22 results on '"Helmy SM"'
Search Results
2. Wavelet and time-based cerebral autoregulation analysis using diffuse correlation spectroscopy on adults undergoing extracorporeal membrane oxygenation therapy.
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Dar IA, Khan IR, Johnson TW, Helmy SM, Cardona JI, Escobar S, Selioutski O, Marinescu MA, Zhang CT, Proctor AR, AbdAllah N, Busch DR, Maddox RK, and Choe R
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- Humans, Male, Female, Middle Aged, Adult, Prospective Studies, Wavelet Analysis, Aged, Spectrum Analysis methods, Extracorporeal Membrane Oxygenation methods, Homeostasis, Cerebrovascular Circulation physiology
- Abstract
Introduction: Adult patients who have suffered acute cardiac or pulmonary failure are increasingly being treated using extracorporeal membrane oxygenation (ECMO), a cardiopulmonary bypass technique. While ECMO has improved the long-term outcomes of these patients, neurological injuries can occur from underlying illness or ECMO itself. Cerebral autoregulation (CA) allows the brain to maintain steady perfusion during changes in systemic blood pressure. Dysfunctional CA is a marker of acute brain injury and can worsen neurologic damage. Monitoring CA using invasive modalities can be risky in ECMO patients due to the necessity of anticoagulation therapy. Diffuse correlation spectroscopy (DCS) measures cerebral blood flow continuously, noninvasively, at the bedside, and can monitor CA. In this study, we compare DCS-based markers of CA in veno-arterial ECMO patients with and without acute brain injury., Methods: Adults undergoing ECMO were prospectively enrolled at a single tertiary hospital and underwent DCS and arterial blood pressure monitoring during ECMO. Neurologic injuries were identified using brain computerized tomography (CT) scans obtained in all patients. CA was calculated over a twenty-minute window via wavelet coherence analysis (WCA) over 0.05 Hz to 0.1 Hz and a Pearson correlation (DCSx) between cerebral blood flow measured by DCS and mean arterial pressure., Results: Eleven ECMO patients who received CT neuroimaging were recruited. 5 (45%) patients were found to have neurologic injury. CA indices WCOH, the area under the curve of the WCA, were significantly higher for patients with neurological injuries compared to those without neurological injuries (right hemisphere p = 0.041, left hemisphere p = 0.041). %DCSx, percentage of time DCSx was above a threshold 0.4, were not significantly higher (right hemisphere p = 0.268, left hemisphere p = 0.073)., Conclusion: DCS can be used to detect differences in CA for ECMO patients with neurological injuries compared to uninjured patients using WCA., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Dar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
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- 2024
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3. Molecular characterization of antimicrobial resistance genes of Staphylococcus aureus isolated from mastitic camel milk in Egypt.
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Ali MM, Helmy SM, Fahmy HA, Elaadli H, and Eldesoukey IE
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Staphylococcus aureus is one of the most common causes of mastitis worldwide. This study aimed to determine the prevalence and antimicrobial resistance (AMR) patterns of S. aureus in mastitic milk samples collected from camel farms in Matrouh Governorate, Egypt. A total of 200 mastitic camel milk samples were evaluated for S. aureus using both conventional culture-based and molecular-based methods. Antibiotic susceptibility testing of S. aureus isolates was conducted using disc diffusion and agar dilution methods, with antibiotic resistance genes identified through polymerase chain reaction with specific primers. Out of samples tested, 60 (30.00%) were positive for S. aureus . The isolates displayed the highest of resistance against piperacillin-tazobactam (55.00%) followed by trimethoprim- sulfamethoxazole (45.00%) and amoxicillin (40.00%). Half of the isolates were multidrug-resistant (MDR). The AMR genes included methicillin-resistant gene ( mecA ), β-lactamase gene ( blaZ ), tetracycline resistance gene ( tetK ), erythromycin resistance gene ( ermB ) and vancomycin resistant gene ( vanA ) were detected in 100%, 100%, 95.00%, 90.00% and 20.00% of the isolates, respectively. In conclusion, the presence of MDR S aureus as a cause of clinical camel mastitis is a significant veterinary and public health concern. These findings highlight the importance of proper antibiotic use in Egyptian camel farms and the need for molecular techniques to fully understand the genetic profile of antimicrobial-resistant S. aureus isolates., Competing Interests: None of the authors have no conflict of interest to declare., (© 2024 Urmia University. All rights reserved.)
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- 2024
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4. Clinical, radiological profile and prognostic role of transcranial color-coded duplex in cerebral venous thrombosis: a case-control study.
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Aboul Fotouh AM, Helmy SM, Mourad HS, Abdelbaky HA, and Hatem G
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- Humans, Female, Male, Prognosis, Case-Control Studies, Intracranial Thrombosis diagnosis, Cerebral Veins, Venous Thrombosis diagnostic imaging
- Abstract
Background: Cerebral venous thrombosis is a rare type of stroke, occurring more among young individuals. The presentation is highly variable, and this can delay diagnosis and management, thereby affecting outcome. The aim is to study the clinical, radiological profile, risk factors for cerebral venous thrombosis (CVT) and the role of transcranial color-coded duplex (TCCD) in CVT prognosis among Egyptian patients., Methods: Eighty CVT patients and 80 normal healthy individuals were included. Magnetic resonance imaging, magnetic resonance venography, and genetic thrombophilia tests were done for patients. Deep cerebral venous system was evaluated using B-mode transcranial color-coded duplex (TCCD) for both groups., Results: Showed female predominance with gender specific risk factors being the most common etiology. The most common hereditary thrombophilia was homozygous factor V Leiden mutation and anti-thrombin III (AT III). Headache was the most common presentation. Forty-three patients had transverse sinus thrombosis. Regarding TCCD, there was an increase in mean blood flow velocities, peak flow velocities and end diastolic flow velocities in deep middle cerebral vein and basal veins in CVT group compared to control group. There was a positive correlation not reaching statistical significance between flow velocities in the deep venous system and modified Rankin Scale., Conclusion: Clinical presentation is extremely variable. In our population, homozygous factor V Leiden mutation and AT III deficiency were the most common. Increased deep cerebral venous system flow velocities using TCCD in patients with CVT reflect their venous hemodynamic state., (© 2023. BioMed Central Ltd., part of Springer Nature.)
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- 2023
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5. Prevalence, virulence factors, and antimicrobial resistance profiles of Shiga toxin-producing Escherichia coli isolated from broiler chickens in Egypt.
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Hasona IF, Helmy SM, and El Gamal AM
- Abstract
Pathogenic Escherichia coli is one of the world's most important zoonotic foodborne pathogens and poses a serious threat to public health. We examined the prevalence, virulence genes, and antibiotic resistance profile of Shiga toxin (Stx)-producing E. coli (STEC) isolated from broiler chickens in the Kafr El-Sheikh governorate, Egypt. A total of 410 samples (230 cloacal swabs, 180 internal organs) were collected to isolate E. coli . A total of 29 (7.07%) E. coli isolates were recovered and identified, and 18 of them harbored Stx genes ( stx ). Out of 18 isolates, five (17.24%) carried the stx 1 gene, five (17.24%) carried the stx 2 gene, four (13.79%) carried both stx 1 and stx 2 genes, and four (13.79%) carried stx 1 , stx 2 , and eae A genes. Overall, complete anti-biotic resistance was observed against amoxicillin, ampicillin, cefpodoxime, and cefoperazone; high resistance was observed against ampicillin/sulbactam, nalidixic acid, cefuroxime, aztreonam, ciprofloxacin, ceftriaxone, chloramphenicol, sulfamethoxazole/trimethoprim, and ceftazidime; moderate resistance against gentamicin; low resistance against cefoxitin; lower resistance was detected against norfloxacin, cefotetan, and amikacin; and the lowest resistance against imipenem. All E. coli isolates demonstrated multidrug resistance against at least four antibiotic classes. Out of 29 E. coli isolates, STEC accounted for 18 isolates, of which the O78, O26:H11, O128:H2, O1:H7, O119:H6, and O91:H21 serogroups were predominant. All E. coli isolates were multidrug resistant and therefore pose a potential public health concern as these virulent, resistant strains may spread to humans. Thus, high levels of hygiene and biosecurity are required by chicken handlers to decrease the danger of infection spreading to humans., Competing Interests: The authors declare no financial or conflict of interest regarding this study that could inappropriately influence the work., (© 2023 Urmia University. All rights reserved.)
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- 2023
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6. Virulence genes and antibiotic resistance profile of Vibrio species isolated from fish in Egypt.
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Abdelaziz Gobarah DE, Helmy SM, Mahfouz NB, Fahmy HA, and Abou Zeid MAEHM
- Abstract
Vibrio species are significant pathogens affecting aquatic species. Around 12 species of Vibrio can cause a gastrointestinal illness (gastroenteritis) in humans resulting from eating contaminated food such as raw or undercooked shellfish. The indiscriminate use of antibiotics accelerates the development of resistance representing a severe challenge for controlling Vibrio outbreaks. In this study, the antibiotic resistance profile and the prevalence of pathogenic Vibrio species of apparently healthy and diseased fishes isolated from different types of fish in Kafr EL-Sheikh Governorate in Egypt during 2018 were determined. Samples obtained from fishes were inoculated onto a Vibrio -selective medium (TCBS) and phenotypically identified using the biochemical characteristics and representative cultures were checked by PCR to confirm the identified isolates. In the present study, V. alginolyticus (16.00%) was the predominant species followed by V. cholerae (7.33%) and V. parahaemolyticus (5.33%). The tested isolates were resistant to ampicillin (80.00%) and sensitive to ciprofloxacin and norfloxacin (100%). A total number of 15 Vibrio isolates (five Vibrio parahaemolyticus, five V. alginolyticus , and five V. cholerae ) were screened for five housekeeping genes and pathogenic virulence markers by PCR. Results showed that 100% of the V. parahaemolyticus isolates carried the tlh gene and 60.00% carried the tdh gene. In V. alginolyticus , 100% of the isolates carried the collagenase gene 0.00% carry the tdh gene; and 80.00% of V. cholerae isolates carried the ctx gene. The results showed that many isolates in this study had virulence characteristics that might correspond with the potential of infections and diseases., Competing Interests: The authors declare no financial or conflict of interest regarding this study that could inappropriately influence the work., (© 2022 Urmia University.)
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- 2022
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7. Peripheral magnetic theta burst stimulation to muscles can effectively reduce spasticity: a randomized controlled trial.
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El Nahas N, Kenawy FF, Abd Eldayem EH, Roushdy TM, Helmy SM, Akl AZ, Ashour AA, Emara TH, Moawad MM, Amin RM, and Elbokl AM
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- Humans, Magnetic Phenomena, Muscle Spasticity etiology, Muscles, Transcranial Magnetic Stimulation methods, Treatment Outcome, Botulinum Toxins, Type A therapeutic use, Stroke complications
- Abstract
Background: Spasticity is a common complication of many neurological diseases and despite contributing much disability; the available therapeutic options are limited. Peripheral magnetic stimulation is one promising option. In this study, we investigated whether peripheral intermittent theta burst stimulation (piTBS) will reduce spasticity when applied directly on spastic muscles., Methods: In this sham-controlled study, eight successive sessions of piTBS were applied directly to spastic muscles with supra threshold intensity. Assessment was done by modified Ashworth scale (mAS) and estimated Botulinum toxin dose (eBTD) at baseline and after the 8th session in both active and sham groups., Results: A total of 120 spastic muscles of 36 patients were included in the analysis. Significant reduction of mAS and eBTD was found in the active compared to sham group (p < 0.001). The difference in mAS was also significant when tested in upper limb and lower limb subgroups. The degree of reduction in mAS was positively correlated with the baseline scores in the active group., Conclusion: piTBS could be a promising method to reduce spasticity and eBTD. It consumes less time than standard high frequency protocols without compromising treatment efficacy., Trial Registration: Clinical trial registry number: PACTR202009622405087. Retrospectively Registered 14th September, 2020., (© 2022. The Author(s).)
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- 2022
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8. Multimodality Imaging in Aortic Stenosis.
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Karim SA and Helmy SM
- Abstract
Aortic stenosis (AS) is the most common cardiac valve lesion in the adult population, with an incidence increasing as the population ages. Accurate assessment of AS severity is necessary for clinical decision-making. Echocardiography is currently the diagnostic method of choice for assessing and managing AS. Transthoracic echocardiography is usually sufficient in most situations. Transesophageal echocardiography and stress echocardiography may also be utilized when there is inadequate image quality and/or discordance in the results and the clinical presentation. There is a role for other imaging modalities such as cardiac computed tomography, magnetic resonance imaging, and catheterization in selected cases. The following describes in some detail the role of these modalities in the diagnosis and assessment of AS., Competing Interests: There are no conflicts of interest., (Copyright: © 2022 Heart Views.)
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- 2022
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9. Navigated perilesional transcranial magnetic stimulation can improve post-stroke visual field defect: A double-blind sham-controlled study.
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El Nahas N, Elbokl AM, Abd Eldayem EH, Roushdy TM, Amin RM, Helmy SM, Akl AZ, Ashour AA, Samy S, Amgad A, Emara TH, Nowara M, and Kenawy FF
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- Double-Blind Method, Humans, Transcranial Magnetic Stimulation, Treatment Outcome, Vision Disorders etiology, Vision Disorders therapy, Visual Field Tests, Visual Fields, Stroke complications, Stroke therapy, Stroke Rehabilitation
- Abstract
Background: Visual field defects (VFD) usually do not show improvement beyond 12 weeks from their onset. It has been shown that repetitive presentation of a stimulus to areas of residual vision in cases of visual field defect can improve vision. The counterpart of these areas in the brain are the partially damaged brain regions at the perilesional areas where plasticity can be enhanced., Objective: We aimed to study the effect of navigated repetitive transcranial magnetic stimulation (rTMS) applied to perilesional areas on the recovery of patients with cortical VFD., Methods: Thirty-two patients with cortical VFD secondary to stroke of more than 3 months duration received 16 sessions of either active or sham high frequency navigated perilesional rTMS. Automated perimetry and visual functioning questionnaire (VFQ-25) were performed at baseline and after completion of the sessions., Results: The active group showed significant improvement after intervention, compared to the sham group, in both mean deviation (MD), visual field index (VFI) and in the VFQ-25 scores., Conclusions: Navigated rTMS is a new treatment option for post-stroke VFD as it can selectively stimulate areas of residual vision around the infarcted tissue, improving the threshold of visual stimulus detection which could be used alone or in combination with existing therapies.
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- 2021
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10. Safe Echocardiographic Practice in Hamad Medical Corporation during the Coronavirus Disease 2019 Pandemic.
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Al-Hashemi MAA, Kumar SA, Al-Mohamadi MAMY, Garcia MLB, and Helmy SM
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The coronavirus disease 2019 (COVID-19) pandemic has strained our healthcare system. Certain changes in practice were mandatory to protect our sonographers who carry a very high risk of being infected, and the patients whom we serve. This article aims to share this experience with you., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Heart Views.)
- Published
- 2020
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11. Right Atrial Pseudoaneurysm Complicating Epithelioid Hemangioendothelioma.
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Moidy MJ, Ibrahim OAM, Ali Khalifa EAI, and Helmy SM
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Cardiac pseudoaneurysm is uncommon among young adults with trauma. Infection, prior cardiac procedure, or cardiac operations are the most common reported causes. Right atrial pseudoaneurysm (RAPA) is extremely rare. Although often challenging to diagnose, advances in noninvasive imaging have improved the ability to diagnose cardiac pseudoaneurysms. We present a case of RAPA, highlighting the diagnostic accuracy of echocardiography in this rare entity., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Heart Views.)
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- 2020
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12. Eternal Magic of the Pharoahs.
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Helmy SM
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- 2020
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13. Light at the end of the tunnel: Improvement of post-stroke visual field defect after open-label navigated perilesional rTMS.
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El Nahas NM, Elbokl AM, Amin RM, Roushdy TM, Ashour AA, Akl AZ, Abd Eldayem EH, Helmy SM, Nowara M, and Emara TH
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- 2019
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14. Predictors of stroke outcome: the role of hemorheology, natural anticoagulants, and serum albumin.
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Hashem SS, Helmy SM, El-Fayomy NM, Oraby MI, Menshawy M, Dawood NA, and Hashem HS
- Abstract
Background: The early hours after an acute stroke are crucial; early accurate prediction of outcome in stroke patients can help health system providers and families to choose appropriate lines of management and plan for the future. The aim of this work is to assess the role of hemorheological parameters (such as blood viscosity, hematocrit, platelet aggregation, and leukocyte count), protein C, protein S, antithrombin III, and serum albumin as predictors of stroke outcome., Methods: Thirty subjects, 20 patients with acute ischemic stroke within 24 h from the onset and 10 normal subjects, were included in this case control study. Clinical, functional, and radiological evaluation was done for the patients, and all patients and control were subjected to routine laboratory tests and assessment of blood viscosity, hematocrit level, platelet aggregation, protein C, protein S, and antithrombin III., Results: Platelet aggregation was significantly higher and serum albumin was significantly lower in stroke patients compared to control ( p value = 0.000 and 0.039) respectively. On comparing between patient with good and poor outcome, good outcome was associated with increased serum albumin level at admission ( p value = 0.03) respectively. A significant negative correlation was found between total leukocyte count, hematocrit value, and stroke outcome ( p value = 0.015 and 0.013) respectively. Only albumin was found to be a significant predictor for outcome by linear regression analysis., Conclusion: Serum albumin, hematocrit level, and total leukocyte count at the time of presentation of ischemic stroke are useful markers for stroke outcome., Competing Interests: A written informed consent was obtained from each participant in this study or from one of his family members, and the study was approved by the local ethical committee in Faculty of Medicine, Cairo University, in 28-9-2010.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
- Published
- 2018
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15. Hypertrophic Cardiomyopathy: Prevalence, Hypertrophy Patterns, and Their Clinical and ECG Findings in a Hospital at Qatar.
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Helmy SM, Maauof GF, Shaaban AA, Elmaghraby AM, Anilkumar S, Shawky AH, and Hajar R
- Abstract
Background: Hypertrophic cardiomyopathy (HCM) is a genetic disease associated with risk of morbidity and sudden cardiac death. The prevalence, hypertrophy patterns, mode of presentations, and different ECG findings vary in different regions of the world. To date, no data is present regarding these variables in Qatar., Patients and Methods: A retrospective, cross sectional, descriptive analysis of all patients referred for echocardiography study at Hamad General Hospital, Qatar. The study period was from January 2008 till December 2010., Aims: To study 1) the prevalence of HCM, 2) the different patterns of hypertrophy, and 3) the clinical and ECG presentations in this population., Results: Out of the 29,286 cases evaluated, 38 patients were found to have HCM (0.13%). Their clinical, ECG, and echocardiography findings were analyzed. Mean age was 47 y, 35 males (92%) and 3 females (8%). Four patterns of hypertrophy were described; 17 (44.7%) had septal hypertrophy alone, 6 (15.8%) had septal and other segments hypertrophy but sparing the apex, 10 (26.3%) had apical segments along with any other segment hypertrophy, and 5 (13.2%) had apical hypertrophy alone. No obstruction was found in 19 (50%), left ventricular outflow (LVO) tract obstruction was found in 13 (34%), and mid cavity obstruction (MCO) in 6 (16%). Twenty one (55.3%) patients were referred because of chest pain, 15 (39.5%) with palpitations, 15 (39.5%) with shortness of breath, and 5 (13.2%) with syncope. Nine patients (23.7%) were asymptomatic and were referred because of cardiac murmur during routine examination. ECG evidence of LV hypertrophy was found in 29 (76.3%)., Conclusion: The prevalence of HCM in our population group is 0.13% with a male predominance (12:1). There was a diversity of clinical presentation, ECG abnormalities and patterns of LV hypertrophy among HCM patients.
- Published
- 2011
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16. A clip in the heart.
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Helmy SM and Hajar R
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- 2011
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17. Prenatal diagnosis of fetal aneuploidies using QF-PCR: the egyptian study.
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Atef SH, Hafez SS, Mahmoud NH, and Helmy SM
- Abstract
Background: The most common chromosomal abnormalities identified at birth are aneuploidies of chromosome 21, 18, 13, X and Y. Prenatal diagnosis of fetal aneuploidies is routinely done by traditional cytogenetic culture; a major drawback of this technique is the long period of time required to reach a diagnosis. In this study we evaluated the QF-PCR as a rapid technique for prenatal diagnosis of common aneuploidies., Method: THIS WORK WAS CARRIED OUT ON SIXTY AMNIOTIC FLUID SAMPLES TAKEN FROM PATIENTS WITH ONE OR MORE OF THE FOLLOWING INDICATIONS: advanced maternal age (3 case), abnormal biochemical markers (6 cases), abnormal ultrasound (12 cases) or previous history of abnormal child (39 cases). Each sample was tested by QF-PCR and traditional cytogenetic. Aneuploidy screenings were performed amplifying four STRs on chromosomes 21, 18, 13, two pseudoautosomal, one X linked, as well as the AMXY and SRY. Markers were distributed in two multiplex QFPCR assays (S1 and S2) in order to reduce the risk of sample mishandling., Results: All the QF-PCR results were successful, while there were two culture failures, only one of them was repeated. No discrepancy was seen between the results of both techniques. Fifty six samples showed normal patterns, three samples showed trisomy 21, successfully detected by both techniques and one sample showed normal pattern by QF-PCR but could not be compared to the cytogenetic due to culture failure, the pregnancy outcome of this case was a normal baby., Conclusion: Our study concluded that QF-PCR is a reliable technique for prenatal diagnosis of the common chromosomal aneuploidies. It has the advantages over the cytogenetic culture of being faster with the results appearing within 24-48 hours, simpler, doesn't need a highly qualified staff, less prone to failure and more cost effective.
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- 2011
18. Echocardiography in left ventricular assist device.
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Helmy SM, Albinali A, and Hajar R
- Abstract
LVAD = Left Ventricular Assist Device; LV = Left Ventricle; LA = Left Atrium; AO = Aorta.
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- 2010
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19. Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome.
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Helmy SM, Ismail S, Bassiouni R, and Gaber KR
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- Chromosomes, Human, Pair 21, Down Syndrome genetics, Gene Dosage, Glyceraldehyde-3-Phosphate Dehydrogenases genetics, Humans, Polymerase Chain Reaction, Sensitivity and Specificity, Down Syndrome diagnosis, Prenatal Diagnosis methods
- Abstract
Background: Down syndrome, the most common birth defect, is caused by trisomy 21. The aim of this study was to investigate whether quantitative real-time PCR can be used as a sensitive technique for prenatal diagnosis of Down syndrome., Methods: We used a quantitative real-time PCR technique to measure the gene dosage of the Down syndrome critical region (DSCR3) by calculating the ratio of DSCR3 to GAPDH using standard curves. Sex-determining region Y was simultaneously detected by real-time PCR to identify the sex of the fetus., Results: The DSCR3/GAPDH ratio of the trisomy 21 fetus samples and that of normal controls was 0.72 +/- 0.34 and 0.54 +/- 0.18, respectively., Conclusion: In this study, there was no significant difference in the DSCR3/GAPDH ratio between the fetal and peripheral blood DNA samples of trisomy 21 fetuses and those of normal controls., (Copyright (c) 2009 S. Karger AG, Basel.)
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- 2009
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20. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
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Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, and Ruiz-Perez VL
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- Adolescent, Adult, Child, Female, Genome, Human, Humans, Intercellular Signaling Peptides and Proteins, Male, Membrane Proteins, Proteins genetics, Ellis-Van Creveld Syndrome genetics, Gene Deletion, Intellectual Disability genetics, Long Interspersed Nucleotide Elements physiology
- Abstract
Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected individuals with the two genes inactivated on each allele. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, we detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the deletion are deficient in EVC and EVC2 and have no increase in the severity of the EvC typical features. Similarly deletion carriers demonstrate absence of digenic inheritance in EvC. Further, the phenotype of these patients suggests that the EVC-STK32B deletion also leads to mild mental retardation and reveals that loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit. In an EvC compound heterozygote of different ethnic origin we identified the same LINE-to-LINE rearrangement due to a different recombination event. These findings highlight the importance of L1 repetitive sequences in human genome architecture and disease.
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- 2008
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21. Nitric oxide generation by peripheral blood cells in chronic renal failure.
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Fayed HM, Kame MA, Sultan MM, Mowafy MN, Helmy SM, and El-Zoghby MH
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- Aged, Blood Platelets metabolism, Humans, Kidney Failure, Chronic therapy, Middle Aged, Monocytes metabolism, Neutrophils metabolism, Renal Dialysis, Superoxide Dismutase blood, Uremia blood, Kidney Failure, Chronic blood, Nitric Oxide biosynthesis
- Abstract
Nitric oxide (NO), a labile free radical synthesised from L-arginine by the action of nitric oxide synthase (NOS), is said to be implicated in uraemic complications, such as infection and a tendency to bleed. In this study of NO production by peripheral blood cells, an increased level is seen in platelets from uraemic patients (both non-dialysed and haemodialysed) and a decreased level in leucocytes (neutrophils and monocytes). A negative correlation was noted between blood urea level and inducible NO in neutrophils and monocytes in uraemic patients not on dialysis. In contrast, haemodialysis appears to lead to an increase in inducible NO production in neutrophils and monocytes. Plasma NO levels were significantly increased in uraemic patients, compared with normal controls, and hemodialysis led to further increases. Superoxide dismutase (SOD) activity was significantly reduced in platelets, neutrophils and monocytes in the uraemic group. It is concluded that increased NO production by platelets may contribute to the bleeding tendency observed in uraemia, and high urea concentrations may contribute to the regulation of inducible NO production in leucocytes.
- Published
- 2002
22. Left ventricular filling characteristics in pulmonary hypertension: a new mode of ventricular interaction.
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Stojnic BB, Brecker SJ, Xiao HB, Helmy SM, Mbaissouroum M, and Gibson DG
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- Adolescent, Adult, Diastole physiology, Echocardiography, Echocardiography, Doppler, Female, Humans, Hypertension, Pulmonary diagnostic imaging, Male, Middle Aged, Ventricular Function, Right physiology, Hypertension, Pulmonary physiopathology, Ventricular Function, Left physiology
- Abstract
Objective: To examine the effects of pulmonary hypertension on left ventricular diastolic function and to relate the findings to possible mechanisms of interdependence between the right and left sides of the heart in ventricular disease., Design: A retrospective and prospective analysis of echocardiographic and Doppler studies., Setting: A tertiary referral centre for both cardiac and pulmonary disease., Patients: 29 patients with pulmonary hypertension (12 primary pulmonary hypertension, 10 pulmonary fibrosis, five atrial septal defect (ASD), and two scleroderma) were compared with a control group of 10 patients with an enlarged right ventricle but normal pulmonary artery pressure (six ASD, one after ASD closure, one ASD and pulmonary valvotomy, one tricuspid valve endocarditis and repair, and one pulmonary fibrosis). None had clinical or echocardiographic evidence of intrinsic left ventricular disease., Main Outcome Measures: M mode echocardiographic measurements were made of septal thickness, and left and right ventricular internal cavity dimensions. Doppler derived right ventricular to right atrial pressure drop, and time intervals were measured, as were isovolumic relaxation time, and Doppler left ventricular filling characteristics., Results: The peak right ventricular to right atrial pressure gradient was (mean (SD)) 60 (16) mm Hg in pulmonary hypertensive patients, and 18 (5) mm Hg in controls. The time intervals P2 to the end of the tricuspid regurgitation, and P2 to the start of tricuspid flow were both prolonged in patients with pulmonary hypertension compared with controls (115 (60) and 120 (40) v 40 (15) and 45 (10) ms, p values less than 0.001). Pulmonary hypertensive patients commonly had a dominant A wave on the transmitral Doppler (23/29); however, all the controls had a dominant E wave. Isovolumic relaxation time of the left ventricle was prolonged in pulmonary hypertensive patients compared with controls, measured as both A2 to mitral valve opening (80 (25) v 50 (15) ms) and as A2 to the start of mitral flow (105 (30) v 60 (15) ms, p values less than 0.001). The delay from mitral valve opening to the start of transmitral flow was longer in patients with pulmonary hypertension (30 (15) ms) compared with controls (10 (10) ms, p less than 0.001). At the time of mitral opening there was a right ventricular to right atrial gradient of 12 (10) mm Hg in pulmonary hypertensive patients, but this was negligible in controls (0.4 (0.3) mm Hg, p less than 0.001)., Conclusions: Prolonged decline of right ventricular tension, the direct result of severe pulmonary hypertension, may appear as prolonged tricuspid regurgitation. It persists until after mitral valve opening on the left side of the heart, where events during isovolumic relaxation are disorganised, and subsequent filling is impaired. These effects are likely to be mediated through the interventricular septum, and this right-left ventricular asynchrony may represent a hitherto unrecognised mode of ventricular interaction.
- Published
- 1992
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