The thyroid-pericardium connection: Unveiling the influence of hypothyroidism severity on pericardial effusion in South Gujarat's patient population-A cross-sectional study.

Context: Hypothyroidism and pericardial effusion are two conditions that are associated with previous research. Nevertheless, the correlation between the severity of hypothyroidism and the occurrence of pericardial effusion remains uncertain. Aims: 1. To explore and examine the association between the severity of hypothyroidism and the occurrence of pericardial effusion. 2. To compare clinical characteristics and demographic factors with varying degrees of hypothyroidism severity and pericardial effusion. Settings and Design: Tertiary care hospital and cross-sectional study using a pretested, semistructured questionnaire and echocardiography. Method and Material: The cross-sectional study encompassed a cohort of 60 patients diagnosed with hypothyroidism. Statistical Analysis Used: Epi-info version 7.0 and Open epi version 3.1, Chi-square, mean, and standard deviation were used. Results: There were 16 male participants, accounting for 26.7% of the total, and 44 female participants, constituting 73.3% of the cohort. The participants' average age was 35.5 years. Based on TSH levels, the severity of hypothyroidism in the study was classified into three categories: mild (33.4%), moderate (43.3%), and severe (23.3%). The most common symptoms were lethargy, weight gain, and cold intolerance. Also, an association between the severity of hypothyroidism and pericardial effusion was noted. Conclusion: This research established a noteworthy correlation between hypothyroidism severity and pericardial effusion incidence that is statistically significant. Nevertheless, no significant associations were detected with demographic factors or pulse rate. These results underscore the significance of monitoring and addressing pericardial effusion in patients with moderate-to-severe hypothyroidism. Further investigations are warranted to extend these findings.

Outbreak of toxic anterior segment syndrome following vitreoretinal surgery - A retrospective analysis.

BACKGROUND: Toxic anterior segment syndrome (TASS) is an uncommon complication of vitreoretinal surgery and is characterized by severe anterior chamber reaction, hypopyon, and limbus-to-limbus corneal edema. METHODS: Twenty-nine vitreoretinal surgeries were performed, of which 14 developed TASS in the early postoperative period. The operative records were reviewed retrospectively. RESULTS: The median age of patients was 49.07 ± 16.75 years and 14.28% of them were female. Also, 71.42% were operated in the left eye and 42.8% were pseudophakic. Recurrent retinal detachment, secondary scleral-fixating intraocular lens (SFIOL), and silicone oil removal (SOR) were the most common procedures. Severe anterior chamber reaction was seen in 14 patients, circumcorneal congestion in eight, corneal edema in 11 (78.6%), hypopyon in 13 (92.8%), and severe fibrin membrane in two patients. CONCLUSION: We describe the largest series of TASS following uneventful vitreoretinal surgery. Balanced salt solution was the instigating agent in this series. A prompt and thorough investigation is critical in obviating recurrences.

Surgical management of glaucoma in microspherophakia using quadruple procedure.

Background: Microspherophakia is a rare developmental lens anomaly with increased anteroposterior and reduced equatorial diameter. It presents with refractive myopia, shallow anterior chamber, and angle closure glaucoma. It is associated with subluxated or dislocated lens, progressive myopia, defective accommodation, and glaucoma. Glaucoma is the most common vision-threatening complication and mostly requires surgical management that includes trabeculectomy, lensectomy, and drainage implant. A staged or combined procedure can be performed. The purpose of this video is to highlight the advantages of combining parsplana vitrectomy (PPV) with parsplana lensectomy (PPL), scleral fixated intraocular lens (SFIOL), and Aurolab aqueous drainage implant (AADI) in a young patient with advanced glaucoma and gross subluxation. Drainage implants are preferred over filtering surgeries in eyes undergoing vitreoretinal procedures due to the risk of bleb fibrosis and hypotony seen in the latter. The combined procedures should be tailored according to the lens status and severity of glaucoma in each patient. Purpose: The purpose of this video is to illustrate a combined quadruple procedure (PPL, PPV, SFIOL, and AADI) in microspherophakic patients with unstable glaucoma and video-based skill transfer to a novice surgeon. Synopsis: This video illustrates quadruple surgery in a microspherophakic patient with secondary angle closure glaucoma. The authors also emphasize the advantages of a combined quadruple procedure over staged procedure or combined PPL with filtering procedure. Highlights: Quadruple procedure can be performed in young microspherophakic patients with advanced glaucoma or at risk of progression and losing central vision along with gross subluxation of lens. It eliminates the need for multiple procedures, the risk of hypotony, and bleb-related complications. Video link: https://youtu.be/KdFjb7acXCI.

Profiling of idiopathic macular hole vitreous proteome identifies the role of extracellular matrix remodelling, epithelial-mesenchymal transformation and unfolded protein-response pathways.

Purpose: To analyze and describe the proteome of the vitreous humour in eyes with idiopathic macular holes. Methods: We performed mass spectrometry (MS)-based label-free quantitative analysis of the vitreous proteome of idiopathic macular hole (IMH) and control donor vitreous. Comparative quantification was performed using SCAFFOLD software which calculated fold changes of differential expression. Bioinformatics analysis was performed using DAVID and STRING software. Results: A total of 448 proteins were identified by LC-MS/MS in IMH and cadaveric eye vitreous samples, of which 199 proteins were common. IMH samples had 189 proteins that were unique and 60 proteins were present only in the control cadaveric vitreous. We found upregulation of several extracellular matrix (ECM) and cytoskeletal proteins, namely collagen alpha-1 (XVIII) chain, N-cadherin, EFEMP1/fibulin-3, basement membrane-specific heparan sulfate proteoglycan core protein, and target of Nesh-3. Several cytoskeleton proteins, namely tubulin, actin, and fibronectin levels, were significantly lower in IMH vitreous, probably reflecting increased ECM degradation. IMH vitreous also had a downregulation of unfolded protein response-mediated-mediated apoptosis proteins, possibly related to a state of increased cell survival and proliferation, along with a remodelling and aberrant production of ECM contents. Conclusion: The pathogenesis of macular holes may involve ECM remodelling, epithelial-mesenchymal transformation, downregulation of apoptosis, protein folding defects, and complement pathway. The vitreo-retinal milieu in macular holes contain molecules related to both ECM degradation and inhibition of the same, thereby maintaining a homeostasis.

Genomic heterogeneity as a barrier to precision oncology in urothelial cancer.

Precision oncology relies on the accurate molecular characterization of individual patients with cancer at the time of treatment initiation. However, tumor molecular profiles are not static, and cancers continually evolve because of ongoing mutagenesis and clonal selection. Here, we performed genomic analyses of primary tumors, metastases, and plasma collected from individual patients to define the concordance of actionable genomic alterations and to identify drivers of metastatic disease progression. We observed a high degree of discordance of actionable genomic alterations, with 23% discordant between primary and metastatic disease sites. Among chromatin-modifying genes, ARID1A mutations, when discordant, were exclusive to the metastatic tumor samples. Our findings indicate that the high degree of lesion-to-lesion genomic heterogeneity may be a barrier to precision oncology approaches for bladder cancer and that circulating tumor DNA profiling may be preferred to tumor sequencing for a subset of patients.

Peripapillary and macular retinoschisis - A vision-threatening sequelae of advanced glaucomatous cupping.

PURPOSE: To present a selected case series of advanced glaucoma-associated peripapillary and macular retinoschisis and response to various treatment strategies with a comprehensive literature review. METHODS: Retrospective observational case series. Retrospective review of five selected cases of advanced glaucoma with peripapillary and macular retinoschisis. RESULTS: All five patients had advanced glaucomatous damage with macular and peripapillary retinoschisis, three (patients 2, 3, and 5) had a neurosensory detachment of the macula. Increased intraocular pressure was managed with maximal antiglaucoma medications and G6 micropulse diode laser treatment in the first patient, transscleral diode laser in the second patient, mitomycin-C augmented trabeculectomy in the third patient, maximal antiglaucoma medications alone in the fourth patient, pars plana vitrectomy followed by trabeculectomy in the fifth patient. CONCLUSION: We speculate that peripapillary and macular retinoschisis may indicate a vision-threatening sequelae of advanced glaucoma. The probable inciting factor for this vision-threatening pathology being elevated intraocular pressure, fluctuations in intraocular pressure, and chronic glaucoma with advanced cupping. We emphasize that meticulous examination of the macula in patients with advanced glaucoma is mandatory. It is imperative to do OCT macula in patients with advanced glaucoma to diagnose this distinct entity at an earlier stage and preserve the existing visual potential.

Telemedicine in diabetic retinopathy screening in India.

With ever-growing prevalence of diabetes mellitus and its most common microvascular complication diabetic retinopathy (DR) in Indian population, screening for DR early for prevention of development of vision-threatening stages of the disease is becoming increasingly important. Most of the programs in India for DR screening are opportunistic and a universal screening program does not exist. Globally, telemedicine programs have demonstrated accuracy in classification of DR into referable disease, as well as into stages, with accuracies reaching that of human graders, in a cost-effective manner and with sufficient patient satisfaction. In this major review, we have summarized the global experience of telemedicine in DR screening and the way ahead toward planning a national integrated DR screening program based on telemedicine.

Identification of risk factors for targeted diabetic retinopathy screening to urgently decrease the rate of blindness in people with diabetes in India.

PURPOSE: There is an exponential rise in the prevalence of diabetes mellitus (DM) in India. Ideally all people with DM should be periodically screening for diabetic retinopathy (DR) but is not practical with current infrastructure. An alternate strategy is to identify high-risk individuals with vision-threatening diabetic retinopathy (VTDR) for priority screening and treatment. METHODS: We reanalyzed four population-based studies, conducted in South India between 2001 and 2010, and reclassified individuals above 40 years into known and newly diagnosed diabetes. Multiple regression analysis was done to identify risk factors in people with known and new DM. RESULTS: The prevalence of DR in 44,599 subjects aged ≥40 years was 14.8% (18.4 and 4.7% in known and new DM, respectively), and the prevalence of VTDR was 5.1%. Higher risk factors of VTDR were older age >50 years, diabetes duration >5 years, and systolic blood pressure >140 mm Hg. Targeted screening of people with diabetes using high-risk criteria obtained from this study was able to detect 93.5% of all individuals with VTDR. CONCLUSION: In a limited resource country like India, a high-risk group-based targeted screening of individuals with DM could be prioritized while continuing the current opportunistic screening till India adopts universal screening of all people with DM.

De Novo Simulation of Charge Transport through Organic Single-Carrier Devices.

In amorphous organic semiconductor devices, electrons and holes are transported through layers of small organic molecules or polymers. The overall performance of the device depends both on the material and the device configuration. Measuring a single device configuration requires a large effort of synthesizing the molecules and fabricating the device, rendering the search for promising materials in the vast molecular space both nontrivial and time-consuming. This effort could be greatly reduced by computing the device characteristics from the first principles. Here, we compute transport characteristics of unipolar single-layer devices of prototypical hole- and electron-transporting materials, N,N'-di(1-naphthyl)-N,N'-diphenyl-(1,1'-biphenyl)-4,4'-diamine (α-NPD) and 2,2',2″-(1,3,5-benzinetriyl)-tris(1-phenyl-1-H-benzimidazole) (TPBi) using a first-principles multiscale approach that requires only the molecular constituents and the device geometry. This approach of generating a digital twin of the entire device can be extended to multilayer stacks and enables the computer design of materials and devices to facilitate systematic improvement of organic light-emitting diode (OLED) devices.

Quantification of relative afferent pupillary defect by an automated pupillometer and its relationship with visual acuity and dimensions of macular lesions in age-related macular degeneration.

PURPOSE: The occurrence of relative afferent pupillary defect (RAPD) secondary to optic nerve diseases and widespread retinal disorders is well established. However, only very few reports of RAPD in macular disorders exist in the literature. In this study, we used automated pupillometer to evaluate RAPD in eyes with macular lesions. METHODS: It was a prospective cross-sectional study. A total of 82 patients with choroidal neovascular membrane (CNVM) - 65 unilateral and 17 bilateral macular lesions - were enrolled. RAPD was assessed with an automated pupillometer and macular lesions evaluated with optical coherence tomography (OCT). The length of the ellipsoid zone disruption was measured as the longest length of lesion on the horizontal raster scans and the area of macular lesion was measured manually, mapping the affected area of ellipsoid zone on the enface images. RESULTS: : RAPD scores showed good correlation with the intereye difference in length of maximum ellipsoid zone disruption (r-value = 0.84, P value <0.001) and macular lesion area as measured on OCT in all unilateral cases (r-value = 0.84, P value <0.001). Best-corrected visual acuity was also found to have a significant correlation with lesion size on the OCT as well as the length of ellipsoid zone disruption in unilateral cases. CONCLUSION: : RAPD evaluated with an automated binocular pupillometer is a noninvasive and objective method to assess macular lesions in CNVMs; it shows good correlation with structural lesion dimensions on OCT in unilateral cases. Further longitudinal studies are needed to assess the significance of these findings in disease progression as well as correlation with lesion response to treatment.

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann-Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal storage disease. The knowledge of variant spectrum in Indian patients is crucial for early and accurate NPD diagnosis and genetic counseling of families. In this study, we recruited 40 unrelated pediatric patients manifesting symptoms of ASMD and subnormal ASM enzyme activity. Variations in SMPD1 were studied using Sanger sequencing for all exons, followed by interpretation of variants based on American College of Medical Genetics and Genomics & Association for Molecular Pathology (ACMG/AMP) criteria. We identified 18 previously unreported variants and 21 known variants, including missense, nonsense, deletions, duplications, and splice site variations with disease-causing potential. Eight missense variants were functionally characterized using in silico molecular dynamic simulation and in vitro transient transfection in HEK293T cells, followed by ASM enzyme assay, immunoblot, and immunofluorescence studies. All the variants showed reduced ASM activity in transfected cells confirming their disease-causing potential. The study provides data for efficient prenatal diagnosis and genetic counseling of families with NPD type A and B.

Clinical characteristics of morning glory disc anomaly in South India.

PURPOSE: Reports of morning glory disc anomaly (MGDA) in India have mostly been case reports. The aim of this study was to describe the demographic and clinical profile of patients with MGDA in South India. MATERIALS AND METHODS: A retrospective review of the medical records of patients with MGDA seen at a tertiary eye hospital in South India over a period of 8 years was carried out. The patients' demographic and clinical data were extracted from the case files and were entered into Epi Info reporting software version 7.2.3.0 and then analyzed. RESULTS: There were 51 eyes of 44 patients with MGDA comprised 25 (56.8%) males and 19 (43.2%) females. Seven (15.9%) patients had bilateral MGDA. The mean age for females was 5.8 years (standard deviation [SD]: 5.8) and for males, 11.2 years (SD: 12.1). This difference was not statistically significant with a P = 0.07. The most common ocular associations were strabismus, refractive error, and retinal detachment, whereas the most common systemic associations were cleft lip and cleft palate. Fifty-one percent of eyes were blind at presentation. CONCLUSION: Patients with MGDA in India tend to present late with poor visual prognosis. Early diagnosis and prompt treatment of blinding complications are crucial in reducing the risk of irreversible visual loss. Associated systemic abnormalities highlight the importance of a multidisciplinary approach in the management of patients with this condition.

Incidence and Outcomes of Suprachoroidal Hemorrhage Following Aurolab Aqueous Drainage Implant in Adult and Pediatric Glaucoma.

PRCIS: Postoperative suprachoroidal hemorrhage (PSCH) is an infrequent but devastating complication after nonvalved aqueous drainage implant surgery and demonstrated a bimodal distribution. The final outcomes of either conservative management or surgical drainage of the hemorrhage remained poor. PURPOSE: The aim was to report the incidence and outcomes of eyes developing PSCH after undergoing Aurolab aqueous drainage implant (AADI) surgery for adult and pediatric refractory glaucomas. MATERIALS AND METHODS: In this retrospective series, case files of all patients who underwent AADI between May 2012 and December 2019 were retrieved from an electronic database. A PSCH was defined as the presence of hemorrhagic choroidal detachment, confirmed by ultrasound B scan, occurring in a closed system in the postoperative period. RESULTS: Of the 986 eyes that underwent AADI during the study period, 7 (0.7%), developed PSCH (95% confidence interval=0.3-1.6%). There were no differences in the preoperative parameters between those with and without PSCH. Of these, 4 were seen in pediatric eyes (4/288, 1.4%) and 3 in adult eyes (3/698, 0.4%) (P<0.01). Four eyes (57%) had PSCH in the immediate postoperative period (ie, between 24 and 48 h of AADI surgery), while the remaining 3 had onset ranging from 6 to 7 weeks after surgery. Anatomic risk factors were present in all eyes including hypotony (n=4), myopia (n=3), microcornea (n=2), microphthalmos (n=1), postvitrectomy (n=1), and staphyloma (n=1). Visual acuity improved in only 1 (14%) eye while 3 (43%) eyes developed phthisis bulbi, all in the pediatric age group. CONCLUSIONS: PSCH is a rare complication following AADI and is seen in <1% eyes. The incidence is higher in the pediatric age group. Visual and anatomic outcomes are dismal following PSCH with globe salvage possible in only about half these eyes.

Imaging of Muller cell sheen dystrophy.

To report a rare case of Muller cell sheen dystrophy and to describe its clinical and diagnostic aspects. A 42-year-old woman presented with unilateral defective vision. Fundus evaluation revealed bilateral glistening retinal reflexes throughout the posterior pole with a wrinkled appearance in the right. Spectral Domain-OCT in the right showed abnormal internal limiting membrane, intraretinal schisis with serous detachment at macula. Angiography revealed staining along vessels. Electroretinogram in the affected eye was negative. At 4 months of follow up, vision dropped and intraretinal schisis increased. Family screening was negative.

Bullous Central Serous Chorioretinopathy Associated with Retinal Pigment Epithelial Tear.

Bullous retinal detachment (RD) is a rare manifestation of chronic central serous chorioretinopathy and may be associated with an underlying retinal pigment epithelial (RPE) tear. It may be confused with rhegmatogenous RD or serous RD from conditions such as Harada disease. Appropriate diagnosis is essential as this may prevent unnecessary surgery or treatment with medication that may worsen the condition. We present the case of a young male Indian patient with unilateral bullous RD and a tentative diagnosis of rhegmatogenous RD. He underwent RD surgery, however a large RPE tear was discovered intraoperatively.

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.