Alpha-1 anti-trypsin (A1AT) deficiency is an inherited enzyme deficiency that manifests with fatal lung and liver complications. In addition to pulmonary and hepatic involvement, the disease has also been linked to an...Alpha-1 anti-trypsin (A1AT) deficiency is an inherited enzyme deficiency that manifests with fatal lung and liver complications. In addition to pulmonary and hepatic involvement, the disease has also been linked to an increased incidence of vasculitic syndromes and autoimmune diseases, including Wegener’s granulomatosis, microscopic polyarteritis nodosa and Henoch-Schnlein purpura (HSP). HSP, a systemic, small-vessel vasculitis syndrome, is characterized by a non-thrombocytopaenic purpuric rash,arthralgia,abdominal pain and nephritis. Both A1AT deficiency and HSP have been associated with antineutrophil cytoplasmic antibodies(ANCA)andanti-endothelial cell antibodies (AECA). We report a case of a 40-year-old man with severe A1AT deficiency, who developed HSP associated with AECA, ANCA and anti-phospholipid antibodies of the immunoglobulin-A isotype.展开更多
Background: The incidence of cutaneous malignant melanoma has been rising ste adily in Caucasian populations for several decades, with a doubling time of 10- 14 years. An increase in incidence of about 5% per year has...Background: The incidence of cutaneous malignant melanoma has been rising ste adily in Caucasian populations for several decades, with a doubling time of 10- 14 years. An increase in incidence of about 5% per year has been reported in most Caucasian populations since the early 1960s. Objectives: This study was des igned to determine the changing incidence of primary cutaneous malignant melanom a in Northern Ireland and to examine changes in survival rates from cutaneous ma lignant melanoma in two 5- year periods, 1984- 88 and 1994- 98. Methods: One thousand three hundred and twenty-six patients with invasive primary cutaneous melanoma were included in the study. Results: The age standardized rate of mela noma rose from 4- 3 per 100 000 population per year in men and 8.6 per 100 000 population per year in women to 7.7 and 11.8, respectively, p er 100 000 population per year in the 1994- 98 period. Overall, the absolute 5 - year survival for the 1984- 88 period was 71.0% (95% confidence interval (CI) 66.9- 75.1% ) and 77.4% (95% CI 73.4- 81.4% ) for the 1994- 98 pe riod. Women consistently showed better survival at all ages and within almost al l categories of thickness of primary tumour. Younger patients of both sexes show ed better survival rates. Conclusions: When survival rates between the 1984- 88 and 1994- 98 periods were compared using multivariate analysis, we found that patients diagnosed in the second period had a one-third lower risk of dying th an those in the earlier period. Much of this reduction was explained by changes in the number of melanomas of thin Breslow depth and ulcerated melanomas.展开更多
Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland...Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland. Methods: An audit of the care provided to all patients attending 11 paediatric diabetes clinics comme nced in 2002. A research nurse interviewed 914 patients completing a questionnai re recording characteristics, social circumstances, and aspects of diabetes mana gement, including the monitoring of complications and access tomembers of the di abetes team. Glycaemic control was measured by glycosylated haemoglobin (HbA1c), determined at aDCCT aligned central laboratory. Results: The average HbA1c concentration was 8.8%(SD 1.5%), with 20%of patients achiev ing recommended HbA1c levels of less than 7.5%. In the year prior to the audit, 76%of patients were reviewed by a diabetes specialist nurse and 42%were teste d for microalbuminuria. After adjustment for confounding factors, better glycaem ic control was identified, particularly in patients who had attended exactly fou r diabetes clinics in the previous year, were members of the patient association Diabetes UK, and lived with both natural parents. Conclusions: In Northern Irel and only a minority of patients achieved recommended HbA1c levels. Furthermore, children and adolescents with diabetes were reviewed by fewer specialists and we re less intensively monitored for microvascular complications than recommended. There was evidence of better control in children who were members of Diabetes UK , suggesting that parental attitude and involvement could lead to benefits.展开更多
文摘Alpha-1 anti-trypsin (A1AT) deficiency is an inherited enzyme deficiency that manifests with fatal lung and liver complications. In addition to pulmonary and hepatic involvement, the disease has also been linked to an increased incidence of vasculitic syndromes and autoimmune diseases, including Wegener’s granulomatosis, microscopic polyarteritis nodosa and Henoch-Schnlein purpura (HSP). HSP, a systemic, small-vessel vasculitis syndrome, is characterized by a non-thrombocytopaenic purpuric rash,arthralgia,abdominal pain and nephritis. Both A1AT deficiency and HSP have been associated with antineutrophil cytoplasmic antibodies(ANCA)andanti-endothelial cell antibodies (AECA). We report a case of a 40-year-old man with severe A1AT deficiency, who developed HSP associated with AECA, ANCA and anti-phospholipid antibodies of the immunoglobulin-A isotype.
文摘Background: The incidence of cutaneous malignant melanoma has been rising ste adily in Caucasian populations for several decades, with a doubling time of 10- 14 years. An increase in incidence of about 5% per year has been reported in most Caucasian populations since the early 1960s. Objectives: This study was des igned to determine the changing incidence of primary cutaneous malignant melanom a in Northern Ireland and to examine changes in survival rates from cutaneous ma lignant melanoma in two 5- year periods, 1984- 88 and 1994- 98. Methods: One thousand three hundred and twenty-six patients with invasive primary cutaneous melanoma were included in the study. Results: The age standardized rate of mela noma rose from 4- 3 per 100 000 population per year in men and 8.6 per 100 000 population per year in women to 7.7 and 11.8, respectively, p er 100 000 population per year in the 1994- 98 period. Overall, the absolute 5 - year survival for the 1984- 88 period was 71.0% (95% confidence interval (CI) 66.9- 75.1% ) and 77.4% (95% CI 73.4- 81.4% ) for the 1994- 98 pe riod. Women consistently showed better survival at all ages and within almost al l categories of thickness of primary tumour. Younger patients of both sexes show ed better survival rates. Conclusions: When survival rates between the 1984- 88 and 1994- 98 periods were compared using multivariate analysis, we found that patients diagnosed in the second period had a one-third lower risk of dying th an those in the earlier period. Much of this reduction was explained by changes in the number of melanomas of thin Breslow depth and ulcerated melanomas.
文摘Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland. Methods: An audit of the care provided to all patients attending 11 paediatric diabetes clinics comme nced in 2002. A research nurse interviewed 914 patients completing a questionnai re recording characteristics, social circumstances, and aspects of diabetes mana gement, including the monitoring of complications and access tomembers of the di abetes team. Glycaemic control was measured by glycosylated haemoglobin (HbA1c), determined at aDCCT aligned central laboratory. Results: The average HbA1c concentration was 8.8%(SD 1.5%), with 20%of patients achiev ing recommended HbA1c levels of less than 7.5%. In the year prior to the audit, 76%of patients were reviewed by a diabetes specialist nurse and 42%were teste d for microalbuminuria. After adjustment for confounding factors, better glycaem ic control was identified, particularly in patients who had attended exactly fou r diabetes clinics in the previous year, were members of the patient association Diabetes UK, and lived with both natural parents. Conclusions: In Northern Irel and only a minority of patients achieved recommended HbA1c levels. Furthermore, children and adolescents with diabetes were reviewed by fewer specialists and we re less intensively monitored for microvascular complications than recommended. There was evidence of better control in children who were members of Diabetes UK , suggesting that parental attitude and involvement could lead to benefits.
