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Article ; Online: Antimicrobial stewardship programs in pediatrics: A growing reality in our country.

Fernández-Polo, Aurora / Soler-Palacín, Pere

Enfermedades infecciosas y microbiologia clinica (English ed.)

2022 Volume 40, Issue 2, Page(s) 51–52

MeSH term(s)	Anti-Bacterial Agents/therapeutic use ; Antimicrobial Stewardship ; Child ; Humans ; Pediatrics
Chemical Substances	Anti-Bacterial Agents
Language	English
Publishing date	2022-02-03
Publishing country	Spain
Document type	Editorial ; Comment
ISSN	2529-993X
ISSN (online)	2529-993X
DOI	10.1016/j.eimce.2021.12.007
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Article ; Online: Management of paediatric soil-transmitted helminthiasis in a non-endemic area: experience in a reference international health unit.

Espiau, Maria / Ajanovic, Sara / Zarzuela, Francesc / Maturana, Carles Rubio / Soler-Palacín, Pere / Soriano-Arandes, Antoni / Sulleiro, Elena

Parasitology research

2024 Volume 123, Issue 3, Page(s) 152

Abstract: Soil-transmitted helminth (STH) infections inflict disability worldwide, especially in the poorest communities. Current therapeutic options against STHs show limited efficacy, particularly against Trichuris trichiura. The empirical management of patients ...

Abstract	Soil-transmitted helminth (STH) infections inflict disability worldwide, especially in the poorest communities. Current therapeutic options against STHs show limited efficacy, particularly against Trichuris trichiura. The empirical management of patients coming from high-prevalence areas has been suggested for non-endemic areas. This study aimed to describe the management of STH infections in a non-endemic setting using an individualised approach. We performed a retrospective, descriptive study of all patients up to 16 years of age with STH infections attended at an international health unit in a non-endemic area (2014-2018), including all T. trichiura, Necator americanus, Ancylostoma duodenale, and Ascaris lumbricoides infections diagnosed using a formol-ether concentration technique and direct visualisation. Patients were treated according to current international guidelines. Sixty-one stool samples from 48 patients testing positive for STHs were collected, with 96% (46/48) reporting a previous long-term stay in endemic areas. Cure rates with 3-day benzimidazole regimens were 72% for T. trichiura, 40% for hookworms, and 83% for A. lumbricoides. The results were not influenced by any reinfection risk due to the study being performed in a non-endemic area. Patients coming from STH-endemic areas should be evaluated with appropriate diagnostic tools and followed up until cure control results. Cure rates in our cohort were moderate to low, similar to those published in studies in endemic areas. The efficacy of current treatment options is insufficient to recommend a specific empirical approach in high-income countries' healthcare systems.
MeSH term(s)	Humans ; Child ; Animals ; Global Health ; Retrospective Studies ; Helminthiasis/diagnosis ; Helminthiasis/drug therapy ; Helminthiasis/epidemiology ; Ascariasis ; Ancylostoma
Language	English
Publishing date	2024-03-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	284966-5
ISSN	1432-1955 ; 0932-0113 ; 0044-3255
ISSN (online)	1432-1955
ISSN	0932-0113 ; 0044-3255
DOI	10.1007/s00436-024-08171-8
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Article ; Online: Proceedings from the inaugural Artificial Intelligence in Primary Immune Deficiencies (AIPID) conference.

Rivière, Jacques G / Soler Palacín, Pere / Butte, Manish J

The Journal of allergy and clinical immunology

2024 Volume 153, Issue 3, Page(s) 637–642

Abstract: Here, we summarize the proceedings of the inaugural Artificial Intelligence in Primary Immune Deficiencies conference, during which experts and advocates gathered to advance research into the applications of artificial intelligence (AI), machine learning, ...

Abstract	Here, we summarize the proceedings of the inaugural Artificial Intelligence in Primary Immune Deficiencies conference, during which experts and advocates gathered to advance research into the applications of artificial intelligence (AI), machine learning, and other computational tools in the diagnosis and management of inborn errors of immunity (IEIs). The conference focused on the key themes of expediting IEI diagnoses, challenges in data collection, roles of natural language processing and large language models in interpreting electronic health records, and ethical considerations in implementation. Innovative AI-based tools trained on electronic health records and claims databases have discovered new patterns of warning signs for IEIs, facilitating faster diagnoses and enhancing patient outcomes. Challenges in training AIs persist on account of data limitations, especially in cases of rare diseases, overlapping phenotypes, and biases inherent in current data sets. Furthermore, experts highlighted the significance of ethical considerations, data protection, and the necessity for open science principles. The conference delved into regulatory frameworks, equity in access, and the imperative for collaborative efforts to overcome these obstacles and harness the transformative potential of AI. Concerted efforts to successfully integrate AI into daily clinical immunology practice are still needed.
MeSH term(s)	Humans ; Artificial Intelligence ; Machine Learning ; Natural Language Processing ; Data Collection ; Primary Immunodeficiency Diseases
Language	English
Publishing date	2024-01-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2024.01.002
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Article ; Online: Antimicrobial therapeutic drug monitoring in a high-complexity neonatal intensive care unit within a paediatric antibiotic stewardship program.

Mendoza-Palomar, Natalia / Vima, Jaume / Soler-Palacin, Pere / Castillo-Salinas, Félix

Enfermedades infecciosas y microbiologia clinica (English ed.)

2023 Volume 41, Issue 1, Page(s) 58–59

MeSH term(s)	Infant, Newborn ; Humans ; Child ; Antimicrobial Stewardship ; Intensive Care Units, Neonatal ; Drug Monitoring ; Anti-Infective Agents/therapeutic use ; Anti-Bacterial Agents/therapeutic use
Chemical Substances	Anti-Infective Agents ; Anti-Bacterial Agents
Language	English
Publishing date	2023-01-02
Publishing country	Spain
Document type	Case Reports ; Journal Article
ISSN	2529-993X
ISSN (online)	2529-993X
DOI	10.1016/j.eimce.2022.01.003
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Article ; Online: Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Garcia-Prat, Marina / Batlle-Masó, Laura / Parra-Martínez, Alba / Franco-Jarava, Clara / Martinez-Gallo, Mónica / Aguiló-Cucurull, Aina / Perurena-Prieto, Janire / Castells, Neus / Urban, Blanca / Dieli-Crimi, Romina / Soler-Palacín, Pere / Colobran, Roger

Journal of clinical immunology

2024 Volume 44, Issue 2, Page(s) 54

Abstract: ... expressed in all cases. Patient 1 harbored a hypomorphic variant in BTK (p.Tyr418His), patient 3 had ... a pathogenic variant in CD40LG (c.288+1G>A), and patient 4 had a hypomorphic variant in IKBKG (p.Glu57Lys) and ...

Abstract	The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific antibody production, and recurrent infections. The genetics of CVID is complex, and monogenic defects account for only a portion of cases, typically <30%. Other proposed mechanisms include digenic, oligogenic, or polygenic inheritance and epigenetic dysregulation. In this study, we aimed to assess the role of skewed X-chromosome inactivation (XCI) in CVID. Within our cohort of 131 genetically analyzed CVID patients, we selected female patients with rare variants in CVID-associated genes located on the X-chromosome. Four patients harboring heterozygous variants in BTK (n = 2), CD40LG (n = 1), and IKBKG (n = 1) were included in the study. We assessed XCI status using the HUMARA assay and an NGS-based method to quantify the expression of the 2 alleles in mRNA. Three of the 4 patients (75%) exhibited skewed XCI, and the mutated allele was predominantly expressed in all cases. Patient 1 harbored a hypomorphic variant in BTK (p.Tyr418His), patient 3 had a pathogenic variant in CD40LG (c.288+1G>A), and patient 4 had a hypomorphic variant in IKBKG (p.Glu57Lys) and a heterozygous splice variant in TNFRSF13B (TACI) (c.61+2T>A). Overall, the analysis of our cohort suggests that CVID in a small proportion of females (1.6% in our cohort) is caused by skewed XCI and highly penetrant gene variants on the X-chromosome. Additionally, skewed XCI may contribute to polygenic effects (3.3% in our cohort). These results indicate that skewed XCI may represent another piece in the complex puzzle of CVID genetics.
MeSH term(s)	Humans ; Female ; Common Variable Immunodeficiency ; Alleles ; Agammaglobulinemia ; Antibodies ; CD40 Ligand ; Chromosomes ; I-kappa B Kinase
Chemical Substances	Antibodies ; CD40 Ligand (147205-72-9) ; IKBKG protein, human ; I-kappa B Kinase (EC 2.7.11.10)
Language	English
Publishing date	2024-01-24
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-024-01659-z
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Article ; Online: Respiratory syncytial virus infections requiring hospitalization in patients with primary immunodeficiency.

González-Granado, Luis Ignacio / Martín-Nalda, Andrea / Alsina, Laia / Neth, Olaf / Santamaría, Manuel / Soler-Palacín, Pere

Anales de pediatria

2022 Volume 96, Issue 6, Page(s) 492–500

Abstract: Introduction: The aim of the study was to assess the incidence of hospital admission due to severe acute respiratory infection by respiratory syncytial virus (RSV-ARI) in children with primary immunodeficiencies (PIDs) and the severity of RSV-ARI in ... ...

Abstract	Introduction: The aim of the study was to assess the incidence of hospital admission due to severe acute respiratory infection by respiratory syncytial virus (RSV-ARI) in children with primary immunodeficiencies (PIDs) and the severity of RSV-ARI in these patients. Methods: We conducted a nationwide cross-sectional retrospective and prospective multicentre study in the 2011-2017 period. The study was performed in 15 Spanish hospitals and included children with PID who required hospital admission due to RSV-ARI. Results: Out of 439 patients with PID followed up at participating hospitals, 13 (3%) required hospital admission due to RSV-ARI. The median age of admitted patients was 1.6 years (interquartile range, 0.5-2.2), and 7 were male. The types of PID most frequently associated with admission due to RSV-ARI were combined immunodeficiency (CID; 4/71; 6%) and CID with associated or syndromic features (CIDwASF; 6/147; 4%). Two of the 13 patients were receiving palivizumab for RSV prophylaxis, and 3 received potentially active therapies against RSV during the hospital stay. Viral coinfection was detected in 6 patients, 5 (39%) developed complications, and 4 (31%) required admission to the paediatric intensive care unit. There were no documented RSV-related deaths. Conclusions: In the group of patients with PID, severe RSV infection requiring hospitalization is more frequent in patients with CID and CIDwASF, in whom special efforts should be made to prevent RSV infection. Further studies are needed to confirm these results.
MeSH term(s)	Child ; Cross-Sectional Studies ; Female ; Hospitalization ; Humans ; Infant ; Male ; Prospective Studies ; Respiratory Syncytial Virus Infections/prevention & control ; Respiratory Syncytial Virus Infections/therapy ; Respiratory Syncytial Virus, Human ; Retrospective Studies
Language	English
Publishing date	2022-05-28
Publishing country	Spain
Document type	Journal Article ; Multicenter Study
ZDB-ID	2830901-7
ISSN	2341-2879 ; 2341-2879
ISSN (online)	2341-2879
ISSN	2341-2879
DOI	10.1016/j.anpede.2022.03.002
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Article ; Online: Impact of an outpatient parenteral antimicrobial treatment (OPAT) as part of a paediatric-specific PROA program.

Fernández-Polo, Aurora / Ramon-Cortes, Sonia / Plaja-Dorca, Judith / Bartolomé-Comas, Rosa / Vidal-Valdivia, Lis / Soler-Palacín, Pere

Enfermedades infecciosas y microbiologia clinica (English ed.)

2022 Volume 41, Issue 4, Page(s) 230–234

Abstract: Introduction: Outpatient parenteral antimicrobial treatment (OPAT) is an alternative to in-patient care in carefully selected patients. This study presents a self-administration OPAT program integrated within the pediatric antibiotic stewardship program ...

Abstract	Introduction: Outpatient parenteral antimicrobial treatment (OPAT) is an alternative to in-patient care in carefully selected patients. This study presents a self-administration OPAT program integrated within the pediatric antibiotic stewardship program (ASP) in a pediatric tertiary care center. Material and methods: Descriptive, retrospective and unicentric study. Data from all patients under 20 years of age who were prescribed treatment by a pediatric unit during 2019 and 2020 were included. Data regarding number of saved beds and estimating the opportunity cost of the OPAT program for the hospital were analyzed. Results: Fifty-seven patients received 106 episodes of treatment. Favorable clinical outcome occurred in 74.5% of the episodes. The main cause of premature interruption was unfavorable clinical outcome of the infection (37.1%). A total of 2.62 beds/day were saved, resulting in an economic benefit of 1,069,963 €. Conclusion: A self-administration OPAT program integrated within the pediatric ASP has proven to be safe and effective and provides economic benefits.
MeSH term(s)	Humans ; Child ; Outpatients ; Anti-Bacterial Agents/therapeutic use ; Retrospective Studies ; Anti-Infective Agents/therapeutic use ; Ambulatory Care/methods
Chemical Substances	Anti-Bacterial Agents ; Anti-Infective Agents
Language	English
Publishing date	2022-08-10
Publishing country	Spain
Document type	Journal Article
ISSN	2529-993X
ISSN (online)	2529-993X
DOI	10.1016/j.eimce.2022.08.004
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Article ; Online: Increased RSV-A Bronchiolitis Severity in RSV-Infected Children Admitted to a Reference Center in Catalonia (Spain) Between 2014 and 2018.

Vila, Jorgina / Lera, Esther / Peremiquel-Trillas, Paula / Andrés, Cristina / Martínez, Laia / Barceló, Irene / Carsi, Ariadna / Balcells, Joan / Ángel Rodrigo-Pendás, José / Soler-Palacín, Pere / Rodrigo, Carlos / Antón, Andrés

Journal of the Pediatric Infectious Diseases Society

2023 Volume 12, Issue 3, Page(s) 180–183

Abstract: ... relative risk (aRR) = 1.44, p < 0.01) and respiratory support (aRR = 1.07, p < 0.01) more often; hospital stay ... was one day longer (p < 0.01). Subgroup identification may aid clinical evaluation and seasonal ...

Abstract	Between 2014 and 2018, we evaluated the severity of 687 cases of bronchiolitis caused by respiratory syncytial virus (RSV) in Catalonia, Spain. Compared to RSV-B, RSV-A cases required intensive care (adjusted relative risk (aRR) = 1.44, p < 0.01) and respiratory support (aRR = 1.07, p < 0.01) more often; hospital stay was one day longer (p < 0.01). Subgroup identification may aid clinical evaluation and seasonal healthcare planning.
MeSH term(s)	Bronchiolitis, Viral/diagnosis ; Bronchiolitis, Viral/epidemiology ; Respiratory Syncytial Virus, Human ; Respiratory Syncytial Virus Infections/diagnosis ; Respiratory Syncytial Virus Infections/epidemiology ; Spain/epidemiology ; Humans ; Male ; Female ; Hospitalization ; Retrospective Studies
Language	English
Publishing date	2023-02-06
Publishing country	England
Document type	Journal Article
ZDB-ID	2668791-4
ISSN	2048-7207 ; 2048-7193
ISSN (online)	2048-7207
ISSN	2048-7193
DOI	10.1093/jpids/piad009
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Article ; Online: Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Batlle-Masó, Laura / Rivière, Jacques G / Franco-Jarava, Clara / Martín-Nalda, Andrea / Garcia-Prat, Marina / Parra-Martínez, Alba / Aguiló-Cucurull, Aina / Castells, Neus / Martinez-Gallo, Mónica / Soler-Palacín, Pere / Colobran, Roger

Journal of clinical immunology

2023 Volume 43, Issue 8, Page(s) 1953–1963

Abstract: Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce reactive oxygen species. CGD is caused by defects in genes encoding subunits of the NADPH oxidase enzyme ... ...

Abstract	Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce reactive oxygen species. CGD is caused by defects in genes encoding subunits of the NADPH oxidase enzyme complex (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4); inflammatory responses are dysregulated, and patients are highly susceptible to recurrent severe bacterial and fungal infections. X-linked CGD (XL-CGD), caused by mutations in the CYBB gene, is the most common and severe form of CGD. In this study, we describe the analytical processes undertaken in 3 families affected with XL-CGD to illustrate several molecular challenges in the genetic diagnosis of this condition: in family 1, a girl with a heterozygous deletion of CYBB exon 13 and skewed X-chromosome inactivation (XCI); in family 2, a boy with a hemizygous deletion of CYBB exon 7, defining its consequences at the mRNA level; and in family 3, 2 boys with the same novel intronic variant in CYBB (c.1151 + 6 T > A). The variant affected the splicing process, although a small fraction of wild-type mRNA was produced. Their mother was a heterozygous carrier, while their maternal grandmother was a carrier in form of gonosomal mosaicism. In summary, using a variety of techniques, including an NGS-based targeted gene panel and deep amplicon sequencing, copy number variation calling strategies, microarray-based comparative genomic hybridization, and cDNA analysis to define splicing defects and skewed XCI, we show how to face and solve some uncommon genetic mechanisms in the diagnosis of XL-CGD.
MeSH term(s)	Male ; Female ; Humans ; Mosaicism ; Granulomatous Disease, Chronic/diagnosis ; Granulomatous Disease, Chronic/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Mutation/genetics ; RNA, Messenger ; Chromosomes
Chemical Substances	RNA, Messenger
Language	English
Publishing date	2023-08-19
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-023-01556-x
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Article ; Online: The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation.

Baumann, Ulrich / Routes, John M / Soler-Palacín, Pere / Jolles, Stephen

Frontiers in immunology

2018 Volume 9, Page(s) 1837

Abstract: Immunoglobulin replacement therapy (IGRT) has contributed critically to the management of primary antibody deficiencies (PAD) and the decrease in pneumonia rate. However, despite adequate IGRT and improved prognosis, patients with PAD continue to ... ...

Abstract	Immunoglobulin replacement therapy (IGRT) has contributed critically to the management of primary antibody deficiencies (PAD) and the decrease in pneumonia rate. However, despite adequate IGRT and improved prognosis, patients with PAD continue to experience recurrent respiratory tract infections, leading to bronchiectasis and continuing decline in lung function with a severe impact on their quality of life. Moreover, non-infectious inflammatory and interstitial lung complications, such as granulomatous-lymphocytic interstitial lung disease, contribute substantially to the overall morbidity of PAD. These conditions develop much more often than appreciated and represent a major therapeutic challenge. Therefore, a regular assessment of the structural and functional condition of the lung and the upper airways with appropriate treatment is required to minimize the deterioration of lung function. This work summarizes the knowledge on lung complications in PAD and discusses the currently available diagnostic tools and treatment options.
MeSH term(s)	Animals ; Humans ; Immunity ; Immunization, Passive ; Immunoglobulins, Intravenous ; Immunologic Deficiency Syndromes/complications ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/therapy ; Infection/etiology ; Inflammation/etiology ; Lung/diagnostic imaging ; Lung/immunology ; Lung/pathology ; Respiratory System/immunology ; Respiratory System/metabolism ; Respiratory System/pathology ; Respiratory Tract Infections/diagnosis ; Respiratory Tract Infections/etiology
Chemical Substances	Immunoglobulins, Intravenous
Language	English
Publishing date	2018-08-08
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2018.01837
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