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31201por Matusik, Pawel, Gach, Agnieszka, Zajdel-Cwynar, Olimpia, Pinkier, Iwona, Kudela, Grzegorz, Gawlik, Aneta“…A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. …”
Publicado 2021
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31202por Rank, Andreas, Tzortzini, Athanasia, Kling, Elisabeth, Schmid, Christoph, Claus, Rainer, Löll, Eva, Burger, Roswitha, Römmele, Christoph, Dhillon, Christine, Müller, Katharina, Girl, Philipp, Hoffmann, Reinhard, Grützner, Stefanie, Dennehy, Kevin M.Enlace del recurso
Publicado 2021
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31203por Meireles, Daniel, Fernandes, Sofia Ribeiro, Sarmento, Alzira, Barbosa, Telma, Magalhães, Manuel Ferreira, Ramos, Ana, Fernandes, Paula Cristina“…Patient B was a 17-month-old girl admitted with a convulsive status epilepticus who experienced respiratory complications (infectious and barotrauma) with ARDS, requiring aggressive ventilation. …”
Publicado 2021
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31204“…The patient was a 68-h-old girl who had progressive lethargy, no crying, and poor sucking ability from birth, and was therefore transferred to our department. …”
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31205por Hafstad, Gertrud Sofie, Sætren, Sjur Skjørshammer, Wentzel-Larsen, Tore, Augusti, Else-Marie“…However, the observed change was driven by the increase in age between assessments. Being a girl, having pre-existing mental health problems, and living in a single-parent household at T1, predicted higher levels of anxiety and depressive symptoms at T2 (p<.001). …”
Publicado 2021
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31206“…About 65% of under‐five children in Sub‐Saharan Africa (SSA) were anaemic, ranging from 40% in Rwanda to 82% in Mali. Girl child marriage ranged from 40% in South Africa to 97% in Niger with an average of about 60%. …”
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31207por Ahmad Tarmizi, Nur Nadia, Bastion, Mae-Lynn Catherine, Abdul Aziz, Roslin Azni, Md Din, Norshamsiah, Mohd Khialdin, Safinaz“…For almost a year, a 13-year-old girl experienced gradual, painless, generalized blurred vision in her right eye. …”
Publicado 2021
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31208“…Here, we report a 6-year-old girl with growth retardation in the course of Fanconi syndrome. …”
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31209por Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee“…We report a 5-year-old girl with developmental delay, facial phenotypes resembling Williams syndrome, and cardiac defects. …”
Publicado 2021
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31210por Ciano-Petersen, Nicolás Lundahl, Hamad-Cueto, Omar, Drissi-Reyes, Hania, Doña-Díaz, Álvaro, García-Martín, Guillermina“…We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. …”
Publicado 2021
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31211por Drachmann, Danielle, Carrigg, Austin, Weinstein, David A., Petersen, Jacob Sten, Christesen, Henrik Thybo“…Glucose concentrations ranged 1.2‐2.9 mmol/L; betahydroxybutyrate was up to 5.5 mmol/L during hypoglycemia. One girl had trisomy 21 with no response to i.m. glucagon also had a heterozygous Xp22.23 deletion including GYG2, which protein, glycogenin 2, is a substrate for glycogen synthase. …”
Publicado 2021
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31212“…CASE REPORT: We describe a case of a 13-year-old girl with 2-year history of severe UC who had secondary loss response to both infliximab and adalimumab over 2 years, despite adequate trough serum drug levels and the concomitant use of azathioprine. …”
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31213por Javadikooshesh, Sepehr, Zaimkohan, Hooshang, Pourghorban, Parisa, Bahramim, Fatemeh, Ebadi, Nader“…The proband, a 15-month-old girl, visited the Razi pathobiology and medical genetic laboratory of Karaj, where the study was conducted in 2020. …”
Publicado 2021
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31214“…Moreover, we report a 6-year-old girl, known case of unilateral congenital glaucoma secondary to SWS. …”
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31215“…Patient 2 is a 4-year and 6-month-old girl with developmental delay for 3 years and facial weakness for 1 year. …”
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31216“…We present a case of a 13-year-old girl who experienced a recurrent abdominal pain associated with nausea and vomiting, which was diagnosed eight months later when her laboratory investigation revealed high amylase, calcium, and PTH, which raised a suspicion of pancreatitis secondary to hyperparathyroidism. …”
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31217“…Results: The proband was a girl of 11 months who presented with nephritic and nephrotic syndromes including gross hematuria but had a normal renal function. …”
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31218por Tetteh, Bernard Ofoe, Yebuah, Florence-Barbara, Amissah-Arthur, Maame-Boatemaa, Dey, Dzifa“…This case report reviews a complex case of RP in an 11-year-old girl with sickle cell disease (SF genotype) presenting with bilateral red painful eyes, a painful swollen left ear, and knee pain. …”
Publicado 2021
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31219“…PATIENT CONCERN: A 1-year-old girl was brought to the hospital by her parents, who had been noticing a mass on the surface of her left eyeball since birth. …”
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31220“…CASE REPORT: A 4-year-old girl was admitted in the pediatrics department for fever and bilateral knee joint pain for 3 days. …”
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