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Biomedical subjects

Andrew Singleton

Publications and source records attributed to Andrew Singleton.

53 records · Page 3Linked to original sources
PubMed2004

Copying referral letters to patients: the views of patients, patient representatives and doctors.

To discover the views of patients, patient representatives and doctors on copying referral letters to patients. A three-part study: an analysis of 50 GP referral letters against a standard template; 35 patient interviews using a semi-structured questionnaire in outpatient waiting rooms; 3 focus groups of patients, patient representatives and doctors. There was general agreement that copying referral letters to patients could improve information and decision sharing with patients. Copying referral letters could provide an opportunity for patients to correct mistakes, prepare for their appointments and have a personal record that they could keep and show to others. However, there were concerns about letter content, particularly medical terminology, character judgements and "sensitive" patient information. It was also recognised that providing more information to patients could increase patient anxiety. The style and content of some referral letters may need to change. This is particularly relevant where certain types of information included in referral letters could cause distress for patients or influence the time that patients have to wait for their outpatient appointments.

Anxiety↗
PubMed2004

Lessons from the implementation of a near patient anticoagulant monitoring service in primary care.

OBJECTIVE: To evaluate the implementation of a primary care, nurse-led, near patient anticoagulant monitoring service. DESIGN: Action research workshops, supported by questionnaires and clinical audit, to define the strengths and weaknesses of the service and the effectiveness of the computerised decision support system used to set the dosage of anticoagulant and time interval to the next appointment. SETTING: 13 general practices that implemented anticoagulant monitoring in a primary care organisation in south east England. PARTICIPANTS: 18 practice nurses, 72% of whom had over 20 years' clinical experience; the university-based investigators and managers from the primary care organisation. MAIN OUTCOME MEASURE: The nurses felt that the patients preferred the practice-based service, finding it more personal and accessible. However, circumstances arose where the nurse's intuition had to override the software's advice. The nurses found it stressful when they were unclear whether their decision making represented acceptable variation or dangerous practice. An audit tool was developed to measure the extent to which there was variation from the software's recommendation, and patterns of variation emerged. Most evident was that nurses responded to uncertainty by practising cautiously, shortening the interval until the next visit and slightly reducing the recommended dose of warfarin. CONCLUSIONS: The group, by sharing their experiences through a structured series of workshops, developed an understanding of when it might be appropriate to vary from the decision support software's recommendations and how this could be audited. The technological solution modelled on hospital practice proved hard to implement in primary care.

Anticoagulants↗
PubMed2003

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD.

Adult↗
PubMed2003

Primary hyperhidrosis--evidence for autosomal dominant inheritance.

Primary hyperhidrosis is a neurogenic disorder of unknown cause characterized by excessive sweating in the palmar surface of the hands, armpits, groin and feet. In the course of a therapeutic trial for primary hyperhidrosis, 62 % of patients reported a positive family history. Examination of these pedigrees demonstrated a sibling recurrence risk of lambdas = 29-48 and an offspring recurrence risk of lambdao = 41-68 indicating that hyperhidrosis can be an inherited condition. The pattern of inheritance suggests an autosomal dominant mode of transmission with incomplete disease penetrance.

Female↗
PubMed2003

Familiality in simple and complex disease.

Establishing the existence of a genetic contribution to disease is the first step in identifying the underlying gene defect(s). This can present a considerable challenge, particularly in diseases where the genetic contribution is complex in nature. Clinically well-characterized cohorts and large inter-institutional collaborations will be required to identify genes involved in complex disease.

Family↗
PubMed2003

Mutation at the SCA17 locus is not a common cause of parkinsonism.

Spinocerebellar ataxia (SCA) 17 is a dominant, progressive, neurodegenerative disorder. The disease is caused by a triplet repeat expansion mutation within TATA-binding protein (TBP). Ataxia, dementia, parkinsonism and dystonia are common features. We have previously shown in several pedigrees that SCA-2 and SCA-3 can cause both parkinsonism and typical Parkinson's disease in the absence of prominent ataxia; a finding which has been confirmed by others. Given these previous findings and the description of parkinsonism as a common feature of SCA-17 we examined this locus in a series of probands from families with 2 or more members affected with parkinsonism (n=51) and a group of sporadic parkinsonism patients (n=59). We did not find any repeat sizes in the pathogenic range. The repeats we observed ranged from 29 to 41 (mean 36.8; median 37). We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism.

Adolescent↗
PubMed2003

Genes and parkinsonism.

Genetic studies in families with mendelian inheritance of Parkinson's disease (PD) have reported the cloning of several disease-associated genes. These studies of rare familial forms of the disease have cast doubt on our understanding of the role of genetics in typical PD and have complicated the classification of the disorder. However, this genetic information might help us to construct a hypothesis for the pathogenetic processes that underlie PD. In this review we describe the molecular genetics of PD as currently understood to help explain the pathways that underlie neurodegeneration.

Heredodegenerative Disorders, Nervous System↗
PubMed2002

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.

We describe several families of African origin with SCA3/Machado-Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with parkinsonian signs to a syndrome clinically almost indistinguishable from idiopathic, L-dopa-responsive Parkinson's disease. In contrast, these parkinsonian phenotypes are rare in those of European descent. Haplotype analysis shows that these African families do not share a common founder, thus a cis-acting element in the promoter is unlikely to be responsible these unusual presentations. We suggest that trans-acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities.

Black or African American↗
PubMed2002

Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.

X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement disorders, including dystonia, tremor, parkinsonism, myoclonus, chorea, and myorhythmia. Because of overlapping features, Lubag patients are commonly misdiagnosed as idiopathic dystonia, essential tremor, Parkinson's disease, or Parkinson's-plus syndromes. Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder.

Adult↗
PubMed2002

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.

A novel presenilin 1 mutation, insR352, associated with a frontal temporal dementia phenotype has been identified (E. A. Rogaeva et al., 2001, Neurology 57, 621-625). This mutation does not increase Abeta42 levels, but instead acts as dominant negative presenilin, decreasing amyloid beta protein (Abeta) production by inhibiting gamma-secretase cleavage of the Abeta precursor. The distinct clinical phenotype associated with this mutation suggests that chronic partial inhibition of gamma-secretase activity may result in neurodegeneration.

Amyloid Precursor Protein Secretases↗
PubMedDate not supplied

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.

Adolescent↗
PubMedDate not supplied

A common LRRK2 mutation in idiopathic Parkinson's disease.

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease.

Adult↗