Nephrocalcinosis is often accompanied by kidney stone disease. In recent years, more and more nephrocalcinosis has been found to be caused by a monogenic disease, and its pathogenesis has not been fully elucidated. With the development of molecular genetics, more than 30 genes have been found to be the causative genes of nephrocalcinosis. At the same time, with the widespread development of genetic testing technology, more patients have received early diagnosis and timely intervention. This article reviews the clinical and basic research progress of monogenic nephrocalcinosis.

Primary hyperoxaluria (PH) are important causes of kidney stone and chronic kidney stone disease in children. Recurrent kidney stone disease and nephrocalcinosis should alter the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition of genotype and phenotype of PH resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. This paper review the characteristics of genotype and phenotype, genotype-phenotype correlation, current treatment and future gene therapy of PH.

BACKGROUNDTo determine the antigenicity of HGV NS5 recombinant proteins expressed in E.coli.

METHODSHGV NS5a,NS5b and core/NS5b fusion genes were cloned into pThioC vector. Three expression plasmids were transformed into JM109(DE3) competent cells then expressed with induction by IPTG. Western blot and ELISA were used to determine the antigenicity after the three recombinant proteins were purified.

RESULTSAfter identification by restriction enzyme and sequencing, it was confirmed that the expressed was target proteins espected. Purified expression proteins were found strongly immunoreactive among anti HGV positive sera by Western blot and ELISA. Compared with mixed recombinant antigen (including core, NS5a synthetic peptide and NS3 recombinant proteins), in the 22 positive sera detected with mixed antigen, 68%(15/22), 90%(20/22) and 73%(16/22) were positive by P5a,P5b and Pc?5b antigens; In the 70 negative samples with mixed antigen, 7%(5/70), 1%(1/70) and 6%(4/70) were positive by P5a, P5b and Pc?5b antigens. The positive alone was found among RTPCR positive specimen using these recombinant antigens.

CONCLUSIONSNS5 gene expressed in E.coli?which couldn't be covered with other regions of antigens was one of the essential epitopes to HGV immunologic diagnosis.

Antibodies, Viral ; blood ; Antigens, Viral ; blood ; Epitopes ; immunology ; GB virus C ; genetics ; immunology ; Humans ; Plasmids ; genetics ; Recombinant Proteins ; biosynthesis ; immunology ; Viral Nonstructural Proteins ; genetics ; immunology

In recent years, multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus, nephrocalcinosis, extrarenal manifestations, renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly, advances in gene therapy technologies, especially gene editing, promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now, the classification, cha-racteristics of genotype and phenotype, and the treatment of monogenic causes of nephrolithiasis were reviewed.

Objective:Based on data mining, the basic acupoint selection rules of allergic rhinitis were discussed, which provided a reference for the clinical treatment of allergic rhinitis.Methods:Computer search for literature on auriculo-sensitive rhinitis in VIP, China National Knowledge Infrastructure, Wanfang, China Biomedical Database, PubMed, Embase, Web of Science, the search period was from establishment of the database until August 29, 2023. The frequency, symptom type and distribution of ear point prescriptions were counted, and the association rules and cluster analysis of ear point prescriptions were carried out.Results:A total of 109 studies were included, and 127 prescriptions for ear points were extracted, involving 33 ear points. The association rules showed that the lungs, inner nose, adrenal glands and wind creek were the core ear points, and the cluster analysis formed six types of combinations: "spleen, kidney, lung, wind creek""subcortical, trachea, liver, throat, shenmen" "large intestine" "internal nose, adrenal gland" "endocrine" "sympathetic, external nose".Conclusions:Auricle therapy for allergic rhinitis mainly involves lungs, inner nose, adrenal glands and wind creeks, and dialectical acupoints are selected according to internal organs and symptoms, providing reference and reference for clinicians.

Objective:To investigate the real experience of patients returning to work after total hip and knee arthroplasty, in order to provide a reference for patients to return to work successfully.Methods:We searched for qualitative studies on the real experience of patients after total hip and knee arthroplasty in the returning to work process at home and abroad in the databases such as Cochrane Library, PubMed and Embase, etc, and the search period was from the establishment of the library to May 29, 2023, and the results were integrated by Meta-integration.Results:A total of 6 studies were included, 46 results were extracted, and 9 categories were formed and integrated into 4 themes, patients had different motivations for returning to work, there were many factors influencing patients′ return to work, and patients were eager to be helped in the process of returning to work, and learned from experience to improve their confidence in successfully returning to work.Conclusions:Patients with joint replacement have many obstacles and psychological burden in the process of regression, and hope to receive support from many aspects. Healthcare workers should pay attention to the needs of these populations, provide improved medical support, and actively promote the return of patients to work.

Some kidney stones are caused by single gene mutations, and monogenic kidney stone diseases associated with purine metabolic disorder mainly including adenine phosphoribosyltransferase(APRT) deficiency, hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency, hereditary xanthinuria(HX), and some diseases caused by gene mutations such as PRS1, SLC22A12, SLC2A9 and ABCG2. Such diseases can lead to abnormal metabolism of purine and uric acid, and then form 2, 8-dihydroxyadenine stones, uric acid stones or xanthine stones. This kind of diseases are rare, the genotype and phenotype of different types of monogenic diseases related to purine metabolism have their own characteristics and are not widely recognized. At present, the main treatment is medical therapy. Gene sequencing will make the diagnosis and find more disease-related genes or mutations. Gene editing, such as CRISPR/Cas9 technology, makes it possible to cure monogenic kidney stone diseases associated with purine metabolism disorder in the future.

Renal abscess caused by fish bone ingestion is extremely rare and has not been reported in the literature. A male patient presented with a 1-week history of flank pain and a 2-day history of fever. Urinary ultrasound and CT scan showed an irregular hypodense lesion in the left kidney and blurred thickening of the descending colon wall. Three-dimensional CT reconstruction images revealed a needle-like foreign body, which perforated from the descending colonic lumen to the left kidney. The patient had accidentally eaten fish bone one week prior. On the basis of clinical data, the diagnosis of renal abscess caused by foreign body was suspected. Accordingly, laparotomy was performed, the abscess was drained, and the colon was repaired. The foreign body was confirmed to be fish bone. The postoperative condition of the patient was uneventful, and the patient remained well in the 3 months' follow-up without any further complaints.

Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.

Objective To establish and evaluate a talent training system for hospital information pharmacists based on a competency model,thereby enhancing refined management of pharmaceutical affairs in hospitals and promoting high-quality development of pharmacy services.Methods The current development status of hospital information pharmacists at home and abroad was examined.A competency model for hospital information pharmacist positions was established using methods such as behavioral event interviews.In conjunction with this model,training course outlines addressing knowledge and capability requirements were developed.National skill training classes for hospital information pharmacists were conducted using innovative teaching methods like scenario simulation and case discussion.Training effectiveness was evaluated by tracking participants'work performance and scientific research achievements in the field of pharmaceutical information through questionnaire surveys before and after the training.Results The hospital information pharmacist positions competency model was constructed in four parts:knowledge,experience,skills,and personal traits.Based on this model,a training system for hospital information pharmacists was established,which included setting job responsibilities and performance indicators,establishing a pharmacy information department system,designing a series of training courses and publishing textbooks,founding national training classes,creating a specialized question bank,and developing a digital pharmacy network platform.The project team tracked the work performance and scientific research achievements of participants before and after training,using the national hospital information pharmacist training class hosted by the Guangdong Pharmaceutical Association as an example.From 2018 to 2024,a total of 465 information pharmacists from 298 hospitals across 28 provinces and cities were trained over seven sessions.Questionnaires were sent to participants who had completed at least one year since graduation,and 236 valid responses were received.Of these,169(71.6% )participants reported playing a major role in pharmacy informatization projects after the training,and 65(27.5% )participants published papers,applied for projects,or filed for patents after the training,with the majority related to pharmacy automation and informatization.Conclusion A competency model for hospital information pharmacist positions was constructed and applied nationwide,achieving favorable results.