Results 81 to 90 of about 4,765 (160)

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people [PDF]

, 2019
These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology,
Bergmann, Carsten, Bockenhauer, Detlef, Breysem, Luc, Cadnapaphornchai, Melissa A, Cetiner, Metin, Dudley, Jan, Emma, Francesco, Gimpel, Charlotte, Harris, Peter C, Harris, Tess, Konrad, Martin, König, Jens, Liebau, Max C, Marlais, Matko, Mekahli, Djalila, Metcalfe, Alison, Oh, Jun, Perrone, Ronald D, Schaefer, Franz, Sinha, Manish D, Titieni, Andrea, Torra, Roser, Weber, Stefanie, Winyard, Paul JD   +23 more
core   +2 more sources

Combined paediatric liver-kidney transplantation: analysis of our experience [PDF]

, 2014
Thesis (M.Med.(General Surgery)--University of the Witwatersrand, Faculty of Health Sciences, 2014.Background. Renal insufficiency is increasingly common in end-stage liver disease and allocation of livers to this category of patient has escalated.
Strobele, Bernd
core  

Routine 36‐week scan: diagnosis of fetal abnormalities

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.
ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki, R. Mitsigiorgi, J. Goadsby, K. Hamed, R. Akolekar, K. H. Nicolaides   +5 more
wiley   +1 more source

Autosomal-recessive polycystic kidney disease in children

Pediatrician (St. Petersburg), 2016
The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and me­thods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of ...
Mohamed A Tilouche, Nadejda D Savenkova, Natalya Y Natochina, Elvira F Andreeva, Igor V Dug   +4 more
openaire   +2 more sources

Aldosterone as a renal growth factor [PDF]

, 2010
Aldosterone regulates blood pressure through its effects on the cardiovascular system and kidney. Aldosterone can also contribute to the development of hypertension that leads to chronic pathologies such as nephropathy and renal fibrosis.
Dooley, Ruth, Harvey, Brian J, Thomas, Warren   +2 more
core   +1 more source

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Yassmine Akkari   +13 more
wiley   +1 more source

Translation, cultural adaptation and aplication of a pain questionnaire for patients with polycystic kidney disease [PDF]

, 2010
INTRODUCTION: Pain is a common symptom in patients with autosomal dominant polycystic kidney disease (ADPKD), affecting around 60% of cases. OBJECTIVE: Translate a pain questionnaire developed and validated for ADPKD in USA into Portuguese and to perform
Eloi, Samara Rodrigues Moreira, Heilberg, Ita Pfeferman, Nishiura, José Luiz   +2 more
core   +2 more sources

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.
• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun   +9 more
wiley   +1 more source

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
core  

Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice [PDF]

, 2003
Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris inTg737 mutant mice.BackgroundRenal cysts and shortened cilia on renal tubular epithelia have been observed in Tg737orpk (orpk) mutant mice, suggesting a ...
Brown, Nicole E., Murcia, Noel S.
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