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Background. DEPDC5 (disheveled, Egl-10 and pleckstrin domain-containing protein 5) familial epilepsy syndrome is a group of epilepsy disorders caused by mutations in DEPDC5 gene, which is a part of the gap activity towards rag 1 (GATOR1) complex involved in regulating the mechanism target of rapamycin (mTOR) pathway. These mutations lead to hyperactivation of the mTOR pathway, disrupting the shaping of neurons and resulting in increased excitatory transmission and the development of epilepsy. The incidence and prevalence of DEPDC5 familial epilepsy syndrome are not well established, but studies suggest it may account for up to 10% of familial focal epilepsy cases. Genetic testing, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) are important in diagnosing the disorder, although normal MRI results are common.Objective: to explain the rare sporadic mutation in DEPDC5 gene with p.R389H, a variant of unknown significance.Case report. A 6-year-old South-Asian girl was born at 34-weeks from non-consanguineous marriage without any prenatal events. She had hyperbilirubinemia by week-1, which was successfully treated with phototherapy. Her initial seizure occurred when she was three months old, just 2 days after the fever from the vaccination had subsided. It was considered a simple-febrile seizure and no treatment was given. At 3.5-months, she started having recurrent seizures. Workup including MRI/ infectious/metabolic panel was non-conclusive. EEG during the initial presentation showed epileptiform activity from the left temporal region. Despite being on multiple anti-epileptic drugs, the child was diagnosed with refractory epilepsy. Subsequently, EEG at 2.5-years showed inter-ictal bi-hemispheric epileptiform activity. EEG at 5-years showed inter-ictal spikes and wave discharges from bilateral fronto-temporal region with secondary generalization. By 3-years, MRI showed mildly deformed corpus callosum with inadequate thickening of splenium. DNA analysis confirmed heterozygous missense mutation in exon 16 of DEPDC5 gene, without chromosomal abnormalities. Mother was heterozygous for the same mutation but no mutations in the father was found. The child has grossly delayed milestones. Corrected age is approximately 1-year for fine motor and language, 1.5-years for gross motor, 2.5-years for cognition, social skills. She had developed autistic features as well with significant impaired auditory/visual processing. She had hypotonia (Right>Left), wide-based gait, and extrapyramidal movements.Conclusion. DEPDC5 gene mutation results in amino acid substitution of Histidine for Arginine at codon 389. This mutation has shown to be inherited in familial pattern. This R389H variant is not present in the 1000 genomes database and is predicted to be benign. However, It rather appears to be a sporadic mutation, which is a very rarely observed phenomena. Such patients may respond well to mTOR inhibitors such as rapamycin, making prompt diagnosis and treatment crucial.

INTRODUCTION: The prevalence of diabetic foot syndrome is increasing in the Indian population. It is a triad of neurological, vascular, and biomechanical changes due to long term diabetes mellitus (DM). Altered plantar pressure distribution is a risk factor for developing diabetic foot ulcers. The purpose of this study is to evaluate the altered plantar pressure distribution in diabetic peripheral neuropathy individuals with peripheral vascular disease in comparison with diabetic peripheral neuropathy and non-diabetic neuropathy. Therefore, the objective of the study is to evaluate the plantar pressure distribution and parameters in type 2 DM (T2DM) with diabetic foot syndrome.METHODS: In this study, 60 participants with T2DM were recruited in either one of the three groups: 20 Diabetic non-neuropathy (DNN), 20 Diabetic peripheral neuropathy (DPN), and 20 Diabetic peripheral neuropathy with the peripheral arterial disease (DNPAD). Then we compared the plantar pressure parameters like maximum plantar pressure, pressure-time integral, fore foot-hind foot ratio, and total contact area were measured using a WinTrack plantar pressure system.RESULTS: The diabetic peripheral neuropathy with peripheral vascular disease group shown a significant difference in all the plantar pressure parameters measured in comparison with the diabetic peripheral neuropathy group. There was increased Maximum plantar pressure, pressure-time integral and forefoot hindfoot ratio, and reduced total contact area of the foot (p < 0.05).CONCLUSION: For patients, with combined peripheral neuropathy and peripheral vascular disease have increased plantar pressure distribution, are at higher risks of developing neuro-ischemic foot, which further leads to diabetic foot ulcers.

Introduction: Ankle Brachial Index (ABI) is one of the common non-invasive diagnostic tools available for diagnosing Peripheral Arterial Disease (PAD). However, it has been observed that for an individual diagnosed with both PAD and Type 2 Diabetes Mellitus (T2DM), ABI tends to give false diagnostic value because of the calcification of the major lower limb arteries. Therefore, the health care professionals are at times misled for the diagnosis of PAD. To overcome this another diagnostic tool Toe Brachial Index (TBI) was suggested to perform. However, there is limited literature on performing both ABI and TBI in the given population in a single study.Aim: The main focus of this study is to report the profile of ABI and TBI along with classical symptoms like claudication pain, palpation of pulse and history of T2DM for the screening and diagnosis of PAD in T2DM.Materials And Methods: In this cross-sectional observational study, a total of 121 participants diagnosed with T2DM were recruited for the study as per the inclusion criteria. Detailed demographic details of the participants were noted. Diagnostic tool including both ABI and TBI were performed for all the participants and the data was analysed.Results: Among 121 participants, only 3 participants had both ABI and TBI positive indicating positive diagnostic test for PAD and 106 participants had both ABI and TBI negative. However, in the remaining 12 participants, 10 showed TBI positive but ABI negative and 2 had ABI positive but TBI negative.Conclusions: Based on our study we have reported the profile of PAD in T2DM individuals, which is found to be 10.75.%. Therefore, it can be concluded that ABI and TBI both should be performed to rule out any complication. This will be beneficial in early screening and detection of neuro ischemic changes in foot and subsequently to prevent amputation.

Background: Several diseases are caused in the body due to oxidative stress of free radicals. The objectives of the present study were to investigate the antioxidant activity of Araucaria cunninghamii Aiton ex D. Don (Araucariaceae) leaf extract. The dried leaves of Araucaria cunninghamii Aiton ex D. Don (Araucariaceae) were extracted with 80% methanol. The antioxidant activity of the extract was predicted through in vitro model systems such as 1,1-diphenyl-2-picryl hydrazyl (DPPH), reducing power and nitric oxide scavenging assays. The total phenolic, flavonoid and tannin content of the extract were also estimated in order to draw the correlation with their bioactivities. The extract was also investigated for several polyphenolic compounds using High-performance liquid chromatography (HPLC). Results: The antioxidant activity of extract was found to be excellent in all the three assays. A positive correlation between the antioxidant activity and phenolic content was observed. HPLC analysis identified the presence of Gallic acid, Catechin, Chlorogenic acid, Epicatechin, Caffeic acid, Umbelliferone, Ellagic acid, Quercetin and Kaempferol in the methanol leaf extract of Araucaria cunninghamii Aiton ex D. Don. Conclusions: The results of the present study point towards the fact that Araucaria cunninghamii Aiton ex D. Don leaves possess good antioxidant potential. The strong antioxidant activity can be correlated with the polyphenolic compounds present in the leaves.