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801.
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region 总被引:1,自引:3,他引:1
Hu LJ; Laporte J; Kress W; Kioschis P; Siebenhaar R; Poustka A; Fardeau M; Metzenberg A; Janssen EA; Thomas N; Mandel JL; Dahl N 《Human molecular genetics》1996,5(1):139-143
We have recently described a female patient with myotubular myopathy (MTM1)
and an interstitial deletion at Xq28. Characterisation of the deletion
allowed us to position the MTM1 gene to a 600 kb region between DXS304 and
DXS497. In order to further restrict the region we screened for deletions
in a set of 38 patients. We found two overlapping deletions in boys that in
addition to MTM1 showed an unexpected abnormal genital development. As the
latter phenotype is not found in the other non-deleted MTM1 patients, our
observations are best explained by a contiguous gene syndrome. The
deletions define a 430 kb region that contains the MTM1 gene and most
likely a gene implicated in male sexual development. A high resolution
physical map of this region is presented.
相似文献
802.
Briel RC McKeith IG Barker WA Hewitt Y Perry RH Ince PG Fairbairn AF 《Journal of neurology, neurosurgery, and psychiatry》1999,66(3):401-403
OBJECTIVES: To evaluate the role of the EEG in the diagnosis of dementia with Lewy bodies (DLB). METHODS: Standard EEG recordings from 14 patients with DLB confirmed at postmortem were examined and were compared with the records from 11 patients with Alzheimer's disease confirmed at postmortem RESULTS: Seventeen of the total of 19 records from the patients with DLB were abnormal. Thirteen showed loss of alpha activity as the dominant rhythm and half had slow wave transient activity in the temporal lobe areas. This slow wave transient activity correlated with a clinical history of loss of consciousness. The patients with Alzheimer's disease were less likely to show transient slow waves and tended to have less marked slowing of dominant rhythm. CONCLUSIONS: The greater slowing of the EEG in DLB than in Alzheimer's disease may be related to a greater loss of choline acetyltransferase found in DLB. Temporal slow wave transients may be a useful diagnostic feature in DLB and may help to explain the transient disturbance of consciousness which is characteristic of the disorder. 相似文献
803.
Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8 总被引:7,自引:1,他引:7
Luo DF; Buzzetti R; Rotter JI; Maclaren NK; Raffel LJ; Nistico L; Giovannini C; Pozzilli P; Thomson G; She JX 《Human molecular genetics》1996,5(5):693-698
Previous genome-wide mapping studies have provided suggestive linkage
evidence for several novel susceptibility loci responsible for insulin-
dependent diabetes mellitus (IDDM); however, the evidence was not
sufficient to confirm the existence of these genes. We analyzed 265
Caucasian families with IDDM and report the first evidence that meets the
standard for confirmed linkage for three susceptibility loci. The maximum
LOD scores (MLS) were 3.9, 4.5 and 3.6 in our data set, and 5.0, 4.6 and
5.0 for our data combined with non-overlapping data from the literature,
for IDDM4 on chromosome 11q13, IDDM5 on 6q25, and IDDM8 on 6q27,
respectively. However, we could not confirm linkage for IDDM3 on 15q26 and
IDDM7 on 2q31-q33, or linkage disequilibrium between D2S152 and IDDM7.
相似文献
804.
Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4 总被引:5,自引:1,他引:5
805.
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission 总被引:2,自引:3,他引:2
Gouw LG; Castaneda MA; McKenna CK; Digre KB; Pulst SM; Perlman S; Lee MS; Gomez C; Fischbeck K; Gagnon D; Storey E; Bird T; Jeri FR; Ptacek LJ 《Human molecular genetics》1998,7(3):525-532
The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed,
translated CAG tract that is expanded in SCA7 patients. We have determined
expansions in 73 individuals from 17 SCA7 kindreds and compared them with
repeat lengths of 180 unaffected individuals. Subjects with abnormal
expansions comprise 59 clinically affected individuals and 14 at-risk
currently unaffected individuals predicted to carry the mutation by
haplotype analysis. For expanded alleles, CAG repeat length correlates with
disease progression and severity and correlates inversely with age of
onset. Increased repeat lengths are seen in generational transmission of
the disease allele, consistent with the pattern of clinical anticipation
seen in these kindreds. Repeat lengths in expanded alleles show somatic
mosaicism in leukocyte DNA, suggesting that these alleles are unstable
within individuals as well as between generations. Although dynamic repeat
expansions from paternal transmissions are greater than those from maternal
transmissions, maternal transmission of disease is more common, suggesting
germline or embryonic effects of the repeat expansion.
相似文献
806.
0 引言 肝转移癌采用非手术治疗 ,其 1a存活率 17% ,3 a存活率为 12 % ,很少生存 5 a以上 [1 ] .尸检资料报告肺食管肿瘤占继发性肝癌的 19% [1 ] ,我们总结临床治疗肺癌食管癌伴有肝内孤立性转移灶存在 ,术中切除原发病灶的同时 ,通过膈肌切除肝内转移灶患者的治疗经验 ,并结合文献加以讨论 .1 临床资料 6例患者均在术前经病理诊断确诊 ,各系统检查确定仅肝内存在孤立性转移灶 .其中右肺上叶癌 1例 ,伴右肝前叶 2 cm× 2 cm× 2 cm转移灶 ;左肺上叶癌 2例 ,食管中段和下段癌 3例 ,这 5例患者均在左肝内叶或外叶形成不超过 3 cm× 3 cm… 相似文献
807.
808.
JB Haddow H Adwan SE Clark S Tayeh SS Antonowicz P Jayia DW Chicken T Wiggins R Davenport S Kaptanis M Fakhry CH Knowles AS Elmetwally E Geddoa MS Nair I Naeem S Adegbola LJ Muirhead 《Annals of the Royal College of Surgeons of England》2014,96(5):352-358
Introduction
The surgical Apgar score (SAS) can predict 30-day major complications or death after surgery. Studies have validated the score in different patient populations and suggest it should be used to objectively guide postoperative care. We aimed to see whether using the SAS in a decisive approach in a future randomised controlled trial (RCT) would be likely to demonstrate an effect on postoperative care and clinical outcome.Methods
A total of 143 adults undergoing general/vascular surgery in 9 National Health Service hospitals were recruited to a pilot single blinded RCT and the data for 139 of these were analysed. Participants were randomised to a control group with standard postoperative care or to an intervention group with care influenced (but not mandated) by the SAS (decisive approach). The notional primary outcome was 30-day major complications or death.Results
Incidence of major complications was similar in both groups (control: 20/69 [29%], intervention: 23/70 [33%], p=0.622). Immediate admissions to the critical care unit was higher in the intervention group, especially in the SAS 0–4 subgroup (4/6 vs 2/7) although this was not statistically significant (p=0.310). Validity was also confirmed in area under the curve (AUC) analysis (AUC: 0.77).Conclusions
This pilot study found that a future RCT to investigate the effect of using the SAS in a decisive approach may demonstrate a difference in postoperative care. However, significant changes to the design are needed if differences in clinical outcome are to be achieved reliably. These would include a wider array of postoperative interventions implemented using a quality improvement approach in a stepped wedge cluster design with blinded collection of outcome data. 相似文献809.
Incidence of Waldenstrom's macroglobulinemia 总被引:1,自引:0,他引:1
This study sought to determine the incidence and pattern of occurrence of Waldenstrom's macroglobulinemia, a plasmacytoid lymphocyte malignancy that involves monoclonal production of the IgM M-component type. Cases with Waldenstrom's macroglobulinemia have been reported since 1978 to the population-based cancer registry that serves western Washington state, and since 1988 to the eight other cancer registries that participate in the National Cancer Institute's Surveillance, Epidemiology, and End-Results program. Persons less than 85 years old newly diagnosed with Waldenstrom's macroglobulinemia were identified through 1989. The age-standardized annual incidence rate was 6.1 per million in white men and 2.5 per million in white women (1980 US standard). Only five cases were reported in black women, among whom the age-standardized annual incidence rate was 3.6 per million. No cases were reported among black men (5.8 cases expected, based on the rates in white men); this finding may be due to chance, underdiagnosis of Waldenstrom's macroglobulinemia in this group, or may reflect a truly low rate. Further investigation of a large, racially diverse population is required to better characterize the epidemiology of this rare disease. 相似文献
810.