Results 141 to 150 of about 55,376 (256)

Malignancies in Chinese patients with neurofibromatosis type 1 [PDF]

open access: yes, 2013
published_or_final_versio
Chan, GCF   +3 more
core  

Solitary Nodule in the Hard Palate

open access: yes
Oral Diseases, EarlyView.
Sara Lia Gonçalves de Lima   +6 more
wiley   +1 more source

A Biochemically “Silent” Aortocaval Paraganglioma in a 19‐Year‐Old Female Causing Intraoperative Hypertensive Crisis: A Rare Case Report

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
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

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
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

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
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

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

open access: yesClinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
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

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
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]

open access: yes, 2019
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

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
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

open access: yesJournal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 823-834, May 2026.
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

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