bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders
Authors: Vanaja Maria Celestina , Jain Jamal Mohammed Nurul , Dalal Ashwin , Ranganath Prajnya 
Published: July 2023

Background & objectives:
Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. The aim of this study was to develop a cost-effective, readily customizable and scalable molecular genetic testing strategy for LSDs.

Methods:
A testing method was designed based on the in-house creation of selective amplicons through long range PCR amplification for targeted capture and enrichment of different LSD genes of interest, followed by next generation sequencing of pooled samples.

Results:
In the first phase of the study, standardization and validation of the study protocol were done using 28 samples of affected probands and/or carrier parents (group A) with previously identified variants in seven genes, and in the second phase of the study, 30 samples of enzymatically confirmed or biopsy-proven patients with LSDs and/or their carrier parents who had not undergone any prior mutation analysis (group B) were tested and the sequence variants identified in them through the study method were validated by targeted Sanger sequencing.

Interpretation & conclusions:
This testing approach was found to be reliable, easily customizable and cost-effective for the molecular genetic evaluation of LSDs. The same strategy may be applicable, especially in resource poor settings, for developing cost-effective multigene panel tests for other conditions with genetic heterogeneity.
Clinical utility, feasibility of home tonometry using iCare HOME by glaucoma patients
Authors: Kadambi Sujatha V , Aishwarya M , Leelavathy C , George Ronnie , Balekudaru Shantha , Lingam Vijaya , Baskaran Mani 
Published: July 2023

Purpose:
To determine agreement between diurnal variation testing (DVT) of intraocular pressure (IOP) with Goldmann applanation tonometer (GAT) and iCare HOME (IH) by an optometrist (OP) and home monitoring by participants (PT).

Methods:
Patients (18–80 years) with glaucoma and suspects were enrolled. IH IOP and GAT were taken by an OP at 2 h intervals from 8 AM to 4 PM on Day 1 and PT between 6 AM and 9 PM, for the next 2 days. IOP, date, and time were viewed via iCare LINK software.

Results:
In total, 72.9% (51/70) PT trained were able to take reliable readings. One hundred two eyes (51 patients, age 53 ± 16 yrs) were analyzed. Correlation between optometrist (OP) and participants (PT) was strong and positive {IH OP-IH PT- r = 0.90, p-0.0001;IH PT-GAT- r = 0.79, p-0.0001}. Agreement by Bland Altman plots was limited {IH OP-IH PT mean 0.1 mmHg (95% LOA -5.3 to 5.5), IH PT-GAT 2.2 mmHg (-5.7 to 10.1)}. Intraclass correlation coefficient for IH OP-IH PT was 1.18 (95% CI 1.37-1.09). Intradevice {0.95 (95% CI 0.94-0.97)} and interrater repeatability {0.91 (0.79–0.96)} were good. 37% of eyes had a synchronous peak on GAT and IH during the day DVT.

Conclusion:
Home tonometry by iCare HOME is easy, feasible, but due to limited agreement cannot substitute GAT DVT.
Distance and near vision changes after intravitreal anti-vascular endothelial growth factor injection in eyes with center-involving diabetic macular edema
Authors: Rajasekar Loheshwari Kuppuraj , Kashyap Himanshu , Nadig Ramya R , Jaisankar Durgasri , Sathyaprasath Mathangi , Laxmi Gella , Raman Rajiv 
Published: July 2023

Purpose:
To elucidate distance and near vision changes after intravitreal injections in center-involving diabetic macular edema (CIDME) in phakic and pseudophakic groups.

Methods:
A retrospective study was done on 148 eyes (72 phakic and 76 pseudophakic) with center-involving DME. All eyes were treated with intravitreal anti-vascular endothelial growth factor (VEGF) injection. All patients underwent distance best-corrected visual acuity (BCVA) testing, near BCVA testing, dilated fundus examination, and optical coherence tomography (OCT) at baseline and follow-up visits. Eyes that could not improve after the first injection were given 2nd, 3rd, and more injections in the subsequent visits.

Results:
On follow-up, post injections in the phakic group (n = 72), there were 65 eyes (90.3%) with stable/improved near vision and 59 eyes (81.9%) with stable/improved distance vision, whereas in the pseudophakic group (n = 76), 63 eyes (82.9%) and 60 eyes (78.9%), respectively. Both in phakic and pseudophakic eyes, 7.7%–13% of the cohort showed only near vision improvement.

Conclusion:
In DME, besides the changes in distance vision, there are also changes in near vision. These changes should be taken into account while determining the response to anti-VEGF in DME treatment.
Prevalence and causes of visual impairment in Dongaria indigenous (tribal) community. Tribal Odisha eye disease study # 12
Authors: Majhi Debasmita , Das Taraprasad , Padhy Debananda , Marmamula Srinivas , Khanna Rohit C , Ota Akhila Bihari , Rout Prachi Parimita , Avhad Komal , Rath Suryasnata 
Published: July 2023

Purpose:
To document the spectrum and magnitude of eye disorders and visual impairment in the Dongaria—a Particularly Vulnerable Tribal Group in the Rayagada district of Odisha, India.

Methods:
A door-to-door screening protocol included a record of basic health parameters, visual acuity for distance, and near and flashlight examination of the eyes. Spectacles were dispensed to those who improved; those who failed the screening were referred to fixed (primary and secondary) eye care centers.

Results:
We examined 89% (n = 9872/11,085) of people who consented for screening. The mean age was 25.5 ± 18.8 years; 55% (n = 5391) were female; 13.8% (n = 1361) were under-five children, and 39% (n = 3884) were 6 to 16 years. 86% (n = 8515) were illiterate. 12.4% (n = 1224) were visually impaired, of which 9.9% had early moderate VI, and 2.5% had severe VI and blindness. Uncorrected refractive error was detected in 7.5% (n = 744) and cataracts in 7.6% (n = 754); among the adults, 41.5% (n = 924/2227) had presbyopia. In children, 20% (n = 790) had vitamin A deficiency, 17% (n = 234) had global acute malnutrition, and 18% (n = 244) were stunted for their age. Almost two-thirds (62%, n = 6144) confirmed habitual intake of alcohol, and 4% (n = 389) of adults had essential hypertension. Following the screening, 43.5% (n = 837) of referred patients reported to the fixed centers, and 55% (134/243) of people advised underwent cataract surgery. Spectacles were dispensed to 1496 individuals.

Conclusion:
Visual impairment and malnutrition are high in Dongaria indigenous community. Permanent health facilities and advocacy would improve this community's health and health-seeking behavior.
Mapping prognostic factors for globe survival in panophthalmitis using logistic regression and Cox proportional hazard models: A retrospective study
Authors: Tanwar Meghana , Chakrabarty Sabyasachi , Chowdhury Gunja , Kim Usha 
Published: July 2023

Purpose:
The aim of this study was to report the outcomes of panophthalmitis and to identify factors significantly affecting globe survival in the disease.

Methods:
This was a retrospective study on patients with panophthalmitis in a tertiary hospital between January 1, 2017, and December 31, 2019. The demographics, treatment details, culture results, and final outcomes were recorded. Logistic regression and Cox proportional hazards (CPH) were calculated to identify variables associated with globe loss. A P < 0.05 was considered significant.

Results:
Eighty-five eyes of 85 patients (31 culture positive) were eligible for review. The mean age of the participants was 55.21 ± 20.17 years with a male-to-female ratio of 2.04:1. Corneal ulcer (38.82%; n = 33) and open globe injuries (OGIs) (38.82%; n = 33) were the most common etiologies. Pseudomonas aeruginosa (n = 10; 11.76%) was the most common isolate. The mean duration of hospital stay was 7.58 ± 2.32 days. Overall, 44 (51.76%) globes could be salvaged. The need for evisceration (P = 0.901) and hospital stays (P = 0.095) were similar for culture-positive and -negative cohorts. The unadjusted logistic regression and CPH models showed that culture sterility did not affect globe survival [OR = 1.210 (0.501–2.950), P = 0.668; HR = 1.176 (0.617–2.243), P = 0.623]. The adjusted logistic regression and the CPH models showed that corneal ulcers [OR = 10.900 (2.460–48.200), P = 0.002; HR = 5.393 (1.603–18.140), P = 0.006] and OGI [OR = 7.360 (1.650–32.700), P = 0.009; HR = 4.548 (1.321–15.660), P = 0.016] were significantly associated with globe loss.

Conclusion:
Corneal ulcer or OGI as the primary etiology is detrimental to globe survival in panophthalmitis.
Knowledge and perception of health-care professionals on clinical trials in India: A pan-Indian cross-sectional survey
Authors: Pillai Gopal S , Sheeba C S , Barman Manabjyoti , Sen Alok , Sundaram Natarajan , Dickson Merin , Joyal Shamilin , Choudhury Manjisa , Joy Merlin Mery , Deepthi K G , Jangid Poonam , Dudwadkar Shruti 
Published: July 2023

Purpose:
The purpose of the study was to evaluate the knowledge and perception of health-care professionals (HCPs), such as doctors/surgeons, pharmacists, nurses, optometrists, and lab technicians, on clinical trials (CTs) in India.

Methods:
The study was a pan-Indian cross-sectional survey initiated by the Indian Ophthalmology Clinical Trial Network (IOCTN) by using a previously validated questionnaire for three months of data collection. An online survey was used to record information regarding demographics, CT knowledge, and CT perception among HCPs.

Results:
A total of 630 responses were recorded from HCPs: 207 doctors and surgeons, 159 pharmacists, and 264 laboratory technicians, nurses, and optometrists across India. Over 90% of HCPs had a clear knowledge on the purpose of CTs, the informed consent (IC) process, ethical approval by the Drugs Controller General of India (DCGI). About 80% and 90% were aware of confidentiality of patients, voluntariness of participation, and good clinical practice. Surprisingly, less than 50% had lesser knowledge regarding monetary incentives of CT participants (CTPs). A slightly positive perception was observed regarding the potential benefits of CTPs, compensation related to injury, and importance of obtaining IC. Less than 50% had a negative perception that monetary compensation to CTPs led to bias and deprivation of standard treatments. However, no significant difference was observed between other aspects of demographics and perception regarding CTs.

Conclusion:
We observed doctors and surgeons to be having the highest regarding CTs, followed by pharmacists. The survey highlighted the necessity of scheduling awareness programs among the HCPs, which would improve their misconceptions and perception of CTs while interacting with patients for CT enrollment.
Epidemic retinitis during pregnancy
Authors: Kawali Ankush , Mahendradas Padmamalini , Sanjay Srinivasan , Mishra Sai Bhakti , Shetty Bhujang 
Published: July 2023

Purpose:To study the clinical presentation and treatment outcome of epidemic retinitis (ER) during pregnancy.Methods:This is a retrospective, observational chart review of pregnant patients diagnosed with ER from January 2014 to February 2023. Demographic details, month of pregnancy at the onset of ocular symptoms, history of present illness, clinical manifestations, and treatment outcomes were studied.Results:In 9 years, ER was seen in 86 females, of whom 12 (13.9%) were pregnant. Twenty-one eyes of those 12 patients were studied. Most of the patients presented in the sixth month of pregnancy (range: 5–9 months, mean: 6.3 months). Physicians diagnosed viral exanthematous fever in six, typhoid in three, and suspected rickettsia in one patient. Medical termination of pregnancy (MTP) was performed in two patients before presentation. Weil–Felix test was positive in five,Brucellain one, WIDAL in three, and coronavirus disease 2019 (COVID-19) IgG and dengue IgG in one patient each. Oral antibiotics were given in five patients (two post-medical termination of pregnancy [MTP]) for the retinitis. All except four received oral steroids. Mean presenting corrected distant visual acuity (n= 21) was 20/125 (range: 20/20–20/20,000), which improved to (n= 18) 20/30 (range: 20/20–20/240). Macular edema (n= 11) resolved in 33.18 days (range: 20–50 days), and retinitis (n= 13) resolved in 58 days (range: 30–110 days). Ocular and systemic examination of newborn was possible in two and the babies were normal.Conclusion:ER is seen commonly at the beginning of the third trimester. Lack of antibiotics may delay the resolution of retinitis. Ocular health needs to be assessed in larger series to conclude absence of retinal involvement in newborns.
Demographic profile and clinical characteristics of patients presenting with acute ocular burns
Authors: Kate Anahita , Sharma Supriya , Yathish S , Das Anthony Vipin , Malepati Nikhila , Donthineni Pragnya R , Basu Sayan , D’Souza Sharon , Shanbhag Swapna S 
Published: July 2023

Purpose:
To study and compare the demographic and clinical profile of acute ocular burns (AOB) in children and adults.

Methods:
This retrospective case series included 271 children (338 eyes) and 1300 adults (1809 eyes) who presented to two tertiary eye care centers within one month of sustaining AOB. Data regarding demographics, causative agents, severity of injury, visual acuity (VA), and treatment were collected and analyzed.

Results:
Males were more commonly affected particularly among adults (81% versus 64%, P < 0.00001). Among children, 79% sustained domestic injuries, whereas 59% of adults had work-place injuries (P < 0.0001). Most cases were due to alkali (38%) and acids (22%). Edible lime (chuna, 32%), superglue (14%), and firecrackers (12%) in children, and chuna (7%), insecticides, lye, superglue (6% each), toilet cleaner (4%) and battery acid (3%) in adults, were the main causative agents. The percentage of cases with Dua grade IV-VI was greater in children (16% versus 9%; P = 0.0001). Amniotic membrane grafting and/or tarsorrhaphy were needed in 36% and 14% of affected eyes in children and adults, respectively (P < 0.00001). The median presenting VA was logMAR 0.5 in children and logMAR 0.3 in adults (P = 0.0001), which improved significantly with treatment in both groups (P < 0.0001), but the final VA in eyes with Dua grade IV-VI burns was poorer in children (logMAR 1.3 versus logMAR 0.8, P = 0.04).

Conclusion:
The findings clearly delineate the at-risk groups, causative agents, clinical severity, and treatment outcomes of AOB. Increased awareness and data-driven targeted preventive strategies are needed to reduce the avoidable ocular morbidity in AOB.
Impact of learning effect on reliability factors and global indices in visual field testing by standard automated perimetry in normal healthy subjects and primary open-angle glaucoma patients to obtain an accurate baseline perimetry chart
Authors: Rana Jagriti , Singh Anjali , Singh Arti , Singh Kamaljeet , Singh Shivangi , Yadav Vineet Kumar 
Published: July 2023

Purpose:
To record and evaluate the reliability parameters (fixation loss (FL) %, false positive (FP) %) and global indices (mean sensitivity (MS), mean deviation (MD), pattern standard deviation in dB) in three visual field test sessions within two weeks to assess the learning effect in normal healthy subjects and POAG patients and comparison of learning effect gender wise and age wise in primary open-angle glaucoma (POAG) patients.

Methods:
This study was a prospective observational study. An oculus visual field testing was done and analyzed in 30 eyes of POAG patients and 30 eyes of normal healthy subjects in three visits.

Results:
There were 16 (53.3%) males and 14 (46.6%) females in the POAG group and 16 (53.33%) males and 14 (46.66%) females in the normal healthy subject group. A significant difference in data change between each visit in FL, FP, MD, MS was found though the difference was more pronounced in the second visit than in the third visit. The pattern standard deviation does not change significantly in subsequent visits in both groups. Gender wise and age wise no significant difference was found in the POAG group.

Conclusion:
Significant improvement in reliability parameters and global indices with each subsequent visit in both the POAG group and normal patients signifies the importance of learning effect on these parameters and the need to perform at least three tests to get the baseline perimetry chart, especially in POAG patients, while in normal subjects, second perimetric result can be accepted. It was also concluded that the learning effect is not influenced by age and gender.
A comparative study on surgical outcomes of trabeculectomy with and without anti-metabolites in juvenile open-angle glaucoma
Authors: Senthilkumar Vijayalakshmi A , Rajendrababu Sharmila , Kavya Kondepati , Pathak Amit , Uduman Mohammed Sithiq 
Published: July 2023

Purpose:
To compare the surgical outcomes of trabeculectomy with and without anti-metabolites in patients with juvenile open-angle glaucoma (JOAG).

Methods:
This retrospective comparative case series included 98 eyes of 66 patients with JOAG who underwent either trabeculectomy without anti-metabolites (group A, n = 53 eyes) or with anti-metabolites (group B, n = 45 eyes) with a minimum of 2 years follow-up. The main outcome measures were intra-ocular pressure (IOP), number of glaucoma medications, visual acuity, additional surgical interventions, surgical complications, and risk factors for failure. Surgical failure was defined as IOP >18 mmHg or failure to reduce IOP by <30% from the baseline value or IOP ≤5 mmHg or re-operation for refractory glaucoma or a complication or loss of light perception vision.

Results:
The mean post-operative IOP reduced significantly from baseline at all post-operative visits until 6 months and thereafter. The cumulative probability of failure at 2 years was 28.7% in group A [95% confidence interval (CI) = 17.6–44.8%] and 29.1% in group B (95% CI = 17.1–46.7%) (P = 0.78). Surgical complications occurred in 18 eyes (34%) in group A and 19 eyes (42%) in group B. Re-operations for glaucoma or complications were performed in two eyes (3.8%) in group A and two eyes (4.4%) in group B. Cox-hazard regression model revealed male gender (HR = 0.29; P = 0.008), baseline high IOP (HR = 0.95; P = 0.002), and an increased number of pre-operative glaucoma medications (HR = 2.08; P = 0.010) as significant factors associated with failure.

Conclusion:
Our study results on trabeculectomy in JOAG revealed a success of 71% in both groups at 2 years follow-up. There was no significant difference in success or failure rates between the two groups. The risk factors for poor surgical outcome in JOAG were male gender, baseline high IOP, and an increased number of glaucoma medications.
A long-term clinical outcome of Hoffmann pocket four-point scleral fixated intraocular lens implantation combined with penetrating keratoplasty – A single corneal surgeon’s report
Authors: Narayanan Niveditha , Ravi Pranessh , Toshwani Nikhil 
Published: July 2023

Purpose:
To analyze retrospectively the outcomes of Hoffmann pocket scleral fixated intraocular lens implantation combined with penetrating keratoplasty at a tertiary institute by a single corneal surgeon.

Methods:
Forty-two eyes of 42 patients, aged between 11 and 84 years, had a mean follow-up of 2 ± 2.216 years. Overall, five (11.9%) had congenital and 37 had acquired pathology, 15 were pseudophakic, 23 were aphakic, and four were phakic. The commonest indication was trauma in 19 (45.2%), and 21 had previous multiple surgeries including five retinal procedures.

Results:
The grafts were clear in 20 (47.6%), they failed in 20, three had acute rejection, three were ectatic, two had infection, one had persistent edema, and one had endophthalmitis. The mean log of minimum angle of resolution (logMAR) best corrected visual acuity was 1.902 pre-op, 1.802 at the final follow-up, and 0.52 after excluding preexisting retinal pathologies. At the last follow-up, the vision improved in 18 (42.9%), maintained in 6, and worsened in 18, and three needed more than −5.00 D and seven needed more than −3.00 D cylinder correction. Five had glaucoma preoperatively, 10 developed the condition postoperatively, six needed cyclodestructive procedure, and three had valve surgery.

Conclusion:
Advantages of this surgery are avoidance of additional sections to insert the lens, direct positioning of the lens in the posterior chamber, rotational stability of the lens from four-point fixation, and untouched conjunctiva over the scleral pockets. The fact that 20 had clear grafts and 18 visually improved, though two needed lens removal and one developed retinal detachment postsurgery is encouraging. More cases with longer follow-ups will help understand the technique better.
Prevalence and Determinants of Avian Allergic Manifestation in a Selected Rural Population in Mysuru: A Cross-Sectional Survey
Authors: Anil Deepak , Salkatte Ravindra , Sunil Kumar D , Vanmathi A , Gopi Arun , Murthy M. R. Narayana 
Published: July 2023

Background:
Avian diseases should be known to people who raise birds as pets or for commercial purposes. Exposure to high levels of airborne dust and endotoxins is known to cause allergies. This study, therefore, intends to assess avian allergy and its associated factors among poultry workers and bird fanciers in urban Mysuru.

Methods:
A cross-sectional study was done over three months among 60 poultry workers and 60 bird fanciers in a selected rural population of the Mysuru district. The participants were selected by simple random sampling method and their data were obtained by interview method using a pre-tested semi-structured questionnaire. Chi-square test/Fisher’s exact test was used to check the associations between the demographic variables’ avian allergy.

Results:
The survey revealed that 31.67% of poultry workers and 53.33% of bird fanciers had symptoms. The majority of the study participants were illiterate and were not using personal protective equipment (PPE) regularly. The results showed a significant association between education (P = 0.013) and the use of PPE (P = 0.020) with avian allergy. Observing the health hazards, 42.10% had respiratory problems, 42.10% had skin problems, and 26.31% had eye problems. Further, a significant association was also found between education and knowledge about diseases (P = 0.001).

Conclusion:
The avian allergy among the bird fanciers was higher when compared to poultry workers. It is necessary to organize routine counseling, awareness, and training programs about diseases and prevention strategies related to their work and living environments and keep them updated.