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

RETROPUBIC PROSTATECTOMY IN 96 PATIENTS IN SOBA UNIVERSITY HOSPITAL

Background: Retropubic prostatectomy(RPP), is a good treatment option for  men with symptomatic bladder outlet obstruction caused by large size prostate. Objective: To determine the intraoperative, early and late postoperative complications of retropubic prostatectomy. Methods :This is a retrospective, small-scale hospital based study conducted in Soba University Hospital, Sudan. We include 96 patients, from Jan 2003 to Jan 2008 who underwent RPP. Results: The mortality rate was zero. Retrograde ejaculation in 50.1% , clot retention due to catheter block in 36.5% and transient urinary incontinence in 24%,  all were improved within the first three months postoperatively and intraoperative bleeding was reported in 9 patients (10%). Erectile dysfunction in 7.5% , wound  infection in 6.3% , urethral stricture  in 5.2% ,urine leakage in  4.2% and injury to adjacent  structures(peritoneum–bowel) was not reported.  Conclusion: The complications of retropubic prostatectomy  in Soba Hospital was found to be comparable to the literature

CHOLEDOCHAL CYST DIAGNOSTIC AND OPERATIVE CHALLENGE

The variations in the morphological characteristics of the extra-hepatic biliary system are numerous. It has been stated that the extra-hepatic biliary system has more anomalies in one cubic centimeter of the space around the region of the cystic duct than any other part of the body (1,2). The incidence of congenital anomalies of the extra-hepatic biliary system varies between 0.58% and 47.2% (3).One such rare anomaly is Choledochal cyst ( CDC), also known as congenital common bile duct cyst (BDC), is a rare type of bile duct cyst of uncertain origin. The majority of cases reported are young women and children of Asian descent. In North America, its incidence is estimated to be 1/150 000(2), but it is increasing in Western adults. The most common symptoms of CDC are abdominal pain, jaundice and abdominal mass.(4

Quality of life of Sudanese Patients with Benigan Prostatic Hyperplasia. The Oblivious Problem

Background: Although the IPSS and QOL index are universally used, they can only quantify the severity of lower urinary tract symptoms suggestive of benign prostate hyperplasia (BPH) and evaluate treatment efficacy, but cannot fully reflect the overall quality of life. Moreover, because QOL scale depends on the culture background, it is necessary to develop a Sudanese version of the scale. Objective: To evaluate the impact of BPH on the quality of life by assessing the physical, mental and stress states among patients of BPH. Methodology: This study was conducted on 424 patients with BPH in Gezira Hospital for Renal Disease and Surgery (GHRDS), Sudan. The study was cross-sectional, prospective small-scale hospital based study using simple random sampling technique. The subjects were limited to the Sudanese patients, who could hear and answer the questions of the questionnaire independently and that was done for accuracy and privacy. Taking the patient's educational level into account, all items were expressed in spoken language. The data collection tool was a questionnaire which was modified to twelve items from the BPH Quality of Life Index. Results: The majority 386 patients, 91% were physically fit. The pattern of urination was bothering to their daily life of around 320 patients/75.5%, 225 patients/53.1% of patients were worried about the outcome of the disease, 259 patients/61.1% were not concerned of having prostate cancer and 332 patients/78.2% were satisfied with their sleep. The sexual life had been affected in 201 patients/47.4%. The physical state was assessed by the ability of the patient to pray Friday Jomaa at the mosque which was 85.8% and also by attending important Sudanese obliging social activities like condolence which was (91.9%) of the patients. Conclusion: The impact of BPH on quality of life was obviously significant in the three domains; physical, mental and stress state among patients of BPH in GHRD&S.There should be a validated scale for the BPH Quality of Life Index addressing the traditional strata for Sudanese patients.           &nbsp

The Accuracy of FNAC for Diagnosis of Breast Carcinoma in Gezira State, Central Sudan

Background: Breast cancer is a leading cause of death in many countries worldwide and breast lesions remain a common diagnostic dilemma. Fine-needle aspiration cytology (FNAC) has been suggested as the most important, first line, minimally invasive procedure in the management of patients with breast lesions. Objective: The aim of this study is to assess the diagnostic efficacy of breast FNAC in patients with breast lesions compared with that of the definitive histological diagnasis. Materials and Methods: This is a hospital-based retrospective study of 112 breast FNAC samples were carried out at Cancer Institute in Medani Gezira state.  FNAC findings were correlated with data from histopathology records to determine the sensitivity and specificity of FNAC. Results: Age group of the patients ranged from 26 to 80 years with mean of 42 years. Among the study subjects (112 case), ductal carcinoma is the common hitological finding 83/88 (94%). According to the cytology, 79% were malignant, 4% were benign and 2% were suspicious. Histological correlation was done in 68 cases. The overall diagnostic accuracy of FNAC was 92.3%, with sensitivity and specificity of 89.2% and 66.5% respectively.  Conclusion: FNAC of breast is asimple, cost effective and less traumatic method for diagnosing breast cancer. It is highly sensitive and accurate, and can reduce the needs for open biopsies. It is recommended that FNAC should be used as a first line method for determining the nature of breast lumps. &nbsp

Evaluation of Podocalyxin level in pre-eclampsia with severe features' patients: a cross-sectional study

Background: This study aims to evaluate the level of podocalyxin (PCX) in preeclampsia with severe features patients and correlate it with the results of laboratory tests.Methods: The current study was a cross-sectional study conducted in Assiut Women Health Hospital between April and October 2018.  The study included 60 patients divided into two groups; Group (A): 30 patients diagnosed to have preeclampsia with severe features and Group (B): 30 patients as normal control group. Complete laboratory investigations with measurements of the PCX level was performed for all study participants.Results: No statistically significant difference between the study group and control group according to blood urea (p= 0.339) and serum creatinine (p= 0.801).There was statistically significant difference between the study group and control group according to PCX level (p= 0.001); the mean PCX was 3340.0 ± 2394.6 in the study group versus 1083.5±1400.2 in the control group. Univariate analysis revealed podocalyxin was not correlated with clinical data or laboratory investigations.Conclusions: Podocalyxin levels were significantly elevated in preeclampsia

A New Chaotic System with Line of Equilibria: Dynamics, Passive Control and Circuit Design

A new chaotic system with line equilibrium is introduced in this paper. This system consists of five terms with two transcendental nonlinearities and two quadratic nonlinearities. Various tools of dynamical system such as phase portraits, Lyapunov exponents, Kaplan-Yorke dimension, bifurcation diagram and Poincarè map are used. It is interesting that this system has a line of fixed points and can display chaotic attractors. Next, this paper discusses control using passive control method. One example is given to insure the theoretical analysis. Finally, for the  new chaotic system, An electronic circuit for realizing the chaotic system has been implemented. The numerical simulation by using MATLAB 2010 and implementation of circuit simulations by using MultiSIM 10.0 have been performed in this study

DEPREM KUVVETİNE ESAS SPEKTRAL İVME DEĞERLERİNİN TBDY 2018 ve TDY 2007’ye GÖRE KARŞILAŞTIRILMASI

DEPREM KUVVETİNE ESAS SPEKTRAL İVME DEĞERLERİNİN TBDY 2018 ve TDY 2007’ye GÖRE KARŞILAŞTIRILMASI ÖzetYapılara etkiyecek deprem yükleri statik ve dinamik analiz yöntemleri olmak üzere, iki farklı şekilde belirlenmektedir. Analizleri kolaylaştırmak amacıyla dinamik analiz yöntemleri yerine, statik bir analiz yöntemi olan spektral analiz yöntemi daha yaygın bir şekilde kullanılmaktadır. Burada daha gerçekçi ve karmaşık bir yöntem yerine daha sade olan bir statik analiz yöntemi tercih edilirken kullanılan tepki spektrumları, günümüz deprem yönetmeliklerinde, tasarım spektrumu olarak önerilmektedir. Bu çalışmada, Türk Deprem Yönetmeliği 2007 (TDY 2007) ve Türkiye Bina Deprem Yönetmeliği 2018 (TBDY 2018)’de tanımlanan spektral ivme değerleri ile zemin hâkim periyotları, risk durumuna göre dört farklı il ve farklı zemin sınıfları için elde edilmiştir. TDY 2007’de tanımlanan deprem bölgelerine göre seçilen iller Kocaeli, Eskişehir, Kayseri, Konya olarak belirlenmiştir ve bu bölgeler için tanımlanan etkin yer ivme katsayıları kullanılmıştır. Diğer taraftan, TBDY 2018 için bu değerler, bu illerin merkez koordinatları dikkate alınarak Afet ve Acil Durum Yönetim Başkanlığı (AFAD) kurumunun internet sitesinde yer alan deprem ivme haritasından elde edilmiştir. Dört farklı il ve farklı zemin sınıfları için TDY 2007 ve TBDY 2018’de yer alan tasarım spektrumlarından elde edilen spektral ivme değerleri arasında bir kıyaslama yapılarak yorumlanmıştır. Elde edilen sonuçlar, bu bölgelerle sınırlı olmakla beraber genel olarak zayıf zemin grupları için TBDY 2018’in TDY 2007’ye göre daha güvenli tarafta kaldığını göstermektedir.Anahtar Kelimeler: Yönetmelik, Spektral İvme, Skeptrum Kavramı, TBDY 2018, TDY 2007COMPARISON OF TBSC 2018 AND TSC 2007 THROUGH THE VALUES OF SEISMIC LOAD RELATED SPECTRAL ACCELERATIONAbstractSeismic loads that can act on a structure are determined in two different ways, static and dynamic analysis. In order to make analysis easier, instead of dynamic analysis methods, spectral analysis method, which is a static method, is commonly used. Here, a static analysis method is preferred rather than a more accurate and complex method and the response spectra used are proposed as the design spectrum in today's seismic codes. In this study, the spectral acceleration values and the control periods were obtained as defined in Turkish Seismic Code 2007 (TSC 2007) and Turkish Building Seismic Code 2018 (TBSC 2018) for four different provinces according to risk situations and different soil classes. Kocaeli, Eskisehir, Kayseri, and Konya provinces were selected according to the seismic zones defined in TSC 2007 and the calculations according to this code were conducted through the use of the effective ground acceleration coefficients defined for these zones. On the other hand, in the case of TBSC 2018, considering the city-center coordinates of the regions, these values were obtained from the earthquake acceleration map included in the website of the Disaster and Emergency Management Presidency (AFAD). A comparison was made between spectral acceleration values obtained from design spectra according to TSC 2007 and TBSC 2018 for four different provinces and different soil classes and the results were interpreted. The results, although being limited to these regions, showed that TBSC 2018 is generally on a safer side compared to TSC 2007 for softer soil classes.Keywords: Code, Spectral Acceleration, Spectrum Concept, TBSC 2018, TSC 200