Results 151 to 160 of about 581,034 (380)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The role of ultrasonography in the diagnosis and management of chronic pancreatitis: Opportunities, limitations and prospects for development – a literature review

Journal of Education, Health and Sport
Introduction and purpose Chronic pancreatitis is a progressive disorder of the pancreas that may be caused by numerous factors. It leads to impaired nutrient absorption, diabetes development, chronic pain and an increased risk of pancreatic cancer ...
Jakub Pokrzepa, Karolina Baran, Katarzyna Bartnik, Gabriela Blecharz, Marlena Jankowska, Natalia Jańczyk, Karolina Mędrysa, Michał Presak, Julia Szwech, Jakub Adamski   +9 more
doaj   +1 more source

Endoscopic Treatment of Gallstone-Impacted Choledochocele Precisely Diagnosed by Endoscopic Ultrasonography [PDF]

, 1996
Satoshi Tanno, H Maguchi, T. Obara, Takehiro Fujii, S. B. Santos, Akemi Itoh, Noriyuki Nishino, Satoshi Arisato, Hitoshi Ura, Yutaka Kohgo   +9 more
openalex   +1 more source

Clinical significance of endoscopic ultrasonography in diagnosing invasion depth of early gastric cancer prior to endoscopic submucosal dissection

Gastric Cancer, 2020
Kazutaka Kuroki, S. Oka, Shinji Tanaka, N. Yorita, Kosaku Hata, Takahiro Kotachi, T. Boda, K. Arihiro, K. Chayama   +8 more
semanticscholar   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Research advances in dysphagia animal models

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai, Keling Cheng, Nannan Zhang, Yunfang Chen, Jun Ni, Zhiyong Wang   +5 more
wiley   +1 more source

Oral vancomycin solution is superior to capsule in inducing clinical biomarker and endoscopic remission in children with atypical ulcerative colitis

British Journal of Clinical Pharmacology, EarlyView.
Aims Atypical colitis (presenting reverse gradient colitis, backwash ileitis or rectal sparing) is associated with primary sclerosing cholangitis–ulcerative colitis (PSC). Oral vancomycin has been used to manage paediatric atypical colitis with/without confirmed PSC. Different preparations had shown different efficacy.
Laura Räisänen, Fariha Balouch, Claire Reilly, Christopher Burgess, Peter Lewindon   +4 more
wiley   +1 more source

Submucosal esophageal abscess evolved from a peritonsillar abscess diagnosed using esophagogastroduodenoscopy and endoscopic ultrasonography: A case report

Acta Oto-Laryngologica Case Reports
An 83-year-old woman with suspected cervical abscess and laryngeal edema was transferred to our hospital for further examination and treatment. She was diagnosed with a left peritonsillar abscess and inflammatory spread to the esophagus and scheduled ...
Kazuhiro Yoshinaga, Tetsuo Watanabe, Kota Hiraoka, Takashi Hirano, Masashi Suzuki   +4 more
doaj   +1 more source

Observation of lymph nodes and great vessels in the mediastinum by endoscopic ultrasonography.

, 1987
Hideo Kobayash, Takashi Danbara, Yasuo Sugama, Tatsuya Saito, Satoshi Kitamura, Siro KIRA   +5 more
openalex   +2 more sources

Oviductal and uterine leiomyomata in mares [PDF]

, 2013
This paper describes a case of a sessile uterine leiomyoma in a 17-year-old chronic infertile Selle Francais mare. The mass was removed by transendoscopic electrocoagulation.
Chiers, Koen, de Vries, C, Govaere, Jan, Hoogewijs, Maarten, Leemans, Bart, Nelis, Hilde   +5 more
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