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glutamic acid decarboxylase/cansancio
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11 resultados
Presynaptic neuromuscular transmission defect in the stiff person syndrome.
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BACKGROUND
The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness.
METHODS
We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration
An eight-year-old girl with autoimmune polyglandular syndrome type3A that developed during the course of primary Epstein-Barr virus (EBV) infection: clinical implication of EBV in autoimmune thyroid disease.
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An eight-year-old girl was admitted for prolonged fever and general fatigue. Bilateral reddened and swollen tonsils covered with white fur and increased numbers of atypical lymphocytes in blood led to a diagnosis of infectious mononucleosis (IM) due to primary Epstein-Barr virus (EBV) infection,
A case of type 1 diabetes onset and recurrence of Graves' disease during pegylated interferon-α plus ribavirin treatment for chronic hepatitis C.
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We report a case of type 1 diabetes onset and recurrence of Graves' disease during pegylated interferon (PEG-IFN)-alpha plus ribavirin treatment for chronic hepatitis C. The patient was a 55-year-old woman diagnosed with chronic hepatitis at age 46 years. She was treated for Graves' disease at 50
GASTRIC CARCINOID TYPE 1 IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME: ADDITIONAL ENDOCRINOLOGICAL EVALUATION REQUIRED.
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Autoimmune polyglandular syndrome by definition consists of two or more endocrinological insufficiencies or two organ specific autoimmune diseases. There are no stringent criteria for endocrinological evaluation of patients with one endocrine insufficiency. However, detailed endocrinological
[Gamma-aminobutyric acid--metabolism and its disorders].
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Gamma-aminobutyric acid is a major inhibitory neurotransmitter in the central nervous system. GABA metabolism is dependent on the activity of three enzymes: glutamic acid decarboxylase, GABA-transaminase and succinic semialdehyde dehydrogenase. Decreased activity of these enzymes may cause many
Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular periphery.
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OBJECTIVE
We report a case of a 58-year-old man suffering from stiff-person syndrome and recurrent peripheral vertigo.
METHODS
A case report and a review of the recent literature on stiff-person syndrome are presented.
RESULTS
The patient presented with recurrent episodes of vertigo with a pure
Concurrent variant type 3 autoimmune polyglandular syndrome and pulmonary arterial hypertension in a Japanese woman.
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We describe a very rare case of concurrent variant type 3 autoimmune polyglandular syndrome (APS) and pulmonary arterial hypertension (PAH). A previously healthy 65-year-old Japanese woman was referred to our university hospital with a 2-month history of general fatigue and hyperglycemia. Laboratory
Acute onset of type 1 diabetes accompanied by acute hepatitis C: the potential role of proinflammatory cytokine in the pathogenesis of autoimmune diabetes.
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A 22-year-old Japanese woman presented with general fatigue. Five days later, she demonstrated a body temperature of 39 degrees C and a loss in weight of 5kg. She thereafter became unconscious and was taken to Tomakomai City General Hospital. Urinary ketone body was positive, and plasma glucose was
New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.
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Background: Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a
Concurrent minimal change nephrotic syndrome and type 1 diabetes mellitus in an adult Japanese woman: a case report
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Background: Concurrent type 1 diabetes mellitus (T1DM) and idiopathic nephrotic syndrome is rare, and most previously reported cases were in children. We report the case of an adult woman who developed T1DM and minimal change nephrotic
Combination immune checkpoint inhibitor therapy nivolumab and ipilimumab associated with multiple endocrinopathies.
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Immune checkpoint inhibitors are the mainstay of treatment for advanced melanoma, and their use is being increasingly implicated in the development of autoimmune endocrinopathies. We present a case of a 52-year-old man with metastatic melanoma on combination nivolumab and ipilumimab therapy who
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