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Familial Alzheimer disease

Familial Alzheimer's disease (FAD) is an uncommon form of Alzheimer's disease that comes on earlier in life (usually between 30 and 60 years of age) and is inherited in an autosomal dominant fashion. While it only accounts for 5% or less of total Alzheimer's disease, it has presented a useful model in studying various aspects of the disorder. more...

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Clinical features

Alzheimer disease (AD) is the most common form of dementia. It usually occurs in old age, and starts gradually with early signs being forgetfulness, particularly in remembering recent events and the names of people and things. There may be some other cognitive difficulties early on, but nothing overly alarming.

As the disease progresses, the patient may start to exhibit greater problems. They may forget how to do simple things such as brushing their hair, and later in the disease may become anxious or aggressive, ultimately needing full-time care.

Familial Alzheimer disease is an uncommon form of Alzheimer's that comes on earlier in life (usually between 30 and 60 years) and is inherited in an autosomal dominant fashion. There are a number of types of familial (or early-onset) AD, which are identified by their genetics and other characteristics such as the age of onset. As a whole, this form of the disease only accounts for roughly 10% to 15% of all cases of AD.

Histologically, familial AD is practically indistinguishable from other forms of the disease. Deposits of amyloid can be seen in sections brain tissue (visible as an apple-green yellow birefringence under polarised light). This amyloid protein forms plaques and neurofibrillary tangles that progress through the memory centres of the brain. Very rarely the plaque may be unique, or uncharacteristic of AD; this can happen when there is a mutation in one of the genes that creates a functional, but malformed, protein instead of the ineffective gene products that usually result from mutations.

Genetic causes and mutations

There are multiple genetic causes of Alzheimer disease. Two of these are the presenilin polymorphisms on chromosomes 1 and 14, Others include several amyloid precursor protein polymorphisms and one of the four common alleles of apolipoprotein E. Several other gene polymorphisms have also been identified to increase susceptibility to Alzheimer's.

PSEN1 - Presenilin 1

The presenilin 1 gene (PSEN1) was linked to the long arm of chromosome 14 (14q24.3) using a pedigree of 34 people suffering from early-onset Alzheimer disease by Campion (1995). The actual gene was identified by Sherrington (1995) to be PSEN1, and multiple mutations were identified. Mutations in this gene cause familial Alzheimer's type 3. This protein has been identified as part of the enzymatic complex that cleaves amyloid beta peptide from APP (see below).

The gene contains 14 exons, and the coding portion is estimated at 60 kb, as reported by Rogaev (1997) and Del-Favero (1999). The protein the gene codes for (PS1) is an integral membrane protein. As stated by Ikeuchi (2002) it cleaves the protein Notch1 so is thought by Koizumi (2001) to have a role in somitogenesis in the embryo. It also has an action on an amyloid precursor protein, which gives its probable role in the pathogenesis of FAD. Homologs of PS1 have been found in plants, invertebrates and other vertebrates.

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HONORING ETHICAL DECISION IN CARING FOR OLDER ADULTS WITH ALZHEIMER'S DISEASE (AD)
From Chart, 9/1/04 by Labunski, Alma J

In order to determine appropriate decision-making in the health care of older adults, the incorporation of ethics as a thoughtful process for determining the right and/or best decision is needed. As professionals, health care providers have great potential to help resolve challenges encountered in the care of older adults. However, they must incorporate ethics in order to help shape the decisionmaking process.

This paper is designed to review the principals of ethics and essential elements of a formalized ethical framework in determining appropriate decisions for health care. Using one current major healthcare challenge as an example, key features of Dementia of the Alzheimer's Type (DAT) known as Alzheimer's Disease (AD), will be described. Based upon ethical perspectives, components which incorporate quality care will be examined.

The discipline of ethics as historically rooted in philosophy and theology incorporates two major theories; that of "deontology' based upon the work of Iranian uel Kant and "utilitarianism". In the former, Kant proposed that right decisions are made by following certain rules or principals. He believed that Tightness of action depends on the inherent moral significance ofthat act. Well accepted examples are beneficence, nonmaleficence, autonomy, individual respect, alleviation of suffering and death with dignity.

The utilitarian process reflects benefits outweighing the burdens for individuals; it supposes the right to maximize the greatest good for the greatest number of people (Chitty, 2001). Common examples are, developing the concept of triage in the emergency treatment of people, and using the process to determine the allocation of federal health care dollars. An ethic of care, which developed over the past 15-20 years, assumes certain ethical standards and ideals of practice. It suggests that professionals comprise several qualities such as, maximal competence in their area of practice, contribution of service with significant roles, ability to practice with autonomy, competent decision making, and the significance of a holistic perspective which addresses all needs of patients. The process emphasizes quality and quantity of life. Also, upon clarifying professional's own ideals, the ethic of care standards implore professionals to ask, what is their commitment to their patient?

The Code of Ethics for Nurses with Interpretive Statements (ANA 2001) document is worthy of everyone's attention and adherence. Some nurse researchers have adopted the Nursing Ethics of Care as a complement to the above principles of the Code. They assume concepts of personhood, health, environment, and nursing to determine what is best concomitant with patients' values, feelings and goals. These also include care for older adults in communities and families as well as with individuals. At the societal level, standards of care should include specific principles for older adults regarding services, health care resources, rights of institutionalized patients, and balancing the need for research with the rights of the older adults to participate or refuse participation in research.

Regarding individuals and families, professionals' concerns should include:

1. Issues regarding aggressive care

2. How to handle mental incompetence and preserve personhood

3. How to preserve autonomy

4. How to address conflicts of interest among family members, health care providers and individuals.

Confusion about the gerontological health care provider's role with patients in long-term care and the home where increased technology has prolonged their life (Matteson, McConnell & Linton, 1998). It has also heightened the ambiguity about moral choices and the conflicts over the decision- making process, which creates stress for families and professionals alike.

To guide decision-making in ethically considering various challenges regarding older adults, formalized frameworks serve as useful tools. The "right" or "best" decision is often not readily apparent and these can be highly disturbing to all involved. Ethically, essential elements to be considered are:

1. What is the specific ethical problem?

2. What are the facts of the situation?

3. Decision making questions pertaining to:

a. Who are the decision-makers?

b. What are the moral principals involved?

c. What are the opinions and consequences pertaining to the situation?

d. What ethic of care includes spiritual, compassionate discernment of patients' wishes and best interests? (Matteson, McConnell & Linton, 1998, p. 128)

In working with families of older adults, members who have been most intensely involved should rightfully have the most influence in the decision-making process. Several useful models depicting these guidelines are available for professionals. Interaction among professionals regarding the most valuable is advisable. Using the guidelines provided for a standard of care, measures to promote the decision-making process were advocated. First, is learning the patient's history and his/her value toward life. second, selfdetermination legislation such as the Patient Self Determination Act must be used. The Act requires that any health care institution accepting Medicare and Medicaid monies, must inform their clients regarding their right to care. Of the advanced directives, the Living Will is the most common. Another is the Durable Power of Attorney (DPA) for health care decisions. However, even though this option is available, patients often do not take advantage of this until they are hospitalized and are faced with endorsing an advanced directive form. And, they frequently do not understand the implications of endorsement.

In one study, which pertained to competent hospitalized patients, only 35% revealed interest in appointing a DPA. Only 10% evidenced interest in completing a living will (Shawlet etal., 1992).

Professionals know that ethical principles undergirding standards of care for older adults include:

1. The right to quality health care. This means that older adults have rightful access to the best care available.

2. Respect for individuals, for their personhood, indicating that they are inherently worthy and valuable. In a dementia care mapping scale (DCMS) completed by Alzheimer's patients, they rated themselves having higher quality of life than those who cared for them.

3. Beneficence or "doing good" for older adults in particular situations, i.e., relieving suffering and preserving life.

4. Autonomy is critical in caring for older adults. They should be respected as decision-makers about their own care. Since they have varying capacities to make different types of decisions, individuals should be encouraged to function at the highest level of decision-making possible. Patient's have times (eg. Morning hours) when they are clearest and they should be given the opportunity at those times.

5. Substituted judgment (ie. Surrogate decision-makers) must come if the patients are unable to continue. These members (usually family who are most involved) should make decisions focused upon patients' previous values and choices. What is in the "best interest" of the patient, may also be used in decisionmaking (President's Commission for the Study of Bioethics, 1983).

6. Distributive justice is equal satisfaction of equal need.

As professionals strive to honor ethical decisions in caring for older adults, it is also critical that they are informed of the key features, which depict specific health problems of the patients. Since this presentation pertains to the care patients with dementia of the Alzheimer's type, the following key features are described and explained.

Alzheimer's Disease is a chronic, progressive, degenerative illness associated with neuropathological changes among older adults. As the most common cause of dementia, (i.e. 50%) of dementia cases, AD's duration is between five and 12 years. Death is usually attributed to complications of the disease, such as pneumonia, systemic infections, vascular disease and accidental trauma.

The onset of disease is insidious and usually occurs after 55 years of age. The earlier the onset, the more likely the patient's immediate relatives will develop the disease. The inherited form is carried by a dominant trait; it is caused by an abnormal gene or chromosome 21 (Blennow, etal, 1994). However, researchers know that overall, familial AD is associated with chromosomes 14, 19 and 21. Shrinkage of gray matter of the brain begins at the hippocampus; hence, short-term memory is the first to be lost. Clinical diagnosis is made via a thorough history and ruling out of any potential physical and/or mental manifestations that may mimic symptoms of AD. Definitive diagnoses are made only at autopsy. Distinctive neurological changes are noted. Hallmark characteristics include neurofibrillary tangles, argyrophilic plaques (lesions occupying neutrophils) and granulovacular bodies (degenerating pyramidal neurons in the hippocampus) which would be unlikely in the normal aging process. Thereafter, the plaques are found in the cortex, progress to the parietal, the temporal, the occipital and then finally to the frontal region of the brain.

In later stages, the Electroencephalogram (EEG) may show some other types of dementia. Theta-range slowing and scanning may reveal mild cerebral atrophy, but these aren't peculiar to AD only; they are also evidenced in other types of dementia. Hence, no definitive diagnosis may be made until autopsy at the time of death.

Since the onset of AD is insidious, manifestations are gradual but progressive. Staging is currently being used to classify the extent of these symptoms. Listing of stages one through seven are depicted in Appendix A (Matteson, McConnell & Linton [1998, p.296]). Behaviors are disturbing especially to the caregivers as the disease progresses. Personality changes are major and interventions of AD focuses on management of manifestations of symptoms, since no known cure currently exists.

One of the most challenging behaviors pertains to agitation. Agitation may be due to fear, pain, constipation, fever, incontinence or urinary tract infection. Using ethical perspectives, behavioral interventions and management include the following:

1. Thoroughly assess possible causes

2. Eliminate causative problem

3. Simplify tasks

4. Maintain consistent routine

5. Remain calm, non threatening, distracting to redirect patient's attention

6. Be sensitive, realistic to what patient can or can't do

7. Don't try to establish reality orientation. It is not possible for the AD patient. In fact, attempts at reality orientation is a major source of frustration to both patients and caregiver. It causes greater agitation. Remember that deteriorating disease tissue prohibits any possible resolution.

8. Wandering aimlessly is challenging physically, emotionally and ethically. Although complicated, locks must be concealed. Also, an official sign stating "STOP" or "DO NOT ENTER" helps to deter patient. It is advised to put medical alert tags on patients. Sometimes they wander aimlessly outdoors with their pajamas or naked. Follow patient; distract him/her, strike a friendly conversation and he will forget he wants to continue being outside. You will be able to direct him back to his home/ room, etc.

9. Push fluids. If fluids are depleted, they become more agitated.

10.Note the role of medications to alleviate manifestations of symptoms. Medications change the manifestations within one stage, but do not improve stages and change stages. In other words, patients consuming the drug will not change from stage two to return to stage one; rather, they remain in the same stage two, however, manifest reduced symptoms. Medications are controversial ethically and medically. Medications should be given for the patient's benefit and not the caregiver's. Drugs should be initiated with caution and in low doses as much as possible. Side effects may aggravate dementia. Using drugs are not without risk especially with increased confusion and extrapyramidal reactions. Orthostatic hypotension and psychomotor activity are decreased; blurred vision also may occur. Neuroleptics and benzodiazepines, which are central nervous system (CNS) depressants, should only be used for sleep disturbances in instances when other approaches fail. Also, the use of short-acting drugs should be emphasized; remember, however, that they may have side effects too. Older adults are much more susceptible to drugs. Nonetheless, if required, they are preferred to longer acting drugs.

Moreover, newer drugs which slow or stop the cognitive declining are currently in use for patients with mild, early stages of AD. These include cholinesterase inhibitors and/or cholinergics which retain acetycholine at the neuromuscular junction. (Tacrine Hydrochloride [Cognex], is seldom used due to its extensive potential liver dysfunction and toxicity; patients on this drug should be monitored very closely). Normally, cholinesterase breaks down acetycholine at the neuromuscular junction. Aricept, a cholinergic enhancer (i.e. cholinesterase inhibitor), currently is a commonly used drug; it appears to be safe, is given once per day, and requires no blood test monitoring. Nortropics such as Tensiletam (Tensilon) may improve storage of information. Other supplemental drugs such as calcium channel blockers (to reduce hearts contractility) and vitamins may be added to the list of medications ordered for the patient.

Antipsychotics used for AD are in many cases detrimental to the patient. Use of only a small amount and in absolutely essential cases is best practice. As indicated, these drugs are effective in only 30% of cases. They cause numerous side effects, such as stiffness, somnolence, and/or may have the opposite effect and cause increased agitation and confusion.

11. A safe environment is critical. If bedrails are used, they should be in a low position. Restraints should be avoided, and bedsides should be kept free of clutter; it makes them too confused and more agitated. Patients must continually be monitored closely.

12. A bladder and bowel pattern should be arranged to preserve their dignity and safety. They should be taken to the bathroom every two hours. Increased fluids are important, however, fluids should be limited in the later part of the day to avoid incontinence and/or attempts to get up during the night without supervision. Laxatives should also be avoided; these patients need high fiber diets and plenty of fluids to soften their stool.

13. Nutritious "finger foods" are acceptable, but the number of food items placed at the table should be limited. Viewing too many items is more confusing to the patient and a violation of his/her dignity. Also, the patient may aspirate if he puts too much into his mouth. In later stages, enterai feedings will be necessary to maintain proper nutrition.

14. Every effort should be made to keep the patient up during the day. He/she will be better able to sleep at night. All tests should be conducted in the morning or early afternoon only. Over stimulation should be avoided in the later day and in the evening. "Sundowners Syndrome" occurs. Restated, after 4 p.m. manifestations of AD become most prominent.

15. Maintaining a daily exercise regime will temporarily improve the patient's cognition.

16. In managing behavior with non-drug interventions, it is essential to remember that behavior always occurs in three parts: the triggering event, the behavior itself, and consequences of the behavior after the event occurs.

a. The triggering event is important to determine. Look for clues. The caregiver, may be demanding or maybe angry with the patient. There may have been a disturbing noise, or too much activity in the area. Look for what the likely cause is.

b. Behavior. Is he hitting the caregiver, or is he pulling her hair out? Determine what event occurred.

c. What are the consequences? What happens thereafter? How did the caregiver react? Did the caregiver respond by pulling the patient's hair back?

17. Bright Light Therapy is best incorporated in the morning hours. Recent research studies reveal increasing positive effects of the therapy.

18. When managing care during the last two stages (later 6th and 7th) (see Appendix A), the following should be incorporated:

a. When should the patient be placed into long term care (LTC)? Although each individual varies, there are definite clues: when the patient no longer recognizes his caregiver and others, when the caregiver is unable and/or refuses to handle the patient, when the caregiver shows evidence of stress and deterioration, when the patient becomes threatening, etc. (Refer to Appendix B).

b. Ethically, psychiatric units must be avoided at all costs. Even in moderate stages, if the patient has a physical illness and must be hospitalized, the patient should not be placed in a psychiatric unit; he/she does not belong there.

c. Placing the patient in a Special Care Unit is a growing trend, since these are designed to provide specific care for patients with dementia. The units are either freestanding facilities or units within one facility. The staff is trained to acre for Alzheimer's patients and the units are designed for those AD patients.

Over 2000 AD units are currently in place nation wide. Research conducted by the University of Iowa in 1999 as a two-part study, revealed the positive results of special care units (SPU). They conducted a study with responses from 112 LTC advocates, 60 directors, and 453 families in 29 states. Results indicated that almost all were satisfied with SCU facilities for their patients.

In compliance with the Nursing home Reform Law enacted in 1987 (OBRA, 1987), the Alzheimer's Association (AA), recommended that the reform law require full disclosure by facilities of the special services they provide. Restated any hidden costs of LTC for AD patients must be disclosed. Hence, results of the recent study are likely more accurate than one would predict. Families are often afraid to place loved ones into the LTC. And, once patients are admitted into LTC, the families are afraid to say anything for fear that their loved ones care will be sacrificed and compromised. They often exhibit an angry "no one in the family is helping me" attitude. However, they may continue to resist additional help. They need increasing support and ongoing assistance.

d. Hospice care programs are offered to AD patients in later stages. The programs care for the patients from 60 days to sixmonths by offering interdisciplinary assistance and helping the patient in the least restrictive environment. They are managed by Medicare and provide financial support, staffing and volunteer assistance. They provide continuing 24 hour monitoring home care; they provide respite care up to five days at a time so the family will have time to rest. In LTC facilities, patients may be placed in hospice care as well. These are for non-ambulatory patients who have minimal or no verbal skills and have little if any physical tolerance. And managed care organizations currently include AD coverage so that patients may be cared for financially. Staff training, however, is necessary to provide for ethically qualified care to AD patients. More staff is needed for care. The environment must be quiet, away from distractions and well lit. The floor should be carpeted in order to soften the noise. The room should have a soft, bright appearance.

Overall, the key to providing ethically competent care for patients and their families rests upon professionals' performance, which is based upon appropriate decision making. It is critical to providing quality care for their patients. They must be well informed, be able to educate the public, and must specifically prepare caregivers and family members regarding what assistance is available for them. They also need to provide and/or obtain ongoing counseling and support for the caregivers.

In summary, this paper reviewed the principals of ethics and the essential elements of a formalized ethical framework in determining appropriate decisions for quality care. It addressed the key features of patients with dementia related to Alzheimer's, reviewed principles of acre for AD patients and their families, and the measures required to promote ethical decision making for patients who are affected by AD.

References

American Nurses Association (ANA) (2001). Code for Nurses with Interpretive Statements. Kansas City, MO: ANA.

Barby, P. (1991). Alzheimers by Moonlight. Geriatric Nursing. 12, 292293.

Beauchamp, T. and Childress, F. (1994). Principles of Biom├ędical Ethics, (4lh ed.). New York: Oxford University Press.

Bloom, C. and Brown J. (1991). Success with Wanderers. Geriatric Nursing, 12, 20.

Carneval, D. and Patrick, M. (1991). Nursing management of the Elderly. (3nl. ed.) Philadelphia: Lippincott.

Chitty, K. K. (2001) Professional Nursing: Concepts and Challenges. (3"1 ed.). Philadelphia, Saunders.

Epps, C. (2001). Recognizing pain in the Institutional Elder with Dementia. Geriatric Nursing, 22, (2), 71-77.

Feinberg, L. and Ellano, C. (Fall 2000). Promoting Consumer Direction for Family Caregiver Support: An Agency-Driven Model. Generations, 24, (11).

Haight, B. (First Quarter 2001). Life Reviews: Helping Alzheimers Patients Reclaim a Fading Past. Reflections in Nursing Leadership, 27, 1, 20-22.

Matteson, M.A., McConnell, E.S. and Linton, A.D. (1998). Gerontological Nursing (2'"' ed.) Philadelphia: Saunders.

Miller, C.A., (1998). Ethical Issues Concerning Clinical Trials. Geriatric Nursing, 19, (6), 346-347.

President's Commission for the Study of Ethical Problems in Medicine and Biomedical Research. (1983). Deciding to Forgo Life-sustaining Treatment. Washington DC: US. Government Printing Office.

Shawler, C., etal. (1992). Clinical Considerations: Surrogate Decisionmaking for Hospitalized patients. Journal of Gerontological Nursing, 18, (6), 5-11.

Williams, M. (1991). Alzheimer's Unit by Design. Geriatric Nursing, 11,(1), 48.

By Alma J. Labunski, EDD, MS, RN

Copyright Illinois Nurses Association Sep/Oct 2004
Provided by ProQuest Information and Learning Company. All rights Reserved

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