Results 31 to 40 of about 50,334 (225)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Systematic review of ocular surface treatments in the setting of thyroid eye disease

Frontiers in Ophthalmology
IntroductionApproximately 85% of patients with thyroid eye disease experience ocular surface symptoms. Although corneal exposure plays a role in inducing inflammatory changes to the ocular surface, multiple studies reveal more complexity to the abnormal ...
Anthony Stephen Wong, James G. Chelnis, James G. Chelnis   +2 more
doaj   +1 more source

Aggravated Orbitopathy Following Remnant Ablation in a Patient with Multiple Cancers

Endocrinology Research and Practice, 2017
The rate of thyroid cancer in the patients with Graves’ disease is controversial. The rare incidents of multiple primary thyroid cancers in the same patient have been reported.
Umut MOUSA, Hasan SAV, Osman KÖSEOĞULLARI, Şebnem AYDIN, Hanife ÖZKAYALAR   +4 more
doaj   +1 more source

Severity of thyroid eye disease and type-2 diabetes mellitus: Is there a correlation?

Indian Journal of Ophthalmology, 2020
Purpose: To study the correlation between thyroid eye disease (TED) with type-2 diabetes mellitus. Methods: A cross-sectional cohort study was conducted from Jan 2018 to Dec 2018, in patients presenting with thyroid eye disease to orbit and oculoplasty ...
Lakshmi B Ramamurthy, Viji Rangarajan, Neha Srirao, Bindu Malini, Renu Bansal, Kavitha Yuvarajan   +5 more
doaj   +1 more source

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Teprotumumab in advanced reactivated thyroid eye disease

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report the case of a patient with reactivated, refractory thyroid eye disease (TED) treated with teprotumumab. Observations: A 51-year-old female with a 16-year history of thyroid eye disease previously treated with orbital decompression and ...
Olivia T. Cheng, Dianne M. Schlachter
doaj   +1 more source

Exposure‐adjusted safety and efficacy of GLP‐I and GLP‐1/GIP receptor agonists compared with non‐GLP‐I for weight management and type 2 diabetes: Based on FDA medical and statistical reports of 34 280 safety and 36 312 efficacy subjects

British Journal of Clinical Pharmacology, EarlyView.
Aims This work aimed to contextualize glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) and glucose‐dependent insulinotropic polypeptide (GIP) receptor agonists safety and efficacy regarding weight management (WM); we analysed Food and Drug Administration (FDA) Medical Reviews to analyse 14 medications using patient‐exposure year normalization and ...
Aishwarya Prasad, Anshu Arora, Arun Arora, Jeena Vaid, Arif Khan   +4 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source