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Biomedical subjects

E Arroyo

Publications and source records attributed to E Arroyo.

18 recordsLinked to original sources

Test strip for determination of nitrite in water.

A disposable test strip is proposed for the determination of nitrite in waters. The strip is an inert rectangular strip of polyester with a 6 mm o.d. circular, transparent and colorless film attached to its surface. This film contains the chemicals required for reaction and fixation of the dye formed, sulfanilamide, N-(1-naphthyl)ethylenediamine on Nafion. When the test strip is placed in an acidified (pH 2.0) sample solution containing nitrite a red-violet color develops; the absorbance of this is measured at 536 nm. The linear range of the method depends on the time of equilibration of the test strip with the sample solution. When the equilibration time was 45 min, the linear range was 8.9-500 microg L(-1) whereas for an equilibration time of 60 min it was 4.7-200 microg L(-1). The detection limit was 1.4 microg L(-1) for an equilibration time of 60 min. The precision of the method, expressed as RSD, was 8.8 % at 100.0 microg L(-1). The method was applied, and validated chemometrically, for the determination of nitrite in different types of water (spring, mineral, tap, well, and sea).

Color↗

Single-use optical sensor for the determination of iron in water and white wines.

A new method, based on the use of a disposable sensor, for the determination of Fe(II) in waters and wines is proposed. The sensor is formed by an inert rectangular strip of polyester (Mylar) and a circular film (6 mm in diameter) adhered on its surface. This film, which contains the required reagents for the fixation of the analyte by means of a complexation reaction, forms the sensing zone of the sensor. When the sensor is introduced in an acidified (pH 2.5) sample solution containing between 4.0 and 300.0 micrograms/L of Fe(II), a violet-red colour develops in the initially colourless sensing zone. The linear range of the method depends on the equilibration time of the sensor with the sample solution. Thus, when the equilibration time was 5 min, the linear range was 41.0-300.0 micrograms/L, while for 60 min the range was 4.0-50.0 micrograms/L. Detection and quantification limits were 12.0 and 41.0 micrograms/L, respectively, for an equilibration time of 5 min. The precision of the method, expressed as relative standard deviation of ten samples of 100.0 micrograms/L of Fe(II), was 4.9%. Interferences produced by other species usually present in waters or wines have been studied. Cu(II) and Co(II) interfered seriously at concentration levels higher than 100.0 and 150.0 micrograms/L, respectively. The method was applied to the determination of Fe(II) in different types of waters and wines, using atomic absorption spectrometry as a reference method.

Colorimetry↗

C282Y and H63D mutation frequencies in a population from central Spain.

OBJECTIVES: To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula. METHODS: DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzymes were Snab I and Bcl I for C282Y and H63D, respectively. Results were visualized with Ethidium Bromide staining after gel electrophoresis. RESULTS AND DISCUSSION: C282Y frequency was 0.02 and that of H63D was 0.16. Result for C282Y mutation falls within the range of variation of the Mediterranean populations. H63D frequency agrees with those reported for other European populations. In both cases frequencies obtained are the lowest of compared Spanish data. CONCLUSIONS: This study is useful to compare expected versus presented C282Y and H63D frequencies in Spanish populations and to contribute to the knowledge of Spanish variability, rarely analyzed until now for HFE gene mutations.

Europe↗

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.

Africa, Northern↗

[Lipodystrophy and hyperglycemia produced by protease inhibitors].

BACKGROUND: HIV-1 protease inhibitors (PI) have been recently associated with a syndrome of anomalous body fat distribution or lipodystrophy (LD), which sometimes is associated to hyperglycemia. Many aspects of this syndrome remain obscure. The objective of the study is to describe the prevalence, clinical patterns, derangement of glucose metabolism associated and follow-up. METHODS: Patients taking at least one PI during January 1998 were asked a questionnaire about any body change, and a physical exam looking for fat changes was performed. In patients found to have LD, basal plasma glucose, cholesterol, triglycerides and cortisol were studied, and an oral glucose tolerance test (OGTT) was performed. In those cases with breast enlargement, prolactin and estradiol were measured. RESULTS: Among 272 patients, five cases (1.8%) of LD were detected. The syndrome appeared associated with all the IP available at the time of the study, a medium of 4.2 months after the introduction of the drug. The most common pattern was fat accumulation in abdomen and breast, and fat loss in arms, legs and face. Basal glycemia was normal in all 5 patients, but OGTT showed carbohydrate intolerance in two (both of them had family antecedents of type 2 diabetes mellitus). Only one patient need treatment withdrawal because of progressive deforming changes. CONCLUSIONS: The LD can appear in patients taking any IP. Body changes are usually self limited and in many patients PI don't need to be stopped.

Adult↗

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.

We have examined the worldwide distribution of a Y-chromosomal base-substitution polymorphism, the T/C transition at SRY-2627, where the T allele defines haplogroup 22; sequencing of primate homologues shows that the ancestral state cannot be determined unambiguously but is probably the C allele. Of 1,191 human Y chromosomes analyzed, 33 belong to haplogroup 22. Twenty-nine come from Iberia, and the highest frequencies are in Basques (11%; n=117) and Catalans (22%; n=32). Microsatellite and minisatellite (MSY1) diversity analysis shows that non-Iberian haplogroup-22 chromosomes are not significantly different from Iberian ones. The simplest interpretation of these data is that haplogroup 22 arose in Iberia and that non-Iberian cases reflect Iberian emigrants. Several different methods were used to date the origin of the polymorphism: microsatellite data gave ages of 1,650, 2,700, 3,100, or 3,450 years, and MSY1 gave ages of 1,000, 2,300, or 2,650 years, although 95% confidence intervals on all of these figures are wide. The age of the split between Basque and Catalan haplogroup-22 chromosomes was calculated as only 20% of the age of the lineage as a whole. This study thus provides evidence for direct or indirect gene flow over the substantial linguistic barrier between the Indo-European and non-Indo-European-speaking populations of the Catalans and the Basques, during the past few thousand years.

Base Sequence↗

Cystic degeneration of a uterine leiomyoma masquerading as a postmenopausal ovarian cyst. A case report.

BACKGROUND: Leiomyomas are the most common of uterine neoplasms and a major cause of visits to gynecologists. While most often straightforward in their presentation and management, they can undergo various kinds of asymptomatic degeneration that drastically alters their appearance and muddies the process of diagnosis. CASE: A 51-year-old woman was referred with a large adnexal mass that appeared on ultrasound to be a simple ovarian cyst. Because of its 10-cm diameter in a postmenopausal patient who could not guarantee close follow-up, surgery was performed. Normal ovaries were encountered, along with a large uterine cyst, identified as a degenerative leiomyoma. CONCLUSION: Our case appears to be the largest simple cystic degenerative uterine leiomyoma reported and illustrates the possible diagnostic confusions. Subtle clues may differentiate uterine from adnexal cystic structures sonographically, but this case illustrates that while extremely valuable, sonographic evaluation in gynecology is not infallible.

Diagnosis, Differential↗

Serum ferritin as a component of the insulin resistance syndrome.

OBJECTIVE: In epidemiological studies, serum ferritin was the second-strongest determinant of blood glucose (after BMI) in regression models and the third-strongest determinant of serum insulin (after BMI and age). Its concentration also correlated positively with plasma triglycerides and apolipoprotein B concentrations, and negatively with HDL2 cholesterol. We hypothesized that serum ferritin could be a marker of insulin resistance. RESEARCH DESIGN AND METHODS: Oral glucose tolerance and insulin sensitivity (SI, minimal model method) were prospectively evaluated in 36 healthy subjects. The relationship between serum ferritin and metabolic control (as measured by HbA1c levels) was also studied in 76 consecutive NIDDM patients. RESULTS: In healthy subjects, log-transformed serum ferritin (LOGFER) correlated with basal serum glucose (r = 0.44, P = 0.007), but not with BMI, age, systolic or diastolic blood pressure, total cholesterol, VLDL cholesterol, HDL cholesterol, total triglycerides, VLDL triglycerides, serum insulin, or HbA1c (all P = NS). Identical results were obtained when the two lowest quartiles of serum ferritin were evaluated separately. However, in the two highest quartiles, LOGFER correlated with BMI (0.50, P = 0.02), diastolic blood pressure (r = 0.8, P < 0.0001), serum LDL cholesterol (r = 0.57, P = 0.01), VLDL cholesterol (r = 0.48, P = 0.03), total cholesterol and HDL2 and HDL3 subtractions of HDL cholesterol (r = -0.68, -0.76, -0.55, P = 0.001. < 0.0001, and 0.01, respectively), total triglycerides (r = 0.60, P = 0.006), HDL2/HDL3 quotient (P = -0.71, P = 0.001), VLDL triglycerides (r = 0.65, P = 0.004), and serum uric acid (r = 0.51, P = 0.03), but not with systolic blood pressure (r = 0.38, P = 0.15). After adjusting for BMI, only the correlations between LOGFER and diastolic blood pressure (r = 0.7, P = 0.002) and HDL2/HDL3 quotient (r = -0.63, P = 0.01) remained significant. Strong correlations between LOGFER and glucose area under the curve during oral glucose tolerance test (Pearson's r = 0.73, P = 0.001) and SI (r = -0.68, P = 0.001), which remained significant after controlling for BMI, were observed. LOGFER (beta = -0.44, P = 0.01) and BMI (beta = -0.52, P = 0.004) constituted independent predictors of insulin sensitivity in a multivariate analysis (R2 = 0.68). In 76 consecutive NIDDM outpatients, serum glucose (P < 0.00001) and LOGFER (P = 0.03) independently predicted the value of HbA1c (R2 = 0.40) in a multiple linear regression analysis. CONCLUSIONS: The correlations among serum ferritin and diastolic blood pressure, HDL quotient, glucose area under the curve, and SI suggest that serum ferritin could be a marker of the insulin resistance syndrome. Serum ferritin may also be an independent determinant of poor metabolic control in the diabetic patient.

Adult↗

Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP).

Demyelinating peripheral neuropathies are clinically divided into inherited and acquired types. Inherited demyelinating neuropathies are caused by mutations in genes expressed by myelinating Schwann cells, whereas acquired ones, including chronic inflammatory demyelinating polyneuropathy (CIDP), are probably caused by autoimmune mechanisms. We find that heterozygous P0 knockout (P0+/-) mice develop a neuropathy that resembles CIDP. By one year of age, P0+/- mice develop severe, asymmetric slowing of motor nerves, with temporal dispersion or conduction block, which are features of acquired demyelinating neuropathies including CIDP. Moreover, morphological analysis of affected nerves reveals severe and selective demyelination of motor fibers, focal regions of demyelination, and inflammatory cells. These data suggest that immune-mediated mechanisms may contribute to the pathogenesis of the neuropathy in P0+/- mice.

Action Potentials↗

Microheterogeneity and AMP-FLP analysis of the 3' flanking interleukin-6 VNTR polymorphism in central Spain.

The 3' flanking region of the interleukin-6 gene is polymorphic due to the existence of a hyper-variable region consisting of a number of A + T rich variable repeated DNA sequences (VNTR). We used specific primers to amplify this particular VNTR system by PCR in 222 unrelated normal Spaniards from Madrid, Spain. A model of inheritance comprising of five different allele classes was proposed and frequencies evaluated as follows: B4, 0.635; B3.1, 0.029; B3, 0.270; B2, 0.038; B1, 0.027. Also, examples of inheritance of mendelian microheterogeneity are shown. Heterozigosity index was calculated (H = 0.5) and no departure from Hardy-Weinberg equilibrium was observed (chi 2 = 0.091, d. f. 1, p > 0.75).

Genetic Heterogeneity↗

Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration.

The terminal differentiation of myelinating glia involves complex interactions that culminate in the formation of myelin. The POU domain transcription factor Tst-1/Oct-6/SCIP is expressed transiently during myelination, and we report here that it has a critical role in this developmental process. Deletion of the Tst-1/Oct-6/SCIP gene produces a severe defect in peripheral myelination by arresting Schwann cell maturation before axonal wrapping. Unexpectedly, the activation of major myelin-specific genes appears to be unaffected by the Tst-1/Oct-6/SCIP mutation, demonstrating that multiple, independently regulated events are required for terminal differentiation of Schwann cells. In addition, aberrant differentiation and migration of specific neurons in Tst-1/Oct-6/SCIP mutant homozygotes is associated with a fatal breathing defect, providing a model for investigating the regulation of pulmonary homeostasis.

Animals↗

The transcription factors SCIP and Krox-20 mark distinct stages and cell fates in Schwann cell differentiation.

We have studied the transcription factors SCIP and Krox-20 in differentiating Schwann cells-during normal development, in experimentally induced degenerating and regenerating peripheral nerves, and in cell culture-and have compared the expression of these regulators to a battery of genes that mark distinct stages in Schwann cell differentiation. In the myelinating Schwann cell lineage, we find that SCIP is initially induced by contact with axons and first appears near the last round of cell division in immature cells. This expression is transient--it is maximal in "promyelinating" cells and is then extinguished as Schwann cells overtly differentiate and myelinate axons. In contrast, Krox-20 appears in cells 24-36 h after they become SCIP+ and continues to be expressed in mature myelinating cells. These differences in regulation are seen in normal development, in regenerating nerves following nerve crush, and in cultured Schwann cells stimulated to adopt a myelination phenotype by elevation of intracellular cyclic AMP. Importantly, transient SCIP expression is also observed in the nonmyelinating Schwann cell lineage, but Krox-20 expression is not. Together with the myelination phenotypes exhibited by SCIP and Krox-20 mutant mice, these results suggest that SCIP preferentially acts during the predifferentiated phases of Schwann cell development, while in contrast, Krox-20 is associated with the later commitment to myelination and may therefore function as a direct transactivator of myelination genes.

Animals↗

Polymorphism analysis of the VNTR locus D17S5 in central Spain.

The fragment length polymorphism YNZ22 (D17S5) was analysed for a sample of 207 unrelated individuals living in Madrid (Spanish Caucasians) using PCR-methodology and high resolution separation. Hardy-Weinberg expectations (HWE) were calculated after pooling alleles into four groups. No deviations from HWE were detectable using the conventional chi 2-test. The power of discrimination was estimated as 0.96 and the mean paternity exclusion chance as 0.7587. A comparison of the allele frequency distribution with those of other Caucasian groups revealed no major differences.

Alleles↗

Prenatal exclusion of paternity by PCR-FLP analysis of VNTR.

A prenatal paternity test was requested by a 30-year-old woman. Variable number of tandem repeat (VNTR) systems were used for DNA analysis by means of amplification and electrophoresis followed by ethidium bromide staining or Southern blotting and oligonucleotide hybridization. Exclusion of paternity could be established on the basis of the great polymorphism and heterozygosity indexes of these genetic systems. This rapid method presents several advantages in contrast with other recombinant DNA techniques such as HLA class II oligotyping or RFLP.

Adult↗

An improved method for subtyping Pi in old bloodstains.

Immunofixation procedures were used for detecting alpha-1 antitrypsin protease inhibitor (Pi) phenotypes in bloodstains. Neuraminidase elution of bloodstains, together with isoelectric focusing, immunofixation, and silver staining techniques, makes possible Pi subtyping in old bloodstains. No extra bands appear when the storage time is no longer than three months.

Alleles↗