Results 61 to 70 of about 726,961 (271)

Endovascular management of an unsual case of spontaneous Retroperitoneal Haemorrhage due to Fibromuscular Dysplasia

CVIR Endovascular, 2020
Background Fibromuscular dysplasia (FMD) is an uncommon vascular disease that results in stenosis, dissection or aneurysmal degeneration. However, it can sometimes manifest atypically, as we show in this case. Case presentation A 24-year old patient with
Juan David Molina-Nuevo, Lorena López-Martínez, María José Pedrosa-Jiménez, Enrique Juliá-Molla   +3 more
doaj   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome

Frontiers in Genetics
This article reports a case of a young woman who was admitted to the hospital with “sudden convulsions for 3 h.” She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism–
Jinyan Yang, Yanjie Mei, Feifei Tang, Xinhong Guo, Yanhua Kong, Ying Deng   +5 more
doaj   +1 more source

End-stage renal disease inthe course ofurinary tract defects inWolf–Hirschhorn syndrome – case report

Pediatria i Medycyna Rodzinna, 2014
Wolf–Hirschhorn syndrome is a complex development disorder containing facial dysmorphy, development retardation, growth impairment, muscular hypotonia and occurrence of paroxysmal disorders. Characteristic dysmorphic features are hypertelorism, oblique
Katarzyna Jungiewicz, Irena Makulska, Anna Medyńska, Danuta Zwolińska   +3 more
doaj   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Renal dysplasia with extrarenal calyces

Saudi Medical Journal, 2006
We describe a case of simple renal dysplasia with extrarenal calyces of the left kidney in a 2-year-old boy. Other anomalies also included pelviureteral junction obstruction and ectopic ureterocele on the same side, as well as grade V vesico-ureteral reflux on the opposite side.
Saud A, Taha, Mohamed H, Hashish, Hamed M, Eldarawany, Alaa-Eldin M, Barakat, Ali A, Al-Zahrani   +4 more
openaire   +2 more sources

Model‐Informed Dose Optimization of Anakinra in Preterm Neonates Implications for Safe and Effective Dosing

Clinical Pharmacology &Therapeutics, EarlyView.
Anakinra, an interleukin‐1 receptor antagonist, shows promise for reducing inflammatory complications of premature birth. However, the pharmacokinetics (PK) of anakinra in neonates has not been characterized, limiting evidence‐based dosing. This study aimed to develop a population PK model for anakinra to guide dosing in preterm neonates.
Jia Li, David K. Metz, Elys Green, Gergely Toldi, Robert Galinsky, Megan Clark, Rebecka Atkinson, Ina Rudloff, Josephine C. Owen, Sara K. DiSimone, Samuel C. Forster, Steven X. Cho, Atif Majid, Graeme R. Polglase, Marcel Favilla, Pramod Pharande, Atul Malhotra, Calum T. Roberts, Scott H. Stansfield, Arvind Sehgal, Kenneth Tan, Alistair J. Gunn, Philip J. Berger, Alex Veldman, Rod W. Hunt, Claudia A. Nold‐Petry, Marcel F. Nold, Carl M. J. Kirkpatrick   +27 more
wiley   +1 more source

Posterior Urethral Valves and Fertility: Insight on Paternity Rates and Seminal Parameters

Diseases
Background: Posterior urethral valves (PUVs) represent the most common cause of male congenital lower urinary tract obstruction, often responsible for renal dysplasia and chronic renal failure.
Marcello Della Corte, Simona Gerocarni Nappo, Antonio Aversa, Sandro La Vignera, Francesco Porpiglia, Cristian Fiori, Nicola Mondaini   +6 more
doaj   +1 more source

Hypoparathyroidism, deafness and renal dysplasia syndrome with bilateral cataract and bicornuate uterus caused by a de novo GATA3 mutation [PDF]

Exploration of Endocrine and Metabolic Diseases
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare genetic disorder caused by haploinsufficiency of the GATA3 gene. A very limited number of cases have been reported in the literature to date.
Rajesh Chetiwal, Amit Kumar, Shweta Tanwar, Priyank Rastogi   +3 more
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source