominating disease provides a set of technical principles and methods to design， evaluate， and implement of this kind. It consists of three main parts including general principles， research points and key design elements， with a total of 25 items. This methodological framework proposes implementing requirements and recommendations in a variety of aspects， including basic norms to be followed in relevant studies， perspectives for selecting research topics， as well as the technological details on study population （P）， intervention （I） and comparison（C）， outcome measurement （O）， time frame （T） of treatment and follow-up， sample orientation （prospective versus retrospective）， study design （S） format and type. To provide practical guidance for future studies， this article clearly explains each items of the methodological framework through some supportive cases.

OBJECTIVE: To compare the effects of medical ozone oil and urea ointment for prevention and treatment of hand-foot skin reaction (HFSR) caused by sorafenib in patients with hepatocellular carcinoma (HCC). METHODS: A total of 99 patients diagnosed with advanced HCC according to National Comprehensive Cancer Network (NCCN) who were scheduled to receive sorafenib treatment for the first time were enrolled in this study between April, 2018 and January, 2020. The patients were randomized into medical ozone oil group ( RESULTS: Eight patients were excluded for poor compliance or protocol violations, leaving a total of 91 patients for analysis, including 44 in medical ozone oil group and 47 in urea ointment group. Sixteen (36.4%) of patients in ozone oil group developed HFSR, a rate significantly lower than that in urea ointment group (57.4%; CONCLUSIONS Medical ozone oil can significantly reduce the incidence and severity of HFSR to improve the quality of life of HCC patients receiving sorafenib treatment.
Antineoplastic Agents/therapeutic use* ; Carcinoma, Hepatocellular/drug therapy* ; Hand-Foot Syndrome/prevention & control* ; Humans ; Liver Neoplasms/drug therapy* ; Niacinamide/therapeutic use* ; Ozone/therapeutic use* ; Phenylurea Compounds/adverse effects* ; Quality of Life ; Sorafenib/therapeutic use*