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30761“…METHODS: A 4‐year‐old girl presented with congenital hearing loss, developmental delay, hepatomegaly, and other clinical features. …”
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30762por Bañuelos Marco, Beatriz, Hiess, Manuela, Stein, Raimund, Gonzalez, Ricardo, Lingnau, Anja, Wood, Dan, Radford, Anna, Haid, Bernhard“…We gathered four experts in the field as well as an experienced leader of a patient group and mother of a girl with spina bifida and asked questions relevant to the following areas of care: (a) diversion, urinary incontinence, and sexual life; (b) impact of a stoma on body image perception and self-esteem; (c) specific female concerns with regard to fertility and recurrent urinary infections; (d) specific male concerns on anejaculation and erectile dysfunction. …”
Publicado 2020
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30763por El Abbassi, Taoufik, Elazhary, Abdessamad, Ouchane, Mohamed, El Wassi, Anas, Lefriyekh, M. Rachid“…CASE PRESENTATION: We report the case of a 17-year-old girl, consulted for a left hypochondrium mass which imaging concluded to be a corporal-caudal tumor mass of the pancreas for which a complete surgical excision was performed and whose anatomopathological study confirmed a pseudo-papillary and solid tumor of the pancreas. …”
Publicado 2021
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30764por Mohammadi, Pouria, Salehi Siavashani, Elham, Mohammadi, Mohammad Farid, Bahramy, Afshin, Almadani, Navid, Garshasbi, Masoud“…METHODS: In the present study, whole‐exome sequencing was performed in order to identify disease causing variant in an Iranian 7‐year‐old affected girl with craniosynostosis, dolichocephaly, blepharoptosis, clinodactyly of the 5th finger, high myopia, long face, micrognathia, patent ductus arteriosus, downslanted palpebral fissures, telecanthus, and epicanthus inversus. …”
Publicado 2021
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30765“…CASE REPORT: We present the case of a huge, twisted ovarian cyst in a 16-year-old girl who presented with an acute abdomen. The initial diagnosis was acute appendicitis, which delayed her referral to a gynecologist. …”
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30766por Albalawi, Reem, Hanafy, Ehab, Alnafea, Haifa, Altowijiry, Mohammed, Riyad, Shaima, Abufara, Fadwa, Albolowi, Naif“…The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. …”
Publicado 2021
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30767por Heidari, Masoud, Gharshasbi, Hamid, Isazadeh, Alireza, Soleyman-Nejad, Morteza, Taskhiri, Mohammad Hossein, Shapouri, Javad, Bolhassani, Manzar, Sadighi, Nahid, Heidari, Mansour“…MATERIALS AND METHODS: Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing. …”
Publicado 2021
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30768por Kitano, Hiroyuki, Hieda, Keisuke, Kitagawa, Hiroki, Nakaoka, Yusuke, Koba, Yumiko, Ota, Kohei, Shigemoto, Norifumi, Hayashi, Tetsutaro, Kashiyama, Seiya, Teishima, Jun, Shime, Nobuaki, Ohge, Hiroki, Hinata, Nobuyuki“…A 14-year-old girl noticed malodorous urine and experienced left flank pain. …”
Publicado 2021
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30769“…CASE SUMMARY: A 16-year-old girl who underwent a surgical patch closure for ASD at the age of 2 years presented to the emergency department and was diagnosed with acute stroke. …”
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30770“…CASE SUMMARY: The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. …”
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30771por Wakizaka, Kazuki, Khor, Lee Wee, Annen, Kazuya, Fukushima, Tsuyoshi, Furuya, Mitsuko, Taketomi, Akinobu“…CASE PRESENTATION: An 11-year-old girl presented to another hospital with lower abdominal pain and vomiting that lasted for 2 days. …”
Publicado 2021
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30772“…PATIENT CONCERNS: A 17-year-old girl with the history of aplastic anemia developed recurrent headache and sudden hemiplegia of right limbs 2 years after allo-HSCT. …”
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30773por Micale, Lucia, Foiadelli, Thomas, Russo, Federica, Cinque, Luigia, Bassanese, Francesco, Granatiero, Matteo, Fusco, Carmela, Savasta, Salvatore, Castori, Marco“…In cEDS, a single example of presumed gonosomal mosaicism for a COL5A1 variant has been published to date. (2) Methods: An 8-year-old girl with cEDS was analyzed by next-generation sequencing (NGS). …”
Publicado 2021
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30774por Wang, Chunmei, Luo, Xiaona, Wang, Yilin, Liu, Zhao, Wu, Shengnan, Wang, Simei, Lan, Xiaoping, Xu, Quanmei, Xu, Wuhen, Yuan, Fang, Wang, Anqi, Zeng, Fanyi, Jia, Jia, Chen, Yucai“…We explored the effectiveness of whole-exome sequencing in the diagnosis of Alström syndrome. METHODS: A girl with symptoms of Alström syndrome was tested and diagnosed with the disease by whole-exome sequencing. …”
Publicado 2021
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30775por Singh, Preeti, Heer, Maninder, Resteu, Anastasia, Mikulasova, Aneta, Reza, Mojgan, Largeaud, Laëtitia, Dufrechou, Stéphanie, Prade, Naïs, Dickinson, Rachel E., Bustamante, Jacinta, Neven, Bénédicte, Bigley, Venetia, Delabesse, Eric, Rico, Daniel, Pasquet, Marlène, Collin, Matthew“…A 3-year-old girl of nonconsanguineous healthy parents presented with cervical and mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. …”
Publicado 2021
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30776por KINOSHITA, Takamasa, YANO, Hirohito, NAKAYAMA, Noriyuki, SUZUI, Natsuko, IIDA, Tomohiro, ENDO, Saori, YASUE, Shiho, OZEKI, Michio, KOBAYASHI, Kazuhiro, MIYAZAKI, Tatsuhiko, IWAMA, Toru“…Giant cell glioblastoma (GCG) is a rare subtype of glioblastoma multiforme (GBM), and it often occurs in younger patients; however, its onset in children is extremely noticeable. A 7-year-old girl presented with a headache and restlessness. …”
Publicado 2021
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30777por Jatsho, Jimba“…CASE PRESENTATION: A 5-year-old, previously healthy girl presented with a one-week history of high-grade intermittent fever, Headache and right ear pain with a recent onset of reduced hearing. …”
Publicado 2022
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30778“…INTRODUCTION: WHO defines adolescent pregnancy as any pregnancy from a girl who is 10-19 years of age, the age being defined as her age at the time the baby is born. …”
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30779“…Semi-structured individual interviews were conducted with a multi-ethnic group (black, white, and people of mixed heritage) of South African adolescents (boy: n = 17; girl: n = 13; age: 14–19 years) from seven schools in Cape Town. …”
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30780por Hanalioglu, Damla, Terzi, Kivanc, Ozkan, Sati, Sivri, Mesut, Kurt, Funda, Misirlioglu, Emine Dibek“…CASE REPORT: This case report refers to a 17 year-old previously healthy girl admitted in our pediatric emergency department (ED) for syncope after a minor blunt abdominal trauma. …”
Publicado 2022
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