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W Whitehouse

Publications and source records attributed to W Whitehouse.

12 recordsLinked to original sources
PubMed1994

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

Recent studies show that patients presenting with cytochrome oxidase (COX) deficiency in infancy may have reduced mitochondrial DNA (mtDNA) in muscle. The human mitochondrial transcription factor A (h-mtTFA) may be an important regulator of both transcription and replication of mtDNA. h-mtTFA levels were investigated in cell lines which were either free of mtDNA (rho 0) or temporarily depleted by treatment with dideoxycytidine (ddC), and in tissue from three patients with mtDNA depletion and cytochrome oxidase deficiency. h-mtTFA was compared with other mitochondrial proteins such as pyruvate dehydrogenase and porin by Western blotting. The ratio of mtDNA and h-mtTFA mRNA to reference nuclear probes was measured by dual labelling of dot blots. The ratio of mtDNA to nuclear DNA in skeletal muscle was low in muscle in the three patients and in other tissues in one. h-mtTFA was low in cells depleted either permanently or transiently of mtDNA, and this reduction in h-mtTFA roughly paralleled mtDNA levels. Similarly, treatment of rho 0 cell lines with ddC induced a reduction in mtDNA as well as h-mtTFA protein. The relationship between h-mtTFA and mtDNA levels suggests that they may be causally linked. MtDNA depletion was accompanied by an increase in the level of h-mtTFA RNA in the cell lines but low levels in the patient. This suggests that either h-mtTFA regulates mtDNA levels, or that h-mtTFA expression may be regulated by a feedback mechanism initiated by MtDNA Depletion.

Base Sequence↗
PubMed1993

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.

Benign partial epilepsy with centrotemporal sharp waves (benign rolandic epilepsy, BRE) is a common form of idiopathic, localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as an autosomal dominant trait in families with probands with BRE and acts as a neurobiological marker for the increased risk of developing BRE, other benign partial epilepsies of childhood, and other developmental disorders in these families. One of the genes for idiopathic generalised epilepsy (IGE), designated EJM1, has been mapped in families with probands with juvenile myoclonic epilepsy, by linkage to the HLA region on chromosome 6. As BRE and IGE are benign, idiopathic, age-dependent epilepsies, EJM1 is a candidate locus for the fsw underlying BRE and related disorders. Genetic linkage analysis was undertaken in 11 families with probands with BRE and one or more first degree relatives with fsw, with or without BRE, using a polymorphic DNA marker within the HLA region. Apparently unaffected individuals were classed as affection status unknown. Assuming autosomal dominant inheritance with a penetrance of 0.9 gave a lod score of -2.3 at zero recombination, excluding the candidate gene region around HLA. These observations exclude an important candidate gene for this common disorder, and suggest a fundamental molecular and genetic distinction between the benign partial epilepsies of childhood and the idiopathic generalised epilepsies.

Adolescent↗
PubMed1993

Cycle helmets.

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Adolescent↗
PubMed1980

Early fetal movement: a real-time ultrasound study.

A single-transducer mechanical sector scanner was used to examine the first-trimester fetus. Fifty-six examinations of 31 patients demonstrated an orderly developmental progression of fetal activity beginning with beating of the fetal heart (7 weeks), progressing to fetal trunk movement (8 weeks), and culminating in individual fetal limb movement (9 weeks). The mechanical sector real-time scanner is capable of providing a high-resolution image of the first-trimester fetus and the earliest fetal movements.

Female↗
PubMedDate not supplied

Child psychiatry and the paediatrician in training.

The author draws on his own experience to support the view that some practical experience and training in child psychiatry is an effective way for the paediatrician in training to gain understanding of that specialty. It is also an efficient way to acquire certain perspectives and skills which will be helpful in the future, either in hospital or community paediatrics.

Child Psychiatry↗