Psychometric analysis of Marathi version of an updated European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Head and Neck Module (EORTC QLQ-H&N43).

Background: The aim of this study was to perform a psychometric analysis of the Marathi version of an updated European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Head and Neck Module (EORTC QLQ-H&N43) in patients of head and neck squamous cell carcinoma (HNSCC).

Material And Methods: After an institutional ethics committee approval and linguistic validation, the Marathi version of EORTC QLQ-H&N43 was served to consecutive eligible, Marathi-speaking HNSCC patients of oral cavity, oropharynx, hypopharynx and larynx, registered from August 2019 to March 2021 and who consented to the study. Performance status scale was used for perceptive assessment of organ function.

Association between depressive symptoms and socioeconomic status in head and neck cancer patients attending rural tertiary health care center.

Aim: To study the association between depressive symptoms and socio-economic status (SES) in patients with head and neck cancer (HNC).

Materials And Methods: Histopathology-proven non-metastatic and non-recurrent HNC patients attending radiation oncology services in February and June 2021 who consented to the study were evaluated with an interview. Hamilton Depression Rating Scale (HDRS) and modified BG Prasad classification were used to assess depressive symptoms and SES, respectively.

Pretreatment hematological parameters as predictors of tumor granulocyte-colony-stimulating factor expression in patients of head-and-neck squamous cell carcinoma.

Background: Tumor secreting granulocyte-colony-stimulating factor (G-CSF) and/or G-CSF therapy has been documented as a poor prognostic factor. Tumor G-CSF study is a relatively costly and sparsely available investigation. Therefore, this study was undertaken to predict tumor G-CSF score from pretreatment hematological parameters (PTHP) in patients of head-and-neck squamous cell carcinoma (HNSCC).

Subjective and perceptive assessment of speech/voice and swallowing function before and after radiation therapy in patients of head-and-neck squamous cell cancer.

Aim: To prospectively assess subjective and perceptive speech/voice and swallowing function before and after radiation therapy (RT) in patients of head-and-neck squamous cell cancer (HNSCC).

Materials And Methods: The study cohort comprised eligible consecutive HNSCC patients planned for curative RT from April 2018 to July 2018 who consented for the study. Prospective evaluation of speech/voice and swallowing function was done before and after RT.

Serum 25-hydroxy vitamin-D levels in head and neck cancer chemoradiation therapy: Potential in cancer therapeutics.

Background: To evaluate the relation between serum-25-hydroxy Vitamin-D levels (S25OHVDL) and concurrent chemoradiation therapy (CTRT) toxicities in patients of head and neck squamous cell cancer (HNSCC).

Methods: After an institutional ethics committee approval, consecutive HNSCC patients who received radical/adjuvant CTRT were prospectively evaluated. Patients were assessed for CTRT toxicities using Common Terminology Criteria for Adverse Events version 5.

Oncology treatment outcome in human immunodeficiency virus-positive cancer cervix patients: Where we are and what we achieved?

Objective: To find out the epidemiological factors and oncology treatment outcome in human immunodeficiency virus-positive cancer cervix patients (HPCCP).

Materials And Methods: After institutional ethics committee approval, hospital case records of HPCCP registered at the radiation oncology department from January 2011 to December 2018 were retrospectively studied.

Results: The case records of 22 eligible HPCCP were studied.

Marathi Translation and Linguistic Validation of an Updated European Organization for Research and Treatment of Cancer Quality of Life Module for Head and Neck.

 This study was aimed to translate an updated European Organization for Research and Treatment of Cancer (EORTC) quality of life module for head and neck (EORTC QLQ-H&N43) in grammatically and conceptually acceptable Marathi language and its linguistic validation.  Approval was obtained from the Institutional Ethics Committee. The permission for translation was obtained from the EORTC translation unit (TU).

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a common refractive error that is associated with strabismus and amblyopia in children. NNO1 was the first mapped nanophthalmos locus.

BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons.

Crystallin proteins are the most prominent protein of the lens and have been increasingly shown to play critical roles in other tissues, especially the retina. Members of all 3 sub-families of crystallins, alpha-, beta- and gamma-crystallins have been reported in the retina during diabetes, traumatic injury and other retinal diseases. While their specific role in the retina is still unclear and may vary, beta-crystallin proteins have been shown to play a critical role in ganglion cell survival following trauma.

Congenital cataracts: de novo gene conversion event in CRYBB2.

Purpose: To identify the cause of congenital cataracts in a consanguineous family of Ashkenazi Jewish ancestry.

Methods: We performed genome-wide linkage analysis and whole-exome sequencing for the initial discovery of variants, and we confirmed the variants using gene-specific primers and Sanger sequencing.

Results: We found significant evidence of linkage to chromosome 22, under an autosomal dominant inheritance model, with a maximum logarithm of the odds (LOD) score of 3.

Genome-wide association study and meta-analysis of intraocular pressure.

Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate the published findings, we performed GWAS and meta-analysis of IOP in >6,000 subjects of European ancestry collected in three datasets: the NEI Glaucoma Human genetics collaBORation, GLAUcoma Genes and ENvironment study, and a subset of the Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study.

A prospective cross-sectional study of fetal middle cerebral artery peak systolic velocity in a normal obstetric population attending an Indian Medical College.

Purpose: Fetal middle cerebral artery peak systolic velocity (MCA-PSV) is now an established method of noninvasive diagnosis of moderate to severe fetal anemia of different origins. This being a population-based parameter, it may have different values in individuals from different locations. A standard local reference range of normal individuals specific to each geographic locality is therefore needed.

Developmental validation of the PrepFiler Forensic DNA Extraction Kit for extraction of genomic DNA from biological samples.

The PrepFiler Forensic DNA Extraction Kit enables isolation of genomic DNA from a variety of biological samples. The kit facilitates reversible binding of DNA with magnetic particles resulting in high DNA recovery from samples with very low and high quantities of biological materials: 0.1 and 40 microL of human blood (donor 2) provided 14 and 2883 ng of DNA, respectively.

Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.

Purpose: To search for MYOC mutations in Peruvian primary open angle glaucoma (POAG) families.

Patients And Methods: Two patients from each of the 11 POAG Peruvian families were screened for sequence variants in MYOC coding exons by conformational sensitive gel electrophoresis and sequencing was performed on the samples indicating probable sequence changes.

Results: We detected 2 families bearing distortions of conformational sensitive gel electrophoresis indicating mutations.

Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.

Objectives: To evaluate if timolol affects expression of 3 open-angle glaucoma genes and to study its ability to modulate dexamethasone-induced up-regulation of MYOC.

Methods: We used quantitative polymerase chain reaction assay of glaucoma gene transcript levels from human trabecular meshwork (HTM) cultures exposed to 3 different doses of timolol. Three HTM cell cultures were grown with or without 1 of 3 timolol doses in the presence or absence of dexamethasone.

Variation in optineurin (OPTN) allele frequencies between and within populations.

Purpose: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations.

Methods: Case-controlled study of OPTN sequence variants in individuals with or without glaucoma in populations of different ancestral origins and evaluate previous OPTN reports. We analyzed 314 subjects with African, Asian, Caucasian and Hispanic ancestries included 229 cases of primary open-angle glaucoma, 51 cases of juvenile-onset open-angle glaucoma, 33 cases of normal tension glaucoma, and 371 controls.

Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus.

Objectives: To develop and apply a model for prioritization of candidate glaucoma genes.

Methods: This Affymetrix GeneChip (Affymetrix, Santa Clara, Calif) study of gene expression in primary culture human trabecular meshwork cells uses a positional differential expression profile model for prioritization of candidate genes within the GLC1C genetic inclusion interval.

Results: Sixteen genes were expressed under all conditions within the GLC1C interval.

Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure.

Purpose: Topical use of dexamethasone has long been associated with steroid induced-glaucoma, although the mechanism is unknown. We applied a strict filtering of comparative microarray data to more than 18,000 genes to evaluate global gene expression of cultured human trabecular meshwork cells in response to treatment with dexamethasone.

Methods: Three human trabecular meshwork cell primary cultures from nonglaucomatous donors were incubated with and without dexamethasone for 21 days.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. We previously mapped PPCD to a region (PPCD3) on chromosome 10 containing the gene that encodes the two-handed zinc-finger homeodomain transcription factor TCF8.

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

Age-related macular degeneration (AMD) is a genetically heterogeneous disease that leads to progressive and irreversible vision loss among the elderly. Inflammation, oxidative damage, cholesterol metabolism and/or impaired function of retinal pigment epithelium (RPE) have been implicated in AMD pathogenesis. We examined toll-like receptor 4 (TLR4) as a candidate gene for AMD susceptibility because: (i) the TLR4 gene is located on chromosome 9q32-33, a region exhibiting evidence of linkage to AMD in three independent reports; (ii) the TLR4-D299G variant is associated with reduced risk of atherosclerosis, a chronic inflammatory disease with subendothelial accumulation; (iii) the TLR4 is not only a key mediator of proinflammatory signaling pathways but also linked to regulation of cholesterol efflux and (iv) the TLR4 participates in phagocytosis of photoreceptor outer segments by the RPE.

Mapping and gene expression profile of the minimally overrepresented 8q24 region in prostate cancer.

We have recently reported that overrepresentation of 8q24 (c-myc) is associated with clinical progression in prostate cancer. In this study, we map the boundaries of the overrepresented region within 8q23-q24 using interphase fluorescent in situ hybridization analysis of paraffin-embedded prostate cancer specimens. One hundred primary prostate cancers and three prostate cancer cell lines were evaluated, and the minimally overrepresented region could be narrowed to the approximately 8.