Results 71 to 80 of about 77,923 (324)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

ACVIM Small Animal Consensus Recommendations on the Treatment and Prevention of Uroliths in Dogs and Cats. [PDF]

, 2016
In an age of advancing endoscopic and lithotripsy technologies, the management of urolithiasis poses a unique opportunity to advance compassionate veterinary care, not only for patients with urolithiasis but for those with other urinary diseases as well.
Adams, LG, Bartges, JW, Berent, AC, Lulich, JP, Osborne, CA, Westropp, JL   +5 more
core   +1 more source

Preoperative risk classification using neutrophil–lymphocyte ratio and hydronephrosis for upper tract urothelial carcinoma

Japanese Journal of Clinical Oncology, 2018
Background To improve the prediction of outcomes in patients who will undergo radical nephroureterectomy (RNU) for upper tract urothelial carcinoma (UTUC), we examined the preoperative prognostic factors and established a risk classification model ...
Y. Kohada, Tetsutaro Hayashi, K. Goto, K. Kobatake, H. Abdi, Yukiko Honda, K. Sentani, S. Inoue, J. Teishima, K. Awai, W. Yasui, A. Matsubara   +11 more
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment.

Advances in Clinical and Experimental Medicine, 2017
Ureteropelvic junction obstruction (UPJO) causes a reduction in the urine flow from the renal pelvis into the ureter. Untreated UPJO may cause hydronephrosis, chronic infection or urolithiasis and will often result in progressive deterioration of renal ...
W. Krajewski, J. Wojciechowska, J. Dembowski, R. Zdrojowy, Tomasz Szydełko   +4 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Extended pelvic lymph node dissection at the time of robot-assisted radical prostatectomy: Impact of surgical volume on efficacy and complications in a single-surgeon series [PDF]

, 2015
INTRODUCTION: We assessed the impact of surgical volume on perioperative outcomes and complications of robotic extended pelvic lymph node dissection (ePLND).
Danuser, Hansjörg, DI PIERRO, GIOVANNI BATTISTA, GRANDE, PIETRO, Mattei, Agostino, Wirth, Johann Gregory   +4 more
core   +1 more source

Potential Novel Biomarkers of Obstructive Nephropathy in Children with Hydronephrosis

Disease Markers, 2018
Obstructive nephropathy (ON) secondary to the congenital hydronephrosis (HN) is one of the most common causes of chronic kidney disease in children. Neither currently used imaging techniques nor conventional laboratory parameters are sufficient to assess
B. Bieniaś, P. Sikora
semanticscholar   +1 more source

The accessory renal arteries: A systematic review with meta‐analysis

Clinical Anatomy, EarlyView.
Abstract The accessory renal arteries (ARAs) are a well‐described variant of the renal vasculature with clinical implications for radiologists, surgeons, and clinicians. The aim of the present systematic review with meta‐analysis was to estimate the pooled prevalence of ARAs, including their variant number, origin, and termination, and to highlight ...
George Triantafyllou, Ioannis Paschopoulos, Andrzej Węgiel, Łukasz Olewnik, George Tsakotos, Nicol Zielinska, Maria Piagkou   +6 more
wiley   +1 more source

Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction [PDF]

, 2016
BACKGROUND: Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV);
Bleve, Cosimo, Caione, Paolo, Caprio, Maria Grazia, Cerulo, Mariapina, Chiarenza, Salvatore Fabio, ESCOLINO, MARIA, ESPOSITO, CIRO, FARINA, ALESSANDRA, Manna, Angela La, Nappo, Simona Gerocarni   +9 more
core   +1 more source