Living with Marfan syndrome II. Medication adherence and physical activity modification

We investigated the perceptions of and adherence to medication and physical activity guidelines in 174 adults with Marfan syndrome. Over 80% of those prescribed beta- and Ca2+-channel blockade reportedly adhere well to their medication regimen. The presence of cardiovascular symptoms and fatigue were positively correlated with the medication use. Medication-takers reported that they are psychologically receptive to the use of medication for prophylactic treatment of their cardiovascular problems. However, all do not view their medication as essential for their health. Duration of the medication regimen, type of medication, and perception of controllability of the condition were each independently associated with respondents' perceptions of the necessity of taking beta- or Ca2+-channel blockers. Over 80% of the respondents reported that they choose their physical activities with their diagnosis in mind. Modifying exercise activities was significantly correlated with an increased perception of Marfan syndrome as having negative consequences on the respondents' lives. Genetic counseling should address beliefs about medication use and physical activity restrictions, as perceptions of these health behaviors may have significant impact on how adults with Marfan syndrome adhere to these recommendations and cope with their condition.     

Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]

Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the expansion of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight into the pathogenesis of HD, we generated transgenic mice that express a cDNA encoding an N-terminal fragment (171 amino acids) of huntingtin with 82, 44 or 18 glutamines. Mice expressing relatively low steady-state levels of N171 huntingtin with 82 glutamine repeats (N171-82Q) develop behavioral abnormalities, including loss of coordination, tremors, hypokinesis and abnormal gait, before dying prematurely. In mice exhibiting these abnormalities, diffuse nuclear labeling, intranuclear inclusions and neuritic aggregates, all immunoreactive with an antibody to the N-terminus (amino acids 1-17) of huntingtin (AP194), were found in multiple populations of neurons. None of these behavioral or pathological phenotypes were seen in mice expressing N171-18Q. These findings are consistent with the idea that N-terminal fragments of huntingtin with a repeat expansion are toxic to neurons, and that N-terminal fragments are prone to form both intranuclear inclusions and neuritic aggregates.      

Lymphocytopenia as an unfavorable prognostic factor in patients with cytomegalovirus infection after bone marrow transplantation

Sixty-three recipients of an allogeneic marrow transplant were screened for the occurrence of cytomegalovirus (CMV) infection and clinical parameters possibly predicting the development of CMV disease in a retrospective study. Blood and urine samples obtained from these patients were screened weekly after bone marrow transplantation (BMT) for the presence of CMV by polymerase chain reaction (PCR) and virus culture technique. Forty-six of the 63 patients studied were found to be CMV-positive by PCR technique in blood and urine samples at a median of 29 days after BMT. In 33 of these 46 patients, CMV could be cultured from urine samples and 16 of the 46 had culture-positive viremia. Twenty-eight of these 46 PCR-positive patients developed CMV disease. Whereas PCR assays showed an optimal negative predictive value and sensitivity for the development of CMV disease, their positive predictive value was 61% and could not be remarkably increased when culture-proven viruria (64%) and viremia (69%) were considered. Acute graft-versus-host disease (GVHD) grade 2 to 4 (P < .05), but not underlying disease, conditioning therapy, or GVHD prophylaxis, was associated with CMV infection. On day +49, a remarkable decrease (P < .001) in the lymphocyte count, as well as in the absolute number of CD4+, CD8+, and CD56+ lymphocytes, occurred only among the patients who later developed CMV disease. The decrease of all of these cell counts, but predominantly the CD4+ T cells, to less than 100/microL on day +49 after BMT showed a very high positive predictive value (100%) for the development of CMV disease in patients with PCR-proven viremia. Persisting CD4 lymphopenia after antiviral therapy was only observed in patients who finally died of CMV disease. Thus, immunophenotyping of the patients after BMT in addition to a highly sensitive virus detection assay might help to identify patients at high risk to develop CMV disease and indicate the need for additional adoptive immunotherapy.     

Normal perivascular spaces mimicking lacunar infarction: MR imaging

Perivascular (Virchow-Robin) spaces normally surround perforating arteries that enter the medial temporal lobes, corpus striatum, and thalamus. The high soft-tissue sensitivity of magnetic resonance (MR) imaging allows for the frequent detection of such cerebrospinal fluid (CSF)-filled spaces. Especially on axial images, these CSF-filled perivascular spaces may be confused with pathologic lesions, such a lacunar infarcts. Postmortem brain specimens demonstrate the anatomy of perivascular spaces around perforating arteries. Orthogonal images in the living patient help confirm this anatomic relationship. The characteristic CSF signal patterns from these foci are further evidence of their anatomic identification and true benign nature.     

The illusive phantom: Does primary care meet patient need following limb loss?

Purpose: Anecdotal evidence suggests that General Practitioners (GPs) vary in their understanding of phantom pain and associated factors in amputees. This has implications in that the GP's conception of the problem will determine what treatment or referral is offered.

Method: The present study aimed to explore GP's knowledge and understanding of phantom limb pain using a postal questionnaire. A sample of 129 GPs responded resulting in a response rate of 38%.

Results: The results suggest that GPs underestimate the prevalence, intensity and duration of phantom and residual limb pain. Moreover, inconsistencies in the reasons given for referral to specialist services for the management of phantom pain were reported.

Conclusion: These findings have serious implications for the management of phantom limb pain, disability and psychological distress in amputees in that GPs not only provide first line treatment, but are also the gatekeepers for referral to other services. Given this, the role of other professionals within the primary health care team may prove an additional resource for providing both support and accurate information to amputees in the community.