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31521por Yuan, Qiuping, Zhao, Min, Tandon, Bhavna, Maili, Lorena, Liu, Xiaoming, Zhang, Anqi, Baugh, Evan H., Tran, Tam, Silva, Renato M., Hecht, Jacqueline T., Swindell, Eric C., Wagner, Daniel S., Letra, Ariadne“…METHODS: We applied whole‐exome sequencing (WES) to identify the cause of oligodontia in a 9‐year‐old girl missing 11 permanent teeth. Protein modeling and functional analysis in zebrafish were also performed to understand the impact of identified variants on the phenotype. …”
Publicado 2017
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31522por Lee, Ching-Fen, Chen, Chi-Hua, Wen, Yu-Chuan, Chang, Tsung-Yen, Lai, Ming-Wei, Jaing, Tang-Her“…PATIENT CONCERNS: A 19-year-1-month-old girl presented with a history of CML. She underwent matched unrelated donor HSCT and donor lymphocyte infusion subsequently. …”
Publicado 2017
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31523“…PATIENT CONCERNS: This review presents the case of a 16-year-old girl presented with blurred vision in the right eye on awakening in the morning. …”
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31524“…CASE PRESENTATION: A 17-year-old girl required an emergency craniotomy for ruptured arteriovenous malformation. …”
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31525por Al Kaissi, Ali, Kuranova, Mirya, Pleskach, Nadezhda, Kenis, Vladimir, Nassib, Nabil M., Grill, Franz, Ganger, Rudolf, Gerit Kircher, Susanne“…The pronounced changes in 12.6 times at atypical form (girl); in 8.5 times at severe form (boy) and in 5.6 times at light form (boy). …”
Publicado 2017
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31526“…We report the youngest child who is a seven year old girl with right side isolated unilateral temporalis muscle hypertrophy. …”
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31527“…RESULTS: The case a 10-year-old asthmatic girl with SPM is reported. The patient received an inhaled corticosteroid and long-acting beta2 agonist, in addition to sublingual immunotherapy (SLIT) with eventual control of asthma symptoms. …”
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31528por Grünert, Sarah Catharina, Rosenbaum-Fabian, Stefanie, Schumann, Anke, Schwab, Karl Otfried, Mingirulli, Nadja, Spiekerkoetter, Ute“…Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. Lactation was successfully implemented. Leucine levels were maintained within the target range throughout the complete postpartum period. …”
Publicado 2018
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31529por Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary Ella“…CASE PRESENTATION: A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). …”
Publicado 2018
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31530por Miyawaki, Dai, Goto, Ayako, Iwakura, Yoshihiro, Hirai, Kaoru, Miki, Yusuke, Asada, Naomi, Terakawa, Hiroki, Inoue, Koki“…In this case report, we describe the successful treatment and cure of a 6-year-old preschool girl with severe OCD since the age of 3. At the age of 3, the patient began to fear contamination and danger to herself and her family, leading to excessive hand-washing, and several months later, ritualized checking. …”
Publicado 2018
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31531por Akhter, Shaheen, Hussain, A.H.M Enayet, Shefa, Jannatara, Kundu, Gopen Kumar, Rahman, Fazlur, Biswas, Animesh“…Among the four ASD cases three were boys and one was girl and age range was between 20- 30 months. Whereas, the highest prevalence rate found was for the cerebral palsy which was 5.6/1000 children and Developmental delay (2.6/1000) was the next to that. …”
Publicado 2018
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31532por Sheikhbahaei, Saba, Sherkat, Roya, Camacho-Ordonez, Nadezhda, Khoshnevisan, Razie, Kalantari, Asadollah, Salehi, Mansour, Nazemian, Seyed Saman, Nasr-esfahani, Mohammad Hossein, Klein, Christophe“…Another CVID female gave birth to a baby without being on any treatment since she was not diagnosed with immunodeficiency disease at that time. A healthy girl was implanted via preimplantation gender selection in a family who owned a Wiskott Aldrich-affected son. …”
Publicado 2018
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31533“…CASE PRESENTATION: A 23 year-old female patient had her first pregnancy and delivered a full-term healthy baby girl. After delivery, the patient developed fever, oliguria, massive ascites, high serum creatinine and high serum potassium. …”
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31534por Petry, Karl-Ulrich, Bollaerts, Kaatje, Bonanni, Paolo, Stanley, Margaret, Drury, Rosybel, Joura, Elmar, Kjaer, Susanne K., Meijer, Chris J. L. M., Riethmuller, Didier, Soubeyrand, Benoit, Van Damme, Pierre, Bosch, Xavier“…Objective: To estimate the lifetime risk (up to the age of 75 years) for developing cervical cancer after vaccinating a HPV naïve girl (e.g. 9 to 12 years old) with the 9vHPV vaccine in the hypothetical absence of cervical cancer screening. …”
Publicado 2018
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31535por Ornelas, Cristina Isabel de Figueiredo, Cabral Duarte, Fátima, Pereira dos Santos, Maria Conceição Galvão, Pereira Barbosa, Manuel Augusto de Castro“…Meat allergy and multiple food allergy due to sensitization to cross-reactive components in infancy is, however, less frequent. A 5-year-old girl was referred to our department with a multiple food allergy history. …”
Publicado 2018
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31536por Li, Ling, Li, Min, Lu, Jianping, Ge, Xiaohu, Xie, Weiguo, Wang, Zichen, Li, Xiaoling, Li, Chao, Wang, Xiaoyan, Han, Yan, Wang, Yifei, Zhong, Liyan, Xiang, Wei, Huang, Xiaodong, Chen, Haijia, Yao, Paul“…Our data show that the ASD prevalence rate in Hainan was 0.62% with a boy:girl ratio of 5.4:1. Interestingly, we found that the following factors were strongly associated with ASD prevalence: use of progestin to prevent threatened abortion, use of progestin contraceptives at the time of conception, and prenatal consumption of progestin-contaminated seafood during the first trimester of pregnancy. …”
Publicado 2018
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31537por Suganuma, Eisuke, Oka, Akira, Sakata, Hideaki, Adachi, Nodoka, Asanuma, Satoshi, Oguma, Eiji, Yamaguchi, Akira, Furuichi, Mihoko, Uejima, Yoji, Sato, Satoshi, Takano, Tadamasa, Kawano, Yutaka, Tanaka, Risa, Arai, Takashi, Oh-Ishi, Tsutomu“…CASE PRESENTATION: The patient was a one-month-old girl visited owing to abnormalities in neonatal hearing screening. …”
Publicado 2018
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31538“…PATIENT CONCERNS: A 15-year-old girl experienced hearing loss after acquiring a cold. …”
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31539por Barzaghi, Federica, Minniti, Federica, Mauro, Margherita, Bortoli, Massimiliano De, Balter, Rita, Bonetti, Elisa, Zaccaron, Ada, Vitale, Virginia, Omrani, Maryam, Zoccolillo, Matteo, Brigida, Immacolata, Cicalese, Maria Pia, Degano, Massimo, Hershfield, Michael S., Aiuti, Alessandro, Bondarenko, Anastasiia V., Chinello, Matteo, Cesaro, Simone“…Here we describe a case of ADA2 deficiency in a 4-year-old Caucasian girl. The patient was initially classified as autoimmune neutropenia and then she evolved toward an autoimmune lymphoproliferative syndrome (ALPS)-like phenotype. …”
Publicado 2019
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31540por Al-Kzayer, Lika'a Fasih Y., Yassin, Ahmed K., Salih, Khalid Hama, Shigemura, Tomonari, Sano, Kenji, Al-Simaani, Ruwaid Behnam Y., Tanaka, Miyuki, Nakazawa, Yozo, Okuno, Yusuke“…Our case is an 8-year-old Syrian girl, for first-cousin parents, with a refugee-status in the North of Iraq. …”
Publicado 2019
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