Results 101 to 110 of about 35,458 (213)

Orphan disease: features of difficult to diagnose and genetically verified muscular dystrophy based on DNA sequencing results (clinical case)

Acta Biomedica Scientifica
Currently, orphan diseases are rarely diagnosed due to low patient awareness, heterogeneity of symptoms, low publication activity of specialists who may encounter orphan pathology, and limited availability of molecular genetic technologies for verifying ...
Yu. I. Kotsenko
doaj   +1 more source

Paratesticular Embryonal Rhabdomyosarcoma Masquerading as Epididymitis: A Diagnostic Challenge in Adolescents

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Paratesticular rhabdomyosarcoma is a rare malignancy in children and adolescents that frequently presents diagnostic challenges when mimicking benign inflammatory conditions. We report the case of a 14‐year‐old previously healthy male who presented with acute right scrotal pain and swelling initially diagnosed as epididymo‐orchitis.
Saif Khaled Abdalhadi Azzam, Lina Barhoum Barhoum, Ammir Abuzahra, Alaa Alazzeh, Khader Hassouneh, Nour Aldin K. Fakhory, Mohd Othman Lafi, M. I. Jawabreh Issa, Ibrahim Alzatari, Hamza Zughaier   +9 more
wiley   +1 more source

Pulmonary Artery Intimal Sarcoma Successfully Treated With Surgery and Adjuvant Chemotherapy: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
Chest contrast‐enhanced computed tomography. A slightly enhanced solid intraluminal mass is observed in the left (green arrow) and right (yellow arrow) main pulmonary arteries. ABSTRACT We report a case of pulmonary artery intimal sarcoma successfully treated with surgical resection followed by weekly paclitaxel.
Fumitaka Endo, Takeshi Iwaya, Naoki Yanagawa, Junichi Koizumi, Hajime Kin, Takuto Sasaki, Hiroaki Itamochi   +6 more
wiley   +1 more source

Primary Cervical Angiosarcoma Presenting With Transfusion‐Dependent Bleeding in Early Pregnancy: Diagnostic and Management Challenges

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Persistent vaginal bleeding during pregnancy should not be attributed solely to obstetric causes. Rare cervical malignancies, including angiosarcoma, may present with life‐threatening anemia, and MRI with early biopsy is essential to avoid diagnostic delay.
Ammir Abuzahra, Ruba Atawneh, Siwar Abu Sakout, Raya Abu Ayyash, Jana Dwaik   +4 more
wiley   +1 more source

Chondroid Soft Tissue Tumors With FOS::PABPN1 Fusion: A New Entity? About Two Cases

Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.
ABSTRACT Soft tissue tumors with chondroid matrix represent a heterogeneous group with persistent diagnostic challenges. Advances in molecular diagnostics have identified recurrent gene fusions in several chondroid neoplasms, predominantly involving FN1. Here, we report two cases of chondroid tumors harboring a novel FOS::PABPN1 fusion.
Jinane Kharmoum, Alexendra Meurgey, Daniel pissaloux, Sanae Chaib, Nicolas Macagno, Mariame Chraibi, Franck Tirode, Marie Karanian   +7 more
wiley   +1 more source

Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation

Türk Biyokimya Dergisi
The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features.
Düz Nilüfer, Ünsal Şeyda, Eerdem-Özdamar Sevim, Dinçer Pervin   +3 more
doaj   +1 more source

Deceptive Thyroid Pathologies: Anaplastic Thyroid Carcinoma Mimics and Clinical Implications

Head &Neck, Volume 48, Issue 8, Page 2180-2189, August 2026.
ABSTRACT Background Beyond follicular‐derived thyroid carcinomas, lymphomas, and metastatic disease, there are rare pathologies of the thyroid gland that represent a challenge. We report patients with unusual malignancies that mimic similar aggressive cancers. Methods Retrospective case series.
David Z. Allen, S. Mohsen Hosseini, Mark Zafereo, Miriam Lango, Elizabeth Gardner Grubbs, Priyanka Iyer, Shreyaskumar R. Patel, Vinod Ravi, Naifa Lamki Busaidy, Rui Jennifer Wang, Michelle D. Williams, Maria E. Cabanillas, Anastasios Maniakas   +12 more
wiley   +1 more source

Intravascular Pulmonary Artery Tumour Mimicking Nodal Recurrence and Inadvertently Sampled by EBUS‐TBNA: A Case Report

Respirology Case Reports, Volume 14, Issue 8, August 2026.
An intravascular pulmonary artery tumour mimicked nodal recurrence during post‐resection surveillance and was inadvertently sampled by EBUS‐TBNA. Synchronous lesion movement and increased bleeding were retrospective warning signs of pulmonary artery puncture, while sarcomatoid transformation and primary intimal sarcoma remained unresolved competing ...
Shoichiro Harada, Yasuto Ueda, Shinsuke Oda, Shino Arita, Yuri Shibata, Takashi Sumikawa, Yasuyuki Hasegawa, Mizuho Matsushita, Hiroki Chikumi, Akira Yamasaki   +9 more
wiley   +1 more source

The ELAVL1‐PLAUR‐suPAR Axis Exacerbates Diabetic Nephropathy by Promoting Podocyte Injury and Inflammation

Journal of Diabetes, Volume 18, Issue 8, August 2026.
This study identifies a novel pathogenic pathway in DN wherein hyperglycemia‐induced ELAVL1 upregulates PLAUR expression and promotes suPAR release from podocytes, leading to renal inflammation and injury. ABSTRACT Background Diabetic nephropathy (DN) is a leading cause of end‐stage renal disease.
DanDan Xu, Liang Xu, LinLin Li
wiley   +1 more source

Resistance‐exercise‐induced stress intervenes in TGF‐β signaling by cooperatively downregulating nuclear αB‐crystallin and SMAD4 in human skeletal muscle fibers

The FEBS Journal, Volume 293, Issue 15, Page 4624-4644, August 2026.
Alpha‐crystallin B chain (CRYAB) has been reported to stabilize mothers against decapentaplegic homolog 4 (SMAD4) in transforming growth factor‐β (TGF‐β) signaling, enabling target gene transcription. We show nuclear CRYAB–SMAD4 interaction for the first time in human skeletal muscle fibers and its regulation by exercise.
Kirill Schaaf, Cassandra Duda, Tihomir Kostov, Patrick Diel, Käthe Bersiner, Wilhelm Bloch, Sebastian Gehlert, Daniel Jacko   +7 more
wiley   +1 more source