South Indian Patients Research Articles

OSSN in South India: Clinical presentation, treatment outcomes, and histopathologic correlations.

This study aimed to analyze the clinical presentation, treatment outcomes, and histopathology features of ocular surface squamous neoplasia (OSSN) in a South Indian population and correlate the area of lesions to the histopathological grade/severity of carcinoma in situ (CIN) and squamous cell carcinoma (SqCC) invasive and noninvasive tumors. The study was a retrospective cross-sectional study. The study reviewed electronic medical records (EMRs) of 99 eyes of 99 South Indian patients who underwent en bloc excision and biopsy for tumors in the corneal and conjunctival epithelium with suspicion of OSSN over 1 year from January 2019 to December 2019. Postoperatively, patients were treated with three cycles of topical 0.04% mitomycin C eye drops. Sixty-three had requisite EMR data with a follow-up period of 1 year. Patients had equal gender distribution with an age range of 28-83 years. The most common clinical variant was leukoplakic lesion, and the area of the lesion was the only predicting factor for SqCC and CIN. Bigger (T2) lesions should be strongly suspected for OSSN and promptly excised. Histopathologic analysis should be performed, and post-op topical mitomycin C or interferon alpha 2b is administered to avoid recurrence. In this study, by correlating the area of the lesion, we introduce a new variable that may aid in clinical prognostication alongside the AJCC classification.

Knowledge and self-care behavior among heart failure patients in South India

BACKGROUND: Heart failure (HF) is a chronic condition with significant public health concerns. HF necessitates adequate knowledge and adherence to self-care for enhanced quality of life and decreased rehospitalization. This study aimed to explore knowledge and self-care behavior in patients with HF. MATERIAL AND METHODS: The study was conducted in cardiology wards of a tertiary care hospital and the design was a randomized controlled trial. The baseline data (before the intervention) from 160 HF patients enrolled in a randomized controlled trial were analyzed. Knowledge and self-care behavior were measured using the Dutch HF Knowledge Questionnaire (score ranging from 0 to 15) and European HF Self-care Behavior Scale-9 (score ranging from 0 to 100). Higher scores indicated better self-care behavior and knowledge. Descriptive statistics such as frequency, percentage, mean, and standard deviation and inferential statistics such as independent sample t-test and ANOVA were performed. RESULTS: The majority (75.0%) were men with a mean age of 56.1 ± 7.9 years. A significant proportion had hypertension (65%), diabetes (58.7%), or both comorbidities (40.6%). Most exhibited a left ventricular ejection fraction <30% (60.6%) and New York Heart Association class II (43.1%). The mean knowledge and self-care behavior scores were 7.1 ± 2.0 and 45.0 ± 12.4, respectively. Over half of the participants had inadequate self-care behavior (51.2%), and 88.3% lacked sufficient knowledge about HF. Medication adherence was high (87.0%) among the participants, while only 3.1% reported regular weight monitoring and 32.3% exercised regularly. CONCLUSIONS: There was a lack of HF-related knowledge and inadequate self-care behavior for HF management. Effective interventions to improve disease-related knowledge may lead to better self-care behavior and improve clinical outcomes.

Association of MnSOD, CAT, and GPx1 Gene Polymorphism with Risk of Diabetic Nephropathy in South Indian Patients: A Case-Control Study.

Diabetic nephropathy (DN) is one of the common complications of type 2 diabetes mellitus (T2DM), and oxidative stress plays a key role in the pathogenesis of DN. Studies have demonstrated that antioxidants (MnSOD, CAT, and GPx1) may reduce the complications associated with T2DM. The purpose of the study is to correlate the role of antioxidant gene polymorphisms in the pathogenesis of DN among T2DM individuals in the South Indian population. It clarifies the importance of early manifestation and reliable genetic indicators modulating the oxidative stress mechanism in DN.The study participants were divided and grouped as Group 1: Control, Group 2: T2DM without DN, and Group 3: T2DM with DN (n = 100 in each group). The levels of plasma glucose, HbA1c, renal profile, SOD, CAT, GPx1, MDA, and TAS were assessed. MnSOD (rs4880), CAT (rs1049982), and GPx1 (rs1050450) polymorphisms were genotyped via Tetra-arms PCR.The genotypes of GPx1 depict a significant role in the progression of DN in T2DM patients (co-dominant [OR: 2.134; 95% CI (1.202-3.788), p < 0.01], dominant [OR: 2.015; 95% CI (1.117-3.634), p = 0.02], and recessive model [OR: 2.215; 95% CI (1.235-3.972), p = 0.008]); whereas rs4880 and rs1049982 polymorphisms are not associated with DN progression. As a result, GPx1 (rs1050450) polymorphism could be a diagnostic risk factor for developing DN in T2DM patients. Moreover, the genotypes of rs4880 and rs1049982 polymorphism show significant difference in the antioxidant parameters compared to the genotypes of rs1050450.In contradiction to earlier studies, the current study demonstrates that the genotypes of rs1050450 (GPx1) can be considered as an influential component for higher susceptibility and risk of developing DN in T2DM patients among the South Indian population.

Biologics in ocular inflammatory diseases - Experience from a tertiary referral eye care center in South India.

To analyze the utility of biologics in noninfectious uveitis and other ocular inflammatory diseases in a South Indian patient population. This was a retrospective observational study conducted at the uveitis and ocular inflammatory diseases clinic of a tertiary eye care hospital in South India between 2016 and 2023. Records of 76 patients on biologics were retrieved from our databases. The mean age was 34.84 ± 17.383 years. In 75% of patients, the duration of follow-up was 52.75 months. Overall, anterior nongranulomatous uveitis was the most common anatomic type of uveitis (34.21%). HLA B27-associated uveitis was the most common etiology (34.21%) in whom biologics were used. Patients <18 years of age formed 23.7% with a mean age of 10.77 ± 2.75 years. Mean duration of follow-up in patients <18 years of age was 36 months. In this subgroup, panuveitis was the most common anatomic subtype (61.1%) and juvenile idiopathic arthritis was the most common etiology (27.7%). The most commonly used biologic in this study was adalimumab (36.84%). Additional conventional immunomodulators were used along with biologics in 50 patients (65.78%), of which methotrexate was the most common (50%). Adalimumab and rituximab were biosimilars, while tofacitinib was the generic version. There was a significant decrease in the mean number of flareups post-biologics (P = 0.001). Adverse effects were seen in 14 patients (18.42%). The success rate of biologics was low in the parsplanitis group <18 years (33.3%), Blau-associated uveitis (50%), and idiopathic uveitis (30%). In this study, we have analyzed the results of biologics in different anatomic types of ocular inflammation and etiologies. The success rate of biologics was low in parsplanitis, idiopathic uveitis, and Blau-associated uveitis and higher in other etiologies.

Prevalence and Risk Factors of Psychiatric Symptoms among Type 2 Diabetes Mellitus Patients in South India: A Cross-Sectional Study.

Background: Type 2 diabetes mellitus poses a momentous challenge when accompanied by psychiatric symptoms like depression, anxiety, and stress, adding to the complaint's threat. Research on these factors in patients with uncontrolled chronic illnesses in India, particularly in Tamil Nadu, is limited. Hence, this study aims to determine the prevalence and risk factors of these psychiatric symptoms among Type 2 diabetes patients.  Methods: A cross-sectional study was conducted in Alpha Hospital and Research Center in Madurai, South India, from April 2020 to March 2021, enrolling 614 participants (307 with Type 2 diabetes mellitus and 307 general population). Data were collected using Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale and Perceived Stress Scale. The IBM SPSS version 23 was used for statistical analysis.  Results: Two-thirds of youth women with type 2 diabetes have higher fasting blood sugar levels than men when compared to general population. 82.61% of patients with uncontrolled diabetes developed severe stress, surpassing those with well-controlled and pre-diabetes. Severe depression is most prevalent among patients with neuropathic foot ulcers (54.76%) and nephropathy (61.54%). Predominant mental health risk factors include being single, high school education, poor glycemic control, comorbid hypertension, and family history. Interestingly, lifestyle factors like alcohol use and smoking positively impact mental health outcomes.  Conclusion: This study shows the intricate connection between Type 2 diabetes and mental health problems in Madurai, emphasizing the necessity for a multidisciplinary strategy to enhance outcomes and reduce financial burden. Future research in nursing has to focus on implementing and assessing therapies aimed at reducing patients' stress, anxiety and depression.

Ophthalmological Examination and Imaging Features that Better Predict Risk of Angle Closure in Siblings

Characteristics of individuals with angle closure may be useful in targeted screening of family members. Here, we assess if findings gathered during examination and imaging of patients with a known angle closure diagnosis (probands) could better determine the risk of angle closure in the patients' siblings. Cross-sectional study of patients with known angle closure and their siblings. Participants, and Controls: South Indian patients (probands) 30 years and older with open angles, suspect primary angle closure (PACS), or primary angle closure/primary angle closure glaucoma (PAC/PACG), and a biological sibling age 30 years or older (n=292 proband/sibling pairs). Demographic data, relevant ocular history, and a comprehensive ophthalmic examination with Anterior Segment Optical Coherence Tomography (ASOCT) were obtained. Three clinically relevant models were created to analyze the contribution of specific proband factors in predicting sibling angle closure diagnosis, using demographic (age, gender), ocular exam (gonioscopy, optic nerve exam, visual acuity, intraocular pressure [IOP]), and ASOCT features to improve prediction beyond proband diagnosis alone evaluated by log likelihood ratio testing and statistical comparison of receiver operating characteristics (ROC). Sibling angle closure diagnostic accuracy. Demographic and ocular exam metrics did not improve the prediction of sibling angle closure for all three outcomes (sibling diagnosis: (1) PACS/PAC/PACG vs OA, (2) PAC/PACG vs PACS/OA, and (3) PAC/PACG vs PACS), adding no model improvement when compared to diagnosis alone. Models adding ASOCT metrics to the prior model including proband diagnosis, demographics and ocular exam measures led to significantly improved prediction of 2 of the 3 angle closure outcomes. Specifically, improvement was noted via likelihood ratio testing for prediction of PAC/PACG vs PACS/OA (p=0.01), or PAC/PACG vs PACS (p=0.001). For all 3 angle closure outcomes, ROC comparisons demonstrated significant improvement in AUC between the three models predicting sibling outcomes, demonstrating an increase in AUC with each successive nested model across all 3 sibling angle closure outcomes. Structural features of eyes with angle closure may assist in stratifying the risk of angle closure in patients' siblings. Further studies should consider evaluating this approach to achieve more targeted screenings.

Association of macular pigment optical density with plasma macular carotenoids levels and serum lipids in South Indian healthy volunteers and patients with early age-related macular degeneration.

Purpose: The objective of the present study was to investigate the relationship between macular pigment optical density (MPOD) and plasma carotenoids [(L) and (Z)] and serum lipids in South Indian young healthy volunteers and patients with early age-related macular degeneration (AMD). Methods: Two hundred and fourteen (N = 214) study participants (Healthy control group (N) = 178; Early AMD group (N) = 36) were enrolled after getting their written informed consent. The MPOD of the study participants was assessed using MPS II (Electron Technology, UK) after completing their routine ocular examination. Serum lipids were measured by the standard technique. Plasma levels of L, Z, lycopene and beta-carotene were estimated by high performance liquid chromatography with photo diode array detector. Statistical analysis used: Correlations among variables in serum, plasma and the MPOD were established using Spearman's rho correlation coefficient. Results: The overall mean MPOD in healthy control group and early AMD group were found to be 0.47 ± 0.16 (N = 178; 317 eyes) and 0.35 ± 0.22 (N = 36; 38 eyes) at 1° eccentricity respectively and were found to be statistically significant (p < 0.001). A strong positive association was found between plasma L, Z and L + Z and MPOD. Serum HDL showed a strong negative association with MPOD and other lipids showed a very weak association. MPOD was unaffected by body mass index. Conclusions: MPOD is positively associated with plasma L,Z and L + Z, adding further evidence that additional intake of L/Z may be beneficial in delaying the risk of AMD in our population.

Correlation between body mass index and functional outcome of total knee replacement for osteoarthritis of knee- a prospective study on South Indian cohort

BackgroundOver the past 20 years, there has been an increase in demand for complete knee replacements, and this trend is predicted to continue. It has been shown that being overweight is a risk factor for knee osteoarthritis. There are only a few studies on this in India and none on South Indian patients, Therefore, our goal was to evaluate how BMI affected functional outcomes after primary total knee replacement. ObjectivesTo determine the impact of body mass index (BMI) on functional outcomes after primary total knee replacement. Methodology: Patients who underwent total knee replacement between November 2021 and November 2023 were included in the study. Patients were divided into groups based on BMI. Group I patients have a BMI less than 25, and group II patients of BMI greater than 25. International Knee Society scoring(IKSS) is used to assess patients Preoperatively and postoperatively. ResultsOut of 185 patients, 70 were males and 115 were females. When IKSS scores were analyzed the mean Knee score before surgery in Group 1 was 24.58 and in Group 2 it was 16.64. After 1 year follow up the mean scores were 68.5 and 57.5 respectively. When analyzed with functional score the pre-op scores for groups 1 and 2 were 32.58 and 23.44 respectively and post-op scores after one-year follow-up were 71.17 and 51.7 respectively. ConclusionBMI does have a positive correlation with both preoperative and postoperative scores. A weight-loss programme can be discussed with the patients presenting the results of this study.

Survival Outcomes of Breast Cancer Patients in South India Over 20 Years.

The study aimed to investigate the distribution and clinicopathologic features of breast cancer patients in South India, while also examining the overall survival (OS) and identifying predictive factors affecting it. Additionally, we aimed to assess the influence of risk factors on Disease Free Survival (DFS) and Distant Disease-Free Survival (DDFS). This retrospective cohort study on breast cancer trends used comprehensive follow-up including regular patient contact, medical record review and collaboration with healthcare providers. Patients without follow-up information for more than 12 months were contacted by telephone, while those with no follow-up after 2 years were labelled as lost to follow-up. A total of 3256 patients were identified from a single cancer institute in India. The median follow-up time was 8.1 years. The 5-year survival rates were 89%, 84%, 85%, 88% and 10-year were 82%, 78%, 79%, 83% for luminal cancers, Triple Negative Breast Cancers, HER2 enriched and luminal with HER2 enriched respectively. Poorer survival rates were seen among those with pT3/4 tumors, nodal involvement at diagnosis, Estrogen receptor negative status, high Ki67 proliferative index and higher TNM stage at diagnosis of the disease. Although our patients were younger and had more aggressive types of cancer, their DFS, DDFS and overall survival were comparable to other developed nations.

Association of vitamin D status and vitamin D receptor polymorphism in diabetic foot ulcer patients: A prospective observational study in a South-Indian tertiary healthcare facility.

Objective of the study was to find the association of vitamin D receptor (VDR) polymorphisms (Fokl, Taql and Apal) with vitamin D levels in diabetic foot ulcer (DFU) patients in South India. In this case-control study, plasma vitamin D levels and VDR genotype frequencies of 70 cases (DFU patients) were compared with 70 diabetic (diabetes mellitus [DM] [non-DFU]) patients and 70 apparently healthy controls (HC) from South India. Plasma vitamin D levels were measured using the ELISA technique, and genotyping of VDR polymorphisms was carried out using real-time polymerase chain reaction. Logistic regression was used to find the association between DFU versus HC and DFU versus DM traits. Association analysis was performed based on additive, dominant and recessive models with age and gender as covariates. A 45.7% of DFU patients have sufficient vitamin D levels than 48.6% and 40% of DM patients and HC, respectively. Linkage disequilibrium analysis for DFU versus HC and DFU versus DM traits shows that single nucleotide polymorphisms (SNPs) Taq1 (rs731236) and Apal (rs7975232) are in strong linkage disequilibrium in DFU patients. The alleles and genotype frequencies were similar in all three groups. Although the additive model does not show statistical significance, age and sex correlate with the three SNPs (Fokl, Taql and Apal). No association was found between VDR gene polymorphisms and vitamin D levels in DFU patients in Southern India. On the other hand, age and sex correlate with the three SNPs.

Impact of immune-supplementation on muscle health and inflammation status of South Indian patients who have undergone gastrointestinal resection: a pilot randomized-controlled study

Impact of immune-supplementation on muscle health and inflammation status of South Indian patients who have undergone gastrointestinal resection: a pilot randomized-controlled study

Ethnic Differences, Lung Cancer Risk, and Association of NRF2 Gene Polymorphism with Gemcitabine-Based Chemotherapy.

The cancer burden is rising every year. Lung cancer is one of themost common cancers and non-small cell lung cancer is the most common type. Chemotherapy based on platinum drugs and third-generation nucleoside anti-metabolites such as gemcitabine are used widely. Gemcitabine has a complex metabolic pathway, with many mechanisms contributing to its cytotoxicity. Derangements in the metabolic pathway genes contribute to drug resistance and toxicity with this drug. Association studies including these genetic polymorphisms in the metabolic pathway, clinical outcomes, and cancer risk reported inter-individual differences. Thus, the aim of this study was to ascertain the role of these genetic variants in South Indian cancer patients treated with gemcitabine-based therapy. The study was done with 184 healthy volunteers for frequency establishment and 123 cancer patients were treated with gemcitabine-based chemotherapy for response and toxicity assessment. The participants were aged 18-65 years and resided in the southern states of India. DNA extraction was done from the leukocyte fraction of the blood by phenol-chloroform extraction procedures and genotyping was done by reverse transcription-polymerase chain reaction (RT-PCR) techniques to identify DNA repair gene polymorphisms. Tumor response was determined using Response evaluation criteria in solid tumors (RECIST) guidelines and toxicity using Common Terminology Criteria for Adverse Events (CTCAE), version 4.03. The patients were followed up for survival analysis. The minor allele frequency of the single nucleotide polymorphism (SNP) NRF2-617 C>A (rs6721961) in the healthy population was 12.8%. SNPs were in Hardy-Weinberg equilibrium (p>0.05). Gender-based differences were not observed with the studied SNP in the healthy population and the lung cancer patients. These frequencies of NRF2 were found to be similar when compared to EUR (European) and all the South Asian subpopulations. They are significantly divergent compared to AFR (African), AMR (American), and EAS (East Asian) populations. The minor allele frequency in cancer patients was found to be 14.2% and the lung cancer risk with the SNP studied could not be detected. There was no association found with the response, toxicity, and survival among lung cancer patients. NRF2, being a multifaced molecule, did not showa significant association with lung cancer risk, response, and toxicity in patients with gemcitabine-based chemotherapy.

Prediction of Warfarin Dosage Based on Genotype (VKORC1) – 1639 G&gt;A – rs9923231 In South Indian Populations

Background: Venous thromboembolism (VTE), characterized by thrombus formation in veins, ranks as the third most prevalent vascular disease globally after myocardial infarction (MI) and stroke. Deep vein thrombosis (DVT) and pulmonary embolism (PE) are common clinical manifestations of VTE, with potentially fatal consequences. In this study, the mean daily warfarin dose using VKORC1 (-1639 G&gt;A) rs9923231 genotyping will be established in order to categorize warfarin treatment into high, moderate, and low-dose groups within the South Indian population. Methods and Materials: A cohort of 192 patients was enrolled, and genotyping was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: In our study sample, the A allele frequency was 23.9%, and the AA genotype frequency was 12.5%. The mean daily doses required by AA homozygous (1.54 ± 1.05 mg/day) and GA heterozygous (2.93 ± 2.03 mg/day) genotype carriers were considerably lower to attain the optimal international normalized ratio (INR) than those of GG genotype carriers (4.07 ± 1.75 mg/day), with a p-value of 0.866. Conclusion: Our findings strongly advocate for incorporating VKORC1 polymorphism analysis in South Indian patients with DVT to guide the initial warfarin dosage genetically.

The Role of Circulating MicroRNAs in the Prediction of Response to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer in the Indian Population.

MicroRNAs (miRNAs) are known to play an important role in cancer cell proliferation, susceptibility of cancer cells to chemotherapy, and patient survival. Identifying miRNAs that can predict response to chemotherapy in locally advanced breast cancer (LABC), the most common variant, can help to choose appropriate drug regimensto suit the epigenetic profile of individual patients. To investigate the expression of the differentially expressed miRNAs identified by next-generation sequencing from a pilot study involving cases and controls, in peripheral blood mononuclear cells (PBMC) of patients with LABC during the course of neoadjuvant chemotherapy (NAC) and determine their role in response to chemotherapy. This study included 30 newly diagnosed LABC patients. Peripheral blood from every participant was collected before the start of chemotherapy, at the end of the third cycle, and at the end of the seventh cycle of NAC. Based on the results of a pilot study in a similar population with suitable controls, four differentially expressed miRNAs namely miR-24-2, miR-192-5p, miR-3609, and miR-664b-3p were considered to be validated in this study. The expression of these four miRNAs was examined by qRT-PCR, and their association with response to chemotherapy was analyzed. A significant change in the expression of miR-192-5p was found in responders (p = 0.001) over a period of seven cycles and the difference between the expression of miR-24-2 from baseline to the seventh cycle of NAC was higher in responders while compared to the non-responders (p < 0.05). miR-192-5p and miR-24-2 were identified as predictive biomarkers for response to NAC in south Indian patients with LABC.

Olfactory and Gustatory Symptoms in COVID-19 Patients in South India

Olfactory and Gustatory Symptoms in COVID-19 Patients in South India

A Validation Study of Non-invasive Scoring Systems for Assessing Severity of Hepatic Fibrosis in a Cohort of South Indian Patients With Non-alcoholic Fatty Liver Disease

IntroductionLiver biopsy is the gold standard for diagnosing and staging NAFLD. But liver biopsy has its limitations. Non-invasive tests (NITs) eliminate many of the drawbacks of liver biopsy. We did a retrospective observational study to validate the non-alcoholic fatty liver disease Fibrosis Score (NFS score) and Fibrosis Score 4 (FIB-4 index) against the gold standard liver biopsy in a cohort of south Indian patients with NAFLD. Material and MethodsA retrospective observational analytical study of patients who had a liver biopsy with a diagnosis of NAFLD and had all the data for aetiology assessment and NIT calculation within 4 weeks of biopsy were included in the study. On liver biopsy NAFLD was scored as per NIH’s NASH committee (NASH CRN) grading system. NAFLD Fibrosis Score (NFS) and FIB-4 index were calculated and scores more than 0.676 and 2.67 respectively was taken as the cut-off to predict advanced fibrosis. The sensitivity, specificity, positive predictive value, negative predictive value and area under the ROC curve for NFS score and FIB-4 score to diagnose advanced fibrosis were calculated. ResultsA total of 147 patients were included in the study. Of these 56 (38.1%) patients had advanced fibrosis (Stage 3, 4). Patients with advanced fibrosis were more likely to be older and have DM. Patients with advanced fibrosis had lower platelet count, higher AST, lower albumin and higher AST/ALT ratio. The NFS of > 0.676 had a sensitivity of 68% and specificity of 100% and FIB-4 index of >2.67 had a sensitivity of 67% and specificity of 95.6 % in diagnosing advanced fibrosis in our study. ConclusionThe non-invasive scoring systems NAFLD Fibrosis Score (NFS) and FIB-4 index, can be used as a bedside tool for diagnosing Liver fibrosis in NAFLD allowing liver biopsy to be used in a more targeted manner for patients diagnosed with advanced fibrosis on NITs.

True exfoliation of the lens capsule: A case series

True exfoliation syndrome is a rare condition, characterized by anterior capsular delamination. It is often undetected unless an examination is performed after good mydriasis. Though historically reported in glass blowers with prolonged heat exposure, other etiologies have also been proposed in the pathogenesis. Often underreported and under-detected, this can lead to capsulorrhexis complications during cataract surgery, if adequate attention is not paid to it. We report a series of true exfoliation syndrome in three South Indian patients and review the relevant literature.

Fraccaro Syndrome (49,XXXXY): Case study in antenatal and postnatal from South Indian patients, an awareness to the human society

Aim: 49, XXXXY syndrome is a rare chromosomal abnormality with an approximate incidence of 1:85000 – 1:100000. Early diagnosis is important to improve the quality of life of patient. This study was carried out to assess the chromosomal abberations in prenatal and postnatal sample of patients through cytogenetics study. Methodology: Sex chromosomal aneuplodies were performed in both amniotic fluid and peripheral venous blood samples. Cytogenetic studies such as Karyotyping was done in in-vitro culture cells by GTG banded metaphase slides. FISH test was conducted in raw sample to rule out low grade mosaicism and DNA isolated from both the samples to rule out the gain and loss of genes by Chromosomal microarray technique. Results: The two cases performed showed aneuploidy with pentasomy sex chromosomes in Karyotyping in all the metaphase analysed and FISH test resulted with five signals in sex chromosome with four copies of X chromosomes and one copy of Y chromosome in all the cells. There was no loss of genes and only gain of genes in X chromosomes as identified in Chromosomal microarray. Interpretation: Based on the findings, antenatal screening is essential and should not be avoided for any USG findings and biochemical screening. The test should not be limited only to trisomy studies. Extensive studies should be performed to rule out the genetic disorders. Chromosomal aneuploidies can be identified by cytogenetic studies like Karyotyping, FISH and Chromosomal microarray technique. Key words: Aneuploidy, Chromosomal microarray analysis, Cytogenetics, Fraccaro syndrome, Karyotyping, Pentasomy sex chromosome

Clinicoradiological features of cerebral microbleeds diagnosed on magnetic resonance neuroimaging.

Cerebral microbleeds (MBs) are recently described entity on magnetic resonance (MR) neuroimaging and are considered one of the markers of small vessel disease. We aimed to study the clinicoradiological features of cerebral MBs that were diagnosed in MR neuroimaging. We studied 109 South Indian patients, who presented to a tertiary care institution for MR neuroimaging with cerebral MBs as diagnosed on MR neuroimaging based on either the gradient T2* imaging or susceptibility-weighted imaging. The clinical details and coexisting MR features of infarcts, macrohemorrhages, lacunar infarcts, and white matter leukoaraiosis were evaluated and analyzed. Of 109 patients, 79 were males and 30 were females. Associated clinical comorbidities noted include hypertension (62.39%), diabetes (23.85%), and alcoholism (31.19%) apart from the history of anti-platelet/anti-coagulant usage (15.5%), previous cardiac disease (12.84%), and previous stroke/transient ischemic attacks (9.17%). Other co-existing neuroimaging abnormalities noted include cortical infarcts (27.52%), old hemorrhages (29.36%), lacunar infarcts (56.88%), and white matter leukaraiosis (67.89%). The clinicoradiological features of cerebral MBs in South Indian patients are similar to other Asian and Western studies with significant coexistence of clinical comorbidities and imaging features of small vessel changes. Further studies with a larger sample are needed to correlate the grade of MBs to the individual risk of these clinicoradiological characteristics.

Association of eGFR with stages of diabetic retinopathy and age-related macular degeneration in Indian population.

To investigate the influence of glomerular filtration rate in renal disease decline and its association with diabetic retinopathy (DR) and age-related macular degeneration (ARMD) in patients in South India. A population-based cross-sectional study was conducted including participants with DR and ARMD recruited from urban and rural populations. The data collection included medical history, anthropometric measurements, and ophthalmic work-up. The estimated glomerular filtration rate (eGFR) was calculated using the equation of chronic kidney disease-epidemiology collaboration (CKD-EPI). The grading of AMD was done by a single experienced (more than 5 years) vitreoretinal surgeon as per the International ARM Epidemiological Study Group and it was staged based on grading in the worsened eye. A decline in eGFR was observed as the severity of DR increased ( P < 0.001). Baseline characteristics such as age ( P < 0.001), duration of diabetes ( P < 0.001), gender ( P < 0.001), creatinine ( P < 0.001), albumin to creatinine ratio (ACR; P < 0.001), albuminuria ( P = 0.023), blood urea ( P < 0.001), and high-density lipoprotein (HDL; P = 0.003) were found to be statistically significant. The risk for developing DR with CKD was found to be 5 times higher in male patients compared to female patients. Age and high blood urea level, diastolic blood pressure, mild and moderate DR were the risk factors associated with CKD. A decline in eGFR was observed as the severity of ARMD increased ( P < 0.001). The risk factors associated with CKD were age, gender, smoking, alcohol consumed, presence of hypertension, duration of diabetes, systolic and diastolic blood pressure, history of diabetes, body mass index (BMI), serum triglycerides, and serum HDL cholesterol. Reduced eGFR values were associated with an increase in the severity of DR and ARMD.