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Biomedical subjects

R Marks

Publications and source records attributed to R Marks.

At least 109 records · Page 6Linked to original sources

Stature of Russian children with isolated cleft lip and palate.

OBJECTIVE: To evaluate the stature of Russian children with cleft lip and palate (CLP). DESIGN: One hundred twelve Russian children predominantly with repaired unilateral CLP 4 through 10 years of age underwent studies including height measurement, physical examinations, and record review. Children with health concerns that could affect growth were excluded. U.S. growth data from the National Center for Health Statistics (NCHS) and Russian parental heights were used in the absence of Russian growth norms. RESULTS: Based on U.S. norms, the distribution curve for heights for the Russian children was largely confined to the +1 to -1 standard deviation (SD) range. Sixty-two percent of the Russian children had heights below the 50th percentile for American female and male children of the same age. The proportion of children found outside the +1 to -1 SD range approximated the proportion expected statistically for the general population, with 14.4% < -1 SD (16th percentile) and 12% > +1 SD (84th percentile). A total of 3.6% of the children ranked below the third percentile, which is close to the expected 3%. Russian parents' (n = 209) mean heights were 0.5 SD below NCHS's 50th percentile values for adults. CONCLUSION: These results indicate that there is no increased risk of true short stature in 4- to 10-year-old Russian children with repaired CLP.

Adolescent↗

Choice of long-term strategy for the management of patients with severe esophagitis: a cost-utility analysis.

BACKGROUND & AIMS: Omeprazole has shown remarkable efficacy and safety in the treatment of patients with gastroesophageal reflux disease (GERD); similarly, laparoscopic techniques have allowed less morbidity in patients undergoing fundoplication procedures. Concerns about the long-term cost and safety of both strategies have prompted a debate of their role in long-term management of patients with severe erosive esophagitis. METHODS: A cost-utility analysis was performed to compare two strategies: laparoscopic Nissen fundoplication (LNF) vs. omeprazole. A two-stage Markov model was used to obtain cost and efficacy estimates; all estimates were discounted at 3% per year. The time horizon was 5 years. Sensitivity analyses were performed on all relevant variables. RESULTS: Both strategies were similarly effective (4.33 quality-adjusted life years per patient), with omeprazole less expensive than LNF ($6053 vs. $9482 per patient). At 10 years, LNF and omeprazole costs were similar. Efficacy estimates were extremely sensitive to changes in quality of life associated with postoperative symptoms and long-term use of medication. CONCLUSIONS: Medical therapy is the preferred treatment strategy for most patients with severe erosive esophagitis. Individuals with a long life expectancy are good candidates for LNF if postoperative morbidity is low and GERD symptoms remain abated for many years.

Adult↗

Who removes pigmented skin lesions?

BACKGROUND: Increasing numbers of pigmented skin lesions are being removed because of concern about possible malignancy. OBJECTIVE: Our purpose was to determine the ratio of benign to malignant pigmented tumors removed by different categories of physician and to verify whether any improvement had occurred after 5 years of educational programs. METHODS: All pigmented lesions submitted to a major histopathology service in the years 1989 and 1994 were assessed as to the category of physician who removed the lesion, tumor type, and age and sex of the patient. RESULTS: Dermatologists had the lowest benign/malignant ratio and general practitioners had the highest. General practitioners appeared to have difficulty differentiating both seborrheic keratoses and melanocytic nevi from malignant lesions; the frequency of these benign lesions was highly dependent on the age of the patient. During the 5-year period we observed an improvement among general practitioners in the benign/malignant ratio for melanocytic nevi, but not for seborrheic keratoses. CONCLUSION: There is room for improvement by physicians in differentiating both melanocytic nevi and seborrheic keratoses from melanomas. This is especially true for general practitioners, from whom the public in Australia and in other countries is encouraged to first seek advice about a suspect pigmented lesion.

Adult↗

Dyspepsia due to eosinophilic gastroenteritis.

Classical eosinophilic gastroenteritis is a rare disease but may be misdiagnosed in clinical practice. We report eosinophilic gastroenteritis that was diagnosed in six patients (four males and two females; mean age 31.5 years) using standard criteria (presence of gastrointestinal symptoms, a predominant eosinophilic infiltrate on biopsy, and exclusion of other causes of eosinophilia). All had gastric mucosal disease and presented with dyspepsia. The median duration of symptoms prior to diagnosis was three months (range five weeks to 13 years). Epigastric pain or discomfort was the most common symptom (100%) followed by anorexia, nausea, and vomiting (67%, 67% and 33%, respectively). None had diarrhea. Half the patients had a history of allergy, while 67% had peripheral eosinophilia. All responded to oral steroids within two months; one third needed to continue on a small dose of maintenance steroids to remain in remission. A high degree of suspicion and biopsy at upper endoscopy is necessary for diagnosis of this rare disease.

Adolescent↗

What do children aged 5 to 11 years old know about the sun and skin cancer? The practical difficulties of international collaborative research when analysis of language is involved.

The objective of this study was to determine the perceptions of primary school children about sun exposure and skin cancer, and the language they use about these issues, as a basis for the design of health promotional materials. In all, 2857 children in five European countries took part in the study and were compared with 641 Australian children participating in a similar study, since the latter have been exposed to more intensive health education about the sun. The 'draw and write' technique was used. In Europe the level of awareness about the risks of excessive sun exposure and the need to protect the skin was considerably lower than in Australia, although there was some variation within northern Europe. Amongst the European children acknowledging a need to protect the skin, the principal means of protection quoted was the use of suncreams, with inadequate awareness of the value of clothing, hats and shade. European children expressed greater approval of suntans than did the Australian children. Some methodological problems were encountered as a result of nuances in the languages involved, emphasizing difficulties in international research of this type.

Age Factors↗

A new keratin 2e mutation in ichthyosis bullosa of Siemens.

Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin condition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution. Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear aggregates. IBS has been linked to the type II keratin cluster on chromosome 12q, and K2e mutations have recently been identified in IBS patients. We have studied genomic DNA from two IBS families and in both cases heterozygous point mutations were found in the 2B helical domain of K2e. One family had an established mutation in codon 493 (E493K), whereas the other had an unreported mutation in the adjacent codon (E494K). Both mutations were confirmed by allele-specific PCR. These data reinforce the hypothesis that mutations in the TYRKLLEGEE motif of the 2B helix are deleterious to keratin filament network integrity and provide further evidence for the involvement of K2e mutations in IBS.

Adolescent↗

Epidemiology of non-melanoma skin cancer and solar keratoses in Australia: a tale of self-immolation in Elysian fields.

Non-melanoma skin cancers (NMSC) are the commonest cancers in Australia. Their incidence rate is more than three times the rate of all other cancers combined. The incidence rate continues to rise to a stage where they now affect at least 1% of the population annually, necessitating treatment of more than 150,000 people per year. Exposure to sunlight in susceptible people appears to be the major environmental carcinogen in causation of these tumours. The exact nature of sunlight exposure necessary to induce them is still not entirely clear. Childhood exposure to sunlight stands out as being the major contributor to the development of all the common skin cancers. Solar keratoses are risk factors for NMSC and are precursors of squamous cell carcinoma. They appear to be more sensitive measures of carcinogenic sunlight exposure than frank invasive tumours. They are labile, and fluctuate in appearance clinically over time. Regular use of sunscreen can prevent new solar keratoses and increase clinical remission in existing ones. This is early evidence of the value of regular and adequate photoprotection in the long-term reduction of NMSC in Australia.

Adult↗

Public health approaches to skin cancer control.

Approaches in both the primary prevention and early detection areas to control the incidence and mortality of skin cancer have been examined in terms of a model for skin cancer control. Population-based approaches are thought to be appropriate in public health terms because it is possible for individuals to reduce their exposure to sunburn (and subsequently, their risk of skin cancer), by individual sun protection behavioural change. A number of preventative intervention studies have identified specific methods for achieving such change. The success of Australian efforts in changing behaviours and reducing sunburn is also described, along with the need to equip doctors and patients with the knowledge and skills required for the early detection of skin cancer. Approaches that promote screening with acceptable sensitivity along with reasonable specificity are important when considering the costs and effectiveness of population-based programmes.

Attitude to Health↗

Descriptive epidemiology of acne vulgaris in the community.

Acne is a common skin condition. No universally accepted standardized classification system for acne vulgaris exists, although there is a strong need for it. Thus, the clinical definition of acne has been unclear in many studies. The reported prevalence of acne varies from 35 to over 90% of adolescents at some stage. In some studies the prevalence of comedones approaches 100% in both sexes during adolescence. The prevalence of acne varies between sexes and age groups, appearing earlier in females than in males, possibly reflecting the earlier onset of puberty. There is a greater severity of acne in males than in females in the late teens, which is compatible with androgens being a potent stimulus to sebum secretion. The prevalence of acne at a given age has been shown to be highly dependent on the degree of sexual maturity. Acne commonly shows a premenstrual increase in women. Some studies have detected seasonal variability in acne vulgaris, with the colder months associated with exacerbation and the warmer months showing improvement. Other studies have not confirmed these findings. Several studies that have investigated the psychosocial impact of acne have had conflicting results. The prevalence of severe acne has decreased over the past 20 years due to improved treatment. The general prevalence figure for acne may be confounded by treatment and this factor needs to be accounted for when collecting data.

Acne Vulgaris↗

Behavioural dynamics of a clinical trial of sunscreens for reducing solar keratoses in Victoria, Australia.

OBJECTIVE: To determine whether the behaviour of participants based on perception of treatment group in a randomised trial contributed to clinical outcome. DESIGN: A double blind randomised controlled trial of the effect of daily application of SPF 17 broad spectrum sunscreen cream (or placebo) on solar keratoses. SETTING: A rural city in Victoria, Australia. Residents aged 40 years or over were invited by letter to attend for a skin cancer screening check. Of these, 588 people with between one and 30 solar keratoses enrolled in the trial and 431 completed the trial, which extended over a six month period that included summer. Participants' perceptions of their treatment allocation, adherence with the treatment regimen, adoption of other sun protection behaviours, side effects, and perceptions of change in condition were measured at two monthly intervals. RESULTS: There were no significant differences between those who completed the study and those that did not for sex, age, treatment group, skin type, number of solar keratoses or correct perception of treatment group. Thirty per cent of those completing the study correctly guessed their treatment allocation, and people were just as likely to be right as to be wrong when they stated their opinion about their treatment allocation (z = 1.04; p = 0.15). Study group, skin type, amount of time spent outdoors, presence of side effects, perceptions of change in skin condition did not significantly predict correct perception of treatment allocation. Multivariate analysis of variance indicated that adoption of other sun protection and adherence with cream use were not significantly affected by actual treatment allocation, correct perception of treatment allocation nor by their interaction. Poisson regression analysis showed a significantly lower difference ratio of solar keratoses in the sunscreen group compared with the placebo base cream group (OR 0.55; CI = 0.46, 0.64), and for women compared with men (OR = 0.76; CI = 0.63, 0.93) but no independent effect of any of the indices of other sun protection or adherence. CONCLUSIONS: A sufficient level of commitment to study procedures was achieved, so that trial participants did not adopt other behaviours that affected treatment outcomes. It is recommended that the potential threat to validity posed by the behaviour of participants be recognised at an early stage in planning of clinical trials, so that strategies to deal with this can be integrated into study protocols.

Adult↗

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the characteristic facial phenotype of AS, but in three there was a normal head circumference, two had epilepsy, ataxic movements were mild in three, the mean age of onset of walking was 2.4 years, and there was some sign language in all four patients. Our cases add further weight to the previously reported impressions of a milder phenotype in cases of AS resulting from UPD than in deleted AS patients. Patients suspected of having AS, but who are considered atypical, warrant DNA testing.

Abnormalities, Multiple↗

Keratinocyte growth stimulation by granulocyte-macrophage colony-stimulating factor (GM-CSF).

Human granulocyte-macrophage colony stimulating factor (GM-CSF) is a 22 kD glycoprotein derived from activated T cells, endothelial cells, fibroblasts and macrophages. It stimulates the proliferation and differentiation of haematopoietic cells and certain nonhaematopoietic cells. This study investigated the effect of GM-CSF on cultured human keratinocytes and determined whether these cells express GM-CSF receptors. Measurement of keratinocyte growth by image analysis showed that GM-CSF mildly stimulated the growth of keratinocytes. With 4 ng/ml GM-CSF the growth of primary keratinocytes and subcultured keratinocytes was only stimulated up to 25% and 18% of the control cell level, respectively. Human keratinocytes were incubated with GM-CSF at 4 ng/ml for 4 days to induce receptor expression. These cells showed only a weak positive reaction on affinity labelling using digoxigenated GM-CSF. We conclude that keratinocyte growth may be stimulated by GM-CSF but that the presence of GM-CSF receptors on these cells is equivocal.

Cell Division↗

Non-invasive in vivo techniques to differentiate photodamage and ageing in human skin.

It is important to differentiate skin changes due to the intrinsic ageing process from those due to chronic photodamage in the development of therapies to assist the latter condition, and in this study we have used instrumental techniques to differentiate between changes in a range of properties of skin due to ageing and those due to photodamage, especially with regard to elasticity. We measured three sites of differing sun exposure in a group of younger and in a group of older subjects. A pulsed A-scan ultrasound system was used to measure skin thickness, and a uniaxial extensometer was employed to assess elastic properties. Skin surface roughness measurements were made using silicone rubber impressions and a stylus profilometer. We demonstrated significant differences in skin roughness between young and old subjects at every site and differences between sun-exposed and sun-protected sites only in the older group. Parameters of the elastic properties of skin differed between the groups, and also between sites of most different sun exposure. The uniaxial extensometer can demonstrate a loss of the skin's elasticity predominantly by photodamage, and the roughness of the skin surface can be shown to increase mostly by chronological ageing but to decrease modestly by photodamage. This demonstrates that differences between the two processes can be quantified, and indeed they should be.

Adult↗

Long-term efficacy and safety of cyclosporin in severe adult atopic dermatitis.

A prospective, open, multicentre study was performed to investigate the efficacy and safety of long-term treatment with cyclosporin in adults with severe atopic dermatitis. Subjects were treated for a maximum of 48 weeks. For the first 8 weeks, cyclosporin was administered at 2.5 mg/kg per day. The dose was then adjusted according to response. Disease activity was monitored using the six-area, six-sign score and the proportion of skin involved. Pruritus and sleep disturbance were assessed using four-point scales. Response was further evaluated on a five-point scale. Adverse events, blood pressure and serum biochemistry were monitored. Tolerability was assessed on a five-point scale. One hundred subjects were enrolled and 65 completed 48 weeks of treatment. Withdrawals occurred due to remission (three), inadequate response (seven), protocol violations (11) and adverse events (14, of which seven were probably treatment related). Cyclosporin produced rapid and highly significant improvements in all indices of disease activity. Sixty-five subjects considered that they had shown a considerable improvement or complete clearance of disease. Most patients relapsed after cessation of treatment, but neither signs nor symptoms had returned to baseline severity 8 weeks later. Blood pressure and serum creatinine levels increased slightly, and in one subject renal impairment was a major factor contributing to withdrawal of the drug. Overall, 85 subjects rated the tolerability of cyclosporin as good or very good. The results indicate that cyclosporin has a place in the long-term treatment of severe atopic dermatitis provided that appropriate patients are selected and careful monitoring is performed.

Adolescent↗