A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefe`vre syndrome

Background: Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B. This activity was proposed to play a role in epithelial differentiation and desquamation. Mutations that cause Disruption in the CTSC expression or function will result in loss of immunological response such as defects of phagocytic function and deregulation of localized polymorphonuclears response with subsequent clinical manifestation.Aim: The aim of this study is to detect the mutation in CTSC gene expected to be the cause of Papillon Lefe`vre syndrome (PLS) in an Egyptian patient clinically diagnosed as PLS and to characterize the clinical features.Patient and methods: A 5 year and 3 month old girl from the outpatient’s Oro-Dental Genetics clinic – National Research Center presented with the typical clinical findings of Papillon Lefevre syndrome. Genomic DNA was extracted from peripheral blood samples of the patient, her parents and 20 healthy Egyptian controls using standard procedures. All exons of the CTSC gene were amplified by PCR. Sequence analysis of the patient, her parents and controls was performed for mutation detection.Results: Mutation analysis of the CTSC gene in our patient revealed a novel homozygous nonsense mutation in exon 5 (W237X). Her parents revealed the presence of the same mutation in a heterozygous state. The 20 controls showed only the wild type sequence of all exons (no mutation).Conclusion: This study reported a novel nonsense mutation in the CTSC gene in an Egyptian patient. This novel nonsense mutation is predicted to produce truncated dipeptidyl-peptidase1 causing PLS phenotype in this patient

Effect of Educational Program on Outcomes of Patients Undergoing Permanent Pacemakers’ Implantation

Contents: Patients undergoing permanent implantable pacemaker, challenge with multiple physical, psychological along with social complications. Teaching patients the essential points involving pacemaker management can prevent complications.Aim: The current study aimed to evaluate the effect of an educational program on outcomes of patients undergoing permanent pacemakers' implantation. Methods: A quasi-experimental pre/posttest and follow-up design were used to conduct this study. A convenient sample of 35 adult patients from both genders undergoing permanent pacemaker implantation was recruited from Beni-Suef University hospital's catheter lab, inpatient department, ICU, CCU, and outpatient cardiology clinic. Patients' interviewing questionnaire, patient performance checklist, pacemaker self-efficacy scale, and Aga Khan University Anxiety and Depression Scale were used to achieve this study's aim. Results: 91.4% of the studied patients had unsatisfactory total knowledge at the baseline, improved to 85.7% had a satisfactory knowledge immediately post educational intervention, and relatively maintained to 68.6% of them had a satisfactory level of total knowledge after four weeks of the program implementation. 97.1% of the studied patients had unsatisfactory total practice at the baseline, improved to 65.7% had a satisfactory practice immediately post educational intervention, and improved to 77.1% of them had a satisfactory level of total practice after four weeks of program implementation. 71.4%, and 85.7% of the studied patients were not confident at all with their ability to control symptoms and maintain their usual functions respectively before education. 91.4% of them reported a total low self-efficacy score before the educational intervention. In comparison, 45.7% were very confident in controlling symptoms and moderately confident in maintaining usual functions at the follow-up phase. Besides, 65.7 exhibited total high self-efficacy at the follow-up assessment. 57.1% of the studied patients exhibit severe anxiety at the baseline assessment, while 65.7% and 74.3% exhibit mild anxiety at the post and follow-up assessment. Conclusion: A statistically significant improvement in patients' knowledge, practice, self-efficacy, anxiety, and depression immediately and after four weeks compared to their baseline. The study recommended that the educational program be an essential part of the total management of patients undergoing implanted pacemakers

Egyptian agricultural trade pattern and competitiveness

As the globalization Era that has recently enveloped all world countries the domestic markets of each country has also been strongly amalgamated into the international market. Accordingly, the implications of the international trade on the domestic agricultural trade of each country have significantly emerged. However the extend of amalgamation and interaction, would mainly depend upon the trade pattern of that country. These patterns are subject to the influence of domestic as well as international trade policies and factors directly related to crops and the production of goods that can affect the trade of agricultural products. Therefore, the main objectives of this study are the identification of Egypt’s major trade partners, the analysis of the Egypt comparative advantages in agricultural trade, the competitiveness of the Egyptian agricultural exports with respect to the international markets, i.e. to how extend the Egyptian agricultural sector has a greater or lower share in total agricultural exports than they have in the world as a whole, and finally a quantitative outlook of agricultural markets. The law of comparative advantage refers to the ability of a party (an individual, a firm, or a country) to produce a particular good or service at a lower opportunity cost than another party. It is the ability to produce a product with the highest relative efficiency given all the other products that could be produced. Comparative advantage explains how trade can create value for both parties even when one can produce all goods with fewer resources than the other. The net benefits of such an outcome are called gains from trade

Egyptian Agricultural Exports Competitiveness

The study dealt with the competitiveness of Egypt’s agricultural exports for the major commodity groups: Meat and meat preparations, Dairy products and bird eggs, Cereals and cereals preparations, Vegetables and Fruits, Sugar, sugar preparations and honey, Feeding stuff of animals, Beverages, Tobacco, Oils and fats, and Textile fiber and their waste. The study has not restricted the estimated measure of the competitiveness to only the classical Revealed Comparative Advantage Index (RCA), it applied the other elaborated indices, in order to avoid unfavorable conclusions due to policy distortions and/or the export (supply) pattern and the Import (demand) pattern of the specified commodities. The relative export advantage index, [Ln(RXA)], results coincided with the RCA results in all food groups, which means that the “policy induced distortions” had the same impact on all studied food groups. The RTA (Relative Trade Advantage) and RC (Revealed Competitiveness) indices consist with the real world economic phenomenon of two ways trade, i.e. the price and quantity differences of exports and imports. If exports share in the world market either surpassed much the imports, due to the price (quality), quantity (magnitude), or if both were too small (the case of oils and fats) then the results of RTA and RC would be quite different but more reliable than RCA. The study provided evidences for such conclusion. It seems that RC gives the most reliable results, as it considers the resultant from both values of exports and the percent of imports covered by the exports. Thereof, RC introduced vegetables and fruits to the front of competitiveness of Egypt's exports, as such group showed the highest value of exports and the second order of the (Exports/Imports) %. It was followed by textiles and fiber crops at the second order of the exports value but the first order with respect to (Exports/Imports) %. Although the exports value of beverages group came at the fourth order after cereals and preparations, dairy products and Eggs and sugar products, it surpassed much all of them as (Exports/Imports) %, which was around 168%, while it was 20%, 18% and 5% for the other three groups. Thereof, both RTA and RC ranked sugar products as number 4 with respect to the comparative advantage. The analysis showing that the (Exports/Imports)% is the dominant criteria in ranking the agro-food groups according to the competitiveness and that RC is the most sensitive index, particularly when we go gradually down to the agro-food groups with smaller and smaller export values. Therefore, it looks reasonable, to see dairy products (Exports/Imports) of about 18% comes number 5 followed by cereals of (Exports/Imports)% around 5%, where RTA, as it gives more importance to the volume of exports, ranked them in an opposite order. The best -fitted ARIMA model applied for Egyptian Fruits and Vegetables Exports was (0, 1, 1). Forecasting results implies that the comparative export advantage of Egyptian Fruits and Vegetables to the world market seems to decrease over the forthcoming decade. The best-fitted ARIMA model applied for Egyptian Textile and Fiber Exports was (0, 0, 1). Forecasting results implies that the comparative export advantage of Egyptian textiles and fiber crops to the world market seems to decrease over the forthcoming decade. The best-fitted ARIMA model applied for Egyptian Sugars and Honey exports was (1, 1, 2). Forecasting results implies that the comparative export advantage of Egypt in Sugar and Honey (Sugar processed products) to the world market seems to increase slightly over the forthcoming decade, with moderate fluctuation

Role of buffalo in international trade

Although buffalo populations expand in 43 courtiers in the world, only four countries are producing more than 98% of the world buffalo milk in 2007 and around 73% of the world buffalo meat in the same year. These are China, India, Pakistan, and Egypt. Egypt is almost the only country in Africa that raises buffalo. There was a growth rate in the number of milking buffaloes and the percentage of milking buffaloes in the total stock is around 44%. The average annual milk yield per head increased from 957 kilograms in 1991 to about 1394 in 2007, at an annual growth rate 3%. There was an increase in the number of slaughtered animals at 1.5% a year, associated with an increase in the average carcass weight from 133 Kg to 174 Kg at annual rate of 1.9%. The buffaloes in Africa produce 50% of milk and 42% of red meat. The buffalo systems recognize higher profitability and return to investment, and lower net production costs of milk (4% fat), than both local and exotic cattle breeds. Egypt has apparent comparative advantage in producing milk rather than meat from buffalo. Therefore, the development plan should focus upon raising buffalo milk productivity, making meat production as a secondary joint product. Buffalo production is an approach towards rural development. Rural women have a major role in either decision making or labor share of buffalo enterprising. The progressive buffalo farms showed potential productive and reproductive performances. They are nucleus farms providing the traditional farms with improved genetic makeu

Role of buffalo in international trade

Although buffalo populations expand in 43 courtiers in the world, only four countries are producing more than 98% of the world buffalo milk in 2007 and around 73% of the world buffalo meat in the same year. These are China, India, Pakistan, and Egypt. Egypt is almost the only country in Africa that raises buffalo. There was a growth rate in the number of milking buffaloes and the percentage of milking buffaloes in the total stock is around 44%. The average annual milk yield per head increased from 957 kilograms in 1991 to about 1394 in 2007, at an annual growth rate 3%. There was an increase in the number of slaughtered animals at 1.5% a year, associated with an increase in the average carcass weight from 133 Kg to 174 Kg at annual rate of 1.9%. The buffaloes in Africa produce 50% of milk and 42% of red meat. The buffalo systems recognize higher profitability and return to investment, and lower net production costs of milk (4% fat), than both local and exotic cattle breeds. Egypt has apparent comparative advantage in producing milk rather than meat from buffalo. Therefore, the development plan should focus upon raising buffalo milk productivity, making meat production as a secondary joint product. Buffalo production is an approach towards rural development. Rural women have a major role in either decision making or labor share of buffalo enterprising. The progressive buffalo farms showed potential productive and reproductive performances. They are nucleus farms providing the traditional farms with improved genetic makeu

Light and electron microscopic study on the effect of antischizophrenic drugs on the structure of seminiferous tubules of adult male albino rats

Introduction. Sexual dysfunction and infertility are symptoms which have been rarely studied in patients treated with antischizophrenic drugs, aripiprazole and olanzapine, for long period. This work aimed to investigate the effects of aripiprazole and olanzapine on the structure of seminiferous tubules of rats at both light microscopic and ultrastructural levels. Material and methods. Sixty adult male rats were divided into 3 groups (n = 20): control group (Group I) and two experimental ones (II and III). Rats in Group II received 2 mg/kg/day aripiprazole while rats in Group III received 0.5 mg/kg/day olanzapine for 14 weeks. Thereafter, testis were removed and processed for both light and electron microscopic study. Qualitative morphological analyses and histomorphometric measurements of seminiferous tubules were performed. Results. Rats in Group II showed reduction of testicular weight, seminiferous tubules’ diameter, epithelial height, spermatogenic count, spermatogenic index and spermatogenic score whereas Sertoli cells count was increased. Olanzapine-treated rats also showed epithelial desquamation, separation and apoptotic changes of germ cells. Sertoli cells showed vacuolization, dilatation of smooth endoplasmic reticulum and accumulation of lipid droplets. Abnormality in the shape and structure of late spermatids and presence of giant cells were also demonstrated. Aripiprazole induced less adverse histological changes in rat testis than olanzapine. Conclusions. Olanzapine followed by aripiprazole had adverse histological effects on the structure of the semi­niferous tubules, which may affect spermatogenesis

Reduced glomerular filtration rate as a predictor of coronary artery disease events in elderly patients

Background: Chronic kidney disease is independently associated with cardiovascular disease (CVD) events in high-risk populations according to several studies. However, findings from community-based population studies are insufficient. We studied the relationship between estimated glomerular filtration rate (eGFR) and risk of coronary artery disease (CAD) events in patients attending Zagazig University Hospital, Sharqiya governorate, Egypt.Methods: A total of 800 subjects aged ≥ 60 years admitted to Internal Medicine Department or attended medicine outpatient clinic were included in this study. Careful history and full clinical examinations were done to assess the risk factors of CAD. Serum creatinine, lipid profile and serum glucose were measured. Estimated eGFR was evaluated by creatinine based MDRD formula. According to eGFR, patients were divided into 2 groups: group 1 with eGFR ≥ 60 mL/min/1.73 m2 and Group 2 with eGFR < 60 mL/min/1.73 m (between 40 and 60 mL/min/1.73 m).Results: 410 patients were found to have eGFR P 60 mL/min/1.73 m2, while 390 patients were found to have eGFR < 60 mL/min/1.73 m2. eGFR was lower in patients with CAD (62 ± 13 mL/min/1.73 m2) in comparison with patients without CAD (76 ± 11 mL/min/1.73 m2) (P  ≤ 0.001). Older age, hypertension, Diabetes and Low HDL are highly significant risk factors for CAD in those patients (P 0.001).Conclusions: Reduced eGFR is a significant risk factor for CAD events in older patients. Monitoring of eGFR may have a pivotal role in early detection and management of CAD in those types of patients.Keywords: Coronary artery disease; Glomerular filtration rate; Elderl