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Report of 2 cases" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "336" "paginaFinal" => "337" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Pilar Caudevilla Lafuente, Silvia Izquierdo-Álvarez, José Ignacio Labarta Aizpún" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Pilar" "apellidos" => "Caudevilla Lafuente" "email" => array:1 [ 0 => "pcaudevillalafuente@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Silvia" "apellidos" => "Izquierdo-Álvarez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "José Ignacio" "apellidos" => "Labarta Aizpún" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Sección de Genética Clínica, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Osteogénesis imperfecta causada por mutación en los genes <span class="elsevierStyleItalic">COL1A1, CRTAP</span> y <span class="elsevierStyleItalic">LEPRE1</span>. Estudio de 2 casos" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Osteogenesis imperfecta (OI) is a heterogeneous group of inherited connective tissue disorders characterized by deformities and bone fragility.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">OI phenotypes were originally classified in 1979 (Sillence), a classification that was subsequently reviewed combining clinical findings, severity and the genes involved (van Dijk).<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Most cases of OI are inherited in an autosomal dominant manner and are caused by <span class="elsevierStyleItalic">COL1A1</span> or <span class="elsevierStyleItalic">COL1A2 gene mutations.</span> In recent years, several cases have been identified whose mutations cause severe recessive forms.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The most severe forms often show prenatal abnormalities, such as shortening of long bones and signs of bone dysplasia.</p><p id="par0025" class="elsevierStylePara elsevierViewall">We present 2 cases of severe forms of OI. Case 1 is that of a female patient with prenatal suspicion of bone dysplasia: she is the first daughter of healthy parents with no parental consanguinity and without a family history of bone diseases or previous abortions.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Case 2 is that of a female patient with prenatal suspicion of bone dysplasia. She is the first daughter of healthy parents with third degree consanguinity, originally from Algeria. Three previous abortions (one of them showed severe skeletal dysplasia). With no family history of fractures or short stature. The main clinical, radiological, genetic and treatment characteristics of the 2 cases appear in <a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Case 2 presented significant bone deformities that hindered the patient's mobility and which resulted in a clinical condition of greater severity than case 1.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Both cases received corrective surgery of lower limb deformities on 2 occasions and they continue treatment with intravenous pamidronate in cycles every 2–3 months and oral vitamin D<span class="elsevierStyleInf">3</span>.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Both cases showed signs of bone dysplasia in the prenatal ultrasounds, and at birth with a length<span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>p5, with normal weight and head circumference (relative macrocephaly) and multiple fractures that were manifest in important deformities in the extremities.</p><p id="par0050" class="elsevierStylePara elsevierViewall">In patient 1, grayish scleras were observed, while in patient 2 this sign was less evident, as described in those cases of OI due to mutations in the <span class="elsevierStyleItalic">LEPRE1 gene</span>.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">About 90% of OI cases are caused by structural or quantitative mutations in the <span class="elsevierStyleItalic">COL1A1</span> and <span class="elsevierStyleItalic">COL1A2</span> genes, which encode the chains α1 and α2 of type 1 collagen, the most abundant extracellular matrix protein of bone, skin and tendons. More than 1000 different pathogenic variants have been described in these genes.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Of the 10% remaining OI cases with a clinical diagnosis of lethal to moderate, approximately 2–5% show an autosomal recessive inheritance (AR) pattern, for which various different genes have been characterized: <span class="elsevierStyleItalic">CRTAP, LEPRE1, PPIB, SP7/OSX, SERPINH1, FKBP10, SERPINF1 and BMP1/mTLD</span>.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">In case 1, after the study of a Next Generation Sequencing (NGS) panel of 10 genes associated with OI (<span class="elsevierStyleItalic">COL1A1, COL1A2, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SP7, PLOD2</span> and <span class="elsevierStyleItalic">SERPINF1</span>) the pathogenic heterozygous variant <span class="elsevierStyleItalic">c.3118G</span>>c.3118G>A (p.Gly1040Ser) was found in the gene <span class="elsevierStyleItalic">COL1A1 (NM_000088.3).</span> This has previously been described in the databases consulted (HGMD, LOVD) as a pathogenic variant associated with type II OI, and as a variant of uncertain significance (VUS) <span class="elsevierStyleItalic">c.1039C</span>>c.1039C>T (p.Leu347Phe) in the gene <span class="elsevierStyleItalic">CRTAP</span><span class="elsevierStyleItalic">(NM_006371.4)</span> which had not been previously published (HGMD, LOVD). At the time of diagnosis it was associated with the clinical symptoms presented by the patient, but the <span class="elsevierStyleItalic">in silico</span> predictive algorithms used (SIFT, MutationTaster and PolyPhen-2) indicated a probable pathogenic effect of the said variant. The sequence in the <span class="elsevierStyleItalic">COL1A1</span> gene is associated with an autosomal dominant inheritance pattern of severe phenotype. The mutations in the <span class="elsevierStyleItalic">CRTAP</span> gene are often related to an AR inheritance pattern. However, we believe that this variant associated with that of the <span class="elsevierStyleItalic">COL1A1</span> gene could have an overlapping digenic effect that would justify a greater degree of severity than expected. The harvesting study was performed on the <span class="elsevierStyleItalic">COL1A1</span> gene with no findings of the pathogenic variant in the parents (32 and 35 years respectively), which would confirm that it is a <span class="elsevierStyleItalic">de novo</span> variant, without being able to rule out the possibility of germinal mosaicism.</p><p id="par0070" class="elsevierStylePara elsevierViewall">In the NGS study of 10 genes associated to OI, case 2 presented 2 heterozygous variants in the <span class="elsevierStyleItalic">LEPRE1 (NM_022356.3) gene</span> (c.1080+1G>T and c.35T>G, p.Leu12Arg in exon 1) with an AR inheritance pattern. The most frequent pathogenic variants of the <span class="elsevierStyleItalic">LEPRE1</span> gene are c.1080+1G>T and IVS5+1G>T. The c.35T variant<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>G, p.Leu12Arg in the <span class="elsevierStyleItalic">LEPRE1</span> gene has not been described previously in literature, but the <span class="elsevierStyleItalic">in silico</span> predictive algorithms (Align GVGD, SIFT, Mutation Taster) indicated a neutral effect on protein functionality as a result of the presence of this variant, which is why it is classified as VUS. The c.1080+1G>T heterozygous variant in the <span class="elsevierStyleItalic">LEPRE1</span> gene is located in the essential donor <span class="elsevierStyleItalic">splicing</span> site of the intron 5 and it has previously been described in the main databases consulted (HGMD, LOVD) as a pathogenic variant associated with type VIII OI (severe/lethal), being AR both in homozygosis and in compound heterozygosis. Additionally, the <span class="elsevierStyleItalic">in silico</span> predictive algorithms used (MaxEntScan, NNSPLICE, Human Splicing Finder and SpliceSite Finder-like) classify it as a variant with pathogenic effect. The harvesting study of the parents confirmed the presence in heterozygosis of the variants c.1080+1G>T (father) and c.35T>G (mother) and that they were in the trans position in case 2.</p><p id="par0075" class="elsevierStylePara elsevierViewall">Also, the c.969C variant>T, in heterozygosis, in exon 7, was detected in the gene <span class="elsevierStyleItalic">SERPINF1 (NM_002615.5)</span>, and this has not previously been observed in the main databases consulted (HGMD, LOVD), but the <span class="elsevierStyleItalic">in silico</span> predictive algorithms (MaxEntScan, GeneSplicer, Human Splicing Finder and SpliceSite Finder-like) indicated that it was unlikely that this variant would affect the <span class="elsevierStyleItalic">splicing</span> during the messenger RNA processing, so it was classified as VUS. We believe that a greater degree of clinical involvement is possible due to the association of these 3 gene variants, which would justify the clinical diagnosis of suspicion in the patient.</p><p id="par0080" class="elsevierStylePara elsevierViewall">The deterioration of lung function is the main cause of morbidity and mortality in OI. Respiratory distress in the neonatal period is associated with the severity of the disease and it was only present in case 2.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Bisphosphonate treatment aims to increase bone density and reduce the rate of fractures. Both cases showed an obvious clinical improvement with a decrease in bone pain and the number of fractures: they presented 2 and 6, respectively. The possibility of a worse response to bisphosphonate treatment in patients with variants in <span class="elsevierStyleItalic">SERPINF1</span><a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> has been published. Case 2 has presented a good response to treatment.</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: Caudevilla Lafuente P, Izquierdo-Álvarez S, Labarta Aizpún JI. Osteogénesis imperfecta causada por mutación en los genes <span class="elsevierStyleItalic">COL1A1, CRTAP</span> y <span class="elsevierStyleItalic">LEPRE1</span>. A propósito de 2 casos. Med Clin (Barc). 2019;153:336–337.</p>" ] ] "multimedia" => array:1 [ 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">PE: physical examination; GA: gestational age; PM: perimeter; NB: newborn; SDS: <span class="elsevierStyleItalic">standard deviation score</span>; wGA: weeks of gestational age; VUS: variant of unknown significance.</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="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 1 \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 2 \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Prenatal Findings (GA) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Bone shortening (20 wGA), ulna, radius and humerus between p5 and p10, bowing and shortened femurs in p1 and slight brachycephaly (32 wGA) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Prenatal suspicion of bone dysplasia (no prenatal ultrasound data) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NB weight (SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">2840<span class="elsevierStyleHsp" style=""></span>g (−0.4 SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">2750<span class="elsevierStyleHsp" style=""></span>g (−1.5 SDS) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NB length (SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">44<span class="elsevierStyleHsp" style=""></span>cm (−2.8 SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">39<span class="elsevierStyleHsp" style=""></span>cm (−5.7 SDS) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Cephalic PM NB (SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">35<span class="elsevierStyleHsp" style=""></span>cm (1.3 SDS) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">33<span class="elsevierStyleHsp" style=""></span>cm (−1.1 SDS) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NB phenotype \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Relative macrocephaly, wide fontanelle, broad forehead, gray scleras \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Wide face, bulging forehead, elongated palpebral fissures, long philtrum, broad anterior fontanelle, gray scleras \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">PE NB findings \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Deformity and shortening of long bones, irritability and crying when manipulated (pain). No respiratory distress \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Short chest, multiple deformities of long bones and skull, bone crepitation. Intermittent tachypnea, subcostal retraction and transient hypoxemia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NB radiological study \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Widening and bowing of both femurs, arched and with multiple fractures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Multiple fractures, widening of the costal margin, bone curvature (sign of previous fractures) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Number of NB fractures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">9 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">18 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NB fracture location \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Femur (5), tibia (1), fibula (1), humerus (1), clavicle (1) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Humerus (3), radius (2), femur (2), tibia (2), fibula (2), ulna (1), parietal (1), chin (1), jaw (1), clavicles, costal margin \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Total fractures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">11 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">24 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Location of posterior fractures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Femur (2) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Ulna (1), humerus (1), femur (4) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">NGS panel genetic study \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">c.3118 G>A ((p.Gly1040Ser) gene <span class="elsevierStyleItalic">COL1A1-pathogenic variant</span> c.1039C>T (<span class="elsevierStyleItalic">p.Leu347Phe</span>) gene <span class="elsevierStyleItalic">CRTAP-VUS</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">c.1080+1GT, intron 5, gene <span class="elsevierStyleItalic">LEPRE1-pathogenic variant</span>c.35T>G (<span class="elsevierStyleItalic">p.Leu12Arg</span>) exon 1, gene <span class="elsevierStyleItalic">LEPRE1-VUS</span> c.969C>T (<span class="elsevierStyleItalic">p.Gly323Gly</span>) exon 7, gene <span class="elsevierStyleItalic">SERPINF1-VUS</span> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Treatment with bisphosphonates \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Intravenous Pamidronate \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Intravenous Pamidronate \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Dose of bisphosphonates \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0.5<span class="elsevierStyleHsp" style=""></span>mg/kg daily, 3 days every 2 months \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">0.5<span class="elsevierStyleHsp" style=""></span>mg/kg daily, 3 days every 2 months \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Age when bisphosphonates started \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">28 days of life \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">9 days of life \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Duration of bisphosphonates \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Continues with treatment (current age 4 years and 9 months) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Continues with treatment (current age 5 years and 1 month) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Evolution \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Clinical improvement of irritability, decrease in the number of fractures \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Clinical improvement of irritability, decrease in the number of fractures \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2148583.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical, radiological, genetic findings and treatment of patients with OI.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Osteogenesis imperfecta" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A. Forlino" 1 => "J.C. Marini" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/S0140-6736(15)00728-X" "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "2016" "volumen" => "387" "paginaInicial" => "1657" "paginaFinal" => "1671" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26542481" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0035" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "F.S. Van Dijk" 1 => "D.O. 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López-González" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/1750-1172-8-1" "Revista" => array:6 [ "tituloSerie" => "Orphanet J Rare Dis" "fecha" => "2013" "volumen" => "8" "paginaInicial" => "1" "paginaFinal" => "10" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23286897" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0050" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Recessive osteogenesis imperfecta: clinical, radiological and molecular findings" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M. Rochrbach" 1 => "C. Giunta" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Am J Med Genet C" "fecha" => "2012" "paginaInicial" => "175" "paginaFinal" => "189" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000015300000008/v1_201910190847/S2387020619303742/v1_201910190847/en/main.assets" "Apartado" => array:4 [ "identificador" => "43311" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000015300000008/v1_201910190847/S2387020619303742/v1_201910190847/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020619303742?idApp=UINPBA00004N" ]
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Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.
Current Contents/Clinical Medicine, Journal Citation Reports, SCI-Expanded, Index Medicus/Medline, Excerpta Medica/EMBASE, IBECS, IME, MEDES, PASCAL, SCOPUS, SciVerse ScienceDirect
Ver másEl factor de impacto mide la media del número de citaciones recibidas en un año por trabajos publicados en la publicación durante los dos años anteriores.
© Clarivate Analytics, Journal Citation Reports 2022
SJR es una prestigiosa métrica basada en la idea de que todas las citaciones no son iguales. SJR usa un algoritmo similar al page rank de Google; es una medida cuantitativa y cualitativa al impacto de una publicación.
Ver másSNIP permite comparar el impacto de revistas de diferentes campos temáticos, corrigiendo las diferencias en la probabilidad de ser citado que existe entre revistas de distintas materias.
Ver másMedicina Clínica (English Edition) sigue las recomendaciones para la preparación, presentación y publicación de trabajos académicos en revistas biomédicas
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