Patients In Northern Ireland Research Articles

Clinical Features Associated with a Delayed Diagnosis of Cystic Fibrosis

Background: The majority of patients with cystic fibrosis (CF) are diagnosed in the first decade of life. In a small number of patients, the diagnosis is not made until later. Objective: In this study, the clinical and genetic features of patients diagnosed after the age of 10 were examined. Methods: All living patients in Northern Ireland diagnosed prior to 1983, when neonatal screening was introduced, were studied. A total of 103 patients were identified of whom 18 were diagnosed after the age of 10. The relationships between late diagnosis and clinical presentation, sputum microbiology, pancreatic sufficiency, nutritional status, genotype and distance from the regional CF centres was determined by multiple regression analysis. Results: All 18 late-diagnosed patients had a sweat (chloride >70 mmol/l). Late diagnosis was significantly related to carriage of the R117H mutation (r² = 0.45) and pancreatic sufficiency (r² = 0.37). There was a weak relationship with pulmonary function (r² = 0.09). Conclusions: In Northern Ireland, late diagnosis in mainly associated with pancreatic function and carriage of the R117H mutation.

A Neurological Evaluation of Adult Phenylketonuria in Northern Ireland

To investigate the extent of neurological disease in adults with phenylketonuria and also their requirement for specialist medical services, we assessed 27 such patients in Northern Ireland. Most had been diagnosed early and with one exception had dietary relaxation by early adolescence. Abnormal neurological features were elicited in 21/27 cases with significant delay of visual evoked potentials and somatosensory evoked potentials occurring in 63.6 and 13.6% of cases respectively. Periventricular white matter abnormalities were observed in 5/12 patients undergoing magnetic resonance imaging, whilst phenylalanine levels were high (mean 1,226 µmol/l). These data accord with the observation that even early treated patients with phenylketonuria can have significant neurological morbidity in adulthood, although the correlation with current or recent dietary control is unclear and requires further study.

A 3- to 6-year follow-up of former long-stay psychiatric patients in Northern Ireland.

Little is known about the first patients who left hospital before and during the official implementation of the hospital discharge policy in Northern Ireland. This study describes patterns of residential provision for former long-stay patients (approximately two-thirds of whom had an ICD-9 diagnosis of schizophrenia) discharged from the six major psychiatric hospitals in Northern Ireland between 1987 and 1990 (n = 321). It also employs several instruments within a retrospective survey design to examine outcomes for a 35% sample of people (112/321) discharged between 1997 and 1990 and followed up in 1993. Almost two-thirds (61%) had been discharged to independent living or low-staffed statutory settings. None of the group was homeless, one person was in prison and three people had committed suicide during the first 2 years after discharged. Almost one-third had to be re-admitted at some stage during the 6-year period and 13% had died. 'Moderate' to 'major problems' with most daily living skills were reported for less than 25% of people, while 15% or less had problem behaviour. Approximately 90% or more were satisfied with most aspects of their new homes and most also reported feeling happier (77%), healthier (63%) and more independent (78%) since discharge. However, social, recreational and occupational opportunities were limited. Purchasers, providers and practitioners need to review ways in which former long-stay patients might be empowered to live more meaningful and integrated lives in the community, particularly as the current government strategy for health and social well-being (1997-2002) in Northern Ireland points to the closure of existing psychiatric hospitals.

Risks and benefits of coronary angioplasty: the patients perspective: a preliminary study.

OBJECTIVES: To describe what cardiac patients in Northern Ireland understand to be the benefits of coronary angioplasty and assess the extent to which they have been able to make informed...

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis

Up to 10% of newborn children with a positive Guthrie test have non-phenylketonuria hyperphenylalaninaemia, i.e., mild elevation of serum phenylalanine that does not require dietary treatment. Depending on the relative frequencies of different phenylalanine hydroxylase mutations in a particular population, non-PKU HPA is usually caused by the combined effect of a mild HPA mutation and a severe PKU mutation. Presented here is a comprehensive analysis of non-PKU HPA in Northern Ireland. Of particular interest is one prevalent HPA mutation (T380M), which is present in over 70% of non-PKU HPA patients in Northern Ireland. Screening for this mutation is easy and inexpensive and can help confirm the diagnosis of non-PKU hyperphenylalaninaemia in the majority of cases at a very early stage. This may be clinically useful and reassuring for the parents. Other mutations described are V245A, L194P, and E390G.

Prevalence of gallstones in patients with erythropoietic protoporphyria in Northern Ireland

AbstractErythropoietic protoporphyria (EPP) is characterized by increased red cell protoporphyrins, which are excreted solely in the bile. Since gallstones are thought to be more prevalent in EPP, all 17 patients in Northern Ireland known to have EPP had abdominal ultrasound scanning and tests of liver function. Asymptomatic gallstones were detected in one patient, an 11‐year‐old girl. Liver function was normal in all patients.

HLA-DR and -DQ DNA genotyping in multiple sclerosis patients in Northern Ireland

DNA from multiple sclerosis (MS) patients and healthy control individuals from the Northern Ireland population, was assessed by restriction fragment length polymorphism (RFLP) analysis to look for disease-associated polymorphisms. HLA-DR and -DQ allogenotyping was performed using a single enzyme (TaqI)/Multiple probe system. The TaqI/DRß RFLPs correlate well with serologically defined specificities and in addition detect further subtypes of these associated with DQ or Dw specificities. The results confirm an association of MS with DRß15 and show a decreased frequency of DRß4 in the patients. An increased frequency of DRß17 in patients negative for DRß15 was also found. There is a decrease in the frequency of the TaqI/DQß3 (TA10 + ve) RFLP and the TaqI/DQα2LL genotype in the MS patients, these not being associated with DRß15. In addition RFLP analysis of the DPA1 and DPB1 genes reveals an MspI/DPß 3.0-kb fragment which occurs at a higher frequency in the patients than in the controls.

Erythropoietic protoporphyria. The problem of a suitable screening test.

Erythropoietic protoporphyria (EPP) is characterized by increased red cell protoporphyrins and is included in the differential diagnosis of children presenting with photosensitivity. In the past 20 years, using the traditional solvent extraction qualitative screening test for blood porphyrins, the diagnosis of EPP had been missed in 9 out of 10 patients but recently, using fluorescence microscopy of erythrocytes, no patients with EPP have been missed. All 14 patients in Northern Ireland known to have EPP were recalled and it was found that fluorescence microscopic determination was positive in all cases. We recommend fluorescence microscopy as the screening test of choice for the detection of increased red cell porphyrins.

Antibodies to Epstein-Barr virus in patients with nasopharyngeal carcinoma in Northern Ireland.

Patients in Northern Ireland with nasopharyngeal carcinoma (NPC) were investigated for evidence of Epstein-Barr virus infection. Eight out of 9 patients with NPC, plus one additional patient with a hypopharyngeal carcinoma, demonstrated serological evidence of EBV infection.

Socio-economic conditions of tuberculous patients in Northern Ireland

Summary o (1) The results of a survey of social and environmental circumstances of a group of tuberculous patients in Northern Ireland are reported. In all, 328 patients were investigated out of a total of 400 originally selected. (2) The majority of the patients resided in separate tenanted houses. (3) Approximately 17 per cent of the houses were in a bad state of repair. (4) Unsatisfactory lighting and/or ventilation occurred in just over 8 per cent of the cases. (5) All the houses in Belfast had a water supply in the house or yard; the corresponding percentage for the rest of the Province was 62·1 per cent. (6) The average number of persons in the families visited was 4·7 persons. (7) A separate bedroom for the patient was available in 133 (40·5 per cent) instances. A further 138 (42·1 per cent) shared the bedroom with one adult. The remainder either shared the bedroom with one or more children and/or two or more adults. (8) 162 (49·4 per cent) patients slept in a separate bed, 149 (45·4 per cent) shared the bed with one adult, and the remainder shared the bed with one or more children. (9) In 57 (17·4 per cent) cases, there was more than one patient in the household. (10) It is believed that a certain degree of poverty exists especially in households where the patient is head of the family and is out of work. The actual extent of the prevailing poverty cannot be measured by the present survey, but it is suggested that the subject should be investigated more closely.