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31321por Jayi, Sofia, Bouguern, Hakima, Fdili, Fatima Zohra, Chaara, Hikmat, Chbani, Leila, Hafidi, Imane, Kamaoui, Imane, Arifi, Samia, Mellas, Naoufal, Bouhafa, Touria, Hassouni, Khalid, Tizniti, Siham, Laamarti, Afaf, Melhouf, My Abdelilah“…CASE PRESENTATION: A 16-year-old Moroccan adolescent girl presented to our center with a protruding mass from her vaginal introitus, as a polyp of 6cm. …”
Publicado 2014
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31322por da Silva Martins, Raisa, Fonseca, Ana Carolina Proença, Acosta, Franklyn Enrique Samudio, Folescu, Tania Wrobel, Higa, Laurinda Yoko Shinzato, Sad, Izabela Rocha, de Miranda Chaves, Célia Regina Moutinho, Cabello, Pedro Hernan, Cabello, Giselda Maria Kalil“…Furthermore, she developed severe acute lung disease and recurrent episodes of dehydration requiring hospitalization. The girl carried the CFTR mutation S4X in apparent homozygosity. …”
Publicado 2014
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31323“…The first patient was a 12-year-old girl with an atrioventricular septal defect, who underwent biventricular repair at the age of 8 months. …”
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31324por Lizcova, Libuse, Zemanova, Zuzana, Lhotska, Halka, Zuna, Jan, Hovorkova, Lenka, Mejstrikova, Ester, Malinova, Eva, Rabasova, Jana, Raska, Ivan, Sramkova, Lucie, Stary, Jan, Michalova, Kyra“…Here we report a new case of a 17-year-old girl with newly diagnosed ALL and uncommon cytogenetic and clinical finding combining high hyperdiploidy and a cryptic BCR/ABL1 fusion and an inherited Charcot-Marie-Tooth neuropathy detected during the induction treatment. …”
Publicado 2014
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31325por Das, Sumon Kumar, Afroze, Farzana, Ahmed, Tahmeed, Faruque, Abu Syed Golam, Sarker, Shafiqul Alam, Huq, Sayeeda, Islam, M Munirul, Shahrin, Lubaba, Matin, Fariha Bushra, Chisti, Mohammod Jobayer“…CASE PRESENTATION: A 6-month-old Asian Bangladeshi girl of middle-class socioeconomic status was admitted to the intensive care unit of our institution in 2012 with acute watery diarrhea, lethargy and hypernatremia (208mmol/L serum sodium). …”
Publicado 2015
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31326por Tibúrcio, Fernanda Rodrigues, de Sá Rodrigues, Karla Emília, Vasconcelos, Hérika Martins Mendes, Miranda, Débora Marques, Simões e Silva, Ana Cristina“…CASE PRESENTATION: This case report describes a 6 years-old girl with febrile neutropenia during the treatment of neuroblastoma. …”
Publicado 2015
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31327“…We report a pediatric case with coexistence of ANCAs and anti-GBM antibodies. A 6-year-old girl presented with acute renal failure, hematuria, proteinuria, and oliguria. …”
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31328por Wakiguchi, Hiroyuki, Hasegawa, Shunji, Hirano, Reiji, Kaneyasu, Hidenobu, Wakabayashi-Takahara, Midori, Ohga, Shouichi“…CASE PRESENTATION: A 4-year-old girl with JDM was hospitalized because of fever, erythema, hepatosplenomegaly, cytopenia, liver dysfunction and coagulopathy. …”
Publicado 2015
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31329“…CASE PRESENTATION: A 6-year old girl with oculodentodigital dysplasia, with progressive chronic angle- closure glaucoma secondary to ciliary body cysts presented to our clinic. …”
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31330por Guglielmi, Valeria, Floris, Roberto, D’Adamo, Monica, Garaci, Francesco, Novelli, Giuseppe, Sbraccia, Paolo“…CASE PRESENTATION: This report describes the first case of an Italian young girl featuring pPNH and severe hyperphagic obesity. …”
Publicado 2016
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31331por Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons“…METHODS: We report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. …”
Publicado 2016
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31332por Zhang, Rui, Chen, Xuan, Li, Peiling, Lu, Xiumin, Liu, Yu, Li, Yan, Zhang, Liang, Xu, Mengnan, Cram, David S.“…In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with severe mental retardation, congenital heart disease and craniofacial abnormalities. …”
Publicado 2016
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31333por Castellazzi, Luca, Patria, Maria Francesca, Frati, Gemma, Esposito, Andrea Alessandro, Esposito, Susanna“…CASE PRESENTATION: This case report describes a 4-year-old girl who was admitted for an acute episode of lower respiratory tract infection associated with severe dyspnoea, polypnoea, and severe anaemia (haemoglobin levels, 5.9 g/dL). …”
Publicado 2016
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31334“…CASE PRESENTATION: A 7-year-old white girl presented with fevers and maculopapular rash with a recent history of tonsillitis. …”
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31335por Sarbu, Ioan, Socolov, Demetra, Socolov, Razvan, Miron, Ingrith, Trandafirescu, Mioara, Diaconescu, Smaranda, Ciongradi, Carmen Iulia“…The morphology of the lesion was defined by fetal MRI performed at 25th week of gestation. A baby girl with a huge sacrococcygeal tumor was born and surgery was performed 48 hours later. …”
Publicado 2016
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31336por Delpire, Eric, Wolfe, Lynne, Flores, Bianca, Koumangoye, Rainelli, Schornak, Cara C., Omer, Salma, Pusey, Barbara, Lau, Christopher, Markello, Thomas, Adams, David R.“…This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. …”
Publicado 2016
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31337por Tateishi, Yoko, Okudela, Koji, Kawai, Shigeo, Suzuki, Takehisa, Umeda, Shigeaki, Matsumura, Mai, Kioi, Mitomu, Ohashi, Kenichi“…Tooth 43 did not erupt after the loss of tooth 83 in an 11-year-old girl with no previous history of trauma. Panoramic tomography showed a unilocular radiolucent lesion in the right anterior mandible resorbing the root of tooth 42 and the medial side of the root of tooth 44. …”
Publicado 2016
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31338“…CASE PRESENTATION: Here we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred. …”
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31339por Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.“…Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p.R1664Q variant, in four individuals with global developmental delay, hypotonia, and ophthalmologic abnormalities. …”
Publicado 2017
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31340por Trandafir, Laura Mihaela, Chiriac, Madalina Ionela, Diaconescu, Smaranda, Ioniuc, Ileana, Miron, Ingrith, Rusu, Daniel“…METHODS: The authors report the case of a 2-year-old girl admitted to a tertiary pediatric center for repeated episodes of fever with aphthous stomatitis and laterocervical adenopathy. …”
Publicado 2016
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