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Biomedical subjects

B Arthur

Publications and source records attributed to B Arthur.

18 recordsLinked to original sources
PubMed2006

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. We previously reported that HGPPS patients from consanguineous pedigrees harbour homozygous mutations in the axon guidance molecule ROBO3. METHODS: We now report two sporadic HGPPS children of non-consanguineous parents who harbour compound heterozygous mutations in ROBO3. The mother of one of the children also had scoliosis DNA was extracted from a blood sample from each participant using a standard protocol, and the coding exons of ROBO3 were amplified and sequenced as previously described. RESULTS: Each patient harboured two unique heterozygous mutations in ROBO3, having inherited one mutation from each parent. CONCLUSIONS: HGPPS can result from compound heterozygous mutations. More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population.

Child↗
PubMed1997

Acute human trial of the floating mass transducer.

Five patients underwent acute implantation of the Floating Mass Transducer (FMT) to evaluate the ability of the FMT to produce measurable auditory thresholds when temporarily placed in the middle ears of patients undergoing routine stapedotomy procedures. The FMT was placed on the long process of the incus in an inferior position, as is planned for clinical application, and in two additional positions. The ability of the FMT to produce measurable auditory thresholds was demonstrated in all patients. Results were affected by the lack of a healing period, the presence of a fixed stapes and an open middle ear space, and patient sedation.

Audiometry↗
PubMed1996

Endogenously inhibited protein kinase C in transgenic Drosophila embryonic neuroblasts down regulates the outgrowth of type I and II processes of cultured mature neurons.

Embryonic neurons were cultured from transgenic Drosophila melanogaster expressing a highly specific pseudosubstrate inhibitor of protein kinase C (PKC). Flies homozygous for this transgene, which is under the control of the yeast UAS promoter, were crossed to flies homozygous for the yeast heat shock inducible transcription factor GAL 4. Following heat shock, the progeny express the pseudosubstrate inhibitor at high levels. This strategy, which has the advantage of avoiding the non-specific effects of drugs, was used to study the role of PKC in process growth of cultured, differentiating neuroblasts. An external gold particle labeling procedure using a cell surface antigen expressed by mature neurons and processes was used to visualize neuronal processes directly in the scanning electron microscope. We observed that cell cultures expressing a low concentration of the pseudosubstrate inhibitor showed a significant decrease in the number of type I and II processes as compared to control cultures, while the proportions of neuroblasts, ganglion mother cells (GMCs), and mature neurons in the clusters were little affected.

Amino Acid Sequence↗
PubMed1994

Excessive physical activity in dieting disorder patients: proposals for a supervised exercise program.

A relationship between starvation and hyperactivity has been observed in animal models, in experiments with human subjects, and in dieting disorder patients. Since the earliest descriptions of anorexia nervosa, excessive physical activity has figured prominently as a symptom of the illness, yet little attention has been directed towards this phenomenon. The aims of this paper are to review the published literature, to report our experience of the role of physical overactivity in the clinical presentation of dieting disorders, to discuss its implications for treatment, and to propose a supervised exercise program by which overactivity may be addressed specifically in the treatment of these patients.

Adolescent↗
PubMed1994

Protein repletion and treatment in anorexia nervosa.

Body fat and total body nitrogen (TBN) were quantified before and after refeeding in 32 female anorexia nervosa patients and in 29 matched control subjects by using the techniques of anthropometry and in vivo neutron-capture analysis (IVNCA). Mean body weight of patients (mean body mass index; BMI, in kg/m2), 15.4 +/- 1.3, was 72.7% of that of control subjects, increasing to 89.8% of mean weight of control subjects after refeeding (mean BMI 19.0 +/- 1.2). Mean BMI of control subjects was 21.6 +/- 2.7. Compared with the control group, patients' nitrogen was initially depleted by 24.5%, increased by 18.4%, but remained 10.6% below control values (P < 0.001). Body fat was depleted by 58.4%, increased by 89.7%, but remained 21.8% below control values (P < 0.001). Thus, despite a greater initial depletion and subsequently a greater net gain, body fat remained relatively more depleted after treatment than did nitrogen and protein. Anorexia nervosa patients were shown to readily replenish protein during nutritional rehabilitation.

Adolescent↗
PubMed1992

Cross-cultural attitudes toward speech disorders.

Speech-language pathologists serving multicultural populations may encounter unfamiliar beliefs about speech disorders among the members of different cultures. This study used a questionnaire to look at attitudes toward four disorders (cleft palate, dysfluency, hearing impairment, and misarticulations) among 166 university students representing English-speaking North American culture and several other cultures (e.g., Chinese, Southeast Asian, Hispanic). The results showed significant group differences on items involving the subjects' beliefs about the emotional health of persons with speech disorders and about the potential ability of speech-disordered persons to change their own speech.

Adolescent↗
PubMedDate not supplied

Attitudes toward speech disorders: sampling the views of Cantonese-speaking Americans.

Speech-language pathologists who serve clients from cultural backgrounds that are not familiar to them may encounter culturally influenced attitudinal differences. A questionnaire with statements about 4 speech disorders (dysfluency, cleft pallet, speech of the deaf, and misarticulations) was given to a focus group of Chinese Americans and a comparison group of non-Chinese Americans. The focus group was much more likely to believe that persons with speech disorders could improve their own speech by "trying hard," was somewhat more likely to say that people who use deaf speech and people with cleft palates might be "emotionally disturbed," and generally more likely to view deaf speech as a limitation. The comparison group was more pessimistic about stuttering children's acceptance by their peers than was the focus group. The two subject groups agreed about other items, such as the likelihood that older children with articulation problems are "less intelligent" than their peers.

Adolescent↗