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1.
Yonsei Medical Journal ; : 1051-1054, 2017.
Article Dans Anglais | WPRIM | ID: wpr-87982

Résumé

The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records. Of all 28 patients (15 males and 13 females), all showed bilateral symmetric proximal dominant weakness. Among them, 3 patients were classified as type I, 14 patients as type II, and 11 patients as type III. Twenty-five patients had scoliosis and eight of these patients received surgical treatment for scoliosis with improvement in clinical outcomes. Ventilator support was used in 15 patients. In terms of the diagnostic process, 15 patients had completed an electrodiagnostic study and muscle biopsy before genetic testing, and six of these patients were initially misdiagnosed with myopathy. Owing to the similar clinical features of SMA and congenital myopathy, an electrodiagnostic study and muscle biopsy could create confusion in the correct diagnosis in some cases. Therefore, it is recommended that genetic mutation analysis should be conducted along with an electrodiagnostic study or muscle biopsy in the diagnostic process for spinal muscular atrophy.


Sujets)
Humains , Mâle , Biopsie , Diagnostic , Exons , Dépistage génétique , Corée , Dossiers médicaux , Réaction de polymérisation en chaine multiplex , Amyotrophie spinale , Maladies musculaires , Études rétrospectives , Scoliose , Séoul , Respirateurs artificiels
2.
Neurointervention ; : 50-53, 2017.
Article Dans Anglais | WPRIM | ID: wpr-730366

Résumé

A 43-year-old male presented with daytime sleepiness at work and indifferent behavior like never before. Two weeks prior to hospital admission, he had episodic memory loss with well preserved remote memory. Brain MRI showed a dural arteriovenous fistula (DAVF) in the right lateral transverse sinus with a bilateral thalamic venous infarction. Cerebral angiography confirmed a right transverse sigmoid dural arteriovenous fistula with a feeding artery of the right occipital artery and left posterior meningeal artery. The DAVF was completely eliminated through multiple endovascular interventions. Recently, endovascular treatment has become one of the main therapeutic options to obliterate a fistulous site, which has led to a rapid diagnostic approach and management of DAVFs with high curative rates. We report a rare case of posterior fossa located at a dural arteriovenous fistula that caused rapid progressive dementia and was successfully eliminated through only endovascular treatment.


Sujets)
Adulte , Humains , Mâle , Artères , Encéphale , Malformations vasculaires du système nerveux central , Angiographie cérébrale , Côlon sigmoïde , Démence , Embolisation thérapeutique , Infarctus , Imagerie par résonance magnétique , Mémoire épisodique , Mémoire à long terme , Artères méningées
3.
Journal of the Korean Neurological Association ; : 112-115, 2016.
Article Dans Coréen | WPRIM | ID: wpr-197552

Résumé

BACKGROUND: Herpes simplex virus type 2 (HSV-2) is the second most common cause of viral meningitis and the most common cause of recurrent meningitis. Although the incidence of HSV-2 meningitis is high, its clinical characteristics are not well known. The purpose of this study was to review the clinical characteristics and prognosis of HSV-2 meningitis. METHODS: We analyzed patients who were admitted to the Department of Neurology at Severance Hospital with a final diagnosis of HSV-2 meningitis, as confirmed by applying the polymerase chain reaction to the cerebrospinal fluid (CSF) of patients. RESULTS: The study involved 998 patients with aseptic meningitis and 60 patients diagnosed with HSV-2 meningitis. The mean age at meningitis presentation was 32.5 years (range 18-54 years), and 72% of the patients were female. Common clinical symptoms were headache (100%), nausea and/or vomiting (83%), meningismus (57%), and fever (55%). Six patients had a history of genital herpes infection, and 11 had a past history of recurrent meningitis. The CSF study was notable for elevated protein (111.0±53.5 mg/dL, mean±standard deviation) and white cell count (332.0±211.3 cells/µL). The CSF/serum glucose ratio was 0.52±0.90. Various treatments were applied, including conservative care, antiviral agents, empirical antibiotics, and combined treatments. All patients recovered without serious neurologic sequelae. CONCLUSIONS: HSV-2 meningitis is relatively common, as are recurrent episodes. The clinical characteristics of HSV-2 meningitis are similar to those of other types of aseptic meningitis. HSV-2 meningitis is treated using antiviral therapy, and the prognosis is favorable even with conservative treatment.


Sujets)
Femelle , Humains , Antibactériens , Antiviraux , Numération cellulaire , Liquide cérébrospinal , Diagnostic , Fièvre , Glucose , Céphalée , Herpès génital , Herpès , Herpèsvirus humain de type 2 , Incidence , Syndrome méningé , Méningite , Méningite aseptique , Méningite virale , Nausée , Neurologie , Réaction de polymérisation en chaîne , Pronostic , Études rétrospectives , Simplexvirus , Vomissement
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