• Genomics & Informatics
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• v.19 no.4
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• pp.44.1-44.9
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• 2021

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

• Korean Journal of Psychosomatic Medicine
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• v.24 no.1
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• pp.28-42
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• 2016

Objectives : The author tried to find out reasons why and how hysteria(and conversion disorder) patient numbers, which were so prevalent even a few decades ago, have decreased and the phenotype of symptoms have changed. Methods : The number of visiting patients diagnosed with conversion disorder and their phenotype of symptoms were investigated through chart reviews in a psychiatric department of a University hospital for the last 12 years. Additionally, the characteristics of conversion disorder patients visiting the emergency room for last 2 years were also reviewed. Those results were compared with previous research results even if it seemed to be an indirect comparisons. The research relied on Briquet P. and Charcot JM's established factors of the vicissitudes of hysteria(and conversion disorder) which has been the framework for more than one hundred and fifty years since hysteria has been investigated. Results : The author found decreased numbers and changes of the phenotype of the hysteria patients(and conversion disorder) over the last several decades. The decreased numbers and changes of the symptoms of those seemed to be partly due to several issues. These issues include the development of the diagnostic techniques to identify organic causes of hysteria, repeated changes to the symptom descriptions and diagnostic classification, changes of the brain nervous functions in response to negative emotions, and the influence of human evolution. Conclusions : The author proposed that the evolutionary brain discord reaction theory explains the causes of disappearance of and changes to symptoms of hysteria(conversion disorder). Most patients with hysteria(conversion disorder) have been diagnosed in the neurological department. For providing more appropriate treatment and minimizing physical disabilities to those patients, psychiatrists should have a major role in cooperating not only with primary care physicians but with neurologists. The term 'hysteria' which had been used long ago should be revived and used as a term to describe diseases such as somatic symptom disorder, functional neurological symptoms, somatization, and somatoform disorders, all of which represent almost the same vague concept as hysteria.