Dent disease is a rare X-linked recessive renal tubular disease characterized by low molecular weight proteinuria，hypercalcemia and nephrocalcinosis. It is also a major cause of tubular proteinuria in children. According to different causative genes，Dent disease can be divided into three types：type 1 is caused by mutations in the CLCN5 gene，accounting for about 60%-70%；type 2 is caused by mutations in the OCRL gene，accounting for about 15%-20%；type 3 has a similar clinical phenotype but no known pathogenic gene mutations. CLCN5 encodes the voltage-dependent 2Cl -/1H +exchange channel CIC-5，which is involved in proximal renal tubule endocytosis. Its mutations can cause a variety of proximal tubular dysfunction symptoms，mainly including low molecular weight proteinuria. The use of gene detection technology has resulted in an increase in reports on Dent disease year after year. At present，the specific mechanism underlying Dent disease remains unknown. This article reviews the research progress of CLCN5，hoping to provide new insight for the mechanism research of CLCN5 and the specific treatment of Dent disease type 1.

This article retrospectively analyzed the involvement of clinical pharmacists in the treatment process and implementation of pharmacological supervision in a patient with septic arthritis secondary to tophi ulceration.The patient was admitted to the hospital and the emergency debridement and tophi removal were performed.Piperacillin-tazobactam,imipenem cilastatin,levofloxacin,linezolid,and vancomycin were given successively,and multiple debridement and drainage were performed,but the patient remained febrile and had recurrent infection indicators.According to the relevant guidelines and evidence-based evidence,combined with the patient's infection indicators,pathogen results and creatinine clearance rate,the clinical pharmacists recommended stopping vancomycin and changing to cefazolin,and the clinicians adopted it.After that,the patient's inflammatory indicators gradually decreased,and the body temperature stabilized.After 28 days of piperacillin-tazobactam administration,the patient developed a reduction in white blood cell count(2.34×109·L-1)and potassium(2.98 mmol·L-1).The pharmacist recommended prompt discontinuation of the drug,and the patient's white blood cell count and potassium gradually recovered.Eventually,after anti-infective treatment and surgical intervention,the patient was discharged with closure of the infected foci,conversion of multiple blood cultures to negative,and stabilisation of body temperature and renal function.This case reflects the role of clinical pharmacists in the management of drug treatment of critically ill patients,and may provide practical experience and reference for clinical treatment of such cases.

This article reported a case of a newborn with congenital absence of the penis. The prenatal examinations were unremarkable. Physical examination of the newborn revealed abnormal external genitalia, with well-developed scrotum and fully descended testicle in normal size, but without the penis. Postnatal ultrasound showed no obvious signals of uterus and ovaries in pelvis and had normal bilateral testicles and urinary system. The diagnosis was congenital absence of the penis.

Synovium is the target organ of rheumatoid arthritis.The excessive proliferation of synovial cells and insufficient apoptosis lead to synovial hyperplasia,which in turn causes damage to the surrounding tissues of the joint and bone destruction."Yang transforming qi and yin forming elements"is derived from Su Wen and is a highly summarized description of the functions of yin and yang,which runs through the entire course of the disease.This article elucidated the theoretical connotation of"yang transforming qi and yin forming elements"and its connection with synovial hyperplasia,proposing that the insufficiency of"yang transforming qi"is the root of synovial hyperplasia,while the excess of"yin forming elements"is the manifestation of synovial hyperplasia.Based on this,it put forward that"assisting yang qi as the priority,and according to the bias of pathogenic factors of yin,supplementing the method of reducing yin forming elements"is an important principle for treating this disease,which could provide new ideas for the treatment of the disease.

AIM:To investigate the therapeutic effect of Qingre sanzhuo decoction on rats with hyperuri-caemia combined with gouty arthritis and its effect on TLR4/Myd88/NF-κB signalling pathway.METHODS:Forty-eight SD male rats were randomly divided into blank,model,and colchicine groups(0.3 mg·kg-1·d-1),and Origre sanzhou decotion low,medium and high-dosage groups(7.42,14.85,29.70 g·kg-1·d-1),which were treated with the modified Coderre method for hyperuricemia combined with acute gouty arthritis via gavage of yeast paste combined with potassium oxa-late,which was used for the treatment of acute gouty arthritis combined with hyperuricemia.A composite rat model of acute gouty arthritis was constructed by combining yeast paste with potassium oxalate gavage to cause hyperuricaemia,combined with the modified Coderre method.After 7 days of intervention,the circumference of the right ankle joint of rats was measured and the swelling of the ankle joint was calculated,the blood uric acid(HUA)level of rats was determined by biochemical method,the histopatho-logical and morphological changes of the synovial membrane of the ankle joint of rats were examined by HE staining,and the serum levels of inflammatory factors,tumour necrosis factor-alpha(TNF-α),inter-leukin-6(IL-6),and IL-1β were determined by enzyme-linked immunosorbent assay(ELISA),and Western blotting was performed to determine the levels of inflammatory factors,TNF-α,and IL-1β.The protein expression levels of Toll-like receptor 4(TLR4),myeloid differentiation factor 88(Myd88),and nuclear factor-κB(NF-κB)in the synovial tissues of the ankle joints of the rats were determined by Western blot method,and the mRNA expression of TLR4,Myd88,and NF-κB in the rat was determined by real-time fluorescence quantitative polymerase chain reaction(Real-time PCR).RESULTS:Compared with the blank group,rats in the model group showed significantly lower ankle joint swelling(P<0.01),increased levels of HUA,dis-organised synovial tissue structure,large number of inflammatory cells infiltration,and significantly higher serum levels of TNF-α,IL-6,and IL-1β(P<0.01),and the protein and mRNA expression levels of TLR4,Myd88,and NF-κB in the synovial membrane of the ankle joints of the model group were significantly increased(P<0.01).levels were significantly increased(P<0.01);compared with the model group,joint swelling was significantly reduced in the colchicine group,and the medium-and high-dose groups of Qingre sanzhuo decoction(P<0.05);synovial hyperplasia and inflam-matory cell infiltration were improved in the colchicine group and the medium-and high-dose groups of Qingre sanzhuo decoction,and the HUA and the levels of TNF-α,IL-6,and IL-1β were significantly decreased in the dosing groups(P<0.05,P<0.01),and compared with the model group,the medium-and high-dose groups of Qingre sanzhuo decoction could significantly reduce the expression of TLR4,Myd88,and NF-κB protein and mRNA(P<0.01).CONCLUSION:Qingre sanzhuo decoction reduces the release of inflamma-tory factors by inhibiting the TLR4/Myd88/NF-κB pathway,and plays a role in the treatment of hyper-uricaemia combined with gouty arthritis.

Severe open tibiofibular fractures account for approximately 28.1% of all open fractures. Among them, Gustilo-Anderson type IIIB/C fractures present significant clinical challenges due to associated bone and soft tissue defects, high infection rates, and risk of amputation. Inadequate preoperative assessment may lead to suboptimal emergency surgical planning or intraoperative complications. Historically, external fixation was often preferred, but this approach has been associated with limitations such as restricted joint mobility, delayed bone union, joint stiffness, and disuse osteoporosis, resulting in poor functional recovery. With advancements of debridement techniques, standardization of antibiotic use, and popularization of early soft tissue coverage, early internal fixation has gained broader acceptance. Nevertheless, controversies persist regarding the choice of fixation method, timing of definitive fixation, use of reamed versus unreamed intramedullary nailing, and necessity of fibular fixation. To standardize the diagnosis and early management of severe open tibiofibular fractures, reduce complication rates, and improve functional recovery, the Society of Microsurgery of the Chinese Medical Association organized a panel of domestic experts to develop the Evidence-based guideline for the diagnosis and early fixation of severe open tibiofibular fractures ( version 2025), using evidence-based methodology. The guidelines provided 12 recommendations covering diagnostic and early fixation strategies of severe open tibiofibular fractures, aiming to provide clinicians with scientifically grounded and standardized guidance.

Objective:To evaluate the clinical outcomes of patients with paroxysmal sympathetic hyperactivity (PSH) after moderate to severe brain injury.Methods:Clinical data describing 580 patients of the Rehabilitation Center of Fuxing Hospital with moderate to severe brain injury were analyzed retrospectively. They were divided into a PSH group and a non-PSH group depending on whether PSH attacks occurred. Propensity score matching was performed to create a 1∶1 ratio between the two groups. The patients′ baseline characteristics were analyzed before the matching and with the matched cohorts, and the clinical outcomes of the patients in the matched cohorts were compared.Results:Seventy-five of the patients experienced PSH attacks and were included in the PSH group, while the others formed the non-PSH group. Before matching, the two groups had significant differences in age, atrial fibrillation, hypertension, chest trauma, Glasgow Coma Scale (GCS) score, tracheotomy, hydrocephalus, heart rate at admission, respiration rate, muscle tone, and limited joint activity. After the propensity score matching, 67 patients were included in the PSH and non-PSH groups. The differences in heart rate, respiration rate, muscle tone, and limited joint activity between the two groups at admission were then statistically significant. However, unlike the non-PSH group, the PSH group showed a significant decrease in its average GCS score and Glasgow Outcome Scale (GOS) score at discharge, as well as a significant increase in its average Disability Rating Scale score. Compared with the non-PSH group at the same time point, the GOS score of the PSH group had decreased by 0.47 at discharge ( CI: 0.41-0.56). Then, three months after discharge the average GOS score of the PSH group had decreased by 0.55 ( CI: 0.48-0.61. By six months that was 0.75 ( CI: 0.66-0.82) and by twelve months 0.87 ( CI: 0.77-0.97). Conclusions:PSH can affect the consciousness of patients with moderate to severe brain injury and their ability in the activities of daily life. The prognosis of PSH patients is relatively poor.

Objective:To explore the diagnostic value of serum solute carrier family 7 member 11 (SLC7A11), urinary retinol-binding protein (RBP) and transferrin (TRF) for acute kidney injury (AKI) in patients with sepsis.Methods:The clinical data of 204 patients with sepsis from January 2020 to December 2023 in the Second Affiliated Hospital of Xi′an Medical College were retrospectively analyzed. Among them, 102 patients complicated with AKI (AKI group), including Kidney Disease: Improving Global Outcomes (KDIGO) classification Ⅰ stage 43 cases, Ⅱ stage 36 cases, Ⅲ stage 23 cases; 102 patients did not complicate with AKI (non-AKI group). Additionally, 102 healthy individuals from the same period were selected as a healthy control group. Enzyme-linked immunosorbent assay was used to detect the serum expression level of SLC7A11, and fully automatic biochemical analyzers were used to detect urinary RBP and TRF levels. For patients in AKI group and non-AKI group, the sequential organ failure assessment (SOFA) was recorded; fully automatic analyzers were used to test hematological indicators, including creatinine, hemoglobin, platelet, albumin, uric acid, lactate, procalcitonin and C-reactive protein, and estimated glomerular filtration rate (eGFR) was calculated. Multivariate Logistic regression analysis was used to analyze the independent risk factors of AKI in patients with sepsis. Receiver operating characteristic (ROC) curve was plotted to analyze the values of serum SLC7A11 and urinary RBP, TRF in assessing the risk of AKI in patients with sepsis.Results:The serum SLC7A11 and urinary RBP, TRF in non-AKI group and AKI group were significantly higher than those in healthy control group: (28.66 ± 6.22) and (36.18 ± 7.29) ng/L vs. (14.32 ± 2.63) ng/L, (1.20 ± 0.25) and (1.47 ± 0.31) mg/L vs. (0.44 ± 0.08) mg/L, (1.82 ± 0.39) and (2.26 ± 0.45) mg/L vs. (1.08 ± 0.19) mg/L, furthermore the indexes in AKI group were significantly higher than those in non-AKI group, and there were statistical differences ( P<0.05). The serum SLC7A11 and urinary RBP, TRF in patients with KDIGO Ⅱ stage and Ⅲ stage were significantly higher than those in patients with KDIGO Ⅰ stage: (37.16 ± 7.41) and (45.20 ± 8.29) ng/L vs. (30.53 ± 6.46) ng/L, (1.50 ± 0.28) and (1.72 ± 0.35) mg/L vs. (1.31 ± 0.26) mg/L, (2.26 ± 0.46) and (2.77 ± 0.59) mg/L vs. (1.99 ± 0.40) mg/L, furthermore the indexes in patients with KDIGO Ⅲ stage were significantly higher than those in patients with KDIGO Ⅱ stage, and there were statistical differences ( P<0.05). The SOFA, creatinine and lactate in AKI group were significantly higher than those in non-AKI group: 12 (9, 15) scores vs. 7 (5, 9) scores, (133.71 ± 13.58) μmol/L vs. (108.18 ± 14.32) μmol/L and (13.61 ± 3.57) mmol/L vs. (10.95 ± 3.10) mmol/L, the albumin and eGFR were significantly lower than those in non-AKI group: (21.48 ± 2.48) g/L vs. (24.85 ± 2.83) g/L and (51.57 ± 9.64) ml/(min·1.73 m 2) vs. (59.21 ± 10.67) ml/(min·1.73 m 2), and there were statistical differences ( P<0.01); there were no statistical differences in hemoglobin, platelet, uric acid, procalcitonin and C-reactive protein between two groups ( P>0.05). Multivariate Logistic regression analysis result showed that the high SOFA, creatinine, lactate, SLC7A11, urinary RBP, urinary TRF, and low eGFR, albumin were independent risk factors for AKI in patients with sepsis ( OR = 4.864, 5.631, 2.315, 5.862, 6.852, 6.218, 0.328 and 0.226; 95% CI 1.701 to 13.907, 1.803 to 17.585, 1.350 to 3.969, 2.115 to 16.242, 2.177 to 21.566, 1.900 to 20.353, 0.151 to 0.713 and 0.092 to 0.555; P<0.01). The ROC curve analysis result showed that the area under the curve of the combined assessment of serum SLC7A11 and urinary RBP, TRF for AKI in patients with sepsis was significantly larger than serum SLC7A11 and urinary RBP, TRF alone (0.892 vs. 0.774, 0.765 and 0.755), and there was statistical difference ( Z = 2.97, 3.20 and 3.38; P<0.01). Conclusions:The elevated expression levels of serum SLC7A11 and urinary RBP and TRF in patients with sepsis have a high value for the combined detection and assessment of AKI.

The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.

Objective:The influencing factors of intraoperative hypoxemia in patients with benign central airway stenosis were investigated by machine learning algorithm, and the prediction model of hypoxemia was constructed and verified.Methods:A case-control study was used in this study. The clinical data of 650 patients with benign central airway stenosis who who received surgical treatment in the First Affiliated Hospital of PLA Naval Medical University from June 2022 to April 2024 were retrospectively analyzed. And they were divided into a training set ( n=455) and a test set ( n=195) according to 7:3. The training set was used for establishing Logistic regression model and conducting internal verification, and the test set was used for external verification. The least absolute shrinkage and selection operator (LASSO) regression and Boruta algorithm were used to select the factors affecting intraoperative hypoxemia in patients with benign central airway stenosis. A Logistic regression prediction model was constructed, and the model was evaluated using area under the receiver operating characteristic curve (AUC), decision curve analysis (DCA) and calibration curve. Shapley additive interpretation (SHAP) were used to analyze the importance of influencing factors. Results:Among 650 patients, 279 were males and 371 were females, aged (37.86 ± 8.82) years. Nine feature variables were screened by LASSO regression, while 7 feature variables were screened by Boruta algorithm, the intersection of the two was operation time, complications, degree of airway stenosis, thermal ablation therapy, balloon dilation, and airway stent, respectively, based on this, a logistic regression prediction model was constructed.The AUC values of the training set, validation set and test set of the model were 0.928 (95% CI 0.903-0.954), 0.922 (95% CI 0.843-0.995) and 0.919 (95% CI 0.872-0.965), respectively. The calibration curve showed that the predicted results of the model were in good agreement with the actual results, and the DCA curve showed that the model had clinical application value. SHAP analysis showed that the importance of variables affecting intraoperative hypoxemia in benign central airway stenosis patients was ranked as operation time, thermal ablation therapy, degree of airway stenosis, comorbidification, balloon dilation, and airway stent. Conclusions:The Logistic regression prediction model of intraoperative hypoxemia built based on machine learning algorithm has good prediction efficiency, which is helpful to early identification of risk groups and prevention of hypoxemia.