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Expanding the genotype of this disease" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "123" "paginaFinal" => "124" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hiperinsulinismo congénito en tres pacientes de la misma familia. Ampliando el genotipo de esta enfermedad" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2050 "Ancho" => 2917 "Tamanyo" => 301742 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Pathophysiology of insulin secretion pancreatic beta cells.</p> <p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Source: J. Guerrero-Fernández et al. Hiperinsulinismo congénito. Revisión de 22 casos.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p> <p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">ADP, adenosine diphosphate; ATP, adenosine triphosphate; GDH, dehydrogenase Glucose 6 P, glucose 6-phosphate; KIR6.2, potassium channel subunit; SCHAD, short-chain-3-hydroxyacyl-CoA dehydrogenase; SUR1, sulfonylurea receptor.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Katia Herrera Azabache, Zoraya Muñoz Bermúdez, David Ferrández Mengual, Ana Pilar Nso-Roca" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Katia" "apellidos" => "Herrera Azabache" ] 1 => array:2 [ "nombre" => "Zoraya" "apellidos" => "Muñoz Bermúdez" ] 2 => array:2 [ "nombre" => "David" "apellidos" => "Ferrández Mengual" ] 3 => array:2 [ "nombre" => "Ana Pilar" "apellidos" => "Nso-Roca" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287921000442?idApp=UINPBA00005H" "url" => "/23412879/0000009500000002/v1_202108070654/S2341287921000442/v1_202108070654/en/main.assets" ] "itemAnterior" => array:20 [ "pii" => "S2341287921001204" "issn" => "23412879" "doi" => "10.1016/j.anpede.2020.09.008" "estado" => "S300" "fechaPublicacion" => "2021-08-01" "aid" => "2972" "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). 2021;95:118-20" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Use of ivabradine in pediatric post-operative junctional ectopic tachycardia" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "118" "paginaFinal" => "120" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Uso de ivabradina en el tratamiento de la taquicardia ectópica de la unión tras cirugía cardiaca" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1891 "Ancho" => 2499 "Tamanyo" => 244072 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Algorithm for the management of postoperative JET.</p> <p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">bpm, beats per minute; HR, heart rate; JET, junctional ectopic tachycardia; PM, pacemaker.</p>" ] ] ] "autores" => array:3 [ 0 => array:2 [ "autoresLista" => "Eduardo López Fernández" "autores" => array:1 [ 0 => array:2 [ "nombre" => "Eduardo" "apellidos" => "López Fernández" ] ] ] 1 => array:2 [ "autoresLista" => "Elena Montañes Delmas, Migual Ángel Granados Ruiz" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Elena" "apellidos" => "Montañes Delmas" ] 1 => array:2 [ "nombre" => "Migual Ángel" "apellidos" => "Granados Ruiz" ] ] ] 2 => array:2 [ "autoresLista" => "Lidia Oviedo Melgares, Victoria Ramos Casado" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Lidia" "apellidos" => "Oviedo Melgares" ] 1 => array:2 [ "nombre" => "Victoria" "apellidos" => "Ramos Casado" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403320303830" "doi" => "10.1016/j.anpedi.2020.09.002" "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/S1695403320303830?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287921001204?idApp=UINPBA00005H" "url" => "/23412879/0000009500000002/v1_202108070654/S2341287921001204/v1_202108070654/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Foramina parietalia permagna: Clinical radiological evaluation of a Spanish family with an undescribed mutation in the <span class="elsevierStyleItalic">ALX4</span> gene" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "121" "paginaFinal" => "122" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Marta Bote Gascón, Carmen Martínez del Río, Adrián García Ron" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Marta" "apellidos" => "Bote Gascón" "email" => array:1 [ 0 => "marta.madrid28@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Carmen" "apellidos" => "Martínez del Río" ] 2 => array:2 [ "nombre" => "Adrián" "apellidos" => "García Ron" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Pediatría y sus Áreas Específicas, Unidad de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Foramina parietalia permagna: evaluación clínico radiológica de una familia española con mutación no descrita en el gen <span class="elsevierStyleItalic">ALX4</span>" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 705 "Ancho" => 1255 "Tamanyo" => 98737 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A) Infarction in both parietal lobes. B) Bilambdoid synostosis associated with foramina parietalia permagna.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The parietal foramina are small openings measuring approximately 1 mm near the sagittal border of the parietal bones. They are a normal variant, unilateral or bilateral, found in up to 60% of the population. The term giant parietal foramina or foramina parietalia permagna (FPP) refers to openings in this region with a diameter greater than 5 mm, and its incidence is much lower (1 per 15,000–25,000 individuals).<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> In fact, this denomination is inaccurate, as small parietal foramina may coexist with giant foramina, and these large openings are not always an enlarged parietal foramen.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Foramina parietalia permagna is a primary ossification defect at the level of the parietal eminence. In young children, it may present as a persistently enlarged posterior fontanelle, with subsequent ossification of a midline bridge during childhood giving rise to the two foramina.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">In most cases, FPP is asymptomatic, although it may be associated with headache, nausea, vomiting or intellectual disability and sometimes to other malformations: craniosynostosis, cortical dysplasia, microcephaly, ear or eye abnormalities, craniofacial dysostosis, syndactyly, multiple exostosis or cerebrovascular abnormalities.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Eighty-five percent of cases are due to genetic variants with an autosomal dominant pattern of inheritance and a high but incomplete penetrance (90%).<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Most of the variants described to date have been in the <span class="elsevierStyleItalic">MSX2</span> (5q35.2) or <span class="elsevierStyleItalic">ALX4</span> (11p11.2) genes. The prevalence of variants in each of these genes is similar, and the clinical presentations are nearly indistinguishable, since both <span class="elsevierStyleItalic">MSX2</span> and <span class="elsevierStyleItalic">ALX4</span> are homeobox genes that encode homeodomain transcription factors involved in skeletal development.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The diagnosis of FPP is based on the family history and physical examination, with the possible addition of imaging tests: the chest radiograph features symmetric lucencies in the parasagittal zone of parietal bones, computed tomography (CT) with 3D reconstruction can demarcate the bony defect and magnetic resonance imaging (MRI) can detect other associated intracranial abnormalities.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The diagnosis is confirmed by the detection of a pathogenic variant using molecular techniques.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Treatment is usually conservative, with options including preventive measures such as cranial orthosis to avoid brain injury. Surgery is reserved for large foramina associated with a high risk of injury: young children who are very active, have seizures or with additional malformations requiring surgery.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Clinical case.</span> We present the pedigree of a Spanish family with 7 members in 4 consecutive generations (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) with a diagnosis of FPP that carried a heterozygous novel variant in the <span class="elsevierStyleItalic">ALX4</span> gene (c.404_405dupG).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">The index case was a newborn girl with a diagnosis of cranial bone defects made by ultrasound in the prenatal period that led to scheduling an elective caesarean delivery. At birth, the infant had an enlarged posterior fontanelle (5 × 5 cm) in the absence of additional craniofacial anomalies, with a normal appearance and a normal neurologic examination. A transfontanellar ultrasound examination ruled out additional malformations, but also detected bilateral echogenic lesions in the parietooccipital region compatible with infarction possibly secondary to trauma, confirmed by means of a cranial MRI (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A). At 3 years of follow-up, the patient remains asymptomatic, with normal neurodevelopment.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">In a younger brother, the diagnosis was made antenatally by MRI, which revealed absence of bone tissue in the parieto-occipital sulcus. In the initial visit to the paediatric neurology unit, the examination revealed frontal bossing with occipital flattening and bone crests in both lambdoid sutures and the parieto-occipital defect on palpation. A CT scan of the calvarium was performed, leading to diagnosis of bilambdoid synostosis associated with FPP (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B). The findings of the neurologic examination were normal. Surgery was performed to correct the craniosynostosis.</p><p id="par0050" class="elsevierStylePara elsevierViewall">The only significant finding in the evaluation of the father was the presence of the parietal openings characteristic of FPP, in the absence of any other manifestation, as was also the case in the other 4 affected members of the family.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Foramina parietalia permagna is a rare and benign disorder. Knowledge of its clinical and genetic characteristics can prevent performance of unnecessary tests and treatments, reducing the anxiety of parents, especially in case of a prenatal diagnosis. When bilateral parietal openings are detected on prenatal ultrasound examinations, investigation of the pedigree is useful for the purpose of identifying other cases in the family that may have gone undetected due to intrafamilial variability or spontaneous closure of the bone defect. The diagnosis can be confirmed through the clinical and radiological evaluation and the detection of changes in the <span class="elsevierStyleItalic">ALX4</span> or <span class="elsevierStyleItalic">MSX2</span> genes in relatives or in the foetus.<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a> The presence of a skull defect in and of itself is not an indication for elective caesarean delivery since, as occurred in the case presented in this article, this intervention does not completely eliminate the risk of trauma secondary to the birth process.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:2 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Bote Gascón M, Martínez del Río C, García Ron A. Foramina parietalia permagna: evaluación clínico radiológica de una familia española con mutación no descrita en el gen ALX4 (c.404_405dupG). An Pediatr (Barc). 2021;95:121–122.</p>" ] 1 => array:2 [ "etiqueta" => "☆☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Previous presentation: this case was presented as a poster at the 66th Congress of the Asociación Española de Pediatría, June 7–9, 2018, Zaragoza, Spain.</p>" ] ] "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 780 "Ancho" => 905 "Tamanyo" => 17037 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Pedigree chart.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 705 "Ancho" => 1255 "Tamanyo" => 98737 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A) Infarction in both parietal lobes. 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2023 September | 70 | 25 | 95 |
2023 August | 56 | 22 | 78 |
2023 July | 81 | 31 | 112 |
2023 June | 64 | 36 | 100 |
2023 May | 76 | 30 | 106 |
2023 April | 40 | 22 | 62 |
2023 March | 64 | 29 | 93 |
2023 February | 62 | 17 | 79 |
2023 January | 61 | 14 | 75 |
2022 December | 62 | 27 | 89 |
2022 November | 74 | 25 | 99 |
2022 October | 78 | 41 | 119 |
2022 September | 78 | 23 | 101 |
2022 August | 68 | 47 | 115 |
2022 July | 48 | 35 | 83 |
2022 June | 44 | 22 | 66 |
2022 May | 59 | 36 | 95 |
2022 April | 40 | 34 | 74 |
2022 March | 58 | 46 | 104 |
2022 February | 67 | 29 | 96 |
2022 January | 58 | 38 | 96 |
2021 December | 48 | 44 | 92 |
2021 November | 65 | 38 | 103 |
2021 October | 91 | 87 | 178 |
2021 September | 72 | 37 | 109 |
2021 August | 155 | 95 | 250 |
2021 July | 49 | 18 | 67 |