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Chagas disease (CD) is a parasitic disease endemic to continental Latin America that has globalized in recent years. The most relevant mechanisms of transmission of CD in non-endemic countries are transfusion with infected blood and mother-to-child transmission. There is limited information regarding practicing physicians' knowledge of CD transmission, clinical presentation, and treatment in non-endemic countries, including Spain. Our objective was to analyze the level of knowledge about CD in family and community medicine residents and how it has evolved over the last 5 years. A cross-sectional study was performed in the framework of the training program for family and community medicine specialists in Alicante, Spain. Convenience sampling was used to enroll 214 fourth-year family and community medicine residents from 2016 to 2020. Participants completed the validated Chagas Level of Knowledge Scale questionnaire prior to attending the seminar "Health Care for the Immigrant Population." The mean score on the scale was 7.1/10 points. Only 12 participants (5.6%) answered all questions correctly. Resident physicians who reported having received prior information on CD scored better than those who were not informed (mean, 7.2 versus 6.1 points). Participants from Latin America had scores similar to those of the rest of the participants. Over the 5-year study period, questionnaire scores tended to increase. Knowledge about CD among family and community medicine residents has improved in recent years, although it is still not optimal. Specific training on CD during specialized health care training is warranted.

Objective: To trace the evolution of type 1 diabetes (T1D) in Navarre in children under 15, between 1977 and 2016, and their characteristics at onset regarding age and sex., Subjects and Methods: We performed a descriptive analysis, using prospective-retrospective information. The study included all cases of T1D diagnosed in Navarre in children aged 0 to 14 years old from 1 January 1977 until 31 December 2016. The capture-recapture method was used, retrieving information from three independent sources: the five hospitals in Navarre as a primary source, and the Navarre Association of Diabetics (ANADI) and the primary healthcare system as the secondary source. Estimates and confidence intervals were calculated assuming a subjacent Poisson distribution. Chi square test was used to compare incidence between groups. The analysis of changes in incidence since 1977, adjusted for age group, sex and year of diagnosis, were evaluated with a multivariate Poisson regression model and joinpoint regression., Results: A total of 577 cases were registered resulting in a crude incidence rate of 14.99/100 000 inhabitants-year (95% confidence interval [CI]: 13.79-16.26). From 1977, the incidence has increased in cycles, reaching an incidence rate of 22.98 (95% CI: 18.52-28.21) in 2016. The relative annual increase is 3% (95% CI: 2.3-3.8). The highest incidence is in the 10 to 14 age group (P < 0.001). No differences in sex were found. The mean age at onset in children under 15 years has not changed significantly (P = 0.572)., Conclusions: The incidence of T1D in Navarre has increased 4-fold in the last four decades but is stable since 2001., (© 2018 The Authors. Pediatric Diabetes published by John Wiley & Sons Ltd.)

The present study analyses the gene expression profile of peripheral blood mononuclear cells (PBMC) from obese boys. The aims of the present study were to identify baseline differences between low responders (LR) and high responders (HR) after 10 weeks of a moderate energy-restricted dietary intervention, and to compare the gene expression profile between the baseline and the endpoint of the nutritional intervention. Spanish obese boys (age 10-14 years) were advised to follow a 10-week moderate energy-restricted diet. Participants were classified into two groups based on the association between the response to the nutritional intervention and the changes in BMI standard deviation score (BMI-SDS): HR group (n 6), who had a more decreased BMI-SDS; LR group (n 6), who either maintained or had an even increased BMI-SDS. The expression of 28,869 genes was analysed in PBMC from both groups at baseline and after the nutritional intervention, using the Affymetrix Human Gene 1.1 ST 24-Array plate microarray. At baseline, the HR group showed a lower expression of inflammation and immune response-related pathways, which suggests that the LR group could have a more developed pro-inflammatory phenotype. Concomitantly, LEPR and SIRPB1 genes were highly expressed in the LR group, indicating a tendency towards an impaired immune response and leptin resistance. Moreover, the moderate energy-restricted diet was able to down-regulate the inflammatory 'mitogen-activated protein kinase signalling pathway' in the HR group, as well as some inflammatory genes (AREG and TNFAIP3). The present study confirms that changes in the gene expression profile of PBMC in obese boys may help to understand the weight-loss response. However, further research is required to confirm these findings.

Objective: The aim of this study was to characterize glucokinase (GCK) alterations in maturity-onset diabetes of the young 2 (MODY2)-suspected patients and to investigate their clinical characteristics in relation to the parental origin of the mutation., Patients and Methods: We studied a group of 57 unrelated Spanish patients presenting with MODY2 phenotype. Patients without mutation in the coding region of the GCK gene were screened for rearrangements by Multiplex Ligation-dependent Probe Amplification (MLPA). After classification according to the parental origin of the mutation, clinical characteristics were compared between the groups., Results: We detected a point mutation or small deletion or insertion of the GCK gene in 47 patients (82.5%); 19 mutations were novel. In addition, we found a whole-gene deletion by MLPA. Patients carrying a GCK gene defect and those with MODY of unknown genetic origin shows similar phenotypes. Comparison of clinical parameters according to the origin of the mutation did not show any differences in the birth weight (BW) nor in age at diagnosis. Patients who inherited the mutation from the father had higher fasting glucose levels at diagnosis., Conclusion: Although the presence of haploinsufficiency of GCK is not a common cause of MODY2, gene dose analysis should be performed when no mutation is found. Strict maternal euglycaemia can contribute to intrauterine growth restriction and low BW when the foetus has inherited the GCK mutation from the mother. As foetal genotype in generally is not known, serial foetal abdominal scans may act as a surrogate for this.

Objective: The melanocortin 4 receptor gene (MC4R) is involved in body weight regulation. While many studies associated MC4R mutations with childhood obesity, information on MC4R mutations in Spanish children and adolescents is lacking. Our objective was to screen a population of children and adolescents from the north of Spain (Navarra) for MC4R mutations and to study the phenotypes of carriers and their families. In addition, functional assays were performed for a novel MC4R mutation., Methods: The study was composed of 451 Spanish children and adolescents (49% boys), aged 5-18 year. According to the International Obesity Task Force (IOTF) criteria, the groups included 160 obese, 132 overweight and 159 normal-weight control subjects., Results: One novel (Thr162Arg) and three known nonsynonymous mutations in the MC4R gene (Ser30Phe, Thr150Ile, Ala244Glu) were detected heterozygously. The MC4R mutations were found in three male (one obese and two overweight) and two female subjects (one obese and one overweight). The novel mutation did not appear to lead to an impaired receptor function. An unequivocal relationship of MC4R mutations with obesity in pedigrees together with an impaired function of the encoded receptor could not be established for any of the mutations., Conclusions: The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for obesity development, but lifestyle factors, such as exercise or sedentary activities, may modify their effect.

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.

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.

Objective: To validate an appointment system which leads to a high compliance of people over 65 invited to attend an interview., Design: A descriptive observational study of a crossover type, between February and June 1990., Setting: Primary Care; community activity., Patients or Other Participants: A representative sample of the population over 65 registered at the Cuenca 1 Health Centre, selected by means of systematic sampling., Measurements and Main Results: Personal letters, signed by the patients' own doctor, to make the appointment. If they did not attend, a second appointment was made by 'phone when possible or by letter if not. The overall reply was 73.79% (221 after the first appointment call and 55 after the second). 8.29% did not wish to carry out the interview; 12.30% were not located; 3.48% were incapacitated and 2.14% had died or were no longer registered at the centre., Conclusions: The following all favour the level of response: the personalized invitation, signed by the patient's doctor, stating the day and time; carrying out the interview at their Health Centre or home; and making a second appointment where necessary. At the same time these measures contribute to bringing our records up-to-date.