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31481por Odak, Ljubica, Barišić, Ingeborg, Morožin Pohovski, Leona, Riegel, Mariluce, Schinzel, Albert“…We report on the 10-year follow-up and clinical, cytogenetic, and molecular investigation of a girl admitted for evaluation because of speech delay, learning difficulties, aggressive behavior, and dysmorphic facial features that included high forehead, round face, epicanthic folds, low-set dysplastic ears, flat nasal bridge, long flat philtrum, thin upper lip, small mouth, and short neck. …”
Publicado 2011
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31482por Sakellariou, Vasileios I, Atsali, Erato, Starantzis, Konstantinos, Batistaki, Chrysanthi, Brozou, Triantafyllia, Pantos, Panayiotis, Stathopoulos, Konstantinos, Soultanis, Konstantinos“…CASE DESCRIPTION: A 14 year-old girl with a history of extended posterior spinal fusion due to idiopathic scoliosis presented to our department with diffuse erythema and nephritis (macroscopic hemuresis and proteinuria) 5 months post surgery. …”
Publicado 2011
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31483“…CASE PRESENTATION: A 14-year-old Thai HIV-infected girl presented with high-grade fever, multiple painful ulcerated oral lesions, generalized non-pruritic erythrematous skin papules and nodules with central umbilication, and multiple swollen, warm, and tender joints 8 weeks after ART initiation. …”
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31484por Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach“…No association was found between phenotypic manifestations and latitude of origin. One index-case was a girl with CALD who carried an ABCD1 mutation, and had completely skewed X inactivation. …”
Publicado 2012
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31485“…CASE PRESENTATION: A 15-year-old Caucasian girl, previously diagnosed with Crohn’s disease and treated with 6-mercaptopurine, developed Epstein-Barr virus infection-driven hemophagocytic lymphohistiocytosis. …”
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31486por Invernizzi, Pietro, Alessio, Maria Grazia, Smyk, Daniel S, Lleo, Ana, Sonzogni, Aurelio, Fabris, Luca, Candusso, Manila, Bogdanos, Dimitrios P, Iorio, Raffaele, Torre, Giuliano“…CASE PRESENTATION: We describe a case of type 2 AIH with serological positivity for PBC-specific anti-mitochondrial antibodies (AMA) in a 3-year old girl. We found this observation intriguing as AMA and indeed an overlap with PBC are virtually absent in Type 2 AIH, a pediatric form of AIH which is distinct precisely because it is characterized by pathognomonic anti-liver kidney microsomal type 1 (LKM-1) showing a remarkable antigen-specificity directed against cytochrome P4502D6. …”
Publicado 2012
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31487por Miyazaki, Tsuyoshi, Uchida, Kenzo, Yayama, Takafumi, Nakajima, Hideaki, Honjoh, Kazuya, Itoh, Hiroshi, Oda, Yoshinao, Baba, Hisatoshi“…CASE PRESENTATION: A 16-year-old Japanese girl presented to our facility with left knee joint pain, which started nine months before her initial examination. …”
Publicado 2013
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31488por Papadopoulos, Lazaros, Pentzou, Afroditi-Evaggelia, Louloudiadis, Konstantinos, Tsiatsos, Thrasyvoulos-Konstantinos“…The case is about an eight-year old girl visiting the dentist with her mother for the first time. …”
Publicado 2013
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31489por Shah, Veeral, Zlotcavitch, Leonid, Herro, Angela M, Dubovy, Sander R, Yehoshua, Zohar, Lam, Byron L“…A 7-year-old girl presented with decreased vision in both eyes for 1 month. …”
Publicado 2014
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31490por Lacarbonara, Mariano, Marzo, Giuseppe, Lacarbonara, Vitantonio, Monaco, Annalisa, Capogreco, Mario“…CASE PRESENTATION: A 14-year-old Caucasian girl presented for observation of bilateral agenesis of the upper incisors, which was diagnosed by orthopantomography. …”
Publicado 2014
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31491por Patabendige, Malitha“…She underwent emergency Caesarian section due to faetal distress giving birth to a healthy baby girl. Since postpartum day one, she was having intermittent fever spikes. …”
Publicado 2014
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31492por Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael“…CASE PRESENTATION: We report a 15 year-old girl with truncal ataxia, nystagmus, dysarthria and myoclonic epilepsy as the main clinical features. …”
Publicado 2014
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31493por Sobacchi, Cristina, Pangrazio, Alessandra, Lopez, Antonio González-Meneses, Gomez, Diego Pascual-Vaca, Caldana, Maria Elena, Susani, Lucia, Vezzoni, Paolo, Villa, Anna“…Here we describe an 8-year-old patient referred to us with a clinical diagnosis of ARO, based on radiological findings; of note, no neurological or hematological defects were present in this girl. Surprisingly, we identified a novel nucleotide change in intron 15 of the TCIRG1 gene at the homozygous state, leading to the production of multiple aberrant transcripts, but also, more importantly, of a limited amount of the normal transcript. …”
Publicado 2014
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31494por Dissanayake, Harsha, Keerthisena, Sisil, Dematapitiya, Chinthana, Katulanda, Prasad“…CASE PRESENTATION: An 18-year-old girl with type 1 diabetes mellitus presented with galactorrhoea. …”
Publicado 2014
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31495por Tuttle, Katherine SL, Vargas, Sara O, Callahan, Michael J, Bae, Donald S, Nigrovic, Peter A“…DESIGN: Radiographs, ultrasound and high-resolution magnetic resonance imaging were employed to define the locus of disease in two dactylitic digits from a 14-year-old girl with psJIA. Biopsies were stained with hematoxylin and eosin, CD3, CD20, CD4, CD8 and CD117 and examined via light microscopy. …”
Publicado 2015
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31496“…CASE PRESENTATION: A five-year-old girl presented to the hospital for a routine retina check-up. …”
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31497por Magri, Chiara, Marchina, Eleonora, Bertini, Valeria, Traversa, Michele, Savio, Giulia, Pilotta, Alba, Piovani, Giovanna“…CASE PRESENTATION: We report the case of a 15-year-old dysmorphic girl with low grade psychomotor retardation characterized by a karyotype with a large acrocentric short arm of one chromosome 22. …”
Publicado 2015
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31498por Roma, Davide, Palma, Paolo, Capolino, Rossella, Figà-Talamanca, Lorenzo, Diomedi-Camassei, Francesca, Lepri, Francesca Romana, Digilio, Maria Cristina, Marras, Carlo Efisio, Messina, Raffaella, Carai, Andrea, Randi, Franco, Mastronuzzi, Angela“…CASE PRESENTATION: A 23 years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4 years old presented with acute lumbar pain and intermittent tactile hyposthenia of the feet. …”
Publicado 2015
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31499“…CASE PRESENTATION: A 10-year-old girl presented with marked exercise intolerance and palpitations and was diagnosed to have large PDA. …”
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31500“…PATIENT: The subject of this case report is a 14-year-old adolescent girl admitted to the psychiatric clinic at Jimma University Teaching Hospital. …”
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