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Biomedical subjects

F Webb

Publications and source records attributed to F Webb.

12 recordsLinked to original sources
PubMed2001

Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening.

Of the 65 328 pregnancies of South Australian mothers screened by the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme between 1 January 1991 and 31 December 1997, 3431 (5.25%) were declared at increased risk of fetal Down syndrome. Fetal or neonatal karyotype was determined in 2737/3431 (79.8%) of these pregnancies, including 16 with early fetal loss. Interrogation of the database of the South Australian Neonatal Screening Service showed 643 live-born infants whose phenotype was not subsequently questioned among the 694 pregnancies whose karyotype was not determined. Of the remaining 51/3431 pregnancies, 19 ended in early fetal loss without karyotyping and no newborn screening or other records could be found for 32 cases. The 129 instances of abnormal karyotype found were Down syndrome (84), trisomy 18 (four), trisomy 13 (three), triploidy (two), female sex chromosome aneuploidy (six) and male sex chromosome aneuploidy (five), inherited balanced rearrangements (19), mosaic or de novo balanced abnormalities (four) and unbalanced karyotypes (two). In the pregnancies declared at increased risk of fetal Down syndrome, only the karyotype for Down syndrome occurred with a frequency greater than that expected for the general, pregnant population.

Down Syndrome↗
PubMed2001

Fungal infection of the diabetic foot: two distinct syndromes.

AIMS: Fungal infection of diabetic foot ulcers has not been described. We analysed the features of 17 patients with diabetic foot ulcers probably infected with fungi. METHODS: Seventeen patients were identified with clinically infected foot ulcers, (i) which had failed to heal despite prolonged antibiotic therapy and intensive podiatric care, (ii) from which Candida spp. was isolated or hyphae +/- yeasts were visualized in material from ulcers or surrounding skin. RESULTS: Multiple ulcers arising simultaneously were present in 10 patients (59%), preceded by blistering in seven cases. Single ulcers with markedly ulcerated margins were present in seven (41%) patients and were preceded by blisters in two. All 17 cases had neuropathy and 15 (88%) had severe peripheral vascular disease. All ulcers responded to antifungal therapy. CONCLUSIONS: Candida spp. is associated with two distinctive patterns of protracted ulceration in diabetic feet which improve following systemic antifungal therapy. Diabet. Med. 18, 567-572 (2001)

Adult↗
PubMed2001

Foot problems in patients with systemic sclerosis.

OBJECTIVES: To assess the nature of the foot problems experienced in patients with systemic sclerosis (SSc) and patient awareness of such problems. METHODS: Fifty unselected patients (42 females, eight males) with SSc were assessed by means of examination by a senior podiatrist, completion of a questionnaire detailing past and present foot problems, determination of random plasma glucose, plain X-rays of the feet, and measurement of the ankle/brachial index and of digital pulses by Doppler ultrasound. RESULTS: Eighty-six per cent of patients reported colour changes in their feet in response to temperature changes, 82% reported pain usually related to cold, 26% had suffered foot ulceration and 8% had a history of foot surgery. Podiatry assessment confirmed the presence of significant abnormalities, including ulcerations in 10%, pre-ulcerative lesions in 34%, toenail changes in 62%, callus formation in 80% and calcinosis in 18%. Forty per cent of the patients had problems with the fitting of shoes, and 19% had been provided with footwear from the hospital. Plain films of the feet demonstrated the presence of erosions in 6%, soft-tissue calcification in 17%, osteopenia in 26% and degenerative changes in 60% of cases. Ten per cent of the patients had an abnormal ankle brachial index (less than 1.0). Only 21% of the 47 patients in whom digital pulses were examined had normal pulses in all toes, and in 26% all toe pulses were absent. CONCLUSION: Although problems with the hands are well recognized in SSc, foot problems also occur in the majority of patients, and can be a cause of major disability. Care of the feet is therefore an important part of the management of SSC.

Adult↗
PubMed2001

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Health Facility Environment↗
PubMed2000

Developmental and behavioural outcome in obstetric brachial plexus palsy.

Forty-four children with obstetric brachial plexus palsy were assessed for both developmental attainment and behavioural problems. Analysis of the resulting data revealed developmental and behavioural problems previously not identified, particularly in those with more severe injuries. These effects were independent of the general condition of the child at birth, as indicated by their Apgar scores. Further studies are required to provide clarification of these children's difficulties, the mechanisms by which they occur and effective strategies to address them.

Brachial Plexus↗
PubMed1997

The yeast SEN1 gene is required for the processing of diverse RNA classes.

A single base change in the helicase superfamily 1 domain of the yeast Saccharomyces cerevisiae SEN1 gene results in a heat-sensitive mutation that alters the cellular abundance of many RNA species. We compared the relative amounts of RNAs between cells that are wild-type and mutant after temperature-shift. In the mutant several RNAs were found to either decrease or increase in abundance. The affected RNAs include tRNAs, rRNAs and small nuclear and nucleolar RNAs. Many of the affected RNAs have been positively identified and include end-matured precursor tRNAs and the small nuclear and nucleolar RNAs U5 and snR40 and snR45. Several small nucleolar RNAs co-immunoprecipitate with Sen1 but differentially associate with the wild-type and mutant protein. Its inactivation also impairs precursor rRNA maturation, resulting in increased accumulation of 35S and 6S precursor rRNAs and reduced levels of 20S, 23S and 27S rRNA processing intermediates. Thus, Sen1 is required for the biosynthesis of various functionally distinct classes of nuclear RNAs. We propose that Sen1 is an RNA helicase acting on a wide range of RNA classes. Its effects on the targeted RNAs in turn enable ribonuclease activity.

Antibodies↗
PubMed1996

Toe to hand transfer in children. Part 2: Functional and psychological aspects.

Forty children with congenital (85%) or acquired hand disorders underwent transfer of one or two toes to one hand. The children were reviewed with their parents and assessed for functional and psychosocial performance. There was some evidence that the older the child at the time of transfer, the better the range of motion. The passive range of motion was on average 60 degrees more than the active range of motion despite subsequent procedures such as tenolysis. All transfers recovered protective sensibility and the majority recovered good levels of two point discrimination and light touch perception. Almost all transfers were naturally incorporated into the use pattern of the limb for some or most of the time. Most parents and patients reported a very positive effect of this surgery on the child's psychosocial functioning.

Adolescent↗
PubMed1992

SEN1, a positive effector of tRNA-splicing endonuclease in Saccharomyces cerevisiae.

The SEN1 gene, which is essential for growth in the yeast Saccharomyces cerevisiae, is required for endonucleolytic cleavage of introns from all 10 families of precursor tRNAs. A mutation in SEN1 conferring temperature-sensitive lethality also causes in vivo accumulation of pre-tRNAs and a deficiency of in vitro endonuclease activity. Biochemical evidence suggests that the gene product may be one of several components of a nuclear-localized splicing complex. We have cloned the SEN1 gene and characterized the SEN1 mRNA, the SEN1 gene product, the temperature-sensitive sen1-1 mutation, and three SEN1 null alleles. The SEN1 gene corresponds to a 6,336-bp open reading frame coding for a 2,112-amino-acid protein (molecular mass, 239 kDa). Using antisera directed against the C-terminal end of SEN1, we detect a protein corresponding to the predicted molecular weight of SEN1. The SEN1 protein contains a leucine zipper motif, consensus elements for nucleoside triphosphate binding, and a potential nuclear localization signal sequence. The carboxy-terminal 1,214 amino acids of the SEN1 protein are essential for growth, whereas the amino-terminal 898 amino acids are dispensable. A sequence of approximately 500 amino acids located in the essential region of SEN1 has significant similarity to the yeast UPF1 gene product, which is involved in mRNA turnover, and the mouse Mov-10 gene product, whose function is unknown. The mutation that creates the temperature-sensitive sen1-1 allele is located within this 500-amino-acid region, and it causes a substitution for an amino acid that is conserved in all three proteins.

Alleles↗
PubMed1976

Genetic analysis of a transposable suppressor gene in Saccharomyces cerevisiae.

We have demonstrated in Saccharomyces cerevisiae the transposition of a gene coding for an efficient ochre (UAA) suppressor from a centromere-linked site on chromosome III to two new sites in the yeast genome. One site is on chromosome VI, very close to, if not allelic with, SUP11, one of eight genes coding for a tyrosine-inserting suppressor. The second site is on chromosome III, unlinked to the centromere and distal to the mating type locus. This site is very close to those mapped for the recessive lethal amber suppressors, SUP-RL1 and SUP61.

Chromosome Aberrations↗