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1.
Effat L Kuzmin A Kasem N Meguid NA Kotb S Eisensmith RC Temtamy SA Rushdi S Woo S el-Awady M 《European journal of human genetics : EJHG》1999,7(2):259-262
A high degree of molecular heterogeneneity at the phenylalanine hydroxylase (PAH) locus was established by examining RFLP haplotypes and PAH mutations in the families of 13 Egyptians with phenylketenouria (PKU). Thirteen different haplotypes were unequivocally determined in these kindreds. Haplotypes 1.8, 3.9, 4.3, 7.8, 22.11, 27.6, and 52.8 were found segregating with normal chromosomes, whilst haplotypes 1.8, 5.9, 23.8, 32.8, the newly assigned 73.9, and two as yet incomplete but novel haplotypes were found segregating with the mutant chromosomes. There was no particular preference for a single haplotype among normal or mutant chromosomes. Nine different mutations were also identified among the 26 alleles. IVS 10nt11g (8/26), IVS 2nt5g-c (4/26), R261Q (3/26), R176X (2/26), Y206D (2/26), S231P (2/26), Y198fs [593-614del22bp]; (2/26), G46fs [136/137delG]; (1/26), and E178G (1/26). Six of these mutations (IVS 2nt5g-c, R176X, Y198fs, R261Q, S231P, and IVS 10nt11g) are common to other Mediterranean populations. Two mutations not previously reported in the Mediterranean basin were also observed (Y206D and G46fs). These intriguing preliminary findings confirm IVS 10nt11g as a major mutation among Mediterranean mutations and demonstrate the need for a more comprehensive study of Arab populations to confirm the uniqueness of the two novel mutations to the Egyptian population. 相似文献
2.
Noha M. El Husseiny Neemat Kasem Hamdy Abd El Azeeim Mervat W. Mattar 《Annals of hematology》2014,93(1):141-145
Multiple myeloma is a neoplasm of plasma cells that results in the overproduction of light and heavy chain monoclonal immunoglobulins. The incidence rate increases with age, particularly after 40 years, and is higher in men. To determine the clinical and laboratory characteristics and survival of diagnosed Egyptian multiple myeloma patients admitted to the Haemato-Oncology Department between 2000 and 2010. Records of all patients in whom multiple myeloma was diagnosed at the Kasr Al Aini Hospital between 2000 and 2010 were included in this retrospective study. The mean age of patients was 58.5 years (range, 27–80 years). Fifty-nine percent were males. The majority of patients (73 %) had an immunoglobulin G monoclonal band and 70 % were Kappa chain-positive. Mean overall survival was 37.5 months (range, 1–84 months). Survival analysis was statistically insignificant with respect to age, sex, International Staging System and type of treatment (p?>?0.05). Our records were largely comparable to those reported in Chinese studies but different from those noted in Western and Arabic countries. 相似文献
3.
Rungroj Krittayaphong Prasart Laothavorn Kriengkrai Hengrussamee Sopon Sanguanwong Rapeephon Kunjara-Na-Ayudhya Kasem Rattanasumawong Chulaluk Komoltri Piyamitr Sritara Thai ADHERE Registry Group 《Singapore medical journal》2020,61(6):320
INTRODUCTIONData on the long-term outcomes of Asian patients admitted for acute decompensated heart failure is scarce. The objectives of this study were to determine short-term, intermediate-term and long-term survival among patients admitted for acute decompensated heart failure in Thailand, and to identify factors independently associated with increased mortality.METHODSPatients who were admitted with a primary diagnosis of heart failure were enrolled in the Thai Acute Decompensated Heart Failure Registry (ADHERE) from 18 hospitals located across Thailand during 2006. Medical record data was collected according to ADHERE protocol. Mortality data was collected from death certificates on file at the Thailand Bureau of Registration Administration.RESULTSA total of 1,451 patients were included. The mean age of the patients was 63.7 ± 14.4 years, and 49.7% were male. One-year, five-year and ten-year mortality rates in Thai patients admitted for acute decompensated heart failure were 28.0%, 58.2% and 73.3%, respectively. Independent predictors of increased mortality were identified. There were more cardiovascular-related deaths than non-cardiovascular-related deaths (54.6% vs. 45.4%, respectively).CONCLUSIONSThe ten-year mortality rate in Thai patients admitted for acute decompensated heart failure was 73.3%. Many factors were found to be independently associated with increased mortality, including left ventricular ejection fraction. 相似文献
4.
The distribution patterns of malaria incidence at a village level in Thailand were demonstrated with the use of a geographical information system (GIS), and provided the study of the malaria situation at a household level. Mosaic imageries from aerial photographs were used to create maps that contained X and Y coordinates. These digitized base maps were kept as computerized files. Standard Distance Ellipse (SDE) was used to measure the prevalence of dispersion around the mean center of malaria cases and points. Households in the SDE were at greater risk of malaria infection than those located outside the SDE. The spatial pattern of malaria incidence was investigated using spatial autocorrelation using Geary's ratio and Moran's index. Five of seven villages had a clustered spatial distribution of malaria incidence, the vector point of which had a 2-3 km range from the patient's houses. Only one village had a significant clustered spatial distribution of malaria incidence (p < 0.05). Control efforts should be focused on high-risk areas, especially those households with the heaviest caseloads. This approach would probably be more cost effective than the conventional malaria control methods. This SDE analytical technique would be a novel and useful epidemiological control method for use by public health administrators. The ellipsoidal areas required malaria control intervention. 相似文献
5.
Antimycobacterial anthraquinone-chromanone compound and diketopiperazine alkaloid from the fungus Chaetomium globosum KMITL-N0802 总被引:1,自引:0,他引:1
Kanokmedhakul S Kanokmedhakul K Phonkerd N Soytong K Kongsaeree P Suksamrarn A 《Planta medica》2002,68(9):834-836
Investigation of the fungus Chaetomium globosum KMITL-N0802 led to the isolation of a novel anthraquinone-chromanone compound named chaetomanone along with seven known compounds, ergosterol, ergosteryl palmitate, chrysophanol, chaetoglobosin C, alternariol monomethyl ether, echinuline and isochaetoglobosin D. These compounds were characterized by spectroscopic methods. Chaetomanone and echinulin exhibited activity towards Mycobacterium tuberculosis. 相似文献
6.
Cassidy J Smith J Goldman A Haynes S Smith E Wright C Haworth S Davis P Firmin R Kasem K Davis C 《The Journal of pediatrics》2002,141(3):426-428
A 3-year retrospective study of 173 neonates treated with extracorporeal membrane oxygenation in the United Kingdom identified 9 cases of irreversible lung dysplasia, including alveolar capillary dysplasia (n = 5), surfactant protein B deficiency (n = 1), pulmonary hypoplasia (n = 1), pulmonary lymphangiectasis (n = 1), and combined lymphangiectasis and hypoplasia (n = 1). 相似文献
7.
Sack RB Siddique AK Longini IM Nizam A Yunus M Islam MS Morris JG Ali A Huq A Nair GB Qadri F Faruque SM Sack DA Colwell RR 《The Journal of infectious diseases》2003,187(1):96-101
How Vibrio cholerae spreads around the world and what determines its seasonal peaks in endemic areas are not known. These features of cholera have been hypothesized to be primarily the result of environmental factors associated with aquatic habitats that can now be identified. Since 1997, fortnightly surveillance in 4 widely separated geographic locations in Bangladesh has been performed to identify patients with cholera and to collect environmental data. A total of 5670 patients (53% <5 years of age) have been studied; 14.3% had cholera (10.4% due to V. cholerae O1 El Tor, 3.8% due to O139). Both serogroups were found in all locations; outbreaks were seasonal and often occurred simultaneously. Water-use patterns showed that bathing and washing clothes in tube-well water was significantly protective in two of the sites. These data will be correlated with environmental factors, to develop a model for prediction of cholera outbreaks. 相似文献
8.
Hiba El Hage Chehade Umar Wazir Kinan Mokbel Abdul Kasem Kefah Mokbel 《American journal of surgery》2018,215(1):171-178
Introduction
Decision-making regarding adjuvant chemotherapy has been based on clinical and pathological features. However, such decisions are seldom consistent. Web-based predictive models have been developed using data from cancer registries to help determine the need for adjuvant therapy. More recently, with the recognition of the heterogenous nature of breast cancer, genomic assays have been developed to aid in the therapeutic decision-making.Methods
We have carried out a comprehensive literature review regarding online prognostication tools and genomic assays to assess whether online tools could be used as valid alternatives to genomic profiling in decision-making regarding adjuvant therapy in early breast cancer.Results and conclusions
Breast cancer has been recently recognized as a heterogenous disease based on variations in molecular characteristics. Online tools are valuable in guiding adjuvant treatment, especially in resource constrained countries. However, in the era of personalized therapy, molecular profiling appears to be superior in predicting clinical outcome and guiding therapy. 相似文献9.
10.
Yang W Gauthier KM Reddy LM Sangras B Sharma KK Nithipatikom K Falck JR Campbell WB 《Hypertension》2005,45(4):681-686
5,6-epoxyeicosatrienoic acid (5,6-EET) is a cytochrome P450 epoxygenase metabolite of arachidonic acid that causes vasorelaxation. However, investigations of its role in biological systems have been limited by its chemical instability. We developed a stable agonist of 5,6-EET, 5-(pentadeca-3(Z),6(Z),9(Z)-trienyloxy)pentanoic acid (PTPA), in which the 5,6-epoxide was replaced with a 5-ether. PTPA obviates chemical and enzymatic hydrolysis. In bovine coronary artery rings precontracted with U46619, PTPA (1 nmol/L to 10 micromol/L) induced concentration-dependent relaxations, with maximal relaxation of 86+/-5% and EC50 of 1 micromol/L. The relaxations were inhibited by the cyclooxygenase inhibitor indomethacin (10 micromol/L; max relaxation 43+/-9%); the ATP-sensitive K+ channel inhibitor glybenclamide (10 micromol/L; max relaxation 49+/-6%); and the large conductance calcium-activated K+ channel inhibitor iberiotoxin (100 nmol/L; max relaxation 38+/-6%) and abolished by the combination of iberiotoxin with indomethacin or glybenclamide or increasing extracellular K+ to 20 mmol/L. Whole-cell outward K+ current was increased nearly 6-fold by PTPA (10 micromol/L), which was also blocked by iberiotoxin. Additionally, we synthesized 5-(pentadeca-6(Z),9(Z)-dienyloxy)pentanoic acid and 5-(pentadeca-3(Z),9(Z)-dienyloxy)pentanoic acid (PDPA), PTPA analogs that lack the 8,9 or 11,12 double bonds of arachidonic acid and therefore are not substrates for cyclooxygenase. The PDPAs caused concentration-dependent relaxations (max relaxations 46+/-13% and 52+/-7%, respectively; EC50 1micromol/L), which were not altered by glybenclamide but blocked by iberiotoxin. These studies suggested that PTPA induces relaxation through 2 mechanisms: (1) cyclooxygenase-dependent metabolism to 5-ether-containing prostaglandins that activate ATP-sensitive K+ channels and (2) activation of smooth muscle large conductance calcium-activated K+ channels. PDPAs only activate large conductance calcium-activated K+ channels. 相似文献