Results 211 to 220 of about 10,911,887 (292)

Clinical Characteristics and Novel Manometric Features of Pseudoachalasia: Identification of Loss of Respiratory Variation in Lower Esophageal Sphincter Pressure

JGH Open, Volume 10, Issue 9, September 2026.
ABSTRACT Background Pseudoachalasia closely mimics idiopathic achalasia in both symptoms and high‐resolution manometry (HRM) findings, making accurate diagnosis difficult. This study aimed to clarify the clinical characteristics of pseudoachalasia encountered at our institution and identify novel manometric findings specific to this condition.
Eri Nishikawa, Shinwa Tanaka, Hirofumi Abe, Hiroshi Tanabe, Shinya Hoki, Hitomi Hori, Tatsuya Nakai, Chise Ueda, Satoshi Urakami, Tetsuya Yoshizaki, Takashi Toyonaga, Yuzo Kodama   +11 more
wiley   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

A Case of AL Amyloidosis With Hepatomegaly as the Main Clinical Manifestation. [PDF]

Clin Case Rep
Dong S, Lv R, Wang W, Gao G, Zhao M, Ma X.   +5 more
europepmc   +1 more source

Genome Editing for Glycogen Storage Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Gene therapy has been developed for several glycogen storage diseases and has advanced into clinical trials. However, the limitations of these gene therapies with regard to stability following treatment early in life have led to the development of genome editing.
Troy von Beck, Raymond Wang, Dwight Koeberl   +2 more
wiley   +1 more source

Systemic Amyloid Light-Chain (AL) Amyloidosis Revealed by Progressive Pan-Ungual Dystrophy: A Case Report. [PDF]

Cureus
Marhraoui M, Hamada S, Haidouri S, Meziane M, Laila B.   +4 more
europepmc   +1 more source

Heparan Sulfate Proteoglycans: Master Regulators of Cellular Signaling, Tissue Development, and Neural Function

Journal of Neuroscience Research, Volume 104, Issue 9, September 2026.
Ubiquitous cell‐associated, cytoplasmic, synaptic and extracellular matrix HS‐proteoglycans are multifunctional regulators of tissue form and function. HS‐proteoglycans have diverse functions as growth factor co‐receptors in cell proliferation, differentiation, tissue development, mechanical stabilization, synaptogenesis, synaptic plasticity, and ...
James Melrose
wiley   +1 more source

AL amyloidosis: a real-world experience with CAR T-cell therapy. [PDF]

Blood Adv
Tan MSY, Warsame R, Parrondo R, Muchtar E, Kourelis T, Buadi F, Gonsalves W, Cook J, Kapoor P, Hayman S, Dingli D, Binder M, Leung N, Roy V, Sher T, Wiedmeier-Nutor JE, Chhabra S, Fonseca R, Abdallah N, Rajkumar SV, Kumar SK, Gertz M, Lin Y, Dispenzieri A.   +23 more
europepmc   +1 more source

A Refractory Leg Skin Ulcer Associated With Multiple Myeloma Successfully Treated With Plasma Exchange, Lenalidomide, and Dexamethasone

JEADV Clinical Practice, Volume 5, Issue 3, Page 946-950, September 2026.
ABSTRACT Multiple myeloma (MM) is a malignant plasma cell disorder that primarily presents with CRAB symptoms (calcium elevation, renal failure, anemia, and bone abnormalities). In rare cases, MM manifests with systemic complications like skin ulcers, which present management challenges. Here, we report a 78‐year‐old Japanese man with MM and refractory
Naoko Hattori, Yutaka Kuwatsuka, Tomoka Waseda, Daisuke Ehara, Koji Ando, Hiroyuki Murota   +5 more
wiley   +1 more source

Case Report: When Routine Gynecologic Procedures Unmask a Systemic Bleeding Disorder: Refractory Uterine Hemorrhage Leading to the Diagnosis of AL Amyloidosis. [PDF]

J Obstet Gynaecol Res
Genç Nİ, Gönenli MG, Sadri S, Çakmak T, Doğan İÖ, Akay OM.   +5 more
europepmc   +1 more source

Smart Design: Integrating Artificial Intelligence and Gene Editing for Advanced mRNA Therapeutics

MedComm – Biomaterials and Applications, Volume 5, Issue 3, September 2026.
The challenges of mRNA therapy and the application of artificial intelligence and gene editing in the field of mRNA drugs. ABSTRACT Artificial intelligence (AI) and gene editing are increasingly being applied to the design and evaluation of mRNA therapeutics.
Haixing Shi, Shengbin Liu, Danni Dai, Shanhui Jiang, Tingchen Tian, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Fang Liu, Xue Tang, Xin Jiang, Xiangrong Song   +11 more
wiley   +1 more source