Τετάρτη 13 Μαρτίου 2019

Anaesthesiology

Improvement in postoperative pain control by combined use of intravenous dexamethasone with intravenous dexmedetomidine after interscalene brachial plexus block for arthroscopic shoulder surgery: A randomised controlled trial
BACKGROUND Intravenous dexamethasone or dexmedetomidine is reported to prolong the duration of analgesia after single-shot interscalene brachial plexus block (ISBPB). However, the effect of co-administration of these agents on the duration of analgesia has not been evaluated. OBJECTIVES We evaluated the difference in time to first rescue analgesic request between patients receiving co-administered intravenous dexamethasone and dexmedetomidine and patients receiving intravenous dexamethasone alone after single-shot ISBPB for arthroscopic shoulder surgery. DESIGN A prospective, randomised controlled study. SETTING A single tertiary care centre, study period from August 2017 to January 2018. PATIENTS Sixty-six patients undergoing arthroscopic shoulder surgery with ISBPB with 15 ml of 0.5% ropivacaine with 1 : 200 000 epinephrine. INTERVENTIONS We randomly assigned the patients to one of three groups: intravenous 0.9% saline (control), intravenous dexamethasone 0.11 mg kg−1 (D1 group), or co-administered intravenous dexamethasone 0.11 mg kg−1 and intravenous dexmedetomidine 1.0 μg kg−1 (D2 group). MAIN OUTCOME MEASURES The primary outcome was the time to first rescue analgesic request. RESULTS The median [interquartile range] time to first rescue analgesic request was significantly longer for the D2 group (66.3 h [23.3 to 72]) than the D1 (17.4 h [14.9 to 36], P = 0.002) and control (10.9 h [10.1 to 12.2], P < 0.001) groups. The D1 and D2 groups both had reduced pain scores, reduced postoperative opioid consumption, less sleep disruption and improved patient satisfaction compared with the control group. There were no significant elevations in blood glucose concentrations in patients receiving dexamethasone (D1 and D2 groups) compared with the control group at postoperative day 1. CONCLUSION Co-administration of intravenous dexamethasone (0.11 mg kg−1) with dexmedetomidine (1.0 μg kg−1) significantly prolonged the time to first rescue analgesic request after single-shot ISBPB in patients undergoing arthroscopic shoulder surgery. TRIAL REGISTRATION Clinical Trial Registry of Korea; https://cris.nih.go.kr/cris/index.jsp and identifier: KCT0002569. Correspondence to Justin S. Ko, Department of Anaesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon ro, Gangnam gu, Seoul 06351, South Korea Tel: +82 2 3410 2454; fax: +82 2 3410 0361; e-mail: jsko@skku.edu © 2019 European Society of Anaesthesiology

Is 'anxiety sensitivity' predictive of postoperative nausea and vomiting?: A prospective observational study
BACKGROUND Postoperative nausea and vomiting (PONV) is an extremely distressing side effect for patients. Despite PONV prophylaxis guided by well established scoring systems, the incidence of PONV is still high. OBJECTIVE The aim of the current study was to investigate the predictive value of anxiety sensitivity as an additional independent risk factor for PONV in patients with an increased risk of PONV. DESIGN A noninterventional, observational study. SETTING A tertiary care university hospital. PATIENTS Patients with an increased risk of PONV (i.e. female, nonsmoking) undergoing elective surgery (general, gynaecological, urological, musculoskeletal or neurosurgical) under general anaesthesia. MAIN OUTCOME MEASURES The number of patients with anxiety sensitivity assessed pre-operatively with the Anxiety Sensitivity Index-3 questionnaire, the number of patients experiencing PONV, predictive value of anxiety sensitivity compared with other established risk factors for PONV. RESULTS Some 41.5% of the patients experienced PONV within the first 24 h after surgery. In these patients increased anxiety sensitivity (Anxiety Sensitivity Index-3 score higher than seven points) was associated with a five-fold increase in the odds ratio (OR) for PONV. From the regression model, the risk of PONV was increased by lack of PONV prophylaxis (OR, 3.68), the postoperative administration of opioids (OR, 3.60) and patient age (OR, 1.03), but laparoscopic surgery did not increase the risk. CONCLUSION In addition to the well established risk factors, anxiety sensitivity can help to predict the risk of PONV. It seems justifiable to add psychological factors such as anxiety sensitivity to PONV risk-scores. PONV prophylaxis should be considered when anxiety sensitivity is high. TRIAL REGISTRATION ClinicalTrials.gov identifier: NCT01875120. Correspondence to Rita Laufenberg-Feldmann, MD, Department of Anaesthesiology, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, D-55131 Mainz, Germany Tel: +49 6131 177248/+49 6131 176751; fax: +49 06131 176209; e-mail: rita.laufenberg@unimedizin-mainz.de Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.ejanaesthesiology.com). © 2019 European Society of Anaesthesiology

Intra-operative high inspired oxygen fraction does not increase the risk of postoperative respiratory complications: Alternating intervention clinical trial
BACKGROUND The WHO recommends routine intra-operative and early postoperative use of high inspired oxygen concentrations (hyperoxia). However, a high intra-operative inspired oxygen fraction (FiO2) might result in an increased risk of postoperative respiratory complications. AIM To test the hypothesis that intra-operative FiO2 of 80% compared with 30% inspired oxygen decreases the postoperative ratio of arterial saturation to fraction of inspired oxygen (SpO2/FiO2). Secondarily, to evaluate whether an intra-operative inspired FiO2 of 80% increases the incidence of pulmonary complications. DESIGN Posthoc subanalysis of a large alternating cohort trial. SETTING Cleveland Clinic, Cleveland, United States, from 2013 to 2016. PATIENTS Adults having colorectal surgery. Cases lasting less than 2 h, re-operations on the same hospitalisation, and cases with missing intra-operative or postoperative data were excluded. INTERVENTION Maintaining intra-operative FiO2 at 30 or 80% and alternating this management every 2 weeks for a study period of 39 months. MAIN OUTCOME Minimal SpO2/FiO2 ratio value in the postanaesthesia care unit. Secondary outcome was a composite of postoperative pulmonary complications throughout hospitalisation. RESULTS A total of 5056 patients were included. Groups were well balanced on all demographic, baseline and procedural variables. Median time-weighted averages of intra-operative FiO2 in the 30 and 80% groups were 43% (IQR 38 to 54%, N=2486) and 81% (IQR 78 to 82%, N=2570), respectively. No difference was found in the lowest SpO2/FiO2 ratio (estimated median difference 0 [95% confidence interval: 0, 0], P = 0.91). The incidence of postoperative pulmonary complications was 16.3 and 17.6% in the 30 and 80% FiO2 groups, respectively (relative risk 1.07 [95% confidence interval: 0.95, 1.21], P = 0.25). CONCLUSION Intra-operative hyperoxia did not change the postoperative SpO2/FiO2 ratio or the risk for pulmonary complications. Clinicians should not refrain from using hyperoxia for fear of provoking respiratory complications. TRIAL REGISTRATION ClinicalTrials.gov identifier: NCT01777568. Correspondence to Alparslan Turan, MD, Department of Outcomes Research, Anesthesiology Institute, Cleveland Clinic, 9500 Euclid Ave P77, Cleveland, OH 44195, USA Tel: +1 216 445 9857; fax: +1 216 444 6135; e-mail: Turana@ccf.org Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.ejanaesthesiology.com). © 2019 European Society of Anaesthesiology

Metamizole vs. ibuprofen at home after day case surgery: A double-blind randomised controlled noninferiority trial
BACKGROUND NSAIDs and paracetamol are the cornerstones of pain treatment after day case surgery. However, NSAIDs have numerous contraindications and consequently are not suitable in up to 25% of patients. Metamizole is a non-opioid compound with a favourable gastro-intestinal and cardiovascular profile compared with NSAIDs. OBJECTIVES The study aimed to assess if a combination of metamizole and paracetamol is noninferior to a combination of ibuprofen and paracetamol in treating pain at home after painful day case surgery. METHODS Two hundred patients undergoing elective ambulatory haemorrhoid surgery, arthroscopic shoulder or knee surgery, or inguinal hernia repair were randomly allocated to receive either metamizole and paracetamol (n=100) or ibuprofen and paracetamol (n=100) orally for 4 days between January 2016 and March 2017 in this double-blind, randomised, controlled, single-centre, noninferiority trial. Average postoperative pain intensity using a numerical rating scale and use of rescue medication were measured in the postanaesthesia care unit (PACU) and on postoperative days (POD) 1 to 3. A difference in mean numerical rating scale score of 1 point or less was considered noninferior. Adverse effects of study medication and satisfaction with study medication were measured on PODs 1 to 3 by telephone follow-up. RESULTS In the PACU, the difference in mean ± SD pain score between metamizole and paracetamol and ibuprofen and paracetamol was 0.85 ± 0.78. From POD 1 to 3, this difference was lower than 1, resulting in noninferiority. Rescue opioid consumption in the PACU and on PODs 1 and 3 was not significantly different between treatment groups. Rescue opioid consumption on POD2 was significantly higher in the ibuprofen and paracetamol group (P = 0.042). Adverse effects of study medication and overall patient satisfaction were similar in both groups. CONCLUSION Paracetamol/metamizole and paracetamol/ibuprofen are equally effective in treatment of acute postoperative pain at home after ambulatory surgery with comparable patient satisfaction levels. TRIAL REGISTRATION European Union Clinical Trials Register 2015-003987-35. Correspondence to Björn Stessel, MD, PhD, Department of Anesthesiology and Pain Medicine, Jessa Hospital, Hasselt, Belgium E-mail: bjornstessel@hotmail.com © 2019 European Society of Anaesthesiology

Recent Advances in Anesthesiology
No abstract available

Flow-controlled ventilation during ear, nose and throat surgery: A prospective observational study
BACKGROUND Flow-controlled ventilation (FCV) is a new mechanical ventilation mode that maintains constant flow during inspiration and expiration with standard tidal volumes via cuffed narrow-bore endotracheal tubes. Originating in manually operated 'expiratory ventilation assistance', FCV extends this technique by automatic control of airway flow, monitoring of intratracheal pressure and control of peak inspiratory pressure and end-expiratory pressure. FCV has not yet been described in a clinical study. OBJECTIVE The aim of this study was to provide an initial assessment of FCV in mechanically ventilated patients undergoing ear, nose and throat surgery and evaluate its potential for future use. DESIGN An observational study. SETTING Two German academic medical centres from 24 November 2017 to 09 January 2018. PATIENTS Consecutive patients (≥ 18 years) scheduled for elective ear, nose and throat surgery. Exclusion criteria were planned laser surgery, intended fibreoptic awake intubation, emergency procedures, increased risk of aspiration, American Society of Anesthesiologists (ASA) physical status more than III and chronic obstructive pulmonary disease classified as GOLD stage more than II. INTERVENTION Peri-operative use of FCV provided by a new type of ventilator (Evone) via a narrow-bore endotracheal tube (Tritube). MAIN OUTCOME MEASURES Minute volume, respiratory rate, intratidal tracheal pressure amplitude (Δp) and end-tidal CO2 (PetCO2) were recorded every 5 min. All adverse events were noted. Data are presented as median [IQR]. RESULTS Sixteen patients provided 15 evaluable data sets. A minute volume of 5.0 [4.4 to 6.4] l min−1 and a respiratory rate of 9 [8 to 11] min−1 generated a PetCO2 of 4.9 [4.8 to 5.0] kPa. Δp was 10 [9 to 12] cmH2O. Five adverse events were recorded: a tube obstruction due to airway secretions and four tube dislocations (two attributed to coughing, two not study-related). CONCLUSION FCV achieves adequate PetCO2 levels with minute volume and Δp in the normal range. Tritube's high flow resistance may increase the likelihood of tube dislocations if the patient coughs. Although further evaluation is necessary, FCV provides a new option for short-term mechanical ventilation. The successful operation of FCV with narrow-bore tubes contributes to the armamentarium for airway management. TRIAL REGISTRATION DRKS00013312 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 Correspondence to Dr. Johannes Schmidt, Department of Anaesthesiology and Critical Care, Medical Centre – University of Freiburg, Hugstetter Str. 55, 79106 Freiburg, Germany Tel: +49 761 270 26390; e-mail: johannes.schmidt@uniklinik-freiburg.de Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.ejanaesthesiology.com). © 2019 European Society of Anaesthesiology

Pre-operative assessment of 30-day mortality risk after major surgery: the role of the quick sequential organ failure assessment: A retrospective observational study
BACKGROUND The quick Sequential Organ Failure Assessment (qSOFA) is intended for the assessment of the prognosis and risk of sepsis. It may also help predict the mortality risk of nonseptic patients. OBJECTIVE This study investigated the relationship between pre-operative qSOFA scores and 30-day mortality after major surgery. It also evaluated the predictive value of qSOFA scores combined with the American Society of Anesthesiologists (ASA) physical status and Charlson comorbidity index (CCI). DESIGN A retrospective observational study. SETTING Single tertiary academic hospital. PATIENTS Medical records of patients who underwent major surgery (estimated blood loss >500 ml; surgery time >2 h) between January 2010 and December 2017 were examined. MAIN OUTCOME MEASURES The qSOFA score was measured within 24 h before surgery, and its association with 30-day mortality was analysed using multivariable logistic regression. A receiver-operating characteristic curve analysis was used to investigate the predictive power of the pre-operative qSOFA scores combined with the ASA physical status and with CCI. RESULTS A total of 6336 patients were included in the final analysis, and 91 (1.4%) died within 30 days. The multivariable logistic regression analysis including all covariates indicated that 30-day mortality was 2.43-times higher for the score 1 group than for the score 0 group (P = 0.002), and it was 3.54-times higher for the score at least 2 group than for the score 0 group (P < 0.001). The area under the curve (AUC) of the pre-operative qSOFA, ASA physical status and CCI were 0.69, 0.55 and 0.57, respectively. When the pre-operative qSOFA score was combined with the ASA physical status or CCI, the AUCs were 0.73 and 0.72, respectively. CONCLUSION Higher pre-operative qSOFA scores within 24 h of surgery were associated with increased 30-day mortality. Pre-operative qSOFA scores have better predictive value for 30-day mortality when combined with the ASA physical status or CCI. Correspondence to Tak Kyu Oh, MD, Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam 13620, Korea Tel: +82 31 787 7499; fax: +82 31 787 4063; e-mail: airohtak@hotmail.com Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.ejanaesthesiology.com). © 2019 European Society of Anaesthesiology

Pediatric Anesthesia: A Problem-Based Learning Approach
No abstract available

Comparison of pre-oxygenation using spontaneous breathing through face mask and high-flow nasal oxygen: A prospective randomised crossover controlled study in healthy volunteers
BACKGROUND High-flow nasal oxygen (HFNO) therapy has been proposed for pre-oxygenation before intubation, but the end-tidal fraction of oxygen (ETO2) obtained remains unknown. OBJECTIVE(S) To compare the ETO2 following a 3 min pre-oxygenation with HFNO and face mask. SETTING Operating room in a primary university hospital. DESIGN A prospective, randomised crossover study. PARTICIPANTS Fifty healthy volunteers. INTERVENTIONS Participants were randomly pre-oxygenated through spontaneous breathing 100% oxygen in a face mask and with HFNO (mouth closed, heated and humidified gas flow at 60 l min–1). In the face mask group, the ETO2 was measured continuously. In the HFNO group, the nasal cannula was quickly exchanged with a face mask while the subject held their breath at end inspiration and the ETO2 was measured after a deep expiration. The protocol ended when ETO2 reached 90% or otherwise at 6 min. MAIN OUTCOME MEASURES The primary endpoint was the ETO2 after 3 min of pre-oxygenation. Secondary endpoints were the proportion of participants with an ETO2 at least 90% and the time until the ETO2 at least 90%. RESULTS The ETO2 after 3 min of pre-oxygenation was 89 (2) % and 77 (12) % in the face mask and HFNO groups [difference 12% (95% confidence interval, 95% CI: 8 to 15]; P < 0.001), respectively. After 3 min of pre-oxygenation, 54 and 4% (P < 0.001) of volunteers had an ETO2 at least 90% in the face-mask and HFNO groups, respectively. After 6 min of pre-oxygenation, 96 and 46% (P < 0.001) of volunteers had an ETO2 at least 90% in the face-mask and HFNO groups, respectively. In the face mask group, the hazard ratio to achieve an ETO2 of 90% was 5.3 (95% CI: 3.2 to 8.9; P < 0.001). CONCLUSION Our study demonstrates that pre-oxygenation with HFNO is not a reliable method of pre-oxygenation before the induction of anaesthesia. TRIAL REGISTRATION clinical trial NCT03399695. Correspondence to Jean-Luc Hanouz, Service d'Anesthésie Réanimation (niveau 6), CHU de Caen, Av Côte de Nacre, 14033 CAEN Cedex, France E-mail: hanouz-jl@chu-caen.fr © 2019 European Society of Anaesthesiology

Modified ROTEM for the detection of rivaroxaban and apixaban anticoagulant activity in whole blood
BACKGROUND Rapid detection of the anticoagulant effect of oral factor Xa (FXa) inhibitors may be essential in several emergency clinical situations. Specific assays quantifying the drugs are performed in plasma and require a turnaround time that is too long to be useful in emergency situations. Rotational thromboelastometry (ROTEM) is a whole blood coagulation assay of blood viscoelasticity and could be of interest for FXa inhibitor detection in emergency. However, conventional ROTEM reagents only detect high amounts of inhibitors. OBJECTIVE The aim of this study was first to assess the effect of whole blood components on the viscoelastic measurement of the effects of FXa inhibitors, an second to evaluate whether a modified ROTEM, triggered with a low amount of tissue factor and a saturating amount of phospholipid vesicles, can reliably detect low levels of FXa inhibitor activity in whole blood. DESIGN Diagnostic test study. SETTINGS A university research laboratory. From November 2014 to April 2016. PATIENTS Sixty-six patients: 30 treated with rivaroxaban, 17 with apixaban and 19 without treatment. INTERVENTION ROTEM was triggered with 2.5 pmol l−1 of tissue factor and 10 μmol l−1 of phospholipid vesicles. MAIN OUTCOME MEASURES Modified ROTEM parameters were measured in different experimental conditions: platelet-poor plasma (PPP), platelet-rich plasma, PPP supplemented with fibrinogen and reconstituted whole blood with various haematocrit levels adjusted between 30 and 60%. Modified ROTEM was further validated using whole blood from patients who were either treated or not treated with FXa inhibitors. RESULTS Modified ROTEM allowed detection of as little as 25 ng ml−1 FXa inhibitors in PPP, with at least a 1.4-fold increase of the clotting time (P ≤ 0.02). Neither changes of fibrinogen concentration nor variations of platelet count or haematocrit precluded FXa inhibitor detection. A lengthened modified ROTEM clotting time of more than 197 s allowed detection of FXa inhibitor concentrations above 30 ng ml−1 in whole blood with 90% sensitivity and 85% specificity. CONCLUSION Modified ROTEM may be applicable in emergency situations for the detection of FXa inhibitors in whole blood. Correspondence to Charles M. Samama, MD, PhD, FCCP, Department of Anaesthesia and Intensive Care Medicine, Cochin University Hospital, 27 rue du Faubourg St Jacques, 75014 Paris, France Tel: +33 1 42 34 85 51/+33 6 62 14 86 64; fax: +33 1 58 41 14 15; e-mail: marc.samama@aphp.fr Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.ejanaesthesiology.com). © 2019 European Society of Anaesthesiology

Medicine

Cardiac outcomes after successful kidney transplantation
Ahmed Hassan, Hala I Mohamed, Yasser A Hendy, Hala M Allam, Mohamed K Mohamed

Journal of Medicine in Scientific Research 2018 1(4):219-226

Aim The aim of this study was to investigate the effects of renal transplantation on cardiac function and morphology in patients with ESRD on regular hemodialysis at the post-transplant period. Background End stage renal disease (ESRD) is considered an overall general health issue related to increased morbidity &#38; mortality. The mortality rate among cases with ESRD who have been experiencing dialysis has been approximately seven times higher than for comparable cases in the general population and has been to a great extent related to cardiovascular causes. Cardiac diseases have been common in cases with chronic kidney disease (CKD). About 75&#37; of cases with CKD who begin dialysis have left ventricular hypertrophy, left ventricle dilatation or diminished left ventricle functional shortening; these cardiac anomalies keep on progressing during the first year of hemodialysis. Besides these changes, impairment of diastolic function has been also expected in these cases. For example, Left ventricular hypertrophy has been a very common pathological condition in cases with ESRD and considered as an independent risk variable for death and cardiac disease. Generally, many risk variables including uremic toxins, fluid retention &#38; chronic volume over-load, anemia, hypoalbuminemia, hyperparathyroidism, arterio-venous fistula and pressure over-load were involved in the pathogenesis for Left Ventricular Hypertrophy in cases with ESRD. Renal transplantation is a well-established treatment for ESRD, allowing most patients to return to a satisfactory quality of life. It is the most acceptable treatment modality for the patients with ESRD, which improves some complications of renal failure such as chronic uremia and volume overload. Methods This cross sectional study was done on 40 kidney transplant recipients enrolled from the patients in the NIUN according to the inclusion and exclusion criteria. We compared echocardiographic findings and some cardiac risk factors after transplantation with those done before transplantation. Results There was highly significant reduction with respect to serum creatinine, blood urea, phosphorus. Comparison of echocardiographic findings between the pre-transplant period and post-transplant period. Ejection fraction (EF) was significantly increased at the post-transplant period while left ventricular systolic dimension (LVSD), left ventricular diastolic dimension (LVDD), and LVH showed a significant decrease after transplantation. Conclusions We have found that cardiac parameters showed significant improvement after transplantation as well as cardiac risk factors including anemia, hyperparathyroidism and volume &#38; pressure overload. 


Hepatic encephalopathy in patients with diabetes mellitus
El-Saied Shaheen, Helmy M Elshazly, Noha Abd Allah

Journal of Medicine in Scientific Research 2018 1(4):227-230

Background and aim of the work Hepatic encephalopathy (HE) is a complex frequent neuropsychiatric manifestation of chronic and acute liver disease with disturbance of psychomotor, intellectual, cognitive, behavioral, and fine motor function of varying severity. Diabetes mellitus (DM) exacerbates progression of hepatic fibrosis. Recently, a meta-analysis study concluded that type 2 DM was associated with relative 1.5-fold increased risk for clinically defined Alzheimer disease and 2.5 for vascular dementia compared with nondiabetic individuals; furthermore, one recent prospective study showed that elevated blood glucose in the absence of DM increased the risk of dementia. Given the high prevalence of DM in the liver cirrhosis population, a better understanding of the effect of DM offers significant opportunities to improve patient outcome. Aim of the work To determine the relationship between duration of DM and blood sugar level and increase risk of the occurrence of HE in patients with liver cirrhosis. Patients and methods This study was carried out on 100 patients with cirrhosis with DM admitted between July 2017 and July 2018 in Internal Medicine Department, Shebin Elkom Teaching Hospital, Menoufia, Egypt. They were categorized into two groups according to the presence or absence of HE. Group 1 included 50 cirrhotic diabetic patients with HE and group 2 included 50 cirrhotic diabetic patients without HE. All patients in the study were subjected to a thorough physical examination; laboratory investigations, including complete blood picture, liver function tests, hepatitis B virus surface antigen, hepatitis C virus antibody, renal function tests, serum ammonia level, fasting and postprandial blood sugar, and glycated hemoglobin; tests to detect the presence of autonomic neuropathy (tilt-table test and diurnal variation of blood pressure measurement); and abdominal ultrasonography. Results The present study found a significant increase in fasting and postprandial blood glucose, glycated hemoglobin, and duration of DM in group 1 versus group 2. Positive tilt-table test and positive posture hypotension were highly significant in group 1 versus group 2. Conclusion Patients with cirrhosis with long-standing and uncontrolled DM are more likely to developed HE. Autonomic neuropathy, which may complicate patients with cirrhosis with long-standing uncontrolled diabetes, may play a role in the pathogenesis of HE in these patients. 


Nonalcoholic fatty liver disease and outcomes in patients with acute coronary syndrome
El-Saied Shaheen

Journal of Medicine in Scientific Research 2018 1(4):231-233

Background According to the results of longitudinal cohort study, patients with nonalcoholic fatty liver disease (NAFLD) were found to have a higher mortality owing to coronary heart disease than the liver cirrhosis. Patients with NAFLD may also have a higher prevalence of subclinical atherosclerosis independent of established cardiovascular risk factor. Patients and methods This study was performed at Shebin El-Kom Teaching Hospital from January 2018 to March 2018. All consecutive patients with nonfatal acute coronary syndrome (ACS) admitted were included in this study. Patients with excessive alcohol consumption, patients with established cirrhosis, and patients with identified risk factors for liver disease were excluded from study. All patients underwent ultrasound scan of liver. Results There were 118 participants with ACS. The number of patients with NAFLD was 55 (46.6&#37;) and patients without NAFLD was 63 (53.4&#37;). The number of male patients with NAFLD was 31 (56.4&#37;) versus 40 (63.5&#37;) in patients without NAFLD. There was a significant increase in total Global Registry of Acute Coronary Events score in patients with NAFLD versus patients without NAFLD and also patients with NAFLD showed significant increased high and intermediate risk of death during the hospital stay versus patients without NAFLD. Conclusion Patients with NAFLD and ACS require aggressive treatment of CAD and higher predicted mortality. 


Anti-cyclic citrullinated peptide antibodies in ulcerative colitis with and without joint involvement
Tarek A Fouad, El Saied E Shabaan, Mohamed A Safy, Aisha El-Shimy, Hala I Mohamed, Wael Gomah

Journal of Medicine in Scientific Research 2018 1(4):234-238

Background Joint affection is the most common extraintestinal manifestation of ulcerative colitis (UC). Despite the high specificity of anti-cyclic citrullinated peptide (CCP) antibodies for rheumatoid arthritis, their role in UC remains unclear. Aim The aims of this study were to assess the prevalence of anti-CCP antibodies in patients with UC and to investigate any association with joint affection. Patients and methods A total of 60 patients with UC were studied. Demographic data were collected, careful history was taken, and clinical examination including rheumatologic examination was done. A blood sample was collected for assessment of anti-CCP and other laboratory tests. Colonoscopy was done for assessment of severity and extension of UC. Results Joint affection was found in 28.33&#37; of patients. Anti-CCP antibody was positive in 8.33&#37; of patients. There were no statistically significant differences between patients with positive and negative anti-CCP antibody regarding joint affection or UC activity or extension. Conclusion The prevalence of anti-CCP antibodies in patients with UC was 8.33&#37;, but there was no association between the presence of these antibodies and the joint affection or disease activity or extension. 


Effects of iron-deficiency anemia on auditory function in school-aged children
Gehan M S. Abd El-Salam, Eman Soliman Abd El-Gaffar, Hala M Abd El-Samad

Journal of Medicine in Scientific Research 2018 1(4):239-244

Introduction Iron is important for proper myelination of spinal cord and white matter of cerebellar folds in brain and is a cofactor for a number of enzymes involved in neurotransmitter synthesis. Auditory brainstem evoked response (ABR) represents the progressive activation of different levels of the auditory pathway from the acoustic nerve (wave I) to the lateral lemniscuses (wave V). Otoacoustic emissions (OAEs) are sounds measured in the external ear canal that reflect movement of the outer hair cells in the cochlea. Patients and methods A total of 40 children, of both sexes, with age ranging from 6&#8211;12 years old, were selected for this study after a thorough clinical assessment to exclude any other pathological disorder other than anemia. They are compared with a control group that consisted of 20 normal children of the same age. After laboratory investigations, all children were examined by ABR and transient-evoked OAEs. The study group children were classified according to ABR results into study group 1, comprising anemic children with abnormal ABR results and study group 2, comprising anemic children with normal ABR results. Results ABR showed that absolute peak latencies of waves I, III, and V and interpeak latencies were prolonged; moreover, ABR waves I and V showed reduced amplitude in study group 1 than control group, and the difference is statistically significant. In contrast, there was no statistically significant difference between study group 2 and control group regarding ABR results. Transient-evoked OAEs results showed no statistically significant difference between anemic children and control group. Conclusion This study added to the evidences that iron-deficiency anemia is a risk factor for auditory function impairment. Further studies for the effect of timing, duration, and severity of iron deficiency on auditory functions are needed. Well-designed large-scale studies are needed to address the iron-deficiency anemia in health planning programs to put plans for control and prevention especially in developing countries. 


The relationship between presbycusis and vestibular activity
Gehan M S. Abd El-Salam

Journal of Medicine in Scientific Research 2018 1(4):245-249

Introduction Presbycusis or age-related sensorineural hearing loss (SNHL) is a complex disorder that results in a slow deterioration in auditory function. A considerably high number of these patients with presbycusis or age-related SNHL also experience dizziness and related vestibular symptoms. Although auditory and vestibular systems are distinct, they work just alike. So, there is a great relation among their functions. Once one is stimulated, the other experiences changes as well. Participants and methods This study comprised 40 adult patients (50&#8211;75 years) without any vestibular symptoms or diagnosed vestibular diseases. Audiological status was measured with auditory brainstem response (ABR). The vestibular system was assessed using videonystagmography test battery, sensory organization test, and vestibular evoked myogenic potential (VEMP). &#8216;Get up and go&#8217; test was used as a quick screening tool for detecting balance problems. Patients were divided into two groups: a study group (patients with SNHL) and a control group (patients without SNHL). ABR and VEMP results of the groups were calculated and compared. Results Absolute peak latencies of ABR waves I, III, and V were prolonged in the study group than the control group (P &#60; 0.0001). VEMP results showed that P13 and N23 latencies were prolonged in the study group when compared with the control group (P &#60; 0.0001). Conclusion Thorough full examination of the vestibular system, in conjunction with auditory functions in elderly persons, is recommended. This may help to discover their subclinical vestibular problem and guide physicians to design a suitable treatment plan that helps in decreasing risk of falls for aged persons. 


Effect of pulsed electromagnetic field on menstrual distress in primary dysmenorrhic women
Ahmed H Abd El Aziz, Engy M El Nahas, Hesham M Kamal

Journal of Medicine in Scientific Research 2018 1(4):250-254

Background Primary dysmenorrhea is a common menstrual cramp that is recurrent and is not owing to other diseases and is a common cause of stay at home and school or work. Purpose The purpose of this study was to investigate the effect of pulsed electromagnetic field (PEMF) on menstrual distress in primary dysmenorrheic women. Patients and methods A total of 40 women having primary dysmenorrhea were selected from Physical Therapy Department in Al Mataria Teaching Hospital in Cairo. Their ages ranged from 20 to 30 years. They were divided randomly into two groups equal in number: group A (study group), treated with the PEMF, three times/week for 3 months, with each session lasted for 30 min, in addition to medical treatment, and group B (control group, which received medical treatment only (NSAIDs). Menstrual distress questionnaire and visual analog scale were used for assessment of menstrual distress and pain before treatment and after treatment for both groups A and B. Results The results showed that there is a significant improvement in menstrual distress and pain scores in both groups A and B after treatment, in favor of group A. Conclusion It was concluded that PEMF is effective in improving dysmenorrheic pain and menstrual distress score. 


Prevalence of allergic disorders of respiratory system in children in Shebin Elkom
Khaled ElKelany, Salama ElShenawy, Ezzat Rizk, Mohamed F Al Soda

Journal of Medicine in Scientific Research 2018 1(4):255-260

Introduction Allergic rhinitis is a global health problem that causes significant illness and disability worldwide. Interactions between the lower and the upper airways are well known and have been studied since 1990. More than 80&#37; of asthmatics have rhinitis, and 10&#8211;40&#37; of patients with rhinitis have asthma. Indoor and outdoor allergens, as well as occupational agents, cause rhinitis and other allergic diseases. Aim A trial was done to determine or distinguish the causative agents, either one or multiple agents, in allergic patients. We hope this will help us in the management of allergic patients by avoiding this causative agent(s) if possible. Patients and methods A total of 97 individuals were recruited from the outpatient clinics of Shebin Elkom teaching hospital. Results Pigeon and pollens showed the highest prevalence at 56.7&#37;, whereas wheat showed the least incidence at 5.15&#37;. As for ingestant, the cacao showed the highest incidence at 16.49&#37;, and the least one was strawberry at 5.15&#37;. Conclusion The importance of our research that If we recognize the causative allergen that triggers the allergic disorder, we can try to avoid it and protect the patient from the hazards of an allergic disorder. 


Screening and identification of red blood cell alloantibodies among hemodialysis patients in National Institute of Urology and Nephrology
Aisha M A. Elshimy, Tarek A Fouad, Ahmed Hasan

Journal of Medicine in Scientific Research 2018 1(4):261-265

Background It is well known that alloimmunization to red blood cell antigens resulting from the genetic disparities between the donor and the recipient is one of the risks of blood transfusion. Alloimmunization can result in clinical hemolysis and difficulty in cross-matching blood. The risk of alloimmunization is higher in patients who have received multiple blood transfusions such as renal failure patients on dialysis who receive blood transfusions. The antibody-screening test (2&#8211;3 cells panel) used to detect unexpected antibodies is not a mandatory pretransfusion testing in our blood bank of National Institute of Urology and Nephrology (NIUN), and is performed routinely in limited blood centers. Aim This study was conducted to screen and identify different types of red cell alloantibodies and the factors influencing the development of alloantibodies among patients on dialysis in NIUN. Patients and methods This study was conducted in the blood bank of NIUN, Egypt. A total of 192 patients (102 males and 90 women) who were diagnosed to have chronic renal failure, on regular hemodialysis for at least 1 year, their age more than 20 years, anemic (hemoglobin &#60;8 g/dl), and with a previous history of blood transfusion for at least once were selected for the study. All patients&#8217; sera were subjected to the following tests: antibody screening, patients&#8217; sera were tested against three panels of commercially prepared group O cells and antibody identification, positive patients&#8217; sera by a screening test, and retested against commercial panels of 11 cells. Results Red cell alloantibodies were detected in 10 (5.2&#37;) patients (two men and eight women). The prevalence of alloantibodies detected in patients with positive results were anti-E (2.1&#37;), anti-K (1.6&#37;), antibodies of unknown specificity (1.6&#37;), and antibody against high-incidence antigen (0.5&#37;). There was a significant difference between sex and the number of blood units transfused with alloimmunization (P &#61; 0.048 and 0.037, respectively). Conclusion The prevalence of alloimmunization among chronic renal failure patients on dialysis was 5.2&#37;. The most common alloantibodies were anti-E (the Rhesus system) (2.1&#37;) and anti-K (the Kell system) (1.6&#37;) and the risk of alloimmunization is known to be influenced by the recipient sex (more in females) as well as the number of blood units transfused. So, antibody screening and identification tests are recommended as a routine pretransfusion testing protocol at least for the patients who are at higher risk of alloimmunization and require long-term transfusion dependence, which will definitely add significant value in blood safety. 


Association of matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-1 levels with diabetic foot ulcer in Egyptians with type 2 diabetes mellitus
Ghada H Sayed, Ghada A Omar, Ayat I Ghanem, Naglaa F Mohamed, Mourad I El-Kholy

Journal of Medicine in Scientific Research 2018 1(4):266-270

Background The imbalance between matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) may play an important role in impaired healing of diabetic foot ulcer. Aim of the work This study was designed to investigate the association of MMP-9 and TIMP-1 levels in diabetic foot ulcer among Egyptian patients with type 2 diabetes mellitus attending the outpatient clinic of National institute of diabetes and endocrinology. Patients and methods This study was conducted on a total number of 90 participants comprising three groups: group I included 35 type 2 diabetic patients without foot ulcer. Group II included 35 type 2 diabetic patients having various degrees of foot ulcer complications. Group III included 20 apparently healthy participants (as controls). In addition to the routine clinical and laboratory investigations, MMP-9 and TIMP-1 were measured. All patients were randomly taken from the outpatient clinic of National institute of diabetes and endocrinology. Results The study results showed that the higher levels of plasma MMP-9 and the lower levels of TIMP-1 were associated with patients with diabetic foot ulcer. Conclusion The measurement of plasma MMP-9 and TIMP-1 in type 2 diabetic patients may help us to know the patients at most risk to develop diabetic foot ulcer. 


Surgery

A study of arterial pH, bicarbonate levels, and base deficit at presentation as markers of predicting morbidity and mortality in acute pancreatitis
Aditya Varshney, Mohammad Aslam, Junaid Alam

Archives of International Surgery 2018 8(1):1-9

Background: The development of metabolic acidosis can occur commonly during critical illness. It is a clinical disturbance characterized by a low arterial pH, a reduced plasma HCO3&#8722; concentration, and compensatory hyperventilation. An extensive search for objective tools that predict severity and outcome at the time of hospital admission remains a major challenge. Patients and Methods: Patients with acute pancreatitis presenting to our unit between January 2012 and November 2013 were prospectively studied. Arterial blood gas (ABG) analysis was done at admission, and development of organ failure, any need for intervention, and mortality were noted. The association between various parameters of ABG analysis and the development of organ failure or local complications, need for interventions (endoscopic/radiological/surgical), and mortality were analyzed. Results: In all, 100 patients (mean age: 36.25 &#177; 12.86 years; 47.0&#37; males and 53.0&#37; females) were studied. The etiology of acute pancreatitis was Gall stone disease in 52 (52.0&#37;), Alcoholism in 35 (35&#37;), and others in 13 patients (13&#37;). Of the 100 patients, acute fluid collections developed in 84 patients (84&#37;). Multiple organ failure developed in 18 patients (18&#37;). Respiratory failure developed in 68 patients (68&#37;) and renal failure developed in 15 patients (15&#37;), whereas 13 patients (13&#37;) developed shock. Seven of the 19 patients (36.84&#37;) with pH &#8804;7.35 died when compared with 1 of 81 patients (1.23&#37;) with pH &#62;7.35 (P &#61; 0.001). Seven of the 58 patients (13.79&#37;) with bicarbonate &#8804;24 mEq/L died when compared with 1 of 42 patients (2.38&#37;) with bicarbonate &#62;24 mEq/L (P &#61; 0.05). Seven of 36 patients (19.4&#37;) with base deficit &#8805;&#8722;4.0 died when compared with 1 of 64 patients (1.56&#37;) with base deficit &#62;4.0 (P &#61; 0.002). Conclusion: Low arterial pH, low bicarbonate levels, and higher base deficit at presentation predict an adverse outcome with more frequency of organ failure, need for intervention, and mortality. 


Outcome of anterior hypospadias repair: A single center experience
S Pramod, Gagan S Prakash

Archives of International Surgery 2018 8(1):10-15

Background: Hypospadias is a common congenital condition affecting the male phallus. It is characterized by abnormal opening of the urethra on the ventral aspect of the penis with ventral curvature of the phallus (chordee). Various surgical techniques have been described in the treatment of hypospadias. Evaluate the surgical outcome of anterior hypospadias repair including different procedures used to repair distal hypospadias. A retrospective observational study conducted by the Department of Pediatric Surgery, Kempegowda institute of medical sciences hospital, Bangalore from January 2014 to January 2018 over a period of 4 years. Patients and Methods: All children with anterior hypospadias were included in the study. Children underwent either meatal advancement and glanuloplasty (MAGPI) or Snodgrass urethroplasty depending on the type of hypospadias. On follow&#8211;up, children were evaluated for complications. Chi square test was used to test for relationships between categorical variables. Results: Fifty children were included in the study. Age ranges of children were between 9 months to 14 years. Coronal hypospadias was the most common variety (32&#37;). Chordee, undescended testis, inguinal hernia, and penile torsion were observed in 44&#37;, 4&#37;, 6&#37;, and 4&#37;, respectively. On preoperative ultrasonography, renal anomalies were observed in 4 (8&#37;) children. Out of 50 children, 25 underwent MAGPI and remaining 25 underwent Snodgrass repair. Postoperative complication was seen in nine children (18&#37;). Most common complication was urethral fistula seen in five (10&#37;) children followed-by meatal stenosis. Of these nine children with complication, only three children required resurgery. Conclusion: Distal hypospadias is uncommonly associated with renal anomaly, which was once again reiterated in our study. Undescended testis and inguinal hernia were the most common associated anomalies with distal hypospadias. MAGPI is choice in case of glanular and coronal hypospadias with minimal chordee. Snodgrass technique is excellent choice in subcoronal and distal penile hypospadias with chordee. 


Oral and maxillofacial soft tissue reconstruction using local flaps in Sokoto, Northwest Nigeria
Abdurrazaq Olanrewaju Taiwo, Ramat Oyebunmi Braimah, Adebayo Aremu Ibikunle, Micah Olalekan Gbotolorun, Mike Adeyemi, Benedict Chukwuma, Siddiq Abubakar

Archives of International Surgery 2018 8(1):16-20

Background: Owing to the aesthetics and functional concern, oral and maxillofacial soft tissue reconstruction requires meticulous planning with team approach. The aim of this paper is to present our experience in the use of local flaps in the reconstruction of oral and maxillofacial defects. This was a retrospective study of maxillofacial and oral soft tissue reconstruction using local flaps. Patients and Methods: The study was carried out in the Department of Dental and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital in northwest Nigeria over a 4-year period. Data such as age, sex, diagnosis, types of flaps used, complications and prognosis were collected and analysed with the IBM SPSS Statistics for windows Version 20 (Armonk, NY: IBM Corp). Results: Forty-two out of 64 cases of oral and maxillofacial soft tissue reconstruction (65.6&#37;) met the inclusion criteria for local flap utilisation. They consisted of 27 (64.3&#37;) males and 15 (35.7&#37;) females, with a male:female ratio of 1.8:1. Age ranged from 6 to 72 years with mean &#177; SD (24.2 &#177; 17.7). Temporomandibular joint ankylosis (TMJA) release was the main reason for soft tissue flap utilisation as an interpositional material in the maxillofacial region 30 (77.3&#37;). Temporalis myofascial flap 19 (45.2&#37;) was the commonest flap used. Most of our cases had no associated complications 39 (92.9&#37;), only 2 (4.8&#37;) patients had total flap failure. Conclusion: Where free tissue transfer is not feasible, local flaps remain a viable option. Good patient selection is essential to prevent some of the complications associated with their use. 


Experience with the use of local anesthesia in maxillofacial surgery
Kelvin Uchenna Omeje, Otasowie D Osunde, Benjamin Fomete, Roland Agbara, Thomas Owobu, Abdul Rasheed Suleiman

Archives of International Surgery 2018 8(1):21-26

Background: Recent advances in anesthesia and the need to manage patients&#39; perioperative anxiety along with escalating healthcare costs have resulted in an increasing number of surgical procedures being performed under local anesthesia (LA) especially as day-case surgeries worldwide. To report our experience with performing oral and maxillofacial surgeries under LA highlighting the advantages and limitations. Patients and Methods: This study was a retrospective analysis of patients who underwent maxillofacial surgical procedures under LA at Murtala Mohammed Specialist Hospital, Kano, Nigeria, over a 2-year period (January 2014&#8211;December 2015). Information collated included the patients&#39; demographics, clinical features, diagnosis, surgical operations performed, duration of hospitalization, and complications recorded. The data obtained were analyzed using Statistical Package for Social Sciences version 15.0. Results: A total of 92 patients comprising 58 males and 34 females with varying maxillofacial conditions were operated during the period of the study. Their ages ranged from 12 to 60 years with a mean age of 32 &#177; 4.4 years. The complications recorded in the patients included three cases of malocclusion (3.2&#37;), one case of wound dehiscence (1.1&#37;), paraesthesia of the lower lip in one patient (1.1&#37;), and cardiac arrest in one patient (1.1&#37;). Conclusion: Maxillofacial surgery under LA is a cost-effective approach to surgery with good outcomes in this environment. 


A prospective study of morbidity during adhesiolysis
Hanuman Prasad Gupta, Aditya Sharma, Amit Singh, Rekha Porwal

Archives of International Surgery 2018 8(1):27-31

Background: One of the most common causes of morbidity caused during adhesiolysis is inadvertent enterotomy. It is important to have awareness about the adhesiolysis-related morbidity to properly inform the patients of the risks before surgery, for surgeons to take these risks into consideration while making operative decisions, and to get better at the diagnosis of post-operative complications. Patients and Methods: We did a prospective observational study on 55 patients who underwent laparotomy for adhesiolysis at the J.L.N. Medical College, Ajmer. Study period was 24 months, from January 2015 to January 2017, including a follow-up period of 6 months. Our primary aim was to do a detailed assessment and analysis of adhesiolysis and to assess the post-operative complications related to adhesiolysis. Results: The incidence of full thickness bowel defects was 9 (16.36&#37;). Bowel resection and anastomosis were required in five operations (55.56&#37;). The severity of adhesions and adhesiolysis time was more with patients with two or more previous laparotomies, mean 132 &#177; 40.27 min. Re-admission rates were also much higher in patients who had enterotomy. Conclusion: This study has demonstrated the substantial clinical burden of adhesiolysis, particularly when a bowel defect occurs. 


Maxillectomy: Indications and outcome at a tertiary hospital in Nigeria – A review of 113 cases
Timothy O Aladelusi, Segun A Ogunkeyede, Victor I Akinmoladun

Archives of International Surgery 2018 8(1):32-37

Background: Maxillectomy is the surgical procedure often indicated for the management of tumours and some non-neoplastic conditions arising from or involving the maxilla. This procedure is associated with significant functional and aesthetic deficits with concomitant psychological effect. The aim of this study is to evaluate maxillectomies carried out in our facility over a 16-year period. Patients and Methods: This is a retrospective study of cases of maxillectomy carried out in the Departments of Oral and Maxillofacial Surgery and the Ear, Nose and Throat (ENT) of our hospital from 2000&#8211;2016. The clinical data retrieved from the records of patients included age, gender, presentation, site of lesion, surgical intervention and rehabilitation options. Results: A total of 113 maxillectomies were performed in 52 males and 61 females. The age range was 13&#8211;82 years with a mean age of 37.4 &#177; 16.1 years. Majority of participants are of a low-socioeconomic status. The mean duration of symptoms before presentation was 12.4 months. Malignant lesion (59/113) accounted for the majority of cases seen. Total maxillectomy was the most frequent procedure (53.1&#37;). Recurrence was seen in 20.4&#37; of all cases. Major limitations to therapeutic intervention were lack of fund and late presentation. Conclusion: Delay in presentation and lack of fund remains the main challenges in the management of sinonasal tumours. Management of the maxillectomy defect remains largely limited to rehabilitation with an obturator in our environment. 


Endoscopic management of massive stone load in a patient with repaired bladder exstrophy
Varun Vishnu Agarwal, Mukund Gopalkrishna Andankar, Hemant Rangnath Pathak

Archives of International Surgery 2018 8(1):38-40

Bladder exstrophy is a rare congenital malformation of the genitourinary system. Patients with exstrophy of the bladder who have undergone augmentation cystoplasty with Mitrofanoff procedure have a tendency of recurrent calculi formation. A 23-year-old female, with bladder exstrophy, underwent Mitrofanoff procedure and developed recurrent vesical calculi thereafter. She presented to us with a very massive stone load, which was managed successfully by endoscopic technique. She was also taught preventive measures thereafter and advised regular follow-up. The importance of the report is that it highlights urolithiasis as a recurrent complication of primary bladder exstrophy closure, which can be managed effectively and safely by modern endoscopic techniques in a hostile abdomen with reconstructed tract and inaccessible urethra. 


Unusual presentation of patients with prostate cancer in Zaria: A report of four cases
Ahmad Bello, Musliu Adetola Tolani, Muhammed Ahmed, Ahmed Tijjani Lawal, Dauda Eneyamire Suleiman, Balarabe Kabir, Abdullahi Sudi, Babatunde Kolapo Hamza, Oyelowo Nasir, Abdulsalam Ibrahim Khalifa, Hussaini Yusuf Maitama

Archives of International Surgery 2018 8(1):41-46

Advanced prostate cancer usually presents with lower urinary tract symptoms (LUTS) or metastatic bone disease. Detection of an associated jaundice, suprapubic, or flank mass is unusual in advanced disease just as associated visceral or cutaneous metastasis is quite an uncommon presentation in prostate cancer. We report four cases in this series to highlight the unusual presentations of this cancer with a huge suprapubic mass (case 1); jaundice with associated multiple, nodal, and soft tissue metastasis (case 2); associated retroperitoneal mass (case 3); and synchronous primary renal cancer with background HIV infection (case 4). In conclusion, patients with unusual presentation of prostate cancer may constitute diagnostic dilemma, especially in the setting of retroperitoneal or suprapubic mass. Despite the fact that the findings highlighted in this series were unusual, their response to hormonal ablation was good. 



Neurology and Neurosurgery

Neurosurgical contribution within a complex NF1 supraregional service

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): H. Raffalli-Ebezant, K.J. George, E. Burkitt-Wright, F. Roncaroli, G. Evans, C. Soh, J. Ealing, G. Vassallo, J.E. Elloo, K. Karabatsou

Abstract
Objectives

The goal of this study was to review and present neurosurgical related activity within a multidisciplinary nationally commissioned specialty neurofibromatosis type I (NF1) center.

Patients & methods

We reviewed all NF1 Neurosurgical MDTs, NF1 Neurosurgical clinics and all neurosurgical procedures carried out in NF1 patients over an 8-year period.

Results

Since the inception of the service in 2009, 1505 cases were discussed at our NF-1 multidisciplinary meeting, 171 clinic appointments in complex NF1 patients with neurosurgical pathologies and 43(cranial and spinal) operations were performed.

Conclusions

The formation of a supraregional multidisciplinary team allows for a better understanding of the disease, a comprehensive evaluation of neuroimaging findings and a steep learning curve in the management of NF1 surgical conditions.

We provide holistic treatment for these patients via direct care, specialist advice and liaison with local units.



Intensive blood pressure control reduces the risk of progressive hemorrhage in patients with acute hypertensive intracerebral hemorrhage: A retrospective observational study

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): Jian-Lan Zhao, Zhuo-Ying Du, Yi-Rui Sun, Qiang Yuan, Jian Yu, Xing Wu, Zhi-Qi Li, Xue-Hai Wu, Rong Xie, Jin Hu

Abstract
Objective

To investigate the impact of intensive blood pressure control on progressive intracerebral hemorrhage and outcome in patients with high blood pressure and intracerebral hemorrhage.

Patients and methods

A retrospective study was conducted recruiting 659 patients with acute hemorrhagic stroke between Jan. 2012 and May 2018. Patients recruited before May 2015 were treated with a target systolic level of <180 mm Hg, while those recruited after May 2015 received intensive blood pressure control treatment with a target systolic level of <140 mm Hg within 1 h. Uni- and multi-variate analysis were conducted to illustrate the association between intensive blood pressure control and progressive intracerebral hemorrhage. Mortality, rates of operation, length of ICU stay, modified Rankin scores at 90 days, and the rate of serious adverse events were also compared between the two groups.

Results

A total of 351 and 308 patients with acute hypertensive intracerebral hemorrhage were recruited before and after May 2015, respectively. Progressive intracerebral hemorrhage was identified among 111 out of 659 patients. Patients who received intensive blood pressure control showed a statistically lower rate of hematoma enlarging (43 of 308, 13.9% vs. 74 of 351, 21.1%, p = 0.018). The rates of operation and modified Rankin scores at 90 days were statistically lower with intensive blood control, while the mortality, length of ICU stay and rate of serious adverse events were similar between the two groups. Intensive BP control is an independent factor in predicting hematoma growing, with a more favorable discrimination (AUC = 0.889; 95%CI, 0.859–0.917) than other two models (AUC = 0.821; 95%CI, 0.791–0.852; and AUC = 0.635; 95%CI, 0.588–0.682).

Conclusion

Intensive blood pressure control reduce the risk of progressive intracerebral hemorrhage and improved functional outcomes in patients with acute hemorrhagic stroke.



The role of navigated transcranial magnetic stimulation for surgery of motor-eloquent brain tumors: a systematic review and meta-analysis

Publication date: May 2019

Source: Clinical Neurology and Neurosurgery, Volume 180

Author(s): Giovanni Raffa, Antonino Scibilia, Alfredo Conti, Giuseppe Ricciardo, Vincenzo Rizzo, Adolfo Morelli, Filippo Flavio Angileri, Salvatore Massimiliano Cardali, Antonino Germanò

Abstract

Navigated transcranial magnetic stimulation (nTMS) is an emerging tool for surgery of motor-eloquent intrinsic brain tumors, but a critical reappraisal of the literature evidence has never been performed, so far. A systematic review and meta-analysis was performed searching on PubMed/MEDLINE, and the Cochrane Central Register of Controlled Trials for studies that analyzed the impact of nTMS-based motor mapping on surgery of patients affected by motor-eloquent intrinsic brain tumors, in comparison with series of patients operated without using nTMS. The impact of nTMS mapping was assessed analyzing the occurrence of postoperative new permanent motor deficits, the gross total resection rate (GTR), the size of craniotomy and the length of surgery. Only eight studies were considered eligible and were included in the quantitative review and meta-analysis. The pooled analysis showed that nTMS motor mapping significantly reduced the risk of postoperative new permanent motor deficits (OR = 0.54, p = 0.001, data available from eight studies) and increased the GTR rate (OR = 2.32, p < 0.001, data from seven studies). Moreover, data from four studies documented the craniotomy size was reduced in the nTMS group (-6.24 cm2, p < 0.001), whereas a trend towards a reduction, even if non significant, was observed for the length of surgery (-10.30 min, p = 0.38) in three studies. Collectively, currently available literature provides data in favor of the use of nTMS motor mapping: its use seems to be associated with a reduced occurrence of postoperative permanent motor deficits, an increased GTR rate, and a tailored surgical approach compared to standard surgery without using preoperative nTMS mapping. Nonetheless, a growing need of high-level evidence about the use of nTMS motor mapping in brain tumor surgery is perceived. Well-designed randomized controlled studies from multiple Institutions are clearly advocated to continue to shed a light on this emerging topic.



Methyl-DOPA causing reversible peripheral facial palsy

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Josef Finsterer



Bias in determining factors associated with early seizures after surgery of unruptured intracranial aneurysms

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Mohammad Hossein Panahi, Razieh Bidhendi Yarandi



A rare cause of axial worsening in Parkinson's disease: A case of myasthenic pseudo-parkinsonism

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Massimo Marano, Jacopo Lanzone, Lazzaro di Biase, Alessio Pepe, Alessandro Di Santo, Vincenzo Di Lazzaro



Retrospective analysis of accuracy and positive predictive value of preoperative lumbar MRI grading after successful outcome following outpatient endoscopic decompression for lumbar foraminal and lateral recess stenosis

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Kai-Uwe Lewandrowski

Abstract
Objectives

The aim of this study was to analyze the accuracy and positive predictive value (PPV) of preoperative lumbar MRI grading for successful outcome after outpatient endoscopic decompression for lumbar foraminal and lateral recess stenosis. Lumbar MRI is commonly employed in preoperative decision making to identify symptomatic pain generators amenable to surgical decompression. However, its accuracy and positive predictive value for successful postoperative pain relief after endoscopic transforaminal decompression for sciatica-type back and leg pain has not been reported.

Patients and methods

A retrospective study of 1839 consecutive patients with a mean follow-up of 33 months that underwent lumbar endoscopic transforaminal decompression at 2076 lumbar levels was conducted. The sensitivity, specificity, accuracy, and positive predictive value of preoperative MRI grading correctly identifying the symptomatic surgical level were calculated based on the recorded intraoperatively visualized pathology and clinical outcomes assessed by both Macnab criteria and VAS score reduction.

Results

Of the 1839 patients evaluated, 1750 had intraoperatively visualized stenosis in the lateral recess at the surgical level whereas 89 patients did not. Analysis of radiologist grading of exiting nerve root compression in the lumbar MRI reports in patients with visualized compressive pathology: true positive (1196), false negative (554); as compared with patients without visualized compressive pathology showed: false positive (30), and true negative (59); and allowed for calculation of sensitivity (68.34%), specificity (68.29%), accuracy (68.24%) and the positive predictive value (97.38%) in relation to successful clinical outcome of the subsequent endoscopic decompression surgery. Sensitivity (87.2%), specificity (73.03%), and accuracy (86.51%) improved when the treating surgeon graded same MRI scan for traversing nerve root compression. Taking different spinal stenosis classification systems by the radiologist and surgeon into consideration, Kappa statistic assessment of agreement between radiology and surgeon reporting of stenosis showed different degrees of concordance for extruded herniated disc (κ = 0.42; 331 patients), contained disc herniation (κ = -0.01; 648 patients), and stenosis (κ = 0.25; 860 patients). Disagreement (κ = 0.216; 440 patients) predominantly existed in grading the relevance of foraminal stenosis in the entry- (κ = 0.18; 278/440 patients), mid- (κ = -0.036; 121/440 patients), and less so in the exit zone (κ = -0.036; 41/440 patients) associated with contained (κ = -0.10; 178/440 patients), extruded disc herniations (κ = 0.4; 62/440 patients), and stenosis (κ = 0.25; 200/440 patients).

Conclusion

The grading of a preoperative MRI scan for lumbar foraminal and lateral recess stenosis may significantly differ between radiologist and surgeon. The endoscopic spine surgeon should read and grade the lumbar MRI scan independently to aid in appropriate patient selection for successful transforaminal endoscopic decompression surgery. More contemporary MRI reporting criteria are needed to describe the surgical anatomy in the neuroforamen and lateral recess relevant during the minimally invasive endoscopic transforaminal decompression.



Long-term outcomes of deep brain stimulation in severe Parkinson's disease utilizing UPDRS III and modified Hoehn and Yahr as a severity scale

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Lora Kahn, Mansour Mathkour, Shu Xian Lee, Edna E. Gouveia, Joshua A. Hanna, Juanita Garces, Tyler Scullen, Erin McCormack, Jonathan Riffle, Ryan Glynn, David Houghton, Georgia Lea, Erin E. Biro, Cuong J. Bui, Olawale A. Sulaiman, Roger D. Smith

Abstract
Objectives

Deep brain stimulation (DBS) is the surgical treatment of choice for moderate to severe Parkinson's Disease (PD). However, few studies have assessed its efficacy in severe PD as defined by the modified Hoehn and Yahr scale (HY). This study evaluates long-term and medication outcomes of DBS in severe PD.

Patients and methods

We retrospectively collected the data of 15 patients from 2008 to 2014 with severe PD treated with DBS. Retrospective assessment with the modified Hoehn and Yahr scale and motor subset of the Unified Parkinson's Disease Rating Scale (UPDRS III) were used to objectively track severity and motor function improvement, respectively. Levodopa equivalence daily doses (LEDD), number of anti-PD medications and number of daily medication doses were used to measure improvements in medication burden. Data was evaluated using univariate analyses, one sample paired t-test, two sample paired t-test, and Wilcoxon signed-rank test.

Results

The mean post-operative follow-up was 44.63 months, average age at diagnosis and the average age at time of DBS was 51.3 years and 61.5 years, respectively, and the time from diagnosis to treatment was 13.2 years. Significant decreases were seen in UPDRS III scores (pre-op = 44.533; post-op = 26.13; p = 0.0094), LEDD (pre-op = 1679.34 mg; post-op = 837.48 mg; p = 0.0049), and number of daily doses (pre-op = 21.266; post-op 12.2; p = 0.0046). No significant decrease was seen in the number of anti-PD medications (pre-op = 3.8; post-op = 3.2; p = 0.16).

Conclusion

Following DBS, severe PD patients demonstrated significant improvements in motor function and medication burden during long-term follow-up. We believe our results prove that DBS is efficacious in the management of severe PD, and that further research should follow to expand DBS criteria to include severe disease.



Disability patterns over the first year after a diagnosis of epilepsy

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Ying Xu, Dennis R. Neuen, Nick Glozier, Armin Nikpour, Ernest Somerville, Andrew Bleasel, Carol Ireland, Craig S. Anderson, Maree L. Hackett

Abstract
Objective

To determine the patterns and predictors of disability over the first 12 months after a diagnosis of epilepsy.

Patients and methods

The Sydney Epilepsy Incidence Study to Measure Illness Consequences (SEISMIC) was a prospective, multicenter, community-based study of people with newly diagnosed epilepsy in Sydney, Australia. Disability was assessed using the World Health Organization's, Disability Assessment Schedule (WHODAS) 2.0 12-item version, at baseline (i.e. within 28 days of diagnosis) and 12 months post-diagnosis. Demographic, socioeconomic, clinical and epilepsy-related data, obtained through structured interviews, were entered into multivariable linear regression and shift analysis to determine predictors of greater disability.

Results

Of 259 adults (≥18 years), 190 (73%) had complete WHODAS at baseline (mean ± SD scores 4 ± 6) and follow-up (4 ± 8). After adjustment for age, sex and co-morbidity, greater overall disability at 12 months was associated with lower education (P = 0.05), economic hardship (P = 0.004), multiple antiepileptic medications (P = 0.02) and greater disability (P < 0.001) at the time of diagnosis; these variables explained 38.3% of the variance. Among the 12 WHODAS items, "being emotionally affected by health problems" was the most frequent disability problem identified at both time points (all P < 0.0001). The proportion of participants without problems in that domain improved over 12 months (from 24% to 50%, P < 0.0001), whereas the other 11 items remained relatively stable. Independent baseline predictors of a worse emotional outcome at 12 months were severe/extreme emotional distress (odds ratio [OR] 4.52, 95% confidence intervals [CI] 1.67–12.24), economic hardship (OR 2.30, 95% CI 1.24–4.25) and perceived stigma (OR 2.02, 95% CI 1.03–3.93).

Conclusion

Most people report problems with emotional health after a diagnosis of epilepsy but many recover over the next 12 months. Services addressing the social and psychological impact of diagnosis may be needed to improve outcome.



Predictors of reoperation and noninfectious complications following craniotomy for cerebral abscess

Publication date: April 2019

Source: Clinical Neurology and Neurosurgery, Volume 179

Author(s): Michael Longo, Chaim Feigen, Rafael De la Garza Ramos, Yaroslav Gelfand, Murray Echt, Vijay Agarwal

Abstract
Objectives

There is a paucity of literature that examines predictors of reoperation and noninfectious complications following treatment of cerebral abscess with craniotomy. The goal of the present study is to identify predictors for each of these outcomes.

Patients and methods

The American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database 2012–2016 file was the data source. Patients were identified using a combination of CPT and ICD-9/10 codes. Exclusions included missing age/gender, secondary surgery, and absent length of stay information. Univariate followed by multivariable analysis using logistic regression was used to identify significant predictors of reoperation and noninfectious postoperative complications (p < 0.05).

Results

166 patients met the above criteria. Median age was 56 (IQR 44–65) and 68.1% of patients were men. The 30-day reoperation rate was 18.1% and increasing white blood cell count (WBC) was identified as a significant risk factor for reoperation (odds ratio [OR] 1.10, 95% CI 1.02–1.19, p = 0.013). Noninfectious complications occurred at a rate of 20.5% at 30 days. Significant predictors were ASA classification ≥4 (OR 4.13, 95% CI 1.74–9.81, p = 0.001), smoking (OR 3.04, 95% CI 1.18–7.78, p = 0.020), and increasing WBC count (OR 1.11, 95% CI 1.03–1.20, p = 0.007). Emergency case status, abscess location (supratentorial versus infratentorial), nor chronic steroid use demonstrated a significant relationship with the studied outcomes.

Conclusion

Increasing preoperative WBC count predicts both reoperation and noninfectious complications following craniotomy for cerebral abscess. Less modifiable predictors for noninfectious complications which may help anticipate operative risk are smoking and high ASA classification.



Medical Genetics

Updates about ethical, legal and psychological implications of genetic testing in newborns, children and adolescents
Manal M Thomas

Middle East Journal of Medical Genetics 2018 7(2):51-61

Genetic diseases affect physical and psychological health status and social well-being of patients and their families. For that reason, many organizations in the genetic field have published new guidelines on ethical and legal issues regarding genetic testing in children and adolescents. This review article aims to highlight the guidelines regarding quality standards of genetic testing in children and adolescents stressing on the ethical, legal and psychological implications of genetic testing. Specific guidelines on genetic testing and laws must be designed in Egypt to regulate genetic testing and enhance patients&#39; rights putting specific legislations that comply with our traditions and beliefs. More knowledge and educational programs are recommended for health professionals and the public about measures to prevent diseases and promote health behaviors. 


Genetic syndromes with immunological disturbances
Iman Aly Helwa

Middle East Journal of Medical Genetics 2018 7(2):62-77

Generally speaking, immunodeficiency conditions express a genetic component. In some of these cases, patients may request medical advice due to immune disturbance rather than due to genetic abnormality. Sometimes, the immune defect is not encountered in all cases. Yet, in certain cases, it is realized after diagnosis, while in others the immune defect is not the main clinical problem at all. However, immune defects maybe fatal in some syndromes and require urgent intervention. This review presents a brief overview on the immune response and then delineate the genetic syndromes manifesting immunological abnormalities. 


Genome-editing technologies: Advancement, clinical applications, and ethical concerns
Wessam E Sharaf-Eldin, Heba A Hassan, Nagham M El-Bagoury, Mona L Essawi

Middle East Journal of Medical Genetics 2018 7(2):78-87

Genome editing is a powerful technology capable of precisely manipulating somatic and germline genomic sequences. The field is progressing at a rapid pace with unprecedented applications in biology and medicine. This systematic review represents a guide to different mechanisms, tools, and delivery systems used in genome editing. In addition, related ethical concerns are highlighted. So far, the most recent developed tool, clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated enzyme, represents the most widely used approach owing to its simple application and enhanced efficiency. Hence, the major part of the review focuses on the clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated enzyme technology and its diverse applicability. 


Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies
Mahmoud Y Issa, Samira Ismail, Nivine Helmy, Alaa K Kamel, Sherine K Amin, Olweya M Abdel Baky, Maha S Zaki

Middle East Journal of Medical Genetics 2018 7(2):88-95

Introduction Corpus callosum (CC) connects the left and right cerebral hemispheres. It is the largest white matter structure in the brain connecting mainly homotopic, as well as heterotopic, brain areas of both hemispheres. It has a major role in everyday behavior. Agenesis of CC can occur as isolated finding on MRI, or more commonly, it is associated with large number of brain anomalies. Patients and methods Neuropsychological and genetic assessment was done for 64 cases with corpus callosum abnormalities, whose age ranged from 6 months to 11 years and 9 months, with a mean age of 3 years and 6 months. This study was done from January 2012 till December 2014. Results Overall, 12.5&#37; of the cases had chromosomal aberrations, 14&#37; of the cases had identified genetic syndrome, and 73&#37; of the cases were nonsyndromic/unclassified. Variable degrees of mental subnormality were encountered among 58 (92.2&#37;) of 64 studied patients. Conclusion Abnormalities of the CC are often associated with cognitive deficits, autism, and epilepsy. 


Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder
Mona L Essawi, Nagham M Elbagoury, Ola M Sayed, Mona S Aglan, Mona M Ibrahim, Hala N Soliman, Ekram M Fateen

Middle East Journal of Medical Genetics 2018 7(2):96-103

Background Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) (OMIM: # 253200), is an autosomal recessive lysosomal storage disorder. It is caused by deficiency of the enzyme arylsulfatase B (ARSB), also known as N-acetylgalactosamine-4-sulfatase. ARSB is responsible for the degradation of the glycosaminoglycans dermatan sulfate and chondroitin 4-sulfate. Deficiency of the ARSB enzyme leads to accumulation of partially degraded dermatan sulfate in the lysosomes especially in connective tissues leading to clinical complications. Aim This study aimed at identifying the molecular basis of MPS VI (Mucopolysaccharidosis VI) among 15 Egyptian patients. Method Patients were from 15 families, age ranged from 1year and 5 months to 11 years and 9 months(5.19&#177;0.8) with parental consanguinity in 11 families out of 15 (73.3&#37;). All patients were subjected to all necessary clinical, radiological and biochemical assessments. Molecular assessment was carried out by sequencing the 8 coding exons of the ARSB gene for the fifteen studied patients. Results The disease causing mutations were revealed in 13 patients. Four novel mutations; c.257delA, c.189insA, p.Ser94Leu and p.Leu51Pro were identified as well as four previously reported mutations; p.Leu82Arg, p.Ser96Arg, p.Arg160X and p.Arg160Gln. Conclusion The study highlights the heterogeneity of the mutational pattern which was obvious in finding novel mutations in homozygous forms in approximately 40&#37; of the studied patients. Exons 1 and 2 seem to carry most of the mutations in the Egyptian MPS VI patients. Arginine at position 160 seems to be the most abundant mutational hot spot in the Egyptian MPS VI patients. 


Assessment of serum level of vitamin D in infants and children with Down syndrome
Manal M El-Hawary, Shahira M El-Shafie, Heba El-Awady, Tamer Ragab, Raooth Nabile

Middle East Journal of Medical Genetics 2018 7(2):104-111

Background Vitamin D has multiple extraskeletal functions. Patients with Down syndrome (DS) are at more risk of vitamin D deficiency owing to multiple environmental and hormonal factors, so vitamin D supplementation plays a vital role in their lifestyle. Objective The aim of the study is to assess serum vitamin D level and to study the several factors that may affect its level in infants and children with DS. Patients and methods The study enrolled 50 children, where 30 of them were diagnosed as having DS (group I) and the other 20 were defined as a control group (group II). Detailed systemic examination was performed for all participants. Anthropometric measurements including weight, height, and head circumference were assessed. Blood samples were collected and evaluated for 25-hydroxy vitamin D level. Results The mean serum vitamin D level was 30.65 &#177; 20.64 in group I compared with 55.80 &#177; 22.79 in group II, with significant P value of less than 0.0001. In patients with DS, 6.7&#37; were severely deficient (&#60;10 ng/ml), 53.3&#37; had insufficient serum vitamin D level (10&#8211;32 ng/ml), and 40&#37; had adequate serum vitamin D level (&#62;32 ng/ml). In group II, only 20&#37; had insufficient serum vitamin D level and 80&#37; had adequate level. Conclusion Vitamin D deficiency and insufficiency were more prevalent in patients with DS. Vitamin D insufficiency was also reported in the control group, which indicates that it is a common health problem even among healthy participants. Diet rich in vitamin D, adequate sun exposure, and vitamin D supplements prevent vitamin D deficiency. 


Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders
Hala T El-Bassyouni, Sahar M Abdel Raouf, Mona K Farag, Wasela M Nawito, Tarek M Salman, Khaled R Gaber

Middle East Journal of Medical Genetics 2018 7(2):112-117

Background Approximately 7&#37; of all pregnancies are complicated by gestational diabetes mellitus (GDM). Maternal complications pertaining to GDM are associated with a variety of complications in pregnancy, most notably preeclampsia (PE), which is characterized by an exaggerated systemic inflammatory response. The study aimed to examine the clinical significance of detection of the cytokine tumor necrosis factor alpha (TNF-&#945;) and interleukin-6 (IL-6) in pregnant women with GDM and PE. Patients and methods A total of 60 pregnant women, comprising 25 diagnosed with GDM, 15 with PE, and 20 controls normoglycemic and normotensive, were examined. TNF-&#945; and IL-6 were estimated. Results IL-6 concentration was significantly higher in the pregnant females who developed GDM and PE later during pregnancy compared with the control group (P &#60; 0.0001 and 0.003, respectively). TNF-&#945; concentration showed only significant difference in the women who developed GDM later during pregnancy when compared with the control group (P &#60; 0.0001). Conclusion TNF-&#945; and IL-6 have been proposed to play an important role in the prediction of the pathogenesis of GDM and PE. 


Genetic study of the association of specific language impairment to markers near FOXP2 gene
Mohammed M Sayed-Ahmed, Samira Ismail, Alia M El-Shoubary, Mona L Essawi, Moushira E Zaki, Ahmed N Khattab

Middle East Journal of Medical Genetics 2018 7(2):118-123

Background One important language gene is FOXP2, a mutation of which affects language and speech in relatively rare and severe forms. However, certain genetic markers adjacent to FOXP2 gene are highly suspected to be involved in common forms of specific language impairment (SLI). Identification of these genetic loci related to SLI may yield new insights into its causes, along with improved diagnosis, and treatment. Aim of the work To study the association of SLI to two genetic markers residing near FOXP2 gene, namely, the repeat unit GATA of D7S3052 marker and GATT tetranucleotide repeats in intron 6 of CFTR gene. Patients and methods The current study included 50 children with SLI and 50 normal controls, aged 3&#8211;8 years. All participants were subjected to genetic molecular association study as well as detailed protocol of assessment including full history and examination, and evaluation of language skills and mental ability (intelligence quotient). Results There was no difference between the SLI and normal groups regarding molecular results of GATT repeats of CFTR gene, and there was a nonsignificant difference regarding results of GATA repeats of D7S3052 marker (P &#62; 0.05). Conclusion The association of SLI with D7S3052 marker near FOXP2 gene in current study is statistically nonsignificant. However, a statistical significance of this association could be expected with a larger number of cases, more diversity of SLI types and degrees, and more comprehensive procedures. 


MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155
Nnaemeka D Ndodo, Barnabas Danborno, Samuel S Adebisi

Middle East Journal of Medical Genetics 2018 7(2):124-131

Background MicroRNAs (miRNAs) are conserved short 22-nucleotide RNAs with important roles in regulating gene expression. Misregulation of genes that control cell-cycle and cell-fate determination often contributes to cancer. The aims of this work were to evaluate the expressions of two oncogenic miRNA (oncomiRs), miR-21 and miR-155, in lung cancer, and to see whether reintroduction or inhibition of these would affect progression or aid sensitivities of the lung cancer cells to major chemotherapeutics. Methods This work involved cell culture of lung adenocarcinoma cells H358 and A549 and normal lung cells. It compared the miRNA expression profiles of two miRNAs (miR-21 and miR-155) in cancer and normal lung cell lines using real-time PCR and then treated with three known chemotherapeutics, namely cisplatin, etoposide and paclitaxel, and concluded by inhibiting overexpressed miRNA by transfecting the cancer cells with miRNA inhibitors, and proliferation was measured with sulforhodamine-B assay. Results showed that miR-21 was overexpressed in the entire cell lines used, which is consistent with the role of miR-21 as an oncomir, whereas miR-155 was downregulated, suggesting that miR-155 could be acting as a tumor suppressor. Furthermore, inhibition of miR-21 function in H358 lines using 50 nM Ambion anti-miR led to a decreased proliferation of H358 cells compared with the 50 nM anti-miR-155-treated group. Downregulation of miR-21 seems to sensitize lung cancer cells to chemotherapeutics (etoposide). Conclusion This work demonstrated that miR-21 at 50 nM might sensitize lung cancer cells to chemotherapeutics (etoposide) and that miR-155, a known oncogenic miRNA, seems to be acting as a tumor suppressor in lung cancer, which promises to be of immense therapeutic importance. 


Fragile X syndrome: diagnosis by molecular characterization of FMR1 gene and clinical correlation
Hoda M Abd El-Ghany, Eman A Ehssan, Menatalla K El-Deen, Rasha A Al-Gamal, Rania M Samy, Amany S El-Deen

Middle East Journal of Medical Genetics 2018 7(2):132-138

Background One of the most common forms of inherited intellectual disability (ID) is fragile X syndrome (FXS), which is caused by expansion of cytosine&#8211;guanine&#8211;guanine trinucleotide repeat at the 5&#8242; untranslated region of the fragile X mental retardation gene (FMR1) at Xq27. The cytosine&#8211;guanine&#8211;guanine repeat expansion leads to hypermethylation and inactive transcription of the gene. The present study aimed to detect expected FMR1 gene alleles by methylation-sensitive PCR and its clinical correlation for rapid screening of FXS among male patients with ID. Patients and methods The study included 50 male patients with ID and clinical features suggestive of FXS, who were compared with 50 healthy age-matched volunteers. All patients were subjected to full history taking, thorough clinical examination using a 15-item checklist [physical (big ears, joint hyperextensibility, Simian crease, wide forehead, macroorchidism, and elongated face) and neurological features (mental retardation, family history of mental retardation, poor eye contact, hand biting, hyperactivity, perservative speech, tactile defensiveness, hand flapping, and short attention span)], and karyotyping using GTG banding. Methylation-sensitive PCR technique after bisulfite treatment of DNA was applied for the detection of expanded alleles of the FMR1 gene. Results Clinical score in patients with abnormal alleles was significantly higher compared with patients with normal alleles. GTG-banding technique showed normal 46XY male karyotype for studied patients. Frequency of normal FMR1 gene alleles was detected in the control group (100&#37;) and 44 (88&#37;) patients. Abnormal alleles were detected in six (12&#37;) patients: three (6&#37;) patients with full mutation (FM) and three (6&#37;) patients with premutation carrier. Conclusion Our study revealed that PCR-positive results of fragile X correlate with the checklist clinical score rather than a single clinical entity.