Publications by authors named "Zalak Shah"

Purpose: The purpose of the study is to evaluate the percentage differences in ganglion cell complex (GCC) and peripapillary retinal nerve fiber layer (pRNFL) parameters in fellow eyes of the same patient with varying severities of glaucomatous damage. As only the eyes of the same patient with different severities of glaucoma were included in the present study, it could be inferred that the difference in parameters represents the loss leading to the next stage of glaucoma.

Methods: This was a cross-sectional study of 136 adult primary glaucoma eyes of 68 patients.

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  • Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
  • A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
  • The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
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Purpose: To study the clinical and tomographic characteristics and associations of keratoconus (KC) patients visiting a tertiary eye care hospital.

Methods: This was a cross-sectional, observational study that included 242 newly diagnosed clinical KC patients. Detailed ocular and systemic history, visual complaints, habit of eye rubbing, best spectacle-corrected visual acuity (BSCVA), retinoscopy reflex, detailed slit-lamp examination and tomographic findings, and presence of any ocular and systemic associations were documented for the included patients.

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Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profile of this understudied disease. After quality control filtering, 728,197 CpG-sites in 278 cases and 172 controls were available for the analysis.

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  • The study focused on using teleophthalmology to detect eye disorders early in underserved rural areas, aiming to reduce visual impairment and improve treatment access.
  • Conducted over three months with 1,000 teleconsultations, most patients had conditions like cataracts and refractive errors; 57.9% didn’t need to visit the base hospital, which saved time and costs.
  • Results showed that teleophthalmology can be a cost-effective solution for eye care in rural regions of Gujarat, providing an estimated savings of Rs. 621 per patient.
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  • A study investigated the relationship between the human leukocyte antigen (HLA) locus and synucleinopathies, specifically Lewy body dementia (LBD) and isolated REM sleep behavior disorder (iRBD), which are linked to neuroinflammation.
  • It was found that the HLA-DRB1*11:01 allele was significantly associated with iRBD, while several other alleles showed varying associations.
  • The results imply that the HLA locus may have distinct roles depending on the type of synucleinopathy being examined.
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  • - The study investigates the role of the human leukocyte antigen (HLA) locus in isolated REM sleep behavior disorder (iRBD), Lewy body dementia (LBD), and Parkinson's disease (PD), highlighting the genetic and neuroinflammatory links between these synucleinopathies.
  • - Researchers performed genetic analyses using data from over 1,000 iRBD patients and 2,600 LBD patients to identify associations between specific HLA alleles and disease susceptibility, finding strong links for certain alleles in iRBD but not in LBD.
  • - The results indicate a unique association of the HLA allele *11:01 with iRBD, suggesting that the genetic factors may differ between these
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Context: Adult population visiting COVID vaccination center is a potential teachable moment for screening and preventive advice on non-communicable diseases.

Objectives: The objective of this study was to assess the proportion of vaccinees volunteering for screening and to know the proportion of newly detected hypertensives and diabetics among the screened vaccinees at COVID-19 vaccination center.

Setting And Design: This descriptive, cross-sectional, operational research study was carried out at the COVID vaccination center at a medical college in central Gujarat from July to September 2021.

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Introduction: Laser-assisted in situ Keratomileusis (LASIK) is the most commonly performed refractive surgical procedure. The amount of tissue ablated in LASIK affects the safety and long-term outcome. The objective of this study was to compare the percent tissue altered (PTA) in topography guided (TG) and wavefront optimized (WFO) LASIK using Zeiss MEL 80 excimer laser.

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Background: Loss-of-function mutations in GRN are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing Alzheimer's disease and Parkinson's disease. Although TDP-43-positive inclusions are characteristic of GRN-related neurodegeneration, Lewy body copathology has also been observed in many GRN mutation carriers.

Objective: The objective of this study was to assess a Lewy body dementia (LBD) case-control cohort for pathogenic variants in GRN and to test whether there is an enrichment of damaging mutations among patients with LBD.

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Significance: The article highlights various topographic patterns and their prevalence in a large spectrum of ectatic corneal diseases (ECDs). Knowledge of these patterns can help clinicians for quicker diagnosis and selection of appropriate contact lens design.

Purpose: This study aimed to determine various corneal topography patterns and their prevalence in patients with ECDs who visited a tertiary eye hospital in western India.

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The APOE locus is strongly associated with risk for developing Alzheimer's disease and dementia with Lewy bodies. In particular, the role of the APOE ε4 allele as a putative driver of α-synuclein pathology is a topic of intense debate. Here, we performed a comprehensive evaluation in 2466 dementia with Lewy bodies cases versus 2928 neurologically healthy, aged controls.

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Background: RIFINs and STEVORs are variant surface antigens expressed by P. falciparum that play roles in severe malaria pathogenesis and immune evasion. These two highly diverse multigene families feature multiple paralogs, making their classification challenging using traditional bioinformatic methods.

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  • The study investigates changes in endothelial cell parameters of the cornea across different stages of keratoconus, a condition affecting the shape of the eye.
  • It analyzed 162 eyes from 96 patients, measuring these parameters using specialized equipment and classifying the severity of keratoconus from stages 0 to 3.
  • The results showed no significant variations in endothelial cell density or morphology among the stages, suggesting that endothelial changes don't differ much as keratoconus progresses, although the analysis was limited for stage 4.
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Individuals acquire immunity to clinical malaria after repeated Plasmodium falciparum infections. Immunity to disease is thought to reflect the acquisition of a repertoire of responses to multiple alleles in diverse parasite antigens. In previous studies, we identified polymorphic sites within individual antigens that are associated with parasite immune evasion by examining antigen allele dynamics in individuals followed longitudinally.

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  • The genetic foundations of Lewy body dementia (LBD) remain unclear, prompting researchers to conduct whole-genome sequencing on both LBD patients and healthy individuals.
  • They discovered five distinct risk loci through genome-wide association analysis and identified mutations in the GBA gene as a significant factor.
  • The study suggests that LBD shares genetic risk factors and biological pathways with Alzheimer's and Parkinson's diseases, enhancing our understanding of this complex neurodegenerative disorder.
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Background: Newly emerged mutations within the Plasmodium falciparum chloroquine resistance transporter (PfCRT) can confer piperaquine resistance in the absence of amplified plasmepsin II (pfpm2). In this study, we estimated the prevalence of co-circulating piperaquine resistance mutations in P. falciparum isolates collected in northern Cambodia from 2009 to 2017.

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Purpose: To report the prevalence of keratoconus (KCN) in patients presenting for refractive surgery in western India.

Methods: A cross-sectional, observational, retrospective study performed at a tertiary eye care center. A total of 2902 cases, aged 18-40 years who presented in the refractive surgery department between January 2014 and December 2018 were included.

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Background: Owing to the large amount of host DNA in clinical samples, generation of high-quality Plasmodium falciparum whole genome sequencing (WGS) data requires enrichment for parasite DNA. Enrichment is often achieved by leukocyte depletion of infected blood prior to storage. However, leukocyte depletion is difficult in low-resource settings and limits analysis to prospectively-collected samples.

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Background: Plasmodium falciparum (Pf) whole-organism sporozoite vaccines have been shown to provide significant protection against controlled human malaria infection (CHMI) in clinical trials. Initial CHMI studies showed significantly higher durable protection against homologous than heterologous strains, suggesting the presence of strain-specific vaccine-induced protection. However, interpretation of these results and understanding of their relevance to vaccine efficacy have been hampered by the lack of knowledge on genetic differences between vaccine and CHMI strains, and how these strains are related to parasites in malaria endemic regions.

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The aim of this study was to examine the satisfaction with telehealth technologies of all users-patients, health care providers, and telehealth presenters. As the use of videoconferencing in health care is rapidly increasing to allow adequate and timely access to care for patients from rural areas, it is important to examine how these technologies are perceived and utilized. Three separate surveys were used to collect data: patient, provider, and telehealth coordinator.

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Unlabelled: Although intra-axonal protein synthesis is well recognized in cultured neurons and during development in vivo, there have been few reports of mRNA localization and/or intra-axonal translation in mature CNS axons. Indeed, previous work indicated that mature CNS axons contain much lower quantities of translational machinery than PNS axons, leading to the conclusion that the capacity for intra-axonal protein synthesis is linked to the intrinsic capacity of a neuron for regeneration, with mature CNS neurons showing much less growth after injury than PNS neurons. However, when regeneration by CNS axons is facilitated, it is not known whether the intra-axonal content of translational machinery changes or whether mRNAs localize into these axons.

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