Changes in pattern of presentation of patients with unilateral vestibular schwannoma over two decades: Influence of cell phone use in early diagnosis.

We aimed to study whether the increased use of cell phone in south Asia over the past two decades has impacted presentation of patients with vestibular schwannoma (VS). In this observational cohort study, data on cell phone use and severity of hearing loss and tumor size was collected using a questionnaire through a patient interview (n = 62) in consecutive patients with VS managed between 2017 and 2020. Association between cell phone use and severity of hearing loss and tumor size were studied and compared with our data published earlier when telephone use was not widely prevalent. 71% of the 62 patients (aged between 15 and 81 years) had large or giant VS. Pure tone audiometry showed moderately severe or profound hearing loss in77.4%. Sixty (96.7%) patients used cell phones. 50% of patients complained of difficulty in using their cell phone because of hearing loss. Compared to the earlier era, a higher proportion consulted an ENT surgeon first for hearing loss (59.7% vs 26%; p = 0.0005) and had small or medium sized tumors (29% vs 8%; p = 0.008) with a smaller mean tumor size (3.3 vs 3.9 cm; p = 0.03). Increased cell phone use has led to earlier diagnosis of VS and smaller tumours in recent years when compared to an earlier era. However, the vast majority of patients continue to present with severe to profound hearing loss and large tumors.

Reliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children.

OBJECTIVE: We studied the accuracy of the radiologic diagnosis of lateral ventricular masses in children (<20 years of age). METHODS: In this retrospective study, data were collected from children with lateral ventricular masses managed in our unit between 2001 and 2016. There were 43 patients (26 boys and 17 girls; mean age, 12.1 years; range, 8 months to 20 years). Magnetic resonance imaging was available for 36 patients, whereas in 7 patients only a contrast-enhanced computed tomography scan was available. The images were read independently by 3 radiologists, who were blinded to the pathology. Two differential diagnoses were offered for each patient. The agreement between the 3 radiologists was calculated using the Fleiss κ statistic. RESULTS: The common pathologic diagnoses were subependymal giant cell astrocytoma (SEGA) (20.9%), low-grade astrocytoma (16.3%), high-grade astrocytoma (9.3%), choroid plexus papilloma (9.3%), and meningioma (9.3%). The sensitivity, specificity, and accuracy of the radiologic diagnoses were 62%, 96.7%, and 94.2%, respectively. Low-grade tumors such as low-grade gliomas, SEGAs, choroid plexus papillomas, and meningiomas were diagnosed with a high level of accuracy. High-grade gliomas, choroid plexus carcinomas, and other malignant neoplasms were difficult to diagnose on imaging. Cavernous angiomas were also difficult to diagnose. There was only fair agreement between the 3 radiologists (Fleiss κ = 0.24). CONCLUSIONS: The pathologic spectrum of lateral ventricular tumors in children is wide, and identifying the pathology on imaging is difficult for malignant tumors. Benign tumors such as SEGAs, low-grade astrocytomas, and choroid plexus papillomas are relatively easier to diagnose. There is significant interobserver variability in the radiologic diagnosis of these tumors.

Genetic polymorphism of interleukin-18 gene promoter region in rheumatoid arthritis patients from southern India.

BACKGROUND: Interleukin-18 (IL-18) is a pro inflammatory cytokine which plays a key role in the acute and chronic inflammatory phases of Rheumatoid Arthritis (RA). The Single Nucleotide Polymorphisms (SNPs) of IL-18 gene promoter region at positions -137 and -607, are postulated to be associated with RA. To test this, this study aimed to identify the association between these SNPs of the IL-18 gene promoter region of RA in south Indian patients. MATERIALS AND METHODS: This study was carried on 190 subjects among which 90 were RA patients and 100 were age and sex matched controls. Genomic DNA was extracted by Salting out method. IL 18 gene promotor region SNPs, IL 18 - 607 and IL 18 -137 were amplified by using sequence specific primers. The amplified products of different samples were separated by using a 1.5% agarose gel, stained with ethidium bromide and photographed. All statistical analyses were carried out by using SYSTAT 12 software. RESULTS: At position 607, the frequencies of C allele, CC genotype, A allele and AA genotype were found to be significantly higher in patients and controls respectively and there was no significant difference in CA genotype. At position 137, there was no significant difference between the two groups with regard to G and C allelles but there was a significant increase in GG genotype of patients and CC genotype of controls. There was no association between duration of morning stiffness, rheumatoid factor positivity or negativity, age of onset and gender with distribution of genotypes and alleles. CONCLUSION: C allele, CC genotype at position-607 and GG genotype at position-137 are risk factors and A allele, AA genotype at position-607 and CC genotype at position-137 have protective effect for RA.

Heparin cofactor II thrombin complex as a biomarker for mucopolysaccharidosis: Indian experience.

BACKGROUND: Serum heparin cofactor II-thrombin complex (HCII-T) is an emerging biomarker for mucopolysaccharidosis disease (MPS I and MPS II). METHODS: Seventeen cases (6 MPS I and 11 MPS II) and sixty healthy controls were enrolled in study, conducted from September 2008 to December 2012. The mean ± SD age of MPS1 (n=6, 5 males) and MPS II was 7.02 ± 3.25 and 5.2 ± 2.15 years, respectively. Disease status was confirmed by clinical features and enzyme assay. Urinary glycosaminoglycans were measured in spot urine samples and expressed in relation to creatinine content. HCIIT measurement was done using sandwich ELISA at enrolment and after 12 and 24 months of recruitment. RESULTS: Urinary glycosaminoglycans and HCIIT were elevated in all patients compared to their healthy controls. Both markers could not discriminate between the type of mucopolysaccharidosis. CONCLUSIONS: Heparin Cofactor II Thrombin Complex is a good biomarker for mucopolysaccharidosis I and II.

Association of Methylene Tetrahydrofolate Reductase Polymorphism with BMD and Homocysteine in Premenopausal North Indian Women.

BACKGROUND AND AIM: Osteoporosis (OP) is a common nutrigenomic disease associated with various genetic components. Observational studies have indicated that mildly elevated homocysteine was a strong risk factor for osteoporotic fractures. Yet there is no clear biologic mechanism for an effect of homocysteine on bone.The aim of this study was to investigate the association of MTHFR C677T and A1298C polymorphisms, and to verify the association of these polymorphisms with bone mineral density and homocysteine in premenopausal women of northern India. MATERIAL AND METHODS: We included 402 north Indian patients with altered BMD, both Osteopenic (OPN) and Osteoporosis, and normal controls. Genotype identification for MTHFR C677T and A1298C polymorphisms were analyzed by PCR-RFLP method, correlated with Bone Mineral Density (BMD), Homocysteine (Hcy), Folate and Vitamin B12. RESULTS: The study groups did not differ in terms of age, weight and body mass indices. Prevalence of Genotype frequencies (GFs) for MTHFRC677T OP were (n: 402): CC 361 (89.8%), CT 25 (6.22%), TT 16 (3.98%) and that for MTHFR A1298C were (n: 402) AA 353(87.81%), AC 29(7.21%), CC 20(4.98%). Folate was significantly lower in the OP group than those in both the other groups, while there was no significant difference in Hcy in the OP group relative to OPN, as compared to controls. CONCLUSION: The GFs for MTHFR C677T and A1298C polymorphisms were not different between both groups. In conclusion, polymorphism of the MTHFR 677T is associated with small differences in BMD with folate levels. Further, more investigations should be done in larger studies for other epigenetic pathways, that may increase the risk of Osteoporosis.