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  1. Article ; Online: COVID-19: Fever syndrome and neurological symptoms in a neonate.

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo, B

    Anales de pediatria

    2020  Volume 92, Issue 6, Page(s) 373–374

    Keywords covid19
    Language English
    Publishing date 2020-04-27
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 2830901-7
    ISSN 2341-2879 ; 2341-2879
    ISSN (online) 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpede.2020.04.001
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  2. Article ; Online: COVID-19: síndrome febril y clínica neurológica en neonato.

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo, Begoña

    Anales de pediatria

    2020  Volume 92, Issue 6, Page(s) 373–374

    Title translation COVID-19: Fever syndrome and neurological symptoms in a neonate.
    MeSH term(s) COVID-19 ; Coronavirus Infections/diagnosis ; Coronavirus Infections/physiopathology ; Fever/diagnosis ; Fever/virology ; Humans ; Infant, Newborn ; Male ; Nervous System Diseases/diagnosis ; Nervous System Diseases/virology ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/physiopathology
    Keywords covid19
    Language Spanish
    Publishing date 2020-04-17
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 2830901-7
    ISSN 2341-2879 ; 2341-2879
    ISSN (online) 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpedi.2020.04.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: COVID-19: Fever syndrome and neurological symptoms in a neonate

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo-Agapito, Begoña
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #125537
    Database COVID19

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  4. Article ; Online: COVID 19: SINDROME FEBRIL Y CLÍNICA NEURÓLOGICA EN NEONATO

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Agapito, Begoña Pérez-Moneo-

    Anales de Pediatría

    Keywords covid19
    Publisher Elsevier
    Document type Article ; Online
    DOI 10.1016/j.anpedi.2020.04.012
    Database COVID19

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  5. Article ; Online: COVID-19

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo, B.

    Anales de Pediatría (English Edition)

    Fever syndrome and neurological symptoms in a neonate

    2020  Volume 92, Issue 6, Page(s) 373–374

    Keywords covid19
    Language English
    Publisher Elsevier BV
    Publishing country us
    Document type Article ; Online
    ZDB-ID 2830901-7
    ISSN 2341-2879
    ISSN 2341-2879
    DOI 10.1016/j.anpede.2020.04.001
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: COVID-19

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo, Begoña

    Anales de Pediatría

    síndrome febril y clínica neurológica en neonato

    2020  Volume 92, Issue 6, Page(s) 373–374

    Keywords Pediatrics, Perinatology, and Child Health ; covid19
    Language Spanish
    Publisher Elsevier BV
    Publishing country us
    Document type Article ; Online
    ZDB-ID 2102669-5
    ISSN 1695-4033
    ISSN 1695-4033
    DOI 10.1016/j.anpedi.2020.04.012
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1640: Show issues Location:
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  7. Article: COVID-19: síndrome febril y clínica neurológica en neonato./ [COVID-19: Fever syndrome and neurological symptoms in a neonate]

    Chacón-Aguilar, Rocío / Osorio-Cámara, Juana María / Sanjurjo-Jimenez, Isabel / González-González, Carolina / López-Carnero, Juan / Pérez-Moneo, Begoña

    An Pediatr (Barc)

    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #72482
    Database COVID19

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  8. Article ; Online: Neonatal metabolic acidosis caused by food proteininduced enterocolitis syndrome: a case report.

    Sanjurjo-Jimenez, Isabel / Menéndez Hernando, Cristina / Hidalgo Montes, Inmaculada / Chacón Aguilar, Rocío / González González, Carolina / López Carnero, Juan / Moreno-Novillo, Rocío / Pérez-Moneo, Begoña

    Archivos argentinos de pediatria

    2022  Volume 121, Issue 1, Page(s) e202102482

    Abstract: Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE mediated allergic reaction with gastrointestinal symptoms, such as vomiting and diarrhea. FPIES diagnosis is based on clinical criteria and on a food challenge test. It is an unknown ... ...

    Title translation Acidosis metabólica neonatal por síndrome de enterocolitis inducido por proteína de alimentos: reporte de caso.
    Abstract Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE mediated allergic reaction with gastrointestinal symptoms, such as vomiting and diarrhea. FPIES diagnosis is based on clinical criteria and on a food challenge test. It is an unknown disease in neonatal units due to its nonspecific symptoms in newborn infants. An elevated methemoglobin level is a simple way to approach diagnosis. Here we describe a clinical case of a newborn admitted to the emergency department because of dehydration, lethargy, vomiting, diarrhea, severe metabolic acidosis, and a high methemoglobin level. Clinical improvement and complete recovery was achieved after initiation of elemental formula. The diagnostic suspicion was confirmed after a positive challenge test.
    MeSH term(s) Infant ; Infant, Newborn ; Humans ; Food Hypersensitivity/complications ; Food Hypersensitivity/diagnosis ; Dietary Proteins ; Methemoglobin ; Enterocolitis/diagnosis ; Enterocolitis/etiology ; Vomiting/etiology ; Syndrome ; Diarrhea/etiology ; Acidosis/diagnosis ; Acidosis/etiology
    Chemical Substances Dietary Proteins ; Methemoglobin (9008-37-1)
    Language Spanish
    Publishing date 2022-10-06
    Publishing country Argentina
    Document type Case Reports ; Journal Article
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2021-02482.eng
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
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  9. Article ; Online: Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

    Zenteno, Juan C / Arce-Gonzalez, Rocio / Matsui, Rodrigo / Lopez-Bolaños, Antonio / Montes, Luis / Martinez-Aguilar, Alan / Chacon-Camacho, Oscar F

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    2022  Volume 261, Issue 2, Page(s) 353–365

    Abstract: Purpose: To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations.: Methods: A total of ... ...

    Abstract Purpose: To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations.
    Methods: A total of eight unrelated Mexican subjects with a clinical and multimodal imaging diagnosis of macular dystrophy were included. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field tests, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed by means of whole exome sequencing with subsequent Sanger sequencing validation of causal variants.
    Results: All patients exhibited a predominantly macular or cone-dominant disease. Patients' ages ranged from 12 to 60 years. Three cases had mutations in genes associated with autosomal dominant inheritance (UNC119 and PRPH2) while the remaining five cases had mutations in genes associated with autosomal recessive inheritance (CNGA3, POC1B, BEST1, CYP2U1, and PROM1). Of the total of 11 different pathogenic alleles identified, three were previously unreported disease-causing variants.
    Conclusions: Macular dystrophies can be caused by defects in genes that are not routinely analyzed or not included in NGS gene panels. In this group of patients, whole exome sequencing efficiently detected rare genetic causes of hereditary maculopathies, and our findings contribute to expanding the current knowledge of the clinical and mutational spectrum associated with these disorders.
    MeSH term(s) Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Mutation ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics ; Electroretinography ; Visual Field Tests ; Tomography, Optical Coherence/methods ; Pedigree ; Phenotype ; Adaptor Proteins, Signal Transducing ; Bestrophins ; Cytochrome P450 Family 2
    Chemical Substances UNC119 protein, human ; Adaptor Proteins, Signal Transducing ; BEST1 protein, human ; Bestrophins ; CYP2U1 protein, human (EC 1.14.14.1) ; Cytochrome P450 Family 2 (EC 1.14.14.1) ; POC1B protein, human
    Language English
    Publishing date 2022-08-10
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 8435-9
    ISSN 1435-702X ; 0721-832X
    ISSN (online) 1435-702X
    ISSN 0721-832X
    DOI 10.1007/s00417-022-05786-4
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    Ul I Zs.15: Show issues Location:
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  10. Article ; Online: Novel

    Arce-Gonzalez, Rocio / Chacon-Camacho, Oscar F / Navas-Perez, Alejandro / Gonzalez-Gonzalez, María C / Martinez-Aguilar, Alan / Zenteno, Juan Carlos

    Ophthalmic genetics

    2021  Volume 43, Issue 2, Page(s) 224–229

    Abstract: Purpose: X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the : Methods: ... ...

    Abstract Purpose: X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the
    Methods: Three subjects (a father and his two daughters) underwent a complete clinical and imaging ocular examination including biomicroscopy, fundoscopy, tonometry, visual acuity, Pentacam Scheimpflug imaging, anterior segment Swept Source OCT, and ultrabiomicroscopy. Genetic analysis was performed through whole exome sequencing in 3 family members. Candidate variants were validated by sanger sequencing.
    Results: The affected father exhibited megalocornea, very deep anterior chambers, retrocorneal pigmentation, iris atrophy, queer iris configuration, extremely open iridocorneal angles, and cataracts. Notably, both daughters showed queer iris configuration and abnormally widely open iridocorneal angles in both eyes. Genetic analysis identified a novel hemizygous c.207+1G>A splicing variant in
    Conclusions: Here, we report an additional XMC family due to a novel mutation in the
    MeSH term(s) Eye Diseases, Hereditary/genetics ; Eye Proteins ; Female ; Genes, X-Linked ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Humans ; Male ; Mutation ; Nerve Tissue Proteins ; Pedigree
    Chemical Substances CHRDL1 protein, human ; Eye Proteins ; Nerve Tissue Proteins
    Language English
    Publishing date 2021-11-29
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2021.2002917
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