96 results on '"John P, Osborne"'
Search Results
52. THE UNITED KINGDOM INFANTILE SPASMS STUDY: NEURODEVELOPMENTAL OUTCOME AT 4.2 YEARS OF AGE
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Andrew L Lux, Stuart W Edwards, John P. Osborne, Fjk O'Callaghan, C.M. Verity, Eleanor Hancock, Anthony L. Johnson, K. Darke, Richard W Newton, and Colin R. Kennedy
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Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,General Medicine ,Psychiatry ,business ,Outcome (game theory) - Published
- 2006
53. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial
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John P. Osborne, Eleanor Hancock, Anthony L. Johnson, Richard W Newton, Colin R. Kennedy, Andrew L Lux, Christopher M Verity, Finbar O'Callaghan, and Stuart W Edwards
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Male ,Pediatrics ,medicine.medical_specialty ,Prednisolone ,Anti-Inflammatory Agents ,Vigabatrin ,law.invention ,Epilepsy ,Child Development ,Randomized controlled trial ,law ,Adaptation, Psychological ,Secondary Prevention ,Medicine ,Humans ,Intention-to-treat analysis ,business.industry ,Infant, Newborn ,Infant ,medicine.disease ,United Kingdom ,Clinical trial ,Treatment Outcome ,Seizure Disorders ,Etiology ,Disease Progression ,Cosyntropin ,Anticonvulsants ,Female ,Neurology (clinical) ,business ,Spasms, Infantile ,medicine.drug ,Hormone - Abstract
Summary Background Infantile spasms is a severe infantile seizure disorder that is difficult to treat and has a high morbidity. Absence of spasms on days 13 and 14 after randomisation is more common in infants allocated hormone treatments than in those allocated vigabatrin. We sought to assess whether early control of spasms is associated with improved developmental or epilepsy outcomes. Methods Infants enrolled in the United Kingdom Infantile Spasms Study (UKISS) were randomly assigned hormone treatment (n=55) or vigabatrin (n=52) and were followed up until clinical assessment at 12–14 months of age. We assessed neurodevelopment with the Vineland adaptive behaviour scales (VABS) at 14 months of age on an intention to treat basis. Findings Of 107 infants enrolled, five died and 101 survivors reached both follow-up assessments. Absence of spasms at final clinical assessment (hormone 41/55 [75%] vs vigabatrin 39/51 [76%]) was similar in each treatment group (difference 1·9%, 95% CI −18·3% to 14·4%; χ 2 =0·05; p=0·82). Mean VABS score did not differ significantly (hormone 78·6 [SD 16·8] vs vigabatrin 77·5 [SD 12·7]; difference 1·0, 95% CI −4·9 to 7·0; t 99 =0·35, p=0·73). In infants with no identified underlying aetiology, the mean VABS score was higher in those allocated hormone treatment than in those allocated vigabatrin (88·2 [17·3] vs 78·9 [14·3]; difference 9·3, 95% CI 1·2 to 17·3; t 95 =2·28, p=0·025). Interpretation Hormone treatment controls spasms better than does vigabatrin initially, but not at 12–14 months of age. Better initial control of spasms by hormone treatment in those with no identified underlying aetiology may lead to improved developmental outcome.
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- 2005
54. Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex
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Finbar O'Callaghan, John P. Osborne, and Eleanor Hancock
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Adult ,Male ,Sleep Wake Disorders ,Administration, Oral ,Antioxidants ,Melatonin ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Double-Blind Method ,Tuberous Sclerosis ,030225 pediatrics ,medicine ,Dose effect ,Humans ,Child ,Sleep disorder ,Seizure frequency ,Cross-Over Studies ,Dose-Response Relationship, Drug ,business.industry ,Infant ,medicine.disease ,Sleep time ,Sleep in non-human animals ,Crossover study ,Treatment Outcome ,Anesthesia ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex. Eight outpatients with tuberous sclerosis complex and sleep disorder received either 5 or 10 mg of melatonin. Sleep latency, total sleep time, number of awakenings, and seizure frequency were recorded in sleep and seizure diaries. No evidence of a dose effect between 5 and 10 mg was seen with respect to any outcome measure. (The 5 mg results are given first: sleep latency, 86 and 76 minutes; total sleep time, 8 hours, 57 minutes and 9 hours, 4 minutes; and sleep fragmentation, 0.8 and 1.0). This study might have missed a small beneficial effect of 10 mg melatonin. We propose that an initial trial of 5 mg melatonin is worth considering in patients with tuberous sclerosis complex and sleep disorder. ( J Child Neurol 2005;20:78—80).
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- 2005
55. The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial
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Christiopher M. Verity, Richard W Newton, Colin R. Kennedy, Andrew L Lux, John P. Osborne, Anthony L. Johnson, Finbar O'Callaghan, Eleanor Hancock, and Stuart W Edwards
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Male ,medicine.medical_specialty ,Pediatrics ,genetic structures ,medicine.drug_class ,medicine.medical_treatment ,Prednisolone ,Vigabatrin ,law.invention ,Randomized controlled trial ,law ,Medicine ,Humans ,Adverse effect ,Glucocorticoids ,Intention-to-treat analysis ,business.industry ,Infant, Newborn ,Electroencephalography ,General Medicine ,Clinical Science ,Surgery ,Clinical trial ,Anticonvulsant ,Corticosteroid ,Cosyntropin ,Anticonvulsants ,Female ,business ,Spasms, Infantile ,medicine.drug - Abstract
Summary Background Infantile spasms, which comprise a severe infantile seizure disorder, have a high morbidity and are difficult to treat. Hormonal treatments (adrenocorticotropic hormone and prednisolone) have been the main therapy for decades, although little evidence supports their use. Vigabatrin has been recorded to have a beneficial effect in this disorder. We aimed to compare the effects of vigabatrin with those of prednisolone and tetracosactide in the treatment of infantile spasms. Methods The United Kingdom Infantile Spasms Study assessed these treatments in a multicentre, randomised controlled trial in 150 hospitals in the UK. The primary outcome was cessation of spasms on days 13 and 14. Minimum doses were vigabatrin 100 mg/kg per day, oral prednisolone 40 mg per day, or intramuscular tetracosactide depot 0·5 mg (40 IU) on alternate days. Analysis was by intention to treat. Findings Of 208 infants screened and assessed, 107 were randomly assigned to vigabatrin (n=52) or hormonal treatments (prednisolone n=30, tetracosactide n=25). None was lost to follow-up. Proportions with no spasms on days 13 and 14 were: 40 (73%) of 55 infants assigned hormonal treatments (prednisolone 21/30 [70%], tetracosactide 19/25 [76%]) and 28 (54%) of 52 infants assigned vigabatrin (difference 19%, 95% CI 1%–36%, p=0·043). Two infants allocated tetracosactide and one allocated vigabatrin received prednisolone. Adverse events were reported in 30 (55%) of 55 infants on hormonal treatments and 28 (54%) of 52 infants on vigabatrin. No deaths were recorded. Interpretation Cessation of spasms was more likely in infants given hormonal treatments than those given vigabatrin. Adverse events were common with both treatments.
- Published
- 2004
56. Epilepsy related mortality
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Finbar O'Callaghan, John P. Osborne, and Christopher Martyn
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Clinical audit ,medicine.medical_specialty ,Pediatrics ,Time Factors ,Adolescent ,Controversy ,Audit ,Disease ,Officer ,Epilepsy ,Risk Factors ,Epidemiology ,Medicine ,Humans ,Child ,business.industry ,Public health ,Age Factors ,medicine.disease ,United Kingdom ,Family medicine ,Pediatrics, Perinatology and Child Health ,Anticonvulsants ,Death certificate ,Nervous System Diseases ,business - Abstract
A decreasing problem? The recent concept of sudden unexplained death in epilepsy (SUDEP) has made clinicians more aware of epilepsy related deaths. With the publication of the National Sentinel Clinical Audit of Epilepsy Related Death, the general public and the media became concerned at this apparently new phenomenon.1 The impact of this audit was such that the chief medical officer, Sir Liam Donaldson, vowed “to develop an action plan to reduce the level of preventable deaths from epilepsy within three months of publication of this report”.2 The Independent newspaper lamented the fact that “inadequate care by the NHS causes up to 500 deaths a year”.3 The Guardian health correspondent, in an article with the headline “NHS failings blamed for deaths among epileptics”, interpreted the report as saying that “about 400 people with epilepsy are dying each year because of failures in diagnosis, treatment and monitoring of the disease within the NHS”.4 An editorial in The Lancet , timed to coincide with publication of the audit, concluded that “poor epilepsy management results in a substantial number of potentially avoidable deaths”.5 Although the increased interest in patients with epilepsy is welcome, the excited media reaction to the report, at least where it concerns children, is misleading. It should be remembered that the audit was limited by small numbers and incomplete information. Of 81 deaths that occurred in children under the age of 18 years between September 1999 and August 2002 where epilepsy was judged to be the probable cause of death from examination of the death certificate, quality of general practice and hospital based care was investigated in only 22. It is foolhardy to make general statements about the care of children based on such small numbers and the report itself acknowledges that “an audit of epilepsy …
- Published
- 2004
57. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
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Christopher Martyn, John P. Osborne, Finbar O'Callaghan, Shelley Renowden, Carol Joinson, T Harris, MJ Noakes, Patrick Bolton, Alistair W Shiell, and D Presdee
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Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Adolescent ,Intelligence ,Central nervous system disease ,Tuberous sclerosis ,Epilepsy ,Tuberous Sclerosis ,medicine ,Humans ,Child ,Aged ,Cerebral Cortex ,Intelligence quotient ,business.industry ,Learning Disabilities ,fungi ,Wechsler Scales ,Wechsler Adult Intelligence Scale ,food and beverages ,Infant ,Infantile Spasm ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Surgery ,El Niño ,England ,Pediatrics, Perinatology and Child Health ,Etiology ,Original Article ,Female ,business ,Spasms, Infantile - Abstract
Background: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life. Aims: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms. Methods: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven’s matrices. Results: A total of 41 patients consented to have an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 had suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers.
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- 2004
58. How to be a regional advisor
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John P. Osborne
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Government ,Regional health authority ,Political science ,education ,Pediatrics, Perinatology and Child Health ,Northern ireland ,Public administration ,Representation (politics) - Abstract
Before agreeing to be put forward as a candidate for the post of regional advisor in paediatrics (RAP) to the Royal College of Physicians of London (RCP) and the British Paediatric Association (BPA) for the old Wessex regional health authority area, I tried to discover what the job would entail and how much time it would take. This paper should answer the question, but I was quite unprepared for the unbelievable change that was to come, due to government reforms and to the complementary revolution in postgraduate medical education. Adaptability is now an essential requirement for the RAP, but an interest in medical education and training is the essence of the post (see Tables 1 & 2). Regional advisers (RA) to the RCP were first created in 1969, but RAPs were first appointed in 1988 as part of the response of the RCP to the need to better represent Paediatric Physicians in England, Wales and Northern Ireland. Scotland has its own system of representation based on the two Scottish
- Published
- 1995
59. Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning
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John R.W. Yates, John P. Osborne, Dharini Jeganathan, Margaret Fox, Sue Povey, and Janet M. Young
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Untranslated region ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Candidate gene ,Positional cloning ,Nonsense mutation ,Biology ,medicine.disease_cause ,Tuberous Sclerosis Complex 1 Protein ,Exon ,Genetics ,medicine ,Humans ,Cloning, Molecular ,Gene ,3' Untranslated Regions ,Genetics (clinical) ,Alleles ,DNA Primers ,Mutation ,Base Sequence ,Reverse Transcriptase Polymerase Chain Reaction ,Tumor Suppressor Proteins ,Proteins ,Pedigree ,Codon, Nonsense ,RNA splicing ,RNA ,Female - Abstract
Many mRNAs carrying mutations that are predicted to encode a truncated protein are subject to a mechanism known as nonsense-mediated mRNA decay (NMD), which results in reduced levels of mutant transcript. Tuberous sclerosis (TSC), an autosomal dominant neurocutaneous disorder with mutations in either of two genes, TSC1 or TSC2, requires comprehensive screening of both genes for molecular diagnosis. Virtually all TSC1 mutations are predicted to truncate the protein product. Coding and newly identified 3′ untranslated region polymorphisms in TSC1 were used to develop a transcript imbalance assay to investigate TSC1 transcript levels in patients. This approach allowed the correct identification of six out of seven TSC1 patients tested blind from a panel of TSC1 and TSC2 patients, with no false positives. The extent of NMD in TSC1 was found to correlate with each individual mutation regardless of intra-familial variation in clinical features and with no strong evidence for positional bias. NMD in TSC1 was more pronounced in cultured cells than in RNA prepared directly from peripheral lymphocytes (in which novel splicing of exon 5 was observed). The advent of a dense SNP map of transcribed regions of the genome may allow a similar transcript imbalance assay in the assessment of candidate genes for diseases whose causes are still unknown.
- Published
- 2002
60. Lymphangioleiomyomatosis: a review of the literature
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E. Hancock and John P. Osborne
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Pulmonary and Respiratory Medicine ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pediatrics ,Lung Neoplasms ,Population ,LAM ,Asymptomatic ,Tuberous sclerosis ,Age Distribution ,Tuberous Sclerosis ,hemic and lymphatic diseases ,medicine ,Prevalence ,Humans ,Lymphangioleiomyomatosis ,Sex Distribution ,education ,Lymphangiomatosis ,education.field_of_study ,pulmonary lymphangioleiomyomatosis ,business.industry ,Incidence ,medicine.disease ,Surgery ,Natural history ,Pneumothorax ,Female ,medicine.symptom ,Age of onset ,business - Abstract
Lymphangioleiomyomatosis (LAM), characterized by alveolar smooth muscle proliferation and cystic destruction of lung parenchyma, can occur as a rare sporadic disease or as a complication of tuberous sclerosis (TSC). It is a cystic lung disease, usually generalized and progressive, may be extremely difficult to treat and has been considered to have a poor prognosis. It has almost exclusively been reported to present in women of childbearing age, most commonly with dyspnoea and pneumothorax. We reviewed the English literature from 1939 to 1997 for cases of LAM both with and without TSC, in order to document the prevalence, clinical features, investigations, treatment and outcome within and between these two groups. No study has yet determined the prevalence of LAM symptomatically within the general population, but it probably affects 1–3% of the TSC population. Patients with TSC often present with an insidious onset of dyspnoea whilst non-TSC patients present more commonly with acute breathlessness secondary to pneumothorax. Patients with TSC are also less likely to suffer from chylothorax. The age of onset of symptoms and of diagnosis are similar. LAM is rare in children and even less common in males in both groups. The natural course of LAM remains unclear and effect of treatment variable. Although symptomatic LAM is uncommon it causes a significant amount of morbidity and mortality both in the TSC and general population, but asymptomatic LAM is not uncommon in TSC. Further research is required to determine the natural history of this condition and to evaluate current treatment regimes.
- Published
- 2002
61. The treatment of West syndrome: a Cochrane review of the literature to December 2000
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Eleanor Hancock, John P. Osborne, and Phillip Milner
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medicine.medical_specialty ,Pediatrics ,Placebo ,Vigabatrin ,law.invention ,Epilepsy ,Developmental Neuroscience ,Randomized controlled trial ,Adrenocorticotropic Hormone ,law ,medicine ,Humans ,Psychiatry ,Randomized Controlled Trials as Topic ,Psychomotor learning ,Psychomotor retardation ,business.industry ,Seizure types ,Infant ,General Medicine ,medicine.disease ,Hypsarrhythmia ,Pediatrics, Perinatology and Child Health ,Anticonvulsants ,Neurology (clinical) ,medicine.symptom ,business ,Spasms, Infantile ,medicine.drug - Abstract
Background: West syndrome is an age dependant syndrome, which includes a peculiar type of epileptic seizure (infantile spasms), usually hypsarrhythmia and in the majority psychomotor retardation. Despite huge advances in medicine it still remains a poorly understood entity and although with newer imaging techniques we are more often able to elicit the underlying ‘causes’ of these spasms, still little is known about their pathophysiological basis and treatment remains problematic. Objectives: To compare the effects of single pharmaceutical therapies used to treat infantile spasms in terms of long-term psychomotor development, subsequent epilepsy, control of the spasms and side effects. Methods: A search of the central trials register of the Cochrane Epilepsy Group, medline database, embase database and the reference lists of all retrieved articles was undertaken. Correspondence with colleagues and drug companies and appeals at international conferences were also undertaken to try and discover unpublished data. All randomised controlled trials (RCTs) on the medical treatment of infantile spasms were included. Data was then extracted independently by the three reviewers and analysed using the RevMan software package. Main results: We found ten small RCTs on the pharmacological treatment of infantile spasms. No unpublished trials were discovered. These ten studies looked at just 335 patients treated with a total of eight different pharmaceutical agents. Overall methodology of the studies was poor, partly because of ethical dilemmas such as giving placebo injections to children. No study considered the effects of treatment on long-term psychomotor development or onset of other seizure types. One small study found vigabatrin to be more efficacious in stopping infantile spasms in a group of patients with tuberous sclerosis than hydrocortisone. One underpowered study showed a trend for vigabatrin to be more efficacious than placebo in stopping infantile spasms, another two equally underpowered studies suggested adrenocorticotrophic hormone (ACTH) to be more efficacious than low-dose prednisone. It was not possible to compare reduction in the number of spasms between the different treatments because of differences in methods of analysis. Overall, only nine patients were reported to have been withdrawn from the trial treatments due to side effects and two deaths were reported. Conclusions: There is still little evidence available on the optimum treatment for infantile spasms. Further trials with larger number of patients, and longer follow-up are required.
- Published
- 2001
62. Ophthalmic manifestations of tuberous sclerosis: a population based study
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Steven A Rowley, Finbar O'Callaghan, and John P. Osborne
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Adult ,Male ,Refractive error ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,Eye Diseases ,Eye disease ,Hamartoma ,Population ,Cellular and Molecular Neuroscience ,Tuberous sclerosis ,Depigmentation ,Retinal Diseases ,Tuberous Sclerosis ,Ophthalmology ,medicine ,Humans ,education ,Strabismus ,Child ,Retinoscopy ,Aged ,Hypopigmentation ,education.field_of_study ,medicine.diagnostic_test ,business.industry ,Middle Aged ,medicine.disease ,Refractive Errors ,Original articles - Clinical science ,Sensory Systems ,Child, Preschool ,Eyelid Diseases ,Female ,medicine.symptom ,business - Abstract
BACKGROUND/AIMS—Tuberous sclerosis complex (TSC) has retinal and non-retinal ophthalmic manifestations. This study was designed to determine the prevalence of the ophthalmic manifestations and of refractive errors in a population of patients with TSC. METHODS—179 patients identified were in a prevalence study of TSC in the south of England and 107 of these agreed to full ophthalmic examination which was successful in 100. Ophthalmic examination included examination of the eyelids, cover test, examination of the irides, dilation funduscopy using both direct and indirect ophthalmoscopy, and refraction using retinoscopy. Myopia was defined as a spherical equivalent +0.5D. RESULTS—Retinal hamartomas were seen in 44 of the 100 patients. The commonest morphological type of hamartoma seen was the flat, translucent lesion in 31 of the 44 patients (70%). The multinodular "mulberry" lesion was seen in 24 of the 44 patients (55%) and the transitional type lesion was seen in four of the 44 patients (9%). Punched out areas of retinal depigmentation were seen in 39 of the 100 patients but only six of 100 controls. 27% of eyes were myopic, 22% were hyperopic, and 27% had astigmatism >0.75D. Of the non-retinal findings, 39 patients had angiofibromas of the eyelids, five had non-paralytic strabismus, and three had colobomas. CONCLUSION—Apart from the higher prevalence of flat retinal hamartomas, the findings of this study compare closely with previous large clinic based series of TSC patients. Refractive findings were similar to previous studies of a similarly aged non-TSC population. This is the first series to document the statistically significant association of punched out chorioretinal depigmentation with TSC and the authors believe that it should be looked for as an aid to diagnosis.
- Published
- 2001
63. Non-penetrance in tuberous sclerosis
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M. W. Burley, Julian R. Sampson, D Jeganathan, Alistair C. Jones, John P. Osborne, Susan Povey, Finbar O'Callaghan, and Janet M. Young
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Male ,medicine.medical_specialty ,Pathology ,Genetic Counseling ,Penetrance ,Disease ,Risk Assessment ,Tuberous sclerosis ,Tuberous Sclerosis ,Tuberous Sclerosis Complex 2 Protein ,Medicine ,Humans ,business.industry ,Tumor Suppressor Proteins ,fungi ,food and beverages ,General Medicine ,Exons ,medicine.disease ,Dermatology ,Phenotype ,Pedigree ,Repressor Proteins ,Increased risk ,Mutation ,Female ,business - Abstract
As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or children of patients with tuberous sclerosis are thought to be at increased risk of having children with the disease. We report that the case of apparent non-penetrance that was previously described is the result of two independent tuberous-sclerosis mutations in the same family.
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- 2000
64. Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex
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John P. Osborne, Finbar O'Callaghan, and MJ Noakes
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Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pathology ,Angiomyolipoma ,Adolescent ,Biology ,Tuberous sclerosis ,Epilepsy ,Chromosome 16 ,Tuberous Sclerosis ,Internal medicine ,Genetics ,medicine ,Humans ,Stage (cooking) ,Letters to the Editor ,Child ,Genetics (clinical) ,Aged ,Aged, 80 and over ,Learning Disabilities ,Middle Aged ,medicine.disease ,Phenotype ,Kidney Neoplasms ,Endocrinology ,medicine.anatomical_structure ,Female ,TSC1 ,TSC2 ,Chromosomes, Human, Pair 16 - Abstract
Editor—Tuberous sclerosis complex (TSC) is a dominantly inherited disease of high penetrance, characterised pathologically by the presence of hamartomata in multiple organ systems. Well known clinical manifestations include epilepsy, learning difficulties, behavioural problems, and skin lesions. Many patients have renal lesions, usually angiomyolipomata (AML), which can cause clinical problems secondary to haemorrhage or by compression and replacement of healthy renal tissue, which rarely causes end stage renal failure.1 Cysts, polycystic renal disease, and renal carcinoma can also occur. Polycystic disease has an early onset clinically and is the result of large contiguous deletions on chromosome 16 affecting both the TSC2 gene and the gene for adult onset polycystic kidney disease.2Tuberous sclerosis complex exhibits genetic heterogeneity.3 Mutations in two recently identified genes, TSC1 at 9q34 and TSC2 at 16p13, each result in an apparently similar phenotype, although recent work has suggested that mutations in TSC2 may be associated with more severe …
- Published
- 2000
65. O5-4 The relationship between lead-time to treatment and subsequent development in infantile spasms
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F. O'Callaghan, Stuart W Edwards, John P. Osborne, Richard W Newton, Colin R. Kennedy, Andrew L Lux, A.L. Johnson, Eleanor Hancock, and C.M. Verity
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Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Neurology (clinical) ,General Medicine ,business ,Lead time - Published
- 2009
66. On the incidence of fits and mental retardation in tuberous sclerosis
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John P. Osborne, A. Fryer, and David Webb
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Adult ,Male ,Proband ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Skeletal survey ,Genetic counseling ,Disease ,Interviews as Topic ,Tuberous sclerosis ,Epilepsy ,Risk Factors ,Tuberous Sclerosis ,Intellectual Disability ,Genetics ,medicine ,Humans ,Child ,Genetics (clinical) ,business.industry ,Incidence ,Incidence (epidemiology) ,Infant ,food and beverages ,medicine.disease ,Pedigree ,England ,Child, Preschool ,Female ,Lifetime risk ,business ,Research Article - Abstract
OBJECTIVES--To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS--Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examined clinically and in many cases with cranial computerised tomography, renal ultrasound, and skeletal survey but not echocardiography. They provide an unbiased group of tuberous sclerosis patients and allow affected patients with normal intellect to be diagnosed. PATIENTS--Thirty-seven tuberous sclerosis families were ascertained and 26 patients born after the family proband were identified. RESULTS--Sixteen of these 26 patients suffered fits (62%) and 10 patients were mentally retarded (38%). CONCLUSIONS--A lower incidence of fits and mental retardation has been found in an unbiased sample of tuberous sclerosis patients. The lifetime risk for fits might be higher had we been able to follow the patients for longer. However, we believe these are more appropriate figures to use in genetic counselling for this disease.
- Published
- 1991
67. End-stage renal failure in adults with the tuberous sclerosis complex
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Christopher Kingswood, Eleanor Hancock, Antonia Clarke, and John P. Osborne
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Adult ,Male ,Risk ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pediatrics ,Adolescent ,medicine.medical_treatment ,urologic and male genital diseases ,Tuberous sclerosis ,Tuberous Sclerosis ,hemic and lymphatic diseases ,Surveys and Questionnaires ,Epidemiology ,medicine ,Humans ,Child ,neoplasms ,Transplantation ,Kidney ,business.industry ,Acute kidney injury ,Infant ,Acute Kidney Injury ,medicine.disease ,United Kingdom ,nervous system diseases ,Surgery ,medicine.anatomical_structure ,Nephrology ,Child, Preschool ,Female ,Hemodialysis ,Complication ,business ,Kidney disease - Abstract
Tuberous sclerosis (TSC) is a multisystem disorder encompassing a wide spectrum of pathological renal lesions. Renal involvement is commonly asymptomatic but can result in significant morbidity, and renal failure has been reported. The risk of renal failure in patients with TSC in the UK has not been defined.A survey of the 170 members of the European Dialysis and Transplant Association was carried out to identify and collect clinical information on patients with TSC in their renal replacement programme.Ten patients were identified as having end-stage renal failure (ESRF) and TSC, giving an incidence of 1% in patients with TSC and normal intellect. There was a wide spectrum of underlying pathology and clinical presentation within this group.ESRF is rare in TSC but does contribute to significant morbidity and mortality in this group.
- Published
- 1999
68. Use of melatonin to treat sleep disorders in tuberous sclerosis
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A A Clarke, A Hunt, Eleanor Hancock, Finbar O'Callaghan, and John P. Osborne
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Adult ,Male ,Sleep Wake Disorders ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Drug Administration Schedule ,Melatonin ,Tuberous sclerosis ,Developmental Neuroscience ,Double-Blind Method ,Tuberous Sclerosis ,Statistical significance ,Medicine ,Humans ,Wakefulness ,Sleep disorder ,Cross-Over Studies ,Dose-Response Relationship, Drug ,business.industry ,medicine.disease ,Sleep time ,Sleep in non-human animals ,Crossover study ,Anesthesia ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Sleep Stages ,Sleep onset ,business ,medicine.drug - Abstract
The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with confirmed diagnoses of tuberous sclerosis and significant sleep disorder were recruited. We employed three outcome measures: total sleep time, time to sleep onset, and number of awakenings. Patients treated with melatonin had a small but clinically significant improvement in total sleep time (mean improvement 0.55 hours, P
- Published
- 1999
69. Prevalence of tuberous sclerosis estimated by capture-recapture analysis
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Alistair W Shiell, Finbar O'Callaghan, John P. Osborne, and Christopher Martyn
- Subjects
education.field_of_study ,medicine.medical_specialty ,business.industry ,Maximum likelihood ,Genetic counseling ,Population ,General Medicine ,medicine.disease ,Mark and recapture ,Tuberous sclerosis ,England ,Tuberous Sclerosis ,Epidemiology ,Prevalence ,Medicine ,Hamartoma ,Humans ,Log-linear model ,business ,education ,Epidemiologic Methods ,Demography - Abstract
time. Unfortunately, in human populations these assumptions are frequently violated. The problem can be minimised by the use of techniques such as log-linear modelling but a high degree of accuracy in the estimate of numbers of missing cases should not be expected. We carried out a capture-recapture analysis of data collected in the survey of prevalence of tuberous sclerosis in Wessex. Cases had been identified from a large number of different sources. Data from these individual sources were pooled to construct three summary sources: cases identified by paediatricians; cases identified by other medical practitioners; and cases identified from other sources (for example, the Tuberous Sclerosis Association or Hospital Activity Analysis). We used the method described by Hook and Regal to first derive estimates for the total number of cases from each of the three possible two-source models and finally from all three sources. The figure shows the number of cases identified from each source and the overlap between sources. No cases were identified from all three sources. Maximum likelihood estimates are given for the total number of people with tuberous sclerosis in this population derived from each of the two-source models and from the three-source model. Dependency between sources was investigated by including terms for interaction between sources in the loglinear model; none of these terms was statistically significant. The Wessex survey originally identified 131 cases of tuberous sclerosis in a population of 3·4 million. The results of the capture-recapture analysis suggest that, despite the efforts of the investigators to locate all cases, more than half remained undetected. A revised estimate of prevalence, taking account of unascertained cases, is 8·8 per 100 000 population (95% CI 6·8–12·4). One implication is that many people with tuberous sclerosis do not receive either genetic counselling or specialist medical supervision.
- Published
- 1998
70. P242 – 1947 The natural history and traditional treatment outcomes of large renal angiomyolipmas in tuberous sclerosis complex
- Author
-
S. Amin, Jane Merrifield, John P. Osborne, L Robinson, and F. O'Callaghan
- Subjects
Natural history ,Tuberous sclerosis ,Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Treatment outcome ,Medicine ,Neurology (clinical) ,General Medicine ,business ,medicine.disease - Published
- 2013
71. Morbidity associated with tuberous sclerosis: a population study
- Author
-
David Webb, John P. Osborne, and A. Fryer
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Cohort Studies ,Tuberous sclerosis ,Developmental Neuroscience ,Seizures ,Tuberous Sclerosis ,medicine ,Prevalence ,Humans ,Sex Distribution ,Child ,Aged ,Gynecology ,business.industry ,Learning Disabilities ,Infant ,Middle Aged ,medicine.disease ,Cross-Sectional Studies ,England ,Child, Preschool ,Population Surveillance ,Pediatrics, Perinatology and Child Health ,Population study ,Female ,Neurology (clinical) ,Morbidity ,business - Abstract
SUMMARY Neurological complications and other causes of morbidity were studied in 122 of 131 individuals (64 males. 67 females) with tuberous sclerosis, in a population in which its prevalence was 1/26,500. Seizures occurred in 78 per cent, beginning at less than one year of age in 69 per cent (in more males than females in both cases) and after age 16 in 4 per cent. More males than females also had infantile spasms and persistent seizures. Learning disorder occurred in 53 per cent (also in more males), all with a history of seizures, and was strongly correlated with age at onset of seizures, type of seizure and outcome for seizure control. Of subjects with learning disorder. 85 per cent required supervision for daily living and 65 per cent had little or no language: 97 per cent were fully mobile. Hcmiparesis had occurred in eight of the 131, giant cell astrocytomas in nine, bilateral polycystic kidney disease in two. and haemorrhagic complication relating to renal angiomyolipomas in six. RESUME De la morbidite associee a la sclerose tubereuse: une etude de population. Les complications neurologiques et les autres causes de morbidite ont eteetudiees chez 122 parrni 131 patients (64 garcons, 67 filles) avec sclerose tubereuse. dans une population ou la prevalence etait de 1/26 500. II y avait des crises comitiales dans 78 pour cent des cas, debutant a un âge inferieur a un an dans 69 pour cent (avec plus de garcons que de filles clans les deux cas) et apres l'âge de 16 ans dans quatre pour cent. Egalement plus de garcons que de filles avaient presente des spasmes en flexion et des crises persistantes. Des troubles des apprentissages existaient dans 53 pour cent des cas (egalement plus frequents chez les garcons). tous avec un historique de crises et une forte correlation avec l'âge au debut des crises, le type des crises, et le devenir du controle de la comitialite. Parmi les sujets avec troubles d'apprentissage. 85 pour cent, exigeaient une surveillance constante pour la vie joumaliere et 65 pour cent avaient un langage peu developpe ou nul; 97 pour cent se deplacaient pleinemeni. Une hemiparesie etait presente dans huit des 131 cas, il y cu un astrocytome a cellules geantes dans neuf cas. des reins polykystiques bilateraux dans deux cas et des complications hemorragiques liees a une angiomyolipomatose renale dans six cas. ZUSAMMENFASSUNG Morbiditat bei tubetoser Hirnsklerose: cine Populalionssludie Bei 122 von 131 Patientcn (64 mannliche und 67 weibliche) mil tuberoser Hirnsklerose aus einer Population mil einer Haufigkeit von 1/26 500 wurden neurologische Komplikationen und andere Erkrankungsursachcn untersucht. Anfalle traten bei 78 Prozent auf, die bei 69 Prozent bereits im ersten Lebensjahr begannen (in beiden Fallen bei mehr Jungen als Madchen) und bei 4 Prozent nach dem 16. Lebensjahr. Auch bei den BNS Krampfen und den persistierenden Anfallsleiden war die Zahl der Jungen hoher als die der Madchen. Bei 53 Prozent fanden sich Lernstorungen (auch vorwiegend bei Jungen), allc hatten Anfalle in der Anamnese und es bestand eine enge Korrelation zum Alter bei Beginn der Anfalle, zur Art der Anfalle und zur Anfallskontrolle. Von den Patienten mit Lernproblemen brauchten 85 Prozent eine Betreuung im taglichen Leben und 65 Prozent konnten kaum oder gar nicht sprechen. 97 Prozent konnten sich uneingeschrankt bewegen. Acht der 131 Patienten hattcn einc Hcmiparese, neun eine bilateralc polyzystische Nierenerkrankung und sechs hamorrhagische Komplikationen in Verbindung mit renalen Angiomyelolipomen. RESUMEN Morbilidad asociada a esclerosis tiiberosa: estudio de poblacion. Se estudiaron las complicaciones neurologicas y otras causas de morbilidad en 122 de 131 individuos (64 varones y 67 hembras) con esclerosis tuberosa, en una poblacion en la que la prevalencia era de 1/26 500. Aparecieron convulsiones en el 78 por ciento iniciandose a menos de un ano de edad en el 69 por ciento (mas en varones que en hembras en ambos casos) y despues de los 16 en el 4 por ciento. Igualmcntc los espasmos infantiles y las convulsiones existentes se vieron mas en varones que en hembras. Alteraciones en el aprendizaje ocurrieron en el 53 por ciento (tambien mas en varones), todos con una historia de convulsiones y estaban fuertemente correlacionadas con la edad de inicio de las convulsiones, el tipo de convulsion y el curso del control de las mismas. De los individuos con alteraciones del aprendizaje, el 85 por ciento requirieron una supervision para su vida diaria y el 65 por ciento no tenian lenguaje o muy poco; el 97 por ciento tenian una movilidad completa. La hemiparesia estaba presente en ocho dc los 131 casos, astrocitomas de celulas gigantes en nueve, enfermedad poliquistica renal en dos y complicaciones hemorragicas en relation con angiomiolipomas de rinon en seis.
- Published
- 1996
72. Cardiac rhabdomyomas and their association with tuberous sclerosis
- Author
-
David Webb, R D Thomas, and John P. Osborne
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Population ,Rhabdomyoma ,Heart Neoplasms ,Tuberous sclerosis ,Tuberous Sclerosis ,Epidemiology ,Rhabdomyosarcoma ,medicine ,Humans ,education ,education.field_of_study ,business.industry ,Incidence (epidemiology) ,Myocardium ,fungi ,Infant, Newborn ,food and beverages ,Infant ,medicine.disease ,Surgery ,El Niño ,Echocardiography ,Heart failure ,Pediatrics, Perinatology and Child Health ,cardiovascular system ,Female ,business ,Research Article - Abstract
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.
- Published
- 1993
73. P201 The aetiology of infantile spasms: information from the United Kingdom Infantile Spasms Study (UKISS) using an adaptation of the paediatric classification from ICD 10
- Author
-
Richard W Newton, Colin R. Kennedy, C.M. Verity, A.L. Johnson, John P. Osborne, F. O'Callaghan, Stuart W Edwards, Andrew L Lux, and Eleanor Hancock
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Etiology ,Medicine ,ICD-10 ,Neurology (clinical) ,General Medicine ,business ,Adaptation (computer science) - Published
- 2009
74. Non-penetrance in tuberous sclerosis
- Author
-
DavidW Webb and John P. Osborne
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Genetic counseling ,Genetic Counseling ,Disease ,Recurrence risk ,Tuberous sclerosis ,Risk Factors ,Tuberous Sclerosis ,Genetics ,medicine ,Humans ,Risk factor ,Genetics (clinical) ,Great-grandson ,business.industry ,Genetic Carrier Screening ,Great-grandfather ,food and beverages ,medicine.disease ,Penetrance ,business ,Research Article - Abstract
Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This situation highlights the need for full investigation of children of tuberous sclerosis patients before counselling a low recurrence risk for the disease.
- Published
- 1991
75. Epidemiology of tuberous sclerosis
- Author
-
John P. Osborne, A. Fryer, and David Webb
- Subjects
medicine.medical_specialty ,Subependymal giant cell astrocytoma ,business.industry ,General Neuroscience ,MEDLINE ,Age Factors ,medicine.disease ,Dermatology ,General Biochemistry, Genetics and Molecular Biology ,Tuberous sclerosis protein ,Tuberous sclerosis ,History and Philosophy of Science ,England ,Tuberous Sclerosis ,Intellectual Disability ,Epidemiology ,medicine ,Humans ,business - Published
- 1991
76. Pitted enamel hypoplasia in tuberous sclerosis
- Author
-
John P. Osborne, Antonia Clarke, and David Webb
- Subjects
Pitted enamel ,Tuberous sclerosis ,Pathology ,medicine.medical_specialty ,business.industry ,Genetics ,Medicine ,business ,medicine.disease ,Genetics (clinical) ,Hypoplasia - Published
- 2008
77. The value of investigation for genetic counselling in tuberous sclerosis
- Author
-
A H Chalmers, A E Fryer, and John P. Osborne
- Subjects
Male ,medicine.medical_specialty ,Skeletal x rays ,Skeletal survey ,Genetic Linkage ,Genetic counseling ,Physical examination ,Genetic Counseling ,Kidney ,Tuberous sclerosis ,Tuberous Sclerosis ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Ultrasonography ,medicine.diagnostic_test ,business.industry ,Genetic Carrier Screening ,Renal ultrasound ,Brain ,Anatomy ,medicine.disease ,Occult ,Radiological weapon ,Female ,Radiology ,business ,Tomography, X-Ray Computed ,Research Article - Abstract
Forty sets of parents and 24 sibs of patients with tuberous sclerosis were investigated by an extensive protocol, including clinical examination of skin, hair, and oral cavity, direct and indirect ophthalmoscopy, cranial CT scan, renal ultrasound, and a radiological skeletal survey. None of the clinical examinations provided evidence that any of the subjects was affected. Similarly, the cranial CT scan, renal ultrasound, and skeletal survey failed to identify any occult gene carriers. All of these investigations showed abnormalities in some parents but none was diagnostic. This study shows the difficulties in interpretation that these investigations may produce with consequent problems for genetic counselling. The study does not support the routine use of these tests. There are published reports where the diagnosis of tuberous sclerosis has been made in adults exclusively on a CT scan and an argument can be made for including this investigation. There is no indication for performing renal ultrasound nor skeletal x rays in parents who have normal clinical examinations.
- Published
- 1990
78. Tuberous sclerosis and polycystic kidney disease
- Author
-
M. Super, I. C. S. Normand, David Webb, and John P. Osborne
- Subjects
Male ,Radiography, Abdominal ,Polycystic Kidney Diseases ,business.industry ,General Engineering ,Infant ,General Medicine ,Polycystic Kidney, Autosomal Dominant ,Diagnosis, Differential ,Tomography x ray computed ,Tuberous Sclerosis ,Child, Preschool ,Economic history ,Humans ,General Earth and Planetary Sciences ,Medicine ,Female ,Tomography, X-Ray Computed ,business ,Research Article ,General Environmental Science ,Corporate management - Abstract
1992-3, without a parallel increase in activity. Last year, providers' deadlines for issuing prices slipped several times, causing chaos to purchasers. East Birmingham's last contract was signed in August instead of the preceding March. The new regional edict is: "There are deadlines; we do not accept changes thereafter." Howard Shaw was less enthusiastic than his director of corporate management about the workings of the intemal market. "We're two months ahead of last year, but I'm not sure we've leamt that much. I don't think we've understood how to play the market, or even if the market's to be played because of the whole complexity of the system. We've got 20 units providing 50 specialties-for inpatients, day cases, and outpatients. There's a price and a volume for each of these, and you can have price and volume variance on all these contracts. So you've got this mass of data, and we can't make head or tail of it." His opinion was echoed by Robert Marriott. He did not think that you could decide at this stage whether the outcome of the reforms was good or bad. "Mostly it seems confusion-because of the demands being made on both purchasers and providers." Perhaps in a year's time things will be clearer.
- Published
- 1993
79. Revised guideline for prescribing vigabatrin in children
- Author
-
Anthony L. Johnson, Eleanor Hancock, Stuart W Edwards, John P. Osborne, Andrew L Lux, Richard W Newton, Finbar O'Callaghan, Colin R. Kennedy, and Christopher M Verity
- Subjects
medicine.medical_specialty ,genetic structures ,business.industry ,First line ,Rebuttal ,General Medicine ,Guideline ,Evidence-based medicine ,Infantile Spasm ,Adrenocorticotrophic hormone ,Vigabatrin ,First line treatment ,medicine ,Psychiatry ,business ,medicine.drug - Abstract
Editor—The Vigabatrin Paediatric Advisory Group, which in 1998 produced a guideline to “help clinicians when prescribing vigabatrin in children,” has now revised it.1,2 We, the steering committee of the United Kingdom infantile spasm study (UKISS), responded to the original guideline.3 Our opinion was that there is no evidence that vigabatrin is a better treatment of infantile spasms than hormonal treatments, such as prednisolone and synthetic adrenocorticotrophic hormone preparations. When we challenged the claim that vigabatrin is the drug of choice, the advisory group offered no rebuttal. Now the claim is stated again, without any appropriate new evidence being produced. Indeed, the finding that visual field losses attributable to vigabatrin occur in children as well as adults strengthens any challenge to the guideline's claim. We stand by our argument that no one has yet determined the best first line treatment for infantile spasms. To back our challenge we cited the one randomised trial that has compared vigabatrin and adrenocorticotrophic hormone; confidence intervals for this suggest that vigabatrin is unlikely to have a superior treatment effect.4 Also, we pointed to a lack of studies using neurodevelopmental outcome measures and to new and emerging information about the safety of vigabatrin. Our desire to gather reliable data is shared by many paediatricians and paediatric neurologists: consultants in over 140 health districts are helping our study to collect evidence about these treatments. Before clinicians can decide if any of the first line treatments for infantile spasms might reasonably be described as the drug of choice they will need to examine (when they become available) the results of studies such as the United Kingdom infantile spasm study.
- Published
- 2001
80. Panel Discussion I: Defining Clinical and Radiologic Criteria Required for the Definitive Diagnosis of Tuberous Sclerosis Complex
- Author
-
E. Steve Roach, O. Wayne Houser, Charles W. Shepherd, N. Paul Rosman, Manuel Gómez, and John P. Osborne
- Subjects
Tuberous sclerosis ,medicine.medical_specialty ,History and Philosophy of Science ,business.industry ,General Neuroscience ,medicine ,Physical therapy ,medicine.disease ,business ,Dermatology ,General Biochemistry, Genetics and Molecular Biology ,Panel discussion - Published
- 1991
81. 104 Learning difficulty and renal angiomyolipomata in tuberous sclerosis complex
- Author
-
T Harris, Finbar O'Callaghan, John P. Osborne, C Needham, MJ Noakes, and Patrick Bolton
- Subjects
Tuberous sclerosis ,Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,Learning disability ,medicine ,Neurology (clinical) ,General Medicine ,medicine.symptom ,medicine.disease ,business - Published
- 1999
82. Prevalence of tuberous sclerosis in UK
- Author
-
Finbar JK O'Callaghan, Alistair W Shiell, John P Osborne, and Christopher N Martyn
- Subjects
General Medicine - Published
- 1998
83. Re: Early Presentation of Tuberous Sclerosis as Bilateral Renal Cysts
- Author
-
David Webb, Antonia Clarke, and John P. Osborne
- Subjects
Tuberous sclerosis ,medicine.medical_specialty ,business.industry ,Renal cysts ,Urology ,MEDLINE ,Medicine ,Presentation (obstetrics) ,business ,medicine.disease ,Dermatology - Published
- 1995
84. 10 year review of cardiac tumours in childhood
- Author
-
John P. Osborne, David Webb, Antonia Clarke, and Rod Thomas
- Subjects
Pediatrics ,medicine.medical_specialty ,Heart neoplasms ,Tuberous sclerosis ,business.industry ,medicine ,Rhabdomyoma ,Cardiology and Cardiovascular Medicine ,medicine.disease ,business - Published
- 1994
85. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma
- Author
-
John P. Osborne and David Webb
- Subjects
Tuberous sclerosis ,Pediatrics ,medicine.medical_specialty ,Text mining ,business.industry ,Cardiac rhabdomyoma ,Incidence (epidemiology) ,Medicine ,In patient ,business ,medicine.disease ,Genetics (clinical) - Published
- 1992
86. INVESTIGATION OF SEXUAL ABUSE
- Author
-
J.A. Davis, Robert Roberts, P.T. Rudd, RobertG. Potter, John P. Osborne, Arnon Bentovim, A.R.R. Cain, and DavidV. James
- Subjects
medicine.medical_specialty ,Sexual abuse ,business.industry ,medicine ,Domestic violence ,General Medicine ,Psychiatry ,business ,Psychological abuse - Published
- 1987
87. EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9
- Author
-
A.D Yates, Susan Povey, John P. Osborne, I Fraser, A E Fryer, A H Chalmers, J.R.W Yates, and J. M. Connor
- Subjects
Male ,Genotype ,Genetic Linkage ,Chromosome 9 ,Biology ,Tuberous sclerosis ,Sex Factors ,Gene mapping ,Tuberous Sclerosis ,Genetic linkage ,Polymorphism (computer science) ,ABO blood group system ,medicine ,Humans ,Child ,Recombination, Genetic ,Genetics ,Polymorphism, Genetic ,Adenylate Kinase ,Chromosome Mapping ,General Medicine ,medicine.disease ,Tuberous sclerosis protein ,Genetic marker ,Blood Group Antigens ,Female ,Chromosomes, Human, Pair 9 - Abstract
Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.
- Published
- 1987
88. Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn
- Author
-
John P. Osborne, Alan Hill, and E. Gordon Murphy
- Subjects
musculoskeletal diseases ,Polyhydramnios ,Rib cage ,Neuromuscular disease ,business.industry ,Radiography ,Infant, Newborn ,Ribs ,Spinal muscular atrophy ,Anatomy ,musculoskeletal system ,medicine.disease ,Diagnosis, Differential ,Nemaline myopathy ,Developmental Neuroscience ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Myotonic Dystrophy ,Radiography, Thoracic ,Neurology (clinical) ,Differential diagnosis ,medicine.symptom ,business ,Myopathy - Abstract
The significance of thin ribs among 26 newborns diagnosed as having neuromuscular disease is discussed. 19 had a chest X-ray. Thin ribs were observed in three of seven with congenital myotonic dystrophy, in two of four with myotubular myopathy and in one of five with spinal muscular atrophy. The ribs were normal in one case of nemaline myopathy and two cases of non-specific myopathy. Polyhydramnios was recorded in four of the six cases with thin ribs. Ventilatory support frequently was required for these infants. The observation of thin ribs on X-ray is highly suggestive of neonatal neuromuscular disease, and is neither specific for nor invariable in congenital myotonic dystrophy.
- Published
- 1983
89. Examining the parents of children with tuberous sclerosis
- Author
-
A E Fryer, A H Chalmers, and John P. Osborne
- Subjects
Parents ,Pediatrics ,medicine.medical_specialty ,business.industry ,Genetic Carrier Screening ,Skull ,General Medicine ,medicine.disease ,Tuberous sclerosis ,Evaluation Studies as Topic ,Tuberous Sclerosis ,Medicine ,Humans ,business ,Child ,Tomography, X-Ray Computed - Published
- 1986
90. Multicentre trial of ethamsylate for prevention of periventricular haemorrhage in very low birthweight infants
- Author
-
R.W.I. Cooke, John P. Osborne, Christine Hayward, BrianD. Speidel, JohnW.T Benson, JaneF Schulte, MarkR Drayton, JohnF. Murphy, and JanetM. Rennie
- Subjects
Pediatrics ,medicine.medical_specialty ,medicine.medical_treatment ,Placebo ,Cerebral Ventricles ,Random Allocation ,Double-Blind Method ,Infant Mortality ,Medicine ,Humans ,Vitamin E ,Retinopathy of Prematurity ,Cerebral Hemorrhage ,Ultrasonography ,Treated group ,Chemotherapy ,Clinical Trials as Topic ,business.industry ,Benzenesulfonates ,Infant, Newborn ,Ethamsylate ,General Medicine ,Infant, Low Birth Weight ,Low birth weight ,Cranial ultrasound ,Multicenter study ,Recien nacido ,medicine.symptom ,business - Abstract
The effectiveness of ethamsylate in the prevention of periventricular haemorrhage (PVH) in very low birthweight infants was evaluated by means of a multicentre, placebo-controlled, double-blind trial. In 330 infants without evidence of PVH on initial cranial ultrasound examination there was little difference between ethamsylate and placebo groups with respect to subependymal haemorrhage, but intraventricular and parenchymal haemorrhages developed in 30/162 infants (18.5%) in the treated group, compared with 50/168 (29.8%) in the control group (p less than 0.02). The incidence of intraventricular and parenchymal haemorrhage in survivors was 20/137 (14.6%) in the ethamsylate group and 37/146 (25.3%) in the controls (p less than 0.05). In 30 infants with evidence of PVH on the initial scan, ethamsylate treatment seemed to limit parenchymal extension. Analysis of the total cohort of 360 infants showed that the proportion of infants in whom an increase of two or more grades of severity of PVH was recorded during the trial was lower in the treated than in the placebo group (p less than 0.01). No adverse effects were attributed to ethamsylate therapy. The reported incidence of patent ductus arterious was lower in the treated than in the placebo group (p less than 0.02). Mortality was similar in the two groups.
- Published
- 1986
91. Diagnosis of tuberous sclerosis
- Author
-
John P. Osborne
- Subjects
Pathology ,medicine.medical_specialty ,Eye Diseases ,Heart Diseases ,business.industry ,medicine.disease ,Tuberous sclerosis ,Text mining ,Tuberous Sclerosis ,Pediatrics, Perinatology and Child Health ,Medicine ,Humans ,Nervous System Diseases ,business ,Research Article - Published
- 1988
92. GENETIC RECOMBINATION BETWEEN TUBEROUS SCLEROSIS AND ONCOGENE v-abl
- Author
-
L.I. Al-Gazali, A.E. Fryer, R. Mueller, M. W. Burley, Susan Povey, and John P. Osborne
- Subjects
Recombination, Genetic ,ABL ,Oncogene ,Oncogene Proteins, Viral ,General Medicine ,Biology ,medicine.disease ,Genetic recombination ,Viral Proteins ,Tuberous sclerosis ,Pregnancy ,Tuberous Sclerosis ,Prenatal Diagnosis ,medicine ,Cancer research ,Humans ,Female - Published
- 1988
93. Non-accidental poisoning and child abuse
- Author
-
John P. Osborne
- Subjects
Child abuse ,medicine.medical_specialty ,business.industry ,Correspondence ,General Engineering ,General Earth and Planetary Sciences ,Medicine ,General Medicine ,Accidental poisoning ,business ,Bioinformatics ,Psychiatry ,General Environmental Science - Published
- 1976
94. Book Review: Intensive Care in the Newborn
- Author
-
John P Osborne
- Subjects
World Wide Web ,Text mining ,Computer science ,business.industry ,Intensive care ,business ,Data science - Published
- 1977
95. DNA TYPING OF GENITAL WARTS AND DIAGNOSIS OF SEXUAL ABUSE IN CHILDREN
- Author
-
John P. Osborne and RobertG. Potter
- Subjects
medicine.medical_specialty ,business.industry ,Sexually Transmitted Diseases ,Human factors and ergonomics ,Poison control ,Child Abuse, Sexual ,General Medicine ,medicine.disease ,Suicide prevention ,Occupational safety and health ,Genital warts ,Sexual abuse ,Family medicine ,Injury prevention ,Humans ,Medicine ,Medical emergency ,Typing ,Warts ,Child ,business - Published
- 1987
96. Are isolated maternity units run by general practitioners dangerous?
- Author
-
John P. Osborne
- Subjects
World Wide Web ,business.industry ,Correspondence ,General Engineering ,Humans ,General Earth and Planetary Sciences ,Medicine ,Maternal Health Services ,General Medicine ,Family Practice ,business ,General Environmental Science - Published
- 1987
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