Results 61 to 70 of about 42,983 (297)
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Hyper-IgD syndrome and hereditary periodic fever syndromes
Reumatismo, 2004 Hereditary periodic fever syndromes are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause.
R. Scolozzi, A. Boccafogli, L. Vicentini
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 +3 more
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
, 2018 Periodic fever syndromes (PFS) are characterised by recurrent fever and excessive systemic inflammation. These rare and hereditary syndromes include familial Mediterranean fever, tumour necrosis factor receptor-1 associated periodic syndrome, mevalonate ...
Mortensen, Sussi Bagge +3 more
core +1 more source
Periodic Fever Compatible with Familial Mediterranean Fever.
Internal Medicine, 1992 A 55-year-old male presented with a recurrent fever of over 38 degrees C, occurring at irregular intervals 1-6 times a month with chest, back or abdominal pain. After admission to our hospital, we found the following characteristics: 1) the febrile attacks were accompanied by obvious inflammatory findings and pleuritis or peritonitis; 2) the patient's ...
TAKAHASHI, Mayumi +8 more
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms
Современная ревматология, 2013 Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern.
Mikhail Mikhailovich Kostik +6 more
doaj +1 more source
The Netherlands journal of medicine, 1992 The present report concerns a 35-yr-old Caucasian male who had suffered from episodic fever of unknown origin over a period of 13 yr. Extensive investigation covering all the known causes of fever of unknown origin did not yield a diagnosis. Finally, a psychogenic cause was considered, and treatment with a psychotropic drug and relaxation therapy led ...
Timmerman, R.J. +3 more
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source