By Lena Palaniyappan, Rajeev Krishnadas
Following the release of the hot syllabus and new MRCPsych examination by way of the Royal university of Psychiatrists, this publication includes greater than 450 a number of selection inquiries to aid psychiatry trainees to organize for Paper 2 of the MRCPsych examination. helping those MCQs are exact explanatory solutions and revision notes, referenced to the main textbooks utilized by trainees.
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The disorder is also known as epiloia or Bourneville’s disease. Though most infants show signs in the ﬁrst year of life, clinical features can be subtle initially, leading to misdiagnosis for years. The disease-causing mutations are present in either of two genes, TSC1 and TSC2. TSC1 is present on chromosome 9 and produces a protein hamartin. The TSC2 gene is on chromosome 16 and produces a protein tuberin. The natural course is very variable, ranging from mild to severe illness. In addition to the benign tumours of kidney (cysts, angiomyolipomas), phakomas of eyes, cardiac tumours, and brain tumours (tubers, subependymal nodules, and astrocytomas) that frequently occur in tuberous sclerosis, other common symptoms include seizures, mental retardation, behaviour problems, and skin abnormalities.
Gene × environment interaction models of disease causation appear promising, as in Caspi’s work, and may possibly throw more light on the causal chains from gene to disease. Kendler KS. ‘A gene for. ’: the nature of gene action in psychiatric disorders. American Journal of Psychiatry 2005; 162: 1243–1252. Caspi A et al. Inﬂuence of life stress on depression: Moderation by a polymorphism in the 5-HTT gene. Science 2003; 301: 386–389. 41. A. It has been demonstrated that the ‘short’ polymorphism in the promoter region of the serotonin transporter gene (SLC6A4) is associated with impaired efﬁcacy of ﬂuvoxamine and paroxetine.
Mendelian disorders always present in childhood. 77. The term copy number variation refers to A. B. C. D. E. Differences in the number of copies of certain genes per genome Differences in the total number of genes in a genome Differences in genetic code between two normal parents of a diseased child Variations in single nucleotides of a functional genetic code Variations in length of promoter regions of certain transcription factors 78. From the following, chose the correct combination of trinucleotide repeats and fragile-X syndrome genotype.