Results 41 to 50 of about 1,142,948 (99)
Rare Metals, Volume 45, Issue 1, January 2026.ABSTRACT The escalating issue of drug‐resistant pathogens, largely driven by the overuse of conventional antibiotics, has become a significant global health threat. Developing alternative therapeutic strategies and fabricating natural biological enzyme materials that mimic the high efficiency, selectivity, and mild‐operating conditions of natural ...
Shuai He +11 more
wiley +1 more source
Three-dimensional facial morphology in Cantú syndrome [PDF]
, 2020 Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K ATP) channels, respectively.
van Haelst, Mieke M. +6 more
core
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 73-78, January 2026.ABSTRACT Objective Prenatal single‐nucleotide polymorphism (SNP)‐based cell‐free DNA (cfDNA) screening can identify genome‐wide paternal uniparental disomy (GW‐UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW‐UPDpat syndrome ...
P. Benn +5 more
wiley +1 more source
Case Reports in Pulmonology, Volume 2026, Issue 1, 2026.Lymphomatoid granulomatosis (LYG) is a rare, Epstein–Barr virus (EBV)–associated lymphoproliferative disorder characterized by angiocentric and angiodestructive infiltrates that most commonly involve the lungs. We report a case of a 38‐year‐old female with a history of latent tuberculosis who presented with a 3‐day history of fever, productive cough ...
Matthew Lee +5 more
wiley +1 more source
International Journal of Cancer, Volume 157, Issue 12, Page 2550-2557, 15 December 2025.What's New? Hereditary diffuse gastric cancer, characterized histologically by the presence of signet ring cell carcinoma, is a syndrome primarily caused by pathogenic variants in the CDH1 gene. Preventive strategies include risk‐reducing total gastrectomy and endoscopic surveillance.
Joaquín Castillo‐Iturra +23 more
wiley +1 more source
Alzheimer's &Dementia, Volume 21, Issue S2, December 2025.Abstract Background In vivo biomarkers that can detect long‐term neuropathologies from repetitive head impact (RHI) exposure are needed, especially for the neurodegenerative tauopathy chronic traumatic encephalopathy (CTE). Here, we evaluated plasma p‐tau217 as a potential biomarker for CTE p‐tau pathology, and examined the concordance between plasma p‐
Annalise E. Miner +27 more
wiley +1 more source
Modeling of Cantú Syndrome in Zebrafish
, 2018 Although rare, Cantú syndrome (CS) is a debilitating syndrome without any specific therapy, caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9 genes that encode ATP-sensitive potassium (KATP) channels.
Singareddy, Soma Sekhara
core +1 more source
Validity of the 2021 Traumatic Encephalopathy Syndrome Criteria for CTE pathology
Alzheimer's &Dementia, Volume 21, Issue S3, December 2025.Abstract Background Validity of the 2021 NINDS Traumatic Encephalopathy Syndrome (TES) criteria, proposed to diagnose chronic traumatic encephalopathy (CTE) in life, has not been assessed. Methods Brain donors were selected across 6 brain banks (15+ donors each), 9 repetitive head impact (RHI)/traumatic brain injury (TBI) groups (15+ donors each ...
Jesse Mez +28 more
wiley +1 more source
Alzheimer's &Dementia, Volume 21, Issue S7, December 2025.Abstract Background Exposure to repetitive head impacts (RHI) is associated with developing chronic traumatic encephalopathy (CTE) neuropathology. Cognitive and behavioral symptoms have been associated with CTE neuropathology, but efforts to define the specific clinical syndrome are ongoing.
Alexa Puleio +21 more
wiley +1 more source
Cantú Syndrome and Endocrine Monitoring: A Pediatric Case Report
Introduction: Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare genetic disorder characterized by generalized hypertrichosis, macrosomia, cardiomegaly, and distinctive coarse facial features.
Sonia Heras-Gonzalez +3 more
core +1 more source