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Biomedical subjects

M Chueca

Publications and source records attributed to M Chueca.

12 recordsLinked to original sources
PubMed2006

[The vacuum chest wall lifter in the treatment of pectus excavatum].

Since 2002, the Eckart Klobe vacuum has been used in our Service as an innovate and non-invasive procedure in patients with pectus excavatum. This vacuum method contributes not only to hold promise as a valuable adjunct in minimally invasive surgery, but also as an effective method to lift and fix the funnel for repairing pectus excavatum in some patients. Our experience is limited to the use of this device in 10 patients, during the Nuss technique. This procedure has been useful for safer passage of the introducer, and as a definitive treatment in a 10 years old girl with pectus excavatum and a Haller index of 5.1 with successful result after one year of treatment. The aim of this study is to report the safety and efficacy of this procedure in appropriate patients. Long-term results will be necessary to confirm this method as an alternative to more invasive techniques.

Child↗
PubMed2004

Gene-gene interaction between PPAR gamma 2 and ADR beta 3 increases obesity risk in children and adolescents.

AIMS: Multiple genes are likely to be involved in obesity and these genes may interact with environmental factors to influence obesity risk. Our aim was to explore the synergistic contribution of the two polymorphisms: Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene to obesity risk in a Spanish children and adolescent population. METHODS: We designed a sex- and age-matched case-control study. Participants were 185 obese and 185 control children (aged 5-18 y) from the Navarra region, recruited through Departments of Pediatrics (Hospital Virgen del Camino, Navarra University Clinic and several Primary Health Centers). The obesity criterion (case definition) was BMI above the 97th percentile according to Spanish BMI reference data for age and gender. Anthropometric parameters were measured by standard protocols. The genotype was assessed by PCR-RFLP after digestion with BstUI for PPAR gamma 2 mutation and BstNI for ADR beta 3 variants. Face-to-face interviews were conducted to assess the physical activity. Using a validated physical activity questionnaire, we computed an activity metabolic equivalent index (METs h/week), which represents the physical exercise during the week for each participant. Statistical analysis was performed by conditional logistic regression, taking into account the matching between cases and controls. RESULTS: Carriers of the polymorphism Pro12Ala of the PPAR gamma 2 gene had a significantly higher obesity risk than noncarriers (odds ratio (OR)=2.18, 95% CI=1.09-4.36) when we adjusted for sex, age and physical activity. Moreover, the risk of obesity was higher (OR=2.59, 95% CI=1.17-5.34) when family history of obesity was also taken into account in the model. The OR for obesity linked to both polymorphisms (PPAR gamma 2 and ADR beta 3) was 5.30 (95% CI=1.08-25.97) when we adjusted for sex, age and physical activity. After adjustment for family history of obesity, the OR for carriers of both polymorphisms was 19.5 (95% CI=2.43-146.8). CONCLUSIONS: A synergistic effect between polymorphism Pro12Ala of the PPAR gamma 2 gene and Trp64Arg of the ADR beta 3 gene for obesity risk was found in a case-control study including children and adolescents.

Adolescent↗
PubMed2002

[Childhood obesity].

Obesity during childhood and adolescence is an increasingly frequent cause for medical consultation. The increase in the prevalence of this disease, which has been considered as an epidemic by the World Health Organisation, is worrying. Obesity is a complex disease, whose aetiology still remains to be clarified due to the numerous factors involved: environmental, genetic, life style and behavioural, neuroendocrinological and metabolic. The persistence of childhood obesity until adulthood significantly increases the risk of suffering from diabetes mellitus, cardiovascular disease, hypertension, cholecystitis and cholelithiasis. Treatment of obesity is complicated and few patients regularly attend follow up examinations. A multidisciplinary team is required to carry out a suitable treatment, composed of paediatricians, dieticians, nurses, psychologists and psychiatrists. Successful treatment of obesity resides in reducing the calorie intake in relation to energy expenditure, and at the time providing instruction in appropriate eating habits and life styles that in the long term will promote the maintenance of the ideal weight.

English Abstract↗
PubMed2002

[Hypogrowth. General considerations].

Growth is a basic indicator of the state of health of a child. Many pathologies that occur during childhood can have an incidence and affect final height in an evident way. The evolution and periodic follow up in the examination of the health of height and weight is a compulsory control for paediatricians, who must detect early alterations that might correspond to responsible pathologies and make possible a correct diagnosis and treatment as early as possible. The time of growth in the life of a person is not long, and the importance of a careful follow up derives from this. In this paper we review the factors that interact in growth, the methodology to follow in primary health consultation in order to establish a diagnosis, and the follow up when dealing with a low height. We include the classification of growth retardation that makes it possible to differentiate the low height denominated idiopathic from the pathological.

English Abstract↗
PubMed1999

A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family.

Congenital adrenal hyperplasia is most frequently due to steroid 21-hydroxylase (21-OH) deficiency. Due to the existence of a pseudogene in tandem duplicated with the 21-OH gene, asymmetric recombination causes the majority of the molecular defects underlying this deficiency: gene conversions and deletions of the functional gene. Screening for a small array of mutations, those existing in the pseudogene together with deletions, allows the characterization of most mutated alleles, 91% in the Spanish population. We report the case of a boy from a nonconsanguineous family, diagnosed during the neonatal period of a salt-wasting form of the deficiency, in which this screening did not allow the characterization of the paternal or the maternal allele. This infrequent finding in a nonconsanguineous family was further investigated. Single-strand conformation polymorphism screening for new mutations revealed an abnormally migrating pattern when polymerase chain reaction fragments from 21-OH gene exon 1 of the patient and relatives were analyzed. Upon direct sequencing, the insertion of a T at position 64 (64insT, frameshift generating a stop codon at exon 2) was found in homozygosity in the patient. Microsatellite typing in the HLA region revealed the patient to be homozygous for five markers (heterozygosities 0.62 to 0.74). Apparently this new mutation was generated several generations ago and has been preserved for years. Consanguinity had been discarded for several generations, although both families could be traced back to a small rural area in Navarra (Spain).

Amino Acid Sequence↗
PubMed1998

Multicentre survey on compliance with growth hormone therapy: what can be improved?

A survey was undertaken to evaluate compliance in Spanish patients receiving growth hormone treatment. The 28-item structured questionnaire was designed to collect data on compliance, treatment schedule, device used and instruction received. In total, 473 questionnaires were completed in 17 paediatric endocrine units. Compliance was divided into four categories based on percentage of doses omitted, classified as excellent if 0%, good <5%, fair 5-10% and poor >10%. The level of compliance was excellent in 74.0%, good in 20.1%, fair in 3.4% and poor in 2.5%. Compliance was better in those who injected themselves (p < 0.01), were trained by hospital staff (p < 0.01) and used automatic pens (p < 0.05). Patients using conventional syringes were less likely to comply (p < 0.05). More information on growth hormone treatment was requested by 57.6% of patients. The results indicate that the specialist nurse should spend sufficient time with the patients and relatives to ensure a higher compliance rate.

Adolescent↗
PubMed1997

Incidence of type I diabetes mellitus in Navarre, Spain (1975-91).

The aim of this study was to ascertain the incidence of Type 1 diabetes mellitus in Navarre, an autonomous community in northern Spain. Subjects were patients who presented with diabetes between 1975 and 1991, age range 0-16 years, resident in Navarre at the onset of symptoms. Endocrinologists in outpatient centres and hospitals (both public and private) in Navarre were the primary source of data, while secondary sources were: independent general practitioners, health centre paediatricians and the Child-Youth Diabetics Parents' Association of Navarre. The degree of ascertainment was 97.8%. Average annual incidence of diabetes detected was 9.54/100000 (95% CI 8.2-11.1) in the 0-14 year-old group. The least incidence was observed in 1976 and highest in 1990. The incidence in males (9.71/100000) was higher than in females (7.83/100000). The highest incidence was observed in the 10-14 year-old group (13.70/100000) when analysed by groups. No seasonal variation in the onset of diabetes was observed. These results suggest a significant increase in the incidence of type 1 diabetes between 1975 and 1991.

Adolescent↗
PubMedDate not supplied

[Child obesity in Navarra: evolution, tendency and relation between child and adult obesity. Pecna study].

INTRODUCTION: Excess of weight at an adult age is linked to an increased risk of dying. Obesity during childhood has been increasing in recent years in the developed countries. The aim of this study is to determine the prevalence of obesity in an infant-youth population of Navarra and its follow up over six years. MATERIAL AND METHODS: Longitudinal study of a cohort formed by 1,164 children of both sexes of 4, 10 and 17 years of age at the start of the study, with data collection in 1987 and 1993. Obesity was calculated using the Index of Corporal Mass or Quetelet Index (QI) higher than percentile 90 for their age and sex. RESULTS: The rate of response obtained was 63.3% (n=737). Between 1987 and 1993 there was an increase of 5% in the obese population (p<0.01). There is a significant correlation (r=0.72) between the values of the QI at the start of the study and those obtained at its conclusion. Some 61.4% of the individuals belonging to the higher quintile of the sample at the start of the study continued belonging to this quintile after six years of follow up. CONCLUSIONS: There was an increase in obesity, in correspondence with the findings of similar studies. There is good "tracking" between obesity during childhood and its presence at an adult age. The strategies for prevention of obesity must start from infancy.

English Abstract↗
PubMedDate not supplied

[Neonatal screening of congenital Hypothyroidism: result of the Navarra program].

The incidence of congenital Hypothyroidism is estimated at one case per 3,000-4,000 newly born. It is a proven fact that early diagnosis and treatment of this problem prevents mental retardation, which has led to the design and utilisation of methods of systematic detection in the newly born. The implantation of the screening program is relatively recent and progressive in some autonomous communities. With respect to the achievements that are being obtained by the program outstanding is the shorter time with respect to initiation of the treatment, but there still remain some shortcomings such as that of carrying out a longitudinal follow up of these infants, with respect to the evaluation of the development quotient, hence the need to have available hospital psychologists to carry out these evaluations. The expectations of achieving a mental development within normality in the children affected by congenital Hypothyroidism detected by the neonatal screening is a fact confirmed by many authors, for which reason it is highly encouraging to view the results of early detection of this neonatal screening.

English Abstract↗