scholarly journals Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Takaaki Hayashi ◽  
Shuhei Kameya ◽  
Kei Mizobuchi ◽  
Daiki Kubota ◽  
Sachiko Kikuchi ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Survival Curve ◽  
Japanese Patients ◽  
Outcome Data ◽  
High Rate ◽  
Exon 2 ◽  
Pathogenic Variants ◽  
Kaplan Meier ◽  
Whole Exome

Abstract Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5–76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was significantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan–Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the fifties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identified in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants.

Twenty-year outcomes in patients with newly diagnosed glaucoma: mortality and visual function

2018 ◽  
Vol 102 (12) ◽  
pp. 1663-1666
Author(s):  
Christopher King ◽  
Justin C Sherwin ◽  
Gokulan Ratnarajan ◽  
John F Salmon
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Open Angle Glaucoma ◽  
Survival Curve ◽  
Visual Outcome ◽  
Field Analysis ◽  
Time To Death ◽  
Kaplan Meier ◽  
Two Stages

Background/aimsTo determine the mortality within 20 years of diagnosis of chronic open-angle glaucoma (COAG) and visual acuity and visual field progression of a cohort followed for 20 years.MethodsTwenty years following the diagnosis of COAG in 68 of 436 (16%) patients seen in a glaucoma case-finding clinic, visual and mortality outcomes were audited from medical records. Causes of death were obtained from general practitioner records and death certificates. Probability of death was calculated using a Kaplan-Meier survival curve. The visual field of each eye of survivors was graded using a nine-stage severity scale. Visual outcome was analysed at the 20-year follow-up visit.ResultsFrom 68, 14 (21%) were lost to follow-up. In the remaining 54, 20 (37%) were alive 20 years after diagnosis. Of 63% who died, mean age of death was 84 years, most commonly due to vascular disease. Mean age at presentation of those who died was 73.7 years versus 63.2 years for survivors (P=0.001). The median time to death was 16 years. On visual field analysis, nearly half (48.9%) of eyes did not deteriorate, but 28.3% eyes deteriorated by more than two stages. Those who died had worse final visual acuity than survivors (P<0.001). Three who died were registered severely visually impaired mainly from macular disease, but no survivors were registered (P<0.001).ConclusionIn this cohort, approximately two-thirds of patients with glaucoma died within 20 years of diagnosis. In most older patients with glaucoma, the overall goal of preventing visual handicap and blindness is achievable 20 years after diagnosis.

Outcomes after Emergency Admission with a Diabetic Foot Attack Indicate a High Rate of Healing and Limb Salvage But Increased Mortality: 18-Month Follow-up Study

2020 ◽  
Author(s):  
Erika Vainieri ◽  
Raju Ahluwalia ◽  
Hani Slim ◽  
Daina Walton ◽  
Chris Manu ◽  
...  
Keyword(s):  
Limb Salvage ◽  
Diabetic Foot ◽  
Emergency Admission ◽  
Arterial Disease ◽  
Major Amputation ◽  
Outcome Data ◽  
High Rate ◽  
Free Survival ◽  
Peripheral Arterial

Abstract Aim The diabetic foot attack (DFA) is perhaps the most devastating form of diabetic foot infection, presenting with rapidly progressive skin and tissue necrosis, threatening both limb and life. However, clinical outcome data in this specific group of patients are not available. Methods Analysis of 106 consecutive patients who underwent emergency hospitalisation for DFA (TEXAS Grade 3B or 3D and Infectious Diseases Society of America (IDSA) Class 4 criteria). Outcomes evaluated were: 1) Healing 2) major amputation 3) death 4) not healed. The first outcome reached in one of these four categories over the follow-up period (18.4±3.6 months) was considered. We also estimated amputation free survival. Results Overall, 57.5% (n=61) healed, 5.6% (n=6) underwent major amputation, 23.5% (n=25) died without healing and 13.2% (n=14) were alive without healing. Predictive factors associated with outcomes were: Healing (age<60, p=0.0017; no Peripheral arterial disease (PAD) p= 0.002; not on dialysis p=0.006); major amputation (CRP>100 mg/L, p=0.001; gram+ve organisms, p=0.0013; dialysis, p= 0.001), and for death (age>60, p= 0.0001; gram+ve organisms p=0.004; presence of PAD, p=0.0032; CRP, p=0.034). The major amputation free survival was 71% during the first 12 months from admission, however it had reduced to 55.4% by the end of the follow-up period. Conclusions In a unique population of hospitalised individuals with DFA, we report excellent healing and limb salvage rates using a dedicated protocol in a multidisciplinary setting. An additional novel finding was the concerning observation that such an admission was associated with high 18-month mortality, almost all of which was after discharge from hospital.

scholarly journals Factors Predisposing to Amblyopia After Exotropia Surgery

2021 ◽  
Author(s):  
Qader Motarjemizadeh ◽  
Naser Samadi Aidenloo
Keyword(s):  
Visual Acuity ◽  
Significant Contribution ◽  
Strabismus Surgery ◽  
High Rate ◽  
Deviation Angle ◽  
Age At Surgery ◽  
Determining Factors ◽  
Lazy Eye ◽  
Cox Hazard Model

Amblyopia (lazy eye) is one of the significant complications of strabismus surgery. It is the most important cause of unilateral visual impairment in both children and adults. The current investigation was achieved to determine the postoperative amblyopia rate and to identify factors predisposing to amblyopia following exotropia surgery among patients who had been referred to Imam Khomeini Hospital in Urmia, Iran. The present investigation is a retrospective study that was conducted over three years (2008-2010). The study consisted of sixty patients who underwent their first strabismus surgery for treatment of horizontal deviation. Patients were followed up for at least 24 months, and the rate of postoperative amblyopia was measured. The preoperative deviation, strabismus type (exotropia vs. esotropia), visual acuity, age at surgery , and the number of operated muscles were analyzed as determining factors of postoperative development of amblyopia. Amblyopia was observed in 50% of cases during the follow-up period. No statistically significant differences were observed between amblyopic and non-amblyopic eyes in terms of sex, age at surgery, strabismus type, and visual acuity. But amblyopic eyes showed higher deviation angles compared to nonamblyopic eyes (<0.001). The Cox hazard model analysis revealed a significant contribution of deviation angle to postoperative development of amblyopia. A larger deviation angle has been identified as a positive predictor of postoperative development of amblyopia in our investigated population. Due to such a high rate of postoperative amblyopia, it seems better to initiate and complete amblyopia therapy before strabismus surgery.

The Incidence Prognosis and Risk Factors of Cognitive Impairment in Maintenance Haemodialysis Patients

2018 ◽  
Vol 47 (1-3) ◽  
pp. 101-108 ◽  
Author(s):  
Renhua Lu ◽  
Chenqi Xu ◽  
Yan Li ◽  
Ling Yu ◽  
Xinghua Shao ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cognitive Impairment ◽  
Diastolic Pressure ◽  
Survival Curve ◽  
Maintenance Haemodialysis ◽  
Kaplan Meier ◽  
Education Status ◽  
Independent Risk Factors ◽  
Meier Survival Curve

Objective: To investigate the incidence and the prognosis of cognitive impairment (CI) and to find out the risk factors associated with the outcome in maintenance haemodialysis (MHD) patients. Methods: Enrolled the patients who met the criteria as below: MHD (≥3 months) patients before July 2014, ≥18 years old and could carry on the cognitive function test (Montreal Cognitive Assessment [MoCA]). All enrolled patients were divided into 2 groups: CI group (MoCA < 26) and non-CI group (MoCA ≥26). All patients were followed up for 36 months. The incidence, demography data, medical history, haemodialysis data, laboratory examination and prognosis of CI in haemodialysis patients were prospectively compared and analyzed. Multivariate logistic regression analysis was used to investigate the risk factors of CI. Kaplan-Meier survival curve was used for survival analysis. Results: In the present study, 219 patients were enrolled. The ratio of male to female was 1.46: 1. Age was 60.07 ± 12.44 and dialysis vintage was 100.79 ± 70.23 months. One hundred thirteen patients’ MoCA scores were lower than 26 were divided into CI group. Education status (OR 3.428), post-dialysis diastolic pressure (OR 2.234) and spKt/V (OR 1.982) were independent risk factors for CI in MHD patients. During the follow-up period, 15 patients died (13.2%) in the CI group and 5 died (4.72%) in the non-CI group (p < 0.05). The Kaplan-Meier survival curve analysis showed that the survival rate of patients with CI was lower than that of non-CI group in MHD patients during 3 years follow-up (p = 0.046). Conclusion: CI is one of the most common complications in MHD patients. The mortality is high in patients who had CI. Education status, post-dialysis diastolic pressure and spKt/V are independent risk factors for CI in MHD patients.

Abstract 14845: Masquerading Bundle Branch Block: An Electrocardiographic Marker of Poor Prognosis

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Thiago G Schroder e Souza ◽  
Rômulo L Almeida ◽  
Gabriel P Targueta ◽  
Sandro P Felicioni ◽  
Virginia B Cerutti Pinto ◽  
...  
Keyword(s):  
Poor Prognosis ◽  
Survival Curve ◽  
Pacemaker Implantation ◽  
Epidemiological Data ◽  
Cardiac Conduction ◽  
Conduction Delay ◽  
S Wave ◽  
Bundle Branch Block ◽  
Kaplan Meier

Introduction: Masquerading bundle branch block (MBBB) is a rare cardiac conduction anomaly characterized in the Electrocardiogram (EKG) by Right Bundle Branch Block in the precordial leads and Left Bundle Branch Block in frontal leads. The available evidence indicates that it carries poor prognosis and that it is often underdiagnosed. We studied epidemiological peculiarities, electrocardiographic features and prognosis of this rare kind of ventricular conduction delay. Methods: In a review of over 600,000 EKGs from the database of Tele-Electrocardiography department of Dante Pazzanese Institute of Cardiology during the last seven years, we found twenty-five cases of MBBB. Diagnostic criteria were presence of QRS ≥ 0.12 s, dominant positive waves in V1, left axis deviation and absent or minimal S wave in DI and aVL. Epidemiological data was collected for each EKG and the follow-up of patient′s health status was assessed by telephone contact. Kaplan-Meier survival curves were based on the following endpoints: mortality, pacemaker implantation and the composite of both. Results: We identified twenty-five cases (21 males and 4 females) of MBBB. The average age was 69 (±14) years. Sinus rhythm was present in 17 patients (68%), atrial fibrillation in 7 (28%) and atrial flutter in one (4%). Average heart rate, PR interval, QRS length, QTc and QRS axis were, respectively: 70 (±17) bpm, 205 (±50) ms, 159 (±24) ms, 463 (±37) ms and -76° (±6) degrees. Follow-up data was successfully obtained from 15 patients: 4 (26.6%) had a pacemaker implanted, 7 (46.6%) died and 9 had combined endpoints (60%). According to the Kaplan-Meier survival curve, at 48 months, the estimated ratios of death, pacemaker implantation or combined endpoints were 41.4%, 38.9% and 80.2%, respectively. Conclusions: MBBB represents a high-risk condition and, although rare, this EKG pattern should be taken into consideration due to the poor prognosis associated with its presence.

Whole‐Exome Sequencing of a Saudi Epilepsy Cohort Reveals Association Signals in Known and Potentially Novel Loci

2021 ◽  
Author(s):  
Amein Kadhem AlAli ◽  
Abdulrahman Al-Enazi ◽  
Ahmed Ammar ◽  
Mahmoud Hajj ◽  
Cyril Cyrus ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Rare Variants ◽  
High Rate ◽  
Variants Of Unknown Significance ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Novel Variants ◽  
Unknown Significance ◽  
Rare Genetic Variants

Abstract Background Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian Epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity amongst large tribal pedigrees. Results We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known Epilepsy related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline based variant prioritization approach in an attempt to discover putative causative variants. We identified a 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi Epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity were observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed. Conclusion Several putative pathogenic variants known to be epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci have been identified which may be prioritized for further investigation.

Cataract extraction in patients with primary congenital glaucoma

2019 ◽  
Vol 30 (3) ◽  
pp. 525-532
Author(s):  
Laura Morales-Fernández ◽  
José María Martínez-de-la-Casa ◽  
Blanca Benito-Pascual ◽  
Federico Saénz-Francés ◽  
Enrique Santos-Bueso ◽  
...  
Keyword(s):  
Risk Factors ◽  
Visual Acuity ◽  
Intraocular Pressure ◽  
Cataract Extraction ◽  
Hazard Ratio ◽  
High Rate ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Corneal Decompensation

Objective: To assess incidence and risk factors of cataract extraction in patients with primary congenital glaucoma, surgical outcome, and complications. Material and method: Retrospective cohort study, in which 108 patients with primary congenital glaucoma were included. Data collected were need for cataract extraction and at what age, intraocular pressure at diagnosis of primary congenital glaucoma, required antiglaucomatous surgeries, possible mutation in the CYP1B1 gene, and final visual acuity. Among the patients who required cataract extraction were visual acuity, intraocular pressure, and complications, evaluated preoperatively and postoperatively. The data were analysed with STATA. Results: A total of 198 eyes of 108 patients were included, with a median follow-up of 8 years (range: 5–53). In all, 32 eyes (16.2%) of 24 patients (22%) required cataract extraction. The median age for cataract extraction was 12.94 years (interquartile range: 2.42–22). The main identified risk factors associated with cataract extraction were antiglaucomatous surgeries (hazard ratio 1.48, p < 0.001) and valvular implant (hazard ratio 2.78, p < 0.001). Lens was implanted in 30/32 eyes and the main complications were intraocular pressure decontrol ( n = 13), capsular fibrosis ( n = 7), corneal decompensation ( n = 4), lens subluxation ( n = 4), and endophthalmitis ( n = 1). Visual acuity improvement was observed after cataract extraction in 66.67% of eyes. Conclusions: There is a high incidence of cataract surgery in patients with primary congenital glaucoma, but generally outside of pediatric age. A greater risk of cataract extraction was identified in those patients with a greater number of antiglaucomatous surgeries, especially after valvular implantation. Despite the high rate of complications related to cataract extraction in primary congenital glaucoma, good visual improvement was observed after surgery.

Long-term functional outcomes of different subtypes of primary congenital glaucoma

2019 ◽  
pp. bjophthalmol-2019-315131 ◽  
Author(s):  
Richard Sher Chaudhary ◽  
Amisha Gupta ◽  
Ajay Sharma ◽  
Shikha Gupta ◽  
Rayees Ahmad Sofi ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Congenital Glaucoma ◽  
Cumulative Probability ◽  
Primary Congenital Glaucoma ◽  
Visual Outcomes ◽  
Post Surgery ◽  
Kaplan Meier ◽  
Significant Difference

AimTo analyse long-term visual outcomes across different subtypes of primary congenital glaucoma (PCG).MethodsPatients with PCG with a minimum of 5-year follow-up post surgery were included in the study. Snellen visual acuity recordings taken at their last follow-up were analysed. We evaluated the results using Kaplan-Meier curves to predict the probability of maintaining good vision (as defined by a visual acuity of 6/18 or better) in our patients after 30-year follow-up. The results were also analysed to determine whether there were any differences in the long-term visual acuities with time between the neonatal and infantile PCG. We also analysed the reasons for poor visual outcomes.ResultsWe assessed a cohort of 140 patients with PCG (235 eyes) with an average follow-up of 127±62.8 months (range 60–400 months). Overall, the proportion of eyes with good visual acuity was 89 (37.9%), those with fair visual acuity between 6/60 and 6/18 was 41 (17.4%), and those with poor visual acuity (≤6/60) was 105 (44.7%). We found a significant difference (p=0.047) between neonatal and infantile patients with PCG whereby the neonatal cohort fared worse off in terms of visual morbidity. On Kaplan-Meier analysis, the cumulative probability of survival of a visual acuity of 6/18 or better was more among the infantile PCG in comparison to the neonatal PCG (p=0.039) eyes, and more among the bilateral than the unilateral affected eyes (p=0.029). Amblyopia was the most important cause for poor visual acuity as shown on a Cox proportional-hazards regression model .ConclusionsLong-term visual outcomes of infantile are better than neonatal PCG. Eyes with unilateral have worse visual outcomes compared with those with bilateral PCG because of the development of dense amblyopia.

P1031The impact of the duration of atrial fibrillation persistence for arrhythmia free survival in patients undergoing catheter ablation

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
Y Furukawa ◽  
T Yamada ◽  
T Morita ◽  
S Tamaki ◽  
M Kawasaki ◽  
...  
Keyword(s):  
Catheter Ablation ◽  
Outcome Data ◽  
Free Survival ◽  
Group 4 ◽  
Kaplan Meier ◽  
Group 3 ◽  
Group 2 ◽  
Af Recurrence ◽  
Group 1

Abstract Background Catheter ablation (CA) for atrial fibrillation (AF) is a curable treatment option. However, AF recurrence after CA remains an important problem. Although the success rate has been improved after catheter ablation (CA) in patients with paroxysmal AF (PAF), outcome data after CA for persistent AF (PeAF) are highly variable. Previous studies showed the PeAF is one of independent predictors for AF recurrence in comparison to PAF. However, there are little information available on the prognostic significance of AF duration after CA for AF. The aim of this study is to evaluate the impact of AF duration on long-term outcomes of AF ablation in patients with PeAF compared with PAF. Methods We enrolled 778 consecutive patients, who were referred our institution between August 2015 and December 2017 for undergoing the first time CA for AF. We divided 5 groups (Group 1; PAF (n=442), Group 2; PeAF duration ≤6 months (n=198), Group 3; PeAF duration of 6 months to 2 years (n=87), Group 4; PeAF duration of 2–5 years (n=30) and Group 5; PeAF duration ≥5 years (n=21)). All patients followed up for at least 1 year. Outcome data on recurrence of AF after ablation were collected. Results There were no significant differences in baseline clinical characteristics before CA among 5 groups, except for the prevalence of congestive heart failure, left atrial diameter and left ventricular ejection fraction. During a mean follow-up period of 511±298 days, 217 patients had AF recurrence. Kaplan-Meier analysis revealed that AF recurrence was significantly higher in group 2 compared to group 1 (31% vs 20%, p=0.002) and in group 4 compared to group 3 (83% vs 30%, p<0.0001). However, AF recurrence was no significantly differences between groups 2 and 3 (31% vs 30%, p=0.76) and between groups 4 and 5 (83% vs 81%, p=0.45). Of 217 patients with AF recurrence, 154 patients had undergone multiple procedures. After last procedures, during a mean follow-up period of 546±279 days, 61 patients had AF recurrence. Kaplan-Meier analysis revealed that AF recurrence was significantly higher in group 2 compared to group 1 (10% vs 3%, P=0.0005) and in group 4 compared with group 3 (35% vs 10%, p=0.0001). However, AF recurrence was no significantly difference between groups 2 and 3 (10% vs 10%, p=0.91) and between groups 4 and 5 (47% vs 35%, p=0.47). AF Free Survival Curve Conclusion Although patients with PeAF within 2 years had significantly higher AF recurrence compared to PAF, AF ablation might still be a good contributor as the first line approach to improve outcomes in patient with PeAF within 2 years.

UK trial of the Osseointegrated Prosthesis for the Rehabilitation for Amputees: 1995–2018

2018 ◽  
Vol 43 (1) ◽  
pp. 112-122 ◽  
Author(s):  
Douglas John Matthews ◽  
Mateen Arastu ◽  
Maggie Uden ◽  
John Paul Sullivan ◽  
Kristina Bolsakova ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Short Form ◽  
Deep Infection ◽  
Outcome Data ◽  
Superficial Infection ◽  
Kaplan Meier ◽  
The Uk ◽  
Implant System

Background: Amputation of a limb impacts on patients’ self-perception and quality of life. Prostheses directly anchored to the skeleton are being investigated, aiming to avoid soft tissue complications. Objectives: We report outcome data for the UK trial of the Osseointegrated Prosthesis for the Rehabilitation of Amputees Implant System with a minimum of 9-year follow-up. Methods: Eighteen transfemoral amputees received unilateral implants between 1997 and 2008. Five were implanted before a formalised protocol, called Osseointegrated Prosthesis for the Rehabilitation of Amputees, was developed. Mean follow-up of the Pre-Osseointegrated Prosthesis for the Rehabilitation of Amputees group is 11.4 years (1.8–18.6 years), while for the Post-Osseointegrated Prosthesis for the Rehabilitation of Amputees group it is 12.3 years (2.9–15.9). Results: The Kaplan–Meier cumulative survivorship is 40% for the Pre-Osseointegrated Prosthesis for the Rehabilitation of Amputees group and 80.21% for the Post-Osseointegrated Prosthesis for the Rehabilitation of Amputees group. Five implants (28%) have been removed, three (17%) for deep infection, one (5.6%) for chronic pain, later proven to be infected and one (5.6%) due to implant fracture secondary to loosening due to infection. Two patients (11%) have peri-implant infections suppressed with oral antibiotics. Eleven cases (61%) of superficial infection were successfully treated with antibiotics. 36-Item short-form health survey and Questionnaire for persons with a Transfemoral Amputation showed significant improvements in quality of life up to 5 years after implantation. Conclusion: This small cohort of patients demonstrates osseointegrated prosthesis allows prolonged usage and improves patients’ quality of life compared to conventional prostheses. Clinical relevance These prostheses may provide a future gold standard for amputees and this study provides the first outcome data over such a time period to be reported from outside of the developers group.

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