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PubMed1989

Genetic aspects of tuberous sclerosis in the west of Scotland.

Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an overall minimum prevalence of 1 in 27,000, but for children under 10 years of age the minimum prevalence was 1 in 12,000. Both parents of 84 of the ascertained cases were assessed for signs of tuberous sclerosis. In 51 pairs of parents no evidence of the condition was seen, indicating that up to 60% of the cases were new mutations. The mutation rate was estimated at 2.5 X 10(-5) mutations per gene per generation. Analysis of parental ages for the new mutations did not show a significant age effect. Thirty-five patients occurred in 13 families containing other affected subjects. The pattern of inheritance was consistent with an autosomal dominant trait in these families. In one sibship, non-penetrance or gonadal mosaicism resulted in affected sibs with normal parents. Of two further sibships where non-penetrance was suspected, one was shown to represent a single new mutation in monozygotic twins and the other to involve non-paternity.

Adult↗
PubMed1993

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.

We have identified all known sufferers of cystic fibrosis (CF) alive in the Grampian region, north east Scotland, on 1 January 1989. DNA samples were obtained for a prevalence study of the common mutations with near to complete ascertainment. A relatively high prevalence of the delta F508 mutation was found (82%), with one of four mutations being present on 92% of CF chromosomes. The high prevalence of these four easily detectable mutations in Grampian has local implications for genetic counselling, the efficacy of population carrier screening, and the usefulness of mutation analysis in cases where the diagnosis of CF is in doubt.

Adult↗
PubMed1994

Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses.

Two hundred and eighty six cases of cleft lip, cleft palate, or both were identified in a study attempting complete ascertainment of babies with facial clefts born to women resident in the west of Scotland in a five year period beginning 1 January 1980. The total birth prevalence (TBP) of these defects over this period was 1.53 per 1000. The TBP for cleft lip with or without cleft palate (CL[P] was 0.74 per 1000 and for cleft palate (CP) was 0.79 per 1000; 26% of CL[P] and 39.5% of CP cases had one or more major congenital anomaly associated with their facial cleft and in over half of these cases a specific genetic or syndrome diagnosis could be made. In comparison to previous European reports this study shows a high incidence of associated abnormalities and a remarkably low ratio of CL[P]:CP cases.

Abnormalities, Multiple↗
PubMed1996

Holoprosencephaly in the west of Scotland 1975-1994.

Cases of holoprosencephaly which occurred in the west of Scotland over the past 20 years were ascertained from genetics, paediatric, and pathology department records. Fifty cases were identified of which 17 had an underlying cytogenetic abnormality. Of the remaining 33 cases, 26 were delivered after 28 weeks' gestation giving a birth prevalence of 1 in 26730. Twenty-one babies were liveborn and nine children are currently alive. All survivors are profoundly mentally retarded and most have seizures. Twenty-eight patients with non-chromosomal holoprosencephaly had a total of 23 sibs and three families were identified where there was either recurrence of holoprosencephaly (one family), a related cerebral malformation (one family), or mental handicap (one family) giving an overall recurrence risk for serious neurological disability of 12% (standard error 7%). We conclude that holoprosencephaly does not necessarily breed true and this observation should be taken into account when giving genetic counselling and attempting ultrasound prenatal diagnosis after the birth of an affected child.

Chromosome Aberrations↗
PubMed1998

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.

Familial hypercholesterolaemia (FH) is an autosomal codominant disorder characterised by high levels of LDL cholesterol and a high incidence of coronary artery disease. Our aims were to track the low density lipoprotein receptor (LDLR) gene in individual families with phenotypic FH and to identify and characterise any mutations of the LDLR gene that may be common in the west of Scotland FH population using single strand conformational polymorphism analysis (SSCP). Patient samples consisted of 80 heterozygous probands with FH, 200 subjects who were related to the probands, and a further 50 normal, unrelated control subjects. Tracking of the LDLR gene was accomplished by amplification of a 19 allele tetranucleotide microsatellite that is tightly linked to the LDLR gene locus. Primers specific for exon 4 of the LDLR gene were used to amplify genomic DNA and used for SSCP analysis. Any PCR products with different migration patterns as assessed by SSCP were then sequenced directly. In addition to identifying probands with a common mutation, family members were screened using a forced restriction site assay and analysed using microplate array diagonal gel electrophoresis (MADGE). Microsatellite D19S394 analysis was informative in 20 of 23 families studied. In these families there was no inconsistency with segregation of the FH phenotype with the LDLR locus. Of the FH probands, 15/80 had a mutant allele as assessed by SSCP using three pairs of primers covering the whole of exon 4 of the LDLR gene. Direct DNA sequencing showed that 7/15 of the probands had a C163Y mutation. Using a PCR induced restriction site assay for the enzyme RsaI and MADGE, it was determined that the C163Y mutation cosegregated with the FH phenotype in family members of the FH probands. This mutant allele was not present in any of the control subjects. Microsatellite analysis has proven useful in tracking the LDLR gene and could be used in conjunction with LDL cholesterol levels to diagnose FH, especially in children and young adults where phenotypic diagnosis can be difficult.

Adult↗
PubMed2002

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.

Anophthalmos↗
PubMed2004

Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.

OBJECTIVES: To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports. METHODS: DNA was screened from 1190 anonymised controls, 137 subjects who had tested negative for Huntington's disease, 176 with schizophrenia, and 173 with undiagnosed ataxia. Five unrelated ataxic patients with the SCA 8 expansion and a sixth identified subsequently had clinical and psychometric assessment; the clinical features were available in a seventh. A systematic search for other reports of SCA 8 was undertaken. RESULTS: Over 98% of SCA 8 CTA/CTG repeat lengths fell between 14 and 40. Repeat lengths over 91 were observed in three healthy controls (0.12%), two patients with suspected Huntington's disease (0.73%), and six ataxic subjects (1.74%; p<0.0005 v healthy controls). Repeat lengths over 100 occurred in five ataxic subjects but in only one control. All seven symptomatic subjects with the SCA 8 expansion had a cerebellar syndrome; four had upper motor neurone signs; and 5/6 assessed had cognitive complaints. There was personality change in two and mood disturbance in three. In published reports, SCA 8 repeat lengths over 91 occurred in approximately 0.5% of the healthy population but were over-represented among ataxic patients (3.4%; p<0.0001). The predominant clinical phenotype was cerebellar, with pyramidal signs in 50%, and neuropsychiatric features in some cases. CONCLUSIONS: SCA 8 expansion is a risk factor for a cerebellar syndrome, often associated with upper motor neurone and neuropsychiatric features. The expansion occurs unexpectedly often in the general population.

Adolescent↗
PubMed2005

The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene on 19p13. Varying phenotypic expression leads to under recognition and misdiagnosis. Prevalence therefore remains uncertain. We sought to estimate the prevalence of CADASIL in the west of Scotland. METHODS: A register for CADASIL was established at a regional neurosciences centre in 2002. All patients with genetically (exons 3, 4, 5, and 6) or histologically confirmed CADASIL residing in two defined administrative health areas were identified. Pedigree members at varying risk of carrying the mutation were also identified and the number of probable Notch3 mutation carriers in the defined population was predicted. Prevalence was calculated for definite CADASIL cases, with and without probable carrier numbers, based upon adult population figures from the 2002 national census. RESULTS: Twenty two individuals from seven pedigrees with confirmed CADASIL and resident in the defined geographical area were identified, yielding a prevalence of 1.98 (95% confidence interval 1.24-3.00) per 100 000 adults. An additional 37 individuals were predicted to be carriers of the Notch3 mutation, yielding a probable mutation prevalence of 4.14 (3.04-5.53) per 100,000 adults. CONCLUSIONS: The prevalence of genetically proven CADASIL was 1.98 per 100,000 adults in the defined population. This figure underestimates disease burden.

Adolescent↗
PubMed1987

Survival pattern and cause of death in patients with multiple sclerosis: results from an epidemiological survey in north east Scotland.

The mean survival period in a series of 216 multiple sclerosis deaths, which formed part of a large prevalence sample observed in the Grampian region of Scotland, was 24.5 years, with an insignificant difference between females (25.7 years) and males (23.5 years). A third of the patients survived for over 30 years after onset. The age at death ranged between 25-80 years, with majority of the deaths occurring in the seventh decade (37%). On comparing life expectancy with the Scottish general population using life tables, only a slight reduction in the short-term (less than 10 years from onset) survival was noted in all age groups, with the exception of those with onset over the age of 50 years. The long-term life expectancy was however markedly reduced in all age groups compared with the controls. The survival period could be accurately predicted from the degree of disability at a point in time, and could be correlated with a number of clinical features, the most important of which was the age at onset. Eighty five per cent of those with onset of multiple sclerosis over the age of 50 years died within 20 years. Patients with a cerebellar disturbance at onset survived the shortest, and those with a brainstem lesion or retrobulbar neuritis the longest; those with a pyramidal dysfunction had an intermediate prognosis. Other parameters which could be correlated with the survival were: the timing and frequency of occurrence of psychiatric and urinary symptoms, interval between onset and first relapse and the course of the disease. As expected, most patients (89%) were significantly disabled (unable to walk) prior to death, only a minority, however, had become so within 10 years of the onset (10%). Sixty two per cent of the patients died of complications of multiple sclerosis. No unusual excess of any disease was noted amongst other causes. As expected, the majority of patients (55%) had bronchopneumonia as the terminal event, 11% had septicaemia, 15% had myocardial infarction and 4% had documented pulmonary embolism. This is the largest series of its kind where prognosis, judged by survival period, has been assessed amongst all multiple sclerosis patients derived from a prevalence sample and observed till death.

Adult↗
PubMed1992

Motor neuron disease and polio in Scotland.

An analysis of mortality and morbidity rates for motor neuron disease (MND) in Scotland has confirmed earlier observations that the disease is more common in men and older age groups. The geographical distribution is non-uniform and related to discharge rates for all neurological diseases. Discharge and mortality rates are increasing but there has been no decline in populations who would have been vaccinated against polio.

Adolescent↗
PubMed1996

Incidence of intracranial tumours in the Lothian region of Scotland, 1989-90.

OBJECTIVE: To determine the incidence of primary and secondary intracranial tumours in the Lothian region of south east Scotland. METHODS: A population based study was performed. Patients from Lothian with incident intracranial tumours diagnosed in 1989 and 1990 (by CT or histology) were identified retrospectively using multiple sources. Differences in incidence by tumour type, age, sex, and socioeconomic status were examined. RESULTS: Four hundred and forty two patients with incident intracranial tumours were identified (228 primary tumours and 214 secondary tumours). The crude yearly incidences of primary and secondary tumours were 15.3 and 14.3 per 100,000 respectively. The commonest primary tumours were neuroepithelial tumours (53.5%), meningeal tumours (19.5%), and sellar tumours (16.5%). About 50% of patients with secondary tumours had an underlying lung cancer. The incidence of primary and secondary tumours increased markedly with age. Meningeal tumours were more common in women, and neuroepithelial tumours were more common in those who lived in more affluent areas. CONCLUSIONS: The incidence rates of primary and secondary intracranial tumours in Lothian were more than twice those previously reported in the United Kingdom. Intracranial tumours are a significant cause of morbidity and mortality in the United Kingdom, and further research into their aetiology and treatment is urgently required.

Adolescent↗
PubMed1996

Familial hemiplegic migraine in the west of Scotland: a clinical and genetic study of seven families.

OBJECTIVES: Clinical and genetic characterisation of families in the west of Scotland with familial hemiplegic migraine. METHODS: Families with familial hemiplegic migraine were identified via probands attending the regional paediatric neurology and child development centre. All available family members were assessed clinically and genetic linkage studies for the known familial hemiplegic migraine gene locus on chromosome 19 were carried out on three families. RESULTS: Seven unrelated kindreds with familial hemiplegic migraine were identified. Clinical information was obtained on 138 family members, 27 of whom fulfilled the International Headache Society criteria for familial hemiplegic migraine. Whereas the severity, duration, frequency, and temporal progression of acute hemiplegic migrainous attacks showed pronounced variability within and between families, and even in the same individual over time, no true clinical heterogeneity of the condition was apparent. Genetic linkage analysis gave results consistent with linkage to the familial hemiplegic migraine gene locus on chromosome 19p in one family. In the other two families, evidence against linkage was obtained. There was no significant clinical difference between these three families. CONCLUSIONS: This study provides characterisation of the clinical features of familial hemiplegic migraine in a British population. Significant variability was found in the frequency and character of migraine attacks within and between families, and no true clinical heterogeneity was identified. On the other hand, further evidence for genetic heterogeneity of the condition was found.

Adolescent↗
PubMed2002

Prevalence of adults with brain arteriovenous malformations: a community based study in Scotland using capture-recapture analysis.

OBJECTIVE: To conduct a population based study of brain arteriovenous malformation (AVM) prevalence. METHODS: Multiple, overlapping sources of case ascertainment were used to establish the point prevalence of brain AVMs in the adult population of the Lothian health board of Scotland. Patients were sought retrospectively from all local general (family) practitioners, neurologists, neurosurgeons, stroke physicians, the specialist AVM clinic at the regional neuroscience centre, and routine coding of hospital discharge data. Case notes, brain imaging, and pathology reports were reviewed to validate each patient's diagnosis and to ensure that each was alive, over the age of 16 years, and resident in the geographical area of the study on the prevalence date of 30 June 1998. RESULTS: Of 148 potentially eligible people, 93 adults met the inclusion criteria. There were 40 women and 53 men. Men were significantly younger than women on the prevalence date (median age 39 years v 51 years, p = 0.003). Of those included, 25 (27%) had radiological evidence of prior therapeutic obliteration of their brain AVM and 9 (10%) had coexisting aneurysms. The minimum crude brain AVM prevalence was 15 per 100 000 adults and capture-recapture analysis gave an ascertainment adjusted prevalence of 18 (95% confidence interval 16 to 24) per 100 000 adults. CONCLUSIONS: The minimum estimate of brain AVM prevalence helps to assess its burden and comparative epidemiology and stresses the importance of brain AVMs as a cause of long term disability in adults.

Adult↗
PubMed2005

The lagged effect of cold temperature and wind chill on cardiorespiratory mortality in Scotland.

AIMS: To investigate the lagged effects of cold temperature on cardiorespiratory mortality and to determine whether "wind chill" is a better predictor of these effects than "dry bulb" temperature. METHODS: Generalised linear Poisson regression models were used to investigate the relation between mortality and "dry bulb" and "wind chill" temperatures in the three largest Scottish cities (Glasgow, Edinburgh, and Aberdeen) between January 1981 and December 2001. Effects of temperature on mortality (lags up to one month) were quantified. Analyses were conducted for the whole year and by season (cool and warm seasons). MAIN RESULTS: Temperature was a significant predictor of mortality with the strongest association observed between temperature and respiratory mortality. There was a non-linear association between mortality and temperature. Mortality increased as temperatures fell throughout the range, but the rate of increase was steeper at temperatures below 11 degrees C. The association between temperature and mortality persisted at lag periods beyond two weeks but the effect size generally decreased with increasing lag. For temperatures below 11 degrees C, a 1 degrees C drop in the daytime mean temperature on any one day was associated with an increase in mortality of 2.9% (95% CI 2.5 to 3.4), 3.4% (95% CI 2.6 to 4.1), 4.8% (95% CI 3.5 to 6.2) and 1.7% (95% CI 1.0 to 2.4) over the following month for all cause, cardiovascular, respiratory, and "other" cause mortality respectively. The effect of temperature on mortality was not observed to be significantly modified by season. There was little indication that "wind chill" temperature was a better predictor of mortality than "dry bulb" temperature. CONCLUSIONS: Exposure to cold temperature is an important public health problem in Scotland, particularly for those dying from respiratory disease.

Adult↗
PubMed1982

Incidence of treated alcoholism in north-east Scotland, Orkney, and Shetland fishermen, 1966-70.

The psychiatric case register for the north-east of Scotland has been used to calculate the rates for first contact with a diagnosis of alcoholism by fishermen and non-fishermen in the years 1966-70. In each of these years the fishermen had higher rates than non-fishermen as a whole and also higher rates than the non-fishermen from social class IV, which is the social class to which most fishermen belong. The smaller differences between the rates of fishermen and non-fishermen in 1969 and 1970 relative to 1966, 1967, and 1968 may reflect a preferential "shedding" of older alcoholic fishermen at a time when there was a greater than usual contraction in the size of the work force. Differences between the rates for fishermen and non-fishermen were also evident in the age groups 20-29, 30-39, 40-49, and 50-59, being most pronounced in the 20-29 group. The findings are consistent with fishing being an occupation with a high risk for alcoholism.

Adolescent↗
PubMed2005

Accidents don't happen any more: junior doctors' experience of fatal accident inquiries in Scotland.

OBJECTIVE: To determine the experience of junior doctors cited as witnesses at fatal accident inquiries (FAIs). DESIGN: Retrospective questionnaire study. SETTING AND SUBJECTS: 40 junior doctors who had been involved in FAIs from January 1998 to August 2002 were identified by the Medical Protection Society and Medical and Dental Defence Union of Scotland: 21 completed questionnaires were returned, a response rate of 52.5%. RESULTS: The process and objectives of FAIs were poorly understood. Few participants were proactive in contacting their defence union. There was a perceived lack of both formal and informal supports with respondents describing a "blame culture" within the medical profession. The experience of the FAI was generally considered stressful with respondents describing possible improvements relating to support, information, training, and the FAI procedure. CONCLUSIONS: Junior medical staff are poorly informed in this medicolegal area. There is a need for the development of mechanisms both to support junior doctors and to ensure that adverse incidents are dealt with using modern risk management techniques to minimise the risk of recurrence.

Accidents↗
PubMed1979

A fatal case of Legionnaires' disease originating in Scotland.

A 21-year-old female died in May 1976 from a pneumonic illness presenting with a right pleural effusion. Histopathology showed florid hyaline membrane disease of the left lung only, and focal pneumonitis in the lower lobe. Further investigations carried out by the Center for Disease Control, Atlanta, Georgia, showed that this patient had Legionnaires' disease infection, the first indigenous case diagnosed in Scotland. Post-mortem examination showed features differing from those in other published cases.

Adult↗
PubMed2003

Guidelines and management of mild hypertensive conditions in pregnancy in rural general practices in Scotland: issues of appropriateness and access.

OBJECTIVES: To assess the diagnosis and management of mild non-proteinuric hypertension in pregnancy in rural general practices against guideline recommendations. DESIGN: Postal survey and telephone interview. SETTING: All 174 designated rural general practices in Scotland. SAMPLE: 171 GPs and 158 midwives responsible for antenatal care stratified by distance from a specialist maternity hospital. MAIN OUTCOME MEASURES: Accuracy of diagnosis and appropriateness of management compared with guideline. RESULTS: At least one respondent replied for 91% (158/174) of rural practices. Response rates were 68% (117/170) for GPs and 77% (121/158) for midwives. Both GP and midwife replied for 46% (80/174) of practices. Most GPs (80%, 87/109) and midwives (63%, 71/113) overdiagnosed the scenario. Intended management was therefore most often referral or admission to specialist hospital (59%, 132/224), both courses of action beyond guideline recommendations. There was an association between distance of practice from specialist maternity hospital and professionals' report of intended referral or admission. Explanatory factors from telephone interviews included a poor knowledge base, cautious risk assessment, and perceived inflexibility of guidelines for remote situations. CONCLUSIONS: There is a lack of accuracy in the diagnosis of a common antenatal problem and intended management is consistent with overdiagnosis. The results suggest that women in rural settings may experience more antenatal referrals and admissions than are clinically appropriate according to the guidelines. At a time of increasing centralisation of maternity services, this could increase inappropriate referrals and increase costs to service and patients. Quality of care may be improved by developing consensual local guidelines with rural maternity care professionals and support maintained skills and confidence in decision making.

Family Practice↗