Results 31 to 40 of about 4,057 (128)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Course of COVID-19 in patients carrying different MEFV mutations of familial Mediterranean fever

Medicine Science
Familial Mediterranean Fever (FMF) is a genetic auto-inflammatory disease. Mutations in the Mediterranean fever (MEFV) gene cause inappropriate immune system triggering, leading to inflammatory episodes in the peritoneum, pleura, and joints.
Bilgehan Demir, Dogu Karahan
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Revista Brasileira de Reumatologia
Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF).
Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek   +7 more
doaj   +1 more source

Unusual presentation of familial Mediterranean fever with co‐existing polyarteritis nodosa and acute post‐streptococcal glomerulonephritis

Clinical Case Reports, 2022
Acute post‐streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation.
Yeşim Özdemir Atikel, Betül Emine Derinkuyu, Sevcan A. Bakkaloğlu   +2 more
doaj   +1 more source

The Role of NLRP1, AIM2 and MEFV Inflammasomes in the High‐Intensity Interval Training of Individuals With Obesity

Immunology, Volume 178, Issue 1, Page 109-117, May 2026.
This study shows that 8 weeks of high‐intensity interval training (HIIT) modulate inflammasome‐related gene expression in individuals with obesity. HIIT increased AIM2, MEFV, CARD16 and CARD18 expression, with CARD16 upregulation supporting reduced inflammation through inhibition of caspase‐1 activation and lower IL‐1β levels.
Ana Luíza Pereira Assunção Silveira, Daniela Alves de Abreu, Amanda de Lima Santos Musto, Luiz Henrique da Silva Nali, Jônatas Bussador do Amaral, André Luis Lacerda Bachi, Marina Tiemi Shio, Paula Rezende‐Teixeira, Carolina Nunes França   +8 more
wiley   +1 more source

Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus

Frontiers in Immunology
BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immune tolerance, leading to systemic inflammation and organ damage. The Mediterranean fever (MEFV) gene, primarily linked to familial Mediterranean fever (FMF)
Yushiro Endo, Tomohiro Koga, Lamiaa Mohamed, Yoshika Tsuji, Masataka Umeda, Hiroko Hayashi, Tatsuya Kishino, Atsushi Kawakami   +7 more
doaj   +1 more source

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

M694V gene polymorphism may not contribute to the pathogenesis of reactive arthritis in the North Indian population

Indian Journal of Rheumatology, 2023
Introduction: Reactive arthritis (ReA) is a postinfectious, nonseptic arthritis that is characterized by an acute lower limb predominant oligoarthritis.
Anamika Kumari Anuja, Koshy Nitin Thomas, Mantabya Kumar Singh, Ashish Jacob Mathew, Vikas Agarwal, Latika Gupta   +5 more
doaj   +1 more source

Exploring Diagnostic Challenges: A Case Report Commentary on “Solving a Diagnostic Dilemma in a Patient With Periodic Fever—When the Pieces of the Puzzle Finally Fit”

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This case highlights the diagnostic challenge of distinguishing periodic fever syndromes with prominent neurological features from interferonopathies. While the absence of specific features on MRI/MRA and SAVI reduces the likelihood of certain subtypes, genetic evaluation involving interferon pathway genes remains important.
Fatih Kelesoglu, Adem Polat
wiley   +1 more source