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Article ; Online: Impact of COVID-19 pandemic on HbA

Oliver, Paloma / Pellicer, Marina / Prieto, Daniel / Diaz-Garzon, Jorge / Mora, Roberto / Tomoiu, Ileana / Gonzalez, Noemi / Carcavilla, Atilano / Gonzalez-Casado, Isabel / Losantos, Itsaso / Buño, Antonio / Fernandez-Calle, Pilar

Advances in laboratory medicine

2023 Volume 4, Issue 1, Page(s) 105–119

Abstract: Objectives: Diabetes mellitus intensify the risks and complications related to COVID-19 infection. A major effect of the pandemic has been a drastic reduction of in-person visits. The aim of this study was to evaluate the impact of the COVID-19 pandemic ...

Abstract	Objectives: Diabetes mellitus intensify the risks and complications related to COVID-19 infection. A major effect of the pandemic has been a drastic reduction of in-person visits. The aim of this study was to evaluate the impact of the COVID-19 pandemic on HbA Methods: Observational retrospective study including patients from pediatric and adult diabetes units was conducted. HbA Results: After the lockdown, the number of HbA Conclusions: Continuous glucose monitoring and a telemedicine have been crucial, even allowing for improvements in HbA
Language	Spanish
Publishing date	2023-02-28
Publishing country	Germany
Document type	Journal Article
ISSN	2628-491X
ISSN (online)	2628-491X
DOI	10.1515/almed-2022-0098
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Article: Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Carcavilla, Atilano / Cambra, Ana / Santomé, José L / Seidel, Verónica / Cruz, Jaime / Alonso, Milagros / Pozo, Jesús / Valenzuela, Irene / Guillén-Navarro, Encarna / Santos-Simarro, Fernando / González-Casado, Isabel / Rodríguez, Amparo / Medrano, Constancio / López-Siguero, Juan Pedro / Ezquieta, Begoña

Journal of clinical medicine

2023 Volume 12, Issue 15

Abstract: Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a ... ...

Abstract	Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than
Language	English
Publishing date	2023-07-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12155003
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Article ; Online: Diagnóstico de 3 casos de cáncer de tiroides en un año.

Villalba Castaño, Clara / Carcavilla Urquí, Atilano / Aragonés Gallego, Ángel / Sastre Marcos, Julia / Morlan López, Miguel Ángel

Anales de pediatria

2018 Volume 90, Issue 6, Page(s) 397–399

Title translation	Diagnosis Of Three Cases Of Thyroid Cancer In One Year.
MeSH term(s)	Adolescent ; Child ; Female ; Humans ; Male ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/surgery ; Time Factors
Language	Spanish
Publishing date	2018-06-18
Publishing country	Netherlands
Document type	Letter
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpedi.2018.05.008
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Article ; Online: Consensus guide on prophylactic gonadectomy in different sex development.

Guerrero-Fernández, Julio / González-Peramato, Pilar / Rodríguez Estévez, AmaiaRodríguez / Alcázar Villar, María José / Audí Parera, Laura / Azcona San Julián, María Cristina / Carcavilla Urquí, Atilano / Castaño González, Luis Antonio / Martos Tello, José María / Mora Palma, Cristina / Moreno Macián, Maria Francisca / Yeste Fernández, Diego / Nistal, Manuel

Endocrinologia, diabetes y nutricion

2022 Volume 69, Issue 8, Page(s) 629–645

Abstract: The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that ... ...

Abstract	The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.
MeSH term(s)	Humans ; Consensus ; Sexual Development ; Neoplasms, Germ Cell and Embryonal/surgery ; Castration
Language	English
Publishing date	2022-11-08
Publishing country	Spain
Document type	Practice Guideline ; Journal Article
ISSN	2530-0180
ISSN (online)	2530-0180
DOI	10.1016/j.endien.2022.10.002
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Article ; Online: Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas.

Carcavilla, Atilano / Suárez-Ortega, Larisa / Rodríguez Sánchez, Amparo / Gonzalez-Casado, Isabel / Ramón-Krauel, Marta / Labarta, Jose Ignacio / Quinteiro Gonzalez, Sofia / Riaño Galán, Isolina / Ezquieta Zubicaray, Begoña / López-Siguero, Juan Pedro

Anales de pediatria

2020 Volume 93, Issue 1, Page(s) 61.e1–61.e14

Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called ... ...

Title translation	Noonan syndrome: genetic and clinical update and treatment options.
Abstract	Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies». Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches.
MeSH term(s)	Diagnosis, Differential ; Genetic Markers ; Genotype ; Humans ; Mitogen-Activated Protein Kinases/genetics ; Mutation ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Noonan Syndrome/therapy ; Phenotype ; Proto-Oncogene Proteins p21(ras)/genetics
Chemical Substances	Genetic Markers ; Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
Language	Spanish
Publishing date	2020-05-31
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpedi.2020.04.008
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Article ; Online: Body Composition as a Mediator between Cardiorespiratory Fitness and Bone Mass during Growth.

Rodríguez-Gómez, Irene / Martín-García, María / García-Cuartero, Beatriz / González-Vergaz, Amparo / Carcavilla, Atilano / Aragonés, Ángel / Alegre, Luis M / Ara, Ignacio

Medicine and science in sports and exercise

2020 Volume 52, Issue 2, Page(s) 498–506

Abstract: Introduction and purpose: To examine the effect of cardiorespiratory fitness (CRF) and muscle power output (MPO) on bone mass of prepubertal and pubertal children using lean mass (LM) and percentage of fat mass (%FM) as mediator variables. The ... ...

Abstract	Introduction and purpose: To examine the effect of cardiorespiratory fitness (CRF) and muscle power output (MPO) on bone mass of prepubertal and pubertal children using lean mass (LM) and percentage of fat mass (%FM) as mediator variables. The hypothesis was that both LM and %FM would be independent mediators of the relationships during the sexual maturation period. Methods: We analyzed 200 children (88 boys and 112 girls [11.5 ± 2.0 yr]). Body composition was analyzed by bone densitometry, and indirect calorimetry and cycle ergometer were used to calculate V˙O2peak (mL·kg·min) and MPO (W) during an incremental exercise test. Sample was divided by pubertal status. Results: In the prepubertal group, LM and %FM acted independently as mediators in the relationship between bone mass and CRF or MPO (22%-25% for LM and 37%-50% for %FM, respectively). In pubertal children, LM acted as mediator at 37%. Conclusions: Although the independent mediator role of LM and %FM in the associations between CRF or MPO and bone mass was present during the prepubertal stage, only LM remain its mediator role in these associations during the postpubertal period. Therefore, with growth and sexual maturation, the full effect of LM seems to increase, whereas the influence of %FM seems to disappear.
MeSH term(s)	Adolescent ; Body Fat Distribution ; Body Mass Index ; Bone Density/physiology ; Cardiorespiratory Fitness/physiology ; Child ; Female ; Humans ; Male ; Sexual Maturation/physiology
Language	English
Publishing date	2020-01-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603994-7
ISSN	1530-0315 ; 0195-9131 ; 0025-7990
ISSN (online)	1530-0315
ISSN	0195-9131 ; 0025-7990
DOI	10.1249/MSS.0000000000002146
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Article ; Online: Long-term benefits in lung function and nutritional status of strict metabolic control of cystic fibrosis-related diabetes.

Martín-Frías, María / Máiz, Luis / Carcavilla, Atilano / Barrio, Raquel

Archivos de bronconeumologia

2011 Volume 47, Issue 10, Page(s) 531–534

Abstract: Cystic fibrosis related diabetes (CFRD) is a strong determinant for lung function decline and increased mortality. Insulin treatment of CFRD is reportedly beneficial for this situation. We report on the long-term impact of insulin treatment of CFRD on ... ...

Abstract	Cystic fibrosis related diabetes (CFRD) is a strong determinant for lung function decline and increased mortality. Insulin treatment of CFRD is reportedly beneficial for this situation. We report on the long-term impact of insulin treatment of CFRD on pulmonary function and nutritional status in a CF male patient since diagnosis of diabetes. We report the case of a patient diagnosed with CF at the age of 16. Two years later, he experienced a rapidly evolving decrease in pulmonary function, some months later criteria were met warranting lung transplantation. Concomitantly, he was diagnosed with CFRD and insulin therapy was started. Lung function (spirometry), nutritional status (body mass index) and metabolic control (HbA(1c)) were determined every 3 months. After the introduction of insulin treatment, pulmonary function and nutritional status progressively improved and good glycemic control was achieved. The significant and sustained improvement in pulmonary function allowed for the patient's withdrawal from the lung transplantation program within 4 months, a situation which has been maintained until now, 8 years later. The long follow-up of our patient documents the rapid and prolonged beneficial effect of proper metabolic control of CFRD on the respiratory deterioration in CF.
MeSH term(s)	Adolescent ; Cystic Fibrosis/blood ; Cystic Fibrosis/complications ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/physiopathology ; Diabetes Complications/blood ; Diabetes Complications/drug therapy ; Diabetes Complications/physiopathology ; Diabetes Mellitus/blood ; Diabetes Mellitus/drug therapy ; Diabetes Mellitus/physiopathology ; Glycated Hemoglobin A/analysis ; Humans ; Hypoglycemic Agents/therapeutic use ; Insulin/therapeutic use ; Male ; Nutritional Status ; Spirometry ; Time Factors
Chemical Substances	Glycated Hemoglobin A ; Hypoglycemic Agents ; Insulin ; hemoglobin A1c protein, human
Language	Spanish
Publishing date	2011-10
Publishing country	Spain
Document type	Case Reports ; Journal Article
ZDB-ID	733126-5
ISSN	1579-2129 ; 0300-2896
ISSN (online)	1579-2129
ISSN	0300-2896
DOI	10.1016/j.arbres.2011.06.004
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Article ; Online: Un caso de síndrome de Noonan con enfermedad celíaca debido a mutación en SOS1.

Carcavilla Urquí, Atilano / Santomé Collazo, José Luis / Barrio Castellanos, Raquel / Ezquieta Zubicaray, Begoña

Medicina clinica

2011 Volume 137, Issue 14, Page(s) 666–667

Title translation	A case of Noonan Syndrome with coeliac disease due to SOS1 mutation.
MeSH term(s)	Adolescent ; Celiac Disease/complications ; Celiac Disease/diagnosis ; Celiac Disease/genetics ; Child, Preschool ; Humans ; Male ; Mutation, Missense ; Noonan Syndrome/complications ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; SOS1 Protein/genetics
Chemical Substances	SOS1 Protein
Language	Spanish
Publishing date	2011-11-26
Publishing country	Spain
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	411607-0
ISSN	1578-8989 ; 0025-7753
ISSN (online)	1578-8989
ISSN	0025-7753
DOI	10.1016/j.medcli.2011.03.004
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Article ; Online: Effectiveness, safety and costs of the FreeStyle Libre glucose monitoring system for children and adolescents with type 1 diabetes in Spain

Lilisbeth Perestelo-Pérez / Amado Rivero-Santana / Cristina Valcárcel-Nazco / Yolanda Álvarez-Pérez / Pedro Serrano-Aguilar / Yolanda Ramallo-Fariña / Lidia García-Pérez / Miguel Angel García-Bello / Himar Gonzalez-Pacheco / Ariadna Campos Martorell / Amparo González Vergaz / Ana María Prado Carro / Anunciación Beisti Ortego / Atilano José Carcavilla Urqui / Cristina Amparo Del Castillo Villaescusa / Estela Gil Poch / Francisco Javier Arroyo Diez / Gemma Novoa Gómez / Isabel González Casado /

Juncal Martínez Ibáñez / Laura Cuadrado Piqueras / Leticia Reis Iglesias / Lucia Garzón Lorenzo / Luis Salamanca Fresno / María Asunción Martínez Brocca / María Aurea Rodríguez Blanco / María Del Mar Martínez López / María Jesús Ferreiro Rodríguez / María Ruiz del Campo / Nerea Itza Martín / Patricia García Navas / Rebeca García García

BMJ Open, Vol 13, Iss

a prospective, uncontrolled, pre-post study

2023 Volume 12

Abstract: Objectives This study aimed to evaluate the effectiveness, safety and costs of FreeStyle Libre (FSL) glucose monitoring system for children and adolescents with type 1 diabetes mellitus (T1DM) in Spain.Design Prospective, multicentre pre-post study ... ...

Abstract	Objectives This study aimed to evaluate the effectiveness, safety and costs of FreeStyle Libre (FSL) glucose monitoring system for children and adolescents with type 1 diabetes mellitus (T1DM) in Spain.Design Prospective, multicentre pre-post study.Setting Thirteen Spanish public hospitals recruited patients from January 2019 to March 2020, with a 12-month follow-up.Participants 156 patients were included.Primary and secondary outcome measures Primary: glycated haemoglobin (HbA1c) change. Secondary: severe hypoglycaemic events (self-reported and clinical records), quality of life, diabetes treatment knowledge, treatment satisfaction, adverse events, adherence, sensor usage time and scans. Healthcare resource utilisation was assessed for cost analysis from the National Health System perspective, incorporating direct healthcare costs. Data analysis used mixed regression models with repeated measures. The intervention’s total cost was estimated by multiplying health resource usage with unit costs.Results In the whole sample, HbA1c increased significantly (0.32%; 95% CI 0.10% to 0.55%). In the subgroup with baseline HbA1c≥7.5% (n=88), there was a significant reduction at 3 months (−0.46%; 95% CI −0.69% to −0.23%), 6 months (−0.49%; 95% CI −0.73% to −0.25%) and 12 months (−0.43%; 95% CI −0.68% to –0.19%). Well-controlled patients had a significant 12-month worsening (0.32%; 95% CI 0.18% to 0.47%). Self-reported severe hypoglycaemia significantly decreased compared with the previous year for the whole sample (−0.37; 95% CI −0.62 to –0.11). Quality of life and diabetes treatment knowledge showed no significant differences, but satisfaction increased. Adolescents had lower sensor usage time and scans than children. Reduction in HbA1c was significantly associated with device adherence. No serious adverse effects were observed. Data suggest that use of FSL could reduce healthcare resource use (strips and lancets) and costs related to productivity loss.Conclusions The use of FSL in young patients with T1DM was associated ...
Keywords	Medicine ; R
Language	English
Publishing date	2023-12-01T00:00:00Z
Publisher	BMJ Publishing Group
Document type	Article ; Online
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Article ; Online: LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Carcavilla, Atilano / Pinto, Isabel / Muñoz-Pacheco, Rafael / Barrio, Raquel / Martin-Frías, Maria / Ezquieta, Begoña

European journal of pediatrics

2011 Volume 170, Issue 8, Page(s) 1069–1074

Abstract: Noonan syndrome (NS) and neurofibromatosis type 1 (NF1) are well-defined entities. The association of both disorders is called neurofibromatosis-Noonan syndrome (NFNS), a disorder that has been related to mutations in the NF1 gene. Both NS and NFNS ... ...

Abstract	Noonan syndrome (NS) and neurofibromatosis type 1 (NF1) are well-defined entities. The association of both disorders is called neurofibromatosis-Noonan syndrome (NFNS), a disorder that has been related to mutations in the NF1 gene. Both NS and NFNS display phenotypic overlapping with LEOPARD syndrome (LS), and differential diagnosis between these two entities often represents a challenge for clinicians. We report on three patients (two brothers and a not-related patient) diagnosed as having NFNS. They fulfilled NF1 diagnostic criteria and had some features of NS. The three of them had hypertophic cardiomyopathy while neurofibromas, Lisch nodules, and unidentified bright objects on MRI were absent. PTPN11 gene assays revealed a T468M mutation, typical of LS. Thorough clinical examinations of the patients revealed multiple lentigines, which were considered to be freckling in the initial evaluation. We conclude that NF1 clinical criteria should be used with caution in patients with features of NS. Patients with hyperpigmented cutaneous spots associated with cardiac anomalies, even if fulfilling the minimal NF1 criteria for diagnosis, should be strongly considered for LS diagnosis.
MeSH term(s)	Adolescent ; Child ; DNA Mutational Analysis ; Diagnosis, Differential ; Humans ; Infant ; LEOPARD Syndrome/diagnosis ; LEOPARD Syndrome/genetics ; Male ; Neurofibromatosis 1/diagnosis ; Noonan Syndrome/diagnosis ; Pedigree ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
Chemical Substances	PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48)
Language	English
Publishing date	2011-03-02
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	194196-3
ISSN	1432-1076 ; 0340-6199 ; 0943-9676
ISSN (online)	1432-1076
ISSN	0340-6199 ; 0943-9676
DOI	10.1007/s00431-011-1418-5
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