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Article ; Online: Implementation of the Spanish Paediatric Bronchiectasis Registry (Child-BEAR-es Registry).

Garriga-Grimau, Laura / Sanz-Santiago, Verónica / Moreno-Galdó, Antonio

2024

Language	Spanish
Publishing date	2024-05-06
Publishing country	Spain
Document type	Editorial
ZDB-ID	733126-5
ISSN	1579-2129 ; 0300-2896
ISSN (online)	1579-2129
ISSN	0300-2896
DOI	10.1016/j.arbres.2024.05.003
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Article ; Online: Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel

Baz-Redón, Noelia / Sánchez-Bellver, Laura / Fernández-Cancio, Mónica / Rovira-Amigo, Sandra / Burgoyne, Thomas / Ranjit, Rai / Aquino, Virginia / Toro-Barrios, Noemí / Carmona, Rosario / Polverino, Eva / Cols, Maria / Moreno-Galdó, Antonio / Camats-Tarruella, Núria / Marfany, Gemma

Cells

2024 Volume 13, Issue 6

Abstract: We report a ... ...

Abstract	We report a novel
MeSH term(s)	Humans ; Male ; Ciliary Motility Disorders/genetics ; Eye Proteins/metabolism ; Genes, Modifier ; Mutation ; Retinitis Pigmentosa/genetics
Chemical Substances	Eye Proteins ; RPGR protein, human
Language	English
Publishing date	2024-03-16
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells13060524
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Article ; Online: Implementation of programmes for the transition of adolescents to adult care.

Moreno-Galdó, Antonio / Regné-Alegret, Maria Creu / Aceituno-López, María Angeles / Camprodón-Gómez, María / Martí-Beltran, Sergi / Lara-Fernández, Roser / Del-Toro-Riera, Mireia

Anales de pediatria

2023 Volume 99, Issue 6, Page(s) 422–430

Abstract: Up to 15-20% of adolescents have a chronic health problem. Adolescence is a period of particular risk for the development or progression of chronic diseases for both individuals with more prevalent conditions and those affected by rare diseases. The ... ...

Abstract	Up to 15-20% of adolescents have a chronic health problem. Adolescence is a period of particular risk for the development or progression of chronic diseases for both individuals with more prevalent conditions and those affected by rare diseases. The transition from paediatric to adult care begins with preparing and training the paediatric patient, accustomed to supervised care, to assume responsibility for their self-care in an adult care setting. The transition takes place when the young person is transferred to adult care and discharged from paediatric care services. It is only complete when the youth is integrated and functioning competently within the adult care system. Adult care providers play a crucial role in welcoming and integrating young adults. A care transition programme can involve transitions of varying complexity, ranging from those required for common and known diseases such as asthma, whose management is more straightforward, to rare complex disorders requiring highly specialized personnel. The transition requires teamwork with the participation of numerous professionals: paediatricians and adult care physicians, nurses, clinical psychologists, health social workers, the pharmacy team and administrative staff. It is essential to involve adolescents in decision-making and for parents to let them take over gradually. A well-structured transition programme can improve health outcomes, patient experience, the use of health care resources and health care costs.
MeSH term(s)	Young Adult ; Humans ; Adolescent ; Child ; Adult ; Transition to Adult Care ; Health Care Costs ; Parents
Language	English
Publishing date	2023-11-27
Publishing country	Spain
Document type	Journal Article
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpede.2023.09.014
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Article ; Online: Arrangement of residence before hospital discharge for children on home-invasive mechanical ventilation.

Torrent-Vernetta, Alba / Soriano, Maria Morillo / Iglesias Serrano, Ignacio / Izquierdo, Ana Díez / Rovira Amigo, Sandra / Messa, Inés Mir / Gartner, Silvia / Moreno-Galdó, Antonio

Pediatric pulmonology

2023

Abstract: Children on long-term home mechanical ventilation are a growing population due to clinical and technological advances and the benefit for the child's quality of life. Invasive home ventilation is one of the most complex therapies offered in the home ... ...

Abstract	Children on long-term home mechanical ventilation are a growing population due to clinical and technological advances and the benefit for the child's quality of life. Invasive home ventilation is one of the most complex therapies offered in the home setting, requiring adequate home environment and appropriate equipment and supplies before discharge. The transition from hospital to home represents a vulnerable period that can be facilitated with an established transition plan with multidisciplinary team involvement. Readiness for home care is achieved when the patient is stable and has been transitioned from a critical care ventilator to a home mechanical ventilator. In parallel, comprehensive competency-based training regarding the knowledge and skills needed to help families use the equipment confidently and safely. Before discharge, families should be counseled on an adequate home environment to ensure a safe transition. The residence arrangement may include physical space modifications, verifying electrical installation, or moving to another home. Durable medical equipment and supplies must be ordered, and community healthcare support arranged. Parents should receive practical advice on setting up the equipment at home and on preventive measures to minimize complications related to tracheostomy and ventilator dependence, including regular maintenance and replacement of necessary equipment. Given the overall impact of invasive ventilation on home life, a structured home care action package is essential to alleviate the burdens involved.
Language	English
Publishing date	2023-11-20
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	632784-9
ISSN	1099-0496 ; 8755-6863
ISSN (online)	1099-0496
ISSN	8755-6863
DOI	10.1002/ppul.26758
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Article: Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients.

Mogas, E / Campos-Martorell, A / Clemente, M / Castaño, L / Moreno-Galdó, A / Yeste, D / Carrascosa, A

Endocrinology, diabetes & metabolism case reports

2018 Volume 2018

Abstract: Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, ...

Abstract	Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene ( Learning points: Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.Genetic tests searching for
Language	English
Publishing date	2018-06-06
Publishing country	England
Document type	Journal Article
ZDB-ID	2785530-2
ISSN	2052-0573
ISSN	2052-0573
DOI	10.1530/EDM-18-0009
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Article: Epigenetic regulation of inflammation by microRNAs in post-infectious bronchiolitis obliterans.

Duecker, Ruth P / De Mir Messa, Ines / Jerkic, Silvija-Pera / Kochems, Annalena / Gottwald, Gabriele / Moreno-Galdó, Antonio / Rosewich, Martin / Gronau, Lucia / Zielen, Stefan / Geburtig-Chiocchetti, Andreas / Kreyenberg, Hermann / Schubert, Ralf

Clinical & translational immunology

2022 Volume 11, Issue 2, Page(s) e1376

Abstract: Objectives: Post-infectious bronchiolitis obliterans (PiBO) is a rare, chronic disease initiated by severe infection and followed by perpetuating inflammation and obliteration of the small airways. MicroRNAs (miRNAs) have been proposed to play a central ...

Abstract	Objectives: Post-infectious bronchiolitis obliterans (PiBO) is a rare, chronic disease initiated by severe infection and followed by perpetuating inflammation and obliteration of the small airways. MicroRNAs (miRNAs) have been proposed to play a central role as epigenetic regulators, which control resolution and prevent the uncontrolled progress of inflammation. The aim of this study was to define biomarkers on the level of post-transcriptional gene regulation in order to characterise PiBO. Methods: A total of 39 patients with well-defined PiBO and 31 controls from two centres, Barcelona, Spain, and Frankfurt, Germany, were analysed by next-generation sequencing (NGS). The evaluation of the biological targets of the miRNAs was performed by pathway enrichment analysis and protein-protein interaction network analysis respectively. Results: Patients with PiBO had significantly lower lung function values and increased airway inflammation in induced sputum as indicated by total cell counts, neutrophils, IL-1β, IL-6, IL-8 and TGF-β compared to controls.Next-generation sequencing analysis revealed a total of 22 dysregulated miRNAs, which passed significance threshold for Conclusion: Our results demonstrate an aberrant miRNA expression profile in PiBO, which impacts pathways responsible for the regulation of inflammation and fibrosis. The defined miRNAs are useful biomarkers and should be assessed as potential target in the field of miRNA therapeutics.
Language	English
Publishing date	2022-02-21
Publishing country	Australia
Document type	Journal Article
ZDB-ID	2694482-0
ISSN	2050-0068
ISSN	2050-0068
DOI	10.1002/cti2.1376
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Article ; Online: Genetic diagnosis of basal ganglia disease in childhood.

Baide-Mairena, Heidy / Marti-Sánchez, Laura / Marcé-Grau, Anna / Cazurro-Gutiérrez, Ana / Sanchez-Montanez, Angel / Delgado, Ignacio / Moreno-Galdó, Antonio / Macaya-Ruiz, Alfons / García-Arumí, Elena / Pérez-Dueñas, Belén

Developmental medicine and child neurology

2022 Volume 64, Issue 6, Page(s) 743–752

Abstract: Aim: To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition.: Method: Children with basal ... ...

Abstract	Aim: To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition. Method: Children with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. Radiological pattern recognition was examined by hierarchical clustering analysis. Results: We identified 22 genetic conditions in 30 out of 62 paediatric patients (37 males, 25 females; mean age at onset 2y, SD 3; range 0-10y; mean age at assessment 11y, range 1-25y) through gene panels (n=11), whole-exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6). Genetic aetiologies included mitochondrial diseases (57%), Aicardi-Goutières syndrome (20%), and monogenic causes of dystonia and/or epilepsy (17%) mimicking Leigh syndrome. Radiological abnormalities included T2-hyperintense lesions (n=26) and lesions caused by calcium or manganese mineralization (n=9). Three clusters were identified: the pallidal, neostriatal, and striatal, plus the last including mtDNA defects in the oxidative phosphorylation system with prominent brain atrophy. Mitochondrial biomarkers showed poor sensitivity and specificity in children with mitochondrial disease, whereas interferon signature was observed in all patients with patients with Aicardi-Goutières syndrome. Interpretation: Combined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. We propose a diagnostic algorithm which prioritizes early use of next-generation sequencing on the basis of three clusters of basal ganglia lesions.
MeSH term(s)	Autoimmune Diseases of the Nervous System ; Basal Ganglia Diseases/diagnosis ; Basal Ganglia Diseases/genetics ; Child ; Child, Preschool ; DNA, Mitochondrial ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation ; Nervous System Malformations ; Prospective Studies
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2022-01-05
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
DOI	10.1111/dmcn.15125
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Article ; Online: 16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

Lasa-Aranzasti, Amaia / Cazurro-Gutiérrez, Ana / Bescós, Agustín / González, Victoria / Ispierto, Lourdes / Tardáguila, Manel / Valenzuela, Irene / Plaja, Alberto / Moreno-Galdó, Antonio / Macaya-Ruiz, Alfons / Pérez-Dueñas, Belen

Parkinsonism & related disorders

2022 Volume 103, Page(s) 112–114

MeSH term(s)	Humans ; Dystonia/genetics ; Dystonia/therapy ; Haploinsufficiency/genetics ; Dystonic Disorders/therapy ; Globus Pallidus ; Deep Brain Stimulation/adverse effects ; Treatment Outcome ; GTP-Binding Protein alpha Subunits, Gi-Go/genetics
Chemical Substances	GNAO1 protein, human ; GTP-Binding Protein alpha Subunits, Gi-Go (EC 3.6.5.1)
Language	English
Publishing date	2022-09-07
Publishing country	England
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2022.08.032
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Article: Pleurodesis con sangre autóloga en el tratamiento del neumotórax en pacientes pediátricos.

Jiménez Arribas, P / Laín Fernández, A / Guillén Burrieza, G / López-Fernández, S / Moreno Galdó, A / Lloret Roca, J

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica

2016 Volume 29, Issue 1, Page(s) 4–7

Abstract: Aim of the study: Recurrent spontaneous pneumothorax (SP) and persistent air leak (PAL) are a therapeutic challenge in some patients. Autologous blood pleurodesis (ABP) is an alternative treatment, but its usefulness in pediatric patients has not been ... ...

Title translation	Autologous blood pleurodesis for treatment of spontaneous pneumothorax and persistent air leak in pediatric patients.
Abstract	Aim of the study: Recurrent spontaneous pneumothorax (SP) and persistent air leak (PAL) are a therapeutic challenge in some patients. Autologous blood pleurodesis (ABP) is an alternative treatment, but its usefulness in pediatric patients has not been determined yet. Material and methods: Retrospective study of pediatric patients treated with ABP at our institution between 2010 and 2014, with special assessment of its indications, description of the technique, volume of blood used, complications and outcomes. Results: During this period, 29 patients were treated for SP. 5 of them (17.2%) received ABP. Indications were: 2 patients with recurrent SP after thoracoscopic bullae resection and pleurodesis and 3 patients with PAL (1 after thoracoscopic bullae resection and 2 in lung transplantation candidates who were not suitable for surgery). Median age was 14.3 years (11.9-16.6) and volume of blood used was 50 ml (26-60). The air leak stopped in a median of 2.6 days (1-7). One patient needed a second ABP for PAL and another one presented an ipsilateral recurrence of SP after ABP. Follow up time was 2.21 years (0.49-3.42). No complications were observed. Conclusions: ABP is a cheap, safe and easy to perform procedure and may be considered as a therapeutic option in some pediatric patients with SP or PAL.
MeSH term(s)	Adolescent ; Biological Therapy/methods ; Blood ; Child ; Humans ; Lung Diseases/therapy ; Pleurodesis/methods ; Pneumothorax/therapy ; Recurrence ; Retrospective Studies
Language	Spanish
Publishing date	2016-01-25
Publishing country	Spain
Document type	Journal Article
ZDB-ID	1214833-7
ISSN	2445-2807 ; 0214-1221
ISSN (online)	2445-2807
ISSN	0214-1221
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Article ; Online: Monitorización del tratamiento en el asma bronquial mediante determinación de fracción exhalada de óxido nítrico, eosinófilos y leucotrieno B4 en esputo inducido de población infantil.

Vizmanos-Lamotte, G / Cruz, M J / Gómez-Ollés, S / Muñoz, X / de Mir Messa, I / Moreno-Galdó, A

Anales de pediatria (Barcelona, Spain : 2003)

2015 Volume 82, Issue 1, Page(s) e21–5

Abstract: Sputum eosinophils and exhaled fractional nitric oxide (FENO) are markers of airway inflammation in asthma. Cytokines, cysteinyl-leukotrienes and leukotriene B4 (LTB4) are responsible for this inflammation. The aim of this study is to determine the ... ...

Title translation	Determining asthma treatment in children by monitoring fractional exhaled nitric oxide, sputum eosinophils and leukotriene B₄.
Abstract	Sputum eosinophils and exhaled fractional nitric oxide (FENO) are markers of airway inflammation in asthma. Cytokines, cysteinyl-leukotrienes and leukotriene B4 (LTB4) are responsible for this inflammation. The aim of this study is to determine the usefulness of these markers in monitoring asthma treatment in children. FENO, sputum eosinophils, and LTB4 in induced sputum were performed in 10 children (9-15 years old). These determinations were repeated four months later, after the beginning or an increase in the treatment. FENO values tended to decrease (P=.15), pulmonary function tended to improve (P=.10), and sputum eosinophils decreased (P=.003) compared to the first determination. There were no differences in LTB4 concentrations (P=.88). Sputum eosinophils seem to be more precise than FENO in the monitoring of inflammation in asthmatic children.
MeSH term(s)	Adolescent ; Asthma/drug therapy ; Asthma/immunology ; Breath Tests ; Child ; Eosinophils ; Humans ; Leukocyte Count ; Leukotriene B4/analysis ; Monitoring, Physiologic ; Nitric Oxide/analysis ; Prospective Studies ; Sputum/chemistry ; Sputum/cytology
Chemical Substances	Leukotriene B4 (1HGW4DR56D) ; Nitric Oxide (31C4KY9ESH)
Language	Spanish
Publishing date	2015-01
Publishing country	Spain
Document type	Journal Article
ISSN	1695-9531
ISSN (online)	1695-9531
DOI	10.1016/j.anpedi.2014.03.012
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