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31121por Liang, Yujian, He, Xiufang, Wang, Ti, Chen, Yili, Huang, Huimin, Tang, Wen, Li, Yijuan“…Case Presentation: A 6-year-old girl who was on chemotherapy for lymphoma presented with fever and was treated with intravenous broad-spectrum antibiotics 3 days before admission to our hospital. …”
Publicado 2020
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31122“…RESULTS: In this article, we summarized all the previously reported cases of ASNSD and that of a Chinese girl who was clinically diagnosed with ASNSD, which was later confirmed via genetic testing. …”
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31123“…We present the case of a 17-year-old girl who was admitted to a tertiary-care psychiatric center with acute onset psychosis and fever. …”
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31124por Jędrzejczyk-Patej, Ewa, Woźniak, Aleksandra, Litwin, Linda, Skiba-Zdrzałek, Alina, Mazurek, Michał, Lenarczyk, Radosław, Kalarus, Zbigniew, Kowalski, Oskar“…CASE SUMMARY: Herein, we report the successful implantation of Micra™ Transcatheter Pacing System in two children: 12-year-old boy and 13-year-old girl, along with a long-term follow-up. The children had indications for pacemaker implantation, however, with an expected low percentage of pacing due to paroxysmal nature of the third-degree atrioventricular block. …”
Publicado 2020
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31125por Takagi, Mizuki, Kato, Shunsuke, Muto, Taichiro, Sano, Yoshimi, Akiyama, Tomoyuki, Takagi, Junko, Okumura, Akihisa, Iwayama, Hideyuki“…Enzyme replacement therapy (ERT) is effective in severe HPP cases; however, information about its efficacy for odonto-HPP is limited. A 2-yr-old girl was referred to our hospital for mobility of her deciduous teeth with low serum alkaline phosphatase (ALP) level of 253 U/L (reference range: 410–1,150 U/L) and high urine phosphoethanolamine level of 1,419.9 µmol/g·Cre (7–70 µmol/g·Cre). …”
Publicado 2020
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31126por Kava, Maina P., Bryant, Leah, Rowe, Peter, Lewis, Barry, Greed, Lawrence, Balasubramaniam, Shanti“…We describe a 4 year old girl with classical PDE who demonstrated significant improvements in clinical, neurological and developmental outcomes including absence of clinical seizures and cessation of antiepileptic medications since age 3 months, normalisation of EEG, significant improvement in the white matter signal throughout the cerebrum on neuroimaging and significant reduction in urine P6C and pipecolic acid levels post‐ combined therapy with lysine restricted diet in conjunction with pyridoxine and folinic acid. …”
Publicado 2020
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31127“…The investigations that we undertook provided evidence that the girl suffered from non-classic 21α-hydroxylase deficiency with consequent enhancement of the androgen “backdoor” pathway in adrenals, peripheral tissues or both, using adrenal origin precursors. …”
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31128por Zhao, Haiyue, Zhang, Hongguo, Xi, Qi, Li, Leilei, Zhu, Haibo, Hu, Xiaonan, Liu, Ruizhi“…INTERVENTIONS: The couple received artificial insemination by donor (AID) and a healthy girl was born after the embryo transfer. OUTCOMES: We found a novel deletion-insertion variation c.326_326delinsGGAAGGTGAGCTATTGT in the exon 3 of the HSF2 gene by performing next-generation sequencing on him who was diagnosed NOA. …”
Publicado 2020
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31129por Gullapalli, Keerthi, Goldzweig, Ofra, Nanda, Kabita, Chekka, Ravi, Berry, Shanail, Bukulmez, Hulya“…We report here the case of a 12-year-old girl with JDM who developed Thrombotic Thrombocytopenic purpura (TTP) and Purtscher's retinopathy. …”
Publicado 2020
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31130“…Some patients, however, are able to maintain their motor functions by undertaking exercise programs. CASE: A 2-year-old girl was diagnosed with Rett syndrome after the identification of a mutation in the gene encoding the methyl-CpG-binding protein. …”
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31131por Filisetti, Claudia, Russo, Tiziana, Pansini, Andrea, Vella, Claudio, Viglio, Camilla, Riccipetitoni, Giovanna“…To our knowledge, this is the first report of PMC-L successfully removed in a child, focusing on the importance of multidisciplinary primary surgery for the treatment of this tumor. A 7-year-old girl was admitted for persistent cough and fever; she was unresponsive to oral antibiotics. …”
Publicado 2020
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31132“…The affected 5-year-old girl presented as seizures with fever sensitivity, and mild cognitive and behavioral disorders. …”
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31133“…DBV was found in two patients who were in the florid phase of the disease: (a) A 17‐year‐old girl experienced rhythmical jerking of bilateral limbs. …”
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31134por Carinelli, Soledad, Blanco, Olalla Alvarez, Perdomo-Ramirez, Ana, Claverie-Martin, Felix“…The present study aimed to identify the disease-causing mutation in a 2-year old girl with nephrotic syndrome that evolved rapidly to end-stage renal disease. …”
Publicado 2020
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31135por Zhang, Xi-Wen, Zhai, Li-Rong, Huang, Dong-Wei, Jiang, Zhen-De, Yu, Tong, Liu, Shu-Yan, Cui, Man-Hua“…INTERVENTIONS: She received a cesarean section due to severe abdominal pain, delivered a healthy girl at 38 C 4 weeks of gestation, and accepted fertility-preserving surgery. …”
Publicado 2020
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31136por Chao, Jonathan, Saleem, Sandal, Tausif, Hassan N., Levasseur, Kelly, Stec, Lori A.“…CASE REPORT: A 15-year-old African American girl presented to the Emergency Department with acute horizontal binocular diplopia in left gaze. …”
Publicado 2020
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31137por Rokaya, Poojan Kumar, Karki, Dhan Bahadur, Rawal, Mangal, Limbu, Deoman, Menyangbo, Suryaman, Devkota, Harihar“…A total of 138 children underwent operative fixation with mean age of 7.47 years and gender ratio of 2:1 boy to girl. Fall from cliff, ladders and rooftops were the prevailing cause of injury 73 (52.8%). …”
Publicado 2020
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31138“…We herein report two Korean siblings with 3-M syndrome caused by two novel OBSL1 mutations, and describe the effect of a combined treatment with growth hormone (GH) and a gonadotropin-releasing hormone (GnRH) agonist. A 7-year-old girl with short stature (−3.37 standard deviation score, SDS) and breast budding presented with subtle dysmorphic features, including macrocephaly, frontal bossing, a triangular face, prominent philtrum, full lips, a short neck, and fifth-finger clinodactyly. …”
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31139“…The patient in this case underwent HSCT from a human leukocyte antigen (HLA)-matched younger brother with β-thalassemia minor. A 7-year-old girl was referred to our facility following a 6-month history of easy bruising and pallor. …”
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31140por May, Carl R, Albers, Bianca, Desveaux, Laura, Finch, Tracy L, Gilbert, Anthony, Hillis, Alyson, Girling, Melissa, Kislov, Roman, MacFarlane, Anne, Mair, Frances S, May, Christine M, Murray, Elizabeth, Potthoff, Sebastian, Rapley, TimEnlace del recurso
Publicado 2022
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