Objective: To investigate the hematological characteristics of the rare McLeod phenotype associated with X-linked chronic granulomatous disease, KEL and XK gene analysis, identification of unexpected antibodies, serological characteristics of high-frequency antigen antibodies, and transfusion strategies. Methods: Serological methods were employed to determine the ABO, Rh, and other blood group system antigen phenotypes of the child, along with screening and identification of unexpected antibodies. The titers of high-frequency antigen antibodies were measured using tube antihuman globulin and microcolumn gel card techniques. Kell blood group typing was performed using serological and genotyping methods, while XK gene sequencing was conducted via next-generation sequencing. Peripheral blood smears from the child's mother were examined for erythrocyte morphology. Results: The child's serological results were as follows: blood group O, ccDEE, MM, Le(a-b+), JK(a+b+), Fy(a+b-), and Kell phenotype K-k+, Kp(a-b+). Plasma analysis revealed alloantibodies anti-C、e, as well as a high-frequency antigen antibody anti-KL, with titers of 512 (tube method) and 2 048 (microcolumn gel method). Genotyping results showed KEL genotype K-k+, Kp(a-b+), Js(a-b+), while XK gene NGS identified a hemizygous deletion of exons 1-3 (XK N. 01), consistent with XK: -1 or Kx-(McLeod). The mother's peripheral blood smear exhibited prominent acanthocytes. Conclusion: The hematological features of this rare McLeod phenotype with X-CGD include weakened Kell antigen expression and a complete exon deletion in the XK gene. Early clinical attention should be given to the symptoms and laboratory diagnosis of X-linked chronic granulomatous disease in pediatric patients. XK genotyping for McLeod phenotype should be prioritized to guide cautious transfusion strategies, preventing life-threatening complications due to incompatible blood products.

OBJECTIVE: To observe the effect of acupuncture on chondrocyte autophagy in rats of knee osteoarthritis (KOA) and explore its underlying mechanisms. METHODS: Forty male SPF-grade SD rats were randomized into a blank group, a model group, a suspension group, an acupuncture group, and a combined therapy group, 8 rats in each one. Except the blank group, KOA model was prepared by the injection with papain. The suspension exercise therapy (10 min each time, three times daily), acupuncture (at "Yanglingquan" [GB34], "Zusanli" [ST36], and "Dubi" [ST35] on the right side, 30 min each intervention, once daily) and the combined therapy (the suspension exercise therapy combined with acupuncture) were delivered in the suspension group, the acupuncture group and the combined therapy group, respectively. The intervention of each group was performed continuously for 6 days, and 4 consecutive weeks, at the interval of 1 day. Before and after intervention, Lequesne MG score was assessed in the rats. After intervention, HE staining was adopted to observe the cartilaginous tissue morphology of the right knee joints, and Mankin score was evaluated; the serum levels of interleukin (IL)-1β, IL-6, and tumor neurosis factor-α (TNF-α) were measured using ELISA; the real-time PCR was provided to determine the mRNA expression of collagen protein type Ⅱ(COL2), collagen protein type Ⅹ (COL10), phosphatidylinositol 3-kinase (PI3K), protein kinase B (Akt), mammalian target of rapamycin (mTOR), and autophagy-regulated protein (Beclin-1) in the cartilaginous tissue of the right knee joint; Western blot was employed to detect the protein expression of PI3K, phosphorylated PI3K (p-PI3K), Akt, phosphorylated Akt (p-Akt), mTOR, phosphorylated mTOR (p-mTOR) and Beclin-1 in the cartilaginous tissue of the right knee joint. RESULTS: Compared with the blank group, the rats in the model group showed the higher Lequesne MG score (P<0.01), thinner cartilage of the right knee, reduced chondrocytes and disordered arrangement, and higher Mankin score (P<0.01). Besides, in the model group, the serum levels of IL-1β, IL-6 and TNF-α were elevated (P<0.01), the mRNA expression of COL2 and Beclin-1 and the protein expression of Beclin-1 decreased (P<0.01), the mRNA expression of COL10, PI3K, Akt and mTOR, and the protein expression of p-PI3K, p-Akt and p-mTOR increased (P<0.01) in the cartilaginous tissue of the right knee joint. Compared with the model group, in the suspension group, the acupuncture group and the combined therapy group, the Lequesne MG scores were reduced (P<0.01), the cartilage of the right knee was thickened, the arrangement of chondrocytes was improved, and the Mankin scores were lower (P<0.01). Besides, in these intervention groups, the serum levels of IL-1β, IL-6 and TNF-α were reduced (P<0.01), the mRNA expression of COL2 and Beclin-1 and the protein expression of Beclin-1 increased (P<0.05, P<0.01), the mRNA expression of COL10, PI3K, Akt and mTOR, and the protein expression of p-PI3K, p-Akt and p-mTOR decreased (P<0.05, P<0.01) in the cartilaginous tissue of the right knee joint. When compared with the suspension group and the acupuncture group, in the combined therapy group, the Lequesne MG score was reduced (P<0.01), and the Mankin score was reduced (P<0.05, P<0.01). Besides, the serum levels of IL-1β, IL-6 and TNF-α were reduced (P<0.05), the mRNA expression of COL2 and Beclin-1 and the protein expression of Beclin-1 increased (P<0.05), the mRNA expression of COL10, PI3K, Akt and mTOR, and the protein expression of p-PI3K, p-Akt and p-mTOR decreased (P<0.05, P<0.01) in the cartilaginous tissue of the right knee joint. CONCLUSION Acupuncture can promote cartilage regeneration of knee joint and autophagy in KOA rats, alleviate inflammation, so as to retard cartilage degeneration, which may be possibly associated with the PI3K/Akt/mTOR signaling pathway.
Animals ; Male ; Acupuncture Therapy ; Proto-Oncogene Proteins c-akt/genetics* ; TOR Serine-Threonine Kinases/genetics* ; Osteoarthritis, Knee/physiopathology* ; Phosphatidylinositol 3-Kinases/genetics* ; Rats ; Signal Transduction ; Rats, Sprague-Dawley ; Chondrocytes/metabolism* ; Humans ; Autophagy ; Acupuncture Points

Objective To analyze the research hotspots and frontier trends in the field of physical therapy for Parkinson's disease(PD)from 2014 to 2023.Methods Relevant literatures published from January,2014 to December,2023 were retrieved from the Web of Science Core Collection.CiteSpace 6.3.R1 was used to conduct bibliometric analysis,generating visual maps of coun-tries,institutions,keyword co-occurrence,burst terms,timelines and clustering,and they were summarized based on both visual results and literature content.Results A total of 400 articles were included.The United States had the highest publication volume,followed by China,Italy and Brazil,and the international collaboration was relatively active.Major contributing institutions included Northwestern University,Rush University,Karolinska Institutet and Universidade de S?o Paulo.Keyword co-oc-currence analysis showed that researches mainly focused on interventions such as exercise,postural control,aero-bic exercise and transcranial direct current stimulation.Burst detection analysis showed that keywords with high attention in recent years included motor symptoms,executive function,resistance training and noninvasive brain stimulation.The timeline map indicated a shift in research themes from early focus on electrical stimulation to in-tegrated interventions involving both motor and cognitive functions.Conclusion Over the past decade,researches on physical therapy for PD has shown steady growth,with increasing diver-sity in intervention strategies.There is a clear trend toward multidimensional integration and interdisciplinary col-laboration.Future studies should strengthen interventions targeting non-motor symptoms and promote the clinical application of new rehabilitation technologies.

Objective To investigate the presumed correlation between lactate level and clearance during extracorporeal life support(ECLS)and death in elderly cardiac intensive care patients.Methods A total of 93 elderly cardiac intensive care patients who received ECLS in Department of Critical Care Medicine,Xiangya Medical College Affiliated Changsha Hospital,Central South University,from March 2019 to October 2024 were retrospectively included to manage low cardiac production syndrome after major cardiac surgery.According to hospital outcomes,the patients were divided into a death group(n=45)and a survival group(n=48).Blood lactate measurements were performed every 4 hours from the beginning of ECLS treatment to calculate peak lactate and lactate clearance rate(LCR).Routine ICU scores,such as sequential organ failure score(SOFA)and reactive organ dysfunction(ROD)score,and postoperative complications were recorded.Results The death group received larger amounts of packed red blood cell concentrate,fresh frozen plasma and platelet concentrate,and exhibited higher ratios of norepinephrine and epinephrine administration and higher incidences of re-thoracotomy and hemolytic episodes when compared with the survival group(P＜0.05,P＜0.01).At the end of ECLS,higher SOFA and ROD scores were observed in the death group(P＜0.01).The death group also demonstrated higher lactate level from venoarterial ECLS(P＜0.001)and increased median peak lactate level,but lower median LCR than the survival group(P＜0.01).Multivariate logistic analysis showed that peak lactate and LCR were independent prognostic factors in the elderly cardiac ICU patients(P＜0.05,P＜0.01).The AUC value(95％CI)of peak lactate and LCR in predicting patient outcomes was 0.723(95％CI:0.615-0.831)and 0.846(95％CI:0.761-0.932),respectively,and the value of their combination in predicting in-hospital death was 0.846(95％CI:0.762-0.931),with a sensitivity of 0.629 and a specificity of 0.937.Conclusion Lactate level and its clearance rate during ECLS can affect the survival rate of elderly cardiac intensive care patients.Peak lactate and LCR can predict the prognosis of elderly cardiac intensive care patients,and can be used as prognostic indicators for clinical monitoring.

Objective To analyze the research hotspots and frontier trends in the field of physical therapy for Parkinson's disease(PD)from 2014 to 2023.Methods Relevant literatures published from January,2014 to December,2023 were retrieved from the Web of Science Core Collection.CiteSpace 6.3.R1 was used to conduct bibliometric analysis,generating visual maps of coun-tries,institutions,keyword co-occurrence,burst terms,timelines and clustering,and they were summarized based on both visual results and literature content.Results A total of 400 articles were included.The United States had the highest publication volume,followed by China,Italy and Brazil,and the international collaboration was relatively active.Major contributing institutions included Northwestern University,Rush University,Karolinska Institutet and Universidade de S?o Paulo.Keyword co-oc-currence analysis showed that researches mainly focused on interventions such as exercise,postural control,aero-bic exercise and transcranial direct current stimulation.Burst detection analysis showed that keywords with high attention in recent years included motor symptoms,executive function,resistance training and noninvasive brain stimulation.The timeline map indicated a shift in research themes from early focus on electrical stimulation to in-tegrated interventions involving both motor and cognitive functions.Conclusion Over the past decade,researches on physical therapy for PD has shown steady growth,with increasing diver-sity in intervention strategies.There is a clear trend toward multidimensional integration and interdisciplinary col-laboration.Future studies should strengthen interventions targeting non-motor symptoms and promote the clinical application of new rehabilitation technologies.

Objective To investigate the presumed correlation between lactate level and clearance during extracorporeal life support(ECLS)and death in elderly cardiac intensive care patients.Methods A total of 93 elderly cardiac intensive care patients who received ECLS in Department of Critical Care Medicine,Xiangya Medical College Affiliated Changsha Hospital,Central South University,from March 2019 to October 2024 were retrospectively included to manage low cardiac production syndrome after major cardiac surgery.According to hospital outcomes,the patients were divided into a death group(n=45)and a survival group(n=48).Blood lactate measurements were performed every 4 hours from the beginning of ECLS treatment to calculate peak lactate and lactate clearance rate(LCR).Routine ICU scores,such as sequential organ failure score(SOFA)and reactive organ dysfunction(ROD)score,and postoperative complications were recorded.Results The death group received larger amounts of packed red blood cell concentrate,fresh frozen plasma and platelet concentrate,and exhibited higher ratios of norepinephrine and epinephrine administration and higher incidences of re-thoracotomy and hemolytic episodes when compared with the survival group(P＜0.05,P＜0.01).At the end of ECLS,higher SOFA and ROD scores were observed in the death group(P＜0.01).The death group also demonstrated higher lactate level from venoarterial ECLS(P＜0.001)and increased median peak lactate level,but lower median LCR than the survival group(P＜0.01).Multivariate logistic analysis showed that peak lactate and LCR were independent prognostic factors in the elderly cardiac ICU patients(P＜0.05,P＜0.01).The AUC value(95％CI)of peak lactate and LCR in predicting patient outcomes was 0.723(95％CI:0.615-0.831)and 0.846(95％CI:0.761-0.932),respectively,and the value of their combination in predicting in-hospital death was 0.846(95％CI:0.762-0.931),with a sensitivity of 0.629 and a specificity of 0.937.Conclusion Lactate level and its clearance rate during ECLS can affect the survival rate of elderly cardiac intensive care patients.Peak lactate and LCR can predict the prognosis of elderly cardiac intensive care patients,and can be used as prognostic indicators for clinical monitoring.

OBJECTIVES: Tubulointerstitial diseases is one of the common causes of renal dysfunction. Some rare pathological types are easy to be misdiagnosed and missedly diagnosed because of their low prevalence and relatively insufficient understanding, which affects the treatment and prognosis of patients. This study aims to explore clinical manifestations and pathological characteristics of several rare tubulointerstitial diseases, and therefore to improve their diagnosis and treatment. METHODS: A total of 9 363 patients diagnosed by renal biopsy in the Department of Nephrology, Second Xiangya Hospital, Central South University from November 2011 to September 2021 were selected. Six cases of light chain cast nephropathy (LCCN), 2 cases of light chain proximal tubulopathy (LCPT), 1 case of LCCN with LCPT, 4 cases of genetic tubulointerstitial disease, and 6 cases of non-genetic related tubulointerstitial lesion were screened out, and their clinical manifestations and renal biopsy pathological results were collected, compared, and analyzed. RESULTS: Patients with LCCN presented with mild to moderate anemia, microscopic hematuria, and mild to moderate proteinuria. Compared with patients with LCPT, proteinuria and anemia were more prominent in patients with LCCN. Five patients with LCCN and 2 patients with LCPT had elevated serum free kappa light chain. Five patients with LCCN presented clinically with acute kidney injury (AKI). Two patients with LCPT and 1 patient with LCCN and LCPT showed CKD combined with AKI, and 1 LCPT patient presented with typical Fanconi syndrome (FS). Five patients with LCCN, 2 patients with LCPT, and 1 patient with LCCN and LCPT were diagnosed with multiple myeloma. Five patients with LCCN had kappa light chain restriction in tubules on immunofluorescence and a "fractured" protein casts with pale periodic acid-Schiff (PAS) staining on light microscopy. Immunohistochemical staining of 2 LCPT patients showed strongly positive kappa light chain staining in the proximal tubular epithelial cells. And monoclonal light chain crystals in crystalline LCPT and abnormal lysosomes and different morphological inclusion bodies in noncrystalline LCPT were observed under the electron microscope. Six patients with LCCN were mainly treated by chemotherapy. Renal function was deteriorated in 1 patient, was stable in 4 patients, and was improved in 1 patient. Two patients with LCPT improved their renal function after chemotherapy. Four patients with genetic tubulointerstitial disease were clinically presented as CKD, mostly mild proteinuria, with or without microscopic hematuria, and also presented with hyperuricemia, urine glucose under normal blood glucose, anemia, polycystic kidneys. Only 1 case had a clear family history, and the diagnosis was mainly based on renal pathological characteristics and genetic testing. Compared with patients with non-genetic related tubulointerstitial lesion, patients with genetic tubulointerstitial disease had an earlier age of onset, higher blood uric acid, lower Hb and estiated glomemlar fitration (eGFR), and less edema and hypertension. Renal pathology of genetic tubulointerstitial disease presented tubular atrophy and interstitial fibrosis, abnormal tubular dilation, glomerular capsuledilation, and glomerular capillary loop shrinkage. Glomerular dysplasia and varying degrees of glomerular sclerosis were observed. Genetic tubulointerstitial disease patients were mainly treated with enteral dialysis, hypouricemic and hypoglycemic treatment. Two genetic tubulointerstitial disease patients had significantly deteriorated renal function, and 2 patients had stable renal function. CONCLUSIONS Patients with AKI or FS, who present serum immunofixation electrophoresis and/or serum free kappa light chain abnormalities, should be alert to LCCN or LCPT. Renal biopsy is a critical detection for diagnosis of LCCN and LCPT. Chemotherapy and stem cell transplantation could delay progression of renal function in patients with LCCN and LCPT. If the non-atrophic area of the renal interstitium presents glomerular capsule dilatation, glomerular capillary loop shrinkage, and abnormal tubular dilatation under the light microscopy, genetic tubulointerstitial disease might be considered, which should be traced to family history and can be diagnosed by genetic testing.
Humans ; Hematuria ; Immunoglobulin Light Chains/analysis* ; Multiple Myeloma ; Proteinuria ; Nephritis, Interstitial ; Acute Kidney Injury ; Anemia ; Renal Insufficiency, Chronic

Objective To explore the clinical effect of Habib 4X bipolar radiofrequency ablation assisted laparoscopic partial nephrectomy without blockage of renal artery for treatment of renal cell carcinoma (RCC).MethodsBetween October 2010 and June 2011, 14 patients with exophytic RCC (T1N0M0) were treated with Laparoscopic Partial Nephrectomy with (LRA) or without (LPN) Habib 4X Bipolar Radiofrequency ablation assisted.The LRA group included 6 patients,and the maximum tumor diameter was 2.1 - 3.5 cm (mean,3.1 cm).The LPN group included 8 patients,and the maximum tumor diameter was 2.0 -3.7 cm (mean,3.0 cm).The operative time,average intra-operative blood loss,postoperative hospital stay and incidence of postoperative complications were recorded.Changes of hemoglobin (Hb),serum creatinine (SCr) and ipsilateral glomerular filtration rate (GFR) before and after operation were analyzed and compared. Results The 14 surgical procedures were successful without conversion to open operation.In LRA group,renal artery blocking was unnecessary,the Hb,SCr and GFR before and after operation were (127 ± 19) g/L vs.(124 ± 19) g/L、(96 ±39) μmol/L vs.(92 ±29) μmol/L and (42 ± 12) ml/min vs.(40 ± 13) ml/min,respectively,and the difference was not significant (P ＞0.05).In LPN group,the renal artery blocking time was 20-52 min (mean,32 min),the Hb,SCr and GFR before and after operations were (130±17) g/L vs.(112±15) g/L,(92 ±31) μ mol/L vs.(110±28)μmol/L and (43 ± 14) ml/min vs.(30 ± 11 ) ml/min respectively,and the difference was significant (P ＜0.05 ).The operative time was ( 86 ± 20) min and ( 112 ± 43 ) min,the estimated blood loss was (94 ± 18)ml and (256 ± 58) ml,and the postoperative hospital stay was (5.0 ± 0.8) d and (7.8 ± 1.2 ) d,respectively.The difference between the two groups was significant (P ＜ O.05).Complications such as bleeding,gross hematuria,and leakage of urine were noted in LRA group. Conclusions Habib 4X Bipolar Radiofrequency ablation assisted LPN without blockage of renal artery is a safe and effective intervention with a relatively low incidence of complications.And it is superior to LPN in operative time,intraoperative blood loss and postoperative recovery.