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1.
Artigo em Inglês | IMSEAR | ID: sea-177529

RESUMO

Introduction: Suicide attempt (SA) is in the middle of continuum of complex suicidal behavior phenotype. Psychiatric disorders and acute stressful life events (SLEs) are triggers for suicidal behavior. Serotonin system genes are often implicated in suicidal behavior. Tryptophan hydroxylase 2 (TPH2), exclusively expressed in the brain, is the rate-limiting enzyme for serotonin biosynthesis. TPH2 may be enrolled in stress-response mechanisms via hypothalamic–pituitary–adrenal axis, while TPH2 variant rs7305115 has been reported to affect gene expression in postmortem human pons. To date, only poor examination of this variant in etiology of suicidal behavior has reported conflicting results. The aim of the present study was to assess rs7305115 main effect and its interaction with acute SLEs in SA pathology among Serbian psychiatric patients. Methods: 165 suicide attempters and 188 suicide non-attempters, suffering from major psychiatric disorders, participated in the study. Acute SLEs score was assessed using the List of Threatening Experiences Questionnaire. Variant rs7305115 was genotyped using TaqMan-based allelic discrimination assay. Statistical analyses were done in SNPstats by applying logistic regression adjusted by psychiatric diagnoses. Results: Variant rs7305115 was not associated with SA in Serbian psychiatric patients, neither alone, nor in combination with acute SLEs, for all five models of inheritance tested (P>0.05). Discussion: Our finding does not support the main and moderating implication of TPH2 variant rs7305115 in SA liability among Serbian psychiatric patients. Further examination in larger samples of this variant in SA patology is necessary due to its functional relevance.

2.
Journal of Clinical Neurology ; : 130-132, 2013.
Artigo em Inglês | WPRIM | ID: wpr-205172

RESUMO

BACKGROUND: Myasthenia gravis (MG) and myotonic dystrophy type 2 (DM2) are rare disorders individually, and their coexistence in the same patient is very rare. We present a patient in which these two diseases coexisted. CASE REPORT: The patient complained of diplopia, fluctuating limb weakness, and difficulties in swallowing and speaking. A neurological examination revealed diplopia, facial, weakness of the neck and proximal limb muscles, dysphagia, dysphonia, and myotonia. The patient's mother had DM2 and her maternal grandfather had cataracts. MG was confirmed in our patient by positive results for neostigmine and a repetitive nerve stimulation test, and elevated serum anti-acetylcholine-receptor antibodies, while DM2 was confirmed by electromyography and genetic testing. The patient improved remarkably after treatment with anticholinesterases, corticosteroids, and azathioprine. CONCLUSIONS: This is the second reported case of the coexistence of DM2 and MG in the same patient. Since the symptoms of these two diseases overlap it is very important to keep in mind the possibility of their coexistence, so that MG is not overlooked in patients with a family history of myotonic dystrophy.


Assuntos
Humanos , Corticosteroides , Anticorpos , Catarata , Inibidores da Colinesterase , Deglutição , Transtornos de Deglutição , Diplopia , Disfonia , Eletromiografia , Extremidades , Testes Genéticos , Mães , Músculos , Doenças Musculares , Miastenia Gravis , Miotonia , Distrofia Miotônica , Pescoço , Neostigmina , Exame Neurológico
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