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1.
Atherosclerosis ; : 117516, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38523000

RESUMO

AIM: We aimed to describe clinical and genetic characteristics, lipid-lowering treatment and atherosclerotic cardiovascular disease (ASCVD) outcomes over a long-term follow-up in homozygous familial hypercholesterolemia (HoFH). METHODS: SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is a long-term study in molecularly diagnosed FH. Data analyzed in HoFH were prospectively obtained from 2004 until 2022. ASCVD events, lipid profile and lipid-lowering treatment were determined. RESULTS: Thirty-nine HoFH patients were analyzed. The mean age was 42 ± 20 years and nineteen (49%) were women. Median follow-up was 11 years (IQR 6,18). Median age at genetic diagnosis was 24 years (IQR 8,42). At enrolment, 33% had ASCVD and 18% had aortic valve disease. Patients with new ASCVD events and aortic valve disease at follow-up were six (15%), and one (3%), respectively. Median untreated LDL-C levels were 555 mg/dL (IQ 413,800), and median LDL-C levels at last follow-up was 122 mg/dL (IQR 91,172). Most patients (92%) were on high intensity statins and ezetimibe, 28% with PCSK9i, 26% with lomitapide, and 23% with lipoprotein-apheresis. Fourteen patients (36%) attained an LDL-C level below 100 mg/dL, and 10% attained an LDL-C below 70 mg/dL in secondary prevention. Patients with null/null variants were youngers, had higher untreated LDL-C and had the first ASCVD event earlier. Free-event survival is longer in patients with defective variant compared with those patients with at least one null variant (p=0.02). CONCLUSIONS: HoFH is a severe life threating disease with a high genetic and phenotypic variability. The improvement in lipid-lowering treatment and LDL-C levels have contributed to reduce ASCVD events.

2.
Int J Mol Sci ; 25(2)2024 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-38256076

RESUMO

The imbalance of the gut microbiota (GM) is known as dysbiosis and is associated with disorders such as obesity. The increasing prevalence of microorganisms harboring antibiotic resistance genes (ARG) in the GM has been reported as a potential risk for spreading multi-drug-resistant pathogens. The objective of this work was the evaluation, in a fecal culture model, of different probiotics for their ability to modulate GM composition and ARG levels on two population groups, extremely obese (OB) and normal-weight (NW) subjects. Clear differences in the basal microbiota composition were observed between NW and OB donors. The microbial profile assessed by metataxonomics revealed the broader impact of probiotics on the OB microbiota composition. Also, supplementation with probiotics promoted significant reductions in the absolute levels of tetM and tetO genes. Regarding the blaTEM gene, a minor but significant decrease in both donor groups was detected after probiotic addition. A negative association between the abundance of Bifidobacteriaceae and the tetM gene was observed. Our results show the ability of some of the tested strains to modulate GM. Moreover, the results suggest the potential application of probiotics for reducing the levels of ARG, which constitutes an interesting target for the future development of probiotics.


Assuntos
Actinobacteria , Microbioma Gastrointestinal , Microbiota , Probióticos , Humanos , Microbiota/genética , Microbioma Gastrointestinal/genética , Antibacterianos/farmacologia , Resistência Microbiana a Medicamentos/genética , Obesidade
3.
J Clin Med ; 12(3)2023 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-36769678

RESUMO

Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it still is severely underdiagnosed. Initiating lipid-lowering therapy (LLT) in FH patients early in life can substantially reduce their ASCVD risk. As a result, identifying FH is of the utmost importance. The increasing availability of genetic testing may be useful in this regard. We aimed to evaluate the genetic profiles, clinical characteristics, and gender differences between the first consecutive patients referred for genetic testing with FH clinical suspicion in our institution (a Spanish cohort). Clinical information was reviewed, and all participants were sequenced for the main known genes related to FH: LDLR, APOB, PCSK9 (heterozygous FH), LDLRAP1 (autosomal recessive FH), and two other genes related to hyperlipidaemia (APOE and LIPA). The genetic yield was 32%. Their highest recorded LDLc levels were 294 ± 65 SD mg. However, most patients (79%) were under > 1 LLT medication, and their last mean LDLc levels were 135 ± 51 SD. LDLR c.2389+4A>G was one of the most frequent pathogenic/likely pathogenic variants and its carriers had significantly worse LDLc highest recorded levels (348 ± 61 SD vs. 282 ± 60 SD mg/dL, p = 0.002). Moreover, we identified an homozygous carrier of the pathogenic variant LDLRAP1 c.207delC (autosomal recessive FH). Both clinical and genetic hypercholesterolemia diagnosis was significantly established earlier in men than in women (25 years old ± 15 SD vs. 35 years old ± 19 SD, p = 0.02; and 43 ± 17 SD vs. 54 ± 19 SD, p = 0.02, respectively). Other important CV risk factors were found in 44% of the cohort. The prevalence of family history of premature ASCVD was high, whereas personal history was exceptional. Our finding reaffirms the importance of early detection of FH to initiate primary prevention strategies from a young age. Genetic testing can be very useful. As it enables familial cascade genetic testing, early prevention strategies can be extended to all available relatives at concealed high CV risk.

4.
Nutr Hosp ; 38(6): 1304-1309, 2021 Dec 09.
Artigo em Espanhol | MEDLINE | ID: mdl-34670394

RESUMO

INTRODUCTION: Aim: to communicate the home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2019. Material and methods: a descriptive analysis of the data collected from adult and pediatric patients with HPN in the NADYA-SENPE group registry from January 1 to December 31, 2019. Results: a total of 283 patients (51.9 % women), 31 children, and 252 adults from 47 Spanish hospitals were registered, which represents a prevalence rate of 6.01 patients per million inhabitants for year 2019. The most frequent diagnosis in adults was "palliative oncological" and "others" (21.0 %). In children, it was Hirschsprung's disease together with necrotizing enterocolitis, alterations in intestinal motility, and chronic intestinal pseudo-obstruction, with 4 cases each (12.9 %). The first reason for the indication was short-bowel syndrome in both children (51.6 %) and adults (37.3 %). The most used type of catheter was tunnelled both in children (75.9 %) and in adults (40.8 %). Sixty-eight episodes ended, all in adults, and the most frequent cause was death (54.4 %); 38.2 % were switched to oral. Conclusions: the number of collaborating centers and professionals in the NADYA registry is increasing. The main indications and reasons for HPN termination remain stable.


INTRODUCCIÓN: Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2019. Material y métodos: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE desde el 1 de enero al 31 de diciembre de 2019. Resultados: se registraron 283 pacientes (51,9 %, mujeres), 31 niños y 252 adultos procedentes de 47 hospitales españoles, lo que representa una tasa de prevalencia de 6,01 pacientes/millón de habitantes/año 2019. El diagnóstico más frecuente en los adultos fue "oncológico paliativo" y "otros" (21,0 %). En los niños fue la enfermedad de Hirschsprung junto a la enterocolitis necrotizante, las alteraciones de la motilidad intestinal y la pseudoobstrucción intestinal crónica, con 4 casos cada uno (12,9 %). El primer motivo de indicación fue el síndrome del intestino corto tanto en los niños (51,6 %) como en los adultos (37,3 %). El tipo de catéter más utilizado fue el tunelizado tanto en los niños (75,9 %) como en los adultos (40,8 %). Finalizaron 68 episodios, todos en adultos: la causa más frecuente fue el fallecimiento (54,4 %). Pasaron a la vía oral el 38,2 %. Conclusiones: el número de centros y profesionales colaboradores con el registro NADYA va incrementándose. Se mantienen estables las principales indicaciones y los motivos de finalización de la NPD.


Assuntos
Serviços de Assistência Domiciliar/normas , Nutrição Parenteral/métodos , Adolescente , Adulto , Criança , Feminino , Doença de Hirschsprung/dietoterapia , Serviços de Assistência Domiciliar/tendências , Humanos , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Sistema de Registros/estatística & dados numéricos , Síndrome do Intestino Curto/dietoterapia , Espanha/epidemiologia
5.
Front Microbiol ; 12: 630572, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33633711

RESUMO

The intestinal microbiota plays important roles in the maintenance of health. Strategies aiming at its modulation, such as probiotics, have received a deal of attention. Several strains have been studied in different in vitro models; however, the correlation of results obtained with the in vivo data has been limited. This questions the usefulness of such in vitro selection models, traditionally relying on over-simplified tests, not considering the influence of the accompanying microbiota or focusing on microbiota composition without considering functional traits. Here we assess the potential of six Bifidobacterium, Lactobacillus and Lacticaseibacillus strains in an in vitro model to determine their impact on the microbiota not just in terms of composition but also of functionality. Moreover, we compared the responses obtained in two different population groups: normal-weight and severely obese subjects. Fecal cultures were conducted to evaluate the impact of the strains on specific intestinal microbial groups, on the production of short-chain fatty acids, and on two functional responses: the production of gas and the interaction with human intestinal epithelial cells. The response to the different probiotics differed between both human groups. The addition of the probiotic strains did not induce major changes on the microbiota composition, with significant increases detected almost exclusively for the species added. Higher levels of gas production were observed in cultures from normal-weight subjects than in the obese population, with some strains being able to significantly reduce gas production in the latter group. Moreover, in obese subjects all the Bifidobacterium strains tested and Lacticaseibacillus rhamnosus GG were able to modify the response of the intestinal cells, restoring values similar to those obtained with the microbiotas of normal-weight subjects. Our results underline the need for the screening and selection of probiotics in a target-population specific manner by using appropriate in vitro models before enrolling in clinical intervention trials.

6.
Mol Nutr Food Res ; 65(5): e2000030, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32966685

RESUMO

SCOPE: A limited number of human studies have characterized fecal microbiota and metabolome in extreme obesity and after diet-induced weight loss. METHODS AND RESULTS: Fecal samples from normal-weight and extremely obese adults and from obese participants before and after moderate diet-induced weight loss are evaluated for their interaction with the intestinal adenocarcinoma cell line HT29 using an impedance-based in vitro model, which reveals variations in the interaction between the gut microbiota and host linked to obesity status. Microbiota composition, short chain fatty acids, and other intestinal metabolites are further analyzed to assess the interplay among diet, gut microbiota, and host in extreme obesity. Microbiota profiles are distinct between normal-weight and obese participants and are accompanied by fecal signatures in the metabolism of biliary compounds and catecholamines. Moderate diet-induced weight loss promotes shifts in the gut microbiota, and the primary fecal metabolomics features are associated with diet and the gut-liver and gut-brain axes. CONCLUSIONS: Analyses of the fecal microbiota and metabolome enable assessment of the impact of diet on gut microbiota composition and activity, supporting the potential use of certain fecal metabolites or members of the gut microbiota as biomarkers for the efficacy of weight loss in extreme obesity.


Assuntos
Microbioma Gastrointestinal/fisiologia , Metaboloma , Obesidade Mórbida/dietoterapia , Obesidade Mórbida/microbiologia , Adulto , Ácidos Graxos Voláteis/metabolismo , Fezes/microbiologia , Feminino , Microbioma Gastrointestinal/genética , Células HT29 , Humanos , Masculino , Pessoa de Meia-Idade
7.
Nutr. hosp ; 37(6): 1281-1284, nov.-dic. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-198318

RESUMO

INTRODUCCIÓN: la nutrición parenteral (NP) es una modalidad de soporte nutricional con posibles complicaciones, en parte asociadas al catéter venoso central (CVC). El quilotórax consiste en el derrame de líquido linfático de origen intestinal en el espacio pleural. CASO CLÍNICO: varón de 57 años ingresado para colecistectomía. Presenta un postoperatorio complicado que requiere reposo digestivo y NP. Posteriormente presenta disnea y dolor torácico con derrame pleural bilateral y pericárdico. Inicialmente se interpretó como un quilotórax, por su aspecto lechoso y su contenido en triglicéridos. La TC confirmó la malposición del CVC con salida de NP a nivel del tronco venoso innominado. Fue intervenido quirúrgicamente, realizándose un lavado del mediastino anterior y la reparación de la perforación. La evolución posterior fue favorable. DISCUSIÓN: la extravasación de la NP al espacio pleural es una complicación infrecuente pero posible de la administración de NP por vía central. Por tanto, debe tenerse en cuenta en el diagnóstico diferencial


INTRODUCTION: parenteral nutrition (PN) is commonly used as a nutritional support option. It may cause complications, partly due to a central venous access. Chylothorax is an accumulation of lymphatic fluid in the pleural space. CASE REPORT: a 57-year-old man was admitted for cholecystectomy. A complicated postoperative period required PN. Cardiorespiratory symptoms started while receiving PN, and a bilateral pleural and pericardial effusion was identified. It was initially interpreted as chylothorax due to its milky appearance and high triglyceride content. A CT scan confirmed a malposition of the CVC with PN leakage at the level of the innominate venous trunk. It was surgically repaired. DISCUSSION: parenteral nutrition leakage is an unusual complication of PN. It should be included in the differential diagnosis of pleural effusion


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Nutrição Parenteral Total/efeitos adversos , Quilotórax/diagnóstico por imagem , Derrame Pleural/diagnóstico por imagem , Esternotomia/métodos , Quilotórax/complicações , Complicações Pós-Operatórias , Dispneia/complicações , Dor no Peito/etiologia , Hematemese/complicações , Diagnóstico Diferencial , Radiografia Torácica
8.
Nutr Hosp ; 37(6): 1281-1284, 2020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33241940

RESUMO

INTRODUCTION: Introduction: parenteral nutrition (PN) is commonly used as a nutritional support option. It may cause complications, partly due to a central venous access. Chylothorax is an accumulation of lymphatic fluid in the pleural space. Case report: a 57-year-old man was admitted for cholecystectomy. A complicated postoperative period required PN. Cardiorespiratory symptoms started while receiving PN, and a bilateral pleural and pericardial effusion was identified. It was initially interpreted as chylothorax due to its milky appearance and high triglyceride content. A CT scan confirmed a malposition of the CVC with PN leakage at the level of the innominate venous trunk. It was surgically repaired. Discussion: PN leakage is an unusual complication of PN. It should be included in the differential diagnosis of pleural effusion.


INTRODUCCIÓN: Introducción: la nutrición parenteral (NP) es una modalidad de soporte nutricional con posibles complicaciones, en parte asociadas al catéter venoso central (CVC). El quilotórax consiste en el derrame de líquido linfático de origen intestinal en el espacio pleural. Caso clínico: varón de 57 años ingresado para colecistectomía. Presenta un postoperatorio complicado que requiere reposo digestivo y NP. Posteriormente presenta disnea y dolor torácico con derrame pleural bilateral y pericárdico. Inicialmente se interpretó como un quilotórax, por su aspecto lechoso y su contenido en triglicéridos. La TC confirmó la malposición del CVC con salida de NP a nivel del tronco venoso innominado. Fue intervenido quirúrgicamente, realizándose un lavado del mediastino anterior y la reparación de la perforación. La evolución posterior fue favorable. Discusión: la extravasación de la NP al espacio pleural es una complicación infrecuente pero posible de la administración de NP por vía central. Por tanto, debe tenerse en cuenta en el diagnóstico diferencial.


Assuntos
Extravasamento de Materiais Terapêuticos e Diagnósticos/etiologia , Nutrição Parenteral/efeitos adversos , Cavidade Pleural , Complicações Pós-Operatórias/etiologia , Quilotórax/diagnóstico , Diagnóstico Diferencial , Extravasamento de Materiais Terapêuticos e Diagnósticos/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Derrame Pleural/diagnóstico , Complicações Pós-Operatórias/diagnóstico
9.
Rev. esp. cardiol. (Ed. impr.) ; 73(10): 828-834, oct. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-199627

RESUMO

INTRODUCCIÓN Y OBJETIVOS: El estudio SAFEHEART se diseñó para analizar la situación y mejorar el conocimiento de la hipercolesterolemia familiar heterocigota (HFH) en España. Nuestro objetivo es determinar la tasa de incidencia de eventos cardiovasculares, el riesgo estimado de sufrir un evento y su modificación, el empleo de tratamiento hipolipemiante y la consecución de objetivos de colesterol unido a lipoproteínas de baja densidad en pacientes con HFH. MÉTODOS: El SAFEHEART es un estudio prospectivo de cohorte, abierto, multicéntrico, de escala nacional, con seguimiento protocolizado a largo plazo en una población de HFH caracterizada molecularmente. Se analizó a los pacientes mayores de 18 años con seguimiento completo. RESULTADOS: El análisis en este estudio se hizo con 2.648 pacientes con HFH. La mediana de seguimiento fue de 6,6 (4,8-9,7) años. La tasa de incidencia general de eventos cardiovasculares fue de 1,3 eventos/100 pacientes-año. El riesgo estimado de sufrir un evento cardiovascular a 10 años se redujo en el seguimiento, y pasó del 1,6 al 1,3% (p <0,001). En el último seguimiento, el 20,6 y el 22,2% de los pacientes en prevención primaria y secundaria consiguieron un colesterol unido a lipoproteínas de baja densidad <100 y <70 mg/dl respectivamente. CONCLUSIONES: En este estudio se muestra la tasa de incidencia de eventos cardiovasculares, el riesgo estimado de sufrir un evento cardiovascular en la mayor población de pacientes con HF en España, así como su modificación, la consecución de objetivos en colesterol unido a lipoproteínas de baja densidad y su tratamiento. Aunque el riesgo cardiovascular de la HFH es elevado, un adecuado tratamiento reduce la probabilidad de sufrir un evento


INTRODUCTION AND OBJECTIVES: The SAFEHEART study was designed to analyze the situation of familial heterozygous hypercholesterolemia (FHH) and improve knowledge of this disease in Spain. Our objective was to determine the incidence rate of cardiovascular events, the estimated risk of developing an event and its modification, the use of lipid-lowering treatment, and the achievement of low-density lipoprotein cholesterol targets in patients with FHH. METHODS: SAFEHEART is a prospective, open, multicenter, nationwide cohort study, with long-term protocol-based follow-up in a population of individuals with molecularly-characterized FHH. We analyzed patients older than 18 years with complete follow-up. RESULTS: We included 2648 patients with FHH. The median follow-up was 6.6 (4.8-9.7) years. The overall incidence rate of cardiovascular events was 1.3 events/100 patient-years. After the follow-up, the 10-year estimated risk of developing a cardiovascular event was reduced from 1.6% to 1.3% (P <.001). In the last follow-up, 20.6% and 22.2% of the patients in primary and secondary prevention achieved low-density lipoprotein cholesterol values <100mg/dL and <70mg/dL, respectively. CONCLUSIONS: This study was performed in the largest population of patients with FHH in Spain. We identified the incidence rate of cardiovascular events, the estimated risk of developing a cardiovascular event and its modification, the achievement of low-density lipoprotein cholesterol targets, and the therapeutic management in this population. Although the cardiovascular risk of FHH is high, appropriate treatment reduces the likelihood of an event


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Hiperlipoproteinemia Tipo II/complicações , Doenças Cardiovasculares/epidemiologia , Anticolesterolemiantes/uso terapêutico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Fatores de Risco , Registros de Doenças/estatística & dados numéricos , Estudos Prospectivos
10.
Nutr. hosp ; 37(2): 403-407, mar.-abr. 2020. graf
Artigo em Espanhol | IBECS | ID: ibc-190606

RESUMO

OBJETIVO: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2018. MATERIAL Y MÉTODOS: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE del 1 de enero al 31 de diciembre de 2018. RESULTADOS: se registraron 278 pacientes (54,7 % mujeres), 23 niños y 255 adultos, procedentes de 45 hospitales españoles, lo que representa una tasa de prevalencia de 5,95 pacientes/millón de habitantes/año 2018. El diagnóstico más frecuente en adultos fue "oncológico paliativo" (22,0 %), seguido de "otros". En niños fue la enfermedad de Hirschsprung junto con la enterocolitis necrotizante, con cuatro casos (17,4 %). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (60,9 %) como en adultos (35,7 %). El tipo de catéter más utilizado fue el tunelizado tanto en niños (81,0 %) como en adultos (41,1 %). Finalizaron 75 episodios, la causa más frecuente fue el fallecimiento (52,0 %) y el paso a vía oral (33,3 %). CONCLUSIONES: el número de centros y profesionales colaboradores en el registro de pacientes que reciben NPD se mantiene estable, así como las principales indicaciones y los motivos de finalización de la NPD


AIM: to communicate home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2018. 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, 2018 to December 31st, 2018. RESULTS: there were 278 patients from 45 Spanish hospitals (54.7 % women), 23 children and 255 adults, which represent a prevalence rate of 5.95 patients/million inhabitants/year 2018. The most frequent diagnosis in adults was "palliative cancer" (22.0 %), followed by "others". In children it was Hirschsprung's disease together with necrotizing enterocolitis, with four cases (17.4 %). The first indication was short bowel syndrome in both children (60.9 %) and adults (35.7 %). The most frequently used type of catheter was tunneled in both children (81.0 %) and adults (41.1 %). Ending 75 episodes, the most frequent cause was death (52.0 %) and change to oral feeding (33.3 %). CONCLUSIONS: the number of centers and collaborating professionals in the registry of patients receiving HPN remains stable, as well as the main indications and reasons for termination of HPN


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Nutrição Parenteral no Domicílio/métodos , Doença de Hirschsprung/epidemiologia , Enterocolite Necrosante/epidemiologia , Neoplasias/epidemiologia , Nutrição Parenteral no Domicílio/normas , Apoio Nutricional , Sociedades Médicas/normas
11.
Rev Esp Cardiol (Engl Ed) ; 73(10): 828-834, 2020 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32201274

RESUMO

INTRODUCTION AND OBJECTIVES: The SAFEHEART study was designed to analyze the situation of familial heterozygous hypercholesterolemia (FHH) and improve knowledge of this disease in Spain. Our objective was to determine the incidence rate of cardiovascular events, the estimated risk of developing an event and its modification, the use of lipid-lowering treatment, and the achievement of low-density lipoprotein cholesterol targets in patients with FHH. METHODS: SAFEHEART is a prospective, open, multicenter, nationwide cohort study, with long-term protocol-based follow-up in a population of individuals with molecularly-characterized FHH. We analyzed patients older than 18 years with complete follow-up. RESULTS: We included 2648 patients with FHH. The median follow-up was 6.6 (4.8-9.7) years. The overall incidence rate of cardiovascular events was 1.3 events/100 patient-years. After the follow-up, the 10-year estimated risk of developing a cardiovascular event was reduced from 1.6% to 1.3% (P <.001). In the last follow-up, 20.6% and 22.2% of the patients in primary and secondary prevention achieved low-density lipoprotein cholesterol values <100mg/dL and <70mg/dL, respectively. CONCLUSIONS: This study was performed in the largest population of patients with FHH in Spain. We identified the incidence rate of cardiovascular events, the estimated risk of developing a cardiovascular event and its modification, the achievement of low-density lipoprotein cholesterol targets, and the therapeutic management in this population. Although the cardiovascular risk of FHH is high, appropriate treatment reduces the likelihood of an event. CLINICAL TRIAL REGISTRATION: http://www.clinicaltrials.gov. Identifier: NCT02693548.


Assuntos
Doenças Cardiovasculares/epidemiologia , Hiperlipoproteinemia Tipo II/epidemiologia , Adulto , Estudos de Coortes , Feminino , Humanos , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Espanha/epidemiologia
12.
Nutr Hosp ; 37(2): 403-407, 2020 Apr 16.
Artigo em Espanhol | MEDLINE | ID: mdl-32124618

RESUMO

INTRODUCTION: Aim: to communicate home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2018 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, 2018 to December 31st, 2018. Results: there were 278 patients from 45 Spanish hospitals (54.7% women), 23 children and 255 adults, which represent a prevalence rate of 5.95 patients/million inhabitants/year 2018. The most frequent diagnosis in adults was "palliative cancer" (22.0%), followed by "others". In children it was Hirschsprung's disease together with necrotizing enterocolitis, with four cases (17.4%). The first indication was short bowel syndrome in both children (60.9%) and adults (35.7%). The most frequently used type of catheter was tunneled in both children (81.0%) and adults (41.1%). Ending 75 episodes, the most frequent cause was death (52.0%) and change to oral feeding (33.3%). Conclusions: the number of centers and collaborating professionals in the registry of patients receiving HPN remains stable, as well as the main indications and reasons for termination of HPN.


INTRODUCCIÓN: Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2018. Material y métodos: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE del 1 de enero al 31 de diciembre de 2018. Resultados: se registraron 278 pacientes (54,7% mujeres), 23 niños y 255 adultos, procedentes de 45 hospitales españoles, lo que representa una tasa de prevalencia de 5,95 pacientes/millón de habitantes/año 2018. El diagnóstico más frecuente en adultos fue "oncológico paliativo" (22,0%), seguido de "otros". En niños fue la enfermedad de Hirschsprung junto con la enterocolitis necrotizante, con cuatro casos (17,4%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (60,9%) como en adultos (35,7%). El tipo de catéter más utilizado fue el tunelizado tanto en niños (81,0%) como en adultos (41,1%). Finalizaron 75 episodios, la causa más frecuente fue el fallecimiento (52,0%) y el paso a vía oral (33,3%). Conclusiones: el número de centros y profesionales colaboradores en el registro de pacientes que reciben NPD se mantiene estable, así como las principales indicaciones y los motivos de finalización de la NPD.


Assuntos
Nutrição Parenteral no Domicílio/estatística & dados numéricos , Adulto , Criança , Enterocolite Necrosante/terapia , Feminino , Doença de Hirschsprung/terapia , Hospitais , Humanos , Masculino , Neoplasias/terapia , Espanha
13.
Int J Mol Sci ; 21(3)2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-32019174

RESUMO

The gut microbiota remains relatively stable during adulthood; however, certain intrinsic and environmental factors can lead to microbiota dysbiosis. Its restoration towards a healthy condition using best-suited prebiotics requires previous development of in vitro models for evaluating their functionality. Herein, we carried out fecal cultures with microbiota from healthy normal-weight and morbid obese adults. Cultures were supplemented with different inulin-type fructans (1-kestose, Actilight, P95, Synergy1 and Inulin) and a galactooligosaccharide. Their impact on the gut microbiota was assessed by monitoring gas production and evaluating changes in the microbiota composition (qPCR and 16S rRNA gene profiling) and metabolic activity (gas chromatography). Additionally, the effect on the bifidobacterial species was assessed (ITS-sequencing). Moreover, the functionality of the microbiota before and after prebiotic-modulation was determined in an in vitro model of interaction with an intestinal cell line. In general, 1-kestose was the compound showing the largest effects. The modulation with prebiotics led to significant increases in the Bacteroides group and Faecalibacterium in obese subjects, whereas in normal-weight individuals, substantial rises in Bifidobacterium and Faecalibacterium were appreciated. Notably, the results obtained showed differences in the responses among the tested compounds but also among the studied human populations, indicating the need for developing population-specific products.


Assuntos
Bactérias/crescimento & desenvolvimento , Fezes/microbiologia , Microbioma Gastrointestinal/fisiologia , Obesidade Mórbida/tratamento farmacológico , Prebióticos/administração & dosagem , Magreza/tratamento farmacológico , Adulto , Bactérias/efeitos dos fármacos , Estudos de Casos e Controles , Feminino , Microbioma Gastrointestinal/efeitos dos fármacos , Humanos , Técnicas In Vitro , Masculino , Obesidade Mórbida/metabolismo , Obesidade Mórbida/patologia , Magreza/metabolismo , Magreza/patologia
14.
Nutr Hosp ; 35(6): 1491-1496, 2018 Dec 03.
Artigo em Espanhol | MEDLINE | ID: mdl-30525864

RESUMO

AIM: to communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2017. 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, 2017 to December 31st, 2017. RESULTS: there were 308 patients from 45 Spanish hospitals (54.5% women), 38 children and 270 adults, with 3,012 episodes, which represent a prevalence rate of 6.61 patients/million inhabitants/year 2017. The most frequent diagnosis in adults was "palliative cancer" (25.6%), followed by "others". In children, it was Hirschsprung's disease with six cases (15.8%). The first indication was short bowel syndrome in both children (55.3%) and adults (33.7%). The most frequently used type of catheter was tunneled in both children (73.4%) and adults (38.2%). Ending 81 episodes, the most frequent cause was death (62.9%) and transition to oral feeding (34.7%). CONCLUSIONS: the progressive increase of collaborating centers and professionals in the registry of patients receiving NPD is maintained. The main indications of HPN and the motive for ending have remained stable.


OBJETIVO: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe. com) del año 2017. MATERIAL Y MÉTODOS: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE desde el 1 de enero al 31 de diciembre de 2017. RESULTADOS: se registraron 308 pacientes (54,5% mujeres), 38 niños y 270 adultos, procedentes de 45 hospitales españoles, en total 312 episodios, lo que representa una tasa de prevalencia de 6,61 pacientes/millón de habitantes/año 2017. El diagnóstico más frecuente en adultos fue "oncológico paliativo" (25,6%), seguido de "otros". En niños fue la enfermedad de Hirschsprung, con seis casos (15,8%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (55,3%) como en adultos (33,7%). El tipo de catéter más utilizado fue el tunelizado tanto en niños (74,3%) como en adultos (38,2%). Finalizaron 81 episodios; la causa más frecuente fue el fallecimiento (62,9%) y que pasaron a vía oral (34,7%). CONCLUSIONES: se mantiene el incremento progresivo de centros y profesionales colaboradores en el registro de pacientes que reciben NPD. Las principales indicaciones de NPD y de motivo de finalización se mantienen estables.


Assuntos
Nutrição Parenteral no Domicílio/estatística & dados numéricos , Adulto , Criança , Feminino , Doença de Hirschsprung/terapia , Humanos , Masculino , Neoplasias/terapia , Cuidados Paliativos/métodos , Cuidados Paliativos/estatística & dados numéricos , Sistema de Registros , Síndrome do Intestino Curto/terapia , Espanha
15.
Nutr. hosp ; 35(6): 1491-1496, nov.-dic. 2018. graf
Artigo em Espanhol | IBECS | ID: ibc-181491

RESUMO

Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2017. Material y métodos: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE desde el 1 de enero al 31 de diciembre de 2017. Resultados: se registraron 308 pacientes (54,5% mujeres), 38 niños y 270 adultos, procedentes de 45 hospitales españoles, en total 312 episodios, lo que representa una tasa de prevalencia de 6,61 pacientes/millón de habitantes/año 2017. El diagnóstico más frecuente en adultos fue "oncológico paliativo" (25,6%), seguido de "otros". En niños fue la enfermedad de Hirschsprung, con seis casos (15,8%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (55,3%) como en adultos (33,7%). El tipo de catéter más utilizado fue el tunelizado tanto en niños (74,3%) como en adultos (38,2%). Finalizaron 81 episodios; la causa más frecuente fue el fallecimiento (62,9%) y que pasaron a vía oral (34,7%). Conclusiones: se mantiene el incremento progresivo de centros y profesionales colaboradores en el registro de pacientes que reciben NPD. Las principales indicaciones de NPD y de motivo de finalización se mantienen estables


Aim: to communicate HPN data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.com) for the year 2017. 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, 2017 to December 31st, 2017. Results: there were 308 patients from 45 Spanish hospitals (54.5% women), 38 children and 270 adults, with 3,012 episodes, which represent a prevalence rate of 6.61 patients/million inhabitants/year 2017. The most frequent diagnosis in adults was "palliative cancer" (25.6%), followed by "others". In children, it was Hirschsprung's disease with six cases (15.8%). The first indication was short bowel syndrome in both children (55.3%) and adults (33.7%). The most frequently used type of catheter was tunneled in both children (73.4%) and adults (38.2%). Ending 81 episodes, the most frequent cause was death (62.9%) and transition to oral feeding (34.7%). Conclusions: the progressive increase of collaborating centers and professionals in the registry of patients receiving NPD is maintained. The main indications of HPN and the motive for ending have remained stable


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Nutrição Parenteral/estatística & dados numéricos , Doença de Hirschsprung/terapia , Neoplasias/terapia , Cuidados Paliativos/métodos , Cuidados Paliativos/estatística & dados numéricos , Registros , Síndrome do Intestino Curto/terapia , Espanha
16.
Nutr Hosp ; 34(5): 1497-1501, 2017 Nov 24.
Artigo em Espanhol | MEDLINE | ID: mdl-29280669

RESUMO

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.


Assuntos
Nutrição Parenteral no Domicílio/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Assistência Ambulatorial , Criança , Pré-Escolar , Feminino , Gastroenteropatias/epidemiologia , Gastroenteropatias/terapia , Serviços de Assistência Domiciliar , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Espanha , Adulto Jovem
17.
PLoS One ; 12(12): e0189153, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29228058

RESUMO

AIMS/HYPOTHESIS: Failure in glucose response to insulin is a common pathology associated with obesity. In this study, we analyzed the genome wide DNA methylation profile of visceral adipose tissue (VAT) samples in a population of individuals with obesity and assessed whether differential methylation profiles are associated with the presence of type 2 diabetes (T2D). METHODS: More than 485,000 CpG genome sites from VAT samples from women with obesity undergoing gastric bypass (n = 18), and classified as suffering from type 2 diabetes (T2D) or not (no type 2 diabetes, NT2D), were analyzed using DNA methylation arrays. RESULTS: We found significant differential methylation between T2D and NT2D samples in 24 CpGs that map with sixteen genes, one of which, HOOK2, demonstrated a significant correlation between differentially hypermethylated regions on the gene body and the presence of type 2 diabetes. This was validated by pyrosequencing in a population of 91 samples from both males and females with obesity. Furthermore, when these results were analyzed by gender, female T2D samples were found hypermethylated at the cg04657146-region and the cg 11738485-region of HOOK2 gene, whilst, interestingly, male samples were found hypomethylated in this latter region. CONCLUSION: The differential methylation profile of the HOOK2 gene in individuals with T2D and obesity might be related to the attendant T2D, but further studies are required to identify the potential role of HOOK2 gene in T2D disease. The finding of gender differences in T2D methylation of HOOK2 also warrants further investigation.


Assuntos
Tecido Adiposo/metabolismo , Metilação de DNA , Diabetes Mellitus Tipo 2/genética , Proteínas Associadas aos Microtúbulos/genética , Obesidade/genética , Estudos de Coortes , Feminino , Humanos , Masculino
18.
Nutr. hosp ; 34(6): 1497-1501, nov.-dic. 2017. graf
Artigo em Espanhol | IBECS | ID: ibc-169003

RESUMO

Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del Grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA-SENPE; www.nadya-senpe.com) del año 2016. Material y métodos: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE desde el 1 de enero al 31 de diciembre de 2016. Resultados: se registraron 286 pacientes (54,2% mujeres), 34 niños y 252 adultos, procedentes de 42 hospitales españoles con 294 episodios, lo que representa una tasa de prevalencia de 6,16 pacientes/millón de habitantes/año 2016. El diagnóstico más frecuente en adultos fue de oncológico paliativo (25,8%), seguido de otros. En niños, fue de alteraciones de la motilidad con 6 casos (17,6%), la enfermedad de Hirschsprung y la enterocolitis necrotizante, ambos con 5 niños (14,7%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (64,7%) como en adultos (37,3%), seguido de obstrucción intestinal, 28,6% en adultos y 14,7% en niños. El tipo de catéter más utilizado fue el tunelizado tanto en niños (70,6%) como en adultos (37,9%), y la complicación más frecuente en adultos fue la infección relacionada con el catéter, que presentó una tasa de 0,48 infecciones/1.000 días de NPD. Durante este periodo, finalizaron 71 episodios en adultos siendo la causa de finalización principal el fallecimiento (57,7%) y paso a vía oral (31%). Conclusiones: se constata un incremento progresivo de centros y profesionales colaboradores en el registro de pacientes que reciben NPD. Las principales indicaciones de NPD y de motivo de finalización se mantienen estables (AU)


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 31 st, 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 (AU)


Assuntos
Humanos , Criança , Adulto , Nutrição Parenteral no Domicílio/métodos , Nutrição Parenteral no Domicílio/normas , Nutrição da Criança , Apoio Nutricional/métodos , Qualidade de Vida , Alimentação com Mamadeira/normas , Alimentos Formulados/normas , Alimentos Formulados , Serviços de Assistência Domiciliar/organização & administração , Serviços de Assistência Domiciliar/normas , Análise de Variância
19.
Nutr Hosp ; 33(6): 1487-1490, 2016 Nov 29.
Artigo em Espanhol | MEDLINE | ID: mdl-28000484

RESUMO

Objetivo: Comunicar los datos del registro de Nutrición Parenteral Domiciliaria (NPD) del grupo de trabajo NADYA-SENPE del años 2015.Material y métodos: Recopilación de los datos de NPD del registro "on-line" del grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA) desde el 1 de enero de 2015 al 31 de diciembre de 2015.Resultados: Se registraron 236 pacientes, con 243 episodios de NPD procedentes de 40 hospitales. Lo que representa una tasa de 5,08 pacientes/millón de habitantes/ año 2015. La patología más frecuente en los adultos fue "otros" (26,3%) seguido por "oncológico paliativo" (21,6%).  La complicación más frecuente fue la séptica relacionada con el catéter que presentó una tasa de 0,53 infecciones/1000 días de NPD. Finalizaron 64 episodios, la principal causa fue el fallecimiento (43,7%) y el 'paso a la vía oral' (32,8%).Conclusiones: constatamos el aumento de los centros y profesionales colaboradores, dando respuesta a la cantidad progresivamente mayor de pacientes con soporte nutricional parenteral en domicilio. Se mantienen estables las principales indicaciones para el establecimiento de NPD y las causas de finalización del tratamiento.


Assuntos
Nutrição Parenteral no Domicílio/tendências , Infecções Relacionadas a Cateter/epidemiologia , Humanos , Neoplasias/terapia , Nutrição Parenteral no Domicílio/efeitos adversos , Nutrição Parenteral no Domicílio/estatística & dados numéricos , Espanha
20.
Nutr. hosp ; 33(6): 1487-1490, nov.-dic. 2016. graf
Artigo em Espanhol | IBECS | ID: ibc-159834

RESUMO

Objetivo: comunicar los datos del registro de Nutrición Parenteral Domiciliaria (NPD) del grupo de trabajo NADYA-SENPE del año 2015. Material y métodos: recopilación de los datos de NPD del registro online del grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA) desde el 1 de enero de 2015 al 31 de diciembre de 2015. Resultados: se registraron 236 pacientes, con 243 episodios de NPD procedentes de 40 hospitales, lo que representa una tasa de 5,08 pacientes/millón de habitantes/año 2015. La patología más frecuente en los adultos fue «otros» (26,3%) seguido por «oncológico paliativo» (21,6%). La complicación más frecuente fue la séptica relacionada con el catéter, que presentó una tasa de 0,53 infecciones/1.000 días de NPD. Finalizaron 64 episodios, la principal causa fue el fallecimiento (43,7%) y el «paso a la vía oral» (32,8%). Conclusiones: constatamos el aumento de los centros y profesionales colaboradores, dando respuesta a la cantidad progresivamente mayor de pacientes con soporte nutricional parenteral en domicilio. Se mantienen estables las principales indicaciones para el establecimiento de NPD y las causas de finalización del tratamiento (AU)


Aim: To communicate the results of the Spanish Home Parenteral Nutrition (HEN) registry of the NADYA-SENPE group for the year 2015. Material and methods: Data was recorded online by NADYA group collaborators that were responsible of the HPN follow-up from 1st January to 31st December 2015. Results: Two hundred and thirty-six patients with 243 episodes of NPD were recorded from 40 hospitals. This represents a rate of 5.08 patients/million habitants for 2015. The most frequent pathology in adults was other (26.3%) followed by palliative oncological (21.6%). The most common complication was catheter-related sepsis which presented a rate of 0.53 infections/1,000 days of HPN. Sixty-four episodes were finished; the main cause was death (43.7%) and resuming to oral via (32.8%). Conclusions: we fi nd increasing centers and professional partners, responding to the progressively more patients with parenteral nutrition support at home. The main indications for the establishment of NPD and causes termination of treatment remain stable (AU)


Assuntos
Humanos , Masculino , Feminino , Nutrição Parenteral no Domicílio/estatística & dados numéricos , Distúrbios Nutricionais/dietoterapia , Apoio Nutricional/estatística & dados numéricos , Registros de Doenças/estatística & dados numéricos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos
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