Results 121 to 130 of about 23,942 (228)

Lymphangioma‐Induced Macroglossia in an Adolescent: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Lymphangioma is a congenital malformation of the lymphatic system, commonly affecting the head and neck region. Macroglossia due to lymphangioma in adolescence is uncommon, making this case noteworthy. This condition can affect oral function, speech, and quality of life, making early diagnosis and intervention essential. This report highlights
Arezoo Heidary, Mojtaba Mehrabanian
wiley   +1 more source

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS).
Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A. Kozel, Justin Weigand, Shaine A. Morris   +8 more
doaj   +1 more source

Comprehensive genomic characterization defines human glioblastoma genes and core pathways. [PDF]

, 2008
Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation.
Cancer Genome Atlas Research Network
core   +1 more source

The Effect of Interferon Type I Adjuvant Therapy on the Lifespan and Complications of Glioma Patients Undergoing Chemotherapy: A Systematic Review and Meta‐Analysis

Cancer Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background The malignant glioma, as the most common and aggressive primary brain and spinal cord neoplasm, has shown limited responsiveness to available treatments, including tumor dissection, radiation, and chemotherapy. Thus, interferon type I, as a supplemental therapy, is added to the main therapies to overcome neoplasm resistance and ...
Nima Goudarzi, Abolfazl Sam Daliri, Arshia Harati, Shabnam Soheil Nader, Kourosh Kabir   +4 more
wiley   +1 more source

Malignant pleural mesothelioma in a young patient with neurofibromatosis 2 and acquired BAP1 loss: A case report

Current Problems in Cancer: Case Reports
Introduction: Neurofibromatosis type 2 (NF2) is a rare genetic disorder resulting from germline loss of the NF2 tumor suppressor gene characterized by the development of multiple benign central nervous system tumors.
Jerry Kong, Jake Sharma, Joshua K. Sabari   +2 more
doaj   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 95-100, March 2026.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Non‐Functional Paraganglioma of the Urinary Bladder: A Rare Cause of Bladder Tumor

IJU Case Reports, Volume 9, Issue 2, March 2026.
ABSTRACT Introduction Paragangliomas of the urinary bladder (PUBs) are rare neuroendocrine tumors, representing less than 0.06% of all bladder neoplasms. While most are functional and associated with catecholamine excess, approximately 15% are non‐functional, often presenting asymptomatically and discovered incidentally.
Matt Wainstein, Vivek Aslot, Faith Dennie, Mark Wainstein, Thenappan Chandrasekar   +4 more
wiley   +1 more source

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L‐Amino Acid Decarboxylase Deficiency Using an MR‐Compatible Cannula: 48 Weeks of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production.
Daniel J. Curry, Phillip L. Pearl, Scellig S. D. Stone, Donald L. Gilbert, Sudhakar Vadivelu, Bruria Ben‐Zeev, Matthew Vestal, Muhammad Zafar, Chun‐Hwei Tai, Sheng‐Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin‐Hsiu Chien, Paul Wuh‐Liang Hwu   +22 more
wiley   +1 more source

HERVs, transposons and human diseases : part II [PDF]

, 2013
Part 1 and part 3 of the article can be found through this link : https://www.um.edu.mt/library/oar//handle/123456789/12961 https://www.um.edu.mt/library/oar//handle/123456789/13132Part 2 of the article.
Baldacchino, Sandra, Grech, Alfred
core  

LKB1–AMPK Signaling Pathway in Cardiovascular and Other Diseases

MedComm, Volume 7, Issue 3, March 2026.
The LKB1–AMPK pathway has a central regulatory role in various diseases. Dysfunction of this pathway can lead to pathological processes in cardiovascular diseases (atrial fibrillation, myocardial infarction, myocardial hypertrophy, atherosclerosis), metabolic diseases (diabetes and kidney disease), neurodegenerative diseases (Alzheimer's disease ...
Zhuo Chen, Qin Yang, Guo‐Wei He
wiley   +1 more source