Prevalence of heart failure in Asturias (a region in the north of Spain).
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Adult↗
Biomedical subjects
J Vara
Publications and source records attributed to J Vara.
Absence of hypoalbuminemia despite massive proteinuria in focal segmental glomerulosclerosis secondary to hyperfiltration.
We observed that some patients do not develop hypoalbuminemia despite the presence of massive proteinuria. To investigate whether the absence or presence of hypoalbuminemia could be a marker in the distinction between idiopathic focal segmental glomerulosclerosis (FSG) and FSG secondary to hyperfiltration, we reviewed all our patients with biopsy-proven FSG and persistent nephrotic-range proteinuria (>3.5 g/24 h). Patients who met these conditions were then separated into those with hypoalbuminemia (serum albumin level <3 g/dL; group I; n = 19) and those with normoalbuminemia (>3.5 g/24 h; group II; n = 18). All group I patients had nephrotic edema in contrast with the absence of edema in all group II patients. Serum cholesterol and triglyceride levels were significantly greater in group I. All group I patients had been diagnosed with idiopathic FSG. The diagnoses of group II patients were FSG secondary to massive obesity in eight patients (44%), vesicoureteral reflux in five patients (27%), and renal mass reduction in three patients (16%); only two patients (11%) in this group had idiopathic FSG. The case histories of 19 other patients with nephrotic-range proteinuria associated with hyperfiltering disorders (reflux nephropathy, massive obesity, renal mass reduction), but without renal biopsy, were also reviewed; despite massive proteinuria (5.8 +/- 3.1 g/24 h), serum albumin and total protein levels were always within normal values. In conclusion, patients with FSG secondary to hyperfiltration do not develop hypoalbuminemia or the other characteristic complications of nephrotic syndrome, despite the presence of massive proteinuria values.
Adult↗
[Coronary spasm and heart arrest caused by ventricular fibrillation].
We report the cases of three young men, heavy smokers, without previous heart disease and who were resuscitated after cardiac arrest due to ventricular fibrillation attributed to coronary spasm. All of them complained of atypical chest pain and the exercise testing, echocardiogram and coronary angiography were normal. The first case was diagnosed by Holter monitoring and by provocative testing with intracoronary ergonovine; the second by provocative testing with intracoronary acetylcholine and the third by Holter monitoring. The patients were treated with a calcium antagonist and/or nitrates and in the follow up they remained asymptomatic.
Adult↗
Association of thin basement membrane nephropathy with hypercalciuria, hyperuricosuria and nephrolithiasis.
BACKGROUND: Familial persistent microhematuria with normal renal function is the most common presentation of thin basement membrane nephropathy (TBMN). Gross hematuria episodes and loin pain attacks are other manifestations of the disease. On the other hand, it has been shown that hypercalciuria (HC) and hyperuricosuria (HU) can produce both gross or microscopic non-glomerular hematuria, in addition to their role in renal stone formation. METHODS: We studied the prevalence of HC, HU and nephrolithiasis in a group of 27 biopsy-proven TBMN as well as in 19 non-biopsied first-degree relatives with persistent microhematuria and 25 first-degree relatives without microhematuria. A group of 27 patients with IgA nephropathy (IgAN) and persistent microhematuria, and another group of 20 healthy subjects without known renal diseases were selected as control groups. RESULTS: Ten (37%) patients with TBMN and 8 (42%) relatives with microhematuria showed HC and/or HU at presentation; relatives without microhematuria, IgAN patients and normal controls showed a significantly lower prevalence of HC and HU. The prevalence of previous nephrolithiasis among TBMN patients (25%) was significantly higher than in IgAN patients (3%; P < 0.05). Family history of nephrolithiasis was recorded in 14 (51%) of the 27 TBMN families, in contrast with 2 of 27 (7%) with IgAN and 1 of 20 (5%) in normal controls (P < 0.05). The prevalence of nephrolithiasis, gross hematuria bouts and loin pain episodes among TBMN patients and microhematuric relatives showing HC and/or HU at presentation (44%, 44% and 27%, respectively) were significantly higher than those of TBMN patients and microhematuric relatives with normal calcium and uric acid urinary excretions (10%, 7% and 3%, respectively; P < 0.05). At the end of follow-up (8.8+/-4.1 years in TBMN patients and 9.1+/-4.2 years in relatives with microhematuria), all the cases maintained normal renal function. CONCLUSIONS: We found a high prevalence of HC, HU, and nephrolithiasis among TBMN patients and relatives with microhematuria. Our study also shows a significant relationship between the presence of HC and/or HU and the prevalence of nephrolithiasis, gross hematuria bouts and loin pain episodes.
Adolescent↗
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Very few patients with familial hypomagnesemia, hypercalciuria and nephrocalcinosis have been described. Information about clinical course, familial studies or evolution after renal transplantation is very scant. We have studied eight patients with this syndrome who belong to five different families. The mean age at diagnosis was 15 +/- 7 years (5 to 25 years). The primary clinical data were polyuria-polydipsia (8 cases), ocular abnormalities (5), recurrent urinary tract infections (5) and recurrent renal colics with stone passage (2). Bilateral nephrocalcinosis was observed in all cases. Every patient showed hypomagnesemia (1.1 +/- 0.2 mg/dl) with inappropriately high urinary magnesium (Mg) excretions (70 +/- 17 mg/day), Mg clearances (4.4 +/- 1.2 ml/m) and Mg fractional excretions (16.2 +/- 7.1%). Hypercalciuria was present in every case except in those with advanced renal insufficiency. Serum parathormone levels were abnormally high. Serum calcium (Ca), phosphorus and potassium, and urinary excretions of uric acid and oxalate were normal. Neither chronic oral Mg administration nor thiazide diuretics normalized serum Mg levels or urinary Ca excretions, respectively. Follow-up was 6 +/- 4.5 years. Renal function worsened in every case with six patients starting on chronic dialysis after 4.3 +/- 3.8 years. The progression rate of renal insufficiency correlated with the severity of nephrocalcinosis. Five patients have received a kidney graft, and their serum Mg and urinary Ca have always been within normal values after transplantation. Twenty-six members of four of the affected families were studied: none of them showed hypomagnesemia, renal insufficiency or nephrocalcinosis. However, eleven cases (42%) had hypercalciuria and four of them presented with recurrent renal stones. Two family members had medullary sponge kidneys. In conclusion, progression to renal insufficiency is common in this syndrome; oral Mg and thiazide diuretics are ineffective to correct abnormalities. After kidney graft, tubular handling of Mg and Ca was normal. A striking incidence (42%) of hypercalciuria was found in the familial study.
Adolescent↗
Ifosfamide-induced renal tubular defect.
We describe 2 cases of proximal tubular defects induced by the administration of ifosfamide at a dosage of 6 g/m2/course over 2 days in children with a diagnosis of malignant mesenchymal tumors. This adverse effect could be minimized dividing dosage of the drug. However at present it is not clear if divided doses are completely safe.
Antineoplastic Combined Chemotherapy Protocols↗
Identification of the gene encoding an N-acetylpuromycin N-acetylhydrolase in the puromycin biosynthetic gene cluster from Streptomyces alboniger.
The biologically inactive compound N-acetylpuromycin is the last intermediate of the puromycin antibiotic biosynthetic pathway in Streptomyces alboniger. Culture filtrates from either this organism or Streptomyces lividans transformants harboring the puromycin biosynthetic gene cluster cloned in low-copy-number cosmids contained an enzymic activity which hydrolyzes N-acetylpuromycin to produce the active antibiotic. A gene encoding the deacetylase enzyme was located at one end of this cluster, subcloned in a 2.5-kb DNA fragment, and expressed from a high-copy-number plasmid in S. lividans.
Amidohydrolases↗
Molecular analysis of the pac gene encoding a puromycin N-acetyl transferase from Streptomyces alboniger.
Nucleotide sequence of a 906-bp fragment of Streptomyces alboniger DNA containing the gene (pac), which encodes a puromycin N-acetyltransferase (PAC), has been determined. The pac gene contains a 600-nt open reading frame, starting with an ATG codon, which encodes a polypeptide of Mr 21,531; this is consistent with the 23 +/- 1.5 kDa size of the PAC enzyme. High-resolution S1 mapping indicates that transcription starts at or next to a C residue 35 bp upstream from the putative ATG start codon. A 263-bp DNA fragment from the 5' region of the pac gene has promoter activity in the promoter-probe plasmid pIJ486. Its -35 and -10 regions show significant structural homology to the corresponding regions of the hyg gene promoter, but they are different from the promoter sequences of other Streptomyces and Escherichia coli genes.
Acetyltransferases↗
Cloning of genes governing the deoxysugar portion of the erythromycin biosynthesis pathway in Saccharopolyspora erythraea (Streptomyces erythreus).
Genes that govern the formation of deoxysugars or their attachment to erythronolide B and 3 alpha-mycarosyl erythronolide B, intermediates of the biosynthesis of the 14-membered macrolide antibiotic erythromycin, were cloned from Saccharopolyspora erythraea (formerly Streptomyces erythreus). Segments of DNA that complement the eryB25, eryB26, eryB46, eryC1-60, and eryD24 mutations blocking the formation of erythronolide B or 3 alpha-mycarosyl erythronolide B, when cloned in Escherichia coli-Streptomyces shuttle cosmids or plasmid vectors that can transform S. erythraea, were located in a ca. 18-kilobase-pair region upstream of the erythromycin resistance (ermE) gene. The eryC1 gene lies just to the 5' side of ermE, and one (or possibly two) eryB gene is approximately 12 kilobase pairs farther upstream. Another eryB gene may be in the same region, while an additional eryB mutation appears to be located elsewhere. The eryD gene lies between the eryB and eryC1 genes and may regulate their function on the basis of the phenotype of an EryD- mutant.
Cloning, Molecular↗
Biosynthesis of puromycin by Streptomyces alboniger: characterization of puromycin N-acetyltransferase.
Puromycin N-acetyltransferase from Streptomyces alboniger inactivates puromycin by acetylating the amino position of its tyrosinyl moiety. This enzyme has been partially purified by column chromatography through DEAE-cellulose and Affigel Blue and characterized. It has an Mr of 23 000, as determined by gel filtration. In addition to puromycin, the enzyme N-acetylates O-demethylpuromycin, a toxic precursor of the antibiotic, and chryscandin, a puromycin analogue antibiotic. The Km values for puromycin and O-demethylpuromycin are 1.7 and 4.6 microM, respectively. The O-demethylpuromycin O-methyltransferase from S. alboniger, which apparently catalyzes the last step in the biosynthesis of puromycin [Rao, M. M., Rebello, P. F., & Pogell, B. M. (1969) J. Biol. Chem. 244, 112-118], also O-methylates N-acetyl-O-demethylpuromycin. The Km values of the methylating enzyme for O-demethylpuromycin and N-acetyl-O-demethylpuromycin are 260 and 2.3 microM, respectively. These findings suggest that O-demethylpuromycin, if present in S. alboniger, would be N-acetylated and then O-methylated to be converted into N-acetylpuromycin. It might even be possible that N-acetylation of the puromycin backbone takes place at an earlier precursor.
Acetylation↗
Regulation of gene amplification and expression in cells that constitutively express a temperature sensitive SV40 T-antigen.
Simian cells have been transformed with SV40 origin-defective recombinant plasmids containing the tsA209 T-antigen gene. These plasmids contain deletions of either 5 or 52 nucleotides that include the BglI site at the SV40 ori, are defective for replication in COS-1 cells but retain a functional SV40 early promoter. Two cell lines transformed with these plasmids, U4 and S7, and their respective clonal derivatives E5 and F11, contain the tsA209 T-antigen gene integrated into the cell DNA and express T-antigen as detected by immunoprecipitation and immunofluorescence. These cells behave as ts-COS cells, since they complement in a temperature dependent manner the replication of an SV40 derived recombinant plasmid. When transfected with recombinant plasmids containing the chloramphenicol acetyl transferase (CAT) gene cloned into SV40 replicons, ts-COS cells were able to regulate the induction of the CAT activity by temperature. The ratios of CAT activity observed at permissive versus restrictive temperature were in the range of 20-400. Thus, these ts-COS cells are useful systems for the regulated expression of cloned genes in simian cells.
Acetyltransferases↗
Cloning and expression of a puromycin N-acetyl transferase gene from Streptomyces alboniger in Streptomyces lividans and Escherichia coli.
A gene (pac) encoding a puromycin N-acetyl transferase (PAC) of Streptomyces alboniger ATCC12461 was cloned in the Streptomyces plasmid pIJ702 and expressed in S. lividans 1326. Several clones resistant to puromycin were isolated and shown to carry pIJ702 with different inserts of S. alboniger DNA. They were classified as of low and high activity according to the levels of enzymatic activity expressed by them. The different levels of expression were related to the two possible orientations of the S. alboniger DNA inserts in the pIJ702 vector. Six of the recombinant plasmids contain a common 1.6-kb DNA sequence which, by subcloning experiments, was shown to carry a pac gene encoding PAC activity. The pac gene was subcloned next to the lac promoter of Escherichia coli plasmid pUC19. Only one of the two possible orientations of insertion expressed PAC activity, suggesting that it was dependent on the lac promoter. Accordingly, isopropylthio-beta-D-galactoside (IPTG) was able to stimulate the expression of the enzyme activity. These results allowed the direction of transcription of the pac gene to be determined.
Acetyltransferases↗
The mechanism of resistance to puromycin and to the puromycin-precursor O-demethyl-puromycin in Streptomyces alboniger.
Ribosomes from Streptomyces alboniger are sensitive in vitro to puromycin and, to a lesser extent, to the puromycin-precursor O-demethyl-puromycin. The puromycin-inactivating enzyme (puromycin N-acetyltransferase) from S. alboniger also N-acetylates O-demethyl-puromycin. This finding indicates that in certain antibiotic-producing organisms the antibiotic-inactivating enzymes may play a role in self-defence against toxic precursor molecules.
Acetylation↗
Acetylation of puromycin by Streptomyces alboniger the producing organism.
Streptomyces alboniger produces the antibiotic puromycin and expresses an enzymic activity which acetylates the drug using acetyl CoA. The N-acetyl-puromycin formed is biologically inactive against protein synthesis in Bacillus subtilis (as assayed in vivo).
Acetylation↗