Pedriatría clínica y enfermedades raras

Carrera S, Rodriguez Martinez AB, Garin I, Sarasola E, Martinez C, Maortua H, et al. Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?. Hered Cancer Clin Pract. 2023; 21(1): 2-2. DOI:10.1186/s13053-023-00246-4.

Vecilla DF, Radigales JR, Vivanco CA, Llanos MIG, Arco JLDTD. Lymphangitis caused by Nocardia brasiliensis after a mosquito bite. An Pediatr (Engl Ed). 2023. DOI:10.1016/j.anpede.2023.08.005.

Gutierrez Posso JD, Anta Escuredo JA, Aguirre Unceta Barrenechea A, Zabala Lopez de Maturana JA. Importance of congenital cytomegalovirus in the neonatal hearing screening program. Acta Otorrinolaringol Esp (Engl Ed). 2023; 74(6): 346-351. DOI:10.1016/j.otoeng.2022.12.001.

Montero Gato J, Rodeno Fernandez L, Serna Guerediaga I, Aguirre Barrenechea A, Aguirre Conde A, Perez Legorburu A. Response to the letter entitled: "Ultrasound of pneumothorax in neonates: Diagnostic value of the anterior transverse plane and of mirrored ribs: Methodological issues". Pediatr Pulmonol. 2022; 57(9): 2259-2260. DOI:10.1002/ppul.25976.

Oulego Erroz I, Alonso Ojembarrena A, Aldecoa Bilbao V, Bravo MD, Montero Gato J, Mosqueda Pena R, et al. Ultrasound-guided vascular access in the neonatal intensive care unit: a nationwide survey. Eur J Pediatr. 2022; 181(6): 2441-2451. DOI:10.1007/s00431-022-04400-3.

Montero Gato J, Rodeno Fernandez L, Serna Guerediaga I, Aguirre Barrenechea A, Aguirre Conde A, Perez Legorburu A. Ultrasound of pneumothorax in neonates: Diagnostic value of the anterior transverse plane and of mirrored ribs. Pediatr Pulmonol. 2022; 57(4): 1008-1014. DOI:10.1002/ppul.25829.

Fernandez LR, Hernandez RG, Guerediaga IS, Gato JM, Fanjul JR, Bilbao VA, et al. Usefulness of lung ultrasound in the diagnosis and follow-up of respiratory diseases in neonates. An Pediatr (Barc). 2022; 96(3). DOI:10.1016/j.anpedi.2022.01.002.

Perez Rodriguez A, Sarasola E, Perez de Nanclares G, Sagasta A. [Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?]. Rev Esp Patol. 2022; 55 Suppl 1: 16-20. DOI:10.1016/j.patol.2020.02.006.

Garcia Pelaez J, Barbosa Matos R, Lobo S, Dias A, Garrido L, Castedo S, et al. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Lancet Oncol. 2023; 24(1): 91-106. DOI:10.1016/S1470-2045(22)00643-X.

Paja Fano M, Gutierrez Macias A, Garcia Barcina MJ. Non-endocrine hyperaldosteronism. When hormones are supporting players. Endocrinol Diabetes Nutr. 2022; 69(9): 763-766. DOI:10.1016/j.endien.2021.09.004.

Ibanez Sandin MD, Escudero C, Candon Morillo R, Lasa EM, Marchan Martin E, Sanchez Garcia S et al. Oral immunotherapy in severe cow's milk allergic patients treated with omalizumab: real life survey from a Spanish registry. Pediatr Allergy Immunol. 2021; 32(6): 1287-1295. DOI:10.1111/pai.13517.

Buchser D, Medina R, Mayrata E, Gonzalez A, Marban M, Achard V et al. Salvage local treatment for localized radio-recurrent prostate cancer: a narrative review and future perspectives. Future Oncol. 2021; 17(31): 4207-4219. DOI:10.2217/fon-2021-0320.

de las Heras J, Cano A, Vinuesa A, Montes M, Unceta Suarez M, Arza A et al. Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience. Children (Basel). 2021; 8(11). DOI:10.3390/children8111026.

Alonso Ojembarrena A, Serna Guerediaga I, Aldecoa Bilbao V, Gregorio Hernandez R, Alonso Quintela P, Concheiro Guisan A et al. The Predictive Value of Lung Ultrasound Scores in Developing Bronchopulmonary Dysplasia A Prospective Multicenter Diagnostic Accuracy Study. Chest. 2021; 160(3): 1006-1016. DOI:10.1016/j.chest.2021.02.066.

Lopez Almaraz R, Fernandez Bonet A, Adan R, Olabarri JD, Echebarria Barona A, Garcia Ariza M et al. Fewer Pediatric Cancer Diagnoses during the First Year of the Covid-19 Pandemic: "Truth or Consequence?". Pediatr Blood Cancer. 2021; 68: 391-391

Velasco R, Mintegi S, en representación del Grupo de Trabajo de Formación de la Red de Investigación D, Todos ellos respondieron a la primera encuesta recogieron datos del estudio en Y. Evaluación de la formación en urgencias por parte de los médicos internos residentes de pediatría en España. An Pediatr. 2020; 93(2): 124-127. DOI:10.1016/j.anpedi.2019.06.005.

Velasco R, Gomez B, de la Torre M, Benito J, Mintegi S, Group of Study of Febrile Infant of the Spanish Pediatric Emergency Research G. A positive nitrite test was an independent risk factor for invasive bacterial infections in infants under 90 days of age with fever without source. Acta Paediatr. 2020; 109(11): 2316-2323. DOI:10.1111/apa.15230.

Bardón Cancho EJ, García Morín M, Beléndez C, Velasco P, Benéitez D, Ruiz Llobet A, et al. Update of the Spanish registry of haemoglobinopathies in children and adults. Med Clin. 2020; 155(3): 95-103. DOI:10.1016/j.medcli.2019.10.011.

Arbide del Río N, Solano Iturri JD, García Barcina M, Sarasola Díez E. Generalized arterial calcification in childhood: A case report. Rev Esp Patol. 2020; 53(3): 193-196. DOI:10.1016/j.patol.2019.02.005.

Rekondo Olaetxea J, Manzanal Rey A, Garcia Ibarrondo N, Atucha Fernandez JA, Merino Fernandez S. Antithrombin deficiency as a cause of aortic valve thrombosis in a bicuspid aortic valve. Rev Esp Cardiol (Engl Ed). 2020. DOI:10.1016/j.rec.2020.05.032.

Gomez Iturriaga A, Buchser D, Miguel IS, Marban M, Urresola A, Ezquerro A, et al. MRI detected extaprostatic extension (EPE) in prostate cancer: Do all T3a patients have the same outcomes?. Clin Transl Radiat Oncol. 2020; 24: 135-139. DOI:10.1016/j.ctro.2020.08.002.

Trevino SJ, Muncunill GP, Martin Masot R, Martinez AR, Canton OS, Quintana LP, et al. Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Espanola de Gastroenterologia, Hepatologia y Nutricion Pediatrica. Front Pediatr. 2020; 8: 584278-584278. DOI:10.3389/fped.2020.584278.

Yanez L, de Ceniga MV, Blanco J, Gonzalez A, Estallo L. Combined treatment of dysphagia lusoria and concomitant ipsilateral carotid artery stenosis. Angiologia. 2020; 72(5): 269-272. DOI:10.20960/angiologia.00143.

Mintegi S, Azkunaga B, Prego J, Qureshi N, Dalziel SR, Arana Arri E, et al. International Epidemiological Differences in Acute Poisonings in Pediatric Emergency Departments. Pediatr Emerg Care. 2019; 35(1): 50-57. DOI:10.1097/PEC.0000000000001031.

Galletebeitia Laka I, Samson F, Gorostiza I, Gonzalez A, Gonzalez C. The utility of clinical ultrasonography in identifying distal forearm fractures in the pediatric emergency department. Eur J Emerg Med. 2019; 26(2): 118-122. DOI:10.1097/MEJ.0000000000000509.

Arístegui Fernández J, González Pérez Yarza E, Mellado Peña MJ, Rodrigo Gonzalo de Liria C, Hernández Sampelayo T, García JJ, et al. Child hospital admissions associated with influenza virus infection in 6 Spanish cities (2014-2016). An Pediatr. 2019; 90(2): 86-93. DOI:10.1016/j.anpedi.2018.06.012.

Zenarruzabeitia O, Vitallé J, Terrén I, Orrantia A, Astigarraga I, Dopazo L, et al. CD300c costimulates IgE-mediated basophil activation, and its expression is increased in patients with cow's milk allergy. J Allergy Clin Immunol. 2019; 143(2): 700-7115. DOI:10.1016/j.jaci.2018.05.022.

Zugazabeitia Irazabal A, Herrero Goni. Short-term outcomes in controlled donation after circulatory death (dcd) pediatric kidney trasplant. Pediatr Nephrol. 2019; 34(5): 746-746

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, et al. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet. 2019; 105(1): 151-165. DOI:10.1016/j.ajhg.2019.05.016.

Fernandez Cooke E, Barrios Tascon A, Sanchez Manubens J, Anton J, Grasa Lozano CD, Aracil Santos J, et al. Epidemiological and clinical features of Kawasaki disease in Spain over 5 years and risk factors for aneurysm development. (2011-2016): KAWA-RACE study group. PLoS One. 2019; 14(5). DOI:10.1371/journal.pone.0215665.

De la Casa Fages B, Fernández Eulate G, Gamez J, Barahona Hernando R, Morís G, García Barcina M, et al. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. Mov Disord. 2019; 34(10): 1547-1561. DOI:10.1002/mds.27812.

Xiol C, Vidal S, Pascual Alonso A, Blasco L, Brandi N, Pacheco P, et al. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019; 9. DOI:10.1038/s41598-019-48385-w.

Embade N, Cannet C, Diercks T, Gil Redondo R, Bruzzone C, Anso S, et al. NMR-based newborn urine screening for optimized detection of inherited errors of metabolism. Sci Rep. 2019; 9(1): 13067-13067. DOI:10.1038/s41598-019-49685-x.

Rodrigo Armenteros P, Kapetanovic Garcia S, Anton Mendez L, Jose Gomez Muga J, Bedia Del Rio E, Angeles Fernandez Cuesta M, et al. Akinetic mutism and status epilepticus due to Epstein Barr virus encephalitis. Clin Neurol Neurosurg. 2019; 185: 105492-105492. DOI:10.1016/j.clineuro.2019.105492.

Garcia Barcina M, Fernandez Cuesta MA, Barrena B, Santamaria E, Ruiz Espinoza C, Tejada MI, et al. New case of a de novo mutation at ZYMND11 gene resembling the 10p15.3 microdeletion syndrome. Eur J Hum Genet. 2019; 27(1): 956-956

Silverwood RJ, Rutter CE, Mitchell EA, Asher MI, Garcia Marcos L, Strachan DP, et al. Are environmental risk factors for current wheeze in the International Study of Asthma and Allergies in Childhood (ISAAC) phase three due to reverse causation?. Clin Exp Allergy. 2019; 49(4): 430-441. DOI:10.1111/cea.13325.

Munoz Garcia G, Sanchez Martinez de Luna MM, Eskubi Goienetxe I, Arrieta Echeita G, Perez Fernandez JL, Landaluce Lauzurica JI, et al. Design and implementation of an inter-institutional pilot project for the socio-sanitary-educational integration of children with complex chronic diseases and other special needs (EVAI: Integrated care assessment team). Int J Integr Care. 2019; 19(1). DOI:10.5334/ijic.s3451.

Shah PS, Lui K, Reichman B, Norman M, Kusuda S, Lehtonen L, et al. The International Network for Evaluating Outcomes (iNeo) of neonates: evolution, progress and opportunities. Transl Pediatr. 2019; 8(3): 170-170. DOI:10.21037/tp.2019.07.06.

Daniel Grasa C, Anton J, Crespo D, Garcia M, Lopez A, Lirola Cruz MJ, et al. Kawasaki disease in infants 3 months of age and younger: a multicentre Spanish study. Ann Rheum Dis. 2019; 78(2): 289-290. DOI:10.1136/annrheumdis-2018-213891.

De la Casa Fages B, Fernández Eulate G, Gamez J, Barahona Hernando R, Morís G, García Barcina M, et al. Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion". Mov Disord. 2019; 34(12): 1932-1933. DOI:10.1002/mds.27899.

Sanchez C, Hernani MT, Alvarez Calatayud G, Miranda Cid C, Manuel Navas V, Marin Jimenez I, et al. Status of transition care in inflammatory bowel disease in Spain. Different medical perspectives. Rev Esp Enferm Dig. 2019; 111(11): 833-838. DOI:10.17235/reed.2019.6310/2019.

Blázquez Gamero D, Soriano Ramos M, Martínez de Aragón A, Baquero Artigao F, Frick MA, Noguera Julian A, et al. Role of Magnetic Resonance Imaging and Cranial Ultrasonography in Congenital Cytomegalovirus Infection. Pediatr Infect Dis J. 2019; 38(11): 1131-1137. DOI:10.1097/INF.0000000000002455.

Brunekreef B, Von Mutius E, Wong GK, Odhiambo JA, Clayton TO, ISAAC Phase Three Study GRP. Early life exposure to farm animals and symptoms of asthma, rhinoconjunctivitis and eczema: an ISAAC Phase Three Study (vol 41, pg 753, 2012). Int J Epidemiol. 2019; 48(5): 1733-1733. DOI:10.1093/ije/dyz171.

Morales E, Strachan D, Asher I, Ellwood P, Pearce N, Garcia Marcos L, et al. Combined impact of healthy lifestyle factors on risk of asthma, rhinoconjunctivitis and eczema in school children: ISAAC phase III. Thorax. 2019; 74(6): 531-538. DOI:10.1136/thoraxjnl-2018-212668.

Rutter CE, Silverwood RJ, Williams HC, Ellwood P, Asher I, Garcia Marcos L, et al. Are Environmental Factors for Atopic Eczema in ISAAC Phase Three due to Reverse Causation?. J Invest Dermatol. 2019; 139(5): 1023-1036. DOI:10.1016/j.jid.2018.08.035.

Crichton S, Belfrage E, Collins IJ, Doerholt K, Judd A, Le Coeur S, et al. Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand. Aids. 2019; 33(12): 1897-1910. DOI:10.1097/QAD.0000000000002294.