STUDY OF KCNJ11 GENE MUTATIONS IN ASSOCIATION WITH MONOGENIC DIABETES OF INFANCY AND RESPONSE TO SULFONYLUREA TREATMENT IN A COHORT STUDY IN EGYPT.

INTRODUCTION: KCNJ11 gene activating mutations play a major role in the development of neonatal diabetes mellitus (NDM). KCNJ 11 gene encodes the Kir 6.2 subunit of ATP- sensitive potassium channel which is a critical regulator of pancreatic beta-cell insulin secretion. AIM: To study KCNJ11 gene mutations in infants with NDM and the effect of sulfonylurea treatment on the glycemic control in patients with KCNJ11 gene mutation. SUBJECTS AND METHODS: Thirty infants with NDM were screened for KCNJ11 gene mutations by DNA sequencing, insulin therapy was replaced by sulfonylurea treatment in patients with mutations. RESULTS: R201C heterozygous mutation was found in one patient who was successfully shifted from insulin therapy to sulfonylurea treatment, while E23k, I337V, and S385C polymorphisms were detected in 14 patients. CONCLUSION: Screening for KCNJ 11 gene mutations could lead to identification of patients with mutations who can be successfully shifted from insulin therapy to sulfonylurea treatment improving their quality of life.

[Anaphylaxis to protamine during cardiovascular surgery]. / L'allergie à la protamine en chirurgie cardiovasculaire.

Protamine is a polypeptide with low molecular weights that is used widely to reverse heparin anticoagulation during cardiac surgery. Protamine, efficient and relatively sure, can produce multiple adverse reactions after intravenous administration, including pulmonary hypertension, or systemic hypotension leading at times to cardiovascular collapse and death. Physiopathologic mechanisms, underlying these reactions, are not clear. Immunologic and non-immunologic pathways are suggested. Some risk factors expose to protamine's adverse reactions. Preoperative identification of these factors should prompt specific preventive measures. The anesthesiologist and the cardiac surgeon must be vigilant when administrating protamine. Reheparinization and reinstitution of cardiopulmonary bypass should be considered in patients with refractory shock.

The Evolving Role of Artificial Intelligence in Radiotherapy Treatment Planning-A Literature Review.

This paper examines the integration of artificial intelligence (AI) in radiotherapy for cancer treatment. The importance of radiotherapy in cancer management and its time-intensive planning process make AI adoption appealing especially with the escalating demand for radiotherapy. This review highlights the efficacy of AI across medical domains, where it surpasses human capabilities in areas such as cardiology and dermatology. Focusing on radiotherapy, the paper details AI's applications in target segmentation, dose optimization, and outcome prediction. It discusses adaptive radiotherapy's benefits and AI's potential to enhance patient outcomes with much improved treatment accuracy. The paper explores ethical concerns, including data privacy and bias, stressing the need for robust guidelines. Educating healthcare professionals and patients about AI's role is crucial as it acknowledges potential job-role changes and concerns about patients' trust in the use of AI. Overall, the integration of AI in radiotherapy holds transformative potential in streamlining processes, improving outcomes, and reducing costs. AI's potential to reduce healthcare costs underscores its significance with impactful change globally. However, successful implementation hinges on addressing ethical and logistical challenges and fostering collaboration among healthcare professionals and patient population data sets for its optimal utilization. Rigorous education, collaborative efforts, and global data sharing will be the compass guiding its' success in radiotherapy and healthcare.

Characterization of the O/ME-SA/Ind-2001d foot-and-mouth disease virus epidemic recorded in the Maghreb during 2014-2015.

The O/ME-SA/Ind-2001d has been the main foot-and-mouth disease virus (FMDV) lineage responsible for FMD epidemics outside the Indian subcontinent from 2013 to 2017. In 2014, outbreaks caused by this FMDV lineage were reported in Maghreb, where it was initially detected in Algeria and Tunisia and later in Morocco. This was the first incursion of an FMDV type O of exotic origin in the Maghreb region after 14 years of absence. In this study, we report analyses of both VP1 and whole-genome sequences (WGSs) generated from 22 isolates collected in Algeria and Tunisia between 2014 and 2015. All the WGSs analysed showed a minimum pairwise identity of 98.9% at the nucleotide level and 99% at the amino acid level (FMDV coding region). All Tunisian sequences shared a single putative common ancestor closely related to FMDV strains circulating in Libya during 2013. Whereas sequences from Algeria suggest the country experienced two virus introductions. The first introduction is represented by strains circulating in 2014 which are closely related to those from Tunisia, the second one, of which the origin is more uncertain, includes strains collected in Algeria in 2015 that gave origin to the 2015 outbreak reported in Morocco. Overall, our results demonstrated that a unique introduction of O/Ind-2001d FMDV occurred in Maghreb through Tunisia presumably in 2014, and from then the virus spread into Algeria and later into Morocco.

Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in beta-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers (24.4%). The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls.

Hypocholesterolemic and antiatherosclerotic effect of artemisia aucheri in hypercholesterolemic rabbits.

Atherosclerosis which results from gradual deposition of lipids in arteries is a leading cause of mortality worldwide. Diet is one of the most important factors underlying atherosclerosis. High-cholesterol diets enhance atherosclerosis and vegetarian diets are known to slow down the process. Artemisia aucheri is an herb of the Composite family. Many species of Artemisia have proven hypolipidemic and antioxidant properties. This study determine the effects of Artemisia aucheri on lipoproteins and atherosclerosis in hypercholesterolemic rabbits. Fifteen male rabbits were randomly divided into three groups. Normal diet group, high-cholesterol diet group (1% cholesterol) and Artemisia aucheri group (1% cholesterol diet supplemented with 100 mg/kg body weight the Artemisi aucheri every other day). Biochemical factors were measured at the start, end of the first and second months of the study. At the end of the study, the aorta were removed for assessment of atherosclerotic plaques. The results indicate that Artemisia aucheri significantly reduced the level of total cholesterol, LDL cholesterol and triglycerids and increased HDL cholesterol. The degree of atherosclerotic thickness was significantly reduced in the treated group. Therefore, Artemisia aucheri is one of the useful herbal medicine for preventation of atherosclerosis and more studies in this regard is recommended.

Ethanolic extract of Artemisia aucheri induces regression of aorta wall fatty streaks in hypercholesterolemic rabbits.

Artemisia aucheri is a native-growing plant which is widely used in Iranian traditional medicine. This study was designed to evaluate the effects of A. aucheri on regression of atherosclerosis in hypercholesterolemic rabbits. Twenty five rabbits were randomly divided into five groups of five each and treated 3-months as follows: 1: normal diet, 2: hypercholesterolemic diet (HCD), 3 and 4: HCD for 60 days and then normal diet and normal diet + A. aucheri (100 mg x kg(-1) x day(-1)) respectively for an additional 30 days (regression period). In the regression period dietary use of A. aucheri in group 4 significantly decreased total cholesterol, triglyceride and LDL-cholesterol, while HDL-cholesterol was significantly increased. The atherosclerotic area was significantly decreased in this group. Animals, which received only normal diet in the regression period showed no regression but rather progression of atherosclerosis. These findings suggest that A. aucheri may cause regression of atherosclerotic lesions.

Paradoxical embolus illustrating speed of action of recombinant tissue plasminogen activator in massive pulmonary embolism.

A case of a patient who presented with massive pulmonary embolism (PE) requiring thrombolysis with alteplase is reported. The subsequent presence of a patent foramen ovale and paradoxical embolism clinically demonstrated the speed of action of the recombinant tissue plasminogen activator. The advantage of this class of medication when considering the treatment options for a PE in an acute setting is highlighted.

Lipid peroxides in the serum of asphyxiated neonates.

OBJECTIVE: Lipid peroxides (LPOs) are released when free radicals react with unsaturated fatty acids in cell membranes during hypoxic ischemic insult in neonates. We aimed to assess LPO concentrations in the serum of asphyxiated and non-asphyxiated neonates and examine their correlation with the severity of asphyxia. STUDY DESIGN: This prospective cross-sectional study was conducted on a group of asphyxiated neonates and controls. Serum LPO concentrations was measured by enzyme-linked immunosorbent assay at 4-6 h of life in all subjects. Encephalopathy was classified according to Sarnat's stages into mild, moderate and severe at 12-24 h of life. LPO was compared between groups and was correlated with severity of encephalopathy and mortality. RESULTS: A total of 90 infants were enrolled; of them 45 had asphyxia. Serum LPO (nmol ml(-1)) was significantly greater in the asphyxia group (6.9±3.01 vs 1.78±1.09, P<0.001). It correlated positively with severity of encephalopathy (P<0.001) and negatively with Apgar score at 5 min (r=-0.532, P<0.001) and with initial blood gases pH (r=-0.664, P<0.001). LPO measured greater concentrations in infants who died compared with asphyxiated survivors (11.64±1.31 vs 6.18±2.48, P=0.0004). CONCLUSION: LPO was increased and correlated with severity of asphyxia as well as with mortality. Further studies are warranted to examine whether it is only a marker for outcome or a contributor in the pathogenesis of hypoxic-ischemic brain injury.

Peripheral limb vascular malformations: an update of appropriate imaging and treatment options of a challenging condition.

Peripheral vascular malformations encompass a wide spectrum of lesions that can present as an incidental finding or produce potentially life- or limb-threatening complications. They can have intra-articular and intraosseous extensions that will result in more diverse symptomology and present greater therapeutic challenges. Developments in classification, imaging and interventional techniques have helped to improve outcome. The onus is now placed on appropriate detailed preliminary imaging, diagnosis and classification to direct management and exclude other more common mimics. Radiologists are thus playing an increasingly important role in the multidisciplinary teams charged with the care of these patients. By fully understanding the imaging characteristics and image-guided procedures available, radiologists will be armed with the tools to meet these responsibilities. This review highlights the recent advances made in imaging and the options available in interventional therapy.

[Chronic epicarditis, a soft pericardial constriction: about one case]. / L'épicardite chronique, une constriction à péricarde souple : à propos d'un cas.

Chronic constrictive epicarditis is a special form of chronic pericarditis. It is characterized by a thickening of the visceral pericardium that becomes adherent to cardiovascular structures, thus impeding the diastolic filling of the ventricles. The parietal pericardium remains soft, without symphysis with the visceral pericardium. We illustrate the diagnostic and therapeutic approaches to this pathology by a clinical case.

Influence of drivers' comprehension of posted signs on their safety related characteristics.

The paper studies the relationship between drivers' understanding of posted signs in three of the Gulf Cooperation Council (GCC) states, Bahrain, Qatar and the United Arab Emirates (UAE), and some of their safety related characteristics. These characteristics are driving experience, accident involvement, experience per accident, citations received in the last 3 years on speed limit violations, and seat belt usage. A total of 28 posted signs were investigated. These were categorized as warning and regulatory. To achieve the above goals a questionnaire, specially prepared to collect the necessary data, was distributed to over 6000 drivers in the three states. Over 2820 (47%) responded back. Comprehension of posted signs for drivers with high years of driving experience proved to be significantly better than those with lesser experience. However, the results revealed no significant influence on their accident involvements, even when the effect of age is incorporated; experience per accident ratios, or speed citations. Further, the seat belt usage is also found to increase with understanding of posted signs.

Audit of Pseudomonas aeruginosa in a general hospital in Saudi Arabia.

All isolates of Pseudomonas aeruginosa in our laboratory from hospitalised patients were collected over a 4-month period in 1993/94. Details of the patients including length of stay, transfer from another hospital, nationality, diagnosis and antibacterial treatment were noted. Each patient was assessed as to whether the first isolate during the study period was of clinical significance and whether the infection or colonization was nosocomially acquired. The isolates of P. aeruginosa were identified and sensitivity was determined by recognized methods. Isolates were serotyped. 108 different patients were included in the study (median age 50 years, 58% males). 57/77 (74%) isolates where information was noted were nosocomial acquired. Length of patient stay for the nosocomial acquired isolates ranged from less than 1 day to more than 1 year. 19% of patients were transfers from other hospitals. Clinical significance was graded 31% isolates were judged to be highly significant and 44% to have little or no clinical significance. 41% isolates were from superficial sites including wounds, 27% from respiratory sites, 23% from urine and 6% were from blood cultures. Heavy growth of P. aeruginosa was correlated with clinical significance. Coliforms were the other organisms most frequently isolated with the P. aeruginosa but highly significant isolates were usually in pure culture. Serotypes 11, 2 and 4 were the dominant isolates. Serotype 11 was also the most common environmental isolate from the hospital. 60% patients were receiving antibacterial agents when the sample was taken but only 12% patients were receiving potentially anti-pseudomonal agents.

Prediction of drivers' recognition of posted signs in five Arab countries.

The effects of six predictor variables, drivers' age, monthly income, years of education, sex, marital status, and nationality on perception of traffic signs were modeled through regression techniques. The populations sampled here were from Kuwait, United Arab Emirates, Bahrain, Qatar, and Oman. A total of 28 posted regulatory and warning signs were investigated. A questionnaire especially prepared for this study was distributed to 9,000 drivers in the five states, out of which 4,774 responded (53%). The drivers were selected according to stratified choice-based random sampling technique. Two prediction models were developed for assessment of drivers' recognition of regulatory and warning signs.

[Endocarditis complicated by an aneurysm of the superior mesenteric artery]. / Endocardite infectieuse compliquée d'un anévrysme de l'artère mésentérique supérieure.

Infective endocarditis (IE) is a rare, polymorphic disease in children. Mycotic aneurysm is a rare condition that complicates about 2.5 to 10% of cases of endocarditis. It is responsible for significant morbidity and mortality [1,2]. Mycotic aneurysms are often asymptomatic, physical examination is poor, but the diagnosis should be considered with the triad including fever, abdominal pain, and abdominal mass beating. Abdominal ultrasound and computed tomography are the most useful for the identification of the aneurysmal mass. However, angiography is an interesting addition to confirm the diagnosis and implement a treatment procedure [3]. The treatment of SMA aneurysms is largely surgical. IE treatment is based on antibiotic therapy combined with surgical repair. We report the case of a 15-year-old patient, first operated for an SMA aneurysm complicating the course of IE, who secondarily underwent mitral valve repair. We review the epidemiology, diagnosis, and care principles of mycotic aneurysms of the SMA.

Molecular epidemiology of bluetongue virus serotype 1 isolated in 2006 from Algeria.

This study reports on an outbreak of disease that occurred in central Algeria during July 2006. Sheep in the affected area presented clinical signs typical of bluetongue (BT) disease. A total of 5245 sheep in the affected region were considered to be susceptible, with 263 cases and thirty-six deaths. Bluetongue virus (BTV) serotype 1 was isolated and identified as the causative agent. Segments 2, 7 and 10 of this virus were sequenced and compared with other isolates from Morocco, Italy, Portugal and France showing that they all belong to a 'western' BTV group/topotype and collectively represent a western Mediterranean lineage of BTV-1.

[Vidéo-assisted mitral valve surgery: state of the art]. / La chirurgie mitrale vidéo-assistée : état de l'art.

Video-assisted mitral valve surgery by right mini-thoracotomy is adopted systematically in many centers in the world. It is a safe procedure that offers good results with low morbidity. His major interest can be appreciated in surgical management of mitral valve regurgitation after coronary artery bypass.

Immunosuppression in an emerging field of plastic reconstructive surgery: composite tissue allotransplantation.

Composite tissue transplantation (CTA) refers to the transplantation of an allograft consisting of heterogeneous cadaveric tissues. It provides a means of restoring structural, functional and aesthetic form in severely injured patients. Recent progress in facial transplantation has highlighted the immense strides made in this field of reconstructive surgery. However the potential for improvements in quality of life must be offset by the need for life-long immunosuppression in adults with non life-threatening injuries. The benefits and difficulties of immunosuppressive drugs have been established in solid organ transplantation. Regimens derived from renal transplantation have been successfully applied to CTA. However the published incidence of complications seen in organ transplant recipients may not be easily extrapolated to potential CTA candidates and may be overstated. Accepted views that high dose immunosuppression would be needed to overcome highly antigenic tissues such as skin have not been borne out by clinical experience. It is therefore important to assess the current state of affairs, attempt to quantify the perceived risks and explore novel research methods being investigated. In doing so one can make a well-informed judgment of the potential benefit of this surgical modality as an integral part of the reconstructive ladder.