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1.
Epidemiology of multiple sclerosis in the north-east (Grampian region) of Scotland--an update. 总被引:10,自引:3,他引:7 下载免费PDF全文
The north-east of Scotland (Grampian Region) has undergone three incidence and prevalence surveys, including the present one, since 1970. Results from these indicate a true increase in the prevalence of the disease in the region. The incidence of the disease has remained continuously high and shows a slightly upward trend. Literature on the subject of repeated surveys in different regions of the world has been reviewed in detail. The need for a prevalence study from the south of the British Isles has been emphasised in order to enable one to judge if the increase in Scotland is in keeping with the pattern in the whole of the British Isles. The familial incidence of the disease was noted to be virtually unchanged between the three surveys. Certain other aspects of aetiological significance have been analysed, viz, clustering of patients at birth or at onset of the disease; ages of occurrence of childhood viral infections such as measles, mumps, chickenpox and rubella; and the role of canine distemper infection. 相似文献
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Survival pattern and cause of death in patients with multiple sclerosis: results from an epidemiological survey in north east Scotland. 总被引:6,自引:3,他引:3 下载免费PDF全文
J G Phadke 《Journal of neurology, neurosurgery, and psychiatry》1987,50(5):523-531
The mean survival period in a series of 216 multiple sclerosis deaths, which formed part of a large prevalence sample observed in the Grampian region of Scotland, was 24.5 years, with an insignificant difference between females (25.7 years) and males (23.5 years). A third of the patients survived for over 30 years after onset. The age at death ranged between 25-80 years, with majority of the deaths occurring in the seventh decade (37%). On comparing life expectancy with the Scottish general population using life tables, only a slight reduction in the short-term (less than 10 years from onset) survival was noted in all age groups, with the exception of those with onset over the age of 50 years. The long-term life expectancy was however markedly reduced in all age groups compared with the controls. The survival period could be accurately predicted from the degree of disability at a point in time, and could be correlated with a number of clinical features, the most important of which was the age at onset. Eighty five per cent of those with onset of multiple sclerosis over the age of 50 years died within 20 years. Patients with a cerebellar disturbance at onset survived the shortest, and those with a brainstem lesion or retrobulbar neuritis the longest; those with a pyramidal dysfunction had an intermediate prognosis. Other parameters which could be correlated with the survival were: the timing and frequency of occurrence of psychiatric and urinary symptoms, interval between onset and first relapse and the course of the disease. As expected, most patients (89%) were significantly disabled (unable to walk) prior to death, only a minority, however, had become so within 10 years of the onset (10%). Sixty two per cent of the patients died of complications of multiple sclerosis. No unusual excess of any disease was noted amongst other causes. As expected, the majority of patients (55%) had bronchopneumonia as the terminal event, 11% had septicaemia, 15% had myocardial infarction and 4% had documented pulmonary embolism. This is the largest series of its kind where prognosis, judged by survival period, has been assessed amongst all multiple sclerosis patients derived from a prevalence sample and observed till death. 相似文献
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An unusual case of dorsal spinal dysraphism in a four year old child is presented. Various abnormalities including diastematomyelia, an extradural arachnoid cyst arising from one of the two dural tubes, and lipomeningomyelocele with a related rib-like bony structure were demonstrated with Iohexol CT and subsequently confirmed at surgery. 相似文献
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Image-directed percutaneous biopsies with a biopsy gun 总被引:3,自引:0,他引:3
Core tissue for histologic study is believed by many pathologists to be more diagnostic than material from needle aspiration. Recently, a biopsy "gun" has been introduced, which simplifies core biopsies. With this device, 182 biopsies of multiple anatomic sites were performed with ultrasonic, computed tomographic, and fluoroscopic guidance and 18-gauge needles. High-quality histopathologic specimens were obtained in 177 of the biopsies, and diagnostic target tissue was obtained in 167. Only three significant complications occurred: one bleeding complication that required transfusion and two cases of pneumothorax that necessitated placement of chest tubes. The biopsy gun eliminated the disjointed movements of conventional "skinny" needle biopsies, and none of the samples demonstrated significant "crush" artifact or obscuring blood, problems that are commonly associated with manual biopsy techniques. Patient discomfort was decreased with this system compared with that of manual biopsies, and the total procedure time was reduced. Because of these distinct advantages, the authors now use the biopsy gun exclusively for all percutaneous biopsies and recommend that other institutions consider the use of this biopsy method. 相似文献
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The feasibility of DNA diagnosis for haemophilia A in North India was evaluated using intragenic polymorphic DNA markers in factor VIII gene for linkage analysis as well as direct detection of inversion mutation in intron 22 of the gene. The informativity of RFLP (HindIII, BclI and XbaI) and STR (introns 13 and 22) markers for linkage analysis in factor VIII gene was determined in 100 normal individuals. The observed heterozygosity for RFLP markers HindIII, BclI and XbaI was 0.63, 0.60 and 0.48 while that of STR markers introns 13 and 22 were 0.60 and 0.40 respectively. Six and four alleles were identified for introns 13 and 22 and the most frequent allele was 13(CA)26 and 22(AG)n(GT)26 with an allele frequency of 0.53 and 0.62 respectively. The heterozygosities observed for RFLP markers was higher (>70%) than the STR markers (50%) in the affected families with haemophilia A. Inversion mutation was detected in 37% of severely affected patients. Based on present and previous studies from India, a strategy has been proposed to provide molecular diagnosis to a large number of undiagnosed cases of haemophilia A. 相似文献
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Suzena Masih Amita Moirangthem Shubha R. Phadke 《American journal of medical genetics. Part A》2020,182(2):293-295
Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent. 相似文献