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R Martell

Publications and source records attributed to R Martell.

At least 19 recordsLinked to original sources
PubMed2000

A structured record to implement the national guidelines for diabetes and hypertension care.

BACKGROUND: Guidelines to improve standards of care for hypertension and diabetes were disseminated by the National Department of Health in 1996 but have generally not been implemented by health professional in local primary care. A strategy for the adoption and implementation of the Guidelines was developed in collaboration with health professionals in primary care. OBJECTIVES: The development of a structured record, with prompts for the management of diabetes and hypertension according to the Guidelines. SETTING: Three community health centres (CHCs) in the Western Cape. PARTICIPANTS: Doctors and nurses managing patients with diabetes and hypertension. METHODS: A draft of the structured record was developed at a single-pilot CHC in the Western Cape. Focus group discussions established the core requirements for a structured record. Process, result and structural indicators in line with the national Guidelines were considered for inclusion in the draft record. This draft record was then piloted at two other CHCs. Comments from semi-structured interviews and pre- and post-test evaluation questionnaires were used to compile the final instrument. RESULTS: Eleven doctors and 8 nurses participated in the development of the final instrument. Important considerations in the design were a single-page, user-friendly format, tick-boxes to reduce writing, prompts, provision for sequential recording, target setting, and compatibility with the Guidelines. The final instrument was piloted and elicited a favourable overall response. CONCLUSION: The structured record simplifies the application of the Guidelines and the systematic recording of processes of care. The effectiveness of the Guidelines will be evaluated further in a randomised control trial using the structured record.

Diabetes Mellitus↗
PubMed1999

Treatment status and experiences of hypertension patients at a large health center in Cape Town.

OBJECTIVE: This study was undertaken at a community health center (CHC) in the Cape Peninsula in order to assess the treatment status, knowledge and experiences of hypertensive patients. In addition, a health indicator sheet for hypertension was evaluated and an attempt was made to identify predictors of blood pressure (BP) control at this clinic. METHODS: Two hundred two hypertensive patients were selected by interviewing the first available hypertensive patients. The patients' BP was measured electronically and by sphygmomanometer, and was compared to that recorded by the clinician on their clinic folders; heights and weights were also determined. RESULTS: Of the hypertensives, 41.6% had a BP above 160/95 mm Hg and only 42.1% had a BP below 140/90 mm Hg. Patients had little knowledge of either the consequences of hypertension or the actions needed to ensure that complications were prevented; 31% suggested home remedies for hypertension. The majority of the patients were satisfied with the service they received, but 47% complained about long waiting times, 37% felt that the doctor did not examine them adequately, and 15.5% reported that insufficient medication was provided when filling prescriptions. Urine and eye tests had been conducted infrequently during the previous two years. Thirty percent of the patients requested the return of the dedicated hypertension clubs. Conditional logistic regression models identified that patients who expressed the need to make proposals to the clinic staff about their care had better BP control than those who did not. CONCLUSIONS: The BP of hypertensive patients is not optimally controlled at this CHC and both non-drug and drug management of hypertension need to be improved. Steps should be taken to help hypertensive patients become more knowledgeable so that they may play more active and compliant roles in their hypertension care. Patients also suggested that dedicated hypertension clubs be reinstituted at the CHCs.

Aged↗
PubMed1996

Mseleni joint disease--a molecular genetic approach to defining the aetiology.

Mseleni joint disease (MJD) is an unusual form of progressive and widespread degenerative osteoarthropathy that has been identified in several hundred people in the remote Mseleni region of northern Zululand. Affected individuals experience articular discomfort in childhood and may be seriously handicapped as adults, often requiring prosthetic hip joint replacement. Although the condition clusters in families, there is no evidence of Mendelian inheritance and assessment of affected kindreds has not shown any evidence of genomic imprinting. To date our molecular work-up has entailed the study of 47 affected individuals from MJD kindreds to investigate familial predisposition based on the inheritance of a subset of markers and/or genes on the human genome, particularly those associated with the cartilage matrix. In addition, we have collected blood specimens form 111 unaffected but unrelated individuals from the same population group in order to determine whether any relationship exists between genetic components of the human leucocyte antigen (HLA) system and the MJD phenotype. Our investigations show the following: (i) there is no association between MJD and the HLA system which has previously been associated with non-Mendelian genetic conditions; (ii) COL2A1, which has been implicated in some forms of spondylo-epiphyseal dysplasia, may be involved in at least a subset of MJD patients; and (iii) type VI collagen is overabundant in degenerated hip joint cartilage.

Black People↗
PubMed1994

The role of ethnicity in primary angle-closure glaucoma.

Primary angle-closure glaucoma is significantly more common than primary open-angle glaucoma in the East, whereas in Africa and Europe the reverse is true. In order to study the role of ethnic background in the frequency of primary angle-closure glaucoma in Cape Town and, in particular, in people of mixed ethnic background, the so-called 'coloureds', we retrospectively reviewed all patients with primary glaucoma who attended the glaucoma clinic at Groote Schuur Hospital during a 30-month period. Primary angle-closure glaucoma was diagnosed in 11 of 63 (17%) whites, 11 of 85 (13%) blacks and 114 of 244 (46.7%) coloureds with primary glaucoma; the difference is statistically highly significant (P < 0.001). The human leucocyte antigen frequencies in 97 coloured patients with primary angle-closure glaucoma were similar to those found in a control group of individuals with a similar ethnic background. This study highlights the fact that coloureds are more predisposed to primary angle-closure glaucoma than whites or blacks. Because of their strong historical and genetic ties with south-east Asia, this greater prevalence of primary angle-closure glaucoma might be explained by an Eastern influence on the ocular structures of the eye, as opposed to an African or European influence.

Black People↗
PubMed1993

Polymerase chain reaction-based detection of MN blood group-specific sequences in the human genome.

The MN blood group antigens have traditionally been detected by serotyping; however, development of a DNA-based method offers flexibility in the determination of this highly polymorphic system. Genotyping the MN blood group antigens was performed by polymerase chain reaction amplification of the specific alleles (PASA) in the human genome. In separate paired reactions, M or N allele-specific oligonucleotide primers were amplified with a common distal primer. Only in the presence of the homologous template was a 781-base pair polymerase chain reaction amplification product visible after agarose gel electrophoresis and ethidium bromide staining. This method of genotyping could be performed using either 1 microgram of extracted DNA or 0.5 microL of whole blood, and the results showed 100-percent correlation with those obtained by serotyping. PASA-based genotyping of MN blood group antigens, which requires a small amount of starting material, has application in linkage and population studies and in forensic medicine.

Base Sequence↗
PubMed1993

STEM, a new low-frequency Rh antigen associated with the e-variant phenotypes hrS-(Rh: -18, -19) and hrB-(Rh: -31, -34).

The new low-frequency antigen STEM was identified when a Cape coloured woman with an unknown antibody in her plasma (which agglutinated the red cells of her husband and a minority of other individuals) gave birth to a baby suffering mildly from haemolytic disease of the new-born. Most, but not all, examples of anti-STEM distinguish different strengths of STEM antigen on the red cells of different people; the different strengths are inherited. Family studies established that STEM was inherited as a Mendelian dominant character. STEM subdivides hrS-(Rh: -18, -19) and hrB- (Rh: -31, -34) red cells into two types: STEM+ and STEM-. The manually calculated lod score for STEM being associated with the Rh system is 3.91 and LIPED calculated lod score 4.35. The International Society of Blood Transfusion has allocated STEM the Rh number 49.

Female↗
PubMed1991

Piebaldism: an autonomous autosomal dominant entity.

Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.

Adolescent↗
PubMed1991

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).

Adult↗
PubMed1990

Phenotypic expression of the HLA linked iron-loading gene in males over the age of 40 years: a population study using serial serum ferritin estimations.

The frequency of the HLA linked iron-loading gene was assessed in 1783 Afrikaner men over the age of 40 years living in the South Western Cape. Measurements, made on three occasions over a 4.5 year period, included the serum ferritin concentration, a screening test for reduced unsaturated iron-binding capacity and the percentage transferrin saturation. The serum gamma-glutamyl transferase concentration was used as a marker of alcohol abuse. The diagnosis of homozygosity was based on a serum ferritin concentration that was persistently greater than 400 micrograms l-1 and a percentage transferrin saturation greater than 55%. Using these criteria, 17 subjects were diagnosed as homozygous, corresponding to a disease frequency of 0.0095, a gene frequency of 0.0976 and a heterozygote frequency of 0.176 (95% confidence limits: 0.135-0.213). None of the subjects had overt clinical haemochromatosis. Typing for the HLA-A, -B, -C and -DR loci showed that the HLA-A3 allele (frequency 0.6471 and relative risk 4.4) was the only independent marker for the iron-loading gene in this asymptomatic population. Using the present approach it was not possible to distinguish between heterozygotes, alcohol abusers and normal subjects with serum ferritin concentrations at the upper end of the normal range.

Adult↗
PubMed1987

Effects of cyclosporine in recent-onset juvenile type 1 diabetes: impact of age and duration of disease.

Administration of cyclosporine resulted in reduced insulin requirements and improved glycemic control in patients with insulin-dependent diabetes mellitus of recent onset, but the drug was less effective in young children. Renal toxic effects and other problems related to therapy resolved after discontinuation of the drug. Sustained remission seemed dependent on continued administration of cyclosporine. Although short-term control of diabetes may be achieved in some patients, more studies are needed to determine whether cyclosporine can be given safely as maintenance therapy to maintain glycemic control and prevent the long-term consequences of the disease.

Adolescent↗
PubMed1987

Cyclosporin-erythromycin interaction in normal subjects.

We studied the pharmacokinetic interaction between cyclosporin (CYA) and erythromycin in normal subjects. Plasma CYA concentrations were measured by high performance liquid chromatography (h.p.l.c.) and radioimmunoassay (RIA) and estimates of metabolite formation were obtained from inter-assay differences between these measurements. Erythromycin significantly increased the maximum concentration and the area under concentration-time curve. Time to maximum concentration and apparent oral clearance of CYA were significantly decreased. The half-life, however, was not altered. Significant reductions in the proportion of apparent metabolite were observed at times of maximum CYA concentrations but not at later time periods (12 and 24 h). The mechanism of the drug interaction appears to be decreased hepatic first-pass metabolism but an effect on CYA absorption cannot be excluded. These results on normal subjects confirm that patients administered CYA and erythromycin risk CYA toxicity. However, the risk can be reduced by dose reduction based on more frequent CYA monitoring or by using a different antibiotic.

Adult↗
PubMed1985

Disappearance and reappearance of islet cell cytoplasmic antibodies in cyclosporin-treated insulin-dependent diabetics.

In 68 newly diagnosed patients with insulin-dependent diabetes mellitus (IDDM) whose treatment included cyclosporin (CyA) the prevalence and mean titre of islet cell cytoplasmic antibodies (ICA) fell faster than they did in the 56 who received only insulin. However, in the CyA-treated patients the prevalence or titre of ICA at diagnosis did not correlate with beta-cell function as measured by glucagon-stimulated C-peptide levels; improvement and recovery of beta-cell function after 30 days of CyA therapy occurred despite the continued presence of ICA; and CyA-induced remission of IDDM (ie, glucagon stimulated plasma C-peptide levels greater than 0.6 pmol/ml) was not predicted by nor coincident with disappearance of ICA. Therefore, although CyA therapy was associated with a higher than expected frequency of remission and faster disappearance of ICA, the two observations were not temporally and may not be causally related. ICA should not be used to identify the target population for or to predict response to immunosuppressive therapy. The contribution of ICA to the pathogenesis of beta-cell destruction in IDDM needs serious re-examination.

Adolescent↗
PubMed1984

Effects of cyclosporine immunosuppression in insulin-dependent diabetes mellitus of recent onset.

Type I diabetes may be an autoimmune disorder, although the evidence is largely circumstantial. The natural history of the disease after diagnosis includes partial remission in most patients, but only about 3 percent achieve transient insulin independence. beta Cell function, as indicated by the plasma concentration of C-peptide, is lost over 6 to 30 months and islet cell antibodies disappeared over 1 to 2 years. This article describes a pilot study in which 41 patients were treated with the immunosuppressive agent cyclosporine for 2 to 12 months. Of 30 patients treated within 6 weeks of diagnosis, 16 became insulin independent with concentrations of plasma C-peptide in the normal range and decreasing titers of islet cell antibodies. Of 11 patients who entered the study 8 to 44 weeks after diagnosis, two achieved this state. These results indicate that a controlled trial of the effects of cyclosporine in type I diabetes should be conducted.

Adolescent↗