Results 61 to 70 of about 1,279,374 (224)

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

Obesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee, Caroline M. Apovian, Nawfal Istfan   +2 more
wiley   +1 more source

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Clinical Case Reports, 2017
Key Clinical Message Correctional surgery was performed on a 3‐year‐old intact male shih tzu presenting with Ehlers–Danlos syndrome, ocular disease, and skin fold dermatitis.
Søren N. Rasch
doaj   +1 more source

MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection

Annals of Human Genetics, EarlyView.
ABSTRACT Aims Thoracic aortic aneurysms and dissections are major causes of sudden cardiovascular death. We aimed to evaluate the clinical significance of the MYLK c.4079G>A, p.(Gly1360Asp) variant in Finnish families with heritable thoracic aortic disease (HTAD) and to assess evidence for a potential founder effect.
Minja Virtanen, Sini Keskinen, Rikhard Björn, Minna Paavola, Pia Pohjola, Marja Hietala, Maria K. Haanpää, Markus Malmberg, Elisa Rahikkala   +8 more
wiley   +1 more source

Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers–Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings

Biomedicines
Background/Objectives: Hypermobile Ehlers–Danlos Syndrome (hEDS) is a complex connective tissue disorder with multi-systemic manifestations that significantly impact quality of life.
Arash Shirvani, Purusha Shirvani, Ugochukwu Jonah, Brian E. Moore, Michael F. Holick   +4 more
doaj   +1 more source

Epilepsy in Ehlers‐Danlos Syndrome [PDF]

Epilepsia, 1999
Summary: Purpose: Ehlers‐Danlos syndrome (EDS) is a complex hereditary connective tissue disorder infrequently reported in association with epilepsy. Seven patients with ages ranging from 28 to 70 years with EDS and epilepsy are described. Methods: Case review of clinical and diagnostic data.
openaire   +2 more sources

The association between collagenopathies and the risk of spontaneous preterm birth: A systematic review with selective meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This review quantifies the association between collagenopathies and spontaneous preterm birth, assessing their role in antenatal risk assessment. Marfan syndrome is significantly associated with an increased risk of spontaneous preterm birth (OR 2.71, 95% CI 2.23–3.30; p < 0.001; I2 = 41%) while evidence for Ehlers–Danlos syndrome is heterogeneous ...
Kensie Treacy, Brenda F. Narice, Denya Williams‐Goss, Dilly O. C. Anumba   +3 more
wiley   +1 more source

The prevalence of hypermobile Ehlers–Danlos syndrome at a gender-affirming primary care clinic

SAGE Open Medicine
Objective: This study utilized a sample of trangender, nonbinary, and gender-diverse (TGD) patients to build on emerging literature that suggests that hypermobile Ehlers–Danlos syndrome may be overrepresented in TGD populations.
Theo Stein, Shannon Collins, Joshua St. Louis   +2 more
doaj   +1 more source

The Ehlers–Danlos syndromes, rare types [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability.
Brady, Angela F, Demirdas, Serwet, Fournel-Gigleux, Sylvie, Ghali, Neeti, Giunta, Cecilia, Kapferer-Seebacher, Ines, Kosho, Tomoki, Mendoza-Londono, Roberto, Michael Pope, F., Rohrbach, Marianne, van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Zschocke, Johannes, Malfait, Fransiska   +15 more
openaire   +4 more sources

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

Surgical treatment of aortic aneurysms in a patient with Ehlers-Danlos syndrome [PDF]

, 2010
Ehlers-Danlos syndrome IS a rare inherited disorder of the connective tissue that has been divided Into 10 types according to the clinical course and Inheritance In type IV Ehlers-Danlos syndrome extreme fragility of the arteries Is associated with ...
Anguseva, Tanja, Mitrev, Zan, Hristov, Nikola, Belostotsky, Vladimir   +3 more
core   +2 more sources