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    Neonatal Thyrotoxicosis with Severe Supraventricular Tachycardia: Case Report and Review of the Literature
    (2015) Abbasoglu, Aslihan; Ecevit, Ayse; Tugcu, Ali Ulas; Erdogan, Ilkay; Kinik, Sibel Tulgar; Tarcan, Aylin; 0000-0002-2232-8117; 0000-0001-6887-3033; 25153577; AAJ-2305-2021; AAJ-4616-2021; ABB-2220-2021; ABI-2113-2020
    Neonatal thyrotoxicosis is a rare condition caused by the transplacental passage of thyroid stimulating immunoglobulins from mothers with Graves' disease. We report a case of neonatal thyrotoxicosis with concurrent supraventricular tachycardia (SVT). The female infant, who was born by section due to breech delivery and meconium in the amniotic fluid at 36 weeks of gestation, presented with tachycardia on day 7. Her heart rate was between 260 and 300 beats/min, and an electrocardiogram revealed ongoing SVT. Sotalol was effective after two cardioversions in maintaining sinus rhythm. Thyroid function studies revealed hyperthyroidism in the infant, and her mother was found to have Graves' disease. Since symptoms and signs can vary, especially in preterm infants with neonatal hyperthyroidism, we want to emphasize the importance of prenatal care and follow-ups of Graves' disease associated pregnancies and management of newborns after birth.
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    Congenital Hyperinsulinism in A Newborn with A Novel Homozygous Mutation (P.Q392H) in The ABCC8 Gene
    (2014) Ince, Deniz Anuk; Sahin, Nursel Muratoglu; Ecevit, Ayse; Kurt, Abdullah; Kinik, Sibel Tulgar; Flanagan, Sarah E.; Hussain, Khalid; Tarcan, Aylin; https://orcid.org/0000-0002-4369-2110; https://orcid.org/0000-0002-8215-0146; https://orcid.org/0000-0002-2232-8117; https://orcid.org/0000-0002-4430-444X; https://orcid.org/0000-0002-8670-6340; 24945427; I-6746-2016; AAA-1266-2019; AAJ-4616-2021; HIU-0129-2022; AFK-0591-2022
    Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.