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Biomedical subjects

J I Emparanza

Publications and source records attributed to J I Emparanza.

At least 19 recordsLinked to original sources
PubMed2006

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population.

Alzheimer's disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D and C282Y) in 211 AD patients and 167 controls recruited from an area of the Basque Country. Furthermore, we have studied APOE genotype as it is a well-known risk factor for AD. APOE epsilon 4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included.

Aged↗
PubMed2006

Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease.

Parkinson's disease (PD) is the second most common age-related neurodegenerative disease after Alzheimer's disease (AD). Common risk factors for both diseases have been explored to study potential etiologic interactions between these two neurodegenerative disorders. The APOE epsilon4 allele, previously associated with AD, has also been associated with risk of PD and with the presence of some clinical features in PD patients. However, the role of APOE epsilon4 allele in risk of PD remains unclear. We studied the distribution of APOE alleles in 276 unrelated familial and sporadic PD patients and in 212 controls. Patients and controls were classified by ethnicity. No genetic heterogeneity between Basques and people from other regions of Spain was found. No significant differences in APOE allele distribution between PD patients and controls were found; however, lower epsilon4 allele frequency was observed when the sporadic PD group was analyzed separately. By contrast, an increase in epsilon4 allele frequency was found in familial PD patients with cognitive decline. We conclude that the APOE epsilon4 allele may be associated with the risk of developing PD in isolated cases and that it is linked to the presence of cognitive decline in familial PD in our sample.

Age of Onset↗
PubMed2006

Effect of vitamin D and calcium supplementation on bone turnover in institutionalized adults with Down's Syndrome.

OBJECTIVE: To assess the status of vitamin D and the effects of calcium and vitamin D3 supplementation on the bone metabolism in a group of adults with Down's syndrome (DS). DESIGN: Randomized, parallel, controlled and open clinical trial. SETTING: Institution for mentally handicapped: Fundación Uliazpi, Diputación Foral de Guipúzcoa, San Sebastián, Spain. SUBJECTS: A total of 23 persons with DS, residents at the Uliazpi Foundation were recruited and all completed the study. INTERVENTION: In all, 12 participants were randomly allocated to receive 1 g of calcium and 800 IU of vitamin D once daily for 1 year while 11 were assigned to the control group, receiving no supplementation. RESULTS: We found no differences between groups regarding serum calcium and phosphorous levels. The remaining parameters showed differences between the two groups consistent with a beneficial effect of the intervention: serum levels of parathyroid hormone, osteocalcin and crosslaps diminished while serum 25 OH vitamin D3 level increased. CONCLUSIONS: The results obtained allow to include people with DS as a risk group with regards to vitamin D deficit, which that can be corrected with vitamin D and calcium supplementation, and giving rise to an improvement of the biochemical markers related to the phospho-calcium metabolism and bone remodelling.

Adult↗
PubMed2005

Skin to calcaneus distance in the neonate.

BACKGROUND: Current recommendations for obtaining blood from neonates advise avoidance of the midline area of the heel and are based on postmortem studies. OBJECTIVE: Because of the potential pain and tissue damage from repeated heel pricking in the same area, to investigate using ultrasonography whether the distance from skin to calcaneus is less at the midline than at the borders. METHODS: One hundred consecutive healthy preterm and 105 consecutive healthy term neonates were studied 48-72 hours after delivery. The skin to perichondrium distance (SPD) was measured on two occasions by ultrasound at the external, midline, and internal areas of the heel. FINDINGS: Mean SPD was 0.2 mm less at the midline than at the other sites. The proportion of measurements <3 mm at any of the three sites was the same. Depth was <3 mm in less than 3% of the term and approximately 20% of the preterm infants. The SPD correlated only with gestational age. Of children <33 weeks gestational age, 38% had an SPD <3 mm compared with 8% of older preterm infants. The proportions of preterm infants of > or = 33 weeks gestation and term infants with an SPD <3 mm were similar (8% v 3%). INTERPRETATION: With the use of automated lancets of 2.2 mm length or less, the whole heel plantar surface is safe for obtaining blood in term and preterm infants of > or = 33 weeks gestation. This means that soft tissue damage and pain from repeated pricking in the same area can be reduced.

Anthropometry↗
PubMed2004

Mitochondrial haplogroups in Basque multiple sclerosis patients.

Previous studies have suggested that mitochondrial metabolism and/or mitochondrial DNA (mtDNA) could be, in conjunction with other genetic or environmental factors, a risk factor for the development of multiple sclerosis (MS). One of these studies establishes that mitochondrial haplogroup JT is a risk factor for developing the disease, in particular the visual manifestations [optic neuritis (ON)]. Nevertheless, as distribution of these haplogroups varies between populations, the observed association may be due to a slanted sample with no physiopathological value. This hypothesis was checked with MS patients, originals from Basque country (this population has peculiar genetic characteristics) and from other Spanish regions. We concluded that such an association does not exist. By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations.

Adult↗
PubMed2004

[Severe primary vesicoureteral reflux in infants. A follow-up of 203 cases].

OBJECTIVE: The aim of our study is to analyze the clinic characteristics and evolution of the primary reflux in infants. METHODS: We studied retrospectively 203 infants in our hospital, diagnosed of severe primary renal reflux. Renal ecography and cyclic mictional cystography were practiced in all cases. DMSA was carried out in 181 patients. RESULTS: Renal reflux was unilateral in the 23% of the patients, and bilateral in the remaining cases; 72% of the renal reflux were grade IV and 28% grade V. The renal injuries affected to male infants and reflux grade V. The renal injury was focal (27%), global (44%) and atrophic (29%). The 79% of the patients had conservative treatment, while 21% had surgical treatment. 100% infants with surgical treatment and 94.2% infants with conservative treatment were recovered (Test of Kaplan-Meier). The 27% of patients developed one or several urinary infections, but progression of old renal injuries or formation of new ones, were exceptional (3 cases): While the time the study lasted none of the patients developed chronic renal failure nor arterial hypertension. CONCLUSIONS: 1) The fetal severe primary reflux of the patients was characterized by the following features: to be bilateral reflux, to affect mainly to male infants and to be associated in 33% of cases with a severe renal injury of congenital origin (renal displasia) most of them unilateral. 2) The natural evolution of the reflux goes to spontaneous recovery, so treatment must be conservative. 3) Some patients underwent urinary infections, but progression or formation of new renal injuries were inusual. None of the patients had terminal renal failure nor hypertension and 4) Risk patients would be male infants with bilateral injuries although these are infrequent.

Female↗
PubMed2003

[Hospital admissions for varicella complications in children aged less than 15 years old].

BACKGROUND: The complications of varicella are one of the arguments in favor of universal vaccination programs in children. OBJECTIVE: To describe the complications of varicella requiring hospital admission in a well-defined population (Gipuzkoa, Spain) and to compare the incidence of hospitalization with that reported in other series. MATERIAL AND METHODS: Observational, retrospective, multicenter study of admissions for varicella. The medical histories codified as varicella (minimum data set, CIE-0, codes 952.0-052.9) from 1 January 1993 to 31 December 2002 were reviewed. Calculation of hospitalization rates was based on emergency department visits and population data. The pediatric population of Gipuzkoa seeking medical attention at one of the four Basque Country Health Service hospitals in the area: Hondarribia, Mendaro, San Sebastian and Zumarraga. The mean coverage in Gipuzkoa is 54,999 children aged less than 15 years/year. All the children aged 0-15 years old admitted for more than 24 h with a discharge diagnosis of varicella complications. The variables studied are: age, gender, personal history, varicella immunization, immune status, fever, chest X-ray, complementary investigations, length of hospital stay, treatment, discharge diagnosis, clinical course, complications and sequelae at discharge. RESULTS: Seventy-one children were hospitalized. None had been vaccinated against the varicella-zoster virus. Eighty percent were aged less than 5 years and three were immunocompromised. Fifty-six percent had bacterial superinfection and invasive forms were found in seven patients. The mean length of admission was 6.5 days +/- 5.1. No deaths or sequelae were reported. CONCLUSIONS: The annual incidence rate of admissions longer than 24 hours due to varicella complications was 12.9 cases per 100,000 children aged less than 15 years, representing 0.31% of all annual admissions in this age group.

Adolescent↗
PubMed2001

Strategies for increasing women participation in community breast cancer screening.

BACKGROUND: Strategies for reducing breast cancer mortality in western countries have focused on screening, at least for women aged 50 to 69 years. One of the requirements of any community screening program is to achieve a high participation rate, which is related to methods of invitation. Therefore, it was decided to systematically review the scientific evidence on the different strategies aimed at improving women's participation in breast cancer screening programs and activities. OBJECTIVES: To assess the effectiveness of different strategies for increasing the participation rate of women invited to community (population-based) breast cancer screening activities or mammography programs. SEARCH STRATEGY: MEDLINE (1966-2000), CENTRAL (2000), and EMBASE (1998-1999) searches for 1966 to 1999 were supplemented by reports and letters to the European Screening Breast Cancer Programs (Euref Network). SELECTION CRITERIA: Both published and unpublished trials were eligible for inclusion, provided the women had been invited to a community breast screening activity or program and had been randomised to an intervention group or a control group with no active intervention. DATA COLLECTION AND ANALYSIS: We identified 151 articles, which were reviewed independently by two people. The discrepancies were resolved by a third reviewer in order to reach consensus. Thirty-four studies were excluded because they lacked a control group; 58 of the other 117 articles were considered as opportunistic and not community-based; 59 articles, which reported 70 community-based randomised controlled trials or clinical controlled trials, were accepted. In 24 of these, the control group had not been exposed to any active intervention, but 8 of the 24 had to be excluded because the denominator for estimating attendance was unknown. At the end, 16 studies constituted the material for this review, although two studies were further excluded because their groups were not comparable at baseline. Data from all but one study were based on or converted to an intention-to-treat analysis. Attendance in response to the mammogram invitation was the main outcome measure. MAIN RESULTS: The evidence favoured five active strategies for inviting women into community breast cancer screening services: letter of invitation (OR 1.66, 95% CI 1.43 to 1.92), mailed educational material (OR 2.81, 95% CI 1.96 to 4.02), letter of invitation plus phone call (OR 2.53, 95% CI 2.02 to 3.18), phone call (OR 1.94, 95% CI 1.70 to 2.23), and training activities plus direct reminders for the women (OR 2.46, 95% CI 1.72 to 3.50). Home visits did not prove to be effective (OR 1.06, 95 % CI 0.80 to 1.40) and letters of invitation to multiple examinations plus educational material favoured the control group (OR 0.62, 95 % CI 0.32 to 1.20). REVIEWER'S CONCLUSIONS: Most active recruitment strategies for breast cancer screening programs examined in this review were more effective than no intervention. Combinations of effective interventions can have an important effect. Some costly strategies, as a home visit and a letter of invitation to multiple screening examinations plus educational material, were not effective. Further reviews comparing the effective interventions and studies that include cost-effectiveness, women's satisfaction and equity issues are needed.

Breast Neoplasms↗
PubMed2001

Awareness and use of the Ottawa ankle and knee rules in 5 countries: can publication alone be enough to change practice?

STUDY OBJECTIVES: We evaluate the international diffusion of the Ottawa Ankle and Knee Rules and determine emergency physicians' attitudes toward clinical decision rules in general. METHODS: We conducted a cross-sectional, self-administered mail survey of random samples of 500 members each of the American College of Emergency Physicians, Canadian Association of Emergency Physicians, British Association for Accident and Emergency Medicine, Spanish Society for Emergency Medicine, and all members (n=1,350) of the French Speaking Society of Emergency Physicians, France. Main outcome measures were awareness of the Ottawa Ankle and Knee Rules, reported use of these rules, and attitudes toward clinical decision rules in general. RESULTS: A total of 1,769 (57%) emergency physicians responded, with country-specific response rates between 49% (United States and France) and 79% (Canada). More than 69% of physicians in all countries, except Spain, were aware of the Ottawa Ankle Rules. Use of the Ottawa Ankle Rules differed by country with more than 70% of all responding Canadian and United Kingdom physicians reporting frequent use of the rules compared with fewer than one third of US, French, and Spanish physicians. The Ottawa Knee Rule was less well known and less used by physicians in all countries. Most physicians in all countries viewed decision rules as intended to improve the quality of health care (>78%), a convenient source of advice (>67%), and good educational tools (>61%). Of all physicians, those from the United States held the least positive attitudes toward decision rules. CONCLUSION: This constitutes the largest international survey of emergency physicians' attitudes toward and use of clinical decision rules. Striking differences were apparent among countries with regard to knowledge and use of decision rules. Despite similar awareness in the United States, Canada, and the United Kingdom, US physicians appeared much less likely to use the Ottawa Ankle Rules. Future research should investigate factors leading to differences in rates of diffusion among countries and address strategies to enhance dissemination and implementation of such rules in the emergency department.

Adult↗
PubMed2001

Validation of the Ottawa Knee Rules.

STUDY OBJECTIVE: We sought to validate the Ottawa Knee Rules for determining the need for radiography in patients with acute knee injury. METHODS: A prospective cohort study was performed in emergency departments of 11 hospitals of the Osakidetza-Basque Country Health Service. The patient population was composed of a convenience sample of 1,522 eligible adults of 2,315 patients with acute knee injuries. The attending emergency physicians assessed each patient for standardized clinical variables and determined the need for radiography according to the decision rule. Radiography was performed in each patient, irrespective of the determination of the rule, after clinical evaluation findings were recorded. The rule was assessed for the ability to correctly identify fracture of the knee. RESULTS: The decision rule had a sensitivity of 1.0 (95% confidence interval [CI] 0.96 to 1.0), identifying 89 patients with clinically important fractures. The potential reduction in use of radiography was estimated to be 49%. The probability of fracture, if the decision rules were negative, is estimated to be 0% (95% CI 0% to 0.5%). CONCLUSION: Prospective validation has shown the Ottawa Knee Rules to be 100% sensitive for identifying fractures of the knee and to have the potential to allow physicians to reduce the use of radiography in patients with acute knee injuries.

Acute Disease↗
PubMed2000

Serum carboxy-terminal propeptide of procollagen type I is a marker of myocardial fibrosis in hypertensive heart disease.

BACKGROUND: This study was designed to investigate whether the serum concentration of the carboxy-terminal propeptide of procollagen type I (PIP), a marker of collagen type I synthesis, is related to myocardial fibrosis in hypertensive patients. METHODS AND RESULTS: The study was performed in 26 patients with essential hypertension in which ischemic cardiomyopathy was excluded after a complete medical workup. Right septal endomyocardial biopsies were performed in hypertensive patients to quantify collagen content. Collagen volume fraction (CVF) was determined on picrosirius red-stained sections with an automated image analysis system. The serum concentration of PIP was measured by specific radioimmunoassay. Compared with normotensives, both serum PIP and CVF were increased (P<0.001) in hypertensives. A direct correlation was found between CVF and serum PIP (r=0.471, P<0.02) in all hypertensives. Histological analysis revealed the presence of 2 subgroups of patients: 8 with severe fibrosis and 18 with nonsevere fibrosis. Serum PIP was higher (P<0.05) in patients with severe fibrosis than in patients with nonsevere fibrosis. Using receiver operating characteristic curves, we observed that a cutoff of 127 microg/L for PIP provided 78% specificity and 75% sensitivity for predicting severe fibrosis with a relative risk of 4.80 (95% CI, 1.19 to 19.30). CONCLUSIONS: These results show a strong correlation between myocardial collagen content and the serum concentration of PIP in essential hypertension. Although preliminary, these findings suggest that the determination of PIP may be an easy and reliable method for the screening and diagnosis of severe myocardial fibrosis associated with arterial hypertension.

Adult↗
PubMed2000

A simple severity index for pressure ulcers.

The aim of this study was to design and test a pressure ulcer severity score based on assessment by experienced clinicians. Fifty pressure ulcers were each evaluated independently by seven experienced clinicians, using a scale that ranged from 0 (mildest damage) to 10 (most severe). Ulcer characteristics were analysed to determine which factors related to the assessments. A second set of 50 ulcers was used to test the validity of the resulting scoring system. Inter- and intra-observer reliability were tested in a further 10 pressure ulcers. A multivariate linear model was produced, based on the following three variables: colour (CO-matched-matched) in the wound base; depth (DE) of the ulcer; and mean diameter (D) of the wound ('CODED'). The coefficients for each variable were rounded to yield points in an additive equation, the CODED score. This score had a high correlation (r = 0.92, P < 0.001) with the second set of evaluations, used to test the score performance. The CODED score is a simple and valid tool to quantify the progress of a pressure ulcer. It has a high correlation with the severity assessment of experienced clinicians and is reliable when used by non-experienced observers.

Humans↗
PubMed2000

[Sleep apnea syndrome and cerebral infarction].

OBJECTIVES: To analyze the relationship between snoring and sleep apnea with brain infarction. METHODS: We studied 79 consecutive patients of both sexes with cerebral infarction and 248 age and sex matched controls. We obtained data reflecting arterial hypertension, diabetes mellitus, hypercholesterolemia, smoking and drinking habits, coronary heart disease, cardiopathy, snoring, respiratory pauses during sleep and daytime sleepiness, by using a standard questionnaire to interview every subject and his/her spouse. RESULTS: 53% of patients and 46% of controls snored often or always (p = 0.27). Snoring was significantly more frequent in men. Thirty four percent of patients and 27% of controls were snorers and suffered apnea during sleep (p = 0.19). Nineteen per cent of patients and 11% of controls presented snoring, respiratory pauses during sleep and daytime sleepiness simultaneously, suggesting obstructive sleep apnea syndrome (OSAS) (p = 0.06). However, by separately analyzing people younger than 65 years, the frequency of OSAS was significantly higher in patients (29%) than in controls (7%) (p = 0.006). Finally, 10% of patients and 3% of controls presented snoring, respiratory pauses during sleep and moderate or severe daytime sleepiness simultaneously, suggesting moderate-severe OSAS (p = 0.01). A multiple logistic regression analysis confirmed the independent contribution of moderate-severe OSAS as a risk factor for ischemic stroke, with an adjusted odds ratio of 4.54. In people younger than 65 years, OSAS, regardless of its severity, was also an independent risk factor for ischemic stroke, with an adjusted odds ratio of 5.78. CONCLUSIONS: Clinically diagnosed obstructive sleep apnea syndrome is an independent risk factor for ischemic stroke, especially in people younger than 65 years.

Adult↗
PubMed1996

[The excretion of free cortisol in the urine in healthy children and in asthmatics treated with long-term inhaled glucocorticoids].

OBJECTIVE: To assess urinary free cortisol (UFC) excretion in 24 hour urine samples collected from asthmatic children treated with inhaled glucocorticoids (IGC). PATIENTS AND METHODS: A retrospective cohort study was performed on a group of 358 children between the ages of 3 and 14 years. The children were divided into two groups, a normal population (n = 108) and an asthma group (n = 250). These children were treated uninterruptedly with IGC (mean dose 676 micrograms/day) during 17 +/- 8 months with budesonide (n = 221) or beclomethasone (n = 29) in dry powder (n = 167) or MDI with spacer chamber (n = 83). We considered the 24 hour urine sample valid when creatinine levels in blood and urine, as well as creatinine clearance, were normal. We determined UFC with a specific direct radioimmunoassay after cortisol extraction with dichloromethane. We performed a short ACTH test to assess the subnormal adrenocortical function when UC excretion in AG was less than -1SD. RESULTS: UFC excretion was 81.98 +/- 32.12 nmol/m2/day in the asthma group. There was no correlation between UFC and the mean dose of IGC, total dose given, device used for inhalation, time of treatment or oral glucocorticoid series. The subgroup treated with beclomethasone presented UF rates lower than the subgroup treated with budesonide. Except for two cases, the ACTH test performed in the AG had normal adrenocortical responses. CONCLUSION: 1) We established the normal values for UFC excretion in our pediatric population. 2) The long term asthma treatment with glucocorticoids at mean doses of 650 micrograms l/m2/day decrease physiologically the UFC excretion since the adrenocortical response remains within the normal range.

Administration, Inhalation↗
PubMed1995

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean maternal CTG allele in CMD cases was three times higher (700 repeats) than in non-CMD cases (236 repeats). When the maternal allele was in the 50-300 repeats range, 90% of children were non-CMD. In contrast, when the maternal allele was greater than 300 repeats, 59% inherited the congenital form. Furthermore, the risk of having a CMD child is also related to the intergenerational amplification, which was significantly greater in the mother-CMD pairs than in the mother-non-CMD pairs. Although the risk of giving birth to a CMD child always exists for affected mothers, our data show that such a risk is considerably higher if the maternal allele is greater than 300 repeats.

Adult↗
PubMed1995

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

To analyse the influence of the sex of the transmitting grandparents on the occurrence of the congenital form of myotonic dystrophy (CDM), we have studied complete three generation pedigrees of 49 CDM cases, analysing: (1) the sex distribution in the grandparents' generation, and (2) the intergenerational amplification of the CTG repeat, measured in its absolute and relative values, between grandparents and the mothers of CDM patients and between the latter and their CDM children. The mean relative intergenerational increase in the 32 grandparent-mother pairs was significantly greater than in the 56 mother-CDM pairs (Mann-Whitney U test, p < 0.001). The mean expansion of the grandfathers (103 CTG repeats) was also significantly different from that seen in the grandmothers' group (154 CTG repeats) (Mann-Whitney U test, p < 0.01). This excess of non-manifesting males between the CDM grandparents' generation with a smaller CTG length than the grandmothers could suggest that the premutation has to be transmitted by a male to reach the degree of instability responsible for subsequent intergenerational CTG expansions without size constraints characteristic of the CDM range.

Base Sequence↗