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32261“…CASE PRESENTATION: A 12-year-old girl presented with acute flushing, cyanosis, swollen eyelids, and dyspnea after an endurance run in winter or swimming in a cold-water pool. …”
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32262“…CASE PRESENTATION: We present the case of a 14-year-old Saudi girl who visited our emergency department with abdominal pain and vomiting. …”
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32263por Shen, Qian, Liu, Jialu, Chen, Jing, Zhou, Shuizheng, Wang, Yi, Yu, Lifei, Sun, Li, Wang, Liuhui, Wu, Bingbing, Liu, Fang, Cao, Yun, Huang, Ying, Wang, Jianshe, Yang, Chenhao, Zhu, Daqian, Ma, Yangyang, Xu, Zhengmin, Lu, Wei, Fu, Lili, Zhou, Wenhao, Xu, Hong“…Family screening of these 10 diagnosed children indicated that 9 boys inherited it from their mothers and 1 girl inherited it from her father. Four of them started to receive enzyme replacement therapy. …”
Publicado 2021
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32264por Duodu, Precious Adade, Bayuo, Jonathan, Mensah, Josephine Aboagye, Aduse-Poku, Livingstone, Arthur-Holmes, Francis, Dzomeku, Veronica Millicent, Dey, Nutifafa Eugene Yaw, Agbadi, Pascal, Nutor, Jerry John“…Poverty-reduction policies, promoting maternal and girl-child education, improving general livelihood in rural settings, expanding health insurance coverage and infrastructural access, harnessing community-level structures, and innovative measures such as telehealth and telemedicine are required to increase antenatal care utilization. …”
Publicado 2022
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32265por Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra“…RESULTS: We report two cases: one girl suffering from typical skin and skeletal abnormalities, developmental delay, microcephaly, thin corpus callosum, periventricular gliosis and drug-resistant epilepsy caused by a PORCN nonsense-mutation (c.283C > T, p.Arg95Ter). …”
Publicado 2022
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32266por Baba, Naomi, Lengyel, Anna, Pinti, Eva, Yapici, Elzem, Schreyer, Isolde, Liehr, Thomas, Fekete, György, Eggermann, Thomas“…RESULTS: Here we report two patients with SRS features in which molecular karyotyping revealed microdeletions in 1q21 and 8q12.1 respectively. In a 3.5-year-old girl with postnatal growth restriction, feeding difficulties, relative macrocephaly and distinct SRS features a 2 Mb deletion in 1q21.1q21.2 was identified. …”
Publicado 2022
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32267“…CASE DESCRIPTION: We present a case of an 13-year-old girl who suffered an open injury to the medial distal tibia with traumatic loss of the medial malleolus at the age of 2 and later suffered a Salter-Harris II fracture to the ipsilateral distal fibula. …”
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32268“…CASE PRESENTATION: An 8-year-old girl was admitted with a 4-year history of occasional bloody stools. …”
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32269“…CASE PRESENTATION: An 8-day old full-term baby girl was referred to our center for evaluation of neonatal bradycardia and generalized jaundice that started in the first day of life. …”
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32270por Olubodun, Tope, Rahman, Semiu Adebayo, Odukoya, Oluwakemi Ololade, Okafor, Ifeoma P., Balogun, Mobolanle Rasheedat“…CONCLUSION: Strategies to promote institutional delivery among young mothers should include promoting girl child education, reducing financial barriers in access to healthcare, promoting antenatal care, and improving skilled birth attendants and transportation support in disadvantaged communities.…”
Publicado 2023
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32271por Lebrun, Laetitia, Allard-Demoustiez, Sacha, Gilis, Nathalie, Van Campenhout, Claude, Rodesch, Marine, Roman, Celine, Calò, Pierluigi, Lolli, Valentina, David, Philippe, Fricx, Christophe, De Witte, Olivier, Escande, Fabienne, Maurage, Claude-Alain, Salmon, Isabelle“…The patient was a 4-year girl with no previous history of disease. For a few weeks, she suffered from headaches, vomiting and mild fever associated with increasing asthenia and loss of weight leading to a global deterioration of health. …”
Publicado 2023
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32272por Gustafsson, Jasmine, Lyyra, Nelli, Jasinskaja-Lahti, Inga, Simonsen, Nina, Lahti, Henri, Kulmala, Markus, Ojala, Kristiina, Paakkari, Leena“…The results of the mixed effect multinomial logistic regression analysis showed that in both samples, being a girl and reporting lower maternal monitoring; lower family, peer, and teacher support; higher intensity of online communication; a less positive home atmosphere and school climate; and poor self-rated health were most strongly linked to belonging to a poorer mental health profile. …”
Publicado 2023
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32273por Gashaye, Kiros Terefe, Gebresilassie, Keflie Yohannes, Kassie, Belayneh Ayanaw, Zenebe, Chernet Baye, Mengistu, Zelalem, Ferede, Solomon Emyu, Andualem, Zewudu, Merid, Mehari W./Mariam, Taddese, Asefa Adimasu, Abera, Mikyas“…RESULTS: Several misconceptions about contraceptives (e.g., implants are not appropriate for daily laborers, women who use contraceptives (such as injectables) can only bear girl-child, etc.) were reported by clients and health providers. …”
Publicado 2023
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32274por De Nardi, Laura, Natale, Marco Francesco, Messia, Virginia, Tomà, Paolo, De Benedetti, Fabrizio, Insalaco, Antonella“…CASE PRESENTATION: We herein report the case of a 7-year-old Caucasian girl who was admitted to the Rheumatology Department with a history of febrile chough and polyarthritis which led initially to the suspicion of an autoinflammatory disease. …”
Publicado 2023
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32275KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndromepor Moreno-Igoa, María, Hernández-Charro, Blanca, Bengoa-Alonso, Amaya, Pérez-Juana-del-Casal, Aranzazu, Romero-Ibarra, Carlos, Nieva-Echebarria, Beatriz, Ramos-Arroyo, María Antonia“…RESULTS: Herein, we present the first report of disruption and haploinsufficiency of the KANSL1 gene, secondary to a t(1;17)(q12;q21)dn chromosomal translocation in a girl that also carried a de novo ~289-kb deletion on 16p11.2. …”
Publicado 2015
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32276por Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M., Fakhro, Khalid A., Cugno, Chiara“…CASE PRESENTATION: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. …”
Publicado 2016
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32277por Kikuta, Kazutaka, Oguro, Sota, Yamamoto, Tatsuya, Sekita, Tetsuya, Yamaguchi, Sayaka, Susa, Michiro, Nishimoto, Kazumasa, Inoue, Masanori, Nakatsuka, Seishi, Sasaki, Aya, Kameyama, Kaori, Nakamura, Masaya, Matsumoto, Morio, Morioka, Hideo“…CASE PRESENTATION: A 9-year-old Japanese girl presented at a clinic with left hip pain without apparent cause for 1 month. …”
Publicado 2016
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32278por Ellinger, Philipp, Stindt, Jan, Dröge, Carola, Sattler, Katharina, Stross, Claudia, Kluge, Stefanie, Herebian, Diran, Smits, Sander H J, Burdelski, Martin, Schulz-Jürgensen, Sebastian, Ballauff, Antje, Schulte am Esch, Jan, Mayatepek, Ertan, Häussinger, Dieter, Kubitz, Ralf, Schmitt, Lutz“…Wild-type and mutant BSEP transport of [(3)H]-labeled taurocholate (TC) and taurochenodeoxycholate (TCDC) was assessed by vesicular transport assays. RESULTS: A girl (at 2 mo) presented with pruritus, jaundice and elevated serum bile salts (BS). …”
Publicado 2017
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32279por Ralapanawa, Dissanayake Mudiyanselage Priyantha Udaya Kumara, Kumarihamy, Kulatunga Wijekoon Mudiyanselage Pramitha Prabhashini, Sundararajah, Miriyalini, Jayalath, Widana Arachchilage Thilak Ananda“…Given the rarity of this form of myocarditis, it is often under-recognized. We describe a young girl who presented with features of heart failure. …”
Publicado 2018
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32280“…METHODS: This study analyzed the content of YouTube comments that discuss overweight individuals or groups from 2 viral videos, titled “Fat Girl Tinder Date” and “Fat Guy Tinder Date.” The twin videos provide an avenue through which to analyze discussions of obesity as they organically occurred in a contemporary setting. …”
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