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Overall the long-term outcome for BT II patients is Laith Farid Gulli order 2 mg detrol otc, MD variable. Psychotherapy and education can assist the patient and family members with pertinent information Bloch-Sulzberger syndrome see concerning relapses, noncompliance with prescription Incontinentia pigmenti 162 GALE ENCYCLOPEDIA OF GENETIC DISORDERS IBloom syndrome KEY TERMS Definition Carcinoma—Any cancer that arises in the epithe- Bloom syndrome is a rare inherited disorder charac- lium, the tissue that lines the external and internal terized primarily by short stature and a predisposition to organs of the body. It is always associated with a Chromatid—Each of the two strands formed by decreased stability in the chromosomes that can be seen replication of a chromosome. Bloom syndrome (BS) was first described by Erythema—Redness of the skin due to dilatation of D. The hallmark of the disorder is genetic Homologues—Chromosomes or chromosome instability that manifests itself in chromosomes that tend parts identical with respect to their construction to exchange material with one another. Genetic profile Leukemia—Cancer of the blood forming organs which results in an overproduction of white blood BS is inherited in an autosomal recessive manner. The gene responsible for this disorder is known as BLM and it is located on chromosome 15, in band q26. Lymphoma—A malignant tumor of the lymph Changes or mutations in the BLM gene lead to decreased nodes. Chromosomes of people Sigmoidoscopy—The visual examination of the with BS will show an increased amount of gaps, breaks, inside of the rectum and sigmoid colon, using a and structural rearrangements. BS involves the tendency for deoxyribonucleic acid Telangiectatic—A localized collection of dis- (DNA) strands to exchange material, most likely during tended blood capillary vessels. DNA is the molecule that encodes the genetic information and determines the structure, function, and behavior of a cell. The exchange of DNA may occur As of 2001, it is known that mutations in the BLM between a chromatid of each of the two homologues of a gene lead to the symptoms of BS. However, the precise chromosome pair, forming a unique structure called a relationship between these mutations and the symptoms quadriradial, or between the two sister chromatids of one seen in BS is still unknown. BS is much more prone to spontaneous mutations, per- The BLM gene produces the BLM protein. The haps because the inadequate amount of BLM hinders the BLM protein is a member of the helicase family and is correction of these errors. This unwind- ing process provides single stranded templates for repli- Demographics cation, repair, recombination, and transcription.

The characteristic findings of short Because individuals with other forms of dwarfism stature discount 2mg detrol amex, rhizomelic shortening of the limbs, and specific are often misdiagnosed with achondroplasia, the exact facial features become more pronounced over time. Estimates of the addition to being diagnosed by physical examination, incidence of achondroplasia vary between 1/10,000 to individuals with achondroplasia have some specific bone 1/40,000 births. These include a mately 15,000 individuals with achondroplasia in the smaller spinal canal and a small foramen magnum. The spinal cord runs from the spinal canal through the foramen magnum and connects with the brain. Signs and symptoms The diagnosis of achondroplasia can also be made Individuals with achondroplasia have disproportion- prenatally either by ultrasound (sonogram) or by prenatal ate short stature, large heads with characteristic facial DNA testing. Sonograms use sound waves to provide an features, and rhizomelic shortening of their limbs. Prior to the last three months of pregnancy, it is difficult In individuals with achondroplasia, the upper arms are to use a sonogram to diagnose achondroplasia because shorter than the forearms and the upper leg (thigh) is the physical features may not be obvious. Many other dwarfing syndromes can look very achondroplasia have other characteristic limb differ- similar to achondroplasia on a sonogram. People with achondroplasia have a limited ability to rotate and extend their elbows. They generally develop Prenatal testing can also be done using DNA tech- bowed legs and may have in-turned toes. A sample of tissue from a fetus is obtained by feet are short and broad, as are their fingers and toes. This term is based upon the trident fork 10-12 weeks of pregnancy and amniocentesis is done used in Greek mythology and describes the unusual sep- between 16-18 weeks of pregnancy. Chorionic villi sam- 18 GALE ENCYCLOPEDIA OF GENETIC DISORDERS pling involves removing a small amount of tissue from the developing placenta. The fetal DNA is then tested to determine if it contains either of the two mutations responsible for achondroplasia.

Quantifying value for physician order-entry systems: A balance of cost and quality cheap 2 mg detrol. The book has truly been a coming together of academic and practitioner minds, without whom this book would merely have remained a scintilla of an idea quietly percolating away in the deepest recesses of my mind. I thank all contributors of this book for their excellent chapters; many contributors also served as reviewers, and additional thanks are due to these hard-working soles for giving up so much of their valuable time and collective energies. Thanks also to every- body who submitted proposals for giving me that most rare and coveted of headaches: a plethora of high quality and relevant submissions from which to choose. Sincere thanks to Professor Swamy Laxminarayan, chief of biomedical information engi- neering at Idaho State University in the USA for writing such a fine foreword and for his kind words and unstinting support in recent years. Professor Raouf Naguib, head of the Biomedical Computing Research Group (BIOCORE) at Coventry University in the UK was a great source of encouragement and provided me with extensive insights into the crazy world of academia. Virtually his first words to me came in the form of advice: to focus on that which I did best, words which obviously stuck with me. I additionally thank Raouf for encouraging me to form my Knowledge Management for Healthcare (KMH) research subgroup, which generated immediate interest and recognition from international academic and healthcare institutions and which continues to go from strength to strength. Ashish Dwivedi for his seminal work in the area of clinical and healthcare knowledge management and for forming the granite-like founda- tion of the KMH subgroup. I appreciate also the expressions of interest and words of support from my numerous interactions with conference delegates in the USA, Singapore, Mexico and the UK. Last, but by no means least, I thank my family for their support during the management of this, my latest project. Warwickshire, UK August 2004 Section I Key Opportunities and Challenges in Clinical Knowledge Management Issues in Clinical Knowledge Management 1 ChapterI Issues inClinical Knowledge Management: Revisiting Healthcare M anagement Rajeev K. Bali, Coventry University, UK Ashish Dwivedi, The University of Hull, UK Raouf Naguib, Coventry University, UK Abstract The objective of this chapter is to examine some of the key issues surrounding the incorporation of the Knowledge Management (KM) paradigm in healthcare. We discuss whether it would it be beneficial for healthcare organizations to adopt the KM paradigm so as to facilitate effective decision-making in the context of healthcare delivery.