5 results on '"AlJoufan M"'
Search Results
2. Transcriptomal Insights of Heart Failure from Normality to Recovery.
- Author
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Quttainah M, Raveendran VV, Saleh S, Parhar R, Aljoufan M, Moorjani N, Al-Halees ZY, AlShahid M, Collison KS, Westaby S, and Al-Mohanna F
- Subjects
- Animals, Echocardiography, Heart, Hypertrophy, Sheep, Heart Failure diagnosis, Ventricular Dysfunction, Left
- Abstract
Current management of heart failure (HF) is centred on modulating the progression of symptoms and severity of left ventricular dysfunction. However, specific understandings of genetic and molecular targets are needed for more precise treatments. To attain a clearer picture of this, we studied transcriptome changes in a chronic progressive HF model. Fifteen sheep ( Ovis aries ) underwent supracoronary aortic banding using an inflatable cuff. Controlled and progressive induction of pressure overload in the LV was monitored by echocardiography. Endomyocardial biopsies were collected throughout the development of LV failure (LVF) and during the stage of recovery. RNA-seq data were analysed using the PANTHER database, Metascape, and DisGeNET to annotate the gene expression for functional ontologies. Echocardiography revealed distinct clinical differences between the progressive stages of hypertrophy, dilatation, and failure. A unique set of transcript expressions in each stage was identified, despite an overlap of gene expression. The removal of pressure overload allowed the LV to recover functionally. Compared to the control stage, there were a total of 256 genes significantly changed in their expression in failure, 210 genes in hypertrophy, and 73 genes in dilatation. Gene expression in the recovery stage was comparable with the control stage with a well-noted improvement in LV function. RNA-seq revealed the expression of genes in each stage that are not reported in cardiovascular pathology. We identified genes that may be potentially involved in the aetiology of progressive stages of HF, and that may provide future targets for its management.
- Published
- 2022
- Full Text
- View/download PDF
3. Transcatheter versus surgical valve replacement for a failed pulmonary homograft in the Ross population.
- Author
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Alassas K, Mohty D, Clavel MA, Husain A, Hijji T, Aljoufan M, Alhalees Z, and Fadel BM
- Subjects
- Adolescent, Adult, Allografts, Cardiac Catheterization adverse effects, Cardiac Catheterization mortality, Echocardiography, Doppler, Color, Female, Heart Valve Prosthesis Implantation adverse effects, Heart Valve Prosthesis Implantation mortality, Hemodynamics, Humans, Male, Prosthesis Design, Pulmonary Valve diagnostic imaging, Pulmonary Valve physiopathology, Pulmonary Valve Insufficiency diagnostic imaging, Pulmonary Valve Insufficiency mortality, Pulmonary Valve Insufficiency physiopathology, Recovery of Function, Reoperation, Retrospective Studies, Risk Factors, Time Factors, Treatment Outcome, Young Adult, Bioprosthesis, Cardiac Catheterization instrumentation, Cardiac Catheterization methods, Heart Valve Prosthesis, Heart Valve Prosthesis Implantation instrumentation, Heart Valve Prosthesis Implantation methods, Prosthesis Failure, Pulmonary Valve surgery, Pulmonary Valve Insufficiency surgery
- Abstract
Background: Patients who undergo the Ross procedure are at increased risk of pulmonary valve (PV) homograft dysfunction. For those who require reintervention on the homograft, transcatheter PV replacement (tPVR) provides a less invasive therapeutic option than surgical PVR (sPVR). We examined the outcomes following tPVR versus sPVR in a cohort of patients who underwent the Ross procedure., Methods: We performed a retrospective analysis of Ross patients age ≥14 years who underwent tPVR (n = 47) or sPVR (n = 41) at our institution. The patients' clinical and echocardiographic data were reviewed., Results: Baseline parameters, including demographic data and left ventricular and right ventricular (RV) systolic function, were similar in the 2 groups. The mean follow-up was 56 ± 24 months for the tPVR group and 89 ± 46 months for the sPVR group (P < .001). No procedure-related mortality was noted in either group. At 6-year follow-up, there was no significant between-group difference in event-free survival (tPVR, 79% ± 7% vs sPVR, 91% ± 4%; P = .15) or PV reintervention (tPVR, 26% ± 9% vs sPVR, 8% ± 5%; P = .31). PV-associated infective endocarditis (IE) was significantly more common with tPVR (tPVR, 13% vs sPVR, 0%; P = .04), with an annualized rate of 2.98% per patient-year. In addition, there was a trend toward more valve dysfunction following sPVR (sPVR, 67% ± 8% vs tPVR, 35% ± 8%; P = .08)., Conclusions: In Ross patients who require reintervention on the PV homograft, both tPVR and sPVR provide low procedural mortality and comparable midterm outcome with no significant difference in mortality or PV reintervention. However, IE is more common following tPVR. A larger randomized study is needed to determine the role of each procedure in patient management., (Copyright © 2017 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
4. Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
- Author
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Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, and Kaya N
- Abstract
Background: Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases ( n = 17) of the cohort using high density oligo arrays., Results: Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. The patients 1, 4 and 6 have only single large deletions throughout their genome; a 3.2 Mb deletion on chromosome 7, a 3.35 Mb deletion on chromosome 3, and a 2.78 Mb a deletion on chromosome 2, respectively. Patients 3 and 5 have two deletions on different chromosomes. Patient 3 has deletions on chromosome 2 (2q24.1; 249 kb) and 16 (16q22.2; 1.8 Mb). Patient 4 has a 3.35 Mb an interstitial deletion on chromosome 3 (3q13.2q13.31).Based on our search on the latest available literature, our study is the first inclusive array CGH evaluation on Saudi cohort of CHD patients., Conclusions: This study emphasizes the importance of the arrays in genetic diagnosis of CHD. Based on our results the high resolution arrays should be utilized as first-tier diagnostic tool in clinical care as suggested before by others. Moreover, previously evaluated negative CHD cases (based on standard karyotyping methods) should be re-examined by microarray based cytogenetic methods., Competing Interests: The patients were ascertained under Kind Faisal Specialist Hospital and Research Center’s institutionally approved IRB protocols (KFSHRC’s Research Advisory Council Committees including Basic Research Committee and Research Ethics Committee: RAC# 2040042, 2030046, 2120022, 2080032). Before the sample collection, the patients and/or parents (legal guardians) signed the written informed consents.Informed written consents were obtained from the patients. See ethics approval. Copy of the signed consent forms is available upon request.The 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
- Full Text
- View/download PDF
5. Grave aortic aneurysmal dilatation in DOCK8 deficiency.
- Author
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Al Mutairi M, Al-Mousa H, AlSaud B, Hawwari A, AlJoufan M, AlWesaibi A, AlHalees Z, and Al-Mayouf SM
- Subjects
- Aortic Aneurysm surgery, Child, Humans, Male, Treatment Outcome, Aortic Aneurysm complications, Guanine Nucleotide Exchange Factors deficiency, Job Syndrome complications
- Abstract
Hyperimmunoglobulin E syndrome (HIES) is a primary immunodeficiency disorder with multisystem abnormalities including the vascular system. We report a child with autosomal recessive (AR)-HIES secondary to dedicator of cytokinesis 8 (DOCK8) deficiency who developed critical aortic aneurysm involving the ascending aorta and aortic arch with narrowing of descending aorta that was successfully managed surgically. This report highlights the underrecognized and serious complication of DOCK8 deficiency that could contribute to significant morbidity and mortality in such patients.
- Published
- 2014
- Full Text
- View/download PDF
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