Results 141 to 150 of about 55,376 (256)
Malignancies in Chinese patients with neurofibromatosis type 1 [PDF]
published_or_final_versio
Chan, GCF +3 more
core
Solitary Nodule in the Hard Palate
Oral Diseases, EarlyView.
Sara Lia Gonçalves de Lima +6 more
wiley +1 more source
ABSTRACT Paragangliomas may appear biochemically silent, yet still behave as functional tumors with severe intraoperative consequences. Normal preoperative catecholamine screening does not exclude the risk of hypertensive crisis during surgery.
Abdul Basit +5 more
wiley +1 more source
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley +1 more source
Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls
ABSTRACT Rhabdomyosarcoma (RMS) is a soft tissue neoplasm accounting for about 8% of solid tumors in children. There are mainly four histologic subtypes of RMS: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic. The genitourinary tract is the second most affected primary site of RMS. Genitourinary RMS is more common in young boys than girls.
George Evele +3 more
wiley +1 more source
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley +1 more source
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Reproducibility of cognitive endpoints in clinical trials: Lessons from neurofibromatosis type 1 [PDF]
OBJECTIVE: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments.
et al, +2 more
core +1 more source
Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos +16 more
wiley +1 more source
Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors
In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie +3 more
wiley +1 more source

