Juan Antonio Ortega-García

Transgenerational tobacco smoke exposure and childhood cancer: An observational study

Aim:  Although tobacco smoke is an established risk factor for adult cancer, studies of the association between parental smoking and childhood cancer have produced inconsistent results. To investigate the transgenerational relationship between pre‐natal and post‐natal tobacco smoke exposure from the grandmothers pregnancies until after the post‐natal period and childhood cancer.

Space–time clustering in childhood nervous system tumors in the Region of Murcia, Spain, 1998–2009

AimsThe aims of this study are the following: first, to analyze incidence, trends, and survival of nervous system tumors in children under the age of 15 in the Region of Murcia, Spain, during the years 1998–2009 and second, to evaluate if certain environmental exposures may be involved in the etiology of childhood nervous system tumors. The study was performed on the spatial and temporo-spatial distribution of the observed cases.MethodsThe Environment and Pediatric Cancer in the Region of Murcia is an ongoing research project aimed at carefully collecting pediatric environmental history (PEH) and to use geographical information systems to map the incidence and to analyze the geographical distribution of pediatric cancer incidence in our region. Between 1998 and 2009, 125 patients were diagnosed with nervous system tumors. The spatial and temporal space clusters were evaluated using Kulldorffs statistics. Address at diagnosis was the main feature evaluated.ResultsThe incidence (cases/million children) for central nervous system (CNS) tumors was 34.2, that for sympathetic nervous system tumors was 10.9, and that for retinoblastoma was 1.9. There was evidence of space clustering for medulloblastoma and space–time clustering for all tumors, CNS tumors, astrocytoma, and neuroblastoma.ConclusionsThe incidence and survival for each type and subtype of nervous system tumors were within the reported values for the European region. There is evidence that spatial and spatial–temporal distribution in these cases is not random. The development of a careful PEH in these patients will help to reinforce geographical information system studies and to ascertain the importance of associated risk factors.

Head circumference at birth and exposure to tobacco, alcohol and illegal drugs during early pregnancy

AimsWe aimed to assess the effects of exposure to tobacco smoke, alcohol and illegal drugs during early pregnancy on the head circumference (HC) at birth of otherwise healthy neonates.MethodsA follow-up study from the first trimester of pregnancy to birth was carried out in 419 neonates. An environmental reproductive health form was used to record data of substance exposure obtained during the first obstetric visit at the end of the first trimester. A multiple linear regression model was created for this purpose.ResultsAlcohol intake during pregnancy and medical ionizing radiation exposure were the most significant predictors of HC. The mothers’ alcohol consumption increased with the mothers’ and fathers’ education level, net family income and fathers’ alcohol consumption. In contrast, maternal smoking decreased with increasing mothers’ and fathers’ education level and net family income. About 13% of the surveyed embryos were exposed to illegal drugs.ConclusionsMild to moderate alcohol consumption diminishes the at-birth HC of theoretically healthy newborns in a linear form. There was no threshold dose. We perceived a need for increasing the awareness, and for training, of health care professionals and parents, in regard to risks of alcohol consumption and for recommending abstinence of these substances in both parents during pregnancy. It should also be remembered that medical ionizing radiation should be performed only during the first half of the cycle in fertile women. We think that our study has an important social impact as it affords data for implementing policies for promoting “healthy pregnancies”.

Programa de largo seguimiento de supervivientes de cáncer pediátrico en la Región de Murcia: preferencias y actitudes de los profesionales de Atención Primaria

OBJECTIVE To assess attitudes, beliefs and knowledge of primary medical care professionals as regards the follow-up of Childhood Cancer Survivors (CCS) and the introduction of a Long-Term Follow-Up Program for Childhood Cancer Survivors in the Region of Murcia (PLASESCAP-MUR). MATERIAL AND METHODS Descriptive cross-sectional study using a structured, self-administered questionnaire. These questionnaires were sent to all primary medical care professionals in Murcia Health District 1. RESULTS Response rate of 58% (100/172), with 71% and 22% being family physicians and pediatricians, respectively, of whom 49% provided medical care to a CCS in the last 5 years, with 84% reporting that they never or rarely received a detailed report of overall assessment of the survivor. More than 75% found that access to detailed follow-up information was quite or very useful; 95% prefer to consult experts when providing medical care to survivors, and 80% believe that improving the quality of the environment may decrease the morbidity and mortality of the survivors. A statistically significant relationship was found between the length of practicing medicine and the perception of the importance of environmental factors. CONCLUSIONS It seems to be important to increase the training of primary care professionals for the long-term follow-up of CCS, as well as having the detailed information through a personalized long-term follow-up of each survivor. PLASESCAP-MUR offers an integrated follow-up to CCS in a model of shared care between Long Term Monitoring Units and Primary Care Units.

Paediatric environmental health speciality units in Europe. For when

More than 5 million children younger than 14 years of age die yearly worldwide due to illnesses related to the environment where they live, study and play [11]. Around 100,000 chemical compounds contaminate the natural ecosystems [12]. More than 40% of the illnesses attributed to the environmental risk factors affect children under 5 years of age [10,11]. The World Health Organisation considers paediatric environmental health as one of the main sanitary challenges of the 21st century and stimulates the development of strategies that allows us to approach, disclose and solve the problems of paediatric environmental health in special units and centres of excellence [3,4]. The European Strategy on Environment and Health recently recognised that childhood should be a special focus of attention and established the terms for the creation of experts’ groups and multidisciplinary technicians (including paediatricians) to plan and deepen environmental health aspects [2]. The ministerial summit of the European Union in June 2004, refusing to be impassive to the necessity of our times, has committed itself to try and deal with the relationship between childhood, health and environment with the motto ‘‘The Future of our Children’’ [1]. Following the steps and the direction marked by groups of European pioneers [13], the first Paediatric Environmental Health taskforce was formed in Spain in 2001 [5]. Taking a step forward, according to the guidelines of the WHO, UNICEF, UN, European Environmental Agency, American Environmental Protection Agency and the American Academy of Pediatrics, we have begun the long way towards the consolidation and recognition of Paediatric Environmental Health as a new, emergent and necessary sub-speciality of Paediatrics in Spain and Europe [6]. In the Paediatric Environmental Health Speciality Unit Valencia (PEHSU-VALENCIA) (http://www. pehsu.org) our final objectives can be summarised as follows:

The Impact of Secondhand Smoke Exposure on Children with Cystic Fibrosis: A Review

Secondhand smoke exposure (SHSe) has multiple adverse effects on lung function and growth, nutrition, and immune function in children; it is increasingly being recognized as an important modifier of disease severity for children with chronic diseases such as cystic fibrosis (CF). This review examines what is known regarding the prevalence of SHSe in CF, with the majority of reviewed studies utilizing parental-reporting of SHSe without an objective biomarker of exposure. A wide range of SHSe is reported in children with CF, but under-reporting is common in studies involving both reported and measured SHSe. Additionally, the impact of SHSe on respiratory and nutritional health is discussed, with potential decreases in long-term lung function, linear growth, and weight gain noted in CF children with SHSe. Immunologic function in children with CF and SHSe remains unknown. The impact of SHSe on cystic fibrosis transmembrane conductance regulator (CFTR) function is also examined, as reduced CFTR function may be a pathophysiologic consequence of SHSe in CF and could modulate therapeutic interventions. Finally, potential interventions for ongoing SHSe are delineated along with recommended future areas of study.

Violence against Women and Gastroschisis: A Case-Control Study

Background: Gastroschisis, a birth defect characterized by herniated fetal abdominal wall, occurs more commonly in infants born to teenage and young mothers. Ischemia of the vascular vitelline vessels is the likely mechanism of pathogenesis. Given that chronic stress and violence against women are risk factors for cardiovascular disease we explored whether these may represent risk factors for gastroschisis, when they occur during pregnancy. A case-control study was conducted, with 15 incident cases of children born with gastroschisis in the Region of Murcia, Spain, from December 2007 to June 2013. Forty concurrent controls were recruited at gestation weeks 20–24 or post-partum. All mothers of cases and controls completed a comprehensive, in-person, ‘green sheet’ questionnaire on environmental exposures. Results: Mothers of children with gastroschisis were younger, smoked more cigarettes per week relative to controls, were exposed to higher amounts of illegal drugs, and suffered from domestic violence more frequently than the controls. Multivariable logistic regression analysis highlights periconceptional ‘gender-related violence’ (OR: 16.6, 95% CI 2.7 to 101.7) and younger maternal age (OR 1.1, 95% CI 1.0–1.3). Conclusions: Violence against pregnant women is associated with birth defects, and should be studied in more depth as a cause-effect teratogenic. Psychosocial risk factors, including gender-based violence, are important for insuring the health and safety of the pregnant mother and the fetus.

Seguimiento a largo plazo de un programa de prevención y cesación tabáquica en pacientes con fibrosis quística

This study evaluates the impact over time of a telephone-based intervention in tobacco cessation and prevention targeting patients with cystic fibrosis (CF) in the Mediterranean region of Murcia, Spain. We conducted an experimental prospective study with a cohort of CF patients using an integrative smoking cessation programme, between 2008 and 2013. The target population included family members and patients from the Regional CF unit. The study included an initial tobacco exposure questionnaire, measurement of lung function, urinary cotinine levels, anthropomorphic measures and the administered intervention at specific time intervals. Of the 88 patients tracked through follow-up, active smoking rates were reduced from 10.23% to 4.55% (p = 0.06). Environmental tobacco exposure was reduced in non-smoker patients from 62.03% to 36.90% (p < 0.01) during the five year follow-up. Significant reductions in the gradient of household tobacco smoke exposure were also observed with a decrease of 12.60%, from 31.65% (n = 25/79) to 19.05% (n = 16/84) in 2013 (p = <0.01). Cotinine was significantly correlated with both active and passive exposure (p<0.01) with a significant reduction of cotinine levels from 63.13 (28.58-97.69) to 20.56 (0.86-40.27) ng/ml (p<0.01). The intervention to significantly increase the likelihood of family quitting (smoke-free home) was 1.26 (1.05-1.54). Telephone based interventions for tobacco cessation and prevention is a useful tool when applied over time. Trained intervention professionals in this area are needed in the environmental health approach for the treatment of CF.

Contaminación atmosférica y salud de los niños

a Pediatric Environmental Health Speciality Unit, Department of Paediatrics, Laboratory of Environmental and Human Health (A5) Instituto de Investigación Biomédica, IMIB-Arrixaca, Hospital Clínico Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, España b Comité de Salud Medioambiental, Asociación Española de Pediatría, Madrid, España c Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España d Sociedad Española de Neumología Pediátrica, Asociación Española de Pediatría, Madrid, Españaa Pediatric Environmental Health Speciality Unit, Department of Paediatrics, Laboratory of Environmental and Human Health (A5) Instituto de Investigación Biomédica, IMIB-Arrixaca, Hospital Clínico Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain b Comité de Salud Medioambiental, Asociación Española de Pediatría, Madrid, Spain c Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain d Sociedad Española de Neumología Pediátrica, Asociación Española de Pediatría, Madrid, Spain

R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series

BackgroundMutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories.Case presentationAll three patients are of Spanish descent. Deoxyribonucleic acid analysis revealed that all three siblings possessed a novel c.742A>G mutation, resulting in a p.Arg248Gly (R248G) amino acid change in exon 6 in trans with the known N1303K mutant allele. Case 1 patient is a 39-year-old infertile man presenting with congenital unilateral absence of the vas deferens and recurrent episodes of epigastric pain. Case 2 patient is a 32-year-old woman presenting with periods of infertility, two previous spontaneous abortions, recurrent epigastric pain, and recurrent pancreatitis. Case 3 patient is a 29-year-old woman presenting with recurrent pancreatitis and epigastric pain.ConclusionsWe report the genotype-phenotype correlations and clinical manifestations of a novel R248G cystic fibrosis transmembrane conductance regulator mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.