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Biomedical subjects

B Mendel

Publications and source records attributed to B Mendel.

11 recordsLinked to original sources
PubMed2002

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

We describe an atypical case of nemaline myopathy with an unusual distribution of muscle weakness who presented at 14 years of age with kyphoscoliosis. In this patient, we demonstrate heterozygosity for a de novo CGT-CAT (Arg167His) mutation in a constitutively expressed exon (exon 5) of slow alpha-tropomyosin (TPM3). This is the first mutation identified in a constitutively expressed exon of TPM3 in a nemaline myopathy patient, but is similar to recently described mutations in beta-tropomyosin (TPM2) associated with nemaline myopathy and mutations in fast alpha-tropomyosin (TPM1) which cause hypertrophic cardiomyopathy.

Adenosine Triphosphatases↗
PubMed2001

The sense of coherence: a tool for evaluating patients with peripheral vestibular disorders.

Peripheral vestibular disorders may result in physical as well as psychosocial dysfunction. Such a situation demands a capacity to cope which lately has been discussed as an important factor in the health outcome. Antonovsky has described the concept of sense of coherence (SOC) as such a trait and has developed a questionnaire (the SOC Scale) to measure it. The aim of this study was to describe the patients' self-rated degree of SOC and to set this in relation to their perception of the self-rated quality of life. The results showed that patients with a strong SOC scored statistically less self-rated handicap, less emotional distress, less impact on working capacity and sleep and rest and less psychosocial dysfunction than those with weak SOC scores. It is suggested that the SOC Scale may serve as a tool to identify patients who are at risk of poorer quality of life and in need of supportive care.

Adaptation, Psychological↗
PubMed2001

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

Cofilins are actin binding proteins and regulate actin assembly in vivo. Numerous cofilin homologues have been characterized in various organisms including mammals. In mice, a ubiquitously expressed cofilin (CFL1) and a skeletal muscle specific cofilin (CFL2) have been described. In the present study, we identified and characterized a human CFL2 gene localized on chromosome 14, with high homology to murine CFL2. Furthermore, we provide evidence for differentially spliced CFL2 transcripts (CFL2a and CFL2b). CFL2b is expressed predominantly in human skeletal muscle and heart, while CFL2a is expressed in various tissues. Genetic defects of CFL2 were excluded for one human muscle disorder, the chromosome 14 linked distal myopathy MPD1, and shown to be only possible to be a rare cause of another, nemaline myopathy. In a mouse model of mechanically induced muscle damage the changes of cofilin expression were monitored during the first 10 days of regeneration, with dephosphorylated CFL2 being the major isoform at later stages of muscle regeneration. A similar predominance of dephosphorylated CFL2 was observed in chronically regenerating dystrophin-deficient muscles of Duchenne muscular dystrophy patients. Therefore, the CFL2 isoform may play an important role in normal muscle function and muscle regeneration.

Amino Acid Sequence↗
PubMed1999

Dizziness symptom severity and impact on daily living as perceived by patients suffering from peripheral vestibular disorder.

The purpose of this study was to describe quality-of-life aspects in a group of patients (n = 99) suffering from peripheral vestibular disorder, using three different self-rated instruments, the Vertigo Symptom Scale (VSS), the Vertigo Handicap Questionnaire (VHQ) and the Sickness Impact Profile (SIP). The results showed that the type of dizziness that most influenced the quality-of-life aspects were: frequent short- or long-term dizziness, nausea, and the feeling that the ground was distant or as though the patient were walking on clouds. However, several of the impairments in daily life were neither related to the disease itself nor the demographic data. This verifies the necessity of investigating other factors such as personality and coping capacity. The results of this study also demonstrate the patients' need of psychosocial support. A comprehensive assessment and evaluation is important in order to identify each patient's needs.

Activities of Daily Living↗
PubMed1997

Living with dizziness: an explorative study.

A qualitative study was conducted for the purpose of exploring how patients with dizziness manage their daily living. Ten patients with history of dizziness were recruited from the out-patient clinic, Department of Audiology, in a hospital in Stockholm. Collection and analysis of data were inspired by the method of grounded theory. Four themes were developed that described the experience of living with dizziness: vulnerable reactions, affirmation and non-affirmation, finding ways to carry on daily living, and expressing the need for health care support. These themes seem to conceptualize these patients' difficulties and needs in relationship to living with dizziness and, given the small sample, have implications for nursing practice and provide a framework for a broader study.

Activities of Daily Living↗
PubMedDate not supplied

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

Heart transplantation was performed in a 26-year-old man who suffered from severe dilatative cardiomyopathy. A nemaline myopathy characterized by the accumulation of Z-line material and the formation of rod-like structures had been diagnosed in the skeletal muscle. Routine light microscopy of the heart disclosed only nonspecific findings. On electron microscopy scattered cardiomyocytes showed formations of rod-like structures and a structural desintegration of contractile filaments near the intercalated disks. Immunocytochemistry at the light and electron microscopical level exhibited an accumulation of alpha-actinin, desmin, and occasionally vinculin in abnormal cardiomyocytes. The rods were specifically stained with alpha-actinin and were less immunoreactive for desmin. No mutations were revealed in the skeletal muscle alpha-actin gene. The results illustrate a complex derangement of the cytoskeletal apparatus in nemaline cardiomyopathy. Nemaline cardiomyopathy may be difficult to diagnose in routine diagnostic procedures. A close correlation between the severity of cardiac dysfunction and the morphological expression of the disease in the heart may not be found. Nemaline cardiomyopathy should be included in the differential diagnosis of dilatative cardiomyopathy and may be diagnosed with certainty by ultrastructural-immunhistochemical investigations.

Actinin↗