Results 241 to 250 of about 118,543 (323)

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, Dedui Zhang, Shuyan Li   +9 more
wiley   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Low-grade duodenal neuroendocrine tumor in a 72-year-old man: A case report. [PDF]

Int J Surg Case Rep
Al-Jawad M, Hashemagha D, Salem A, Seijari N, Hussein S, Niazi A.   +5 more
europepmc   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia. [PDF]

Endocrinol Diabetes Metab Case Rep
de Oliveira WL, de Aguiar Silva EM, de Melo Oliveira CE, Alves Filho W, Martins Costa MC, Carvalho de Alencar R, de Almeida Vieira CA, Pinto Quidute AR.   +7 more
europepmc   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Trends in Initial Hospitalizations of Patients with Newly Diagnosed Sjogren's Disease in Poland Between 2012 and 2023: A Retrospective Data Analysis. [PDF]

J Clin Med
Domańska-Poboża J, Kapica Ł, Kanecki K, Lewtak K, Goryński P, Wisłowska M.   +5 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Near-Infrared Autofluorescence for Parathyroid Detection During Endocrine Neck Surgery: A Randomized Clinical Trial.

JAMA Surg
Cousart AG, Kiernan CM, Willmon PA, Thomas G, Wang TS, Gauger PG, Duh QY, Underwood HJ, Jackson A, Patel A, Mahadevan-Jansen A, Solórzano CC.   +11 more
europepmc   +1 more source

A Novel Multiple Endocrine Neoplasia Type 1 Gene Variant Found in Scalp Pulmonary Neuroendocrine Tumor Metastasis. [PDF]

JCEM Case Rep
Takahashi Y, Horikawa Y, Matsuyama Y, Asai K, Endo J, Yabe D.   +5 more
europepmc   +1 more source