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30541por Hein, Noely, Bergara, Gabriel Heiser, Moura, Nathalie Bianchini Vieira, Cardoso, Débora Morais, Hirose, Maki, Ferronato, Angela Espósito, Pastorino, Antônio Carlos, Lo, Denise Swei, Gilio, Alfredo Elias“…The authors report the case of an 8-year old girl complaining of high-grade fever, malaise, headache, abdominal pain and a cutaneous rash. …”
Publicado 2015
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30542por Maruo, Yoshihiro, Mori, Asami, Morioka, Yoriko, Sawai, Chihiro, Mimura, Yu, Matui, Katsuyuki, Takeuchi, Yoshihiro“…CASE PRESENTATION: The present case study concerns an 8-year-old Japanese girl with a severe phenotype of RTH (TSH, fT3, and fT4 were 34.0 mU/L, >25.0 pg/mL and, >8.0 ng/dL, respectively), caused by a novel heterozygous frameshift mutation in exon 10 of the thyroid hormone receptor beta gene (THRB), c.1347-1357 del actcttccccc : p.E449DfsX11. …”
Publicado 2016
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30543por Akbari, Ayub, Hladunewich, Michelle, Burns, Kevin, Moretti, Felipe, Arkoub, Rima Abou, Brown, Pierre, Hiremath, Swapnil“…She was switched to intensive hemodialysis at 8 weeks of gestation and had a C-section because of hypertension at 35 weeks, with delivery of a healthy girl weighing 2012 g. Serum angiogenic factors (placental growth factor and soluble fms-like tyrosine kinase) were measured at 32, 33, and 34 weeks of gestation and at 1, 2, and 3 weeks postpartum. …”
Publicado 2016
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30544“…The analysis of steroids in pediatric cases requires high-sensitivity assays. A 14-year-old Syrian girl was referred for evaluation of short stature, amenorrhea, and hirsutism. …”
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30545por Desaphy, Jean-François, Carbonara, Roberta, D'Amico, Adele, Modoni, Anna, Roussel, Julien, Imbrici, Paola, Pagliarani, Serena, Lucchiari, Sabrina, Lo Monaco, Mauro, Conte Camerino, Diana“…OBJECTIVE: We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype. METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacologic studies using patch-clamp. …”
Publicado 2016
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30546por Such, Kamila, Gawlik, Aneta, Dejner, Aleksandra, Wasniewska, Malgorzata, Zachurzok, Agnieszka, Antosz, Aleksandra, Gawlik, Tomasz, Malecka-Tendera, Ewa“…Fifteen (68.2%) patients in group T0 became euthyroid. One (1.8%) girl (T1) developed overt hypothyroidism. Conclusions. …”
Publicado 2016
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30547“…CASE PRESENTATION: A 16-year-old girl presented to the outpatient otolaryngology clinic with painless swelling of the neck, and to the physical medicine and rehabilitation clinic with complaints of hip and low back pain that mimicked spondyloarthropathy. …”
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30548por Karaca, Neslihan Edeer, Aksu, Guzide, Ulusoy, Ezgi, Aksoylar, Serap, Gozmen, Salih, Genel, Ferah, Akarcan, Sanem, Gulez, Nesrin, Hirschmugl, Tatjana, Kansoy, Savas, Boztug, Kaan, Kutukculer, Necil“…Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. …”
Publicado 2016
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30549“…The patient is an 18‐year‐old girl, complaining hip pain on the left side for 6 months. …”
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30550“…The subject of our case report is a young girl who was attacked by a raccoon when she was 5 months old. …”
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30551por Irie, Toshiyuki, Shinji, Seiichi, Arai, Hiroki, Kan, Hayato, Yamada, Takeshi, Koizumi, Michihiro, Yokoyama, Yasuyuki, Takahashi, Goro, Iwai, Takuma, Okusa, Mikihiro, Ohta, Keiichiro, Uchida, Eiji“…Meckel’s diverticulum may sometimes present as an intraluminal polypoid mass causing small bowel obstruction; however, gastrointestinal bleeding due to Meckel’s diverticulum with a polypoid lesion is rare. A 14-year-old girl presented with tarry stool and syncope in our hospital. …”
Publicado 2016
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30552por Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Connolly, Mary B., Farrer, Matthew J., Demos, Michelle“…Patient 2 is a 15-year-old girl with treatment-resistant focal epilepsy, moderate intellectual disability, and autism. …”
Publicado 2016
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30553por Cezarino, Bruno Nicolino, Park, Rubens, Moscardi, Paulo Renato Marcelo, Lopes, Roberto Iglesias, Denes, Francisco T., Srougi, Miguel“…PATIENT AND METHODS: A 10 year-old girl presented with right abdominal flank pain, macroscopic hematuria, with previous history of urinary infections‥ Further investigation showed an 1,5 centimeter calculi in right kidney pelvis. …”
Publicado 2016
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30554por Aljabban, Lama, Kassab, Lina, Bakoura, Nour Alhuda, Alsalka, Mohammad Fayez, Maksoud, Ismaeil“…CASE PRESENTATION: We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. …”
Publicado 2016
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30555“…Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness. …”
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30556por Tolunay, Orkun, Çelik, Tamer, Çelik, Ümit, Kömür, Mustafa, Tanyeli, Zeynep, Sönmezler, Abdurrahman“…Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. …”
Publicado 2016
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30557“…PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism. …”
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30558“…Here, we describe a novel case of a 15-year-old Chinese girl who was diagnosed with low-grade thyroid-like papillary adenocarcinoma, including a brief review of the literature to reveal the clinicopathological features of low-grade thyroid-like nasopharyngeal papillary adenocarcinoma. …”
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30559por Galhenage, Janith, Weerasinghe, Buddhika, Dilesha, Wadasinghe, Constantine, Roshana, Gunasena, Bandu“…CASE PRESENTATION: We describe the case of a 15-year-old Sri Lankan girl who presented with symptoms of progressive shortness of breath and dry cough for 6 months’ duration. …”
Publicado 2017
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30560por Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua“…We have identified and investigated a 5-year-old Chinese girl with markedly reduced brain size (86% of normal size), intellectual disability and psychomotor developmental delay. …”
Publicado 2016
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