Objective To explore the relationship between adipocyte fatty acid binding protein (A-FABP) and lower limb vascular disease (LLVD) in the elderly with type 2 diabetes(T2DM).Methods Bilateral lower limb vessels were checked by the High Resolution Color Doppler in all the subjects,including 40 healthy subjects as control (group A),126 T2DM patients.42 T2DM patients had no LLVD (group B),40 had mild LLVD (group C),and 44 had severe LLVD (group D).The levels of plasma A-FABP,blood glucose,lipid profiles,HOMA-IR,hypersensitive C reactive protein (hs CRP),and e-glomerular filtration rate were determined.Results The levels of plasma A-FABP were in the following ascending order of group A(4.5± 1.7)μg/L＜group B(6.1±2.1)μg/L＜group C (7.2 ± 2.3)μg/L ＜ group D (8.4 ± 3.2)μg/L (P＜ 0.01).A-FABP levels elevated along with the decrease of ABI and the increase of L IMT.Multiple logistic regression analysis showed that A FABP levels was main influencing factor of lower limb vascular disease (LLVD) in the elderly with type 2 diabetes.LDL C,HbA1c,HOMR-IR,hs-CRP were the predictive factors for the plasma A-FABP levels in the elderly with T2DM after multiple stepwise regression analysis.Conclusions For elder T2DM patients,the level of plasma A FABP is correlated with the degree of LLVD,and plays an important role in the progress of LLVD.

d, suggesting that the mutation rate of SDHB gene in sporadic Chinese patients with pheochromocytoma might be around 3%.

OBJECTIVE: To analyze the clinical characteristics and genetic features of a family affected with isolated proteinuria. METHODS: Clinical data of the family was collected. Mutations of 191 renal disease-related genes in the proband were screened with next generation sequencing (NGS). Sanger sequencing was used to verify suspected mutations in his family members and 100 healthy controls. The impact of the mutation was predicted with online software SIFT. Frequency of the mutation was searched in databases including 1000 Genomic Project, ESP and ExAC. RESULTS: NGS and Sanger sequencing showed that the proband harbored compound heterozygous mutations of ADCK4 gene including c.748C>G (p.Asp250His) and c.1041G>T (p.Cys347*), which were respectively inherited from his mother and father whom were both non-symptomatic. CONCLUSION The proband may have ADCK4-associated glomerulopathy due to the compound heterozygous mutations of the ADCK4 gene.
DNA Mutational Analysis ; Family ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Proteinuria ; genetics

Objective To investigate the etiological and clinical features of patients with unexplained liver disease manifesting as isolated jaundice and the value of whole-exome sequencing in the diagnosis of such diseases. Methods A retrospective analysis was performed for the clinical data of the patients who attended Nanjing Second Hospital due to unexplained liver disease and underwent whole-exome sequencing from February 2017 to December 2021, and according to liver function parameters and imaging data, all cases were classified based on clinical phenotype and were diagnosed based on the whole-exome sequencing report. The Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the Kruskal-Wallis H test was used for comparison between multiple groups. Results A total of 519 patients underwent whole-exome sequencing, among whom 102 patients with missing or incomplete clinical data were excluded, and finally 417 patients were included in analysis, among whom 91(91/417, 21.82%) had the manifestation of isolated jaundice. The etiology of jaundice was not determined by whole-exome sequencing in 8 patients (8/91, 8.79%). With reference to genetic testing results, 83 patients (83/91, 91.21%) had a confirmed diagnosis, among whom there were 68 patients with hereditary hyperbilirubinemia (68/91, 74.72%), 3 patients with hereditary spherocytosis (3/91, 3.30%), 2 patients with pyruvate kinase deficiency (2/91, 2.20%), and 10 patients with UGT1A1 gene disease combined with other diseases (10/91, 10.99%). Hereditary hyperbilirubinemia was the main etiology, and there were 61 patients with UGT1A1 gene disease (61/91, 67.03%), 5 patients with Dubin-Johnson syndrome (5/91, 5.49%) and 2 patients with Rotor syndrome (2/91, 2.20%). There was a significant difference in indirect bilirubin/total bilirubin ratio between the patients with the different diagnoses above ( H =22.835, P < 0.05), and the patients with UGT1A1 gene disease and other diseases had a significantly higher level of total bilirubin than those with UGT1A1 gene disease alone [95.8 (37.5-187.1) μmol/L vs 51.4 (34.8-267.1) μmol/L, Z =-2.372, P =0.018]. Conclusion Whole-exome sequencing can help with the diagnosis of most cases of unexplained liver disease manifesting as isolated jaundice. Hereditary hyperbilirubinemia is the main etiology, and UGT1A1 gene disease is the most common disease. Whole-exome sequencing can assist the clinical diagnosis of unexplained liver disease manifesting as isolated jaundice.

The latest epidemiological data suggests that the situation of adult diabetes in China is severe, and metabolic diseases have become significant chronic illnesses that have a serious impact on public health and social development. After more than six years of practice, the National Metabolic Management Center(MMC) has developed distinctive approaches to manage metabolic patients and has achieved a series of positive outcomes, continuously advancing the standardized diagnosis and treatment model. In order to further improve the efficiency, based on the first edition, the second edition guideline was composed by incorporating experience of the past six years in conjunction with the latest international and domestic guidelines.