Sustainability and effectiveness of comprehensive diabetes care to a district population.

AIMS: To evaluate whether diabetes care in a district population can be sustained over time and intensive management of multiple risk factors can be achieved against a background of rising prevalence of known diabetes and shift of responsibility towards primary care. METHODS: Assessment of process and outcome measures achieved by a comprehensive diabetes service. Routine data were collected from patients registered with diabetes in a district population by repeated cross-sectional survey in 1991 (n = 2284 patients) and 2001 (n = 5809 patients). RESULTS: Between 1991 and 2001 the recording of body mass index (76.8 vs. 71.3%, P = 0.01) and HbA(1c) measurement (92.2 vs. 86.4%, P < 0.001) decreased, whereas recording of smoking status (72.4 vs. 82%, P < 0.001), cholesterol level (54.7 vs. 82.5%, P < 0.001) and eye screening result (86.1 vs. 91.3%, P < 0.001) improved. Surviving patients with Type 2 diabetes had significant improvements in systolic blood pressure, diastolic blood pressure and cholesterol, significant deterioration in HbA(1c) and creatinine, and no change in body mass index. Changes in blood pressure and HbA(1c) over time were similar to those reported in the UKPDS. CONCLUSIONS: The delivery of processes and outcomes of care to a district population can be sustained at a high level over a 10-year period within a comprehensive diabetes service. We would suggest that a multifaceted complex intervention is required to achieve these results.

Changes in prevalence and site of care of diabetes in a health district 1991-2001.

AIMS: Alongside a rising prevalence of known diabetes, patterns of care for diabetes have been changing in the United Kingdom. The aim of this study is to describe the changes in the prevalence of known diabetes and shift in site of care of patients in a single health district over a 10-year period. METHODS: Repeat cross-sectional study over 10 years of patients with diabetes resident in North Tyneside district. RESULTS: The crude prevalence of known diabetes in North Tyneside rose from 1.1 to 3.0% between 1991 and 2001. The proportion of patients receiving their diabetes care wholly in primary care rose significantly from 608/2236 (27%) in 1991 to 3995/5809 (69%) in 2001 (chi(2) = 968, 1 d.f., P < 0.001). The number of patients attending secondary care also rose by 14% over this period of time from 1508 to 1712 patients. CONCLUSIONS: Most of the extra workload of the rising prevalence of diabetes has been met in primary care. However, hospital care has not seen a drop in workload. This has important implications for health care planning, as an increase in resources will be required within both primary and secondary care to meet the needs of the diabetic population.

Improvements in the provision of hospital diabetes services in an English region 1988-98.

AIMS: To investigate the changes in provision of hospital-based services for patients with diabetes in an English region over a 10-year period. METHODS: Questionnaires were completed by lead clinicians in hospitals in the Northern region of England in 1988 and repeated in 1998. Information was sought on diabetes service provision including the staff and their working practices. Data are presented to demonstrate changes during the 10 years. RESULTS: During a 10-year period the number of consultants providing specialized diabetes services increased from 16 to 25 (to become one per 126 240 population). Their outpatient sessions changed from 34 to 55.5 per week, with a decrease in nonspecialists providing diabetes services. Reductions occurred in registrar numbers providing sessions from 23 to 15 and senior house officers from 16 to 14. Increases occurred in other health care professionals: diabetes specialist nurses from 19 to 30.3 whole time equivalents (WTEs); dieticians from 16 to 32.3 WTEs and chiropodists from 8 to 23 WTEs. The numbers of specialized clinics and units providing services from diabetes care centres increased. Improved facilities in clinics and access to laboratory tests were available to all units. Diabetes registers came into use in 12 of 16 units, but there have been difficulties in providing funding. 'Out-of-hours' advice has moved towards advising their patients to see their general practitioners or the accident and emergency department of the hospitals. CONCLUSIONS: The number of diabetes professional staff and the provision of specialized diabetes services have increased during a 10-year period in the Northern region of England. However, they still fall far short of recommended staffing levels and services are far from comprehensive in most districts.

Change counselling in diabetes: the development of a training programme for the diabetes team.

Skills in counselling for behaviour change may help staff working in diabetes care to facilitate self management in people with diabetes. A feasibility study was conducted to define the essential competencies (attitudes, knowledge and skills), training methods, and assess whether this approach was practicable in a diabetes resource centre. Semi structured interviews with staff were routinely conducted throughout the duration of the study. The findings suggest that the stages of change model, motivational interviewing and behavioural techniques are relevant to work in this area. Acquiring the competencies was harder to achieve than anticipated, though most were evident after one years training. The most valued training methods were individual supervision and video examples. However, the competencies were difficult to apply in the clinical setting given time constraints, the strength of existing staff routines and the patients' readiness to change. The lessons learned and suggestions for future work are presented.

Prospective population based survey of outcome of pregnancy in diabetic women: results of the Northern Diabetic Pregnancy Audit, 1994.

OBJECTIVE: To determine whether the St Vincent declaration (1989) target of diabetic pregnancy outcome approximating non-diabetic pregnancy outcome in near to being achieved. DESIGN: Prospective collection of population based information on pregnancies in women with diabetes from all participating hospitals. SETTING: District general and teaching hospitals of the former Northern region. SUBJECTS: 111 diabetic women booking with pregnancy during 1 January to 31 December 1994. MAIN OUTCOME MEASURES: Diabetic control, perinatal mortality rate, fetal abnormality rate. RESULTS: The perinatal mortality rate was 48/1000 for diabetic pregnancies compared with 8.9/1000 for the background population (odds ratio 5.38; 95% confidence interval 2.27 to 12.70) and the neonatal mortality rate was 59/1000 compared with 3.9/1000 (15.0; 6.77 to 33.10). Two late neonatal deaths were due to congenital heart defects. Six per cent of all fetal losses (6/109 cases) were due to major malformations. The congenital malformation rate was 83/1000 compared with 21.3/1000 (3.76; 2.00 to 7.06) in the background population. CONCLUSIONS: Diabetic pregnancy remains a high risk state with perinatal mortality and fetal malformation rates much higher than in the background population.

Isochromosomes of both short and long arms of chromosome 12 resulting in an additional copy of chromosome 12 in a case of splenic lymphoma with villous lymphocytes.

We report a case of splenic lymphoma with villous lymphocytes showing a karyotype with an isochromosome for both the long arm and the short arm of chromosome 12, i(12)(p10) and i(12)(q10), effectively resulting in trisomy 12. This is, apparently, the first documented case of an additional copy of chromosome 12 resulting from isochromosome formation in a neoplastic disorder.

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties.

Comprehensive diabetes care in North Tyneside.

The care of a 25% (n = 559) random sample of all patients with diabetes in a district was assessed to determine whether comprehensive diabetes care was being achieved. Process measures initially assessed were repeated 3 years later after several changes in the programme of diabetes care were instituted. The number of patients with diabetes in structured care increased from 91% to 95% between 1991 and 1994, at the same time as an increase in prevalence from 1.2% to 1.8%. There was a shift in the proportion of patients attending primary care from 27% to 40%. There were significant improvements in the delivery of process measures including education. The majority of process measures were delivered to more than 75% of the district diabetes population (for example HbA1c in 93%, fundoscopy in 86%, urine protein in 81%, education on diabetic control in 84%). Comprehensive diabetes care has not yet been fully achieved in North Tyneside district but the programme of care has shown continuous improvement over a 3-year period. Comprehensive diabetes care should be an aim of every district diabetes programme.

Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid.

A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY, - 14,+t(13q14q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve conduction velocities characteristic of CMT1A. This patient was not informative for the DNA markers mapping to the CMT1A region; however, with DNA markers pA10-41 and EW503 that map proximally and distally with respect to the disease locus, a dosage difference was observed between the two alleles. Comparison with parental genotypes indicated a de novo maternal duplication. Pulsed field gel analysis using probe VAW409R3a indicated that a 500-kb SacII junction fragment usually associated with CMT1A was absent in this patient. These findings confirm that the disease phenotype is probably caused by a gene dosage effect.

The physical map of chromosome arm 19q: some new assignments, confirmations and re-assessments.

We have constructed and analysed somatic cell hybrids from cell lines containing balanced reciprocal translocations involving chromosome 19 and providing two new breakpoints on 19q. These and other hybrids have been tested with a series of markers from 19q to enhance the existing map. Several new cloned DNA sequences that map to 19q13.3-19qter are reported; the locus D19Z1 has been analysed by CHEF gel electrophoresis.

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

DNA samples were obtained from children with Wolf-Hirschhorn syndrome and their parents to assist with gene mapping studies of 4p16.3 (the region known to contain the Huntington's disease gene). A panel of seven families was studied, using polymorphic DNA markers, to determine the parental origin of the chromosome abnormality resulting in Wolf-Hirschhorn syndrome. All seven cases were the result of de novo deletions or rearrangements of 4p and in each case the abnormality arose on the paternal chromosome. Analysis of the 3' hypervariable regions of the alpha globin and mucin loci indicated that non-paternity was unlikely to be an explanation for these results. A paternal age effect was not observed. The possibilities of an environmental influence or genetic imprinting require further consideration. This report extends information regarding the preponderance of the paternal origin of de novo structural deletion syndromes.

Replication studies in the 16p+ variant.

We report a further case of the 16p+ chromosome studied by replication banding. The extra euchromatic material was shown to be uniformly light staining, indicating that it is late replicating.

A new DNA marker tightly linked to the fragile X locus (FRAXA).

The fragile X syndrome is the most common cause of familial mental retardation. Genetic counseling and gene isolation are hampered by a lack of DNA markers close to the disease locus. Two somatic cell hybrids that each contain a human X chromosome with a breakpoint close to the fragile X locus have been characterized. A new DNA marker (DXS296) lies between the chromosome breakpoints and is the closest marker to the fragile X locus yet reported. The Hunter syndrome gene, which causes iduronate sulfatase deficiency, is located at the X chromosome breakpoint that is distal to this new marker, thus localizing the Hunter gene distal to the fragile X locus.

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

Cytogenetic re-evaluation of a fibroblast cell line from a female Hunter's syndrome case with a balanced X;autosome translocation, which had previously been reported to have a breakpoint in Xq26 to Xq27, showed the breakpoint to be either between Xq27 and Xq28 or within Xq28. The normal X chromosome was preferentially inactivated, supporting the view that the translocation had disrupted the Hunter gene. The new localisation is now in full agreement with our previous linkage work and other published data. Results of further linkage studies using probes defining the loci DXS86, DXS144, DXS100, DXS102, DXS105, F8C, and DXS134 are also consistent with our original conclusion that the Hunter locus lies within the distal region of the X chromosome long arm.