Amyotrophic lateral sclerosis caused by the expansion in Norway - prevalence, ancestry, clinical characteristics and sociodemographic status.

Objective: The most common genetic cause of amyotrophic lateral sclerosis (ALS) is the expansion. A high incidence of this expansion has been detected in Sweden and Finland. This Norwegian population-based study aimed to identify the prevalence, geographic distribution, ancestry, and relatedness of ALS patients with a expansion (C9).

Repeat expansions in , , and in Norwegian patients diagnosed with amyotrophic lateral sclerosis.

Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington's disease and Kennedy's disease. Repeat expansions in the same gene can cause multiple clinical phenotypes. We aimed to characterize repeat expansions in a Norwegian amyotrophic lateral sclerosis cohort.

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

Objective: In Norway, 89% of patients with Amyotrophic lateral sclerosis (ALS) lacks a genetic diagnose. ALS genes and genes that cause other neuromuscular or neurodegenerative disorders extensively overlap. This population-based study examined whether patients with ALS have a family history of neurological disorders and explored the occurrence of rare genetic variants associated with other neurodegenerative or neuromuscular disorders.

Lacking a Primary Care Physician Is Associated With Increased Suffering in Patients With Severe Mental Illness.

We evaluated the relationship between lack of a primary care physician (PCP) and patients with severe mental illness (SMI), who have poorer health and experience more suffering. Using a blinded retrospective record review of 137 patients with SMI, divided between inpatients (n = 70) and outpatients (n = 67), we compared the two groups to determine if lack of a PCP is associated with increased suffering and worse overall health. We included history of preventive services, having a PCP, and comorbid conditions.

Docosahexaenoic acid activates some SREBP-2 targets independent of cholesterol and ER stress in SW620 colon cancer cells.

The SREBP-2 transcription factor is mainly activated by low cellular cholesterol levels. However, other factors may also cause SREBP-2 activation. We have previously demonstrated activation of SREBP-2 by the polyunsaturated fatty acid docosahexaenoic acid (DHA) in SW620 colon cancer cells.

A 'stages of change' approach to helping patients change behavior.

Helping patients change behavior is an important role for family physicians. Change interventions are especially useful in addressing lifestyle modification for disease prevention, long-term disease management and addictions. The concepts of "patient noncompliance" and motivation often focus on patient failure.

Senile dementia of the Binswanger's type.

Senile dementia of the Binswanger's type is a term used to describe a dementia syndrome characterized by onset in the sixth or seventh decade of life, subcortical neurologic deficits, psychiatric disorders and evidence of hypertension or systemic vascular disease. The status of senile dementia of the Binswanger's type as a distinct entity is a matter of some controversy. The array of neuroimaging abnormalities and clinical findings attributed to this condition overlap with a number of other neuropathologies.

Comorbid disease in geriatric patients: dementia and depression.

As the population ages, Alzheimer's disease and depression are becoming increasingly common concerns for primary care physicians. While the comorbidity of Alzheimer's disease and depression presents a complex diagnostic and management challenge, treatment can improve the patient's quality of life. Changes in functional status, complaints of pain and fluctuations in mental status may signify the onset of depression in a patient with dementia.

The role of the family physician in the day care setting.

Injuries and infectious respiratory, gastrointestinal and dermatologic diseases are common in day care settings. Most day care injuries are contusions, abrasions and cuts involving the head and extremities. Impact-absorbing surfaces under playground equipment, safely-proofing of all play areas, increased staff supervision, and staff and parental education might reduce injuries by as much as 75 percent.

Myxedema coma in the elderly.

Background: Myxedema coma in the elderly, although uncommon, is frequently overlooked and has a high mortality rate. Signs and symptoms are many and are often insidious. Nearly every organ system is involved.

Delay of diagnosis and empiric treatment of angiotensin-converting enzyme inhibitor-induced cough in office practice.

Objective: To evaluate the length of time taken to diagnose cough due to the use of an angiotensin-converting enzyme (ACE) inhibitor and the frequency of interim diagnoses and treatments given in an office practice.

Design: Retrospective case study.

Setting: Two academic group family practice offices.

Informational yield of comprehensive Geriatric Home Assessment.

Objective: The purpose of this study was to compare the relative informational yield of Geriatric Home Assessments with medical charts of patients seen in family practice settings.

Methods: The information from comprehensive Geriatric Home Assessments of 28 well-established patients, conducted by small groups of medical students in a family practice clerkship, was compared with information available in the medical charts of these patients for the previous three years.

Results: For no problem studied was identification in the medical chart as high as from the Geriatric Home Assessment.

Caring for nursing home patients: strategies to avoid conflict.

The need for primary care physicians to care for nursing home patients will continue to increase as America's population ages. Although some conflicts persist, nursing home practice can be gratifying for the physician if certain patient care strategies are followed. Measures that can help make the practice more efficient and rewarding include careful planning, setting limits on the practice, establishing patient goals early, developing a strong rapport with nursing home staff and patients' families, and gaining an understanding of local and federal regulations.

Breast disorders in nursing mothers.

Family physicians should be familiar with the details of breast feeding and with the breast disorders that may occur during lactation. Such disorders range from relatively minor problems, such as sore nipples, milk stasis and mastitis, to more serious conditions, such as abscesses and neoplasms. Inflammatory changes are easily treated with frequent breast emptying; infectious processes require antibiotics.

Comparison of the blastogenic response of peripheral blood lymphocytes from canine parvovirus-positive and -negative outbred dogs.

Lymphocyte blast transformation assays (LBT) were performed on canine parvovirus (CPV) -positive and -negative mongrel dogs randomly selected from a humane facility. Concanavalin A as well as Phytohemagglutinin P stimulation was depressed (p less than 0.001) in the group of animals shedding CPV compared to CPV-negative dogs.