was read the article
array:25 [ "pii" => "S2341287918300899" "issn" => "23412879" "doi" => "10.1016/j.anpede.2017.06.009" "estado" => "S300" "fechaPublicacion" => "2018-07-01" "aid" => "2282" "copyright" => "Asociación Española de Pediatría" "copyrightAnyo" => "2017" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2018;89:58-9" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1194 "formatos" => array:3 [ "EPUB" => 162 "HTML" => 742 "PDF" => 290 ] ] "Traduccion" => array:1 [ "es" => array:20 [ "pii" => "S1695403317302242" "issn" => "16954033" "doi" => "10.1016/j.anpedi.2017.06.005" "estado" => "S300" "fechaPublicacion" => "2018-07-01" "aid" => "2282" "copyright" => "Asociación Española de Pediatría" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2018;89:58-9" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 2498 "formatos" => array:3 [ "EPUB" => 170 "HTML" => 1647 "PDF" => 681 ] ] "es" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta científica</span>" "titulo" => "Heterogeneidad clínica y genética del hiperinsulinismo congénito" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "58" "paginaFinal" => "59" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Clinical and genetic heterogeneity of congenital hyperinsulinism" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Juncal Reguera Bernardino, Ignacio Oulego Erroz, Jorge Martínez Sáenz de Jubera, Rocío Quiroga González, Laura Regueras Santos" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Juncal" "apellidos" => "Reguera Bernardino" ] 1 => array:2 [ "nombre" => "Ignacio" "apellidos" => "Oulego Erroz" ] 2 => array:2 [ "nombre" => "Jorge" "apellidos" => "Martínez Sáenz de Jubera" ] 3 => array:2 [ "nombre" => "Rocío" "apellidos" => "Quiroga González" ] 4 => array:2 [ "nombre" => "Laura" "apellidos" => "Regueras Santos" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2341287918300899" "doi" => "10.1016/j.anpede.2017.06.009" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287918300899?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403317302242?idApp=UINPBA00005H" "url" => "/16954033/0000008900000001/v2_201807280406/S1695403317302242/v2_201807280406/es/main.assets" ] ] "itemSiguiente" => array:20 [ "pii" => "S2341287918300735" "issn" => "23412879" "doi" => "10.1016/j.anpede.2017.06.007" "estado" => "S300" "fechaPublicacion" => "2018-07-01" "aid" => "2280" "copyright" => "Asociación Española de Pediatría" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2018;89:60-1" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1422 "formatos" => array:3 [ "EPUB" => 129 "HTML" => 972 "PDF" => 321 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Pseudoachondroplasia: Descriptions of a de novo and familial case" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "60" "paginaFinal" => "61" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Seudoacondroplasia: descripción de un caso de novo y otro familiar" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2517 "Ancho" => 1658 "Tamanyo" => 157409 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Boy aged 2 years (case 1) with short stature, brachydactyly with rhizomelia and genu varum.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Dídac Casas-Alba, Anna Fernández López, Esther Gean Molins, Patricia Suero Toledano, Antonio Martínez-Monseny" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Dídac" "apellidos" => "Casas-Alba" ] 1 => array:2 [ "nombre" => "Anna" "apellidos" => "Fernández López" ] 2 => array:2 [ "nombre" => "Esther" "apellidos" => "Gean Molins" ] 3 => array:2 [ "nombre" => "Patricia" "apellidos" => "Suero Toledano" ] 4 => array:2 [ "nombre" => "Antonio" "apellidos" => "Martínez-Monseny" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403317302229" "doi" => "10.1016/j.anpedi.2017.06.003" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403317302229?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287918300735?idApp=UINPBA00005H" "url" => "/23412879/0000008900000001/v2_201807280416/S2341287918300735/v2_201807280416/en/main.assets" ] "itemAnterior" => array:20 [ "pii" => "S2341287918300905" "issn" => "23412879" "doi" => "10.1016/j.anpede.2017.08.006" "estado" => "S300" "fechaPublicacion" => "2018-07-01" "aid" => "2308" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "An Pediatr (Barc). 2018;89:50-7" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 1866 "formatos" => array:3 [ "EPUB" => 154 "HTML" => 1215 "PDF" => 497 ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original Article</span>" "titulo" => "Spanish translation and validation of the EMPATHIC-30 questionnaire to measure parental satisfaction in intensive care units" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "50" "paginaFinal" => "57" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Traducción y validación al español del cuestionario EMPATHIC-30 para medir la satisfacción de los padres en cuidados intensivos" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Francisco Javier Pilar Orive, Jasone Basabe Lozano, Aurora López Zuñiga, Yolanda M. López Fernández, Julene Escudero Argaluza, Jos M. Latour" "autores" => array:6 [ 0 => array:2 [ "nombre" => "Francisco Javier" "apellidos" => "Pilar Orive" ] 1 => array:2 [ "nombre" => "Jasone" "apellidos" => "Basabe Lozano" ] 2 => array:2 [ "nombre" => "Aurora" "apellidos" => "López Zuñiga" ] 3 => array:2 [ "nombre" => "Yolanda M." "apellidos" => "López Fernández" ] 4 => array:2 [ "nombre" => "Julene" "apellidos" => "Escudero Argaluza" ] 5 => array:2 [ "nombre" => "Jos M." "apellidos" => "Latour" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403317303119" "doi" => "10.1016/j.anpedi.2017.08.004" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403317303119?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287918300905?idApp=UINPBA00005H" "url" => "/23412879/0000008900000001/v2_201807280416/S2341287918300905/v2_201807280416/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Clinical and genetic heterogeneity of congenital hyperinsulinism" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "58" "paginaFinal" => "59" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Juncal Reguera Bernardino, Ignacio Oulego Erroz, Jorge Martínez Sáenz de Jubera, Rocío Quiroga González, Laura Regueras Santos" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Juncal" "apellidos" => "Reguera Bernardino" "email" => array:1 [ 0 => "juncalreguera@msn.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Ignacio" "apellidos" => "Oulego Erroz" ] 2 => array:2 [ "nombre" => "Jorge" "apellidos" => "Martínez Sáenz de Jubera" ] 3 => array:2 [ "nombre" => "Rocío" "apellidos" => "Quiroga González" ] 4 => array:2 [ "nombre" => "Laura" "apellidos" => "Regueras Santos" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Pediatría, Complejo Asistencial Universitario de León, León, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Heterogeneidad clínica y genética del hiperinsulinismo congénito" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Congenital hyperinsulinism (CHI) is the most frequent cause of persistent hypoglycaemia in early childhood. It encompasses a heterogeneous group of genetic disorders whose overall incidence amounts to 1 in 30<span class="elsevierStyleHsp" style=""></span>000 to 50<span class="elsevierStyleHsp" style=""></span>000 live births, although the incidence can be as high as 1 in 2500 births in populations with a high rate of inbreeding.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Although neonatal hypoglycaemia is the typical form of CHI, the age at onset and clinical picture are highly variable, and therefore CHI should be included in the differential diagnosis of non-ketotic hypoglycaemia at any age. It should be suspected in cases of persistent non-ketotic hypoglycaemia with abnormally high levels of insulin. The diagnosis of CHI is complicated by the lack of consensus on the biochemical criteria used to define it.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a> Genetic testing identifies the causative mutation in only half of cases. Positron-emission tomography (PET) allows differentiation between focal and diffuse forms of CHI. The management consists of dietary measures and pharmacological treatment, and diazoxide is the first-line drug for treatment of CHI. Adequate glycaemic control is usually achieved in time. There are data suggesting that 50% of patients with CHI have neurologic sequelae secondary to unidentified episodes of hypoglycaemia.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3,4</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">We present the cases of 5 patients with CHI diagnosed and treated in our hospital in the past 6 years. <a class="elsevierStyleCrossRefs" href="#tbl0005">Tables 1 and 2</a> summarise the clinical features at diagnosis and during followup. The causative mutation was identified in 3 patients. One patient had a mutation in the <span class="elsevierStyleItalic">KCNJ11</span> gene, which is associated with the most prevalent and severe form of CHI, and another had the second most frequent mutation (in the <span class="elsevierStyleItalic">ABCC8</span> gene). The third patient had a novel mutation in the <span class="elsevierStyleItalic">GLUD1</span> gene, changes in which are known to cause hyperinsulinism/hyperammonaemia syndrome. All 5 patients required continuous intravenous glucose infusion, whose dose could be tapered off after initiation of treatment with diazoxide. One patient received a diagnosis of hypertrophic cardiomyopathy (HCM). Four patients underwent an F-18 fluoro-L3,4-dihydroxyphenylalanine PET scan, which revealed focal involvement in only one of them. Two patients had psychomotor retardation, associated with polymalformative syndrome in one. A patient with a phenotype compatible with Beckwith-Wiedemann syndrome showed a favourable response to treatment starting at 6 months of age, and diazoxide was thereon tapered off.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The incidence of CHI in our community exceeds the one described in the literature, as it amounts to 1 per 2400 live births. Our sample illustrates the clinical variability of CHI, which reflects the heterogeneity of the genetic causes of these disorders. In some mutations there is a clear genotype-phenotype correlation. If the mutation affects potassium channels, hyperinsulinism is severe, has an early onset, and is mostly refractory to pharmacological treatment. In contrast, mutations leading to changes in glutamate dehydrogenase cause late-onset CHI, which is less severe, and hyperammonaemia.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> The patient corresponding to case 2 had a mutation in this gene, with onset at 14 months and detection of hyperammonaemia, contrary to expectations, detected only on one occasion. He improved on a leucine-free diet, achieving greater stability in blood glucose levels.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Congenital hyperinsulinism is associated with cardiac abnormalities, mainly HCM and ventricular dysfunction. The prevalence of HCM seems increased in the most severe forms of CHI, reaching up to 65% in some case series.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> Some professionals recommend performance of an electrocardiogram and echocardiographic examination in all children with CHI.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> We performed electrocardiograms in all our patients, which detected severe HCM with mild ventricular outflow obstruction in only one patient, a problem that resolved gradually without treatment. We believe that detection of ventricular hypertrophy in a newborn with persistent hypoglycaemia is highly suggestive of CHI, and that awareness of this association could facilitate early diagnosis.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Congenital hyperinsulinism may be associated with several syndromes, and Beckwith-Wiedemann syndrome is the most frequent comorbidity out of the overgrowth disorders.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> In our series, 2 patients had polymalformative syndrome, of who 1 had a phenotype compatible with Beckwith-Wiedemann syndrome.</p><p id="par0035" class="elsevierStylePara elsevierViewall">We detected a single case of focal pancreatic β-cell hypoplasia that could benefit from surgery in the future. Selective partial pancreatectomy in cases with focal hypoplasia would be sufficient for cure of CHI, avoiding the side effects of more aggressive surgical interventions.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">When it came to neurologic outcomes in our case series, CHI was far from being a benign disease. While most patients achieved adequate blood sugar control, neurodevelopmental impairment was common. The use of continuous glucose monitors could play a significant role in the followup of these patients.</p><p id="par0045" class="elsevierStylePara elsevierViewall">In conclusion, we found considerable variability in the phenotypic expression of CHI. Genetic testing and PET are essential to determine the prognosis and the approach to treatment. The prevention of episodes of hypoglycaemia is essential to improve neurodevelopmental outcomes.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Reguera Bernardino J, Oulego Erroz I, Martínez Sáenz de Jubera J, Quiroga González R, Regueras Santos L. Heterogeneidad clínica y genética del hiperinsulinismo congénito. An Pediatr (Barc). 2018;89:58–59.</p>" ] ] "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">CA, cardiac arrest; GIR, glucose infusion rate.</p>" "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="" valign="top" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Age \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Symptoms \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Glycaemia mg/dL \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Insulin μU/mL \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Ammonia μmol/L \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Glucagon test \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Maximum GIR mg/kg/min \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">7 days \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">CA \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">33 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">9.69 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">53 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">26 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">14 months \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Seizures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">36 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">27.74 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">95.1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">15 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">4 days \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Seizures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">40 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">6.86 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">36 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">10.7 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 4 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">3 months \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Apnoea \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">33 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">2.22 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">50 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Positive \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">15 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 5 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">2 days \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">None \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">32 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">18.67 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">43 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Negative \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">19 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1817925.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Characteristics at the time of diagnosis.</p>" ] ] 1 => array:8 [ "identificador" => "tbl0010" "etiqueta" => "Table 2" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at2" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">BWS, Beckwith-Wiedemann syndrome; ON, optic neuropathy; PET, positron emission tomography.</p>" "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="" valign="top" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Gene mutation \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">PET \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Response to diazoxide \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Neurologic manifestations \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Other clinical findings \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleItalic">KCNJ11</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Multifocal pancreas \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Adequate \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Psychomotor retardation<br>Epilepsy \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Bilateral ventricular dysfunction \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleItalic">GLUD1</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Diffuse pancreatic involvement \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Partial<br>Adequate after exclusion of leucine from diet \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Asymptomatic \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Normal \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleItalic">ABCC8</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Adenoma in head of pancreas \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Adequate \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Asymptomatic \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Hypertrophic cardiomyopathy \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 4 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Not identified \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Diffuse involvement of pancreas \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Adequate \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Psychomotor retardation<br>Microcephaly<br>ON \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Polymalformative syndrome \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Case 5 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Results pending \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Not performed yet \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Adequate \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Hypotonia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Polymalformative syndrome compatible with BWS \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1817926.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Clinical characteristics.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hiperinsulinismo congénito. Revisión de 22 casos" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "J. Guerrero-Fernández" 1 => "I. González Casado" 2 => "L. Espinosa Colindres" 3 => "R. Gracia Bouthelier" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "An Pediatr (Barc)" "fecha" => "2006" "volumen" => "65" "paginaInicial" => "22" "paginaFinal" => "31" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hiperinsulinismo congénito: nuestra casuística y revisión de la literatura" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "S. Chahin" 1 => "G. Edinson Guzmán Gómez" 2 => "I. Dussan" 3 => "A. Hoyos-Martínez" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Rev Esp Endocrinol Pediatr" "fecha" => "2014" "volumen" => "5" "paginaInicial" => "29" "paginaFinal" => "36" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0045" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Perspectivas actuales en el tratamiento del hiperinsulinismo congénito" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "J.R. Fernández Lorenzo" 1 => "A. Fernández Marmiesse" 2 => "J. Barreiro Conde" 3 => "M.L. Couce Pico" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Acta Pediatr Esp" "fecha" => "2009" "volumen" => "67" "paginaInicial" => "103" "paginaFinal" => "111" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0050" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "C.A. Stanley" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1210/jc.2015-3651" "Revista" => array:6 [ "tituloSerie" => "J Clin Endocrinol Metab" "fecha" => "2016" "volumen" => "101" "paginaInicial" => "815" "paginaFinal" => "826" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26908106" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0055" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The association of cardiac ventricular hypertrophy with congenital hyperinsulinism" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "I. Banerjee" 1 => "B. Avatapalle" 2 => "A. Petkar" 3 => "M. Skae" 4 => "R. Padidela" 5 => "S. Ehtisham" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1530/EJE-12-0632" "Revista" => array:6 [ "tituloSerie" => "Eur J Endocrinol" "fecha" => "2012" "volumen" => "167" "paginaInicial" => "619" "paginaFinal" => "624" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22894813" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0060" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "T. Huang" 1 => "A. Kelly" 2 => "S.A. Becker" 3 => "M.S. Cohen" 4 => "C.A. Stanley" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Arch Dis Child Fetal Neonatal Ed" "fecha" => "2013" "volumen" => "98" "paginaInicial" => "351" "paginaFinal" => "354" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000008900000001/v2_201807280416/S2341287918300899/v2_201807280416/en/main.assets" "Apartado" => array:4 [ "identificador" => "38181" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000008900000001/v2_201807280416/S2341287918300899/v2_201807280416/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287918300899?idApp=UINPBA00005H" ]
Year/Month | Html | Total | |
---|---|---|---|
2024 November | 5 | 3 | 8 |
2024 October | 39 | 41 | 80 |
2024 September | 36 | 22 | 58 |
2024 August | 53 | 56 | 109 |
2024 July | 38 | 24 | 62 |
2024 June | 45 | 50 | 95 |
2024 May | 39 | 35 | 74 |
2024 April | 42 | 26 | 68 |
2024 March | 44 | 27 | 71 |
2024 February | 36 | 33 | 69 |
2024 January | 19 | 20 | 39 |
2023 December | 28 | 24 | 52 |
2023 November | 32 | 27 | 59 |
2023 October | 42 | 23 | 65 |
2023 September | 34 | 19 | 53 |
2023 August | 29 | 14 | 43 |
2023 July | 36 | 27 | 63 |
2023 June | 35 | 23 | 58 |
2023 May | 35 | 26 | 61 |
2023 April | 19 | 10 | 29 |
2023 March | 42 | 29 | 71 |
2023 February | 25 | 17 | 42 |
2023 January | 18 | 23 | 41 |
2022 December | 47 | 29 | 76 |
2022 November | 52 | 41 | 93 |
2022 October | 52 | 46 | 98 |
2022 September | 18 | 26 | 44 |
2022 August | 36 | 50 | 86 |
2022 July | 34 | 35 | 69 |
2022 June | 23 | 31 | 54 |
2022 May | 31 | 37 | 68 |
2022 April | 32 | 33 | 65 |
2022 March | 45 | 61 | 106 |
2022 February | 36 | 30 | 66 |
2022 January | 36 | 24 | 60 |
2021 December | 41 | 51 | 92 |
2021 November | 37 | 49 | 86 |
2021 October | 49 | 74 | 123 |
2021 September | 38 | 42 | 80 |
2021 August | 31 | 38 | 69 |
2021 July | 29 | 22 | 51 |
2021 June | 39 | 46 | 85 |
2021 May | 38 | 40 | 78 |
2021 April | 83 | 42 | 125 |
2021 March | 43 | 25 | 68 |
2021 February | 25 | 20 | 45 |
2021 January | 35 | 24 | 59 |
2020 December | 32 | 24 | 56 |
2020 November | 23 | 24 | 47 |
2020 October | 25 | 18 | 43 |
2020 September | 26 | 17 | 43 |
2020 August | 22 | 31 | 53 |
2020 July | 23 | 44 | 67 |
2020 June | 22 | 40 | 62 |
2020 May | 19 | 20 | 39 |
2020 April | 21 | 14 | 35 |
2020 March | 24 | 8 | 32 |
2020 February | 20 | 12 | 32 |
2020 January | 27 | 19 | 46 |
2019 December | 20 | 15 | 35 |
2019 November | 19 | 6 | 25 |
2019 October | 36 | 7 | 43 |
2019 September | 24 | 14 | 38 |
2019 August | 27 | 16 | 43 |
2019 July | 28 | 15 | 43 |
2019 June | 40 | 18 | 58 |
2019 May | 58 | 9 | 67 |
2019 April | 73 | 23 | 96 |
2019 March | 46 | 20 | 66 |
2019 February | 47 | 14 | 61 |
2019 January | 51 | 13 | 64 |
2018 December | 44 | 24 | 68 |
2018 November | 73 | 24 | 97 |
2018 October | 79 | 17 | 96 |
2018 September | 38 | 26 | 64 |
2018 June | 0 | 5 | 5 |