Results 211 to 220 of about 52,862 (296)

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Commentary: Predicting histologic grades for pancreatic neuroendocrine tumors by radiologic image-based artificial intelligence: a systematic review and meta-analysis. [PDF]

Front Oncol
Merola E, Michielan A, Gabbrielli A.
europepmc   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

No differences in knee anthropometric-related risk factors between unilateral and bilateral ACL reconstruction: A matched MRI-based cohort study. [PDF]

J Exp Orthop
D'Ambrosi R, Di Maria F, Sconfienza LM, Fusco S, Bausano MV, Sica M, Silletta F, Abermann E, Fink C.   +8 more
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Medical 3D Printing Using Material Jetting: Technology Overview, Medical Applications, and Challenges. [PDF]

Bioengineering (Basel)
Chokshi S, Gangatirkar R, Kandi A, DeLeonibus M, Kamel M, Chadalavada S, Gupta R, Munigala H, Tappa K, Kondor S, Burch MB, Ravi P.   +11 more
europepmc   +1 more source

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

Animal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani, Hao Li, Panpan Guo, Qiulin Zhang, Mahmoud M. Abouelfetouh, Mingxing Ding, Yi Ding   +6 more
wiley   +1 more source

Radiologic complete response after conversion therapy for hepatocellular carcinoma: is liver transplantation necessary? [PDF]

Hepatobiliary Surg Nutr
Gao CH, Cao LP, Cheng SQ, Wang L, Wang JZ, Yan ML, Zheng SS, Yang Z.   +7 more
europepmc   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran, Ramin Mazaheri‐Khameneh, Seyed Mohammad Hashemi‐Asl, Rahim Hobbenaghi   +3 more
wiley   +1 more source

Comment on "Clinical outcomes and histologic findings of patients with hepatocellular carcinoma with durable partial response or durable stable disease after receiving atezolizumab plus bevacizumab". [PDF]

ILIVER
Li B, Wang Q, Hu W, Li H, Yan P, Cao Y, Yu D.   +6 more
europepmc   +1 more source