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1.
J Cardiothorac Surg ; 19(1): 71, 2024 Feb 07.
Article En | MEDLINE | ID: mdl-38326839

BACKGROUND: Supra aortic obstruction in children is uncommon and is seen in certain unique conditions. While intraluminal obstruction due to heavy calcification is seen in older populations, it is not described in pediatric populations. The coral reef aorta is a rare and distinct calcifying disease causing luminal obstruction of the suprarenal aorta in adults. The definition of this diagnosis relies entirely on the unique aspects and consistency of the lesions, which are rock-hard, irregular, gritty plaques with a white luminal surface resembling a coral reef. However, no such case has been described in children. CASE PRESENTATION: We present an adolescent boy who presented with a heavily calcified ascending aortic lesion associated with aortopathy and hypertension, 12 years after an aortic coarctation repair. The investigations included echocardiography, magnetic resonance and computer-tomographic imaging. A 3-D model was printed in order to visualize and plan surgical steps in advance for safe placement of clamps and defining the extent of resection. In addition, it provided an idea about tissue quality, thickness, spatial relationship, and orientation in relation to surrounding structures. Successful resection and replacement of the diseased segment of the aorta were achieved on cardiopulmonary bypass support. Post-operative recovery was uneventful, and at 6-month follow-up, the patient is doing well. In this report, various aspects of such lesions have been discussed, including clinical presentations, complications, planning and conduct of a safe cardiopulmonary bypass, and precautions during surgery for a successful outcome. CONCLUSION: Complicated obstructive aortic lesions in children require careful assessment, appropriate advanced imaging, and the use of 3-D printing technology in order to plan and perform safe and effective surgical management. The etiology of severe calcified aorta in children may be related to metabolic factors, previous surgery, use of a homograft, or an inflammatory process. However, it has yet to be proven.


Aortic Coarctation , Aortic Diseases , Adolescent , Humans , Male , Aorta, Abdominal/surgery , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Aorta, Thoracic/pathology , Aortic Coarctation/complications , Aortic Coarctation/diagnosis , Aortic Coarctation/surgery , Aortic Diseases/complications , Aortic Diseases/diagnosis , Aortic Diseases/surgery , Coral Reefs
2.
Cell Genom ; 4(1): 100465, 2024 Jan 10.
Article En | MEDLINE | ID: mdl-38190101

Genome-wide association studies (GWASs) have identified hundreds of risk loci for coronary artery disease (CAD). However, non-European populations are underrepresented in GWASs, and the causal gene-regulatory mechanisms of these risk loci during atherosclerosis remain unclear. We incorporated local ancestry and haplotypes to identify quantitative trait loci for expression (eQTLs) and splicing (sQTLs) in coronary arteries from 138 ancestrally diverse Americans. Of 2,132 eQTL-associated genes (eGenes), 47% were previously unreported in coronary artery; 19% exhibited cell-type-specific expression. Colocalization revealed subgroups of eGenes unique to CAD and blood pressure GWAS. Fine-mapping highlighted additional eGenes, including TBX20 and IL5. We also identified sQTLs for 1,690 genes, among which TOR1AIP1 and ULK3 sQTLs demonstrated the importance of evaluating splicing to accurately identify disease-relevant isoform expression. Our work provides a patient-derived coronary artery eQTL resource and exemplifies the need for diverse study populations and multifaceted approaches to characterize gene regulation in disease processes.


Coronary Vessels , Genome-Wide Association Study , Humans , Genetic Predisposition to Disease/genetics , Gene Expression Regulation , Quantitative Trait Loci/genetics
3.
Circ Res ; 132(9): 1144-1161, 2023 04 28.
Article En | MEDLINE | ID: mdl-37017084

BACKGROUND: Genome-wide association studies have identified hundreds of loci associated with common vascular diseases, such as coronary artery disease, myocardial infarction, and hypertension. However, the lack of mechanistic insights for many GWAS loci limits their translation into the clinic. Among these loci with unknown functions is UFL1-four-and-a-half LIM (LIN-11, Isl-1, MEC-3) domain 5 (FHL5; chr6q16.1), which reached genome-wide significance in a recent coronary artery disease/ myocardial infarction GWAS meta-analysis. UFL1-FHL5 is also associated with several vascular diseases, consistent with the widespread pleiotropy observed for GWAS loci. METHODS: We apply a multimodal approach leveraging statistical fine-mapping, epigenomic profiling, and ex vivo analysis of human coronary artery tissues to implicate FHL5 as the top candidate causal gene. We unravel the molecular mechanisms of the cross-phenotype genetic associations through in vitro functional analyses and epigenomic profiling experiments in coronary artery smooth muscle cells. RESULTS: We prioritized FHL5 as the top candidate causal gene at the UFL1-FHL5 locus through expression quantitative trait locus colocalization methods. FHL5 gene expression was enriched in the smooth muscle cells and pericyte population in human artery tissues with coexpression network analyses supporting a functional role in regulating smooth muscle cell contraction. Unexpectedly, under procalcifying conditions, FHL5 overexpression promoted vascular calcification and dysregulated processes related to extracellular matrix organization and calcium handling. Lastly, by mapping FHL5 binding sites and inferring FHL5 target gene function using artery tissue gene regulatory network analyses, we highlight regulatory interactions between FHL5 and downstream coronary artery disease/myocardial infarction loci, such as FOXL1 and FN1 that have roles in vascular remodeling. CONCLUSIONS: Taken together, these studies provide mechanistic insights into the pleiotropic genetic associations of UFL1-FHL5. We show that FHL5 mediates vascular disease risk through transcriptional regulation of downstream vascular remodeling gene programs. These transacting mechanisms may explain a portion of the heritable risk for complex vascular diseases.


Coronary Artery Disease , Hypertension , Myocardial Infarction , Humans , Coronary Artery Disease/genetics , Coronary Artery Disease/metabolism , Genome-Wide Association Study , Vascular Remodeling , Myocardial Infarction/metabolism , Hypertension/metabolism , Myocytes, Smooth Muscle/metabolism , Polymorphism, Single Nucleotide , Genetic Predisposition to Disease , Transcription Factors/metabolism , LIM Domain Proteins/genetics , LIM Domain Proteins/metabolism
4.
medRxiv ; 2023 Feb 14.
Article En | MEDLINE | ID: mdl-36824883

Genome-wide association studies (GWAS) have identified hundreds of genetic risk loci for coronary artery disease (CAD). However, non-European populations are underrepresented in GWAS and the causal gene-regulatory mechanisms of these risk loci during atherosclerosis remain unclear. We incorporated local ancestry and haplotype information to identify quantitative trait loci (QTL) for gene expression and splicing in coronary arteries obtained from 138 ancestrally diverse Americans. Of 2,132 eQTL-associated genes (eGenes), 47% were previously unreported in coronary arteries and 19% exhibited cell-type-specific expression. Colocalization analysis with GWAS identified subgroups of eGenes unique to CAD and blood pressure. Fine-mapping highlighted additional eGenes of interest, including TBX20 and IL5 . Splicing (s)QTLs for 1,690 genes were also identified, among which TOR1AIP1 and ULK3 sQTLs demonstrated the importance of evaluating splicing events to accurately identify disease-relevant gene expression. Our work provides the first human coronary artery eQTL resource from a patient sample and exemplifies the necessity of diverse study populations and multi-omic approaches to characterize gene regulation in critical disease processes.

5.
Circ Res ; 132(3): 323-338, 2023 02 03.
Article En | MEDLINE | ID: mdl-36597873

BACKGROUND: Coronary artery disease (CAD) is the leading cause of death worldwide. Recent meta-analyses of genome-wide association studies have identified over 175 loci associated with CAD. The majority of these loci are in noncoding regions and are predicted to regulate gene expression. Given that vascular smooth muscle cells (SMCs) play critical roles in the development and progression of CAD, we aimed to identify the subset of the CAD loci associated with the regulation of transcription in distinct SMC phenotypes. METHODS: We measured gene expression in SMCs isolated from the ascending aortas of 151 heart transplant donors of various genetic ancestries in quiescent or proliferative conditions and calculated the association of their expression and splicing with ~6.3 million imputed single-nucleotide polymorphism markers across the genome. RESULTS: We identified 4910 expression and 4412 splicing quantitative trait loci (sQTLs) representing regions of the genome associated with transcript abundance and splicing. A total of 3660 expression quantitative trait loci (eQTLs) had not been observed in the publicly available Genotype-Tissue Expression dataset. Further, 29 and 880 eQTLs were SMC-specific and sex-biased, respectively. We made these results available for public query on a user-friendly website. To identify the effector transcript(s) regulated by CAD loci, we used 4 distinct colocalization approaches. We identified 84 eQTL and 164 sQTL that colocalized with CAD loci, highlighting the importance of genetic regulation of mRNA splicing as a molecular mechanism for CAD genetic risk. Notably, 20% and 35% of the eQTLs were unique to quiescent or proliferative SMCs, respectively. One CAD locus colocalized with a sex-specific eQTL (TERF2IP), and another locus colocalized with SMC-specific eQTL (ALKBH8). The most significantly associated CAD locus, 9p21, was an sQTL for the long noncoding RNA CDKN2B-AS1, also known as ANRIL, in proliferative SMCs. CONCLUSIONS: Collectively, our results provide evidence for the molecular mechanisms of genetic susceptibility to CAD in distinct SMC phenotypes.


Coronary Artery Disease , Male , Female , Humans , Coronary Artery Disease/genetics , Coronary Artery Disease/metabolism , Genome-Wide Association Study/methods , Gene Expression Regulation , Quantitative Trait Loci , Genetic Predisposition to Disease , Gene Expression , Polymorphism, Single Nucleotide , AlkB Homolog 8, tRNA Methyltransferase/genetics , AlkB Homolog 8, tRNA Methyltransferase/metabolism
6.
Nat Cardiovasc Res ; 1(12): 1140-1155, 2022 Dec.
Article En | MEDLINE | ID: mdl-37920851

Histopathological studies have revealed key processes of atherosclerotic plaque thrombosis. However, the diversity and complexity of lesion types highlight the need for improved sub-phenotyping. Here we analyze the gene expression profiles of 654 advanced human carotid plaques. The unsupervised, transcriptome-driven clustering revealed five dominant plaque types. These plaque phenotypes were associated with clinical presentation and showed differences in cellular compositions. Validation in coronary segments showed that the molecular signature of these plaques was linked to coronary ischemia. One of the plaque types with the most severe clinical symptoms pointed to both inflammatory and fibrotic cell lineages. Further, we did a preliminary analysis of potential circulating biomarkers that mark the different plaques phenotypes. In conclusion, the definition of the plaque at risk for a thrombotic event can be fine-tuned by in-depth transcriptomic-based phenotyping. These differential plaque phenotypes prove clinically relevant for both carotid and coronary artery plaques and point to distinct underlying biology of symptomatic lesions.

7.
Eur Heart J ; 42(9): 919-933, 2021 03 01.
Article En | MEDLINE | ID: mdl-33532862

AIMS: While most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation. METHODS AND RESULTS: We carried out a genome-wide association study for MI in the UK Biobank (n∼472 000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167 000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were more robust for MI than for CAD without the presence of MI. Confirmatory evidence for association of a locus on chromosome 1p21.3 harbouring choline-like transporter 3 (SLC44A3) with MI in the context of CAD, but not with coronary atherosclerosis itself, was obtained in Biobank Japan (n∼165 000) and 16 independent angiography-based cohorts (n∼27 000). Follow-up analyses did not reveal association of the SLC44A3 locus with CAD risk factors, biomarkers of coagulation, other thrombotic diseases, or plasma levels of a broad array of metabolites, including choline, trimethylamine N-oxide, and betaine. However, aortic expression of SLC44A3 was increased in carriers of the MI risk allele at chromosome 1p21.3, increased in ischaemic (vs. non-diseased) coronary arteries, up-regulated in human aortic endothelial cells treated with interleukin-1ß (vs. vehicle), and associated with smooth muscle cell migration in vitro. CONCLUSIONS: A large-scale analysis comprising ∼831 000 subjects revealed novel genetic determinants of MI and implicated SLC44A3 in the pathophysiology of vulnerable plaques.


Coronary Artery Disease , Myocardial Infarction , Coronary Artery Disease/genetics , Endothelial Cells , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study , Humans , Japan , Myocardial Infarction/genetics , Polymorphism, Single Nucleotide/genetics , Risk Factors
8.
EuroIntervention ; 16(15): e1274-e1280, 2021 Feb 05.
Article En | MEDLINE | ID: mdl-31235456

AIMS: Aortic arch atresia (AAA) is one of the rarest obstructive defects. The presence of this anomaly in adult age is uncommon. The typical anatomic feature consists of a complete occlusion of the membranous obstruction resulting in an acquired atresia without flow continuity between the proximal and distal segments. This feature is important in determining the feasibility of percutaneous intervention. The aim of the present study was to share long-term follow-up data of adult patients with AAA requiring percutaneous interventions for the management of this rare anomaly involving five different centres. METHODS AND RESULTS: Retrospective data of 19 patients (12 males, 63.2%, mean age 32.2±18.9 years) diagnosed with AAA treated in five different centres between 1999 and 2017 were collected. All patients underwent percutaneous recanalisation by (1) radiofrequency (RF) system (five patients, 26.3%), (2) extra-stiff guidewire (12 patients, 63.2%), and (3) transseptal needle (two patients, 10.5%). All procedures were subsequently followed by covered stent implantation. Two patients developed complications during the procedure and one of them died. Over a median follow-up of 4.94 years, four (21%) patients were able to be weaned from medications for hypertension. All the patients underwent reassessment for recurrence or restenosis during the follow-up. Seven (36.8%) patients underwent successful stent dilatation with a balloon. After the intervention, one patient experienced a late complication; however, one patient died due to an unknown cause believed to be unrelated to the previous recanalisation procedure. CONCLUSIONS: Percutaneous treatment of AAA is feasible with good long-term survival. This study reports the largest case series so far available in the literature.


Aneurysm , Blood Vessel Prosthesis Implantation , Adolescent , Adult , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies , Stents , Treatment Outcome , Young Adult
9.
Article En | MEDLINE | ID: mdl-30838214

Atherosclerosis is a complex inflammatory disease of the vessel wall involving the interplay of multiple cell types including vascular smooth muscle cells, endothelial cells, and macrophages. Large-scale genome-wide association studies (GWAS) and the advancement of next generation sequencing technologies have rapidly expanded the number of long non-coding RNA (lncRNA) transcripts predicted to play critical roles in the pathogenesis of the disease. In this review, we highlight several lncRNAs whose functional role in atherosclerosis is well-documented through traditional biochemical approaches as well as those identified through RNA-sequencing and other high-throughput assays. We describe novel genomics approaches to study both evolutionarily conserved and divergent lncRNA functions and interactions with DNA, RNA, and proteins. We also highlight assays to resolve the complex spatial and temporal regulation of lncRNAs. Finally, we summarize the latest suite of computational tools designed to improve genomic and functional annotation of these transcripts in the human genome. Deep characterization of lncRNAs is fundamental to unravel coronary atherosclerosis and other cardiovascular diseases, as these regulatory molecules represent a new class of potential therapeutic targets and/or diagnostic markers to mitigate both genetic and environmental risk factors.

10.
J Cardiothorac Surg ; 11: 10, 2016 Jan 19.
Article En | MEDLINE | ID: mdl-26781635

BACKGROUND: Patients with functional aortic interruption of the descending thoracic aorta at the isthmus due to severe coarctation in association with atretic lumen are extremely rare in the adult population. The management is challenging and carries high morbidity and mortality. CASE PRESENTATION: We describe successful percutaneous reconstruction using a covered stent in a similar patient who is doing well two-years after intervention. A literature search was done to explore management strategies and their long-term outcomes for better understanding. CONCLUSIONS: This report is an attempt to highlight the role of minimal invasive approach in the management of rare, severe coarctation of the aorta in adult patients to avoid morbidity and mortality associated with more invasive procedures.


Aortic Coarctation/therapy , Cardiac Catheterization , Dilatation/instrumentation , Stents , Adult , Aortic Coarctation/diagnostic imaging , Dilatation/methods , Humans , Male , Radiography
11.
J Cardiothorac Surg ; 10: 38, 2015 Mar 22.
Article En | MEDLINE | ID: mdl-25887953

Primary cardiac tumours in paediatric population are an unusual occurrence. Although, majority of such tumours are benign (90%), the frequency and type of cardiac tumours in this age group is different from the adult population. There are several consecutive series published in the last decade on cardiac neoplasms. Therefore, this is not only an effort to contribute to the existing literature for better understanding and management of similar patients but also to highlight the importance of early detection either by prenatal imaging or careful evaluation of differential diagnosis of common symptoms. We herein, describe two infants with large cardiac tumours (fibroma and teratoma) both arising from the interventricular septum and underwent surgical excision. A possible role of cardiac remodeling in myocardial tissue healing after extensive tissue resection in such patients is hypothesised through available experimental or limited clinical information.


Fibroma/diagnosis , Heart Neoplasms/diagnosis , Teratoma/diagnosis , Diagnosis, Differential , Female , Fibroma/surgery , Heart Neoplasms/surgery , Heart Septum/diagnostic imaging , Heart Septum/pathology , Heart Septum/surgery , Humans , Infant , Male , Radiography , Teratoma/surgery , Ultrasonography
12.
Asia Pac J Ophthalmol (Phila) ; 3(2): 74-82, 2014.
Article En | MEDLINE | ID: mdl-26107489

PURPOSE: This study aimed to assess the capacity for ophthalmic education in the 8 South Asian Association for Regional Cooperation (SAARC) countries and to determine the need and future projections of eye health professionals in the region. DESIGN: This was a retrospective study and comprised desk review and Web-based questionnaire. METHODS: Developed in the Asia Pacific region, the Capacity Assessment Tool for SAARC Eye Care Education, a Web-based survey mechanism derived from a 12-point framework, was used to collect data on the number of ophthalmologists and other eye care personnel, training institutions, and capacity for training in each SAARC country. RESULTS: There are an estimated 17,568 practicing ophthalmologists and 4086 ophthalmic subspecialists in the SAARC region. The population per ophthalmologist is approximately 92,270. Allied eye health professionals constitute an important element of the eye health workforce and have a population per allied eye health professional of approximately 99,852; the ophthalmologist to doctor (physician) ratio is 1:61. There are more than 510 centers providing ophthalmology training and more than 32 centers providing subspecialty training; ophthalmic subspecialty training varies from a 3-month observership to a 12-month hands-on training. CONCLUSIONS: In the SAARC region, the challenge is to sustain and increase the eye health workforce to meet the needs of a growing and aging population. The demographic transitions, improved child survival and life expectancy rates, and emerging noncommunicable disease trends require training of ophthalmic subspecialists and supporting eye care teams to meet the service delivery demands of changing eye health paradigms.

13.
J Coll Physicians Surg Pak ; 20(5): 321-6, 2010 May.
Article En | MEDLINE | ID: mdl-20642925

OBJECTIVE: To identify and determine the frequency of the intra-operative and early postoperative complications of Conventional Scleral Buckling (CSB) as the primary surgical intervention in patients with Rhegmatogenous Retinal Detachment (RRD). STUDY DESIGN: A quasi-interventional study. PLACE AND DURATION OF STUDY: Khyber Institute of Ophthalmic Medical Sciences (KIOMS), Postgraduate Medical Institute (PGMI), Hayatabad Medial Complex (HMC), Peshawar, from April 2005 to June 2006. METHODOLOGY: Fifty consecutive patients who underwent CSB and fulfilled the inclusion criteria, were included in the study. Operative details and any intra-operative complications were noted. The patients underwent another detailed clinical examination and pain assessment on the first postoperative day. All the patients were followed-up minimum for 3 months. Postoperative complications were identified and recorded. The data was analyzed on SPSS 12.0 for measures of central tendency and dispersion. RESULTS: There were 36 male and 14 female subjects. Mean age was 37.18 + or - 20.045 years. Encirclement (56%) was the most frequently used CSB technique. Sixteen (32%) patients had at least one intra-operative complication. Intra-operative complications were iatrogenic scleral break (2%), accidental Sub Retinal Fluid (SRF) drainage (8%), choroidal haemorrhage (2%), subretinal haemorrhage (14%), retinal incarceration (2%), vitreous haemorrhage (6%), raised (4%) or very low (2%), intra-operative IOP and hyphema (2%). Postoperative complications included systemic complications (24%), choroidal detachment (8%), vitreous haemorrahge (16%), raised IOP (22%), angle closure (2%), conjunctivitis (4%), orbital cellulitis (2%), suspected endophthalmitis (2%), ocular movement disorders (2%) and explant exposure (6%). Mean refractive change in spherical equivalent was -1.478 + or - 0.698 D. Final re-attachment rate was (82%) and final BCVA of > 6/60 was achieved in 62% of the subjects in the treated eyes. CONCLUSION: CSB is a safe and effective option for treating uncomplicated RRD, but it is associated with certain complications. Sub-retinal bleed was the most common intra-operative complication. Raised IOP was most the common early postoperative complication followed by choroidal detachment.


Intraoperative Complications , Postoperative Complications , Retinal Detachment/surgery , Scleral Buckling/adverse effects , Adolescent , Adult , Female , Follow-Up Studies , Humans , Male , Middle Aged , Retinal Detachment/etiology , Retinal Detachment/pathology , Time Factors , Treatment Outcome , Young Adult
14.
Ophthalmic Epidemiol ; 16(1): 2-7, 2009.
Article En | MEDLINE | ID: mdl-19191175

PURPOSE: To identify children aged 0-72 months with blinding xerophthalmia in the North West Frontier Province (NWFP) and its adjoining Federally Administered Tribal Areas (FATA) in Pakistan, using a new surveillance system, and to describe socio-economic and other characteristics of reported cases. METHODS: All ophthalmologists in district headquarter hospitals in NWFP and agency headquarter hospitals in FATA were requested to participate in a surveillance programme for the detection of blinding xerophthalmia (corneal xerosis, corneal ulcers, keratomalacia and corneal scars related to vitamin A deficiency) for children aged 0-72 months. The surveillance included reporting of each case of blinding xerophthalmia presenting to the participating eye units over a period of 12 months and recording their socio-economic and other related characteristics. RESULTS: Seventy six cases of blinding xerophthalmia were reported and there was almost no gender difference. Children came from 19 of 31 districts and agencies in NWFP and FATA with a working ophthalmologist. The commonest age at presentation was 25-48 months and almost half of them belonged to households with a monthly income of < Pak Rs. 1200 (US $ < 20). Precipitating systemic illnesses were diarrhea and fever with cough in 63.2% and 56.6% cases, respectively. Almost a third of children aged > 9 months had not been immunized against measles. A quarter of all children had not been adequately breast-fed, and 7 children (9%) had never been breastfed. Majority of the cases presented during summer and autumn months. CONCLUSIONS: Our surveillance data provide evidence that blinding xerophthalmia does occur in children in NWFP and its adjoining FATA. The surveillance system identified high risk age groups, systemic illnesses, seasons and community groups. The detection system detects minimal numbers of cases and it is likely that the problem is even more severe.


Blindness/ethnology , Vitamin A Deficiency/ethnology , Xerophthalmia/ethnology , Age Distribution , Child , Child, Preschool , Female , Humans , Incidence , Infant , Male , Pakistan/epidemiology , Seasons , Sex Distribution
15.
J Coll Physicians Surg Pak ; 19(1): 39-42, 2009 Jan.
Article En | MEDLINE | ID: mdl-19149979

OBJECTIVE: To estimate the frequency and major risk factors of preseptal and orbital cellulitis. STUDY DESIGN: A cross-sectional analytical study. PLACE AND DURATION OF STUDY: The Khyber Institute of Ophthalmic Medical Sciences, Hayatabad Medical Complex, Peshawar from July 2003 to December 2006. METHODOLOGY: All consecutive patients between ages 6 and 40 years, admitted to the institute with the diagnosis of preseptal and orbital cellulitis were included in the study. The patients were divided into two groups. Group I included patients with ages 6-16 years and group II with ages 17-40 years. The clinical features, diagnosis and risk factors were entered on a specially-designed proforma. The risk factors included were trauma, insect bite, localized or systemic infection and postsurgical. Odd ratio and p-values were calculated for potential risk factors. RESULTS: The frequency of orbital cellulitis was 0.1% of total admission. Out of 26 patients, 42.30% patients were in group I and 57 in group II. In group I, insect bite was the most common risk factor identified in 40% of patients with preseptal cellulitis and trauma as a common cause in 50% with orbital cellulitis. In group II, trauma was the leading cause in 50% of patients with preseptal cellulitis and sinusitis as a common cause in 18.1% with those of orbital cellulitis. In both groups the p-values were found insignificant (p>0.5). Complications included cicatricial ectropion in 44.4% and orbital abscess in 41.1%. CONCLUSION: For preseptal cellulitis, insect bite was the most common cause in group I and trauma was the leading cause in group II. For orbital cellulitis, trauma was important cause in group I and sinusitis in group II.


Eye Diseases/etiology , Orbital Cellulitis/etiology , Abscess/complications , Adolescent , Adult , Anti-Bacterial Agents/therapeutic use , Cellulitis/diagnostic imaging , Cellulitis/drug therapy , Cellulitis/etiology , Child , Cross-Sectional Studies , Drug Combinations , Eye Diseases/diagnostic imaging , Female , Hospitals, Special , Humans , Insect Bites and Stings/complications , Male , Odds Ratio , Orbital Cellulitis/diagnostic imaging , Orbital Cellulitis/drug therapy , Orbital Cellulitis/epidemiology , Pakistan/epidemiology , Risk Factors , Tomography, X-Ray Computed , Treatment Outcome , Young Adult
16.
J Coll Physicians Surg Pak ; 17(11): 679-82, 2007 Nov.
Article En | MEDLINE | ID: mdl-18070576

OBJECTIVE: To determine the frequency and causes of bilateral ocular trauma. DESIGN: A descriptive case series. PLACE AND DURATION OF STUDY: Khyber Institute of Ophthalmic Medical Sciences, Hayatabad Medical Complex, Peshawar from October 1999 to September 2006. PATIENTS AND METHODS: All patients coming to the hospital with bilateral eye trauma and requiring admission were recruited into the study. The details of patients' demographics, risk factors, ocular examination, treatment offered and final visual acuity were noted and described as frequency and percentages. RESULTS: Out of a total of 1551 patients of hospitalized ocular trauma, 46 (2.9%, 92 eyes) had bilateral ocular trauma. The majority (54.3%) were due to landmine blast injuries followed by dynamite blast in 10.8%, coalmine blast and firearm injury in 6.5% each. Pressure cooker explosion and road traffic accident was the cause in 4.3% each. Gas cylinder and automobile battery explosion, alkali and acid burn, assault and incidental trauma occurred in 2.1%. Sixty three percent were between 16 and 40 years of age. Males were affected in 93.4%. Corneal and / or scleral repair was done in 58.6%, conjunctival and or corneal foreign body removal in 26% and extracapular cataract extraction with intraocular lens implantation in 16.3%. The visual acuity was in the range of 6/60 and perception of light in 54.3%, while in 21.7%, there was no perception of light at the time of admission. Due to severity of injury, the final visual acuity was poor and only 28.2% regained vision between 6/18 and 6/60. CONCLUSION: In this series, landmine, dynamite and coalmine blasts were the major causes of bilateral ocular trauma. Victims were usually young males. Due to severity of ocular trauma, majority had poor visual outcome.

17.
Ophthalmic Epidemiol ; 14(6): 381-9, 2007.
Article En | MEDLINE | ID: mdl-18161612

PURPOSE: To investigate the prevalence and risk factors for lens opacity (LO) amongst a nationally representative sample of the adult population of Pakistan. METHODS: This national study of blindness and visual impairment (adults > or =30 years) used multistage, stratified, cluster random sampling. Grading of LO was conducted using the Mehra/Minassian classification system. LO, partly or wholly obscuring the red reflex, or previous cataract surgery were indicators of opacity. RESULTS: 16,402 (94.7%) adults were included in this analysis (study conducted 2002-2003). A total of 4,096 (standardized prevalence 20.9%, 95%CI: 20.3, 21.5%) adults were found to have LO. The highest prevalence of LO was found in Punjab province (22.2%), the lowest in Balochistan Province (18.0%). Significant positive associations were increasing age (multivariable odds ratio (OR) 3.2: 95%CI: 3.1, 3.4), hypertension (OR 1.2, 95%CI: 1.1, 1.3), history of diabetes (OR 2.6: 95%CI 2.0, 3.2) and smoking (OR 1.3: 95%CI: 1.1, 1.5). Higher body mass index (BMI) (OR 0.8: 95%CI 0.7, 0.9, heavy vs. normal BMI) and attendance to school (OR 0.6: 95%CI: 0.5, 0.8) were associated with lower risk of LO. Individuals in districts classified as hot were at significantly increased risk (OR 1.3: 95%CI: 1.1, 1.5), and those in wet districts (> 600 mm annual rainfall) had lower odds than individuals living in dry districts (OR 0.7: 95%CI: 0.6, 0.8). CONCLUSIONS: Almost a fifth of the adult population had LO. Significant positive associations were age, smoking status, hypertension, diabetes, and increased deprivation level. Protective factors included high BMI and educational achievement. The climatic associations offer novel hypothesis for further research into cataractogenesis.


Cataract/epidemiology , Adult , Age Factors , Aged , Cataract/etiology , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Odds Ratio , Pakistan/epidemiology , Prevalence , Retrospective Studies , Risk Assessment , Risk Factors
19.
J Coll Physicians Surg Pak ; 17(6): 344-6, 2007 Jun.
Article En | MEDLINE | ID: mdl-17623583

OBJECTIVE: To describe the pattern of ocular surface squamous neoplasia (OSSN), clinical presentations, the risk factors and treatment options. DESIGN: An observational case series. PLACE AND DURATION OF STUDY: Khyber Institute of Ophthalmic Medical Sciences, Hayatabad Medical Complex, Peshawar, from April 2003 till August 2006. PATIENTS AND METHODS: The study included 36 eyes of 35 patients with biopsy-proven ocular surface neoplasia. The details of patients regarding age, gender, laterality and risk factors were entered into a specially-designed proforma. Each patient was also assessed biomicroscopically for type and complications of ocular surface neoplasia. RESULTS: The frequency of OSSN was 0.37 among admitted hospital patients. Among 36 cases of OSSN, squamous cell carcinoma of the conjunctiva was the most common type of OSSN seen in 63.9%, followed by carcinoma in situ of conjunctiva in 25% and carcinoma in situ of cornea in 11.1%. Male patients outnumbered female (65.7% vs 34.3%) with 71.42% of patients above 60 years of age. The risk factors identified were: old age, ultraviolet B exposure and xeroderma pigmentosa. Treatment consisted of local resection with or without adjuvant therapy in 61.1%, exenteration in 30.5%, enucleation in 5.5% and chemo/radiotherapy in 2.7%. Intraocular invasion was seen in 5.5% and orbital spread in 30.5%. CONCLUSION: The frequency of OSSN was 0.37% among admitted patients. Identification of exact etiological factors will enable to formulate strategies that are likely to decrease the incidence of this disease and the associated morbidity and mortality.


Carcinoma, Squamous Cell , Conjunctival Neoplasms , Cornea/pathology , Uveal Neoplasms/epidemiology , Biopsy , Carcinoma, Squamous Cell/epidemiology , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/therapy , Combined Modality Therapy/methods , Conjunctival Neoplasms/epidemiology , Conjunctival Neoplasms/pathology , Conjunctival Neoplasms/therapy , Female , Follow-Up Studies , Humans , Incidence , Male , Middle Aged , Pakistan/epidemiology , Prognosis , Retrospective Studies , Uveal Neoplasms/pathology
20.
J Coll Physicians Surg Pak ; 17(3): 148-53, 2007 Mar.
Article En | MEDLINE | ID: mdl-17374300

OBJECTIVE: To describe the patterns of ocular trauma, cause of injury and its effects on eye. DESIGN: A retrospective case series. PLACE AND DURATION OF STUDY: Khyber Institute of Ophthalmic Medical Sciences, Hayatabad Medical Complex, Peshawar, from January 1999 to June 2004. PATIENTS AND METHODS: Medical records of 1105 patients admitted with ocular trauma were reviewed. The details of patients regarding age, gender, literacy, cause of injury and its effects on eye were entered into specially-designed performa. Sample selection consisted of all patients with history of ocular trauma and who were admitted to hospital. Population details consisted patients who were referred to the hospital from all parts of N.W.F.P. Thus, the frequency of trauma in the hospital admissions was analysed. RESULTS: Ophthalmic trauma comprised 6.78% of the hospital admission. One thousand one hundred and five patients presented with eye injuries. Out of them, 21 patients suffered from trauma to both eyes. Almost 80% patients were male and 69% patients were below 30 years of age. Delayed presentation was more common and 63.61% patients presented after one week. Open globe injuries were more common [520 eyes (46.18%)] than closed globe injuries [484 eyes (42.98%)]. 23.26% of open globe injuries were associated with intraocular and intra-orbital foreign bodies. Superficial non-perforating, eyelid and adnexal and burns were seen in 122 eyes (10.83%). Among the complications, lens damage and hyphema was seen in more than 50% of the patients, 16.60% eyes were infected at the time of admission and 4.88% of eyes needed enucleation or evisceration. The common causes of injury were violence in 37.37%, occupational in 24.43% and domestic accidents in 19.18%. CONCLUSION: Ophthalmic trauma is a major public health problem. Majority of the involved are male and under 30 years of age. Delayed presentation is more common. Open globe injuries are more frequent. Violence and occupational injuries are the major causes.


Eye Injuries , Adolescent , Adult , Eye Injuries/complications , Eye Injuries/epidemiology , Eye Injuries/pathology , Female , Humans , Male , Pakistan/epidemiology
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