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Biomedical subjects

C Navarro

Publications and source records attributed to C Navarro.

At least 55 records · Page 3Linked to original sources
PubMed2001

Extremely high prevalence of overweight and obesity in Murcia, a Mediterranean region in south-east Spain.

OBJECTIVE: To estimate the prevalence of obesity in the Murcia Region according to age and sex, and to analyse how obesity is related to demographic and socio-economic determinants and to other cardiovascular risk factors of interest to the community. DESIGN: Survey on a representative population sample using multi-stage random sampling with definition of the sample quotas. SUBJECTS: A total of 3091 persons aged 18-65 y residing in the Murcia Region. MEASUREMENTS: : The following data were collected: socio-economic data; tobacco smoking; recent physical activity; blood pressure; weight; height; and blood analysis to determine plasma lipids. Obesity was defined by body mass index (BMI)> or =30. Intense or vigorous physical activity (VPA> or =6 equivalents to baseline metabolic rate or METs) was measured in kilocalories per day and reduced to hours per week. RESULTS: In all, 20.5% of the adult population of the Murcia Region is obese, and 40.9% is overweight. In the logistic regression analysis, obesity in men is associated with age and level of education. In women it is associated with age, level of education, living in a non-urban area and being a housewife. When adjusted for socio-economic variables and for other cardiovascular risk factors the effect of age and level of education disappears in men and it is directly associated with hypertension and hypertriglyceridaemia and inversely related to more than 2 h VPA per week. Obesity in women is associated positively with age, hypertension, hypertriglyceridaemia and little VPA, and inversely with level of education. CONCLUSIONS: In the Murcia Region 61.4% of the adult population presents with some form of excess weight. The prevalence of obesity (BMI> or =30) is greater in women (23.7%; CI 95% 19.7-27.7) than in men (17.3%; CI 95% 15.3-19.3). The widespread nature of this factor makes it a mass problem that requires generalised interventions to prevent it.

Adolescent↗
PubMed2001

Analysis of PEAM4, the pea AP1 functional homologue, supports a model for AP1-like genes controlling both floral meristem and floral organ identity in different plant species.

APETALA1 (AP1) and its homologue SQUAMOSA (SQUA) are key regulatory genes specifying floral meristem identity in the model plants Arabidopsis and Antirrhinum. Despite many similarities in their sequence, expression and functions, only AP1 appears to have the additional role of specifying sepal and petal identity. No true AP1/SQUA-functional homologues from any other plant species have been functionally studied in detail, therefore the question of how the different functions of AP1-like genes are conserved between species has not been addressed. We have isolated and characterized PEAM4, the AP1/SQUA-functional homologue from pea, a plant with a different floral morphology and inflorescence architecture to that of Arabidopsis or Antirrhinum. PEAM4 encodes for a polypeptide 76% identical to AP1, but lacks the C-terminal prenylation motif, common to AP1 and SQUA, that has been suggested to control the activity of AP1. Nevertheless, constitutive expression of PEAM4 caused early flowering in tobacco and Arabidopsis. In Arabidopsis, PEAM4 also caused inflorescence-to-flower transformations similar to constitutive AP1 expression, and was able to rescue the floral organ defects of the strong ap1-1 mutant. Our results suggest that the control of both floral meristem and floral organ identity by AP1 is not restricted to Arabidopsis, but is extended to species with diverse floral morphologies, such as pea.

Amino Acid Sequence↗
PubMed2001

Major histocompatibility complex and tumor necrosis factor-alpha polymorphisms in pigeon breeder's disease.

Pigeon breeders disease (PBD) is caused by the exposure of a susceptible host to avian antigens. However, genetic factors determining individual predisposition are unknown. In this work, polymorphisms of the major histocompatibility complex (MHC) class II alleles and tumor necrosis factor alpha (TNF-alpha) promoter were evaluated in 44 patients with PBD, 99 healthy unrelated controls (HC), and 50 exposed but asymptomatic subjects (EAS). MHC typing was performed by PCR-specific sequence oligonucleotide analysis, and TNF-alpha polymorphism at -238 and -308 positions by amplification refractory mutation system-PCR. PBD patients showed a significant increase of the alleles HLA-DRB1*1305 (p < 0.001, OR = 15.4, 95% CI = 3.18-102.6 [HC], and OR = 17.05, 95% CI = 2.25-357.8 [EAS]) and HLA-DQB1*0501 (p < 0.05, OR = 2.93, 95% CI = 1.21-7.15 [HC], and OR = 2.96, 95% CI = 1.0-9.14 [EAS]). A decrease of HLA-DRB1*0802 was also noticed in patients when compared with both control groups (p < 0.05). Haplotype analysis revealed an increase of DRB1*1305-DQB1*0301 and a decrease of DRB1*0802-DQB1*0402. PBD patients had an increased frequency of TNF-2(-)(308) compared with both control groups (p < 0.05). Patients exhibiting the TNF-2(-)(308) allele were younger (33.9 +/- 14.6 versus 44.2 +/- 10.4 yr; p < 0.05), and displayed more lymphocytes in their bronchoalveolar lavages (88.0 +/- 12.1 versus 68.9 +/- 17.2; p < 0.05). These results suggest that genetic factors located within the MHC region contribute to the development of PBD.

Adult↗
PubMed2001

Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.

We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy. Arylsulfatase A (ARSA) activities were markedly reduced, and electrophysiology showed a severe demyelinating neuropathy with features of chronic acquired demyelinating polyneuropathy. Molecular genetic studies of the family revealed that the proband and her affected daughter are compound heterozygotes for the common IVS2+ 1G-->A mutation and a newly identified missense mutation, Thr408Ile. This case indicates that adult metachromatic leukodystrophy should be considered in adult patients with demyelinating peripheral neuropathy of unknown etiology.

Alleles↗
PubMed2001

[Usefulness of the statistical bulletin of deaths to identify extrahospital deaths in the context of a myocardial infarction population registry].

INTRODUCTION AND AIMS: This paper aimed to study the usefulness of the Statistical Bulletin of Deaths (SBD) for identifying extrahospital deaths due to acute coronary ischaemia, and to determine the most efficient strategy in the selection of death causes that appear in the SBD, which are the most efficient for the identification. METHODS: Those extrahospital deaths, which, among the causes of death, recorded a diagnostic code indicating that they might have been caused by coronary ischaemia, were included. To study the usefulness of the death certificate we calculated the sensitivity and the positive predictive value of cardiac ischaemia. To determine the most efficient strategy for selecting causes of death we compared two selection strategies: the first, using only the basic cause of death; and the second using all the causes appearing in the SBD. RESULTS: Of the 395 SBD selected, 161 were classed as acute heart attacks. In those SBD in which cardiac ischaemic disease was given as the basic cause of death, we obtained a sensitivity of 82.6% (CI 95%: 75.9-88.1) and a positive predictive value of 72.7% (CI 95%: 65.6-79). The most efficient strategy in SBD selection proved to be the investigation of death certificates in which cardiac ischaemia appeared as one of all the causes of death, and death certificates in which the basic cause of death was coded as diabetes mellitus, essential arterial hypertension, hypertensive heart disease, cardiac dysrhythmia, and cardiac insufficiency. CONCLUSIONS: The information provided by death certificates for extrahospital deaths due to coronary ischaemia is reliable. A sensitive and efficient SBD selection strategy is proposed for the detection of cases.

Adult↗
PubMed2001

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

We report on 54 Spanish patients with McArdle's disease from 40 unrelated families. Molecular analysis revealed that the most common R49X mutation was present in 70% of patients and 55% of alleles. The G204S mutation was less frequent and found in 14.8% of patients and 9% of mutant alleles. The W797R mutation was observed in 16.5% of patients, accounting for 13.7% of mutant alleles. Moreover, 78% of mutant alleles among Spanish patients can be identified by using polymerase chain reaction-restriction fragment length polymorphism analysis for the R49X, G204S, and W797R mutations, which makes noninvasive diagnosis possible through molecular genetic analysis of blood DNA. Six novel mutations were found. Three were missense mutations, E348K, R601W, and A703V; two nonsense mutations, E124X and Q754X; and one single base pair deletion, 533 delA. No clear genotype-phenotype correlation emerges from our study. Most of the mutations of uncharged and solvent inaccessible residues and the truncations must disrupt the basic structure of the protein. The mutations of charged residues would be expected to interfere with internal hydrogen bonding networks, introducing severe incompatible partnering that is caused by poor packing or electrostatic repulsions.

Adolescent↗
PubMed2000

Development. PARallels in axis formation.

There is an intricate network of molecules called cell fate determinants that instruct the cells of the embryo to take on either an anterior or posterior fate. In a lively Perspective, Lehmann and her colleagues discuss new findings in the fruit fly that identify a key protein, PAR-1, which ensures that the cell fate determinants are themselves located in the correct region of the oocyte. In this way, the anterior-posterior axis is set up in the fruit fly egg before fertilization.

Actin Cytoskeleton↗
PubMed2000

[Factors associated with the accumulation of abdominal fat estimated with anthropometric indexes].

BACKGROUND: To evaluate lifestyle and dietary intake factors influencing the accumulation of abdominal fat in a Mediterranean population. SUBJECTS AND METHOD: A cross-sectional study was carried-out in Spain (Asturias, Granada, Murcia, Navarra and Guipuzkoa) among 23,228 women and 14,332 men aged 29-69 years, participants of a large European prospective cohort (EPIC). Information on usual food intake and other non-dietary factors were collected by interviews. Height, weight, waist circumference and hip circumference were taken by previously trained interviewers. RESULTS: In a multiple-linear regression analysis sports activities and educational level were negatively associated with abdominal obesity, while body mass index, age, tobacco and alcohol consumption, saturated fat intake and increased prevalence of hypertension, diabetes and myocardial infarction were positively associated. All dietary and non-dietary variables accounted for 22 and 27% of variance in the waist/hip ratio and 74 and 66% of variance in the waist circumference, in women and men respectively. CONCLUSIONS: Body mass index and age are the most important factors influencing the accumulation of abdominal fat. Dietary factors and other lifestyle factors seem to play a minor role in increasing abdominal obesity.

Abdomen↗
PubMed2000

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

OBJECTIVE: To characterize the clinical phenotype of LGMD2C in gypsies. BACKGROUND: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. METHODS: We performed clinical, laboratory, and muscle imaging studies of 40 patients. RESULTS: Mean age at onset was 5.3 years. One half of the patients had loss of ambulation by the age of 12; 13% still could walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar hyperlordosis were common. Girdle, trunk, and proximal limb flexor muscles had earlier and more severe involvement. Cardiomyopathy was not observed. Five patients in the third decade of life required mechanical ventilation. Scoliosis was common in the nonambulatory stage. CONCLUSIONS: LGMD2C in gypsy patients with C283Y mutation presents a rather homogeneous phenotype, characterized by an initial Duchenne-like progressive course followed by a more prolonged survival rate possibly due to the absence of early respiratory impairment and cardiac failure.

Adolescent↗
PubMed2000

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

OBJECTIVE: To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. DESIGN: The coding sequence of the entire myophosphorylase gene was sequenced in DNA extracted from muscle and blood. Restriction fragment length polymorphism analysis of polymerase chain reaction fragments was used to confirm and simplify detection of a novel mutation. SETTING: A collaborative study between 2 university laboratories in Spain and the United States. RESULTS: Five of the 10 patients harbored a novel missense mutation in exon 20, converting a tryptophan to an arginine (W797R). Three patients were homozygous for the "common" R49X mutation, and the remaining 2 patients were compound heterozygotes for R49X and a previously described missense mutation, G204S. CONCLUSIONS: The W797R missense mutation is the third novel mutation to be identified among Spanish patients. Its relative frequency suggests that it should be added to the R49X mutation in the molecular screening of McArdle disease in Spain.

Adult↗
PubMed2000

Molecular analysis of Spanish patients with AMP deaminase deficiency.

We found six patients with AMPD deficiency in muscle who were homozygous for the most common mutation, Q12X in the AMPD gene (AMPD1), associated with this disease. Three patients had AMPD deficiency alone, showing a mild clinical phenotype. Two patients showed a defect of PPL in muscle, and were homozygous for the most common mutation associated with McArdle's disease, R49X in the muscle PPL gene (PYGM). In one of these patients, the clinical phenotype was more severe than usually seen in patients with McArdle's disease. The remaining patient harbored the mtDNA A3243G mutation, showing one of the usual clinical patterns associated with this mutation. We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; that it is frequent in the Spanish population, and therefore frequently associated with other metabolic diseases; and that the effect of the association of AMPD and PPL deficiencies seems to be neutral.

AMP Deaminase↗
PubMed2000

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients.

Thorough non-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12. Results were compared with those obtained in an age-matched group of normal boys and girls. The studies included electrocardiographic and echocardiographic evaluations using pulsed wave Doppler tissue imaging to assess regional diastolic function and myocardial velocities at various levels. This study confirms the significant electrocardiographic abnormalities described in previous studies. Furthermore, measurement of myocardial velocity at different levels demonstrated an abnormal relaxation pattern in the tricuspid annulus in four of the oldest patients, which strongly suggests intrinsic myocardial involvement of the right ventricle. To our knowledge, these specific studies have not been previously performed in a clinically and genetically homogeneous group of gamma-sarcoglycanopathy patients and suggest primary myocardial involvement probably due to gamma-sarcoglycan deficiency in cardiac muscle fibres. Our results could be of interest in the follow-up of these patients and the prevention and treatment of late cardiological complications.

Adolescent↗
PubMed2000

Types of fat intake and body mass index in a Mediterranean country.

BACKGROUND: Although the fatty acid fractions provide similar metabolizable energy, the type of dietary fat consumed could be relevant to the development of obesity. OBJECTIVE: To investigate the relationship between body mass index (BMI), obesity and the consumption of different types of fat and olive oil in a Mediterranean country with high prevalence of obesity, and high intake of monounsaturated fatty acids (MUFA) and olive oil. SUBJECTS: The study was carried out in Spain among 23 289 women and 14 374 men, aged 29-69 years, who were participants of a large European prospective cohort. METHODS: : Information on usual food intake was collected by interviewers by means of a dietary history questionnaire. The association between obesity (BMI >/= 30 kg m2), dietary fat, other dietary patterns and other non-dietary factors were tested using multilinear regression analysis. The ratio of reported energy intake to energy requirement was used as an estimation of dietary underreporting. RESULTS: The association between fatty acid fractions intake (saturated fatty acids (SFA) in women, and MUFA and polyunsaturated fatty acids (PUFA) in both sexes) and BMI was very weak, accounting for less than 1% of variance. All dietary and non-dietary variables accounted for 21% of variance in the measurement of BMI in women and only 6.7% of variance in men. Estimated underreporting of energy intake was 17.5% in obese women and 5.5% in obese men. CONCLUSIONS: The association between consumption of specific types of dietary fat, olive oil and obesity in Spain is not very important. However, because of the cross-sectional design and some level of underreporting of energy intake observed in overweight subjects and overreporting in underweight subjects, systematic bias cannot be completely discarded.

Adipose Tissue↗
PubMed2000

Is there a different dietetic pattern depending on self-knowledge of high blood pressure?

This cross-sectional study describes the dietary pattern seen at recruitment in a large Spanish cohort comprising 41,451 people (aged 30-69 years) according to high blood-pressure status. We provide information on adjusted mean daily intake of foods and nutrients, by means of a dietary history, from those people self-reported as having high blood pressure as well as from those self-reported as normotensive but having, after actual blood-pressure measurement, systolic or diastolic blood pressures of > or = 160/95 mmHg. Although with small differences in mean intake people who self-reported high blood pressure have a higher consumption of potatoes, vegetables, vitamin C and E; furthermore, men reported an increased intake of fruit, meat, fish, proteins, dietary fibre, beta-carotene and alcohol, and women tended to consume less alcohol, lipids and cholesterol but more proteins, carbohydrates and dietary fibre. Almost no differences are found in fatty acid intake. This pattern is reversed among those self-reported as normotensive but with high blood pressure after actual measurement. We conclude that in this large prospective cohort, awareness or not of having high blood pressure at recruitment is associated with a differential dietary pattern.

Adult↗
PubMed2000

Neuroblastoma and bronchogenic cyst: a rare association.

A few of the known associations between paediatric cancer and congenital anomalies are attributable to contiguous-gene syndromes. Neuroblastoma (NB) has been linked with an excess of gastrointestinal malformations, but there is a significant scarcity of associated respiratory anomalies. We report on two children having an abdominal NB and a bronchogenic cyst diagnosed simultaneously and in different order of appearance. Both masses were removed in separated procedures, taking into account the priority and the time sequence of chemotherapy. Literature is reviewed, checking that the genetic basis for this association is supported by speculations about the oncogene RON.

Adrenal Gland Neoplasms↗
PubMed2000

Validation of self diagnosis of high blood pressure in a sample of the Spanish EPIC cohort: overall agreement and predictive values. EPIC Group of Spain.

STUDY OBJECTIVE: High blood pressure is a variable related to several chronic conditions whose repeated measurement in large cohort studies is often not feasible having to rely on the self reporting of the subjects. The aim of the study is to validate such self diagnosis in a sample of members from the Spanish EPIC cohort study. DESIGN: Comparison of high blood pressure self diagnosis with the information provided by the personal medical record drawn from the primary health centre of reference for such population. SETTING: A small town near the EPIC-Murcia centre, one of five Spanish EPIC centres located in the south east, where inclusion in the cohort was offered to the general population. PARTICIPANTS: The agreement between self reported high blood pressure status and data from medical records was measured in a representative sample of men and women (n = 248) aged 30-69 years. Medical records were studied for a diagnosis of high blood pressure, an anti-hypertensive pharmacological treatment or subject's inclusion in a hypertension control programme run in the medical centre only for hypertensive people (definite high blood pressure cases). As well, in the absence of such a diagnosis, medical annotations of systolic or diastolic high blood pressure > or = 140/90 mm Hg (possible high blood pressure cases) were considered. Sensitivity, specificity, positive and negative predictive values and kappa scores were calculated for all, definite and possible high blood pressure cases. Variables associated with the probability of having a true positive or negative self report of high blood pressure were also tested. MAIN RESULTS: As expected, sensitivity was higher among definite cases (72.7%) than among possible cases (31.6%). Accordingly, the agreement between self report and medical record was higher for definite cases (kappa = 0.65) than for possible (kappa = 0.29 cases leading to a moderate overall agreement for all cases (kappa = 0.58; 95% CI: 0.47, 0.69). Having some level of education (OR: 0.31; 95% CI: 0.09, 1.05) was negatively associated to a true self report of high blood pressure while being female was positively associated (OR: 4.01; 95% CI 1.04, 16.8). No variable showed any association with having a true self report of being normotensive. CONCLUSIONS: High blood pressure self report shows a moderate agreement with medical information in this cohort allowing it to be used, with caution, as a surrogate variable of actual blood pressure status. However, because of its moderate sensitivity, it is not possible to rule out some underestimation when using self reported high blood pressure information for high blood pressure frequency measurements such as prevalence or incidence rates. This underestimation will be higher among men and educated people.

Adult↗
PubMed2000

In vitro activity of cefepime and cefotaxime compared to six other agents against 350 penicillin-susceptible and penicillin-resistant Streptococcus pneumoniae.

From January 1996 to December 1997, we evaluated the in vitro activity of 8 antimicrobials (penicillin, amoxycillin, amoxycillin/clavulanate, cefuroxime, ceftazidime, cefepime, cefotaxime, and imipenem) against 350 Streptococcus pneumoniae clinical isolates collected from two hospitals. Imipenem, cefepime and cefotaxime were the most active antibiotics against penicillin-intermediate (PI) and highly penicillin-resistant (PR) S. pneumoniae with MICs 2- to 8-fold lower than penicillin. Against PI and PR pneumococci amoxycillin and amoxycillin/clavulanate were 2-times less active than cefepime and cefotaxime, while cefuroxime was 4-8-times less active. The majority of strains of serotypes 6B, 23F, 14, 9 and 19 were penicillin-resistant, both intermediate (68%) and highly resistant (32%).

Anti-Bacterial Agents↗