Revised Genetic Classification of Limb Girdle Muscular Dystrophies.

Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited progressive muscle disorders affecting predominantly the shoulder and pelvic girdle muscles. They present both with autosomal dominant and autosomal recessive patterns of inheritance. Recent development, including results from Next Generation Sequencing technology, expanded the number of recognised forms. Therefore a revised genetic classification that takes into account the novel entities is needed, allowing clinicians and researchers to refer to a common nomenclature for diagnostic and research purposes.

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. Here we describe the clinical, histopathological, muscle magnetic resonance imaging (MRI) and genetic findings of three Italian SEPN1-RM families. Proband 1 is a 31-year-old female who was floppy at birth and developed axial and mild lower limb-girdle weakness. The second proband is a 13-year-old boy with RSMD1. Probands 3 and 4 were brothers showing clinical phenotype of congenital myopathy. Muscle MRI demonstrated selective involvement of sartorius, gluteal muscles and distal gastrocnemius and sparing of rectus femoris and gracilis. Muscle histopathology showed in proband 1 myopathic changes with mild connective tissue increase and some fibres lacking the Z-line, while probands 2 and 3 had multiminicores. SEPN1 gene analysis revealed five mutations, three of which are novel. Proband 1 was a compound heterozygote for a 92-bp (exon 1) and a 1-bp deletion (exon 9); proband 2 had a 99-bp deletion and a 10-bp duplication in exon 1, and proband 3 presented a novel homozygous mutation in intron 10 acceptor splice site.

Cidofovir added to HAART improves virological and clinical outcome in AIDS-associated progressive multifocal leukoencephalopathy.

OBJECTIVES: To analyse the virological and clinical efficacy of cidofovir combined with highly active antiretroviral therapy (HAART) in AIDS-related progressive multifocal leukoencephalopathy (PML). DESIGN: Multicentre observational study of consecutive HIV-positive patients with histologically or virologically-proven PML. Group A, 26 patients treated with HAART; group B, 14 patients treated with HAART plus cidofovir 5 mg/kg intravenously per week for the first 2 weeks and alternate weeks thereafter. JC virus DNA was quantified in cerebrospinal fluid (CSF) by PCR. RESULTS: Baseline virological, immunological and clinical characteristics were homogeneous between the groups. In one case cidofovir was discontinued because of severe proteinuria. There was no significant difference in HIV RNA responses and changes in the number of CD4 cells between group A and B. After 2 months of therapy, five out of 12 (42%) patients from group A and seven out of eight (87%) from group B reached undetectable JC virus DNA in the CSF (Chi-square P = 0.04); moreover, 24% of group A and 57% of group B patients showed neurological improvement or stability (P = 0.038). One-year cumulative probability of survival was 0.67 with cidofovir and 0.31 without (log-rank test, P = 0.01). Variables independently associated with longer survival were the use of cidofovir, HAART prior to the onset of PML, a baseline JC virus DNA load in CSF < 4.7 log10 copies/ml, and a baseline Karnofsky performance status > or = 60. CONCLUSIONS: In AIDS-related PML, cidofovir added to HAART is associated with a more effective control of JCV replication, with improved neurological outcome and survival compared with HAART alone.

Discontinuation of primary prophylaxis for Pneumocystis carinii pneumonia and toxoplasmic encephalitis in human immunodeficiency virus type I-infected patients: the changes in opportunistic prophylaxis study.

A multicenter open, randomized, controlled trial was conducted to determine whether primary prophylaxis for Pneumocystis carinii pneumonia and toxoplasmic encephalitis can be discontinued in patients infected with human immunodeficiency virus type 1 (HIV-1) whose CD4+ T cell counts have increased to >200 cells/mm3 (and who have remained at this level for at least 3 months) as a result of highly active antiretroviral therapy (HAART). Patients were randomized to either the discontinuation arm (i.e., those who discontinued prophylaxis; n=355) or to the continuation arm (n=353); the 2 arms of the study were similar in terms of demographic, clinical, and immunovirologic characteristics. During the median follow-ups of 6.4 months (discontinuation arm) and 6.1 months (continuation arm) and with a total of 419 patient-years, no patient developed P. carinii pneumonia or toxoplasmic encephalitis. The results of this study strongly indicate that primary prophylaxis for P. carinii pneumonia and toxoplasmic encephalitis can be safely discontinued in patients whose CD4+ T cell counts increase to >200 cells/mm3 during HAART.

Collaborative research among clinical nurse specialists and staff nurses.

BACKGROUND: Conducting research in clinical settings can be problematic for many nurses in practice due to lack of experience and support. METHOD: Research collaboration between clinical nurse specialists and staff nurses in clinical settings can promote development of their research process skills. RESULTS: Strategies identified can be applied by clinical nurse specialists involved in continuing education and staff development in clinical practice through further research development. CONCLUSION: Collaboration among clinical nurse specialists and staff nurses provides a unique and strong link that transcends degrees and roles to make substantial contributions to professional nursing practice.

Development and implementation of nursing consultation groups on a spinal cord injury unit.

Stress, time constraints, patient satisfaction, need for support, and cost containment became the impetus for a nursing consultation group on a spinal cord injury (SCI) unit. This unit is located in part of a center for rehabilitation in a large, tertiary care medical center. Staff on this unit care for a maximum of 20 spinal cord injured individuals and their families. This article describes how the clinical nurse specialist (CNS) identified the need for such a group as well as the benefits, membership, structure, and types of nursing issues addressed. Pitfalls and how to avoid them are identified for those interested in developing similar consultation groups.

A model for professional rehabilitation nursing practice.

As partners in health care, clinical and administrative nurses must share in the work, risks, and rewards inherent in nursing practice while promoting high-quality results in a cost-conscious and cost-effective environment. One way to achieve these results is by developing a nontraditional rehabilitation structure and nursing practice model. This article discusses practical strategies for constructing and implementing such a model; it also identifies tangible outcomes of using the model. The healthcare environment in the 1990s demands a high level of involvement on the part of staff; the rehabilitation nursing model presented in this article meets this challenge.

Competency-based nursing in a rehabilitation setting.

The success of achieving a competency-based rehabilitation nursing practice is shared in this article. An education day provided a comprehensive approach to ensure that practicing staff nurses stay abreast of the knowledge and skills necessary to provide quality patient care. This article details the decision-making process, competency development, strategies, and evaluation of the competency program. Formal documentation of competency testing is an asset for follow-up and accreditation review.

Critical care elements in a rehabilitation nursing course.

This article describes a specialized rehabilitation education program, based on adult learning theory, that was developed to promote retention of rehabilitation nurses at MetroHealth Center for Rehabilitation in Cleveland. The curriculum encompasses the skills required to care for rehabilitation patients needing both advanced rehabilitation nursing and critical care nursing. Critical care and rehabilitation nurses collaborated in the presentation of topics and were guided by the course coordinators. Learners were chosen based on experience in rehabilitation, with priority given to those certified in rehabilitation nursing. A variety of evaluation methods elicited positive responses. A 6-month postcourse survey also was completed to assess the long-term effects of the course.