Results 61 to 70 of about 508,254 (320)

TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report

Frontiers in Medicine, 2023
TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease.
Shaofang Huang, Kangxiang Xu, Yuqi Xu, Lu Zhao, Xiaoju He   +4 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Indications and Technique: Bipolar Patellofemoral Osteochondral Allograft Transplantation, Tibial Tubercle Osteotomy, and Medial Patellofemoral Ligament Reconstruction

Video Journal of Sports Medicine
Background: Bipolar osteochondral allograft (OCA) transplantation is a durable option for patients with symptomatic chondral defects involving the patellofemoral joint.
José Vega MD, Zachary Oppenheim BS, Edouard Augustin BS, Adam Yanke MD, PhD   +3 more
doaj   +1 more source

Legal Nature of Consent to Coexistence under theTrademark Law: Focusing on the Revised Trademark Law Promulgated on October 31, 2023

Journal of Intellectual Property
The revised Trademark Law allows an applicant to obtain trademark registration even if the applied-for trademark is identical or similar to a prior registered trademark, provided that a coexistence agreement is submitted from the rightholder of the prior
Youngtaeg Nam, Jiseon Yoo
doaj   +1 more source

Quality of life in patients with glaucoma using the Glaucoma Quality of Life-15 Questionnaire

Journal of Clinical Ophthalmology and Research, 2023
Purpose: The purpose of this study is to measure the quality of life (QoL) in patients with glaucoma using the Glaucoma QoL-15 (GQL-15) questionnaire. Methods: A cross-sectional study with a prospective enrollment of glaucoma patients was conducted.
Mukesh Kumar, Shafia Parveen, Lokesh Chauhan   +2 more
doaj   +1 more source

Abnormal white matter tracts resembling pencil fibers involving prefrontal cortex (Brodmann area 47) in autism: a case report. [PDF]

, 2016
BackgroundAutism is not correlated with any neuropathological hallmark as the brain of autistic individuals lack defined lesions. However, previous investigations have reported cortical heterotopias and local distortion of the cytoarchitecture of the ...
Ariza, Jeanelle, Hashemi, Ezzat, Lechpammer, Mirna, Martínez-Cerdeño, Verónica, Noctor, Stephen C   +4 more
core   +1 more source

Investigating the Efficacy of Regenerative Therapy With Autogenous Platelet-Rich Plasma in Vertical Bone Defects

Cureus
Context and objective The main goal of periodontal therapy is to remove periodontopathogenic microorganisms and regenerate destructured periodontal tissues. Advances in biomaterials have improved the results of regenerative procedures.
Tsvetalina Gerova-Vatsova
semanticscholar   +1 more source

Osteochondral Autograft Transplant (Mosaicplasty) for Knee Articular Cartilage Defects.

JBJS Essential Surgical Techniques, 2019
Osteochondral autograft transplant (mosaicplasty) is a cartilage repair procedure for patients with knee articular cartilage lesions of a substantial size (>3 cm2). Patient selection is key to a successful result; patients with established osteoarthritis
E. Inderhaug, Eirik Solheim
semanticscholar   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Medicolegal Review: Perinatal Effexor Lawsuits and Legal Strategies Adverse to Prescribing Obstetric Providers

American Journal of Perinatology Reports, 2019
Objectives This study was aimed to familiarize obstetricians with the legal environment surrounding Effexor lawsuits and emphasize the importance of documenting informed consent in the medical records when prescribing a medication that is being targeted ...
Nathan Kirsch, Luis D. Pacheco, Amjad Hossain, John Y. Phelps III   +3 more
doaj   +1 more source