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1.
Summary. Diagnosis of type I von Willebrand Disease (VWD) can be challenging. In 2004, the United Kingdom Haemophilia Centre Doctors’ Organisation (UKHCDO) proposed more stringent diagnostic criteria to replace the 1995 guidelines. To determine the true number of cases of type 1 VWD in a single paediatric centre, the 2004 UKHCDO Guideline for the diagnosis of VWD was used to evaluate 114 patients on our type 1 VWD register. Clinical and laboratory data were collected and analysed to see whether they met the criteria for type 1 VWD. Only 8% remained on the type 1 VWD register. 18% have been classified as ‘possible type 1 VWD’. Twenty five surgical procedures have since been performed on patients from the group in which the diagnosis was removed without any haemostatic support or bleeding complications. Reaction to the removal of the VWD diagnosis or delivery of an alternative diagnosis was positive for most patients and families. This study is the first to assess the impact of the 2004 UKHCDO Guidelines on the diagnosis of VWD. It provides evidence that the prevalence of type 1 VWD may actually be closer to that of haemophilia instead of the previously reported 1–3% of the general population. We propose that all centres should review their patients with a diagnosis of VWD to revalidate this disease that claims to be our most common inherited bleeding disorder. 相似文献
2.
Bicoronary-pulmonary fistulae with coexistent mitral valve prolapse: a case report and literature review of coronary-pulmonary fistula 总被引:1,自引:0,他引:1
ASHRAF S. S.; SHAUKAT N.; FISHER M.; CLARKE B.; KEENAN D. J. 《European heart journal》1994,15(4):571-574
Bicoronary-pulmonary artery fistulae are rare congenital coronaryartery fistulae. We report the case of a 57-year-old man whopresented with biventricular failure and angina pectoris. Atangiography the coronary arteries were normal, but bicoronary-pulmonaryfistulae were noted; severe mitral regurgitation secondary tomitral valve prolapse was also present. At right heart catheterizationthe calculated left to right shunt was 2.1. Fistula ligationand repair of both mitral and tricuspid valves was undertaken.The literature regarding coronary-pulmonary fistula is alsoreviewed. 相似文献
3.
THE NATURE OF ARTHRITIS PAIN 总被引:1,自引:0,他引:1
CHARTER RICHARD A.; NEHEMKIS ALEXIS M.; KEENAN MARY ANN; PERSON DENISE; PRETE PAMELA E. 《Rheumatology (Oxford, England)》1985,24(1):53-60
A modified version of the McGill Pain Questionnaire in visualanalogue format was used to evaluate the sensory, affectiveand evaluative intensities of pain experienced by 40 patientswith rheumatoid arthritis and 20 patients with degenerativearthritis. The affective component of the pain was found tobe more intense than the sensory component in all patients indicatingthe importance of emotional factors in the pain experience.The sensory aspects of the pain were more complex than the affectiveones reflecting the varied sources and combinations of somaticpathology. There were no significant differences found in theoverall pain experience between rheumatoid and degenerativearthritis. No differences were noted in the evaluative categoryof pain. Overall pain intensity increased with disease durationin both rheumatoid and degenerative arthritis. The relationshipof affective and sensory components of the pain experience didnot alter with duration of disease. KEY WORDS: Arthritis, Pain 相似文献
4.
P. V. JENKINS† H. EGAN C. KEENAN E. O'SHEA O. P. SMITH‡ B. NOLAN‡ B. WHITE J. O'DONNELL† 《Haemophilia》2008,14(4):717-722
Summary. Haemophilia B generally arises as a result of unique mutations within the F9 gene and occurs with a prevalence of approximately one case per 30 000 males worldwide. The population prevalence of haemophilia B in Ireland at one per 12 500 males is particularly high. To identify the mutations responsible for haemophilia B and to define the biological basis underlying the increased prevalence in the Irish population, we performed sequence analysis of the F9 gene in 51 apparently unrelated kindred. In 18 kindred with severe or moderate haemophilia B, we identified 14 different mutations; these occurred throughout the F9 gene and included small deletions, missense, non-sense and splice-site mutations and included four novel candidate mutations. In contrast to the variety of different causative mutations with moderate or severe haemophilia B, we found three common mutations accounted for 83% (24/29) of Irish kindred with mild haemophilia B. The mutation n-6 G>A in the promoter region of F9 (which results in the characteristic haemophilia B Leyden phenotype) was found in 10 unrelated kindred. The mutation C>T 30933 in exon 8 (Ala271Val) was identified in a further 10 apparently unrelated kindred. Finally, 10430 G>A mutation (Gly60Ser) was observed in four different kindred. Haplotype analysis was performed on the index cases with the most common mutations and supported the hypothesis that the increased population prevalence of mild haemophilia B in the Irish population arose as a result of founder effect rather than an increased incidence of de-novo F9 mutations. 相似文献
5.
BACKGROUND: Diabetes mellitus is generally not recognized as an important risk factor for venous thromboembolism (VTE). However, clinical observations and case reports have suggested that patients with diabetes and hyperosmolarity may be at increased risk for VTE. Objectives: To determine the risk of VTE in patients hospitalized for diabetes with hyperosmolar state compared to patients with other acute medical illnesses. PATIENTS/METHODS: The California Patient Discharge Data Set was used to determine the incidence of first-time VTE in all patients admitted between 1995 and 2000 for diabetes with hyperosmolarity and 11 other acute medical conditions. Proportional hazard modeling was used to adjust for age, race, gender, and prior hospitalization within 3 months. RESULTS: Among 2859 patients with diabetes and hyperosmolarity, 34 (1.2%) developed VTE during the hospitalization and 14 (0.5%) developed VTE within 91 days after discharge. In an adjusted multivariate model comparing the risk of VTE to cases with depression, patients with hyperosmolarity had a significantly higher risk of VTE [hazard ratio (HR) = 16.3; 95% confidence interval (CI): 10-25] comparable to the risk associated with sepsis (HR = 19.3; 95% CI: 13-29) or acute connective tissue disease (HR = 21; 95% CI: 15-31). Compared to uncomplicated diabetes, patients with hyperosmolarity had a significantly higher risk of VTE (HR = 3.0; 95% CI: 2.1-4.5) whereas patients with ketoacidosis were not at higher risk (HR = 1.2; 95% CI: 0.8-1.7). CONCLUSIONS: Patients hospitalized for diabetes with hyperosmolarity are at increased risk for developing VTE both during their inpatient stay and in the 3 months after discharge. Thromboprophylaxis in these patients appears warranted, and extended prophylaxis for after hospital discharge should be studied. 相似文献
6.
Cardiac involvement in seatbelt-related and direct sternal trauma: a prospective study and management implications 总被引:1,自引:0,他引:1
BU'LOCK F. A.; PROTHERO A.; SHAW C.; PARRY A.; DODDS C. A. F.; KEENAN J.; FORFAR J. C. 《European heart journal》1994,15(12):1621-1627
The study set out to assess the incidence and consequences ofpericardial and myocardial involvement in seatbelt-related sternalinjury. Comparison was made with that from direct sternal traumaand implications for patient management were examined The study was designed as a prospective sequential single centrestudy of 60 patients, from a total of 63 consecutive admissionsover a 13 month period, admitted with blunt central chest traumaor multiple injuries involving the torso. Clinical status, correlatedwith echo cardiographic, ECG and cardiac enzyme abnormalitieswere the main outcome measures. The study showed that 25% of 32 patients with seatbelt-relatedchest injury and 30% of 10 patients with multiple injuries hadclinically unsuspected pericardial effusions detected by echocardiography.Pericardial effusion was not associated with an adverse outcomein the seatbelt-related injuries. Abnormalities of ECG or CK-MBisoenzyme levels were non-specific and did not correlate withthe presence of pericardial effusion. From these data it is concluded tliat seatbelt-related sternaltrauma is usually relatively benign. Echocardiography detectsunsuspected pericardial effusion in a significant minority butECG and cardiac enzyme estimations are of limited value. Theroutine admission to hospital of all patients with isolatedseatbelt-related sternal trauma for cardiological monitoringis unnecessary. Inpatient treatment should be reserved for patientswhose clinical condition, social circumstances or other injuriesnecessitate admission. 相似文献
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Phenol block of peripheral nerve and of muscle selectively reducespasticity without significantly impairing power or sensation.The technique of block under electrical control is describedand our experience with these methods over three years is related.In patients with upper motor neurone lesions in whom there isresidual power, function is improved, and in those with completeparalysis, posture, appearance, and comfort are improved. 相似文献