Results 41 to 50 of about 255,645 (319)
Surgical Case Reports, 2020 Background Patients with prolonged inflammatory bowel disease have a greater risk of colorectal cancer, known as colitis-associated cancer. Here we describe an unusual case of colitis-associated cancer. Case presentation The subject is a 41-year-old male
Yoshio Shimizu +7 more
doaj +1 more source
Lung India, 2010 Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities.
Dixit Ramakant, Dixit Kalpana, Paramez A
openaire +3 more sources
Genetics in Medicine, 2010 The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah, Krakow, David L, Rimoin
openaire +2 more sources
Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
Aging and Cancer, EarlyView.NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang +3 more
wiley +1 more source
The prognostic value of p16ink4a marker in the diagnosis of cervical dysplasia
Patologìâ, 2012 The morphological study of 110 cervical biopsies from patients with suspected cervical intraepithelial neoplasia (dysplasia) was performed with the help of immunohistochemical method using marker р16ink4a.
E. A. Dyadyk, Yu. I. Pokolodnaya
doaj +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Bronchopulmonary Dysplasia: Definitions and Epidemiology
, 2016 Bronchopulmonary dysplasia (BPD) is one of the most common complications of prematurity that results from abnormal lung development and impaired lung function.
Claure, Nelson +3 more
core +1 more source
Sphenoid Bone Dysplasia: A Rare Cause of Compressive Optic Neuropathy Mimicking Glaucoma [PDF]
, 2023 Fibrous dysplasia is a benign, rare bone disease in which bone is replaced by fibro-osseous tissue to varying degrees. It can present differently depending on the amount of compression caused by the fibro-osseous tissue. Patients are usually asymptomatic,
Pelin Kıyat +7 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen +7 more
wiley +1 more source
Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis
Orphanet Journal of Rare DiseasesBackground Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat +4 more
doaj +1 more source