Background: Barakat syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene, manifesting with a combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia.
Subin Sabu +3 more
doaj +2 more sources
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R +6 more
europepmc +2 more sources
Lumbo-Costovertebral Syndrome with Congenital Inferior Lumbar Hernia in a Female Infant [PDF]
Ahmed Barakat,1 Moayad A Rjoub,1 Alyaman Mohammad,1 Iyad Rjoub,1 Obadah Obeidat,1 Ruba Khasawneh2 1Department of General Surgery and Urology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan; 2Department of Radiology,
Barakat A +5 more
doaj +2 more sources
Hypocalcemia Induced Optic Neuropathy in a Patient with Undiagnosed Hypocalcemia, Deafness, and Renal Syndrome [PDF]
Hypocalcemia, deafness, and renal syndrome, also known as Barakat syndrome, is an autosomal dominant genetic condition characterized by hypocalcemia, sensorineural hearing loss, and renal dysplasia. Papilledema, which refers to optic disc swelling due to
Emmanuel Ssemmondo +3 more
doaj +2 more sources
Spectrum of histopathological findings in pediatric renal biopsies; a five-year single center experience in Egypt [PDF]
Introduction: Medical renal diseases stand as one of the major health problems in pediatric age group considering its morbidity/mortality and the subsequent management plans.
Wael Mostafa Hamza +3 more
doaj +1 more source
Barakat syndrome: clinical polymorphism of the disease
Barakat Syndrome (MIM#146255) is a rare autosomal dominant disease caused by GATA3 gene mutation and manifested by hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R). HDR syndrome characterized by high clinical variability and prognosis.
N. M. Zaikova +3 more
openaire +1 more source
ANALISIS TOKOH DAN PENOKOHAN DALAM NOVEL ZAYNI BARAKAT KARYA JAMAL AL GHITANI [PDF]
Penelitian yang berjudul “Analisis Tokoh dan Penokohan dalam Novel Zayni Barakat Karya Jamal Al Ghitani” bertujuan mendeskripsikan peran tokoh, watak tokoh, dan teknik penokohan dalam novel Zayni Barakat Karya Jamal Al Ghitani. Sumber data penelitian ini
SA'ID FAJAR AL FIKRI, .
core +1 more source
Kepribadian dan Aktualisasi Diri Tokoh Utama dalam Novel Zayni Barakat Karya Jamal Al-Ghitani: (Kajian Psikologi Sastra) [PDF]
Tujuan penelitian ini adalah mengungkapkan kepribadian dan aktualisasi diri tokoh utama menurut teori Humanistik Abraham Maslow. Dalam mencapai hal tersebut dilakukan dua analisis utama. Pertama, analisis kepribadian Zayni Barakat yang meliputi bagaimana
Prasedia, Titik, Rahmawati, Isnaini
core +1 more source
Barakat Syndrome: A Case Report
Abstract not availableBangladesh J Child Health 2015; VOL 39 (2) :108 ...
Choudhury Ali Kawser +4 more
openaire +2 more sources
Mortality in Neonatal Intensive Care Units in Iran: A Systematic Review and Meta-Analysis [PDF]
Background: Neonatal mortality rate is an important health index. The present study was conducted to determine the mortality rate and its causes in neonatal intensive care units (NICUS) in Iran.
Parviz Karimi +3 more
doaj +1 more source

