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involved in endocrine tumorigenesis&#46; To date&#44; more than 125 pathogenic inactivating mutations have been reported&#46; For the majority of the PRKAR1A-negative CNC patients&#44; the genetic cause remains unknown&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4</span></a> In 81&#37; of cases&#44; cutaneous myxomas precede the diagnosis of cardiac myxomas&#44; which are the main cause of death in these patients&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;5</span></a> Therefore&#44; the detection of this skin tumor should always lead the physician to rule out cardiac involvement&#46; Despite histopathology being the gold standard diagnostic test for cutaneous myxomas&#44; high-frequency ultrasonography &#40;US&#41; can play an essential role in the differential diagnosis of these tumors with other dermic and hypodermic lesions&#46; In this case report&#44; the authors describe for the first time the ultrasonographic features of both superficial and subcutaneous myxomas in a patient with CNC&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 20-year-old man with a personal history of surgical excision of various cutaneous lesions &#40;cysts&#44; lipomas and one myxoma&#41; was referred to the present study&#8217;s department for evaluation and treatment of acne&#46; Physical examination revealed facial and labial lentigines&#44; a subcutaneous nodule on the left malar area&#44; as well as multiple pedunculated&#44; velvety&#44; soft&#44; and pink papules located on the trunk&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Gray-scale and color Doppler US examinations of both the subcutaneous nodule and one of the papules located on the right periareolar region &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41; were performed with a MyLab25Gold scanner equipped with a 10&#8211;18&#8239;MHz linear array transducer &#40;Esaote&#44; Genoa&#44; Italy&#41;&#46; High-frequency US of the subcutaneous malar nodule revealed an ill-defined&#44; elongated&#44; heterogeneous&#44; and hypoechoic mass located in the deep dermis and hypodermis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; On the other hand&#44; the US of the right periareolar papule showed a well-defined&#44; round&#44; homogeneous&#44; and hypoechoic lesion located in the superficial dermis with an elevation of the epidermis &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Color and directional power Doppler US showed no increased vascularity in neither of the two lesions&#46; Surgical removal and histopathology of two papules on the trunk confirmed the diagnosis of cutaneous myxomas &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46; The malar lesion was not excised for cosmetic reasons&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">With the diagnosis of CNC&#44; the following tests were performed&#58; echocardiogram&#44; thyroid and testicular US&#44; 24-h urinary free cortisol&#44; plasma insulin-like growth factor-1&#44; and PRKAR1A sequencing&#46; No alterations were found except for the presence of thyroid colloid nodules and the p&#46;Val164Glu<span class="elsevierStyleItalic">fs</span>X5 mutation in the PRKAR1A gene&#44; which was present in the patient but not in his first-grade relatives&#46; Therefore&#44; it was a sporadic case of CNC&#46; The patient is followed regularly in the present study&#8217;s department in order to rule out new-onset associations&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">Carney complex is a rare genodermatosis with more than 600 cases reported worldwide&#46; Many skin manifestations are numbered among its diagnostic criteria&#44; including cutaneous lentiginosis&#44; cutaneous or mucosal myxomas&#44; and multiple blue nevi&#46; Other skin lesions associated with CNC are <span class="elsevierStyleItalic">caf&#233; au lait</span> spots&#44; melanocytic nevi&#44; lipomas&#44; and angiofibroma&#46; After cutaneous lentigines and blue nevi&#44; cutaneous myxomas are the third most frequent skin manifestation &#40;30&#37;&#8211;55&#37; of patients&#41;&#46; They usually present as multiple&#44; asymptomatic&#44; sessile&#44; or pedunculated pink papules located commonly on the eyelid&#44; external ear canal&#44; breast nipples&#44; and genitalia&#46; They can be localized in the dermis&#44; or the subcutaneous layer and they measure less than 1&#8239;cm in diameter&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">On the other hand&#44; cardiac myxomas are the most common noncutaneous lesions found in CNC &#40;20&#37;&#8211;40&#37; of patients&#41;&#46; They can appear early in infancy and occur anywhere in the heart&#46; They present with obstructive&#44; constitutional&#44; or embolic phenomena like strokes&#44; heart failure&#44; or sudden death&#46; They are responsible for more than 50&#37; of the mortality of the disease and considering that 81&#37; of patients with cardiac myxomas have previously presented cutaneous myxomas&#44; the existence of the latter should always lead the physician to rule out cardiac involvement&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4&#44;6</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">While cardiac myxomas sonographically present as pedunculated&#44; atrial&#44; hyperechoic masses&#59; ultrasonography of cutaneous myxomas is yet to be described in the literature&#46; The authors have observed that they show different ecographic features depending on their location in the skin&#46; Superficial myxomas present as well-defined&#44; round&#44; homogeneous&#44; and hypoechoic lesions located in the superficial dermis with an elevation of the epidermis&#46; Instead&#44; subcutaneous myxomas appear as ill-defined&#44; elongated&#44; heterogeneous and hypoechoic masses located in the deep dermis and hypodermis&#46; The sonographic differential diagnosis of superficial myxomas should be made with benign skin tumors such as cysts&#44; dermatofibromas&#44; pilomatrixomas&#44; and neurofibromas&#46; Cysts are well-defined&#44; round&#44; hypoechoic&#44; or anechoic lesions and usually present posterior enhancement and bilateral edge shadowing&#46; Dermatofibromas are ill-defined&#44; hypoechoic and heterogeneous lesions&#46; In the US&#44; pilomatrixomas appear as hypoechoic lesions with well-defined margins and typically present multiple small calcifications and posterior shadowing&#46; Color Doppler US generally reveals a single artery that penetrates the lesion and gives rise to multiple intralesional branches&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Neurofibromas are round&#44; oval-shaped&#44; or fusiform hypoechoic lesions that can show a connection with hypoechoic neural tracts&#46; On the other hand&#44; the sonographic differential diagnosis of subcutaneous myxomas should be made with deeper lesions like abscesses or lipomas&#46; In the US&#44; abscesses appear as heterogeneous fluid collections with irregular margins and increased vascular flow on Color Doppler US in case of active inflammation&#46; Lipomas are usually ovoid&#44; hypoechoic&#44; subcutaneous masses with linear hyperechoic horizontal lines within the lesion&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">In conclusion&#44; despite the fact that distinctive features have not been identified&#44; the authors believe that high-frequency US is a valuable complementary tool in the diagnosis of cutaneous myxomas in patients suspected of CNC&#46; As far as the authors are concerned&#44; this is the first ultrasonographic description of superficial and subcutaneous myxomas&#46; High-frequency ultrasonography also enables the follow-up of those lesions not tributary to surgical treatment&#44; especially the subcutaneous variant in locations such as the face&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Financial support</span><p id="par0045" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Author&#8217;s contributions</span><p id="par0050" class="elsevierStylePara elsevierViewall">Monica Quintana-Codina&#58; Approval of the final version of the manuscript&#59; critical literature review&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; preparation and writing of the manuscript&#59; study conception and planning&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">Marina Corral-Forteza&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Maribel Iglesias-Sancho&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Montse Salleras-Redonnet&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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Case Report
Ultrasonographic features of cutaneous myxomas in a patient with Carney complex
Monica Quintana-Codina
Corresponding author
mquintanacodina@gmail.com

Corresponding author.
, Marina Corral-Forteza, Maribel Iglesias-Sancho, Montse Salleras-Redonnet
Department of Dermatology, Hospital Universitari Sagrat Cor - Grupo Quironsalud, Barcelona, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Carney Complex &#40;CNC&#41; is a rare autosomal dominant neoplasia syndrome characterized by cardiac and cutaneous myxomas&#44; mucocutaneous pigmented lesions &#40;lentigines&#44; blue nevi&#44; and caf&#233; au lait spots&#41;&#44; and multiple endocrine tumors often causing endocrine abnormalities involving various organs&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;3</span></a> The gene PRKAR1A on chromosome 17 &#40;17q22-24&#41; is mutated in more than 70&#37; of cases and about 30&#37; of affected patients carry a <span class="elsevierStyleItalic">de novo</span> mutation&#46; This gene codes for the regulatory subunit type I alpha of the protein kinase A enzyme&#44; which is a key component of the cAMP signaling pathway&#44; involved in endocrine tumorigenesis&#46; To date&#44; more than 125 pathogenic inactivating mutations have been reported&#46; For the majority of the PRKAR1A-negative CNC patients&#44; the genetic cause remains unknown&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4</span></a> In 81&#37; of cases&#44; cutaneous myxomas precede the diagnosis of cardiac myxomas&#44; which are the main cause of death in these patients&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;5</span></a> Therefore&#44; the detection of this skin tumor should always lead the physician to rule out cardiac involvement&#46; Despite histopathology being the gold standard diagnostic test for cutaneous myxomas&#44; high-frequency ultrasonography &#40;US&#41; can play an essential role in the differential diagnosis of these tumors with other dermic and hypodermic lesions&#46; In this case report&#44; the authors describe for the first time the ultrasonographic features of both superficial and subcutaneous myxomas in a patient with CNC&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">A 20-year-old man with a personal history of surgical excision of various cutaneous lesions &#40;cysts&#44; lipomas and one myxoma&#41; was referred to the present study&#8217;s department for evaluation and treatment of acne&#46; Physical examination revealed facial and labial lentigines&#44; a subcutaneous nodule on the left malar area&#44; as well as multiple pedunculated&#44; velvety&#44; soft&#44; and pink papules located on the trunk&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Gray-scale and color Doppler US examinations of both the subcutaneous nodule and one of the papules located on the right periareolar region &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41; were performed with a MyLab25Gold scanner equipped with a 10&#8211;18&#8239;MHz linear array transducer &#40;Esaote&#44; Genoa&#44; Italy&#41;&#46; High-frequency US of the subcutaneous malar nodule revealed an ill-defined&#44; elongated&#44; heterogeneous&#44; and hypoechoic mass located in the deep dermis and hypodermis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; On the other hand&#44; the US of the right periareolar papule showed a well-defined&#44; round&#44; homogeneous&#44; and hypoechoic lesion located in the superficial dermis with an elevation of the epidermis &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Color and directional power Doppler US showed no increased vascularity in neither of the two lesions&#46; Surgical removal and histopathology of two papules on the trunk confirmed the diagnosis of cutaneous myxomas &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46; The malar lesion was not excised for cosmetic reasons&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">With the diagnosis of CNC&#44; the following tests were performed&#58; echocardiogram&#44; thyroid and testicular US&#44; 24-h urinary free cortisol&#44; plasma insulin-like growth factor-1&#44; and PRKAR1A sequencing&#46; No alterations were found except for the presence of thyroid colloid nodules and the p&#46;Val164Glu<span class="elsevierStyleItalic">fs</span>X5 mutation in the PRKAR1A gene&#44; which was present in the patient but not in his first-grade relatives&#46; Therefore&#44; it was a sporadic case of CNC&#46; The patient is followed regularly in the present study&#8217;s department in order to rule out new-onset associations&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">Carney complex is a rare genodermatosis with more than 600 cases reported worldwide&#46; Many skin manifestations are numbered among its diagnostic criteria&#44; including cutaneous lentiginosis&#44; cutaneous or mucosal myxomas&#44; and multiple blue nevi&#46; Other skin lesions associated with CNC are <span class="elsevierStyleItalic">caf&#233; au lait</span> spots&#44; melanocytic nevi&#44; lipomas&#44; and angiofibroma&#46; After cutaneous lentigines and blue nevi&#44; cutaneous myxomas are the third most frequent skin manifestation &#40;30&#37;&#8211;55&#37; of patients&#41;&#46; They usually present as multiple&#44; asymptomatic&#44; sessile&#44; or pedunculated pink papules located commonly on the eyelid&#44; external ear canal&#44; breast nipples&#44; and genitalia&#46; They can be localized in the dermis&#44; or the subcutaneous layer and they measure less than 1&#8239;cm in diameter&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">On the other hand&#44; cardiac myxomas are the most common noncutaneous lesions found in CNC &#40;20&#37;&#8211;40&#37; of patients&#41;&#46; They can appear early in infancy and occur anywhere in the heart&#46; They present with obstructive&#44; constitutional&#44; or embolic phenomena like strokes&#44; heart failure&#44; or sudden death&#46; They are responsible for more than 50&#37; of the mortality of the disease and considering that 81&#37; of patients with cardiac myxomas have previously presented cutaneous myxomas&#44; the existence of the latter should always lead the physician to rule out cardiac involvement&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;4&#44;6</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">While cardiac myxomas sonographically present as pedunculated&#44; atrial&#44; hyperechoic masses&#59; ultrasonography of cutaneous myxomas is yet to be described in the literature&#46; The authors have observed that they show different ecographic features depending on their location in the skin&#46; Superficial myxomas present as well-defined&#44; round&#44; homogeneous&#44; and hypoechoic lesions located in the superficial dermis with an elevation of the epidermis&#46; Instead&#44; subcutaneous myxomas appear as ill-defined&#44; elongated&#44; heterogeneous and hypoechoic masses located in the deep dermis and hypodermis&#46; The sonographic differential diagnosis of superficial myxomas should be made with benign skin tumors such as cysts&#44; dermatofibromas&#44; pilomatrixomas&#44; and neurofibromas&#46; Cysts are well-defined&#44; round&#44; hypoechoic&#44; or anechoic lesions and usually present posterior enhancement and bilateral edge shadowing&#46; Dermatofibromas are ill-defined&#44; hypoechoic and heterogeneous lesions&#46; In the US&#44; pilomatrixomas appear as hypoechoic lesions with well-defined margins and typically present multiple small calcifications and posterior shadowing&#46; Color Doppler US generally reveals a single artery that penetrates the lesion and gives rise to multiple intralesional branches&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Neurofibromas are round&#44; oval-shaped&#44; or fusiform hypoechoic lesions that can show a connection with hypoechoic neural tracts&#46; On the other hand&#44; the sonographic differential diagnosis of subcutaneous myxomas should be made with deeper lesions like abscesses or lipomas&#46; In the US&#44; abscesses appear as heterogeneous fluid collections with irregular margins and increased vascular flow on Color Doppler US in case of active inflammation&#46; Lipomas are usually ovoid&#44; hypoechoic&#44; subcutaneous masses with linear hyperechoic horizontal lines within the lesion&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">In conclusion&#44; despite the fact that distinctive features have not been identified&#44; the authors believe that high-frequency US is a valuable complementary tool in the diagnosis of cutaneous myxomas in patients suspected of CNC&#46; As far as the authors are concerned&#44; this is the first ultrasonographic description of superficial and subcutaneous myxomas&#46; High-frequency ultrasonography also enables the follow-up of those lesions not tributary to surgical treatment&#44; especially the subcutaneous variant in locations such as the face&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Financial support</span><p id="par0045" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Author&#8217;s contributions</span><p id="par0050" class="elsevierStylePara elsevierViewall">Monica Quintana-Codina&#58; Approval of the final version of the manuscript&#59; critical literature review&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; preparation and writing of the manuscript&#59; study conception and planning&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">Marina Corral-Forteza&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Maribel Iglesias-Sancho&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Montse Salleras-Redonnet&#58; Approval of the final version of the manuscript&#59; data collection&#44; analysis&#44; and interpretation&#59; effective participation in research orientation&#59; intellectual participation in propaedeutic and&#47;or therapeutic management of studied cases&#59; manuscript critical review&#59; study conception and planning&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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            0 => "Carney complex"
            1 => "Myxoma"
            2 => "Skin Diseases&#44; Genetic"
            3 => "Skin neoplasms"
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        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas&#44; among other tumors&#46; In the majority of cases&#44; cutaneous myxomas precede the diagnosis of cardiac myxomas&#44; which are the main cause of death in these patients&#46; Despite the fact that the diagnosis of cutaneous myxomas is histopathological&#44; high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors&#46; The authors of the present study describe&#44; for the first time in the literature&#44; the ultrasonographic features of both variants of cutaneous myxomas&#44; superficial and subcutaneous&#44; in a patient with a Carney complex&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Study conducted at the Department of Dermatology&#44; Hospital Universitari Sagrat Cor&#44; Grupo Quironsalud Calle Viladomat&#44; Barcelona&#44; Spain&#46;</p>"
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Article information
ISSN: 03650596
Original language: English
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Idiomas
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