Results 61 to 70 of about 34,821 (217)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

THE VALUE OF URINARY CYTOLOGY AND HYDRONEPHROSIS TO PREDICT MUSCLE INVASIVE BLADDER CANCER

Jurnal Urologi Indonesia, 2016
Objective: We evaluated the value of urinary cytology, and presence of hydronephrosis to predict muscle invasive bladder cancer. Material & methods: We retrospectively analyzed data of 167 patients that diagnosed bladder cancer from medical record at ...
ferdi ardiansyah, H R Danarto
doaj   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Hydration-induced hydronephrosis in healthy adults: a diagnostic pitfall in renal ultrasound imaging

BMC Medical Imaging
Background Hydronephrosis is a common finding on renal ultrasound, but its physiological causes-such as hydration-induced distention-remain under-recognized in healthy individuals.
Liqa A. Rousan, Khaled J. Zaitoun, Sofyan Freihat, Mohammad A. Albatayneh, Abdel Rahman M. Al Serhan, Aghyad Alsalkhadi, Saad Tayyem, Ali M. Abdel Kareem   +7 more
doaj   +1 more source

Bilateral hydronephrosis caused by vaginal prolapse

International Brazilian Journal of Urology, 2003
INTRODUCTION: Even though it is uncommon, uterine prolapse can cause compression of ureters and bilateral hydronephrosis, predisposing to arterial hypertension and renal failure.
Helio Begliomini, Bruno D. S. Begliomini
doaj   +1 more source

UltRaSoUnd‐guided evaLuAtion of metabolic health in a cohort of midlife women with HIV: The URSULA study

HIV Medicine, EarlyView.
Abstract Objectives We aimed to determine the prevalence of metabolic disorders, liver steatosis and metabolic dysfunction‐associated steatotic liver disease (MASLD) in a cohort of middle‐aged women with HIV (WoWH) and to explore associations between liver steatosis, visceral fat depots and carotid atherosclerosis.
Mariacristina Poliseno, Davide Capruzzi, Antonio Cianciaruso, Nicola Colavito, Felicia Dalitto, Vincenzo Giliberti, Vittoria Lobalsamo, Giuliana Metrangolo, Marica Noviello, Alessandra Vigna, Maurizio Zarcone, Francesco Di Gennaro, Vincenzo Ostilio Palmieri, Annalisa Saracino   +13 more
wiley   +1 more source

The Comparison of Double J Stent Insertion and Conservative Treatment Alone in Severe Pure Gestational Hydronephrosis: A Case Controlled Clinical Study

The Scientific World Journal, 2014
Objective. Management options of gestational hydronephrosis are based on the coexisting stone disease, pyelonephritis, and renal disease. However, the management option and its consequences in the absence of a coexisting disease state are not clear.
Kürşat Çeçen, Kahraman Ülker
doaj   +1 more source

Predictive utility of computed tomography‐derived renal parenchymal volume for long‐term postoperative renal function in cats with hydronephrosis

Journal of Small Animal Practice, EarlyView.
Objectives To evaluate the utility of preoperative feline renal parenchymal volume derived from computed tomography in predicting the serum creatinine concentration during the long‐term postoperative period. Materials and Methods In this retrospective clinical study, we included 13 client‐owned cats with normal kidneys and 24 cats with hydronephrosis ...
T. Nagumo, Y. Hoshino, S. Kobayashi, R. Fujiwara, M. Yamasaki, K. Nakata, M. Katayama   +6 more
wiley   +1 more source