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Papers by Alfonso Solar Boga

Children, Mar 1, 2024

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Acta pediátrica española, 2015

Archivos de la Sociedad Española de Oftalmología, 2003

espanolObjetivo/Metodo: Alertar sobre la deficiencia de galactoquinasa (GK), como posible causa d... more espanolObjetivo/Metodo: Alertar sobre la deficiencia de galactoquinasa (GK), como posible causa de cataratas infantiles, e incluso cataratas preseniles en los heterozigotes portadores. El diagnostico mediante determinacion del enzima y del galactitol, permitiria la introduccion de una dieta exenta de galactosa que previene totalmente el dano. Resultado/Conclusiones: Presentamos una familia espanola de etnia gitana con alto grado de consanguinidad con tres hembras, de fratrias distintas, afectas de deficiencia de GK. La deficiencia es debida a su homozigosis para la mutacion P28T del gen GK1. P28T, con efecto fundador en gitanos Romani europeos, esta tambien presente en los gitanos espanoles. Por ello hay que tener en cuenta que la deficiencia de GK puede ser causa importante de ceguera en dicha poblacion. EnglishObjective/Method: To alert about galactokinase deficiency (GK) as a possible cause of infantile cataracts, and even presenile cataracts in heterozygous carriers. Diagnosis by enzyme and galactitol determination would lead to the introduction of a galactose-free diet which completely prevents the damage. Result/Conclusions: We report on a highly consanguineous Spanish family of gypsy ethnia, with three females of different sibships affected by GK deficiency. The deficiency was due to their homozygosis for mutation P28T in gene GK1. P28T mutation in european Romani gypsies, is also present in Spanish gypsies. It is important to bear in mind that GK deficiency may be an important cause of blindness in that endogamous group.

Anales de Pediatría, 2009

Hemos leı́do con gran interés el artı́culo publicado en Anales de Pediatrı́a por Ávila-Álvarez et... more Hemos leı́do con gran interés el artı́culo publicado en Anales de Pediatrı́a por Ávila-Álvarez et al, titulado "Psoriasis secundaria a tratamiento con infliximab y adalimumab en la enfermedad de Crohn". En este artı́culo se señala el caso presentado como el primero comunicado en edad pediátrica. Previamente tuvimos la oportunidad de publicar (en internet en marzo de 2008 y en papel en octubre del mismo año) un caso similar de psoriasis inducida por infliximab en una niña con enfermedad de Crohn. Creemos que, ante la creciente utilización del tratamiento biológico en pacientes pediátricos, es necesario estar alerta ante la posible aparición de nuevos efectos secundarios. Bibliografı́a

Nutrients

Exclusive enteral nutrition (EEN) is recommended as a first-line therapy to induce remission of C... more Exclusive enteral nutrition (EEN) is recommended as a first-line therapy to induce remission of Crohn’s disease (CD) and is considered as effective as corticosteroid treatment. However, the dietary restriction causes lack of adherence and poor tolerance to the therapy. Partial enteral nutrition (PEN), which allows for the ingestion of some food, could be a better tolerated alternative, but it is unknown whether it is as effective at inducing CD remission as EEN. The aim of this systematic review is to analyze the available evidence on PEN as a remission induction therapy in CD. A literature search was conducted using the MEDLINE (via PUBMED) and Cochrane Library databases following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. Clinical trials in pediatric and adult patients were included. The risk of bias was assessed following the Cochrane Collaboration methodology. The selected studies showed variable but high response rates to PEN and...

Nutrients, 2020

Exclusive enteral nutrition (EEN) has been shown to be more effective than corticosteroids in ach... more Exclusive enteral nutrition (EEN) has been shown to be more effective than corticosteroids in achieving mucosal healing in children with Crohn´s disease (CD) without the adverse effects of these drugs. The aims of this study were to determine the efficacy of EEN in terms of inducing clinical remission in children newly diagnosed with CD, to describe the predictive factors of response to EEN and the need for treatment with biological agents during the first 12 months of the disease. We conducted an observational retrospective multicentre study that included paediatric patients newly diagnosed with CD between 2014–2016 who underwent EEN. Two hundred and twenty-two patients (140 males) from 35 paediatric centres were included, with a mean age at diagnosis of 11.6 ± 2.5 years. The median EEN duration was 8 weeks (IQR 6.6–8.5), and 184 of the patients (83%) achieved clinical remission (weighted paediatric Crohn’s Disease activity index [wPCDAI] < 12.5). Faecal calprotectin (FC) levels...

Acta pediátrica española, 2010

Biocell, 2019

CF (Cystic Fibrosis) is the most common autosomal recessive disease in caucasian population. Inad... more CF (Cystic Fibrosis) is the most common autosomal recessive disease in caucasian population. Inadequate ion transport causes dehydration and the production of thick secretions in organs (most affected: pancreas and lungs). We compare patients between 0-18 years depending on the diagnostic method: neonatal screening (current) versus conventional symptom-oriented diagnosis (prior to 2003). A total of 39 patients (21 boys and 18 girls, median age 8.55 years) were included. 53.8% of the patients were diagnosed by neonatal screening. In the screening group we found greater genetic variability, lower sweat chloride levels, higher vitamin D levels and better nutritional status at time of diagnosis. In their evolution, a better lung function was seen in the screening group. 20.5% of patients present atypical forms of the disease. This group presents milder symptomatology, all of them being sufficient pancreatic at the time of diagnosis. Conclusion : Patients with CF diagnosed through neonat...

Acta pediátrica española, 2012

espanolLa relacion que se establece entre la enfermedad inflamatoria intestinal (EII) y la dieta ... more espanolLa relacion que se establece entre la enfermedad inflamatoria intestinal (EII) y la dieta es compleja. Las publicaciones sobre este aspecto son escasas y contradictorias, aun mas, si cabe, en el ambito de la pediatria. El presente trabajo, en una primera parte, ofrece una revision de la evidencia cientifica existente sobre el discutible papel de la dieta como factor de riesgo o causa de la aparicion de la EII, asi como sobre las consecuencias nutricionales que tiene dicha enfermedad en una poblacion en periodo de desarrollo. La segunda parte de la revision se centra en evaluar la eficacia de la nutricion enteral como tratamiento de la EII, especialmente en la enfermedad de Crohn, y el papel preponderante que en este caso desempena frente al tratamiento farmacologico, asi como su capacidad para revertir las complicaciones derivadas de esta patologia en cuanto al estado nutricional y al crecimiento. EnglishThe link which exists between inflammatory bowel disease (IBD) and diet ...

Revista española de pediatría, 2005

Pharmaceutics, 2021

Background: Up to 30% of patients with pediatric inflammatory bowel disease (IBD) do not respond ... more Background: Up to 30% of patients with pediatric inflammatory bowel disease (IBD) do not respond to anti-Tumor Necrosis Factor (anti-TNF) therapy. The aim of this study was to identify pharmacogenomic markers that predict early response to anti-TNF drugs in pediatric patients with IBD. Methods: An observational, longitudinal, prospective cohort study was conducted. The study population comprised 38 patients with IBD aged < 18 years who started treatment with infliximab or adalimumab (29 responders and nine non-responders). Whole gene expression profiles from total RNA isolated from whole blood samples of six responders and six non-responders taken before administration of the biologic and after two weeks of therapy were analyzed using next-generation RNA sequencing. The expression of six selected genes was measured for purposes of validation in all of the 38 patients recruited using qPCR. Results: Genes were differentially expressed in non-responders and responders (32 before ini...

Journal of Pediatric Gastroenterology & Nutrition, 2020

Objectives: Inflammatory bowel disease (IBD) is more complex in children and they will have to li... more Objectives: Inflammatory bowel disease (IBD) is more complex in children and they will have to live with the disease for much longer. For this reason, it is necessaryto optimizetreatment. Thepolymorphismsassociatedwiththeresponse to anti-tumor necrosis factor (TNF) drugs in adults with IBD have not been analyzed in children. The aim of the study was to identify genetic variants associated with the long-term response to anti-TNF drugs in children with IBD. Methods: An observational, longitudinal, ambispective cohort's study was conducted. We recruited 209 anti-TNF-treated children diagnosed with IBD and genotyped 21 polymorphisms previously studied in adults with Crohn disease (CD) using real-time PCR. The association between single-nucleotide polymorphisms (SNPs) and time-to-failure was analyzed using the log-rank test. Results: After multivariate analysis, 3 SNPs in IL10, IL17A and IL6 were significantly associated with response to anti-TNF treatment among patients diagnosed with CD (rs1800872-HR, 4.749 (95% confidence interval [CI] 1.156-19.517), P value < 0.05; rs2275913-HR, 0.320 [95% CI 0.111-0.920], P value < 0.05; and rs10499563-HR, 0.210 [95% CI 0.047-0.947], P value 0.05, respectively). None of these SNPs were associated with response to infliximab in adults diagnosed with CD. Among patients diagnosed with ulcerative colitis (UC), 1 SNP in LY96 was significantly associated with response to anti-TNF treatment (rs-11465996-HR, 10.220 [95% CI 1.849-56.504] P value < 0.05). Conclusions: Genotyping of these DNA variants before starting treatment may help to identify children who are long-term responders to anti-TNF drugs, and thus tailor treatment of pediatric IBD.

International Journal of Molecular Sciences, 2020

Around a 20–30% of inflammatory bowel disease (IBD) patients are diagnosed before they are 18 yea... more Around a 20–30% of inflammatory bowel disease (IBD) patients are diagnosed before they are 18 years old. Anti-TNF drugs can induce and maintain remission in IBD, however, up to 30% of patients do not respond. The aim of the work was to identify markers that would predict an early response to anti-TNF drugs in pediatric patients with IBD. The study population included 43 patients aged <18 years with IBD who started treatment with infliximab or adalimumab. Patients were classified into primary responders (n = 27) and non-responders to anti-TNF therapy (n = 6). Response to treatment could not be analyzed in 10 patients. Response was defined as a decrease in over 15 points in the disease activity indexes from week 0 to week 10 of infliximab treatment or from week 0 to week 26 of adalimumab treatment. The expression profiles of nine genes in total RNA isolated from the whole-blood of pediatric IBD patients taken before biologic administration and after 2 weeks were analyzed using qPCR...

British Journal of Clinical Pharmacology, 2020

Identifying DNA variants associated with trough serum anti‐tumour necrosis factor (TNF) levels co... more Identifying DNA variants associated with trough serum anti‐tumour necrosis factor (TNF) levels could predict response to treatment in inflammatory bowel disease (IBD). To date, no specific studies have been performed in children. The aim of this study was to identify genetic variants associated with trough serum anti‐TNF levels and whether these variants are differential markers for infliximab and adalimumab.