Publications by authors named "José Manuel Moreno Villares"

59 Publications

An Ethical Pathway to Quality of Life in Critically Ill Newborns.

New Bioeth 2021 Jun 13;27(2):148-158. Epub 2021 Apr 13.

Department of Pediatrics, Clínica Universidad de Navarra, Madrid, España.

Advances in perinatology have permitted the survival of fragile neonates. Quality of life (QoL) has been considered a key element in medical decision-making. In this review we analyse the role of QoL regarding the decision of withholding or withdrawing of life-sustaining treatment (LST). The role of QoL is debated because of the conceptual difficulties it raises. The lack of consensus on its definition and the difficulties in measuring it objectively, mean that basing clinical decisions solely on QoL has some risks. To avoid a purely subjective assessment, the principle of totality, and the principle of therapeutic adequacy should be considered. In case of uncertain prognosis, some therapeutic persistence seems reasonable. If this does not benefit the clinical condition of the child, then it may be no longer appropriate to continue the LST in case of severe disabilities. QoL is essential in medical decision-making, but is insufficient as the only criterion.
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http://dx.doi.org/10.1080/20502877.2021.1911741DOI Listing
June 2021

[Role of breakfast and its quality in the health of children and adolescents in Spain].

Nutr Hosp 2021 Apr;38(2):396-409

Clínica Universidad de Navarra.

Introduction: Eating breakfast is a healthy habit that should be encouraged since childhood. When it provides nutritional quality, it is an important daily meal. The consumption of dairy products, cereals, and fruits at breakfast is associated with healthier dietary patterns, with a beneficial impact on the overall quality of the diet. In Spain, as in many other countries, the proportion of children who eat breakfast daily is very high, decreasing somewhat in adolescence. However, the quality of breakfast leaves room for improvement, with a low proportion of children/adolescents with high nutritional quality breakfasts. Children/adolescents who eat breakfast regularly have a higher intake of various nutrients (especially vitamins and minerals) than those who do not eat breakfast. Although the evidence is not entirely conclusive, numerous studies have shown various benefits when comparing the population that eats breakfast regularly versus those who do not, such as cardiometabolic risk parameters (obesity, diabetes, blood pressure and lipid profile) and cognitive functions. Breakfast should be included in healthy eating plans, since it allows incorporating foods that are difficult to consume in other meals and may contribute to reducing the risk of developing cardiometabolic diseases. In order to promote the intake of a healthy breakfast, it is essential to act on the sociodemographic and cultural factors that influence compliance and quality, such as age, nutritional education (mainly parents and children/adolescents, but also other family members, school mates, friends...), carrying it out as a family, adapting it to the tastes of each population and balancing quality and costs.
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http://dx.doi.org/10.20960/nh.03398DOI Listing
April 2021

[School lunch menus in Spain. A review on recommendations and policy].

An Pediatr (Engl Ed) 2021 Feb 26. Epub 2021 Feb 26.

Centro de Salud de Fingoi, Lugo, España; CS Valencia Serrería II, Valencia, España. Electronic address:

Introduction: An appropriate diet in childhood is essential for suitable growth and development, but it is also essential for preventing the development of non-communicable diseases in later stages. The School stage is fundamental. A significant proportion of students in Spain make use of the school lunch. We review the current situation in Spain, as well as public policy on school lunch and a nationwide review of specific legislation on each Autonomous Community.

Material And Methods: National public policy and specific considerations in every Autonomous Community were reviewed. Only considerations on the composition of the school menu were considered.

Results: There are relatively recent state regulations but on school lunch menus also specific to each Autonomous Community. In general, and within a certain heterogeneity, they refer to the distribution of the diet and foods to be restricted. They usually provide guidelines, examples of daily menus, and graphic representations. Regarding school menus, there is a trend towards improvement in nutritional adequacy, but there is still room to improve. There are certain aspects related to the best solutions yet to be elucidated: management model, type of supervision, sustainability and local consumption, as well as school lunch schedules.

Conclusions: The nutritional contributions made in the school canteens are qualitatively and quantitatively important. In addition, it must fulfill educational and social equity functions. Although these concerns address specific recommendation in every Autonomous Community, there is huge heterogeneity on practical implementations.
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http://dx.doi.org/10.1016/j.anpedi.2021.01.010DOI Listing
February 2021

[Changes in the Editorial Board].

Nutr Hosp 2021 Feb;38(1):217

Clínica Universidad de Navarra.

Introduction:
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http://dx.doi.org/10.20960/nh.03566DOI Listing
February 2021

[Editor's corner: 2020, the year of the pandemic COVID-19].

Nutr Hosp 2021 Feb;38(1):1-2

Endocrinología y Nutrición. Hospital Regional Universitario de Málaga.

Introduction:
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http://dx.doi.org/10.20960/nh.03508DOI Listing
February 2021

[Vox Paediatrica. Authors repply].

An Pediatr (Engl Ed) 2021 Jan 11;94(1):63. Epub 2020 Nov 11.

Director de Acta Pediátrica Española.

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http://dx.doi.org/10.1016/j.anpedi.2020.10.004DOI Listing
January 2021

[National recommendations on paediatric organ donation].

An Pediatr (Barc) 2021 Jun 31;94(6):429. Epub 2020 Oct 31.

Departamento de Pediatría, Clínica Universidad de Navarra, Madrid, España. Electronic address:

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http://dx.doi.org/10.1016/j.anpedi.2020.09.012DOI Listing
June 2021

[Nutritional Study in Spanish Pediatric Population (EsNuPI)].

Nutr Hosp 2021 Jan;37(Spec No2):3-7

Universidad de Granada.

Introduction: Introduction: promoting healthy lifestyles already from the pediatric age for prevention of diseases at a short, mid and long-term is compulsory worldwide. Objectives: to know eating patterns and dietary habits, physical activity and sedentary behaviours in urban Spanish children aged one to nine years old, no vegan, by evaluating the differences between standard milk consumers (RS) and milk formula (AMS). Methods: prospective, observational, cross-sectional study with 1,514 children. A food frequency questionnaire, a physical activity and sedentary behaviour questionnaire, and two 24-hour dietary recalls (one face-to-face and one by phone) were used. Results: the daily energy intake was significantly higher in the RS group (1,503 Kcal vs 1,404 Kcal). The contribution of protein and fat to the total caloric value of the diet is high, being for the first one significantly higher in RS (16.5 % vs 15.6 %). However, for carbohydrate is low and significantly higher in AMS (46.7 % vs 45.5 %). The contribution of the food groups to the energy intake present significant differences between the groups. Conclusions: Spanish children between 1-9 years old have an adequate, but slightly elevated energy intake than the recommendations. There is a high contribution of protein and fat, and low of carbohydrate to the total caloric value. AMS children have a higher adherence to dietary guidelines and nutritional recommendations and, therefore, a suggested higher diet quality.
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http://dx.doi.org/10.20960/nh.03348DOI Listing
January 2021

Experience With Teduglutide in Pediatric Short Bowel Syndrome: First Real-life Data.

J Pediatr Gastroenterol Nutr 2020 12;71(6):734-739

Navarra University Clinic, Madrid, Spain.

Objectives: The aim of the study was to describe the experience with teduglutide of several Spanish hospitals in pediatric patients with SBS (SBS).

Methods: Seventeen pediatric patients with intestinal failure associated with SBS were treated with teduglutide. Patients received 0.05 mg · kg · day of subcutaneous teduglutide. Patients' demographics and changes in parenteral nutrition (PN) needs, fecal losses, and citrulline level initially and at 3, 6, and 12 months were collected, as well as any adverse events.

Results: Patients were receiving 55 ml · kg · day and 33 kcal · kg · day of parenteral supplementation on average at baseline (2 patients received only hydroelectrolytic solution). A total of 12/17 patients achieved parenteral independence: 3 patients after 3 months of treatment, 4 patients at 6 months, and 5 after 12 months. One patient discontinued treatment 1 year after the beginning as no changes in parenteral support or fecal losses were obtained. All others decreased their intravenous requirements by 50%. One patient suffered an episode of cholecystitis, and another one with a pre-existing cardiac disease, developed a cardiac decompensation.

Conclusions: Teduglutide seems to be a safe and effective treatment in the pediatric SBS population with better results than in the pivotal study as well as in the adult population.
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http://dx.doi.org/10.1097/MPG.0000000000002899DOI Listing
December 2020

Real-world study in infants fed with an infant formula with two human milk oligosaccharides.

Nutr Hosp 2020 08;37(4):698-706

Medical & Scientific Affairs, Nutrición Infantil, Nestlé.

Introduction: Introduction: human milk oligosaccharides (HMOs) are an important component of human milk supporting the development of a balanced intestinal microbiota and immune protection in breastfed infants. Randomized controlled trials (RCTs) have demonstrated that infant formulas supplemented with the HMOs 2'-fucosyllactose (2'FL) and lacto-N-neotetraose (LNnT) are safe, well-tolerated, and support normal growth. This Real-World Evidence (RWE) study aimed to evaluate growth and tolerance in infants consuming a formula supplemented with 1 g/L of 2'FL and 0.5 g/L of LNnT, and included a mixed-feeding group never studied before in RCTs. Participants and methods: this open-label, prospective study was conducted at six centers in Spain, and included healthy, exclusively breastfed infants (BF group), an exclusively formula-fed group (FF) who received a milk-based formula with 2' FL and LNnT, and a group mixed fed with both formula and human milk (MF), for 8 weeks. Co-primary outcomes were growth (anthropometry) and gastrointestinal tolerance (Infant Gastrointestinal Symptom Questionnaire, IGSQ). Secondary outcomes included formula satisfaction and adverse events (AEs). Results: 159 infants completed the study (66 FF, 48 MF, and 45 BF). Mean z-scores for growth were similar between all groups and within ± 0.5 of WHO medians at week 8. Composite IGSQ scores demonstrated low GI distress in all groups, with no significant group differences at baseline, week 4, or week 8. Incidence of AEs was low overall, and comparable across groups. Conclusions: in this RWE study examining a HMO-supplemented infant formula, growth and tolerance outcomes were similar to RCT findings, supporting the effectiveness of this early feeding option.
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http://dx.doi.org/10.20960/nh.03084DOI Listing
August 2020

[The space of editors: analysis of an ending year, a beginning decade].

Nutr Hosp 2020 Feb;37(1):1-3

Hospital Regional Universitario de Málaga.

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http://dx.doi.org/10.20960/nh.02995DOI Listing
February 2020

[Position paper on vegetarian diets in infants and children. Committee on Nutrition and Breastfeeding of the Spanish Paediatric Association].

An Pediatr (Engl Ed) 2020 May 19;92(5):306.e1-306.e6. Epub 2019 Dec 19.

In the last few years, there are an increased number of families following a vegetarian diet, including their children. In order to guarantee child heath, paediatricians need to know the characteristics of this diet and the main foods that are used. There are few data on the medium and long-term health outcomes when removing all animal foods from the child's diet, especially at younger ages. Nevertheless, new tools have recently become available to facilitate following a vegetarian diet and decreasing the risk of deficiencies. In this document, the group of foods commonly used in vegetarian diets are reviewed, as well as recommendations for each age group. It also mentions the need to use B supplements at all ages, as well as other nutrients (iodine, iron, vitaminD, poly-unsaturated fatty acid n-3), when required. A vegetarian or a vegan diet, as in any other kind of diet, needs to be carefully designed. After reviewing current evidence, even though following a vegetarian diet at any age does not necessarily mean it is unsafe, it is advisable for infant and young children to follow an omnivorous diet or, at least, an ovo-lacto-vegetarian diet.
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http://dx.doi.org/10.1016/j.anpedi.2019.10.013DOI Listing
May 2020

Ethical issues about the paradigm shift in the treatment of children with trisomy 18.

Eur J Pediatr 2020 Mar 9;179(3):493-497. Epub 2019 Dec 9.

Department of Pediatrics, Clínica Universidad de Navarra, Madrid, Spain.

Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest medical decisions in newborns with trisomy 18 was done. Two main subjects were examined: (1) the chances of survival and (2) the perception of quality of life. Trisomy 18 is no longer considered a disease incompatible with life, and the discussion has shifted towards the type of treatment that is appropriate to initiate at birth. There are two medical attitudes towards these children: either palliative care or life-prolonging interventions. With medical intervention, the survival is as high as 23% at 5 years of age. Regarding the quality of life, all decision-makers emphasize the possibility of taking the child home. The physicians' perception is more pessimistic than that of the parents. Only a few children benefit from medical interventions.Conclusion: There is a rethinking of treatment behavior in children with trisomy 18. The possible quality of life achieved should be further investigated. It seems inappropriate to simply dismiss medical interventions.What is Known• Until recently, trisomy 18 was considered a disease incompatible with life. The most common behavior was abortion and denial of treatment.What is New• It is no longer considered a lethal disease. The type of medical intervention that is appropriate to perform is now being discussed. Selected children benefit from an interventionist approach.
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http://dx.doi.org/10.1007/s00431-019-03531-4DOI Listing
March 2020

[Screen-time: a new stakeholder in children and adolescent health].

Nutr Hosp 2019 Dec;36(6):1235-1236

Centro de Salud María Montessori.

Introduction:
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http://dx.doi.org/10.20960/nh.02932DOI Listing
December 2019

Social and health care needs in patients with hereditary fructose intolerance in Spain.

Endocrinol Diabetes Nutr (Engl Ed) 2020 Apr 7;67(4):253-262. Epub 2019 Aug 7.

Facultad de Farmacia, Universidad Complutense de Madrid, Madrid, España.

Introduction: Hereditary fructose intolerance is a metabolic disease due to an aldolase B deficiency. Our objective was to ascertain the social and health care needs of those with this deficiency.

Material And Methods: A prospective, observational study was performed. A survey of social and health care needs was conducted to hereditary fructose intolerance patients living in Spain.

Results: Most patients had been diagnosed, mainly by genetic analysis in children and based on fructose overload in adults. Population surveyed had no sequelae (72.34%) or disability (64%), and 83.33% of children and 52.38% of adults were taking drugs (p <.05) (2.06 drugs on average). Most patients had attended medical visits in the past two years, mainly in metabolic disease units (42.5%) and/or nutrition units (42.5%), but less than a half attended reference centers (mostly children [p <0.05]). Although 48% were satisfied with health care, they felt discriminated in recreational activities, school, health and/or daily activities. The most reliable sources of information were the specialized care physician (69.39%) and patients' association (59.18%). Fifty-five percent reported no problem in any quality of life dimension, although some had problems in daily activities, pain, and anxiety.

Conclusions: Although hereditary fructose intolerance is less disabling than other rare diseases, it is important to know the needs of those who suffer from it. Although time to diagnosis has shortened, the poorer health care and satisfaction with it perceived in adults makes it necessary to emphasize the needs of this population, and the critical need of training and information of health care professionals.
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http://dx.doi.org/10.1016/j.endinu.2019.06.005DOI Listing
April 2020

[The first 1000 days: an opportunity to reduce the burden of noncommunicable diseases].

Nutr Hosp 2019 Mar;36(1):218-232

CIBER de Fisiopatología de la Obesidad y la Nutrición (CIBEROBN). Instituto de Salud Carlos III.

Introduction: Growth and development are determined by genetic and environmental factors since the very early embryonic life. Long-term health risks, as obesity and other non-communicable diseases (NCD), could be programmed since these early stages. Early life, characterized by plasticity, is the ideal time to intervene and to prevent the risk of suffering a NCD (window of opportunity). Optimal nutrition during the first 1,000 days, since conception to the end of the second year of life, has a determinant role for long-term health. Pregnancy, infancy and toddler periods have specific nutritional requirements. Intestinal microbiota enhances maturation and functioning of the immune system. The interactions between host and intestinal microbiota are potential factors influencing early programming of the intestinal function. Alterations in intestinal colonization are associated to a higher risk of allergic diseases in childhood. Scientific evidence supports the fact that the first 1,000 days are crucial to achieve a better long-term health and represents a strategic period to intervene under the perspective of prevention and public health.
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http://dx.doi.org/10.20960/nh.02453DOI Listing
March 2019

The room for Editors, a new era. Welcome, 2019.

Nutr Hosp 2019 Jan;36:1-2

Hospital Regional Universitario De Málaga.

Introduction:
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http://dx.doi.org/10.20960/nh.02495DOI Listing
January 2019

Acquired and Innate Immunity Impairment and Severe Disseminated Infection in a Patient With a NF-κB1 Deficiency.

Front Immunol 2018 29;9:3148. Epub 2019 Jan 29.

Research Institute Hospital 12 Octubre (I+12), Madrid, Spain.

NF-κB1 is a master regulator of both acquired and innate responses. loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated infection expands the clinical and immunological phenotype of NF-κB1 deficiency. Functional and molecular characterization of a patient with a novel phenotype of NF-κB1 deficiency. Circulating T, B, dendritic cell subsets and innate or unconventional T-cells were quantified. The cytokine production in stimulated whole blood samples was assessed and molecular characterization by next generation sequencing and gene expression assays were also performed. We report a patient presenting with features of combined immunodeficiency (CID) and disseminated infection. Sequencing of genomic DNA identified a novel synonymous mutation (c.705G > A) in gene which resulted in exon 8 skipping and haploinsufficiency of the NF-κB1 subunit p50. The susceptibility to atypical mycobacterial infection has not been previously reported and may be the result of a dendritic cell deficiency. A selective deficiency of circulating follicular helper T (cTFH) cells responsible for mediating the differentiation of naive B cells into memory and plasma cells was also present in the patient. It could affect the maturation of innate or unconventional T cells where NF-κB1 could also be involved. These findings showed that the role of NF-κB1 in humans could be critical for the development of acquired and innate immunity and further highlights the role of human T cells in anti-mycobacterial immunity.
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http://dx.doi.org/10.3389/fimmu.2018.03148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362422PMC
October 2019

[Twenty-six years of NADYA-SENPE register. A new step].

Nutr Hosp 2018 12 3;35(6):1255-1256. Epub 2018 Dec 3.

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http://dx.doi.org/10.20960/nh.2401DOI Listing
December 2018

Guía de recomendaciones sobre las dietas vegetarianas en niños.

An Pediatr (Engl Ed) 2018 10 30. Epub 2018 Oct 30.

Clínica Universidad de Navarra, Madrid, España. Electronic address:

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http://dx.doi.org/10.1016/j.anpedi.2018.09.012DOI Listing
October 2018

Study on the nutritional status and feeding habits in school-children in Madrid City (Spain) during the economic crisis.

Nutr Hosp 2018 Oct 5;35(5):1054-1058. Epub 2018 Oct 5.

Clínica Universidad de Navarra.

Introduction: the recent economic and financial crisis has affected most Western countries, especially families of low socioeconomic classes. We speculate that worsening of socioeconomic condition associated with the crisis would increase obesity, mainly in disadvantaged families.

Material And Methods: cross-sectional study of the 290,111 children aged three to 12 years old attending public school during the term 2014-2015 in Madrid City, by means of a stratified weighted sample randomly chosen, taking into account age (grade), city district and schools. The questionnaire included weight and height (auto-reported), dietary report (weekly frequency of intake), as well as socioeconomic variables.

Results: 1,208 questionnaires were evaluated from 64 classes. Half of participants were boys; 42% were younger than five years old, 35% werebetween six and eight years old, and 23% older than eight. Undernutrition was present in 5.0%, and excess of weight (overweight + obesity) in 36.7%. Undernutrition was higher in children under the age of six (9.1%). No relationship was found between undernutrition and the characteristics of the families but was slightly higher in families where both parents were unemployed. Excess of weight was higher in children of non-Spaniard parents (44% vs 32%, p < 0.0001), as well as in those families with economic problems (41% vs 31%, p = 0.0005). Only for meat, grains and dairy, the weekly intake was close to the recommendations.

Conclusions: children from lower income households were at a higher risk of being overweight compared with their peers. Participation in a school-based food aid program may reduce food insecurity for children and their families.
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http://dx.doi.org/10.20960/nh.1824DOI Listing
October 2018

[A call for attention].

An Pediatr (Engl Ed) 2019 Jan 18;90(1):65. Epub 2018 Jul 18.

Clínica Universidad de Navarra, Madrid, España. Electronic address:

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http://dx.doi.org/10.1016/j.anpedi.2018.06.011DOI Listing
January 2019

Ibero⁻American Consensus on Low- and No-Calorie Sweeteners: Safety, Nutritional Aspects and Benefits in Food and Beverages.

Nutrients 2018 Jun 25;10(7). Epub 2018 Jun 25.

Peruvian Nutrition Society-Sociedad Peruana de Nutrición (SOPENUT), Miraflores 15074, Peru.

International scientific experts in food, nutrition, dietetics, endocrinology, physical activity, paediatrics, nursing, toxicology and public health met in Lisbon on 2⁻4 July 2017 to develop a Consensus on the use of low- and no-calorie sweeteners (LNCS) as substitutes for sugars and other caloric sweeteners. LNCS are food additives that are broadly used as sugar substitutes to sweeten foods and beverages with the addition of fewer or no calories. They are also used in medicines, health-care products, such as toothpaste, and food supplements. The goal of this Consensus was to provide a useful, evidence-based, point of reference to assist in efforts to reduce free sugars consumption in line with current international public health recommendations. Participating experts in the Lisbon Consensus analysed and evaluated the evidence in relation to the role of LNCS in food safety, their regulation and the nutritional and dietary aspects of their use in foods and beverages. The conclusions of this Consensus were: (1) LNCS are some of the most extensively evaluated dietary constituents, and their safety has been reviewed and confirmed by regulatory bodies globally including the World Health Organisation, the US Food and Drug Administration and the European Food Safety Authority; (2) Consumer education, which is based on the most robust scientific evidence and regulatory processes, on the use of products containing LNCS should be strengthened in a comprehensive and objective way; (3) The use of LNCS in weight reduction programmes that involve replacing caloric sweeteners with LNCS in the context of structured diet plans may favour sustainable weight reduction. Furthermore, their use in diabetes management programmes may contribute to a better glycaemic control in patients, albeit with modest results. LNCS also provide dental health benefits when used in place of free sugars; (4) It is proposed that foods and beverages with LNCS could be included in dietary guidelines as alternative options to products sweetened with free sugars; (5) Continued education of health professionals is required, since they are a key source of information on issues related to food and health for both the general population and patients. With this in mind, the publication of position statements and consensus documents in the academic literature are extremely desirable.
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http://dx.doi.org/10.3390/nu10070818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073242PMC
June 2018

[Editor's corner: Nutrición Hospitalaria2017].

Nutr Hosp 2018 Jan 25;35(1):1-3. Epub 2018 Jan 25.

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http://dx.doi.org/10.20960/nh.1756DOI Listing
January 2018

[Home and Ambulatory Artificial Nutrition (NADYA) Group Report - Home parenteral nutrition in Spain, 2016].

Nutr Hosp 2017 Nov 24;34(5):1497-1501. Epub 2017 Nov 24.

1. Hospital General Universitario de Alicante, Alicante, España. 2. Fundación para el Fomento de la Investigación Sanitaria y Biomédica (ISABIAL-FISABIO), Alicante, España..

Objective: To communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2016.

Material And Methods: Descriptive analysis of the data collected from adult and pediatric patients with HPN in the NADYA-SENPE group registry from January 1st, 2016 to December 31st, 2016.

Results: There were 286 patients from 42 Spanish hospitals (54.2% women), 34 children and 252 adults, with 294 episodes, which represent a prevalence rate of 6.16 patients / million inhabitants / year 2016. The most frequent diagnosis in adults was "palliative cancer" (25.8%), followed by "others". In children it was "motility alterations" with 6 cases (17.6%), Hirschsprung's disease and necrotising enterocolitis, both with 5 children (14.7%). The first indication was short bowel syndrome in both children (64.7%) and adults (37.3%), followed by intestinal obstruction in 28.6% adults and 14.7% in children. The most frequently used type of catheter was tunnelled in both children (70.6%) and adults (37.9%). The most frequent complication in adults was infection related to the catheter, which presented a rate of 0.48 infections / 1,000 days of NPD. During this period, 71 episodes ended in adults and the main cause was death (57.7%) followed by resuming the oral route (31%).

Conclusions: There is a progressive increase of centers and professional collaborators in the registry who report patients receiving parenteral nutrition at home. The main indications of HPN and the motive for ending have remained stable.
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http://dx.doi.org/10.20960/nh.1686DOI Listing
November 2017

[Monitoring pediatric parenteral nutrition].

Nutr Hosp 2017 Jun 26;34(Suppl 3):53-54. Epub 2017 Jun 26.

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http://dx.doi.org/10.20960/nh.1382DOI Listing
June 2017

A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant .

Pediatrics 2017 08;140(2)

Divisions of Nutrition.

Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the () gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old. To the best of our knowledge, only 9 cases of recessively inherited mutations have been reported in the literature to date. Our patient presents with several remarkable differences compared with previously published cases. This report can contribute by deepening our knowledge on new aspects of such an extremely rare disease.
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http://dx.doi.org/10.1542/peds.2016-2210DOI Listing
August 2017