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排序方式: 共有579条查询结果,搜索用时 31 毫秒
1.
M Petrou M Brugiatelli J Old P Hurley R H Ward K P Wong C Rodeck B Modell 《British journal of obstetrics and gynaecology》1992,99(12):985-989
OBJECTIVE: Alpha zero (alpha 0 or alpha-1) thalassaemia is an important genetic risk for women originating from Hong Kong, Singapore, Vietnam, Thailand, the Philippines or South China. Cypriots are also at risk. Carriers of alpha zero thalassaemia trait can be detected by routine haemoglobinopathy screening. When a couple are both carriers, in each pregnancy there is a 25% risk that the fetus will have alpha thalassaemia hydrops fetalis; this is fatal for the fetus and carries serious obstetric and psychological risks for the mother. Most informed couples at risk request prenatal diagnosis and selective abortion. This study investigates the effectiveness of screening, counselling and prenatal diagnosis for alpha thalassaemia hydrops fetalis in the UK. DESIGN: Retrospective analysis of the notes. SUBJECTS: 18 couples attending University College Hospital London for prenatal diagnosis of alpha thalassaemia hydrops fetalis since 1982. RESULTS: The study shows underdiagnosis of both alpha zero thalassaemia trait and alpha thalassaemia hydrops fetalis leading to avoidable stillbirths and complications in pregnancy. CONCLUSION: We recommend early screening for alpha zero thalassaemia trait for all women of Southeast Asian or eastern Mediterranean origin and the offer of prenatal diagnosis when indicated. The diagnosis of alpha thalassaemia hydrops fetalis should be considered in women of the relevant ethnic origin who have a stillbirth, neonatal death, abnormal ultrasound findings at fetal anomaly scanning (especially a large placenta), or who develop pre-eclampsia. 相似文献
2.
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies 总被引:11,自引:0,他引:11
Dibbens LM Feng HJ Richards MC Harkin LA Hodgson BL Scott D Jenkins M Petrou S Sutherland GR Scheffer IE Berkovic SF Macdonald RL Mulley JC 《Human molecular genetics》2004,13(13):1315-1319
A major challenge in understanding complex idiopathic generalized epilepsies has been the characterization of their underlying molecular genetic basis. Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans. We have found a GABRD Glu177Ala variant which is heterozygously associated with generalized epilepsy with febrile seizures plus. We also report an Arg220His allele in GABRD which is present in the general population. Compared with wild-type receptors, alpha1beta2Sdelta GABAA receptors containing delta Glu177Ala or Arg220His have decreased GABAA receptor current amplitudes. As GABAA receptors mediate neuronal inhibition, the reduced receptor current associated with both variants is likely to be associated with increased neuronal excitability. Since delta subunit-containing receptors localize to extra- or peri-synaptic membranes and are thought to be involved in tonic inhibition, our results suggest that alteration of this process may contribute to the common generalized epilepsies. 相似文献
3.
Katsigianni Eleni Ioanna Petrou Panagiotis 《Cost effectiveness and resource allocation : C/E》2022,20(1):1-14
In December 2019, the Digital Health Care Act (“Digitale-Versorgung-Gesetz”) introduced a general entitlement to the provision and reimbursement of digital health applications (DiGA) for insured persons in the German statutory health insurance. As establishing a new digital service area within the solidarity-based insurance system implies several administrative and regulatory challenges, this paper aims to describe the legal framework for DiGA market access and pricing as well as the status quo of the DiGA market. Furthermore, we provide a basic approach to deriving value-based DiGA prices. To become eligible for reimbursement, the Federal Institute for Drugs and Medical Devices evaluates the compliance of a DiGA with general requirements (e.g., safety and data protection) and its positive healthcare effects (i.e., medical benefit or improvements of care structure and processes) in a fast-track process. Manufacturers may provide evidence for the benefits of their DiGA either directly with the application for the fast-track process or generate it during a trial phase that includes temporary reimbursement. After one year of \]reimbursement, the freely-set manufacturer price is replaced by a price negotiated between the National Association of Statutory Health Insurance Funds and the manufacturer. By February 2022, 30 DiGA had successfully completed the fast-track process. 73% make use of the trial phase and have not yet proven their benefit. Given this dynamic growth of the DiGA market and the low minimum evidence standards, fair pricing remains the central point of contention. The regulatory framework makes the patient-relevant benefits of a DiGA a pricing criterion to be considered in particular. Yet, it does not indicate how the benefits of a DiGA should be translated into a reasonable price. Our evidence-based approach to value-based DiGA pricing approximates the SHI’s willingness to pay by the average cost-effectiveness of one or more established therapy in a field of indication and furthermore considers the positive healthcare effects of a DiGA. The proposed approach can be fitted into DiGA pricing processes under the given regulatory framework and can provide objective guidance for price negotiations. However, it is only one piece of the pricing puzzle, and numerous methodological and procedural issues related to DiGA pricing are still open. Thus, it remains to be seen to what extent DiGA prices will follow the premise of value-based pricing. 相似文献
4.
Management of pulmonary aspergillosis in AIDS: an emerging clinical problem. 总被引:1,自引:0,他引:1
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J J Keating T Rogers M Petrou J D Cartledge D Woodrow M Nelson D A Hawkins B G Gazzard 《Journal of clinical pathology》1994,47(9):805-809
AIMS--To review the clinical, radiographic, and therapeutic features of 11 cases of respiratory Aspergillus infection in patients with AIDS. METHODS--All induced sputum and bronchoalveolar lavage samples obtained from HIV seropositive patients between January 1985 and March 1993 were analysed for Aspergillus species. Additionally, where appropriate, bronchial or renal biopsy specimens, or both, were taken before treatment had started. RESULTS--In 11 patients Aspergillus fumigatus was identified in alveolar samples obtained by sputum induction. This was confirmed by bronchoalveolar lavage in eight. Three patients had Aspergillus plaques in the trachea and bronchus, while a fourth patient had an aspergilloma. Risk factors for Aspergillus infection were present in all patients, including corticosteroid treatment in three cases and neutropenia in four, three of whom had received chemotherapy for Kaposi's sarcoma. Four patients had concomitant cytomegalovirus infection. Ten patients had a CD4 count of less than 50 cells/mm3 while one patient had a disseminated T cell lymphoma with a CD4 count of 242 cells/mm3. Of the three patients with samples obtained by sputum induction who did not undergo bronchoscopy, two had a normal chest x ray picture and the third had a right lobar pneumonia complicating an aggressive lymphoma. All three were treated with itraconazole 200 mg twice a day without further investigation. Survival from the time of diagnosis of Aspergillus infection was short: seven patients died within six weeks, although only one death was directly attributed to pulmonary aspergillosis. At six monthly follow up, one patient, who initially had a positive Aspergillus culture from bronchial washings and a normal chest radiograph, developed a renal aspergilloma despite the disappearance of Aspergillus sp from the sputum. CONCLUSION--Pulmonary aspergillosis is an important clinical problem in patients with AIDS with a CD4 count of less than 50 cells/mm. Furthermore, patients with Aspergillus sp in sputum induction or bronchial washings may develop disseminated disease despite adequate treatment of the primary infection. 相似文献
5.
Uncemented total hip replacements and thigh pain 总被引:1,自引:0,他引:1
G. Petrou M. Gavras A. Diamantopoulos T. Kapetsis N. Kremmydas A. Kouzoupis 《Archives of orthopaedic and trauma surgery》1994,113(6):322-326
We reviewed 51 uncemented total hip replacements (THRs) in 44 patients (mean age 62 years) and average postoperative follow-up period of 4 years. The evaluation system used was based on that of D'Aubigne-Postel-Charnley, and the excellent and very good results totalled over 90%. There were no revisions or aseptic loosenings, and only one late infection and one death due to cardiac infarction. Special attention was paid to the socalled thigh pain phenomenon which, despite current views, was found to be unexpectedly low (only one case) and also gone within 2 years. We feel that the design of the prosthesis used, its kind of alloy, the anatomic shape of the stem and the low modulus of the elasticity as well as the avoidance of the press fitting technique at the distal part of the stem are important factors in avoiding the stress shielding phenomenon and thigh pain. 相似文献
6.
E Kupek M Dooley L Whitaker S Petrou A Renton 《Social science & medicine (1982)》1999,48(10):1433-1440
We examined the influence of demographic, social and economic background of people with HIV/AIDS in London on total community and hospital services costs. This was a retrospective study of community and hospital service use, needs and costs based on structured questionnaires administered by trained interviewers and costing information obtained from the service purchasers and providers, based on two Genito-urinary Medicine clinics in London: the Jefferiss Wing at St. Mary's Hospital and Patric Clements at the Central Middlesex Hospital, London, England. The subjects were 225 HIV infected patients (105 asymptomatic, 59 symptomatic non-AIDS and 61 AIDS). We found that over and above well established determinants of health care costs for HIV infected people such as disease stage and transmission category, social and economic factors such as employment and support of a living-in partner significantly reduced community services costs. Private health insurance had a similar effect, though only a small proportion of HIV people had such cover. The cost of community services for HIV infected non-European Union nationals, mainly of African origin, was one quarter that for the European Union nationals. Community services costs were highest for heterosexually infected women and lowest for heterosexually infected men after adjusting for other factors. Hospital services costs were significantly higher for HIV infected people lacking educational qualifications and employment. We conclude that access to community care for HIV infected non-EU nationals appears to be very poor as the cost of their community services was one quarter that for the EU nationals after adjusting for the effects of transmission category, disease stage, living with a partner, employment and having a private health insurance. Additional incentives for informal care for HIV infected people could be a cost-effective way to improve their community health service provisions. 相似文献
7.
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9.
Detection of Neuropathic Pain in End‐Stage Cancer Patients: Diagnostic Accuracy of Two Questionnaires
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10.
Positive markers in AMA-negative PBC 总被引:5,自引:0,他引:5