Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

OBJECTIVE: To investigate the high risk factors of failure of autologous arteriovenous fistula (AVF) in hemodialysis patients. METHODS: A retrospective study was conducted, patients with maintenance hemodialysis (MHD) undergoing AVF admitted to General Hospital of Western Theater Command from January 2021 to December 2022 were enrolled, including 107 patients with normal AVF and 168 patients with AVF dysfanction. According to the causes of AVF failure, the patients were divided into AVF stenosis group (n = 103) and AVF thrombosis group (n = 65). Age, gender, body mass index (BMI) and comorbidities (hypertension, diabetes, coronary heart disease) and other clinical data of all patients were collected. Hemoglobin, hematocrit, white blood cell count, neutrophil count, lymphocyte count, platelet count, C-reactive protein (CRP), high density lipoprotein, low density lipoprotein, neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR) within 1 month of AVF use in normal dialysis patients and 1 week before AVF failure. Multivariate Logistic regression was used to analyze the independent risk factors of AVF dysfuction in MHD patients. The receiver operator characteristic curve (ROC curve) was drawn to evaluate the predictive value of risk factors on AVF dysfuction in MHD patients. RESULTS: (1) There were significant differences in age, BMI, hypertension, hemoglobin, hematocrit, PLR and CRP [age (years): 56.94±14.32, 58.83±14.05, 51.57±13.19; BMI (kg/m²): 22.83±3.10, 21.27±4.98, 23.35±2.72; hypertension: 93.20%, 64.62%, 86.92%; hemoglobin (g/L): 110.82±22.16, 88.70±24.00, 87.95±23.45; hematocrit: 0.350±0.069, 0.282±0.076, 0.275±0.071; PLR: 197.35±113.59, 192.55±138.25, 162.12±73.25; CRP (mg/L): 10.01±4.02, 8.18±5.42, 3.17±1.30, all P < 0.05], among AVF stenosis group, AVF thrombosis group and AVF normal group, there were statistically significant differences no statistically significant difference was found in other indexes among three groups. (2) Multivariate Logistic regression analysis showed that hypertension [odds ratio (OR) = 4.849, 95% confidence interval (95%CI) was 1.278-18.397, P = 0.020], elevated CRP levels (OR = 2.104, 95%CI was 1.533-2.888, P = 0.000) were associated with AVF stenosis. Elevated CRP levels (OR = 1.984, 95%CI was 1.442-2.730, P = 0.000) was an independent risk factor for AVF thrombosis. Analysis of ROC curve showed that the area under the curve (AUC) of AVF dysfunction predicted by CRP was 0.712, 95%CI was 0.637-0.786, P = 0.000; CRP cut-off value was 1.8 mg/L, the sensitivity was 67.0%, the specificity was 83.7%. CONCLUSIONS Elevated CRP is an independent risk factor for AVF failure in hemodialysis patients, which can be used to predict the occurrence of AVF failure.
Humans ; Retrospective Studies ; Constriction, Pathologic ; Renal Dialysis/adverse effects* ; Lymphocytes ; C-Reactive Protein ; Risk Factors ; Hypertension ; Hemoglobins ; Thrombosis ; ROC Curve ; Prognosis

【Objective】 To make transfusion management strategies for patients with history of blood transfusion and/or pregnancy by following up a patient with delayed hemolytic transfusion reactions(DHTR) caused by unexpected antibody produced after blood transfusion. 【Methods】 ABO, Rh, MN and Kidd blood group test, direct antiglobulin test, unexpected antibody screening, antibody identification, antibody titer detection, and cross-matching test were performed on a patient with DHTR. Meanwhile, suitable red blood cells were screened for subsequent treatment. 【Results】 The patient′s blood group was B, RhD(+ ) and CCDee, the antibody screening test and cross-matching test were negative before the first transfusion. After eight days, hemoglobin of the patient decreased to 57 g/L and the laboratory results indicated delayed hemolysis, the antibody screening was positive, and the antibody identification result was anti-M, as RBCs of the patient received typed as M+ N+. After the patient received M antigen negative RBCs, the laboratory test results still indicated delayed serologic transfusion reaction. A new antibody arose and was identified as anti-Jk^a while RBCs transfused were M-N+ and Jk(a+ b-). Afterwards, it was effective for the patient to receive B, RhD(+ ), M-N+ and Jk(a-b+ ) RBCs. 【Conclusion】 Most of the homologous antibodies produced by patients after blood transfusion will disappear within a few years. When patients undergo another transfusion, DHTR may occur because of anamnestic reaction. Establishing a transfusion management document and creating a card for patients who have already produced RBC alloantibodies can greatly reduce the occurrence of DHTR by informing doctors and staff when the next transfusion is needed.