Results 151 to 160 of about 59,016 (285)

Causes and outcome of prenatally diagnosed hydronephrosis

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2009
Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the
Ahmadzadeh Ali   +2 more
doaj  

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
DAIPT is a rare genetic disease caused by PIEZO2 gene mutations. We identified two novel variants of the gene, a nonsense and an intronic substitution, in a child with suspected DAIPT. Functional studies confirmed the effect of the nonsense variant and demonstrated the pathogenicity of the intronic one by providing a conclusive diagnosis of DAIPT. This
Michela Bellardita   +19 more
wiley   +1 more source

Clinical Outcomes and Follow‐Up in Children With Prenatally Detected Unilateral Ureteropelvic Junction Obstruction

open access: yesActa Paediatrica, Volume 114, Issue 8, Page 2066-2072, August 2025.
ABSTRACT Aim To explore the possibility of reducing the diagnostic burden in children with prenatally detected unilateral ureteropelvic junction obstruction. Methods Children with unilateral ureteropelvic junction obstruction (2012–2020) were identified from a prenatal hydronephrosis registry.
Tim Malmström   +4 more
wiley   +1 more source

External validation of current quality care metrics after radical nephroureterectomy

open access: yesBJU International, Volume 136, Issue 2, Page 261-270, August 2025.
Objectives To externally validate the tetrafecta and pentafecta frameworks for assessing the quality of radical nephroureterectomy (RNU) and their correlation with oncological outcomes in patients with localised upper tract urothelial carcinoma (UTUC).
Igor Duquesne   +20 more
wiley   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

open access: yesClinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò   +57 more
wiley   +1 more source

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