Results 51 to 60 of about 59,016 (285)

Clinlabomics‐Enabled Blending Ensemble Learning for Low‐Cost Pan‐Cancer Detection and Classification Using Routine Clinical Laboratory Data

Advanced Intelligent Systems, EarlyView.
Researchers develop clinlabomics assisted for cancer identification, an artificial intelligence‐powered system using routine clinical lab data to detect and identify 10 cancer types. Tested on 19 199 individuals, it achieves 90.39% sensitivity and 82.41% specificity in cancer detection, with 72.57% accuracy in identifying specific cancer types ...
Bowen Zhang, Lin Li, Long Cheng, Yujie Liu, Zhaoqing Liu, Jiangpeng Wu, Pengyi Zhang, Jiarui Wang, Dekui Zhang, Shuyan Li   +9 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Extremely Rare Neonatal Case With Pyloric Atresia, Heart Defects, Hypotonia, Jaundice, and Acidosis. [PDF]

Clin Case Rep
ABSTRACT Pyloric atresia (PA) is an exceptionally rare congenital cause of gastric outlet obstruction, often associated with syndromic conditions such as epidermolysis bullosa (EB). This case highlights a diagnostically challenging presentation of *non‐syndromic pyloric atresia* in a neonate, complicated by a moderate mid‐muscular ventricular septal ...
Abouodeh S, Alshami Y, Hroub O, Hroub M, Hammouri AG, Shaltaf A, Shihadeh W, Dawod N.   +7 more
europepmc   +2 more sources

Emergency Physician Interpretation of Point‐of‐care Ultrasound for Identifying and Grading of Hydronephrosis in Renal Colic Compared With Consensus Interpretation by Emergency Radiologists

Academic Emergency Medicine, 2018
OBJECTIVE The ability of emergency physicians (EPs) to identify hydronephrosis using point-of-care ultrasound (POCUS) has been assessed in the past using computed tomography (CT) scans as the reference standard.
S. Pathan, B. Mitra, S. Mirza, U. Momin, Z. Ahmed, Lubna G. Andraous, Dharmesh Shukla, M. Shariff, Magid M Makki, Tinsy T. George, S. S. Khan, S. Thomas, P. Cameron   +12 more
semanticscholar   +1 more source

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

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

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

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

Is intravesical prostatic protrusion a risk factor for hydronephrosis and renal insufficiency in benign prostate hyperplasia patients?

Journal of the Chinese Medical Association, 2019
Background: Some patients with benign prostatic hyperplasia (BPH) and lower urinary tract symptoms hesitate to undergo surgical treatment until acute urinary retention (AUR) occurs.
Chin-Heng Lu, H. Wu, Tzu-Ping Lin, Yi-Hsiu Huang, Hsiao‐Jen Chung, J. Kuo, William J. Huang, Shing-Hwa Lu, Yen‐Hwa Chang, Alex T L Lin   +9 more
semanticscholar   +1 more source

Ethnomedicinal Uses, Phytochemistry, Pharmacological Activities, and Toxicology of the Subfamily Gomphrenoideae (Amaranthaceae): A Comprehensive Review

Chemistry &Biodiversity, EarlyView.
ABSTRACT The subfamily Gomphrenoideae is composed of about 480 accepted species, many of which have been historically used as medicinal plants, reason why they have been studied in terms of chemical profile, biological activity, and safety. This review consolidates the advances in research on this subfamily over the past 47 years, emphasizing its ...
Dayanna Isabel Araque Gelves, Giulia Cristina de Andreoli Souza, Alvaro Jose Hernandez Tasco, Marcos José Salvador   +3 more
wiley   +1 more source