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Biomedical subjects

R H Rischbieth

Publications and source records attributed to R H Rischbieth.

At least 19 recordsLinked to original sources
PubMed1991

Familial spastic paraplegia: an electrophysiological study of central sensory conduction pathways.

An electrophysiological assessment has been performed studying somatosensory, visual and auditory pathways in clinically affected and unaffected members from 4 pedigrees with the autosomal form of 'pure' familial spastic paraplegia (n = 32). In some members from 2 families, testing of all 3 sensory pathways showed abnormal results, even in those clinically unaffected. In another family, some had abnormal somatosensory and visual pathways, with no involvement of the auditory pathway. In a further family, the somatosensory and brainstem auditory pathways were abnormal, with sparing of the visual pathway. These findings indicate that the neuronal degeneration in familial spastic paraplegia extends beyond the spinal cord and involves the visual and auditory pathways. The differences between families, and the asymptomatic abnormalities in clinically unaffected members, suggest diversity in the expression of the genetic defect.

Evoked Potentials, Auditory, Brain Stem↗
PubMed1986

Hyperammonaemia and hepatotoxicity during chronic valproate therapy: enhancement by combination with other antiepileptic drugs.

Erythrocyte (ENH3) and plasma (PNH3) ammonia levels, liver function tests and plasma valproate concentration were measured in 81 epileptic patients, comprising three therapeutic groups: Group 1 (23 patients) received sodium valproate (VPA) monotherapy, group 2 (33 patients) received sodium valproate combined with phenytoin, carbamazepine, phenobarbitone and/or primidone and group 3 (25 patients) received one or more of these anti-epileptic drugs without sodium valproate. The mean ENH3 and PNH3 of patients in group 1 (41.1 +/- 30.7 mumol l-1 and 37.1 +/- 31.8 mumol l-1, respectively) and group 2 (44.5 +/- 21.3 and 37.6 +/- 21.4 mumol l-1, respectively) were significantly (P less than 0.01) higher than those in group 3 (28.7 +/- 10.6 and 21.5 +/- 7.8 mumol l-1, respectively) and the reference range (30.1 +/- 7.9 and 20.8 +/- 5.7 mumol l-1, respectively). Hyperammonaemia was more prevalent amongst patients in group 2, for both ENH3 (45.5%) and PNH3 (54.6%), than amongst patients in group 1 (30.4% and 52.2%, respectively) and group 3 (8% and 8%, respectively). There was a significant (P less than 0.05) positive correlation between plasma VPA and total bilirubin concentrations. Chronic VPA therapy was also associated with an increase in bilirubin concentrations measured on average four months apart.

Adolescent↗
PubMed1986

Genito-femoral neuropathy.

A 14 year old female, who had undergone a sudden growth spurt, developed symptoms of a left-sided genito-femoral neuropathy, made worse by wearing tight elastic-adorned garments.

Adolescent↗
PubMed1983

The hypereosinophilic syndrome.

The hypereosinophilic syndrome groups together patients with idiopathic eosinophilia and diffuse organ infiltration with eosinophils. It appears to be a continuum of disease from the asymptomatic patient with skin and heart disease at one end to eosinophilic leukaemia at the other. A case is described of a young woman who presented with asthma, mononeuropathy multiplex and eosinophilia and subsequently developed eosinophilic gastroenteritis, vasculitis and probable myocarditis. The response to prednisolone has been pleasing.

Adult↗
PubMed1983

Hypopituitarism with arachnoid cyst.

Arachnoid cysts, most characteristically situated in the middle cranial fossa, have been described at other situations, in the posterior fossa and in the interpeduncular region. A case of primary amenorrhoea, obesity, with short stature, proved to be associated with a huge arachnoid cyst involving the L. middle and anterior cranial fossae; and pituitary fossa, producing panhypopituitarism with right faciobrachial paresis, normal visual fields and visual acuity. No evidence of progress of the lesion has been found after 3 years of observation, and further conservative management with regular CT scanning and oestrogen replacements is proposed.

Adolescent↗
PubMed1981

Hypokalaemic periodic paralysis unresponsive to acetazolamide.

The cases of a 14-year-old farm labourer is presented as a further example of nonacetazolamide responsive hypokalaemic periodic paralysis. The family history was negative, the clinical picture classical, with prompt reversal of symptoms after the use of potassium salts. However, the administration of acetazolamide led to precipitation of an attack within a few days. The use of triamterene 100mg daily resulted in complete cessation of the attacks for the last 12 months with the maintenance of normal serum potassium levels without the use of supplementary potassium.

Acetazolamide↗
PubMed1980

Individualized patient assessment in the treatment of epilepsy with sodium valproate.

This study records a comprehensive clinical protocol developed to assess seizure control and unwanted effects in 19 patients treated with sodium valproate (VPA). The assessment is based on six parameters individually ranked: seizure frequency, seizure duration, EEG comparisons, intellectual and cognitive function tests, sociological profile, and unwanted effects. Each parameter was ranked from one to five, and the mean was used to assess the overall patient state. Using this technique, this study assesses the therapeutic efficacy of VPA and the benefits of individualization of therapy as predicted by the use of pharmacokinetic parameters in a controlled trial.

Adolescent↗
PubMed1979

The support of the long term neurological cripple.

The term 'long term neurological cripple' is an unattractive and yet an all embracing one, covering a wide spectrum of disorders from spina bifida or cerebral palsy with or without associated epilepsy and behavioural and learning problems, through muscular dystrophy, multiple sclerosis, and motor neurone disease, to the effects of head injury, cerebrovascular lesions and the degenerative disorders of later life such as Parkinson's disease and the senile and presenile dementias. Whilst many of the problems are common to several of these entities, each has its own particular aspects.

Adolescent↗
PubMed1979

Troxidone (trimethadione) embryopathy: case report with reveiw of the literature.

It has long been known or suspected that phenytoin and probably phenobarbitone prescribed in pregnancy may lead to fetal malformations. The use of troxidone for epileptic women during pregnancy was reported in 1970 to lead to malformations. Over 50 instances of pregnancy in women taking troxidone have since been reported. In 8 of these the drug was used alone. 13 pregnancies resulted in abortion and 33 of the 40 survivors had a minor congenital anomaly, leading to death in 14. Complex congenital heart lesions with patent ductus, septal defects and aortic hypoplasia were apparent in half the survivors. Malformed or low-set ears were seen in nearly half the cases, palatal deformities were less common and evidence intrauterine growth retardation was frequently present. A 29-year-old mother taking troxidon and carbamazepine, and with a history of hypertension and proteinuria dating back to adolescence, delivered her first child prematurely. The child was small, showed deformed ears, displayed feeding problems and was found to be in cardiac failure with a systolic murmur and absent femoral pulses. Postnatal growth was retarded and after further cyanotic attacks a cardiac catheter study was performed. This showed a hypoplastic aortic arch with an anomolous origin of the left subclavian artery and patent ductus arteriosus, findings similar to those previously reported in neonates following maternal use of troxidone.

Abnormalities, Drug-Induced↗
PubMed1979

Lipoma of the cauda equina: case report and review of the literature.

Lipoma of the cauda equina is an uncommon condition, accounting for some 1% of spinal tumours. The literature is reviewed and the case is reported of a 41-year-old diabetic woman, who was seen in 1968 with a 37-year history of left foot deformity followed by left leg weakness and sensory loss resulting in a left below-knee amputation, with subsequent development of osteomyelitis and a chronic sinus, and of urinary incontinence and sensory loss in the right foot. A complete spinal block was evident below L3. Biopsy and limited removal of a portion of a lipoma of the cauda equina associated with considerable arachnoiditis was performed in 1967 and resulted in the disappearance of chronic back pain and cessation of faecal incontinence. There was partial restoration of bladder function and of perianal and left thigh sensation. This led to the patient being able to resume her household duties, and to visit friends and social functions after having been deprived of these pleasures for many years. Her condition has been well maintained since.

Cauda Equina↗
PubMed1978

Posterior fossa arachnoid cysts: two case reports.

2 cases of posterior fossa arachnoid cyst are discussed. In the first, it is likely that perinatal factors were responsible for the temporal lobe pathology and the formation of the cyst. Progressive dilatation of the temporal horn may have then been caused by obstruction from the cyst. In the second case, minor head trauma was a possible mechanism for the cyst production, although it seemed irrelevant to the mode of clinical presentation.

Adolescent↗