Results 111 to 120 of about 6,478,235 (361)
Delayed Diagnosis of McCune–Albright Syndrome
Case Reports in Genetics, 2021 Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies.
Bereket Fantahun, Seblewongel Desta
doaj +1 more source
Childhood hypopigmented mycosis fungoides: a commonly delayed diagnosis [PDF]
, 2014 Primary cutaneous lymphomas (PCLs) are exceedingly rare in children and adolescents, with mycosis fungoides (MF) being the most frequent PCL diagnosed in childhood. There are numerous unusual clinical variants of MF, including the hypopigmented type form
Gameiro, A +3 more
core +1 more source
Molecular Oncology, EarlyView.We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck +12 more
wiley +1 more source
Esophageal atresia: Early outcome analysis from a high-volume tertiary care institute in India
Saudi Journal for Health Sciences, 2018 Context: Despite the progress made in the field of surgical techniques and neonatal care, conditions such as prematurity, very low birth weight, and associated anomalies compounded with delayed diagnosis may negatively influence the successful outcome of
Rahul Gupta
doaj +1 more source
Respiratory care, 2019 BACKGROUND: Alpha-1 antitrypsin deficiency is frequently underrecognized. Individuals with symptoms often experience long diagnostic delays. Although a delayed diagnosis is logically presumed to be associated with adverse effects, confirmatory evidence ...
V. Tejwani +4 more
semanticscholar +1 more source
Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations. [PDF]
, 2017 BackgroundLittle is known about the contribution of racial and socioeconomic disparities to severity and outcomes in children with Cushing disease (CD).MethodsA total of 129 children with CD, 45 Hispanic/Latino or African-American (HI/AA) and 84 non ...
Alexander S Karageorgiadis +37 more
core +1 more source
Molecular Oncology, EarlyView.Liquid biopsy enables minimally invasive, real‐time molecular profiling through analysis of circulating biomarkers in biological fluids. This Perspective highlights the importance of training pathologists through integrative educational programs, such as the European Masters in Molecular Pathology, to ensure effective and equitable implementation of ...
Marius Ilié +13 more
wiley +1 more source
Adnexal Torsion in Pediatric Age: Does Bolli's Score Work? Report of Two Cases [PDF]
, 2019 Adnexal torsion is a surgical emergency requiring early diagnosis in order to avoid demolitive surgery. Adnexal torsion's diagnosis could be very difficult in pediatric patients because children cannot explain symptoms accurately.
Borriello, M +6 more
core +1 more source
Effective therapeutic targeting of CTNNB1‐mutant hepatoblastoma with WNTinib
Molecular Oncology, EarlyView.WNTinib, a Wnt/CTNNB1 inhibitor, was tested in hepatoblastoma (HB) experimental models. It delayed tumor growth and improved survival in CTNNB1‐mutant in vivo models. In organoids, WNTinib outperformed cisplatin and showed enhanced efficacy in combination therapy, supporting its potential as a targeted treatment for CTNNB1‐mutated HB.
Ugne Balaseviciute +17 more
wiley +1 more source
Non-verbal episodic memory deficits in primary progressive aphasias are highly predictive of underlying amyloid pathology [PDF]
, 2016 Diagnostic distinction of primary progressive aphasias (PPA) remains challenging, in particular for the logopenic (lvPPA) and nonfluent/agrammatic (naPPA) variants.
Ahmed +24 more
core +1 more source