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Biomedical subjects

J B Stephenson

Publications and source records attributed to J B Stephenson.

At least 55 records · Page 3Linked to original sources
PubMed1989

Genetic aspects of tuberous sclerosis in the west of Scotland.

Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an overall minimum prevalence of 1 in 27,000, but for children under 10 years of age the minimum prevalence was 1 in 12,000. Both parents of 84 of the ascertained cases were assessed for signs of tuberous sclerosis. In 51 pairs of parents no evidence of the condition was seen, indicating that up to 60% of the cases were new mutations. The mutation rate was estimated at 2.5 X 10(-5) mutations per gene per generation. Analysis of parental ages for the new mutations did not show a significant age effect. Thirty-five patients occurred in 13 families containing other affected subjects. The pattern of inheritance was consistent with an autosomal dominant trait in these families. In one sibship, non-penetrance or gonadal mosaicism resulted in affected sibs with normal parents. Of two further sibships where non-penetrance was suspected, one was shown to represent a single new mutation in monozygotic twins and the other to involve non-paternity.

Adult↗
PubMed1988

Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions.

We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the individual subunits showed a low concentration of all detectable subunits.

Child, Preschool↗
PubMed1988

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.

We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has in addition distinct retinal angiomas in one eye. This combination of clinical findings has not been reported previously and is probably due to an autosomal recessive gene defect. Laser photocoagulation and cryotherapy has preserved good function in one eye of each child.

Alopecia↗
PubMed1988

A low-cost method for simultaneous video-recording of ambulant subject and electroencephalograph: the Quarrier's system.

A system is described by means of which the ambulant subject may be video-filmed over several hours with the electroencephalograph superimposed on the same tape, allowing correlations to be observed in the active state. Our first subjects have been girls with Rett syndrome. Requirements are: one portable video camera/recorder, a conventional e.e.g. machine, the 'Medilog 9000' system for prolonged ambulatory recording (Oxford Medical), a specialized video mixer (videogram ForA FVG600, commercially available) a video timer, a conventional video cassette recorder and a television monitor. The cost is small for a department already equipped to carry out ordinary ambulatory e.e.g. monitoring. The method is safe, well tolerated, simple to use and adaptable. To the best of the authors' knowledge, they are the first to use this system and they believe that it should find wider application when it is desirable to correlate the behaviour of a subject with physiological parameters, on a restricted budget.

Ambulatory Care↗
PubMed1988

Spastic hemiparesis and presumed prenatal embolisation.

An infant with clinical evidence of prenatal right subclavian arterial occlusion subsequently developed left hemiparesis with cystic infarction of the territory of the right middle cerebral artery. Perinatal strokes have not been reported with signs of limb ischaemia at birth; this finding may be a warning of possible simultaneous cerebral infarction.

Female↗
PubMed1988

Hyperventilation in the awake state: potentially treatable component of Rett syndrome.

Hyperventilation, which occurs in some patients with severe mental handicap, is a prominent feature in the histories of most girls with Rett syndrome but its mechanism and effects have not been established. Respiratory function was therefore studied in 18 patients with Rett syndrome and 23 healthy controls. Ten of the patients (56%), but none of the controls, hyperventilated only when awake, and began doing so after a period of normal breathing without hypoxaemia. After hyperventilation was established it was interspersed with prolonged periods of apnoea (over 19 seconds) accompanied by Valsalva manoeuvres. Hypoxaemia (less than 90%) occurred in 47% of these periods of apnoea and five (50%) of the patients had oxygen saturation values of under 50%. During hyperventilation severe hypocapnia developed in every patient, and recorded arterial pH measurements ranged from 7.47 to 7.60. A further four patients (22%) did not hyperventilate, but had clear histories of hyperventilation when younger. All had frequent apnoeic pauses accompanied by Valsalva manoeuvres. The remaining four girls (22%) neither hyperventilated nor gave a clear history of doing so. Three had occasional apnoeic pauses associated with the Valsalva manoeuvres. All but one of the 18 patients had increased quantities of periodic apnoea compared with the control subjects. The hypocapnic alkalaemia and hypoxaemia resulting from hyperventilation may contribute to the cerebral impairment in Rett syndrome. Since the hyperventilation is 'primary', and not secondary to preceding apnoea, it is potentially treatable. Further studies will determine if treatment is practical and of benefit.

Adolescent↗
PubMed1988

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.

Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystrophy and keratoderma also had clinical or electrophysiological evidence of axonal neuropathy.

Child↗
PubMed1988

Vaccine-induced polioencephalomyelitis in Scotland.

A six-month-old British female, living in Glasgow was admitted in June 1986 with a four-day history of fever and lower limb weakness following immunisation with oral polio and triple (DTP) vaccines. Examination revealed paralysis of all limbs, facial muscles and right diaphragm, scoliosis, opsoclonus and ocular flutter. Poliovirus types 1, 2 and 3, isolated from her stool specimens were all vaccine-like strains. Her serial serum IgA levels were persistently low and salivary IgA was undetectable. This appears to be the first fully authenticated case of poliovaccine damage in Scotland. It is unclear whether the selective IgA deficiency contributed to her vulnerability. It is essential to investigate elaborately and process viral isolates in every suspected case of acute poliomyelitis so as to determine the dimension and ramifications of poliovaccine damage in the UK population which is known to be rather apprehensive about vaccine dangers.

Feces↗
PubMed1988

A neurologist looks at neurological disease temporally related to DTP immunization.

Pertussis vaccine was originally accused of provoking a short latency explosive encephalopathy with serious mental and physical consequences. Reports of recurrence of encephalopathy, worse after each dose, strengthened the notion of causality. Anecdotal associations can be no more than hypothesis-generating. With no distinctive clinical or pathological neurology, a major epidemiological study was necessary to answer the question "Does whooping cough vaccine cause brain damage in children"? The British national Childhood Encephalopathy Study (NCES) seemed to indicate that very rarely the answer was yes. Unfortunately the NCES confused disorders which might be notified as "encephalopathy" with actual brain damaging events, imaging a continuum of injury. Close scrutiny of the individual cases, as was possible during the recent test case in the High Court of London, shows that all the temporally associated cases with permanent sequelae had either viral encephalitis or Reye's syndrome. No cases were unexplained. There was an apparent excess of febrile convulsions in the first 24 hours, but all these children were normal at follow-up. The short latency explosive encephalopathy with adverse outcome predicted by the earlier case series did not occur. The NCES gives no support to the idea that pertussis vaccine damages children's brains. Contra-indications to DTP should be the same as to DT.

Bias↗
PubMed1987

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

We describe the clinical and genetic details of a series of microcephalic patients who were referred to the Genetic Counselling Service for the West of Scotland. There were 29 isolated cases of microcephaly and 9 families with recurrent microcephaly. The sib recurrence risk was 19%, which reflects the high incidence of autosomal recessive microcephaly in this series. There was evidence for several varieties of recessive microcephaly. The most frequent, affecting 5 sib pairs, was associated with spastic quadriplegia, seizures, and profound mental handicap. In 15 families with one microcephalic child, prenatal diagnosis by serial ultrasound scans was undertaken in 21 subsequent pregnancies. Four recurrences of microcephaly were detected in the third trimester and one recurrence was missed because no scans were performed after 24 wk gestation when the ultrasound measurements indicated satisfactory head growth. The main reason for late diagnosis of affected fetuses was that head growth did not slow appreciably until the last trimester. The high recurrence risk in this prospective series emphasizes the contribution of autosomal recessive inheritance of microcephaly amongst patients of our Genetic Counselling Service.

Female↗
PubMed1987

The hands, and the mind, pre- and post-regression, in Rett syndrome.

Forty girls with Rett syndrome were included in a study of behaviour, with particular regard to the hands, before, during and after regression. Data was taken from examination of each girl, and in some cases from detailed developmental histories given by parents, and films taken before, during and after regression. The important findings are shown in two tables and described. Pre-regression abnormalities included hypotonia, jerky incoordination, an excess of patting or waving activity and involuntary movements which included alternate opening and closing of the fingers and twisting of wrists or arms. Hand use did not progress beyond the ten- to twelve-month stage. Language did not develop beyond the stage of one word utterances. When well-developed, the stereotyped hand movements were simple and clumsy, consisting of tapping, rubbing and clasping, with the hand moved as a unit. Before regression hands were usually separate, during regression usually together and thereafter with increasing age inclined to separate again. Voluntary hand use was observed when girls were relaxed and strongly motivated, particularly during musical interactions. The characteristic abnormalities of behaviour in pre-regression Rett syndrome, and hand behaviour in later childhood should allow earlier and more accurate diagnosis.

Adolescent↗