Epilepsy with central spikes provoked by fever with a benign disease course

2011 ◽  
Vol 122 (10) ◽  
pp. 2110-2112
Author(s):  
Maaike J. Vos ◽  
Cornelis J. Stam ◽  
Hanneke E. Ronner ◽  
Nicole I. Wolf
Keyword(s):  
Benign Disease ◽  
Disease Course

scholarly journals Long-Time Course of Idiopathic Small Fiber Neuropathy

2018 ◽  
Vol 79 (3-4) ◽  
pp. 161-165 ◽  
Author(s):  
Pia Flossdorf ◽  
Walter F. Haupt ◽  
Anna Brunn ◽  
Martina Deckert ◽  
Gereon R. Fink ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Time Course ◽  
Benign Disease ◽  
Small Fiber Neuropathy ◽  
Disease Course ◽  
Peripheral Neuropathies ◽  
Small Fiber ◽  
Long Time ◽  
Large Fiber

Background: Small fiber neuropathy (SFN) is a challenging subtype of peripheral neuropathies. Once the diagnosis has been established, there is an uncertainty how SFN may progress, whether larger fibers will become involved over time, whether quality of life may be compromised, or whether repeated diagnostic workup in patients with unknown underlying cause may increase the yield of treatable causes of SFN. Methods: We evaluated 16 patients with documented long-time course of idiopathic SFN. Results: Clinical and electrophysiological course remained stable in 75% of the patients, while 25% SFN-patients developed large fiber neuropathies. Conclusions: Our data suggest that SFN represents a benign disease course in the majority of patients without severely limiting the quality of life.

scholarly journals Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

2019 ◽  
Vol 139 (1) ◽  
pp. 193-209 ◽  
Author(s):  
Annika K. Wefers ◽  
Damian Stichel ◽  
Daniel Schrimpf ◽  
Roland Coras ◽  
Mélanie Pages ◽  
...  
Keyword(s):  
Benign Disease ◽  
Diffuse Glioma ◽  
Gene Fusions ◽  
Disease Course ◽  
Tumour Entity ◽  
Recurrent Gene Fusions

scholarly journals Gastrointestinal symptoms as Covid-19 onset in hospitalized Italian patients

2020 ◽  
Author(s):  
Elisabetta Buscarini ◽  
Guido Manfredi ◽  
Gianfranco Brambilla ◽  
Fernanda Menozzi ◽  
Claudio Londoni ◽  
...  
Keyword(s):  
Respiratory Symptoms ◽  
Ventilatory Support ◽  
Gastrointestinal Symptoms ◽  
Benign Disease ◽  
Nasopharyngeal Swab ◽  
Disease Course ◽  
X Ray ◽  
Non Invasive ◽  
Gi Symptoms ◽  
Chest X Ray

ABSTRACTObjectiveTo assess the prevalence of gastrointestinal symptoms and their correlation with need of non-invasive ventilatory support, intensive care unit admission and death in hospitalized SARS-CoV-2 patients.DesignSince February 21th 2020, all individuals referred to our emergency department for suspected SARS-CoV-2 underwent a standardized assessment of body temperature and pulse oximetry, hematological screening, chest X-ray and/or computed tomography (CT), and SARS-CoV-2 assay on nasopharyngeal swab. Medical history and GI symptoms including nausea, vomit, diarrhea, and abdominal pain were recorded. were recorded.ResultsGI symptoms were the main presentation in 42 (10.2%) of 411 patients, with a mean onset 4.9 +/-… days before admission. In 5 (1.2%) patients GI symptoms have not been associated with respiratory symptoms or fever. We found an inverse trend for ICU admission and death as compared with patients without GI symptoms.ConclusionsGI symptoms can be an early and not negligible feature of Covid-19, and might be correlated with a more benign disease course.

scholarly journals SARS-CoV-2 Trasmission and Outcome in Neuro-rehabilitation patients hospitalized at Neuroscience Hospital in Italy

2020 ◽  
Vol 12 (1) ◽  
pp. e2020063
Author(s):  
Francesco Di Gennaro
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Manifestations ◽  
Benign Disease ◽  
Type Ii ◽  
Disease Course ◽  
Neurological Damage ◽  
Radiological Findings ◽  
Diabetes Mellitus Type Ii ◽  
Neurological Patients ◽  
Fatal Complications

ABSTRACT Introduction:  Patients admitted to intensive neurorehabilitation facilities following neurological damage who developed SARS-CoV-2 infection during hospitalization have not yet been reported. Such patients are elderly, with severe disabling neurological syndromes, more likely have significant underlying comorbidities and develop fatal complications during the disease. We reported clinical features, underlying comorbidities, laboratory and radiological findings, treatment and outcome of severely disabled neurological patients with SARS-CoV-2 infection. Methods:  We retrospectively analyzed a group of 14 patients affected by severe neurological damage previously admitted to the Neurorehabilitation Unit of Neuromed Research Institute in Pozzilli, Italy, who developed confirmed COVID-19 during a SARS-CoV-2 outbreak occurred on March, 2020. Results:  One out of 14 patients (7%) died after developing a severe acute respiratory distress. The remaining patients did not present any symptom or laboratory or radiological signs of the disease; neither new neurological deficit nor worsening of the pre-existing clinical manifestations were observed. Thirtheen patients had underlying comorbitidies (93%), the most frequent being hypertension (11 patients, 78.5%) and diabetes mellitus type II (7 patients, 50%). Long before infection, all patients were already under anticoagulant therapy with enoxaparin. Conclusions:  In 13 out of 14 patients, the infection was asymptomatic; this is particularly intriguing considering their severe neurological clinical profile. According to the pivotal role played by inflammation and activation of blood coagulation in the pathogenesis of COVID-19, the anti-inflammatory and anticoagulant properties of enoxaparin, administered much earlier and during infection, could have favored an extremely benign disease course in these patients at high risk of poor outcome. Keywords: SARS CoV 2, neurological patients, neurological damage, Infection, Coronavirus    

scholarly journals A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Valérie Biancalana ◽  
John Rendu ◽  
Annabelle Chaussenot ◽  
Helen Mecili ◽  
Eric Bieth ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Clinical Presentation ◽  
De Novo ◽  
Congenital Myopathy ◽  
Benign Disease ◽  
Disease Course ◽  
Muscle Disorders ◽  
Uncertain Significance ◽  
Human Disorders ◽  
Muscle Biopsies

AbstractThe ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disorders including malignant hyperthermia, central core disease, and centronuclear myopathy. However, RYR1 is one of the largest genes of the human genome and accumulates numerous missense variants of uncertain significance (VUS), precluding an efficient molecular diagnosis for many patients and families. Here we describe a recurrent RYR1 mutation previously classified as VUS, and we provide clinical, histological, and genetic data supporting its pathogenicity. The heterozygous c.12083C>T (p.Ser4028Leu) mutation was found in thirteen patients from nine unrelated congenital myopathy families with consistent clinical presentation, and either segregated with the disease in the dominant families or occurred de novo. The affected individuals essentially manifested neonatal or infancy-onset hypotonia, delayed motor milestones, and a benign disease course differing from classical RYR1-related muscle disorders. Muscle biopsies showed unspecific histological and ultrastructural findings, while RYR1-typical cores and internal nuclei were seen only in single patients. In conclusion, our data evidence the causality of the RYR1 c.12083C>T (p.Ser4028Leu) mutation in the development of an atypical congenital myopathy with gradually improving motor function over the first decades of life, and may direct molecular diagnosis for patients with comparable clinical presentation and unspecific histopathological features on the muscle biopsy.

Sign in / Sign up

Export Citation Format

Share Document