Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Multiple renal cysts"'
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy. However, the potential genetic influencers and/or determinants in NCPH with MRC are largely unkno
Externí odkaz:
https://doaj.org/article/169b08c977ee4032b6203a1baa16e04f
Publikováno v:
BMJ case reports. 14(7)
Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance—autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b77ea2a009fd707f44bb9fed289acb
https://pubmed.ncbi.nlm.nih.gov/34290017
https://pubmed.ncbi.nlm.nih.gov/34290017
Publikováno v:
Annals of Palliative Medicine. 10:11232-11238
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organs and is caused by inactive mutations in the TSC1 or TSC2 genes. The main symptoms of TSC are neurocutaneous syndrome and benign hamartoma formation. Notabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22b4379c325bb5e86850ce56de8237f7
https://doi.org/10.21037/apm-21-2814
https://doi.org/10.21037/apm-21-2814
Autor:
Kwaiyu Chan, Chonin Kuok
Publikováno v:
Pediatric Reports
Pediatric Reports, Vol 13, Iss 28, Pp 203-209 (2021)
Pediatric Reports, Vol 13, Iss 28, Pp 203-209 (2021)
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-yea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74ee27d78b52f01b564f4760e8addd8
http://europepmc.org/articles/PMC8163158
http://europepmc.org/articles/PMC8163158
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy. However, the potential genetic influencers and/or determinants in NCPH with MRC are largely unkno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507af0deca15758fbbaaecebd1098f79
https://doi.org/10.3389/fgene.2021.775470
https://doi.org/10.3389/fgene.2021.775470
Autor:
Yuka Kamijo, Akane Yanai, Kiyotaka Uchiyama, Yuji Hakozaki, Yoshitaka Ishibashi, Daisuke Yamada
Publikováno v:
CEN Case Rep
Diagnosis of renal cell carcinoma (RCC) in patients with autosomal dominant polycystic kidney disease (ADPKD) is challenging and often delayed due to accompanying multiple renal cysts. Sometimes, it is difficult to distinguish RCC from cyst infection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a6fcabc6b5ac5826825818fc7cbd82
https://doi.org/10.1007/s13730-020-00544-z
https://doi.org/10.1007/s13730-020-00544-z
Autor:
Michele Pinelli, Annalaura Torella, Nicola Brunetti-Pierri, Marianna Alagia, Bruno Corrado, Brunella Franco, Vincenzo Nigro, Ennio Del Giudice, Gerarda Cappuccio, Tudp, Alessandra D'Amico, Diletta Apuzzo
Publikováno v:
American Journal of Medical Genetics. Part a
Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding diffic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a362386a8bc6d1aa0efef5d42c7b5101
https://doi.org/10.1002/ajmg.a.61536
https://doi.org/10.1002/ajmg.a.61536
Publikováno v:
American Journal of Forensic Medicine & Pathology. 41:56-59
Postmortem personal identification in forensic science is performed using various methods. However, severely burnt bodies are hard to identify using odontological or skeletal features because of carbonization, and sometimes DNA profiling is impractic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c10f8620e9d6330ebe928ab62ed527e
https://doi.org/10.1097/paf.0000000000000522
https://doi.org/10.1097/paf.0000000000000522
Autor:
Delphine Laniesse, Leonardo Susta, Alex zur Linden, Ameet Singh, Amanda D. Wong, Hugues Beaufrère
Publikováno v:
Journal of the American Veterinary Medical Association. 259(12)
CASE DESCRIPTION A 5.5-year-old 0.929-kg spayed female domestic ferret (Mustela putorius furo) underwent serial abdominal ultrasonographic and clinicopathologic examinations after multiple renal cysts were detected bilaterally during a routine examin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e94d7b9ccd9e900381d678cb04e093
https://pubmed.ncbi.nlm.nih.gov/34757937
https://pubmed.ncbi.nlm.nih.gov/34757937
Publikováno v:
IJU Case Reports, Vol 3, Iss 1, Pp 8-11 (2020)
IJU Case Reports
IJU Case Reports
Introduction Laparoscopic ureterocalicostomy is a useful alternative to laparoscopic pyeloplasty for treating ureteropelvic junction obstruction under certain conditions. One concern regarding this technique is the inevitability of amputation of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1ee9861658a2a5e39bbf8e7e704fb7
https://doi.org/10.1002/iju5.12129
https://doi.org/10.1002/iju5.12129