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1.
Epilepsy Behav ; 154: 109730, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38521028

RESUMEN

PCDH19 clustering epilepsy (PCDH19-CE) is an X-linked epilepsy disorder associated with intellectual disability (ID) and behavioral disturbances, which is caused by PCDH19 gene variants. PCDH19 pathogenic variant leads to epilepsy in heterozygous females, not in hemizygous males and the inheritance pattern is unusual. The hypothesis of cellular interference was described as a key pathogenic mechanism. According to that, males do not develop the disease because of the uniform expression of PCDH19 (variant or wild type) unless they have a somatic variation. We conducted a literature review on PCDH19-CE pathophysiology and concluded that other significant mechanisms could contribute to pathogenesis including: asymmetric cell division and heterochrony, female-related allopregnanolone deficiency, altered steroid gene expression, decreased Gamma-aminobutyric acid receptor A (GABAA) function, and blood-brain barrier (BBB) dysfunction. Being aware of these mechanisms helps us when we should decide which therapeutic option is more suitable for which patient.


Asunto(s)
Cadherinas , Epilepsia , Protocadherinas , Humanos , Epilepsia/genética , Epilepsia/fisiopatología , Cadherinas/genética , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Femenino , Masculino , Relevancia Clínica
2.
Int J Neurosci ; 132(9): 857-859, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33292037

RESUMEN

PURPOSE: Hyperglycemia can present as many neurological problems, one of them is seizure. Different brain MRI features can be seen in focal seizures associated with nonketotic hyperglycemia that subcortical T2 hypointensity is the only characteristic one. Finding this MRI feature is highly valuable in early diagnosis and treatment. METHODS: Our patient was a 60-year-old female, a case of type 2 diabetes mellitus. She was brought to Emergency Room (ER) with focal colonic status epilepticus of right face and arm associated with confusion and drowsiness progressed over 2 weeks prior to admission. At first, acyclovir was started alongside anti-seizure medication with doubt of herpes encephalitis but antiviral was discontinued after normal LP result and characteristic MRI features. RESULTS: Subcortical T2 hypointensity in left temporal and insular lobe was seen on first MRI that was resolved on follow up MRI after she was treated. CONCLUSION: Epilepsia partialis continua in the setting of non ketotic hyperglycemia should be differentiated from that in herpes encephalitis in a diabetic patient presenting with subacute confusional state and focal status epilepticus considering characteristic MRI finding of subcortical T2 hypointensity.


Asunto(s)
Diabetes Mellitus Tipo 2 , Encefalitis por Herpes Simple , Epilepsia Parcial Continua , Hiperglucemia , Diabetes Mellitus Tipo 2/complicaciones , Electroencefalografía , Encefalitis por Herpes Simple/complicaciones , Encefalitis por Herpes Simple/diagnóstico por imagen , Epilepsia Parcial Continua/complicaciones , Epilepsia Parcial Continua/etiología , Femenino , Humanos , Hiperglucemia/complicaciones , Hiperglucemia/diagnóstico por imagen , Imagen por Resonancia Magnética , Persona de Mediana Edad
3.
Epilepsy Behav Case Rep ; 11: 96-98, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30834195

RESUMEN

•Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES.•Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores.•Early detection and treatment of ESES have a great impact on cognitive and language scores and final prognosis.

4.
Iran J Otorhinolaryngol ; 28(89): 407-411, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28008391

RESUMEN

INTRODUCTION: 90% of the tumors in the head and neck are squamous-cell carcinomas (HNSCC), which have overall 5- year survival rate between 50% -60%. CD44 has been shown to be associated with the prognosis. MATERIALS AND METHODS: Biopsy specimens of 51 patients with oral tongue SCC were evaluated by Immunohistochemistry (IHC) for the CD44 antibody. RESULTS: There was no significant correlation between CD44 and survival (P=0.77), age (P=0.4), CD44 and lymph node metastasis (P=0.87), sex (P=0.947), smoking (P=0.287) and tumor size (P=0.813). However, there was significant correlation between smoking and survival. CONCLUSION: There are widespread discrepancies among the findings in the literature regarding the prognosis of CD44 expression in OCSCC. Our study shows that the expression of CD44 is not a marker of aggressive behavior in oral tongue SCC. Consequently, CD44 cannot be considered as handy tool to establish the tumor behavior, prognosis and 5- year survival rate of these tumors.

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