Results 41 to 50 of about 64,440 (255)

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

Antiphospholipid Antibody Syndrome Associated with Graves' Disease Presenting As Inferior Vena Cava Thrombosis with Bilateral Lower Limb DVT

, 2014
We report a case of a 60-year-old lady who presented with bilateral lower limb swelling and a thyroid swelling with clinical features consistent with thyrotoxicosis. Investigations revealed the presence of a thrombus in bilateral external, internal iliac
Ankur Jain
core   +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

Can Digit Ratio (2D:4D) Be Indicative of Predispositions to Autoimmune Thyroid Diseases in Women - Hashimoto Thyroiditis and Graves’ Disease?

Frontiers in Endocrinology, 2022
Hashimoto thyroiditis and Graves’ disease are autoimmune thyroid diseases which occur much more frequently in women than in men. Estrogen receptors are found in the thyroid gland and can modulate the gland’s function. Digit ratio (2D:4D) is thought to be
Barbara Święchowicz, Anna Kasielska-Trojan, John T. Manning, Bogusław Antoszewski   +3 more
doaj   +1 more source

Ocorrência de carcinoma de tireóide em pacientes com doença de graves submetidos à tireoidectomia para controle do hipertireoidismo [PDF]

, 2001
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Godinho, Michele Santa Maria
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Selenium and Graves’ Disease

Acta Medica Iranica
Selenium, a trace element present in specific selenoproteins, is essential for thyroid hormone metabolism. Selenium is also an antioxidant with immunosuppressive properties and may help in managing thyroid autoimmune diseases, including Graves’ (GD ...
Vahab Fatourechi, Hassan M. Heshmati
doaj   +1 more source

A Case of Graves’ Disease Accompanied with Acute Hepatitis A Virus Infection

The Korean Journal of Gastroenterology, 2018
Concurrent presentation of acute hepatitis A virus (HAV) infection and Graves’ disease has not been reported in literature worldwide. Although there is no well-established mechanism that explains the induction of Graves’ disease by HAV to date, our case ...
Seong Eun Hong, Jin Woo Choo, Soo Kyung Lim, Seong Jin Lee, Ji Won Park, Sung Eun Kim, Jong Hyeok Kim, Choong Kee Park   +7 more
doaj   +1 more source

Familial risks between Graves disease and Hashimoto thyroiditis and other autoimmune diseases in the population of Sweden

Journal of Translational Autoimmunity, 2020
Genetic and family studies have indicated that Graves disease and Hashimoto thyroiditis have a heritable component which appears to be shared to some extend also with some other autoimmune diseases (AIDs).
Hauke Thomsen, Xinjun Li, Kristina Sundquist, Jan Sundquist, Asta Försti, Kari Hemminki   +5 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source