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排序方式: 共有476条查询结果,搜索用时 15 毫秒
91.
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) 总被引:1,自引:1,他引:1
Kelsell DP; Risk JM; Leigh IM; Stevens HP; Ellis A; Hennies HC; Reis A; Weissenbach J; Bishop DT; Spurr NK; Field JK 《Human molecular genetics》1996,5(6):857-860
Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar
ectodermal dysplasia type III) is associated with oesophageal cancer in
three families: two large pedigrees located in Liverpool, UK and in the
midwestern American states and one smaller family from Germany. In these
families, the PPK is inherited as autosomal dominant and has a late onset,
usually manifesting between 7 and 8 years of age. The disease is
characterised by thickening of the pressure areas of the soles, but is not
restricted to the feet and also presents with oral leukokeratosis and
follicular hyperkeratosis. The disease locus [previously termed the
"tylosis oesophageal cancer gene' (TOC) locus] has been mapped to
17q23-qter by linkage analysis. This region is located telomeric to the
keratin 16 gene, in which mutations have been identified in focal PPK
families who show no increased cancer risk. We describe the close mapping
of this locus to the interval between AFMb054zf9 and D17S1603 using
haplotype analysis of additional Genethon markers in the region and show
that although the American family is unlikely to be related to either of
the other two, the UK and German pedigrees may share a common descent. This
work provides a basis for positional cloning and candidate gene analysis in
order to identify a gene that may be involved in familial oesophageal
cancer.
相似文献
92.
Rockstroh JK; Schobel HP; Vogt-Ladner G; Hauser I; Neumayer HH; Schmieder RE 《Nephrology, dialysis, transplantation》1997,12(7):1441-1447
Left ventricular hypertrophy is well established as a blood pressure
independent cardiovascular risk factor in patients on renal replacement
therapy. The effects of antihypertensive treatment on myocardial structure
and function in renal transplant recipients have been so far only rarely
investigated. In a double-blind, placebo-controlled study patients were
randomized to the calcium channel blocker nitrendipine or placebo if the
transplanted kidney had developed a stable phase. Normotensive patients
received nitrendipine 2 x 5 mg daily or placebo, hypertensive patients
received 2 x 10 mg up to 2 x 20 mg nitrendipine daily or placebo. To
achieve adequate blood pressure control, all patients with still elevated
blood pressure on study medication received antihypertensive drugs other
than calcium channels blockers. Ambulatory blood pressure recording and
2D-guided M-mode echocardiography were performed at baseline and upon
completion of the study. In addition, laboratory workup (including serum
creatinine and lipids) was done, and serum aldosterone, plasma renin
activity, plasma angiotensin II and blood glucose levels were measured in
all patients at baseline and after at least 12 months of therapy.
Ambulatory blood pressure was almost identical between both groups at study
baseline and follow-up. In renal transplant patients on nitrendipine,
posterior wall thickness (-0.10 +/- 1.77 mm) and septal wall thickness
(-0.83 +/- 2.23 mm) did not change significantly from baseline. In
contrast, posterior wall thickness (0.71 +/- 0.92 mm, P < 0.01) and
septal wall thickness (0.97 +/- 2.20 mm, P < 0.05) increased in patients
on placebo, which differed from the observed changes on nitrendipine
(ANOVA: P = 0.093 and P = 0.048, respectively). Relative wall thickness, a
parameter for concentric left ventricular hypertrophy, became numerically
smaller on nitrendipine therapy from 0.46 +/- 0.07 to 0.44 +/- 0.09 (-0.02
+/- 0.09, NS) but increased from 0.42 +/- 0.08 to 0.48 +/- 0.08 in the
placebo arm (+0.04 +/- 0.08, P < 0.02), which was also significant
between the two groups (ANOVA: P = 0.036). Endocrine parameters, lipids and
blood glucose were not different between the two groups. We conclude from
these data that the calcium channel blocker nitrendipine exerted beneficial
effects on cardiac structure in patients after renal transplantation
independent of blood pressure.
相似文献
93.
BHK Ng E Mulyadi JK Pereira S Ghedia J Pinner D Mowat M Vonau 《Journal of Medical Imaging and Radiation Oncology》2006,50(6):583-590
Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8‐week‐old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease. 相似文献
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98.
Macmillan nurses, working as Clinical Nurse Specialists (CNS), are in many ways the public face of specialist palliative care in the UK. However, the way in which they manage their clinical workload is not well understood. Questions about this aspect of their work have emerged from a large-scale evaluation of Macmillan nursing in 12 sites in the Trent and Thames regions of the UK, funded by Macmillan Cancer Relief. This article focuses on how Macmillan nurses enact their patient care role, drawing on caseload data, diaries and semi-structured interviews from the wider evaluation. It concentrates on the following issues: characteristics of referred patients; nature of interventions given; division of time between different aspects of the CNS role; nurses' perceptions of their patient-care role. Findings suggest that activities associated with direct patient care account for the majority of nurses' time, with little time spent in any other individual aspect of the CNS role. The delivery of care to older patients at the end of life is a major part of Macmillan nurses' clinical role. Issues relating to the educational and support needs of Macmillan nurses are raised. 相似文献
99.
The incidence of cytomegalovirus (CMV) infection was determined in 114 transfused neonates of any birthweight born to CMV antibody-negative mothers. In a second phase of this study, an additional 28 transfused infants weighing less than 1250 g, born to both CMV antibody-negative and antibody-positive mothers, were followed. All infants underwent weekly virus culture and monthly serology during hospitalization and at 6 to 12 weeks after their last transfusion. Only one of 126 (0.8%) seronegative infants and one of 16 (6.3%) seropositive infants developed CMV infection. If the assumption is made that the CMV-infected infant received only 1 unit of infectious blood, the risk of transfusion-acquired CMV infection to seronegative infants is 0.16 percent per cellular unit transfused or 0.37 percent per seropositive cellular unit transfused. Despite similarities in the prevalence of CMV antibody in the donor population, the age of blood products used, and the mean number of donor exposures, a significantly lower incidence of CMV infection was found in the seronegative transfused infants than that in two previously published studies (p less than 0.01, p less than 0.001). Because no mortality and very little morbidity could be attributed to transfusion-acquired CMV infection in the nurseries, the authors can see no justification for the provision of specialized blood components for the prevention of CMV infection in this patient population. 相似文献
100.
James E. Manning MD D. Neil Batson Thomas W. Gansman BA Charles A. Murphy JK BEd 《Academic emergency medicine》1997,4(9):883-890
Objective : To determine whether selective aortic arch perfusion (SAAP) using serial infusions of oxygenated perflubron emulsion combined with aortic epinephrine (AoE) administration is more effective than conventional therapy in treating cardiac arrest.
Methods : An experimental cardiac arrest model (10 min ventricular fibrillation and 2 min CPR) was used with 12 mixed-breed canines, randomized into 2 groups: control ( n = 6), CPR and IV epinephrine, 0.01 mgkg, at 12 rnin and then every 3 min; or AoE-SAAP ( n = 6), CPR and aortic epinephrine, 0.01 mgkg, at 12 rnin and then every 3 min, and serial SAAP with oxygenated 60% weightholume (w/v) perflubron emulsion as follows: 300 mL over 30 sec at 12 rnin as continuous SAAP without CPR; 150 mL over 20–30 sec at 15 min and 18 rnin as pulsed diastolic SAAP during CPR.
Results : AoE-SAAP resulted in increased coronary perfusion pressure (CPP) and return of spontaneous circulation (ROSC) compared with control. CPR-diastolic (release phase) CPP during pulsed diastolic SAAP was similar to or greater in magnitude than the CPP generated during the initial SAAP infusion without CPR. ROSC for control was 0/6 and for AoE-SAAP was 416 (p < 0.05, Fisher's exact test). Time from initiation of CPR to ROSC with a sustained systolic aortic pressure >60 mm Hg was 8.0 ± 1.2 rnin in the 4 resuscitated AoE-SAAP animals.
Conclusion : The combination of AoE with SAAP infusions of oxygenated perflubron emulsion was more effective than conventional resuscitation therapy. Pulsed diastolic SAAP is a promising method for performing SAAP. 相似文献
Methods : An experimental cardiac arrest model (10 min ventricular fibrillation and 2 min CPR) was used with 12 mixed-breed canines, randomized into 2 groups: control ( n = 6), CPR and IV epinephrine, 0.01 mgkg, at 12 rnin and then every 3 min; or AoE-SAAP ( n = 6), CPR and aortic epinephrine, 0.01 mgkg, at 12 rnin and then every 3 min, and serial SAAP with oxygenated 60% weightholume (w/v) perflubron emulsion as follows: 300 mL over 30 sec at 12 rnin as continuous SAAP without CPR; 150 mL over 20–30 sec at 15 min and 18 rnin as pulsed diastolic SAAP during CPR.
Results : AoE-SAAP resulted in increased coronary perfusion pressure (CPP) and return of spontaneous circulation (ROSC) compared with control. CPR-diastolic (release phase) CPP during pulsed diastolic SAAP was similar to or greater in magnitude than the CPP generated during the initial SAAP infusion without CPR. ROSC for control was 0/6 and for AoE-SAAP was 416 (p < 0.05, Fisher's exact test). Time from initiation of CPR to ROSC with a sustained systolic aortic pressure >60 mm Hg was 8.0 ± 1.2 rnin in the 4 resuscitated AoE-SAAP animals.
Conclusion : The combination of AoE with SAAP infusions of oxygenated perflubron emulsion was more effective than conventional resuscitation therapy. Pulsed diastolic SAAP is a promising method for performing SAAP. 相似文献