Objective To discuss the selection of conveyance and the temperature safeguards during the transport of blood specimens for centralized nucleic acid detection.Methods A total of five chips,which have been set every 10 minuets to record the temperature,have been placed in the Specimen box accordance with the appendix B ofblood transport requirements (WS/T 400-2012).Then,observe the temperature changes in case of ice been placed on both sides,sides and top,sides and bottom,sides and top,bottom of the specimen box respectively.Results In case of ice been placed on both sides of the specimen box,the temperatures were always higher than 10 ℃.In case of ice been placed on both sides and the top of the specimen box,the temperatures were all in range of 2-10 ℃ within 13 hours.In case of ice been placed on both sides and the bottom of the specimen box,only the temperatures of the top were always higher than 10℃.In case of ice been placed on both sides,top and bottom of the box,the temperatures of the bottom were always lower than 2 ℃.Conclusion In case of ice been placed on both sides and top of the box was the most appropriate temperature safeguards during the transport of blood specimens,while in the other cases,the temperatures were lower than 2 ℃,or higher than 10 ℃.

Objective: To explore the clinical and genetic characteristics of infantile nephrotic syndrome caused by COQ2 variants. Methods: The clinical and genetic data of a patient with nephrotic syndrome caused by COQ2 variants diagnosed at pediatric department of Peking University First Hospital from February 2018 to March 2018 were retrospectively analyzed. Related literature retrieved from PubMed, CNKI and Wanfang databases were searched to date (up to July 2018) with "COQ2 gene" or "primary coenzyme Q10 deficiency" and "nephrotic syndrome" or "nephropathy" as key words. Results: A 14-month-old male, presented to local hospital at 11 months of age with edema and severe proteinuria, without hematuria, hypertension or renal dysfunction. He did not have infection or seizure in the course of the disease. He had no response to a more than four-week full-dose prednisone treatment. He had normal birth, mild motor development retardation and moderate language retardation. He was born to non-consanguineous healthy parents. He had two unaffected older sisters and one older sister died of "nephropathy" at one year of age. Genetic testing identified compound heterozygous variants in COQ2 gene: c.518G>A and c.973A>G, both could be predicted by in silico tools to be deleterious in protein function. These variants are not single nucleotide polymorphism and rare in normal populations. Both variants have previously been reported as pathogenic. These missense mutations were inherited from parents in autosomal recessive manner tested by Sanger sequencing. The patient was supplemented with high-dose of coenzyme Q10, at 30 mg/(kg·day) and glucocorticoid was withdrawn. Within three weeks of high dose coenzyme Q10 treatment, the edema disappeared. After seven weeks of high dose coenzyme Q10 treatment, the patient had decreased proteinuria and improved serum albumin levels. The urine protein to creatinine ratio decreased from 22.87 mg/mg to 1.98 mg/mg; Serum albumin increased from 14.2 g/L to 39.9 g/L, with normal kidney function and improved motor development. Primary CoQ10 deficiency is reported to be a rare autosomal recessive mitochondrial disorder with heterogeneous renal, neurologic, and muscular manifestations. To date, COQ2 variants have been reported in 14 children with glomerular involvement. Their age at onset ranged from neonatal period to 10-year-old (8 patients within the first year of life). Steroid resistant nephrotic syndrome (SRNS) is the most common phenotype. Some of these children also had progressing encephalopathy and myopathy, and seizures. Patients with COQ2 variants might show clinical improvement with early high-dose oral CoQ10 supplementation. Literature review revealed two Chinese articles, mainly about adults with neurologic symptoms. SRNS was previously not reported in Chinese pediatric patients. Conclusions It is necessary to carry out genetic testing for infant with SRNS. The coexistence of some degree of encephalomyopathy, such as development retardation, should raise suspicion of a mitochondrial defect caused by COQ2 variants. Timely diagnostic genetic testing and early high dose of coenzyme Q10 supplement could significantly improve their prognosis.

Urease decomposes urea to ammonia, and has application potential in agriculture and medical treatment. Urease proteins include structural proteins (UreA, UreB and UreC) and accessory proteins (UreD/UreH, UreE, UreF and UreG), each of them has its own unique role in urease maturation. The structural proteins form the active center of urease, and the accessory proteins are responsible for the delivery of nickel. We review here the structure and function of bacterial urease complexes, and how each protein interacts to complete the activation process. We hope to provide theoretical basis for the regulation of urease activity and the development of urease inhibitors.
Bacterial Proteins ; Nickel ; Urease ; metabolism