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The current study reports the first family with confirmed myofibrillar myopathy MFM in the Middle East and the third family worldwide. This study highlights the importance of considering MFM in young patients presenting with idiopathic cardiomyopathy, arrhythmia or atrioventricular block in the Gulf states. This is the first report that presented 2 different types of cardiomyopathy and 2 different indications of permanent pacemaker placement in the same generation of a family with MFM. This report studies a Qatari family consisting of one brother and 3 sisters. The brother had restrictive cardiomyopathy at the age of 16 years. One sister underwent heart transplantation for severe hypertrophic cardiomyopathy at the age of 15 years, the other sister had permanent pacemaker for complete heart block at the age of 21 years. This report is focused mainly on the clinical presentation and investigations carried out for the brother including echocardiogram, cardiac catheterization, cardiac and skeletal muscle biopsy, and electromyography and electrophysiology studies. The study findings support the diagnosis of MFM. 相似文献
144.
Allahham A Stewart P Marriott J Mainwaring DE 《International journal of pharmaceutics》2004,270(1-2):139-148
A micro-capillary rheometer consisted of a fine needle with an internal diameter of 347 μm attached to a 1 ml removable-needle syringe within an Instron device that operated in compression mode to provide various crosshead speeds ranging from 150 to 950 mm min−1 covering typical clinical injection rates, and that determined the resulting force on the plunger. The crosshead speed and the resulting force were used to calculate the shear rate and the shear stress respectively. These were used in standard capillary flow expressions together with an independent measurement of the wall frictional force and allowed the viscosity of parenteral Newtonian solutions and non-Newtonian suspensions to be measured quantitatively and their rheological behaviour in needles of clinical dimensions to be established. Commercial pharmaceutical parenteral formulations consisting of three oil-based solutions and three aqueous suspensions were chosen for this study. The net injection forces were also obtained and it was shown that both the oil-based solutions and the aqueous suspensions covered similar ranges. The viscosities for the parenteral solutions were determined from the slope of the linear regression (R2>0.97) between shear stress and shear rate and ranged between 0.029 and 0.060 Pa s. For the aqueous suspensions examined, viscosities decreased from low shear rate to high shear rate, following a power-law model and indicating a pseudo plastic behaviour. Standardisation of the micro-capillary rheometer with Newtonian silicone oils calibrated with a Rheometrics Fluids Spectrometer showed viscosity values consistent between the rotational flow measurements and capillary flow measurements which were within 5% and showed very high degrees of reproducibility between replicate samples. This degree of reproducibility allowed differences in the contribution of the wall frictional force to the required plunger force for both the oil-based and aqueous parenteral formulations to be determined reliably. The wall frictional force values for all formulations were similar (0.6–1.6 N) but the frictional forces of aqueous systems were found to decline significantly with plunger speed. The micro-capillary rheometer has been used to evaluate the impact of concentration changes due to sedimentation on the injectability of one of the aqueous suspensions, where it was shown that not only the viscosity increased but the shear thinning behaviour ceased at higher shear rates. The micro-capillary rheometer which was able to operate in clinical shear rate ranges has been shown to detect deteriorations in the injectable rheology of suspensions, which in the case here was due to pre-injection sedimentation. 相似文献
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146.
Localised Ewing sarcoma/PNET of bone--prognostic factors and international data comparison 总被引:4,自引:0,他引:4
Jenkin RD Al-Fawaz I Al-Shabanah M Allam A Ayas M Khafaga Y Memon M Rifai S Schultz H Younge D 《Medical and pediatric oncology》2002,39(6):586-593
BACKGROUND: To determine if the distribution of prognostic factors accounted for the differences when the outcome for localised Ewing Sarcoma/PNET bone in Saudi Arabia was compared with results from countries with well developed health care systems. PROCEDURE: Retrospective analysis was undertaken of 163 consecutive patients of all ages, treated with radical intent at KFSHRC from 1975 to 1998. Standard chemotherapy was commenced in all patients. The local treatment modality was resection +/- radiation in 30% and radiation treatment alone in 67%. Size data were available for 51 patients treated from 1994 to 1998, inclusive. One third of these patients had tumors with volume >500 ml. RESULTS: Three year survival significantly increased with the year of diagnosis, 1975-1988 45%; 1989-1993 55%; and 1993-1998 63% (P = 0.006). Favorable prognostic factors were age < or =14 (P = 0.07); site, distal extremity, and skull (P = 0.08); and volume < or = 200 ml (P = 0.06). Secondary prognostic factors were response to induction chemotherapy, both histological, 100% necrosis, (P = 0.04) and clinical CR+PR, (P = 0.02). From 1994 to 1998, 3 year survival for tumors in the distal extremity and skull was 80% and for small tumors, < 200 ml, at any site was 82%. In comparison, the 3 year survival for patients with tumors at any other sites was 60%, and for tumors >200 ml, 55%. CONCLUSIONS: Overall survival progressively improved. From 1994 to 1998 the survival of patients with small tumors and/or favorable sites was similar to the best reported results. It was not possible to compare results by tumor size for large tumors, > 500 ml, due to the absence of data from elsewhere. A better staging system is required for the international comparison of results. 相似文献
147.
Herpes zoster virus sclerokeratitis and anterior uveitis in a child following varicella vaccination 总被引:2,自引:0,他引:2
PURPOSE: To report a case of herpes zoster virus sclerokeratitis with anterior uveitis following vaccination with live attenuated varicella vaccine (Oka strain). DESIGN: Case report. METHODS: The case records of the patient were reviewed retrospectively. Pertinent literature citations were identified using MEDLINE. RESULTS: A 9-year-old boy presented with herpes zoster ophthalmicus 3 years following vaccination with live attenuated varicella vaccine (Oka strain). Examination of the affected eye revealed a moderate follicular response on the palpebral conjunctiva, decreased corneal sensation, mildly elevated intraocular pressure, diffuse anterior scleritis with marginal keratitis, and a moderately severe anterior uveitis. Amplified DNA from fluid taken from the base of a cutaneous vesicle produced wild-type varicella zoster virus (VZV) DNA, not Oka strain. CONCLUSIONS: Herpes zoster virus infection needs to be considered in all patients who present with scleritis, keratitis, or anterior uveitis, regardless of their varicella vaccination status. 相似文献
148.
Najib NM Idkaidek N Adel A Admour I Astigarraga RE Nucci GD Alam SM Dham R Qumaruzaman 《Biopharmaceutics & drug disposition》2003,24(5):183-189
The pharmacokinetics of two brands of simvastatin 40 mg tablets were compared in 24 healthy human volunteers after a single oral dose in a randomized cross-over study, conducted at IPRC, Amman, Jordan. Reference (Zocor, MSD, Netherlands) and test (Simvast, Julphar, UAE) products were administered to fasted volunteers; blood samples were collected at specified time intervals, plasma separated and analyzed for simvastatin and its active metabolite (beta-hydoxy acid) using a validated LC-MS/MS method at Cartesius Analytical Unit, Institute of Biomedical Sciences - USP, Sao Paulo, Brazil. The pharmacokinetic parameters AUC(0-t), AUC(0-variant), C(MAX), T(MAX), T(1/2) and elimination rate constant were determined from plasma concentration-time profile for both formulations and were compared statistically to evaluate bioequivalence between the two brands, using the statistical modules recommended by FDA. The analysis of variance (ANOVA) did not show any significant difference between the two formulations and 90% confidence intervals fell within the acceptable range for bioequivalence. Based on these statistical inferences it was concluded that the two brands exhibited comparable pharmacokinetic profiles and that Julphar's Simvast is bioequivalent to Zocor of MSD, Netherlands. 相似文献
149.
Parvez T Allam AR Iskandrani A Khan MA 《Journal of the College of Physicians and Surgeons--Pakistan : JCPSP》2003,13(8):483-490
Lung cancer is the leading cause of cancer deaths all over the world. As most patients present with advanced disease, major efforts have been made in the treatment of such disease with systemic chemotherapy. Several new agents and new combinations of chemotherapy have been developed recently. This article reviews the randomized clinical trials investigating chemotherapy for advanced non small-cell lung cancer (NSCLC) in relapse or progressive disease while being treated and in elderly patients. Therapies that incorporate new biological agents to target specific defects in lung cancer are also discussed. Several clinical trials have demonstrated improvement in overall survival as well as quality of life with presently available chemotherapy treatment of advanced NSCLC. Better options are available for the elderly as well as those having relapse after first-line chemotherapy. Despite all this progress the 5-year survival rate still remains at a dismal 14%. New therapies with good results are still desired. 相似文献
150.
Bcl-2 Is a Useful Prognostic Marker in Dukes’ B Colon Cancer 总被引:2,自引:0,他引:2
Meterissian SH Kontogiannea M Al-Sowaidi M Linjawi A Halwani F Jamison B Edwardes M 《Annals of surgical oncology》2001,8(6):533-537
Background: Currently, the use of adjuvant therapy specifically in Dukes B colon cancers is controversial, emphasizing the importance of identifying prognostic markers to select patients for such therapy. Bcl-2 plays an important role in apoptosis regulation of solid tumors, such as colon and breast cancer, and is normally expressed in the base of the colonic crypts. The purpose of this study is to determine whether or not bcl-2 expression can be used to predict survival in Dukes B colon cancer patients.Methods: Charts of 76 patients operated on at the Royal Victoria Hospital from 1986 to 1992 were reviewed. Bcl-2 staining was done with the avidin-biotin-peroxidase complex method using commercially available monoclonal bcl-2 antibodies. Two pathologists graded the intensity of bcl-2 staining on a scale of 0–3 and estimated the percentage of tumor cells staining positively (T-percent). Univariate and multiple regression of factors on overall survival (OS) and disease-free survival (DFS) was done with a Cox proportional hazards model and Kaplan-Meier survival curves.Results: The mean age was 71.2 years, with 41 female and 35 male patients. Mean tumor size was 5.4 cm with tumor grades of 19 well, 52 moderate, and 5 poorly differentiated. Tumors expressing bcl-2 had a similar DFS (P = .14) but a significantly improved OS (P = .04) compared with the bcl-2 negative tumors. The risk ratio for DFS was 0.49 (95% CI, 0.19–1.26) and for OS was 0.35 (95% CI, 0.13–0.94).Conclusions: These data indicate that enhanced bcl-2 expression, specifically in Dukes B colon carcinomas, is associated with improved survival. Thus, patients whose tumors do not express bcl-2 should be considered for adjuvant therapy.Presented at the 51st Annual Meeting of the Society of Surgical Oncology, San Diego, California, March 26–29, 1998. 相似文献