Results 161 to 170 of about 1,137,360 (290)

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

Journal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang   +7 more
wiley   +1 more source

Summary of the application value of ultrasound imaging features in the clinical differential diagnosis of intramuscular capillary-type hemangioma and fibro-adipose vascular anomaly. [PDF]

Front Oncol, 2023
Hu WJ, Li HT, Fan ZN, Gong YB, Guo XN, Dong CX, Fan PH, Yang X, Wu G.   +8 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Compression of the Left Brachiocephalic Vein by a Type II Right Aortic Arch: A Rare Vascular Anomaly With Unique Clinical Presentation. [PDF]

Cureus
Hamade A, Awti M, Haidar K, Tarhini H, Bechara TE.   +4 more
europepmc   +1 more source

Vascular anomaly diagnosis by central venous catheter misplacement: a case report. [PDF]

J Med Case Rep, 2022
de Smalen PP, Stoutjesdijk MJ.
europepmc   +1 more source

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation. [PDF]

Case Rep Genet, 2022
Driskill JH, Hwang H, Callan AK, Oliver D.   +3 more
europepmc   +1 more source

Trans‐Cervical Ultrasound Imaging of the Adult Palatine Tonsils

Journal of Medical Radiation Sciences, EarlyView.
Ultrasound imaging of the adult palatine tonsils using a trans‐cervical approach can be used to assess the tonsillar region for intratonsillar and peritonsillar abscesses. An understanding of the sonographic anatomy, technique and tonsillar pathology is required to perform and interpret imaging and inform patient management.
Michelle Fenech, Tristan Reddan
wiley   +1 more source

Anomalous origin of right pulmonary artery from ascending aorta (AORPA): An uncommon aortopulmonary vascular anomaly. [PDF]

Lung India
Kaur G, Bhatia A, Menon P, Saxena AK, Sodhi KS.   +4 more
europepmc   +1 more source

Two Cases of Positional Variation of the Cecum and Appendix With a Vascular Anomaly: A Diagnostic Dilemma. [PDF]

Cureus, 2022
Afroze M KH, Muralidharan S, Shanmugam A, Khan AW, Bhowmik S.   +4 more
europepmc   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source