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1.
Serotyping, HS antigen and HL antigen, was performed on 105 Campylobacter jejuni/coli isolates from the same number of consequtive patients seeking medical attention for diarrhoea. The results were compared to a similar study performed five years earlier. It was found that there were only minor differences in frequency of the serotypes commonly isolated during the two different periods.  相似文献   

2.
Myotonic dystrophy (DM) is associated with an underlying CTG trinucleotide repeat expansion at a locus on chromosome 19q13.3. We have determined the repeat length in 23 DM patients with varying clinical severity of symptoms and various sizes of repeat amplification. We confirm that as in previous studies there is no strong correlation between repeat length and clinical symptoms but find that the repeat length in peripheral blood cells of patients increases over a time span of five years indicating continuing mitotic instability of the repeat throughout life. Repeat length progression does not appear to be indicative of clinical progression but age probably is. The degree of expansion correlates with the initial repeat size and 50% of the patients with continuing expansions showed clinical progression of their disease symptoms over the five year study period.  相似文献   

3.
FRAXA and FRAXE: the results of a five year survey   总被引:7,自引:0,他引:7       下载免费PDF全文
We report the results of a five year survey of FRAXA and FRAXE mutations among boys aged 5 to 18 with special educational needs (SEN) related to learning disability. We tested their mothers using the X chromosome not transmitted to the son as a control chromosome, and the X chromosome inherited by the son to provide information on stability of transmission. We tested 3738 boys and 2968 mothers and found 20 FRAXA and one FRAXE full mutations among the boys and none among the mothers. This gives an estimated prevalence of full mutations in males of 1 in 5530 for FRAXA and 1 in 23 423 for FRAXE.
We found an excess of intermediate and premutation alleles for both FRAXA and FRAXE. For FRAXA this was significant at the 0.001 level but the excess for FRAXE was significant only at the 0.03 level. We conclude that the excess of intermediate and premutation sized alleles for FRAXA may well be a contributing factor to the boys' mental impairment, while that for FRAXE may be a chance finding.
We studied approximately 3000 transmissions from mother to son and found five instabilities of FRAXA in the common or intermediate range and three instabilities of FRAXE in the intermediate range. Thus instabilities in trinucleotide repeat size for FRAXA and FRAXE are rare, especially among alleles in the common size range.


Keywords: FRAX syndromes; incidence; intermediate alleles; stability  相似文献   

4.
A striking increase in the numbers of cultures positive for Mycobacterium tuberculosis was noticed in a mycobacterial reference laboratory in Campinas, Sao Paulo State, Brazil, in May 1995. A contaminated bronchoscope was the suspected cause of the increase. All 91 M. tuberculosis isolates grown from samples from patients between 8 May and 18 July 1995 were characterized by spoligotyping and IS6110 fingerprinting. Sixty-one of the 91 isolates had identical spoligotype patterns, and the pattern was arbitrarily designated S36. The 61 specimens containing these isolates had been processed and cultured in a 21-day period ending on 1 June 1995, but only 1 sample was smear positive for acid-fast bacilli. The patient from whom this sample was obtained was considered to be the index case patient and had a 4+ smear-positive lymph node aspirate that had been sent to the laboratory on 10 May. Virtually all organisms with spoligotype S36 had the same IS6110 fingerprint pattern. Extensive review of the patients' charts and investigation of laboratory procedures revealed that cross-contamination of specimens had occurred. Because the same strain was grown from all types of specimens, the bronchoscope was ruled out as the outbreak source. The most likely source of contamination was a multiple-use reagent used for specimen processing. The organism was cultured from two of the solutions 3 weeks after mock contamination. This investigation strongly supports the idea that M. tuberculosis grown from smear-negative specimens should be analyzed by rapid and reliable strain differentiation techniques, such as spoligotyping, to help rule out laboratory contamination.  相似文献   

5.
In an epidemiological study, nine isolates of dematiaceous fungi were recovered from the interior of a local feed and seed warehouse. Sample sites include brick walls and floors. Air samples also were included. Samples were collected in saline and plated on Mycobiotic and Sabouraud agar. The nine dematiaceous fungi recovered from these samples were identified with microscopic morphology, thermotolerance, biochemical reactions, and animal virulence test. Four isolates were identified as nonpathogens on the basis of positive gelatin tests. The identified pathogens included Fonsecaea pedrosoi, Cladosporium bantianum (C trichoides), Wangiella dermatitidis (Dixon et al., Mycopathologia 70:153-161, 1980), and Exophiala jeanselmei. These five organisms were injected into NCI/ALB mice. Only the isolate of C. bantianum was neurotropic, as demonstrated histopathologically and by the recovery of the organism from brain tissue. None of the remaining four isolates were seen or cultured from any of the mouse tissues analyzed. The recovery of pathogenic dematiaceous fungi from environmental sites is not uncommon. However, this study is noteworthy in that it represents only the second reported isolation of C. bantianum and the first isolation of F. pedrosoi from the environment in North America and suggests that these fungi may be more ubiquitous in this region that previously believed.  相似文献   

6.
The authors reviewed 3133 consecutive autopsies performed in the 5 year period from 1986 to 1990 in Queen Mary Hospital (Hong Kong), and 96 cases of aortic aneurysms were found. The incidence was 1 in 33 autopsies. The ratio of male to female was 1.8 to 1, and the disease was most common in the eighth decade of life. The majority of death was due to rupture (70%) or related atherosclerotic diseases (14%), and the majority of aneurysms were not suspected before autopsies (62%). Most of the non-dissecting aneurysms were found in the abdominal aorta, the infra-renal portion. For dissecting aneurysms, Daily's type A was much more common. Hypertension was recognized in a high proportion of cases. Accompanying diseases like syphilis, Takayasu's disease, ischemic heart disease, cerebrovascular accident, diabetes mellitus, peripheral vascular disease, and chronic obstructive airway disease were also noted.  相似文献   

7.
Hepatitis C virus (HCV) genotype (GT) distribution and frequency were studied among 22,407 unique specimens tested at a national reference testing laboratory. Subjects with HCV GT 3 were younger (P < 0.0001) than those with GT 1, 2, or 4, and the regional frequencies of HCV GT 2 and 3 ranged from 19.9% to 29.2%.  相似文献   

8.
BACKGROUND. Subfertility in general practice is a common problem. However, most treatment is initiated in hospital. There may be a role for general practitioners in the treatment of some infertile patients. AIM. The aim of this study was to investigate the prevalence and management of infertility in women in general practice and to identify a specific cohort of patients potentially suitable for management in primary care. METHOD. The general practice notes of all women patients between the ages of 16 and 42 years who presented to their general practitioner with an infertility problem in the five years preceding July 1993 were analysed retrospectively. The patients were identified from the computer database of one Durham general practice. RESULTS. Fifty four cases were identified over the five year period, giving a prevalence of infertility in women in the practice of 15 per 1000 women. Of those who had a definite diagnosis made, 27% had an ovulatory disorder. Women with an ovulatory disorder tended to have a low serum day 21 progesterone level (90%); to present with primary infertility (80%); and to receive clomiphene as first line therapy (80%). The majority of ovulation induction therapy (95%) was initiated in secondary care. CONCLUSION. Ovulation induction therapy with clomiphene appears to be uncommon in general practice at present. Women requiring ovulation induction therapy may be a cohort of patients suitable for such management in general practice. These patients tend to present with primary infertility and to have a low mid-luteal progesterone level.  相似文献   

9.
Thymectomy in ulcerative colitis: a report of cases over a 13 year period   总被引:2,自引:0,他引:2  
Seventy eight patients with ulcerative colitis were treated by thymectomy combined with conventional therapy. An interim analysis was made after a median follow-up of 40 months in the thymectomized group and after 25 months in 173 from a non-thymectomized group. The percentage of remission periods in the thymectomized group was significantly higher than that in the non-thymectomized group as estimated by the "patient-month" method. Histological examination of the excised thymus revealed hyperplasia of the thymic epithelial cells and/or the formation of lymphoid follicles. Anticolon antibody activity of the serum from the thymectomized patients decreased gradually and disappeared in 5 years or more. "Thymectomy via the suprasternal notch with parasternal incision" which was applied in this study, is simple and not invasive. Therefore, it is recommended that thymectomy should be considered as one of the treatment for patients who are resistant to conventional therapy.  相似文献   

10.
11.
Introduction. Deficits in the ability to think about thinking have been widely observed in persons with schizophrenia and linked with concurrent assessments of various forms of function. Less is known though about their links to outcome over time. To address this issue, the current study explores whether Mastery, a domain of metacognition that reflects the ability to use knowledge about one's own mental states and those of others to respond to psychological challenges, is related to the frequency of social contact and persons’ capacity for social relatedness.

Methods. Participants were 72 adults with schizophrenia spectrum disorders enrolled in vocational rehabilitation; these patients completed a baseline assessment as well as a follow-up assessment 5 months later. Mastery was assessed using the Metacognitive Assessment Scale and social functioning by the Quality of Life Scale.

Results. Using structural equation modelling, the proposed model demonstrated acceptable fit even when a range of possible confounding variables were entered as covariates.

Conclusions. Results are consistent with the possibility that certain forms of metacognition affect social function among persons with schizophrenia, both concurrently and over time.  相似文献   

12.
13.
A total of 332 major pathogenic fungi were isolated from specimens cultured onto both fungal culture media and media used for culturing mycobacteria from January 1968 to June 1975. Only 72 (21.7%) fungi were recovered on media used for culturing mycobacteria. The effect of sodium hydroxide treatment was evaluated and shown to be detrimental to the recovery of fungi. It is recommended that clinical laboratories not rely on mycobacteriological cultures to recover fungal pathogens.  相似文献   

14.
This study ascertained 164 males with non-communicating hydrocephalus in live or stillborn patients in Victoria. Australia in 1962 to 1982, after excluding those cases secondary to brain malformations other than aqueduct stenosis. Ascertainment was considered near complete, especially for the period since 1974, but details of the aqueduct pathology were inadequate in half the cases. A total of 91 families was seen to record detailed family information. The overall incidence of primary non-communicating hydrocephalus was estimated to be 0.6 +/- 0.2 per 1000 live and stillbirths, with three-fifths of the cases male. Twelve patients were classified as having definite X linked hydrocephalus and 13 others as probable cases of this condition. Deformities of the thumbs (generally adduction deformity) were present in nearly half of these cases. The pyramids were absent from sections of the medulla whenever these were available. Four of five survivors had signs suggesting pyramidal tract lesions, compared to four of 25 surviving non-X linked cases. The intellectual outcome was notably poorer in the X linked cases. Poor school performance was also described in five of 19 mothers of X linked cases but in only one of 64 mothers of the remaining cases. Familial recurrence in the whole group of patients was almost confined to the X linked families. The exceptions were two families in whom autosomal recessive inheritance is possible. It is important to remember X linked hydrocephalus in genetic counselling. Examination of the thumbs, search for clinical signs of pyramidal tract lesions, and anatomical examination of the pyramids in medullary sections are all important, along with careful questioning for a history of affected maternal relatives. The presence of any of these features is grounds for counseling on the basis of X linked inheritance. An empirical figure was derived to use when counseling about a male with non-communicating hydrocephalus in whom there is no adequate information about the thumbs or the pyramids: a 4% recurrence risk in male sibs and 2% in females.  相似文献   

15.
During 1973 and 1974, the following fungi were detected in clinical specimens by using phase-contrast microscopy: Blastomyces dermatitidis, 5; Coccidioides immitis, 3; Cryptococcus neoformans, 11; other yeasts 918; dermatophytes, 863; Mucor species, 1; and Aspergillus fumigatus, 16. This technique allows rapid detection and, in many instances, immediate identification of fungi in clinical specimens.  相似文献   

16.
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18.
Summary Sewage specimens were collected weekly for a two year period (1969–1970) at the inlet of the three major sewage treatment plants of the Stockholm area and investigated for viral content. Virus was isolated from almost all samples, in one third of the specimens two or more types of entero- or reovirus were identified. Poliovirus was isolated on 11 different occasions. The significance of the findings and different methodological problems met with are discussed.  相似文献   

19.
Data from all 225 women operated on for ectopic pregnancy in 1992-1994 at Sahlgrenska University Hospital were collected and compared with three previous cross-sectional investigations from our hospital (1975- 1979, 1981-1982 and 1986-1987) in order to evaluate the extent to which surgical treatment and post-operative complications have changed over a 20 year period. Laparoscopic surgery, which was not possible in the 1970s, was used in almost 85% of the ectopic pregnancies in 1992-1994. Conservative treatment was still the most frequently used technique. The complication rate was 1.2% in 1975-1979 when only laparotomies were carried out. After the introduction of laparoscopic surgery (1986- 1987), the complication rate rose significantly (7.3%) and continued to increase even when this procedure was established as routine (14.2% in 1992-1994). Post-operative complications were most frequent after conservative laparoscopic surgery (24.4%) while there were no complications after laparotomies. In spite of increasing complication rates the frequency of patients in pre-shock, as well as the proportion of patients with heavy intra-abdominal bleeding and tubal rupture, decreased over time.   相似文献   

20.
A total of 338 surgical specimens of the thoracic aorta were studied morphologically. These were obtained from patients (238 males, 100 females) operated on for aortic aneurysm or dissection at the Careggi Hospital, Florence, Italy, between January 1999 and June 2005. Medial degeneration was diagnosed in 299 cases (138 aneurysms, 161 dissections), atherosclerosis with extensive medial destruction was seen in 32 cases (26 aneurysms, 6 dissections), and giant cell arteritis (GCA) was found in 7 cases (all aneurysms). These data show that medial degeneration was a common nonspecific histologic diagnosis in aortic resection after the occurrence of aneurysm or dissection. Considering that this diagnosis was made in as many as 118 patients over 70 years of age and in 175 patients over 65, normal advancing age would appear as the most frequent correlation with these aortic events. Ageing is also associated with the increasing number of cases of GCA with aortic involvement. Angiogenesis, always observed next to areas of medial damage whatever the underlying pathology, may contribute to the pathogenesis of aortic dissection and aneurysm.  相似文献   

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