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AIM: Our previous study demonstrated that the cystatin C-based chronic kidney disease (CKD)-EPI equation and combined by serum creatinine (CKD-EPIscr-cys) had better capability to accurately evaluate glomerular filtration rate in the CKD participants. Considering that the accuracy of estimated glomerular filtration rate (eGFR) remains less ideally, it is essential to modify the equation by including the Chinese eGFR racial factor in order to improve its performance. METHODS: Two prospective cohorts were enrolled in 2 medical centers. New equations were developed in 529 participants and validated in 313 participants. Reference glomerular filtration rate (rGFR) was taken by 99mTc-DTPA renal dynamic imaging method (Gates method). The primary outcomes of this study were bias, precision (interquartile range of difference [IQR]), and accuracy (the proportion of eGFR within 30% of rGFR [P30] and root mean square error [RMSE]) of eGFR versus rGFR. RESULTS: In a development data set, Chinese coefficients for CKD-EPIscr (C-CKD-EPIscr), CKD-EPIcys (C-CKD-EPIcys), and CKD-EPIscr-cys (C-CKD-EPIscr-cys) were 0.871, 0.879, and 0.891, respectively. In a validation data set, C-CKD-EPIcys was the most accurate with highest P30 value (62.3%), relative lowest IQR (15.45), and RMSE (0.80) among 6 equations, though the bias of C-CKD-EPIcys was not better than CKD-EPIcys. C-CKD-EPIscr and C-CKD-EPIscr-cys equations were improved in bias (p < 0.001), -precision, and accuracy (p = 0.004 and <0.001 for P30) compared with CKD-EPIscr and CKD-EPIscr-cys. CONCLUSION: C-CKD-EPIcys was the most accurate with the highest P30 value, relative lowest IQR, and RMSE among 6 equations. C-CKD-EPIscr and C-CKD-EPIscr-cys equations were improved in bias, precision, and accuracy. Other external validation of these equations is needed.
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Creatinina/sangre , Cistatina C/sangre , Tasa de Filtración Glomerular , Modelos Teóricos , Adulto , Anciano , China , Exactitud de los Datos , Femenino , Humanos , Masculino , Estudios Prospectivos , Reproducibilidad de los ResultadosRESUMEN
This study was to explore the association between thyroid dysfunction and albuminuria. 581 cases with chronic kidney disease (CKD) were included in this study. The clinical characteristics consisted of sex, age, serum creatinine, urinary albumin-to-creatinine ratio (ACR), thyroid function were recorded. Estimated glomerular filtration rate (eGFR) was calculated by CKD-EPI four-level race equation. Prevalence of different thyroid diseases was calculated by chi-square test. Levels of thyroid hormone were compared among different albuminuria groups by Kruskal-Wallis test. Spearman's correlation was used to assess the association between albuminuria and thyroid hormone. Our study showed that total T4 and free T4 were significantly different among ACR < 30 mg/g, 30-300 mg/g and >300 mg/g (P < 0.001 and =0.007, respectively). Positive correlation between T4 (total T4 and free T4) and albuminuria was evaluated by correlation analysis (P = 0.001 and <0.001, respectively). Albuminuria was an independent influence factor of T4 after adjustment for age, sex, serum creatinine, albumin, hs-CRP, smoking status, systolic blood pressure, diabetes mellitus, medication use for diabetes mellitus, eGFR, LDL-cholesterol, triglycerides, hypertension, and medication use for hypercholesterinemia. In conclusion, T4 was positively correlated with albuminuria, and it was completely not consistent with our anticipation. Further study is needed to elucidate the causation association between albuminuria and T4.
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Albuminuria/epidemiología , Insuficiencia Renal Crónica/sangre , Tiroxina/sangre , Creatinina/sangre , Femenino , Tasa de Filtración Glomerular , Humanos , Masculino , Prevalencia , Insuficiencia Renal Crónica/fisiopatología , Factores de RiesgoRESUMEN
The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions were measured using photographic images, X-ray imaging and grip ability tests. Genetic analysis comprised the genotyping of polymorphic microsatellite markers at known polydactyly-associated loci and the sequencing of the candidate gene. A functional classification system was devised to divide the clinical features into three types, which included mild, moderate or severe deformity. The family was concluded to have syndactyly type II with autosomal dominant inheritance. The microsatellites, D2S2310 and D2S2314, at the 2q31-32 chromosome, which have previously been associated with synpolydactyly type I, were found to be associated with the disorder in the current family. A 27-bp insertion mutation was identified in the affected individuals in the HOXD13 gene at this locus. The insertion added a further nine alanine residues to the polyalanine stretch within the encoded protein. In conclusion, the functional classification method described in the present study may be used to guide surgical approaches to treatment. A family was identified in whom expansion of the polyalanine tract in the HOXD13 gene causes autosomal dominant hereditary synpolydactyly.
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To find a rapid single nucleotide polymorphism (SNP) loci typing method in the mitochondrial DNA (mtDNA) coding regions, we genotyped 16 SNP loci in the mitochondrial DNA coding region in Han, Miao and Tujia populations by the multiplex-amplified product-length polymorphism (mAPLP) technique. This method generates allele-specific fragments that are different in length through PCR amplification using allele-specific forward (or reverse) primers different in size and a common reverse (or forward) primer. Results showed that both of the allelic frequency of 3970T in Han and Tujia populations were 17%, which were significantly different from that of in the Miao population (P0.01). The allelic frequency of 8020A in Han population was 6% , which was different from that of in the Miao and Tujia populations (P0.05) . In all of 300 samples, a total of 45 different haplotypes were identified, 12 of which were found in all the three populations, 10 were shared by two populations and 23 haplotypes existed only in one of the populations. Among these 23 haplotypes, 8, 6 and 12 haplotypes were exclusively observed in the Han, Miao and Tujia populations, respectively.
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ADN Mitocondrial/genética , Polimorfismo de Nucleótido Simple/genética , Pueblo Asiatico/genética , China , Haplotipos/genética , Humanos , Reacción en Cadena de la PolimerasaRESUMEN
Down's syndrome (DS) is the most common chromosomal abnormality in live born infants. The cloning and characterization of genes on HC21 are necessary steps for the understanding of the molecular basis of Down's syndrome. To search for new Down's syndrome related genes, we have used bioinformatics analysis and rapid amplification of cDNA ends to identify an alternatively splicing cDNA of human PKNOX1 in Down's syndrome critical region on the long arm of human chromosome 21. The alternatively splicing full length cDNA of human PKNOX1, named PKNOX1B, is 2 793 bp in length and encodes a 405 amino acid protein. Bioinformatical studies show PKNOX1B gene spans over 58 kb on chromosome 21q22.3 and contains 11 exons and 10 introns. The predicted molecule weight of PKNOX1B is 44.628 kDa, and the deduced iso-electric point is 6.28. Compared with PKNOX1 gene, PKNOX1B is 30 aa shorter at the C terminus than PKNOX1 owing to alternative splice between (10th exon and 11th exon) last two exons. PKNOX1B posses a same homeobox-domain as PKNOX1, so the isoform of PKNOX1 may be involved in the genetic control of development like other members of homeobox-containing gene family. RT-PCR results showed that PKNOX1B is expressed in all examined tissues except in marrow tissue. By Northern blot, PKNOX1 has three transcripts in adult testis, one about 5 kb, second about 2.9 kb, and third about 2 kb. The two larger transcript is expressed in all examined tissues, but the smallest transcript is only expressed actively in adult testis, so that it may play potential roles in spermatogenesis.