Results 51 to 60 of about 44,061 (253)
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Shear wave velocity measurements using acoustic radiation force impulse in young children with normal kidneys versus hydronephrotic kidneys [PDF]
Ultrasonography, 2014 Purpose: To measure shear wave velocities (SWVs) by acoustic radiation force impulse (ARFI) ultrasound elastography in normal kidneys and in hydronephrotic kidneys in young children and to compare SWVs between the hydronephrosis grades.
Beomseok Sohn +4 more
doaj +1 more source
Hydronephrosis Index as a New Method for the Evaluation and Follow-up of Fetal Hydronephrosis [PDF]
Iranian Journal of Neonatology, 2020 Background: The present study was conducted to compare the efficiency of hydronephrosis index (HI) with those of pelvic anteroposterior (AP) diameter and parenchymal thickness in the diagnosis of fetal hydronephrosis in the prenatal period, as well as 1,
Farideh Gharekhanloo
doaj +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +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 +5 more
wiley +1 more source
Perfil dos pacientes submetidos à pieloplastia no hospital infantil Joana de Gusmão no período de 1990-2009 [PDF]
, 2010 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Rodrigues, Gilberto José
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Journal of Medical Case Reports, 2023 Background Absolute polycythemia can be primary or secondary. Erythropoietin-producing diseases (for example, hypoxia) are the major cause of secondary polycythemia. There are reports of polycythemia secondary to hydronephrosis. However, to our knowledge,
Yuriko Hajika +3 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson +22 more
wiley +1 more source
Frontiers in Oncology, 2023 ObjectivesTo evaluate the predictive role of pre-nephroureterectomy (NU) hydronephrosis on post-NU renal function (RF) change and preserved eligibility rate for adjuvant therapy in patients with upper tract urothelial carcinoma (UTUC).Patients and ...
Pai-Yu Cheng +59 more
doaj +1 more source