Results 201 to 210 of about 1,351,947 (296)

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Tumor or Inflammation? How Multi-Modality Image Fusion and Shear Wave Elastography Can Help Solve the Diagnostic Dilemma. [PDF]

Diagnostics (Basel)
Detorakis ET, Bontzos G, Drakonaki EE.
europepmc   +1 more source

HPV42 – a human papillomavirus classified as a low‐risk type with oncogenic potential

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Human papillomavirus (HPV) type 42 is a rare HPV type currently classified as “low‐risk” and belongs to the alpha genus. It has primarily been detected in benign vulvar papillomas and is predominantly associated with benign lesions such as anogenital warts.
Sven Niklas Burmann, Ulrike Wieland, Steffi Silling, Frank Oellig, David Chromy, Julia Hyun, Thilo Gambichler, Alexander Kreuter   +7 more
wiley   +1 more source

Intratesticular varicocele: sonographic diagnosis and clinical impact. [PDF]

J Ultrason
Youssef AT.
europepmc   +1 more source

Expert Consensus on the Diagnosis and Monitoring of Paroxysmal Nocturnal Hemoglobinuria (PNH): An Algorithmic Approach in an Era of New Treatments

European Journal of Haematology, EarlyView.
ABSTRACT Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder caused by a defect of glycosylphosphatidyl‐anchored proteins, leading to an uncontrolled complement‐mediated hemolysis. The advent of complement inhibitors in clinical practice radically changed patients' outcomes and survival.
Bruno Fattizzo, Monia Marchetti, Elisa Cannizzo, Arianna Gatti, Massimo Geuna, Anna Paola Iori, Maddalena Raia, Simona Sica, Francesco Buccisano   +8 more
wiley   +1 more source

Is Varicocele Truly Unilateral? Contralateral Involvement and Bilateral Testicular Effects in Male Infertility: A Narrative Review. [PDF]

J Pers Med
Kaltsas A, Koumenis A, Symeonidis EN, Dimitriadis F, Sofikitis N.   +4 more
europepmc   +1 more source

Charting the course of Sjögren's disease: A historical analysis of scientific progress

European Journal of Oral Sciences, EarlyView.
Abstract Sjögren's disease (SjD) bears the name of the Swedish ophthalmologist Henrik Sjögren. His 1933 doctoral thesis on keratoconjunctivitis sicca ignited interest, yet much remains under debate. SjD is an autoimmune disorder that primarily affects the exocrine glands, particularly the salivary and lacrimal glands, leading to a dryness of the eyes ...
Diego Ustárroz Cantali, Fabiola Reis de Oliveira, Denise Cantarelli Machado, Moisés Evandro Bauer   +3 more
wiley   +1 more source

Pediatric emergency department point-of-care ultrasound diagnosis of unprovoked iliofemoral deep vein thrombosis in an adolescent: A case report. [PDF]

Radiol Case Rep
Elosiuba E, McCourt E, Toko R, Udo SI, Vella A, Chukwuma Chukwuma L, Yarfoh KB, Nwatuzor C.   +7 more
europepmc   +1 more source

Severe neck stiffness in a 20‐year‐old gelding with cytological findings suggestive of cervical vertebral neoplasm

Equine Veterinary Education, EarlyView.
Summary A 20‐year‐old warmblood gelding was referred for the evaluation of severe cervical stiffness and pain. Radiographic examination revealed marked arthropathy of the C3–C4 articular processes, with severe remodelling and narrowing of the C3–C4 intervertebral space.
F. Bonaspetti, E. Porzio, M. Sforna, A. Mascioni, F. Beccati   +4 more
wiley   +1 more source

A Paradoxical Case of Bleeding and Clots: The Hidden Thrombotic Threat in Immune Thrombocytopenic Purpura. [PDF]

Clin Case Rep
Sarker NK, Das S, Alam MK, Sarker SD, Rahman MH.   +4 more
europepmc   +1 more source