Biomedical subjects

V Fabian

Publications and source records attributed to V Fabian.

10 recordsLinked to original sources

PubMed2006

Early progressive encephalopathy in boys and MECP2 mutations.

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

Cerebral Cortex↗

PubMed2005

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

BACKGROUND: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture of MPD1 is distinct from these three conditions. OBJECTIVE: To collate and discuss the histological features reported in the muscle biopsies of MPD1 patients and to outline the clinical features. RESULTS: The phenotype of MPD1 was consistent, with initial weakness of great toe/ankle dorsiflexion, and later development of weakness of finger extension and neck flexion. Age of onset was the only variable, being from birth up to the 20 s, but progression was always very slow. The pathological features were variable. In this retrospective series, there were no pathognomonic diagnostic features, although atrophic type I fibres were found in half the families. Rimmed vacuoles are consistently seen in all other distal myopathies with the exception of Myoshi distal myopathy. However, they were found in a minority of patients with MPD1, and were not prominent when present. Immunohistochemical staining for slow and fast myosin showed co-expression of slow and fast myosin in some type I fibres, possibly indicating a switch to type II status. This may be a useful aid to diagnosis. CONCLUSIONS: The pathological findings in MPD1 are variable and appear to be affected by factors such as the specific muscle biopsied, the age of the patient at biopsy, and the duration of disease manifestations.

Adolescent↗

PubMed2004

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

Three infants are described who had nemaline rods on muscle biopsy and isolated deficiency of complex I of the respiratory chain on biochemical analysis. They all manifested failure to thrive from birth, and hypotonia and muscle weakness within the first three months of life. Different genetic defects leading to isolated complex I deficiency have been described associated with a variety of morphological changes on muscle biopsy, but rods have not been described. Nemaline rods have been secondary phenomena in a number of conditions, as well as being the primary abnormality in nemaline myopathy. However, the combination of nemaline rods and complex I deficiency is an association not previously reported.

Electron Transport Complex I↗

PubMed2002

Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria.

The aim of this study was to assess the variation between neuropathologists in the diagnosis of common dementia syndromes when multiple published protocols are applied. Fourteen out of 18 Australian neuropathologists participated in diagnosing 20 cases (16 cases of dementia, 4 age-matched controls) using consensus diagnostic methods. Diagnostic criteria, clinical synopses and slides from multiple brain regions were sent to participants who were asked for case diagnoses. Diagnostic sensitivity, specificity, predictive value, accuracy and variability were determined using percentage agreement and kappa statistics. Using CERAD criteria, there was a high inter-rater agreement for cases with probable and definite Alzheimer's disease but low agreement for cases with possible Alzheimer's disease. Braak staging and the application of criteria for dementia with Lewy bodies also resulted in high inter-rater agreement. There was poor agreement for the diagnosis of frontotemporal dementia and for identifying small vessel disease. Participants rarely diagnosed more than one disease in any case. To improve efficiency when applying multiple diagnostic criteria, several simplifications were proposed and tested on 5 of the original 20 cases. Inter-rater reliability for the diagnosis of Alzheimer's disease and dementia with Lewy bodies significantly improved. Further development of simple and accurate methods to identify small vessel lesions and diagnose frontotemporal dementia is warranted.

Alzheimer Disease↗

PubMed2002

Effect of Vitamin C and E supplementation on biochemical and ultrastructural indices of muscle damage after a 21 km run.

This study investigated whether 4 weeks of daily supplementation with 500 or 1000 mg of Vitamin C and 500 or 1000 IU of Vitamin E could modify biochemical and ultrastructural indices of muscle damage following a 21 km run. Fifteen experienced male distance runners were divided into two groups (vitamin or placebo) and received supplementation for four weeks before completing the first 21 km run in as fast a time as possible. A four-week "washout" period followed before the subjects crossed over and received the alternate supplement for the next four weeks. They then completed a second 21 km run. Before, immediately after and 24 h after each run venous blood samples were taken and analysed for serum creatine kinase, myoglobin, malondialdehyde and vitamin C and E (before-samples only) concentrations. A subgroup of six subjects also had muscle biopsy (gastrocnemius) samples taken 24 h before and 24 h after each 21 km run, which were later analysed by electron microscopy. The two dosages of supplementation produced similar results, so a single vitamin group was formed for further analysis of results. Significant increases (p < 0.05) in creatine kinase and myoglobin, but not in malondialdehyde, were found post-run in both groups. However, no significant differences were found between the vitamin and placebo groups for creatine kinase, myoglobin and malondialdehyde concentrations recorded after the 21 km runs. A qualitative ultrastructural examination of pre-run muscle samples revealed changes consistent with endurance training, but little further change was seen after the 21 km run in either the vitamin or placebo groups. It was concluded that vitamin C and E supplementation (500 or 1000 mg or IU per day) for four weeks does not reduce either biochemical or ultrastructural indices of muscle damage in experienced runners after a half marathon.

Administration, Oral↗

PubMed2001

Creutzfeldt-Jakob syndrome presenting as epilepsia partialis continua.

Creutzfeldt-Jakob disease (CJD) is an uncommon rapidly progressive neurological disorder which can have protean clinical presentations. We report an autopsy-proven case of CJD presenting initially as epilepsia partialis continua but then developing the typical clinical features of CJD over several weeks. CJD should be considered in the differential diagnosis of new onset epilepsia partialis continua in adults.

Aged↗

PubMed1999

Butyrycholinesterase K variant and Alzheimer's disease.

This study attempted to corroborate findings on the association between butyrylcholinesterase K variant and Alzheimer's disease. This was performed on an autopsy-confirmed series of patients with Alzheimer's disease and controls. The butyrylcholinesterase K variant was found to be of increased allele frequency in patients with sporadic Alzheimer's disease. When related to APOE epsilon4 typing the association was specific but not sensitive for the diagnosis of Alzheimer's disease.

Aged↗

PubMed1998

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diffuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only one of her two clinically affected offspring, indicating that it is not the mutation causing disease in this family.

Abnormalities, Multiple↗

PubMed1997

Biochemical and ultrastructural indices of muscle damage after a twenty-one kilometre run.

Increased serum concentrations of intracellular proteins are generally accepted as good indicators of muscle damage. The mechanism of this damage is, however, poorly understood. Twenty male runners completed a 21 km run in as fast a time as possible. Blood samples were obtained from each subject just prior to, immediately after, and 24 hr after the run. Samples were analysed for haemoglobin, haematocrit, creatine kinase (CK), myoglobin (Mb) and malondialdehyde (MDA) concentrations and corrected for percentage change in plasma volume (PV). Percutaneous muscle biopsies were taken from the lateral gastrocnemius muscle of 6 of the subjects 24 hr before and 24 hr after the run and examined by electron microscopy. Mb levels in the serum increased significantly (p < 0.001) immediately post-exercise, while CK levels increased significantly (p < 0.001) at 24 hours post-exercise. The PV corrected serum MDA levels were very close (p = 0.06) to a significant increase immediately post-exercise. Ultrastructural examination of pre-exercise samples revealed evidence of muscle changes consistent with endurance exercise training, but no further damage was evident at 24 hr post-exercise. It is thus suggested that the increased serum levels of CK and Mb after the 21 km run may be a result of free radical induced cell membrane damage and increased permeability, as evidenced by elevated serum MDA levels, and not due to mechanical muscle damage.

Adult↗

PubMed1996

Primary cardiac lymphoma.

A case of primary cardiac non-Hodgkin's B cell lymphoma is described in a patient presenting with obstructive right heart failure. Unlike the majority of cases, in this case the tumor was diagnosed ante mortem. THe patient's history combined with the aggressive use of noninvasive echocardiography are helpful in diagnosing this rare lesion.

Cardiac Output, Low↗