BMJ Case Rep 2021 Jul 12;14(7). Epub 2021 Jul 12.
Department of Neonatal Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.
Clin EEG Neurosci 2021 Sep 17:15500594211043308. Epub 2021 Sep 17.
Medical Faculty, Department of Neurology, Epilepsy Center, Bursa Uludag University, Bursa, Turkey.
Ulegyria results from perinatal hypoxic-ischemic brain injury in term infants. The specific mushroom-shaped configuration of ulegyria results from small atrophic circumvolutions at the bottom of a sulcus underlying an intact gyral apex. Clinically, ulegyria is generally associated with epilepsy. Read More
Malariaworld J 2017 1;8:14. Epub 2017 Aug 1.
LeTourneau University, Longview, Texas, USA.
Background: We report cases of gestational and congenital malaria with twin prematurity, low birth weight and bacterial co-infection. Congenital malaria is often misdiagnosed for lack of specific symptoms and a general lack of awareness of this presumably uncommon condition, and its diagnosis and prognosis become even more complex in the event of bacterial co-infections.Case Presentation: A 35-weeks pregnant woman with sickle-cell disease and a history of spontaneous abortions was admitted at Vanga Hospital in DR Congo. Read More
Ultrasound Obstet Gynecol 2021 Sep 16. Epub 2021 Sep 16.
Fetal Medicine Unit, St George's Hospital, St George's University of London, London, UK.
Objective: Fetal intracranial hemorrhage is associated with increased risk of perinatal mortality and morbidity. Healthcare professionals often find it challenging to counsel parents due to its rarity and diverse presentation. The aim of this systematic review and meta-analysis was to investigate the perinatal outcomes of fetuses with intracranial hemorrhage. Read More
Med Pharm Rep 2021 Aug 10;94(Suppl No 1):S36-S39. Epub 2021 Aug 10.
2 Pediatric Clinic, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Pediatricians should be aware of the clinical presentation, emergency intervention, and long-term management of hyperammonemia. In Romania, there are many challenges regarding hyperammonemia: low awareness of the need for prompt diagnosis and adequate management, communication problems between different physicians, lack of knowledge and availability of diagnostic tools and medications, lack of dietitians trained in metabolic diseases. Urea cycle disorders (UCD) are severe diseases, with high mortality in neonates and possible neurologic complications in the survivors. Read More
Br J Ophthalmol 2021 Sep 15. Epub 2021 Sep 15.
Advanced Eye Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Objective: To compare and variants in a cohort of neonatal-onset (NO) and infantile-onset (IO) primary congenital glaucoma (PCG).Methods: This prospective observational study included 43 infants with PCG (14 NO and 29 IO) presenting between January 2017 and January 2019 with a minimum 1-year follow-up. and genes were screened using Sanger sequencing with in-silico analysis of the variants using Polymorphism Phenotyping v. Read More