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Showing 1 - 6 of 6 matches in All Departments
The technical advances in molecular biology have endowed us with a
wealth of knowledge, which has allowed us to identify the cause of
diseases not only at a single gene level but at a greater
magnitude, where a substitution or deletion of a single base pair
can be identified. Our present task is to establish a clear link
between phenotype and nucleotide sequence. Obviously, a gene is no
longer an imaginary entity. Recent discoveries in a number of
bewildering traits, whose inheritance do not follow simple
mendelian rules, have caused much amazement. For example, fragile
X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy
arise from "triples repeat mutation" and amplification in future
generations. Genetic diseases which are inherited, can now be
diagnosed prenatally; an idea that was once inconceivable.
The Genetical Theory of Natural Selection by R.A. Fisher (1930)
dictated that sexual dimorphisms may depend upon a single medelian
factor. This could be true for some species but his suggestion
could not take off the ground as gender in Drosophila is determined
by the number of X chromosomes. Technical advances in molecular
biology have revived the initial thinking of Fisher and dictate
that TDF or SRY genes in humans or Tdy in mice are sex determining
genes. The fortuitous findings of XX males and XY female, which are
generally termed sex reversal phenomenon, are quite bewildering
traits that have caused much amazement concerning the pairing
mechanism(s) of the pseudoautosomal regions of human X and Y
chromosomes at meiosis. These findings have opened new avenues to
explore further the genetic basis of sex determination at the
single gene level.
The laws of inheritance were considered quite superficial until
1903, when the chromosome theory of heredity was established by
Sutton and Boveri. The discovery of the double helix and the
genetic code led to our understanding of gene structure and
function. For the past quarter of a century, remarkable progress
has been made in the characterization of the human genome in order
to search for coherent views of genes. The unit of inheritance
termed factor or gene, once upon a time thought to be a trivial an
imaginary entity, is now perceived clearly as the precise unit of
inheritance that has continually deluged us with amazement by its
complex identity and behaviour, sometimes bypassing the university
of Mendel's law.
Medical students often feel they understand the theory behind the clinical aspect of medicine but seldom have enough chance to put what they learn into practice. In addition, clinical examinations pose a challenge to students who may be technically and theoretically excellent, but who have poor examination technique. It is quite common for students to lack understanding of how they will be marked, how much emphasis to place upon certain actions or how much detail is expected of them. 'OSCE CASES WITH MARK SCHEMES' is intended to fill this gap. It provides OSCE mark schemes to reflect the real OSCE experience, by encouraging self assessment when practicing the clinical scenarios. The book includes chapters on communication skills, medical ethics, explanation stations, paediatrics and obstetrics and gynaecology subjects which are sometimes neglected elsewhere. All four authors have taken part in medical student teaching and OSCE examinations. They understand what will earn marks in the actual exam. All the OSCE scenarios are from stations previously examined in the UK's top medical schools. This book prepares the student for what the actual finals exam will be like. CONTENTS: SECTION ONE, COMMUNICATION STATIONS - Presenting Complaints - Psychiatry History Taking - Pediatrics History Taking - Obstetrics History Taking - Gynaecology History Taking - Medical Ethics - Difficult Communication Scenarios - Pharmacology - Consenting - Explanation of Management and Results SECTION TWO, PERFORMANCE STATIONS - Examination Skills - Practical Skills - Data Interpretation - Closing Remarks
The underlying idea that cancer is a genetic disease at the
cellular level was postulated over 75 years ago when Boveri
hypothesised that the malignant cell was one that had obtained an
abnormal chromatin content. However, it has been only the last
decade where enormous strides have been made toward understanding
neoplastic development. Explosive growth in the discipline of
cancer genetics is so rapid that any attempt to review this subject
becomes rapidly outdated and continuous revisions are warranted.
Conclusive evidence has been reached associating specific
chromosomal abnormalities to various cancers. We have just begun to
characterise the genes, which are involved in these consistent
chromosomal rearrangements resulting in the elucidation of the
mechanisms of neoplastic transformation at a molecular level. The
identification of over 50 oncogenes has led to a better
understanding of the physiological process. Tumor suppresser genes,
which were discovered through inheritance mechanisms, have further
shed some light towards understanding the loss of heterozygosity
during carcinogenesis. The message emerging with increasing clarity
concerning specific pathways which regulate the fundamental process
of cell division and uncontrolled growth.
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