Results 41 to 50 of about 7,121 (223)

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, Yosuke Kono, Norio Hasuda, Mai Iwaya, Takaya Nakane, Tomomi Yamaguchi, Tomoki Kosho, Yoshiko Nakayama   +9 more
wiley   +1 more source

Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study

Global Pediatric Health
Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the MEVF gene cause it. AA Amyloidosis is the most severe complication of FMF leading to chronic renal failure. We describe
Souhaila El Gazzane MD, Amine Ichane MD, Chaimae Nahi MD, Khadija Mouaddine MD, Bouchra Chkirate MD, PhD, Aziza Guennoun MD, Najat Oulahiane MD, Hassan Ait Ouamar MD, PhD, Lamiaa Rouas MD, PhD   +8 more
doaj   +1 more source

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 more
wiley   +1 more source

Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3 [PDF]

, 1998
We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial Mediterranean fever (FMF) locus.
Adams, Aksentijevich, Andrea Cercek, Anil Vedula, Antequera, Buckland, Calabro, Chen, Dahl, Daniel L. Kastner, Darrell O. Ricke, David F. Callen, David Krizman, Deborah Gumucio, Elizabeth Mansfield, Francis S. Collins, Geryl Wood, Huebner, Ivona Aksentijevich, Jingmei Liu, Kulp, Lancet, Melanie Hamon, Michael Centola, Nathan Fischel-Ghodsian, Neil Richards, Neta Shafran, Norman A. Doggett, Nurit Zaks, P. Paul Liu, Pras, Puder, Raman Sood, Robert I. Richards, Robert K. Moyzis, Sinoula Apostolou, Tanaz Kahan, Trevor Blake, Xiang Chen, Xiaoguang Chen, Yasuda, Yokoyama, Zuoming Deng   +42 more
core   +1 more source

Nonalcoholic fatty liver disease and familial Mediterranean fever: Are they related? [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2012
Introduction. Familial Mediterranean fever (FMF) is a periodic febrile disease characterized by acute recurrent episodes of serositis. Liver disease is not considered a part of the spectrum of clinical manifestations of FMF. Objective.
Sarkis Cihat, Caglar Erkan, Ugurlu Serdal, Cetinkaya Emel, Tekin Nilüfer, Arslan Mubeccel, Özdemir Sebati, Tuncer Murat   +7 more
doaj   +1 more source

Kidney transplantation in a patient with familial mediterranean fever complicated by secondary amyloidosis (clinical report)

Вестник трансплантологии и искусственных органов, 2023
The paper presents a clinical case of successful kidney transplantation (KTx) in a patient with end-stage chronic kidney disease (ESKD) resulting from familial Mediterranean fever (FMF).
K. G. Tayler, Sh. R. Galeev
doaj   +1 more source

Development and Validation of a Rapid and Simple UHPLC–MS/MS Method for the Determination of Colchicine in Human Plasma

Biomedical Chromatography, Volume 39, Issue 11, November 2025.
ABSTRACT Colchicine is a naturally occurring alkaloid primarily derived from plants of the Colchicum genus, which is used to treat gout and serve as a frontline therapy for various inflammatory conditions, including familial Mediterranean fever. Although it is not recommended for routine therapeutic drug monitoring, there are situations where it may be
Nela Žideková, Kristián Pršo, Marek Pršo, Miloš Jeseňák, Oldřich Farsa, Martin Kertys   +5 more
wiley   +1 more source

Familial Mediterranean Fever and Transverse Myelitis: A Causal Relation?

Neurology and Therapy, 2023
Familial Mediterranean fever (FMF) is a rare autoinflammatory disorder characterized mainly by recurrent self-limited episodes of fever and polyserositis.
Ali Motahharynia, Ghazaal Alavi Tabatabaei, Reza Sarrafi, Saba Naghavi, Iman Adibi   +4 more
doaj   +1 more source

Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation [PDF]

, 2016
BACKGROUND: The Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in
Andrej Veljković, Dragana Lazarević, Dušica Pavlović, Gordana Kocić, Jelena Milenković, Jelena Vojinović, Maja Milojković, Maruša Debeljak, Nataša Toplak, Tadej Avčin, Tatjana Jevtović-Stoimenov, Vladmila Bojanić   +11 more
core   +1 more source

Targeted Anti‐Inflammatory Therapy in Cardiovascular Events: Challenges and Opportunities

The Journal of Clinical Hypertension, Volume 27, Issue 11, November 2025.
ABSTRACT Cardiovascular diseases (CVDs) remain the leading cause of morbidity and mortality globally. Emerging evidence suggests that inflammation plays a pivotal role in the pathogenesis of atherosclerosis and subsequent cardiovascular events. Traditional treatments primarily focus on lipid‐lowering and antithrombotic strategies; however, these ...
Li Feng, Ling Wang, Xiaorong Yan, Tianyi Ma   +3 more
wiley   +1 more source