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30661por Carlhan-Ledermann, Audrey, Laubscher, Bernard, Steinlin, Maja, Ulrich, Christian T., Verma, Rajeev Kumar, Rizzi, Mattia, Maduri, Rodolfo, Grunt, Sebastian“…CASE PRESENTATION: We report one case of a 7-year-old girl who developed a neck pain after minor cervical sprain. …”
Publicado 2020
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30662por Zhang, Ping, Wu, Bingbing, Lu, Yulan, Ni, Qi, Liu, Renchao, Zhou, Wenhao, Wang, Huijun“…METHODS: Trio whole‐exome sequencing (WES), comparative genomic hybridization microarray (arry‐CGH), and Sanger sequencing were performed on a 6‐month‐old girl with severe neonatal hypotonia and feeding difficulties. …”
Publicado 2020
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30663por Namgoong, Jung-Man, Hwang, Shin, Oh, Seak Hee, Kim, Kyung Mo, Park, Gil-Chun, Ahn, Chul-Soo, Kwon, Hyunhee, Cho, Yu Jeong, Kwon, Yong Jae“…The patient was a 10-kg 18-month-old girl suffering from large multiple hepatoblastomas, which were partially regressed by neoadjuvant chemotherapy. …”
Publicado 2020
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30664“…The exposed needle was curved. A girl had an EAI administered for anaphylaxis, which was also difficult to dislodge. …”
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30665por Yang, Qi, Hua, Rong, Qian, Jiale, Yi, Shang, Shen, Fei, Zhang, Qiang, Li, Mengting, Yi, Sheng, Luo, Jingsi, Fan, Xin“…Previous reports have associated PREPL deficiency with only one nucleotide substitution, the deletion of four nucleotides, and eight small microdeletions in the PREPL gene In this study, we used whole exome sequencing (WES) to identify a novel homozygous splicing mutation (c.616 + 1G > T) in a 14-year-old Chinese girl with PREPL deficiency. Sequencing of the RT-PCR products from the patient’s blood sample revealed that the c.616 + 1G > T variant disrupted normal splicing in intron 4 leading to an aberrant inclusion of 43 nucleotides in intron, a frameshift, and premature termination codon. …”
Publicado 2020
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30666por Desprairies, Camille, Imbard, Apolline, Koehl, Bérengère, Lorrot, Mathie, Gaschignard, Jean, Sommet, Julie, Pichard, Samia, Holvoet, Laurent, Faye, Albert, Benkerrou, Malika, Benoist, Jean-François, Schiff, Manuel“…We report herein the case of a 13-year-old girl with sickle cell disease exhibiting severe neurological and biochemical signs of functional vitamin B12 deficiency due to prolonged and repeated exposure to N(2)O. …”
Publicado 2020
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30667por Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine“…Here, we describe a 9‐year‐old girl born to nonconsanguineous Syrian parents with the characteristic features of Steel syndrome, including short stature, massive malalignment of large joints, kyphoscoliosis, hearing loss, and typical facial dysmorphism. …”
Publicado 2020
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30668por Laninga-Wijnen, Lydia, Steglich, Christian, Harakeh, Zeena, Vollebergh, Wilma, Veenstra, René, Dijkstra, Jan Kornelis“…Three waves of peer-nominated data were collected in the first- and second year of secondary school (N = 1816 students; 81 classrooms; M(age) = 13.06; 50.5% girl). Longitudinal social network analyses indicate that prosocial popularity norms have most power to affect both prosocial and aggressive friendship processes when aggressive popularity norms are non-present. …”
Publicado 2019
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30669por Paz-y-Miño, César, Proaño, Ana, Verdezoto, Stella D., García, Juan Luis, Hernández-Rivas, Jesús María, Leone, Paola E.“…CASE PRESENTATION: A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was clinically, cytogenetically and molecularly analysed. …”
Publicado 2019
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30670por Jemail, Leila, Miyao, Masashi, Hamayasu, Hideki, Minami, Hirozo, Abiru, Hitoshi, Baba, Shiro, Osamura, Toshio, Tamaki, Keiji, Kotani, Hirokazu“…Here, we report an autopsy case of a 21-month-old girl who died due to mumps myocarditis associated with an undiagnosed LVNC. …”
Publicado 2020
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30671“…PATIENT CONCERNS: We report the case of a 3-year-old girl who presented with fever, signs of accute upper respiratory tract infection and spontaneous, disseminated ecchymoses. …”
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30672por Irianto, Komang Agung, Martanto, Tri Wahyu, Nugroho, Rendra Praliestyo, Sindrawati, Oen, Kloping, Yudhistira Pradnyan“…PRESENTATION OF CASE: A five-year-old girl fell from a bicycle and was treated by a traditional healer by wrapping her legs with herbs and leaves. …”
Publicado 2020
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30673“…A 7-year-old Palestinian girl presented with right foot crush injury and open multiple metatarsal and tarsal bone fractures with significant soft tissue loss. …”
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30674por Sobjanek, Michał, Sławińska, Martyna, Romaszkiewicz, Alicja, Biernat, Wojciech, Pęksa, Rafał, Nowicki, Roman J.“…RESULTS: Seven patients were boys and one girl, with mean age of 9 years (range: 6–13). More than a half (n = 5) presented skin phototype II. …”
Publicado 2019
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30675por Babiker, Amir, Alaqeel, Bothainah, Alsaeed, Mohammed, Aljahdali, Ghadeer, Almunif, Abdulrahman, Sandhu, Sundeep“…We report a 6-year-old girl with type 1 diabetes with HbA1c ranged between 10.7% and 15.7%. …”
Publicado 2020
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30676por Trombetta, Andrea, Migliarino, Vanessa, Faletra, Flavio, Barbi, Egidio, Tornese, Gianluca“…CASE PRESENTATION: We report the case of a girl admitted to our Institute for growth delay. …”
Publicado 2020
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30677por Akutagawa, Kazuki, Tamura, Goichiro, Tsurubuchi, Takao, Ishikawa, Eiichi, Matsumura, Akira, Inagaki, Takayuki“…CASE PRESENTATION: The patient, a 4-year-old girl, presented with QAC associated with congenital occipital encephalocele. …”
Publicado 2020
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30678“…CASE SUMMARY: A 7-mo-old baby girl received LT due to biliary atresia and cholestasis cirrhosis. …”
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30679por Angelico, Roberta, Paolantonio, Guglielmo, Paoletti, Monica, Grimaldi, Chiara, Saffioti, Maria Cristina, Monti, Lidia, Candusso, Manila, Rollo, Massimo, Spada, Marco“…CASE SUMMARY: We present the first case of a 6-month-old girl with trisomy 21 affected by a complex congenital IAFP, which caused severe PH, successfully treated with an endovascular-surgical hybrid procedure. …”
Publicado 2020
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30680por Zama, Daniele, Giulietti, Giulia, Muratore, Edoardo, Andolfo, Immacolata, Russo, Roberta, Iolascon, Achille, Pession, Andrea“…CASE PRESENTATION: We describe the case of a 12-years-old girl with well-compensated chronic hemolysis, increased MCHC and a father who had the same hematological characteristics. …”
Publicado 2020
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