Second trimester amniotic fluid adiponectin level is affected by maternal tobacco exposure, insulin, and PAPP-A level.

OBJECTIVES: Adiponectin is an adipocyte-derived plasma protein with insulin-sensitizing and antiatherosclerotic properties. The objectives of the present study were to determine the amniotic fluid (AF) concentration of adiponectin during the second trimester of pregnancy and to demonstrate its association with maternal and fetal variables and AF concentrations of insulin, leptin, and pregnancy-associated-plasma-protein A (PAPP-A). STUDY DESIGN: We performed a cross-sectional study of 222 pregnant women who underwent amniocentesis at 15-18 weeks for genetic reasons. No malformation or chromosomal disorder was found in the newborn after birth. AF adiponectin, leptin, PAPP-A, and insulin concentrations were measured using commercially available assays. All maternal, fetal, and biochemical variables were studied using univariate and multivariate linear regression analysis to determine their association with the AF concentration of adiponectin. RESULTS: Adiponectin concentration was negatively correlated with maternal smoking status (ß=-5.208; p<0.001) and positively correlated with levels of insulin (ß=0.621; p=0.002) and PAPP-A (ß=40.150; p<0.001). Non-significant correlations were found between adiponectin concentration and maternal age, maternal body mass index, gestational age at amniocentesis, fetal gender, and AF level of leptin. CONCLUSION: These findings suggest that the fetus and its membrane adipocytokines, in relationship with maternal and other fetal variables, play a dynamic role in the regulation of energy and oxidative stress homeostasis due to its insulin-sensitizing and antiatherosclerotic effects. The association of these molecules with maternal tobacco consumption during pregnancy could have perinatal implications.

Chronic fatigue syndrome: aetiology, diagnosis and treatment.

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome.

[Sociosanitary impact on patients with rare diseases (ERES study)]. / Impacto sociosanitario en pacientes con enfermedades raras (estudio ERES).

BACKGROUND AND OBJECTIVE: The impact and burden of disease of the rare diseases (RD) is not known, also the type of disability that entail. The objective of the work is to analyze the socio-sanitary impact of the RD in Spain. PATIENTS AND METHOD: This is a nationwide study. The dimensions used were mobility, personal care and daily activities of the EUROQoL-5D questionnaire to analyze the degree of dependency of the patient with RD. RESULTS: 714 surveys were analyzed. 51.2% were men; 21.1% were children and 78.9% adults. The more frequent laboral status were: retired/pensioner, active and student (35.3%; 29.2%, and 17.1% respectively). In the last quarterly 8.4% of the patients were in situation of transitory labor incapacity: 5.7% men and 11.9% women (p < 0.005). The patients referred disability (slight or moderate degree) in the areas: physical (87.7%), emotional (83.6%), social (75.6%) and sensorial (53%). They presented severe mixed disability (sensorial and physic) in 6.4%. Patient organisations, physicians and Internet (80.1%; 48.2% and 47.3% respectively) were the used sources of information. The patients were more satisfied with doctor's care than social worker's (47% and 2.4% respectively), considering doctors more accessible than social workers (32.4% and 13.1% respectively). CONCLUSIONS: RD present a high percentage of disability and dependency, being both more severe in children. The patient organisations are the main source of information. Patients are more satisfied and consider the doctor more accessible than the social worker. This work might serve to make decisions in the socio-sanitary assistance for RD.

[Need for primary care training in rare diseases]. / Necesidades de formación en enfermedades raras para atención primaria.

OBJECTIVES: The problem of the need for primary care (PC) training in rare diseases (RD) is approached through a qualitative research study that tries to define its relevance and to identify the need for RD training in PC. METHODS: By means of naturalistic research methods (in-depth interviews and group dynamics), we tried to discover the personal and professional connotations of PC training in RD in the rural and urban areas of the Community of Madrid, Spain. The areas explored by means of structured interview were: challenges and RD definition; professional experience with RD; relevance of PC for RD; training and information in RD; needs and demands for RD in PC. RESULTS: We found no differences between the rural and urban groups nor between different professional categories. The RD concept was relatively unknown and difficulties arose in understanding the magnitude and overall importance of these diseases. Nor did the RD concept express the severity or the repercussions of these diseases. RDs awoke little professional interest, in contrast with the human interest aroused. CONCLUSIONS: The professionals interviewed thought that undergraduate training was sufficient, and rejected postgraduate training as unnecessary and unfeasible. The search for active information through Internet was the best way to obtain data to optimize criteria for patient referral. As such, the Information System for Rare Diseases in Spanish (Sistema de Información de Enfermedades Raras en Español, SIERE) (http://iier.isciii.es/er) meets the demands for information.