{"title":"Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971.","authors":"M G Beasley, P M Costello, I Smith","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Intellectual status at 18 years is reported in 192 patients with phenylketonuria born in the UK between 1964 and 1971, together with their school progress. Mean IQs expressed as standard deviation scores (IQ-SDS) were significantly below estimated population norms, and showed a small decrease from 14 to 18 years of age (mean IQ-SDS -1.06 +/- 1.3 at 14 years and -1.28 +/- 1.07 at 18 years, t = 5.7, p < 0.0001). At 18 years, 27% of subjects had IQs over 2 SDs below the estimated population mean. IQ-SDS at 18 years, although significantly related to average phenylalanine control both between birth and 14 years, and between 14 and 18 years, was not independently related to either variable after allowing for IQ-SDS at 14 years. We conclude that general ability in young adults with early treated phenylketonuria, although reduced in comparison with their peers and closely related to phenylalanine control in early childhood, is not directly influenced by phenylalanine control in the four years preceding the 18th birthday. The apparent fall in IQ-SDS between 14 and 18 years may be due to methodological problems in the analysis of longitudinal IQ data without a control group, rather than providing evidence of intellectual decline.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 3","pages":"155-60"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19198848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M Sharpe, R Mayou, V Seagroatt, C Surawy, H Warwick, C Bulstrode, R Dawber, D Lane
{"title":"Why do doctors find some patients difficult to help?","authors":"M Sharpe, R Mayou, V Seagroatt, C Surawy, H Warwick, C Bulstrode, R Dawber, D Lane","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Almost all doctors encounter difficulties in managing some patients. Previous studies have examined the characteristics of such patients: we have additionally studied the reasons why hospital doctors find these patients 'difficult to help'. Three clinics (two medical and one surgical) were studied. The consultants rated 60 (22%) of 293 attenders s severely or extremely difficult to help. Difficulty was associated with greater patient distress (odds ratio 3.9; 95% CI 2.0-7.7), less patient satisfaction (2.6; 1.3-5.0) and chronic attendance (5.0; 1.4-17.3). An interview study of 40 'difficult' patients indicated that doctors considered psycho-social factors more important in difficult patients (3.2; 1.3-7.7). Objective differences between the doctor's and the patient's aims for care also occurred more frequently for difficult patients (2.8; 1.1-7.2). Three common types of difficulty were identified; medically unexplained symptoms; co-existing social problems; and severe untreatable illness. A review of the management aims for patients whom doctors find 'difficult to help', combined with improved access to psycho-social care, could improve both the quality and the cost-effectiveness of hospital out-patient services.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 3","pages":"187-93"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19200208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Sharpe, R. Mayou, V. Seagroatt, C. Surawy, H. Warwick, C. Bulstrode, R. Dawber, D. Lane
{"title":"Why do doctors find some patients difficult to help?","authors":"M. Sharpe, R. Mayou, V. Seagroatt, C. Surawy, H. Warwick, C. Bulstrode, R. Dawber, D. Lane","doi":"10.1093/OXFORDJOURNALS.QJMED.A068914","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068914","url":null,"abstract":"Almost all doctors encounter difficulties in managing some patients. Previous studies have examined the characteristics of such patients: we have additionally studied the reasons why hospital doctors find these patients 'difficult to help'. Three clinics (two medical and one surgical) were studied. The consultants rated 60 (22%) of 293 attenders s severely or extremely difficult to help. Difficulty was associated with greater patient distress (odds ratio 3.9; 95% CI 2.0-7.7), less patient satisfaction (2.6; 1.3-5.0) and chronic attendance (5.0; 1.4-17.3). An interview study of 40 'difficult' patients indicated that doctors considered psycho-social factors more important in difficult patients (3.2; 1.3-7.7). Objective differences between the doctor's and the patient's aims for care also occurred more frequently for difficult patients (2.8; 1.1-7.2). Three common types of difficulty were identified; medically unexplained symptoms; co-existing social problems; and severe untreatable illness. A review of the management aims for patients whom doctors find 'difficult to help', combined with improved access to psycho-social care, could improve both the quality and the cost-effectiveness of hospital out-patient services.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"40 1","pages":"187-93"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068914","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61292641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Raashid Luqmani, Paul A. Bacon, M. Beaman, Dgi Scott, Paul Emery, S. J. Lee, A. J. Howie, N. Richards, J. Michael, D. Adu
{"title":"Classical versus non-renal Wegener's granulomatosis.","authors":"Raashid Luqmani, Paul A. Bacon, M. Beaman, Dgi Scott, Paul Emery, S. J. Lee, A. J. Howie, N. Richards, J. Michael, D. Adu","doi":"10.1093/OXFORDJOURNALS.QJMED.A068911","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068911","url":null,"abstract":"We investigated whether 'limited' or 'non-renal' Wegener's granulomatosis (WG) differs from classical or 'renal' WG. Renal WG is characterized by necrotizing granulomatosis of the upper and or lower respiratory tract, accompanied by systemic vasculitis and focal segmental necrotizing glomerulonephritis. This last feature is absent in non-renal WG. In a prospective follow-up study of all identified cases presenting to a single teaching hospital, we reviewed 22 patients with non-renal WG, and compared their presentation and outcome with that of 28 patients with renal WG. Clinical and laboratory assessment of disease activity, frequency of death, relapse and end-stage renal disease were assessed. The two groups differed in clinical presentation, laboratory features and outcome. The group with non-renal WG had less cutaneous and pulmonary disease; the haemoglobin, white cell count and platelet count tended to be normal. Residual mortality was confined to the renal group. However, the groups shared many features, particularly their requirement for immunosuppressive therapy, since WG causes major tissue destruction regardless of whether it is a localized or widespread process. At the immunopathological level, the two groups appear to be part of a single disease spectrum. Importantly, the non-renal WG group may change the pattern of their disease to involve the kidney. Long-term follow-up of such patients is therefore essential.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"11 1","pages":"161-7"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068911","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61292562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Left ventricular diastolic dysfunction.","authors":"P. Clarkson, N. Wheeldon, T. MacDonald","doi":"10.1093/OXFORDJOURNALS.QJMED.A068908","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068908","url":null,"abstract":"Diastolic heart failure is common, particularly in patients with coronary artery disease and hypertension. Although it does not contribute to heart failure mortality to the same degree as systolic dysfunction, it is responsible for significant morbidity. Clinical suspicion is a prerequisite to the diagnosis, which should be considered in all patients with exercise intolerance due to dyspnoea, particularly if associated with a history of ischaemic heart disease or hypertension. Although invasive haemodynamic studies are the gold standard investigation, this method of assessment is limited to a very small proportion of these patients, and echocardiography remains the single most useful investigation. It is important to realize that the management of diastolic heart disease depends to a large extent on the aetiology, which contrasts with the treatment of systolic dysfunction. As indicated, a wide variety of different drugs may potentially be of benefit, although considerable further research will be needed to more clearly define this heterogenous condition and its optimal treatment.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 3 1","pages":"143-8"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068908","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61292419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Gallacher, C. Deighan, A. Wallace, R. Cowan, W. Fraser, J. Fenner, G. Lowe, I. Boyle
{"title":"Association of severe haemophilia A with osteoporosis: a densitometric and biochemical study.","authors":"S. Gallacher, C. Deighan, A. Wallace, R. Cowan, W. Fraser, J. Fenner, G. Lowe, I. Boyle","doi":"10.1093/OXFORDJOURNALS.QJMED.A068913","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068913","url":null,"abstract":"Following a femoral neck fracture and vertebral compression fractures in two patients with severe haemophilia A, bone density and turnover were measured in 19 males with severe haemophilia A (all HIV negative, 18/19 hepatitis C antibody positive) and in 19 age/sex matched controls. Bone density at the lumbar spine (L2-4), measured by dual energy X-ray absorptiometry, was significantly lower in the haemophiliac patients (HPs) at (mean +/- SEM) 1.109 +/- 0.042 g/cm2 vs. 1.234 +/- 0.027 in controls; p = 0.018. Femoral neck density was also lower at 0.877 +/- 0.034 g/cm2 (HPs) vs. 1.067 +/- 0.032; p < 0.0005. No significant differences were evident between the groups for serum calcium, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone or 1,25 dihydroxyvitamin D3, nor for fasting urinary hydroxyproline, pyridinoline or deoxypyridinoline excretion. Serum total alkaline phosphatases was elevated in HPs at 200 +/- 10 U/l vs. 158 +/- 8; p = 0.004. Similarly, gamma-glutamyl transferase was elevated at 42 +/- 7 U/l (HPs) vs. 20 +/- 2; p = 0.007. Serum total testosterone and sex-hormone-binding globulin (SHBG) were higher in HPs at 26 +/- 2.5 nmol/l vs. 17.4 +/- 1.6 (p = 0.009) and 56 +/- 6 nmol/l vs. 27 +/- 3 (p = 0.0005), respectively. Free androgen index, however, was lower in HPs at 44 +/- 5 vs 69 +/- 7; p = 0.008. These results suggest significant osteopenia associated with haemophilia A. This may be partly due to liver dysfunction in HPs, but other factors, e.g. relative immobilization, may also be relevant.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 3 1","pages":"181-6"},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068913","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61292572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Wright, A. Flapan, F. Stenhouse, C. Simpson, L. Flint, N. Boon, K. Alberti, R. A. Reimersma, K. Fox
{"title":"Hyperinsulinaemia in ischaemic heart disease: the importance of myocardial infarction and left ventricular function.","authors":"R. Wright, A. Flapan, F. Stenhouse, C. Simpson, L. Flint, N. Boon, K. Alberti, R. A. Reimersma, K. Fox","doi":"10.1093/OXFORDJOURNALS.QJMED.A068901","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068901","url":null,"abstract":"Elevated circulating insulin levels have been reported in ischaemic heart disease, and may be of aetiological importance. Previous studies have not considered the potential influence of heart failure or of previous myocardial infarction, as opposed to stable angina. We therefore measured the insulin response to a 75 g oral glucose tolerance test in five groups with normal glucose tolerance, comparing normal male controls to men with chronic stable angina, men with recent myocardial infarction (two groups, 3 weeks and 3 months post infarction), and men with chronic severe heart failure. Only patients with chronic heart failure had fasting hyperinsulinaemia, probably reflecting associated neuroendocrine abnormalities. Stimulated hyperinsulinaemia was present in all patient groups, but was less pronounced and of shorter duration in patients with angina. At 120 min, only patients with heart failure or previous myocardial infarction were hyperinsulinaemic. The degree of stimulated hyperinsulinaemia was not influenced by the presence of heart failure or by the length of time from infarction. Hyperinsulinaemia is associated with impaired peripheral muscle glucose uptake and metabolism, and might contribute to muscular fatigue on exertion in patients with previous myocardial infarction or heart failure.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 2 1","pages":"131-8"},"PeriodicalIF":0.0,"publicationDate":"1994-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068901","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61292319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J G Morris, P Grattan-Smith, P K Panegyres, P O'Neill, Y S Soo, A O Langlands
{"title":"Delayed cerebral radiation necrosis.","authors":"J G Morris, P Grattan-Smith, P K Panegyres, P O'Neill, Y S Soo, A O Langlands","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The clinical features and long-term outcome of seven patients with delayed cerebral radiation necrosis (DCRN) are described. Radiotherapy had been given for pituitary tumour (1), astrocytoma (2), pinealoma (2), craniopharyngioma (1) and parotid carcinoma (1). The mean latency to onset of the first neurological symptoms was 22 months (range 6-40 months), and mean duration of follow-up was 86 months (range 60-126). Three patients died at a mean of 84 months after radiotherapy (range 62-98). A fourth patient probably died from metastatic disease. Three patients remain alive, albeit severely disabled, after 5-10 years. The illness typically ran a stepwise course, with fits and stroke-like episodes occurring against a background of progressive dementia and somnolence. CT and MRI scans showed progressive ventricular dilatation associated with cerebral atrophy and diffuse or focal changes in the white matter. Four patients had had two or more neurosurgical procedures after the radiotherapy. In only one of the seven patients was the diagnosis made at presentation. DCRN produces a distinctive clinical picture, yet remains a poorly recognized complication of cranial irradiation.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 2","pages":"119-29"},"PeriodicalIF":0.0,"publicationDate":"1994-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19144061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Postinfectious glomerulonephritis--is there a link to alcoholism?","authors":"C K Keller, K Andrassy, R Waldherr, E Ritz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>From January 1984 to May 1993, we observed 30 cases of postinfectious glomerulonephritis (GN)--endocapillary, exudative GN with humps (23 males, 7 females; median age 49 years; range 17-77). They represented 4.5% of all renal biopsies. Crescents were present in 9/26 who had renal biopsies (35%) and there was a mesangioproliferative pattern in 14 (54%). Seventeen of the 30 patients (57%) were alcoholics by history and biochemistry. Cirrhosis was present in 8/17 (47%), but alcoholic hepatitis in none. Nine of the 17 alcoholic (53%) but none of the non-alcoholic patients developed chronic renal failure. Adverse renal prognosis was significantly correlated to alcoholism. We conclude that (i) alcoholism is common in patients with postinfectious GN, and, (ii) alcoholism adversely affects renal prognosis in patients with postinfectious GN.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 2","pages":"97-102"},"PeriodicalIF":0.0,"publicationDate":"1994-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19144705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}