By Gretchen M. Lentz, Roger A. Lobo, David M. Gershenson, Vern L. Katz
Finished Gynecology offers you entire, well timed, and straightforward entry to important info on the entire clinical and surgical concerns affecting your perform. no matter if you're a resident or practioner, you'll get all of the useful, in-depth insurance you must remain on the leading edge of your box. Now in its 6th version, this middle reference, previously edited by way of Drs. Droegemueller, Stenchever, Mishell and Herbst, is still your basic source for in-depth and updated information.
stay awake so far with the newest gynecologic advances via transparent writing, a medical concentration, and attention on evidence-based practices.
organize for the demanding situations you'll face in perform with a totally overhauled criminal bankruptcy containing authentic scenarios.
seek the entire textual content on-line at www.expertconsult.com.
remain present on your box with the newest advances in breast care; endoscopy and hysteroscopy; menopausal bone future health; criminal concerns affecting our perform; and lots more and plenty more.
entry cutting-edge tips at the most recent functions in diagnostic and interventional ultrasound - and lots of different crucial facets of today's perform - via special sections at the molecular biology of particular gynecologic malignancies and a brand new bankruptcy on Fallopian Tube and first Peritoneal Cancer.
realize the interactions and impacts of girl body structure on significant ailment approaches with a brand new bankruptcy at the interplay of scientific ailments and feminine Physiology.
tackle each patient's wishes with the Emotional matters in Gynecology bankruptcy, now transformed in partnership with a psychiatrist, and up to date details on depression/anxiety treatment.
Comprehensive Gynecology is the must-read textual content for either citizens and verified practitioners.
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Extra resources for Comprehensive Gynecology (6th Edition)
If the centromere is included in the inverted segment, it is called a pericentric inversion. If the centromere is not involved, then the inversion is called a paracentric inversion. Chromosome inversions are generally considered balanced and usually do not confer an abnormal phenotype unless one of the breakpoints disrupts a critical gene. Inversions, however, do interfere with pairing at meiosis and can result in gametes with chromosome abnormalities. 33 34 Part I B A SI C SC I E N C E Carrier of a balanced reciprocal translocation Pairing of chromosomes at meiosis leads to 6 potential gametes Adjacent (North-South) separation plane 1 3 + der(1) der(3) Unbalanced Unbalanced Alternate(Diagonal) Adjacent (East-West) + Normal + Balanced UnbalancedUnbalanced Figure 2-19 Schematic representation of segregation patterns of a diploid gamete with a reciprocal balanced translocation.
Several conditions are dealt with in more detail in other chapters of this book. Numerical Chromosomal Abnormalities Two terms are used in the description of numerical chromosomal abnormalities: aneuploidy refers to an extra or missing chromosome, such as in trisomy 21 (Down syndrome) or monosomy X (Turner syndrome), respectively; polyploidy refers to Mitochondrial DNA mutations Table 2-4 Some Mitochondrial Disorders and Their Features Nuclear DNA mutations 30 Disease Features Inheritance Pattern Leber’s hereditary optic neuropathy (LHON) Leigh disease (NARP) Blindness, rapid optic nerve death in young adulthood Maternal Neuropathy, ataxia, retinitis pigmentosa, mental retardation, lactic acidosis Myotonic epilepsy, ragged red fibers in muscle, ataxia, sensorineural deafness Mitochondrial encephalopathy, lactic acidosis, strokelike episodes, sensorineural deafness Maternal Limb movement abnormalities, dysarthria, absent tendon reflexes, triplet repeat affecting gene that codes for mitochondrial protein (Frataxin) Dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, growth deficiency, abnormal mitochondria Copper accumulation in brain and liver leading to cirrhosis, parkinsonism, and dystonia Autosomal recessive MERRF MELAS Friedreich’s ataxia Barth syndrome Wilson disease Maternal Maternal X-linked Autosomal recessive 2 numerical chromosome abnormalities in which there is an addition of an entire complement of haploid chromosomes, such as in triploidy, in which three haploid sets occur (69, XXX or XXY or XYY).
Examples include the RET, CDK4, and KIT oncogenes. The RET oncogene is the underlying cause of multiple endocrine neoplasia (MEN type 2). These individuals have an increased risk to develop endocrine tumors. Tumor suppressor genes restrain cell growth in damaged cells; therefore, loss of the tumor suppressor gene through mutation leads to increased cell proliferation of abnormal cells and cancer development. They account for the majority of autosomal dominant cancer syndromes. 1 PTEN LKB1 p16INK4a p14arf BRCA1 BRCA2 BRCA1 BRCA2 and BRCA2 genes, and the p53 gene (Li-Fraumini syndrome).