Objective To investigate the characteristics of body fluid metabolic profile in patients with kidney stones based on surface-enhanced Raman spectroscopy,and to explore its application value and provide a reference for the screening of patients with kidney stones.Methods A total of 25 patients with kidney stones and 25 healthy controls were involved.Urine and blood samples were collected,whose spectra were measured with surface-enhanced Raman spectroscopy.The mean and difference spectra were plotted with origin software.The normalized data were processed with principal component analysis combined with linear discriminant analysis(PCA-LDA).Finally,the performance of the PCA-LDA method was evaluated with the receiver operating characteristic(ROC)curve.Results The levels of phosphatidylinositol,phenylalanine,palmitic acid/fatty acids,etc.in the urine of patients with kidney stones are higher than those in healthy controls,while the levels of components such as uracil and glycogen are lower.The content of methyl bands in the plasma of patients with kidney stones is higher than that of healthy controls,while the contents of glycogen,phosphatidylinositol,protein-tyrosine,phenylalanine,palmitic acid/fatty acid,hydroxyproline/tyrosine,and lipids are lower than those of healthy controls.Conclusion Surface-enhanced Raman spectroscopy can identify the changes in various metabolites in patients with kidney stones,and the combination of PCA-LDA and ROC analysis is helpful for the screening of patients.

Objective:To investigate and analyze the mutation of homeobox D13 (HOXD13) gene in a pedigree with synpolydactyly.Methods:The data of a pedigree with synpolydactyly who were treated by the First Affiliated Hospital of Fujian Medical University in August 2013 were collected. The proband and all members were diagnosed based on clinical manifestations, imaging, and family history. Genomic DNA was extracted from peripheral blood of some members in the pedigree. The HOXD13 gene was identified by polymerase chain reaction (PCR) and DNA sequence analysis.Results:Among the 35 members of this 4-generation family, 12 patients were affected(5 males and 7 females), and the proband was a 20 years old female patient. All the patients had bilateral 3rd and 4th syndactyly with clinodactyly, which could not be extended, and the remaining fingers could move freely. The foot showed unilateral or bilateral 4th and 5th syndactyly with polydactyly in soft tissue web, which was consistent with the typical autosomal dominant synpolydactyly phenotypic characteristics. The analysis of HOXD13 gene in 19 family members (12 normal members and 7 patients) showed that the nucleotide sequences of HOXD13 gene in 12 normal members were normal, and 9 alanine residues were inserted into the polyalanine chain of the first exon 1 of HOXD13 gene in the 7 patients, which extended the alanine residue base from the normal 15 to 24.Conclusions:The pathogenic mutation of HOXD13 gene in this pedigree was the extension mutation of polyalanine chain, which resulted in the typical synpolydactyly.

Objective:To investigate and analyze the mutation of homeobox D13 (HOXD13) gene in a pedigree with synpolydactyly.Methods:The data of a pedigree with synpolydactyly who were treated by the First Affiliated Hospital of Fujian Medical University in August 2013 were collected. The proband and all members were diagnosed based on clinical manifestations, imaging, and family history. Genomic DNA was extracted from peripheral blood of some members in the pedigree. The HOXD13 gene was identified by polymerase chain reaction (PCR) and DNA sequence analysis.Results:Among the 35 members of this 4-generation family, 12 patients were affected(5 males and 7 females), and the proband was a 20 years old female patient. All the patients had bilateral 3rd and 4th syndactyly with clinodactyly, which could not be extended, and the remaining fingers could move freely. The foot showed unilateral or bilateral 4th and 5th syndactyly with polydactyly in soft tissue web, which was consistent with the typical autosomal dominant synpolydactyly phenotypic characteristics. The analysis of HOXD13 gene in 19 family members (12 normal members and 7 patients) showed that the nucleotide sequences of HOXD13 gene in 12 normal members were normal, and 9 alanine residues were inserted into the polyalanine chain of the first exon 1 of HOXD13 gene in the 7 patients, which extended the alanine residue base from the normal 15 to 24.Conclusions:The pathogenic mutation of HOXD13 gene in this pedigree was the extension mutation of polyalanine chain, which resulted in the typical synpolydactyly.

OBJECTIVETo investigate the value of serum IgA/C3 ratio in the diagnosis of IgA nephropathy and explore its relationship with the clinicopathological features of the patients.

METHODSSixty-six patients with IgA nephropathy, 111 with other glomerular diseases, and 40 healthy control subjects without kidney disease were tested for serum IgA and C3 levels using CRM470 adjusted standardized immune turbidimetric method, and the IgA/C3 ratio was calculated. According to Oxford and Lee's classification criteria, we analyzed the pathological grades of the renal biopsy samples from patients with IgA nephropathy. The ROC curve was used to assess the value of serum IgA and IgA/C3 ratio in predicting IgA nephropathy.

RESULTSPatients with IgA nephropathy had an elevated serum IgA/C3 ratio than those with other glomerular diseases and the control subjects, with an area under the ROC curve of 0.776. An elevated serum IgA/C3 ratio was not found to significantly correlate with the pathological grade of renal biopsy samples in patients with IgA nephropathy.

CONCLUSIONIn the absence of renal biopsy findings, serum IgA/C3 ratio can help in the diagnosis of IgA nephropathy.

Biopsy ; Case-Control Studies ; Complement C3 ; analysis ; Glomerulonephritis, IGA ; blood ; diagnosis ; Humans ; Immunoglobulin A ; blood ; Kidney ; pathology

Objective To investigate the value of serum IgA/C3 ratio in the diagnosis of IgA nephropathy and explore its relationship with the clinicopathological features of the patients. Methods Sixty-six patients with IgA nephropathy, 111 with other glomerular diseases, and 40 healthy control subjects without kidney disease were tested for serum IgA and C3 levels using CRM470 adjusted standardized immune turbidimetric method, and the IgA/C3 ratio was calculated. According to Oxford and Lee's classification criteria, we analyzed the pathological grades of the renal biopsy samples from patients with IgA nephropathy. The ROC curve was used to assess the value of serum IgA and IgA/C3 ratio in predicting IgA nephropathy. Results Patients with IgA nephropathy had an elevated serum IgA/C3 ratio than those with other glomerular diseases and the control subjects, with an area under the ROC curve of 0.776. An elevated serum IgA/C3 ratio was not found to significantly correlate with the pathological grade of renal biopsy samples in patients with IgA nephropathy. Conclusion In the absence of renal biopsy findings, serum IgA/C3 ratio can help in the diagnosis of IgA nephropathy.

Objective To investigate the value of serum IgA/C3 ratio in the diagnosis of IgA nephropathy and explore its relationship with the clinicopathological features of the patients. Methods Sixty-six patients with IgA nephropathy, 111 with other glomerular diseases, and 40 healthy control subjects without kidney disease were tested for serum IgA and C3 levels using CRM470 adjusted standardized immune turbidimetric method, and the IgA/C3 ratio was calculated. According to Oxford and Lee's classification criteria, we analyzed the pathological grades of the renal biopsy samples from patients with IgA nephropathy. The ROC curve was used to assess the value of serum IgA and IgA/C3 ratio in predicting IgA nephropathy. Results Patients with IgA nephropathy had an elevated serum IgA/C3 ratio than those with other glomerular diseases and the control subjects, with an area under the ROC curve of 0.776. An elevated serum IgA/C3 ratio was not found to significantly correlate with the pathological grade of renal biopsy samples in patients with IgA nephropathy. Conclusion In the absence of renal biopsy findings, serum IgA/C3 ratio can help in the diagnosis of IgA nephropathy.