A comparative study of efficacy of midazolam and triclofos as oral premedication in children undergoing minor surgical procedures

Background: In Paediatric population, premedication is oftenly used to decrease preoperative anxiety, facilitate separation from parents and to get acceptance for face mask induction. Our study was aimed to compare the efficacy of oral midazolamandoral Triclofos as premedicants in children as sedatives, anxiolytics and to promote acceptance of facemask. Patients & Methods: Our study is prospective, randomized, double blind, controlled study involving fifty ASA-1 children between 1 to 10 years of age, undergoing elective surgery. Group A patients was allotted oral Midazolam 0.5mg kg-1 while Group B patients received Triclofos 75mg kg-1 orally as premedication. Assessment of the allowance of premedication, degree of sedation, level of anxiolysis and acceptance of face mask was done by separate scoring methods at intervals of 30 minute (till a maximum of 3 assessments) up to the child was shifted to the operating room. A parental questionnaire was useful to judge the parental satisfaction. Results: In Group A, 21 patients (82%) were awake, but calm and 4 patient (18%) was asleep during the first assessment done 30 minutes after the administration of the drug, while in Group B, only 2 patients (10%) were awake and calm and 23 patients (90%) of the patients were asleep (p value 0.000). In Group I, 13 patients (55%) did not resist the face mask and 12 patients (44%) showed slight resistance while in Group B, 2 patients (11%) showed no resistance to face mask and 13 patients (55%) showed slight resistance. Facemask acceptance was more in Group A (p value of 0.014). Conclusion: Conclusion from our study was that oral Triclofos has better premedication effect as children were sedated, calm and asleep whereas children those received oral midazolam as premedication were awake but calm and quality of face mask acceptance was better

Genomic convergence and network analysis approach to identify candidate genes in Alzheimer's disease

BACKGROUND: Alzheimer’s disease (AD) is one of the leading genetically complex and heterogeneous disorder that is influenced by both genetic and environmental factors. The underlying risk factors remain largely unclear for this heterogeneous disorder. In recent years, high throughput methodologies, such as genome-wide linkage analysis (GWL), genome-wide association (GWA) studies, and genome-wide expression profiling (GWE), have led to the identification of several candidate genes associated with AD. However, due to lack of consistency within their findings, an integrative approach is warranted. Here, we have designed a rank based gene prioritization approach involving convergent analysis of multi-dimensional data and protein-protein interaction (PPI) network modelling. RESULTS: Our approach employs integration of three different AD datasets- GWL,GWA and GWE to identify overlapping candidate genes ranked using a novel cumulative rank score (S(R)) based method followed by prioritization using clusters derived from PPI network. S(R) for each gene is calculated by addition of rank assigned to individual gene based on either p value or score in three datasets. This analysis yielded 108 plausible AD genes. Network modelling by creating PPI using proteins encoded by these genes and their direct interactors resulted in a layered network of 640 proteins. Clustering of these proteins further helped us in identifying 6 significant clusters with 7 proteins (EGFR, ACTB, CDC2, IRAK1, APOE, ABCA1 and AMPH) forming the central hub nodes. Functional annotation of 108 genes revealed their role in several biological activities such as neurogenesis, regulation of MAP kinase activity, response to calcium ion, endocytosis paralleling the AD specific attributes. Finally, 3 potential biochemical biomarkers were found from the overlap of 108 AD proteins with proteins from CSF and plasma proteome. EGFR and ACTB were found to be the two most significant AD risk genes. CONCLUSIONS: With the assumption that common genetic signals obtained from different methodological platforms might serve as robust AD risk markers than candidates identified using single dimension approach, here we demonstrated an integrated genomic convergence approach for disease candidate gene prioritization from heterogeneous data sources linked to AD. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/1471-2164-15-199) contains supplementary material, which is available to authorized users

Correlation of ultrasonographic measurements, histopathological grading, and clinical staging in oral submucous fibrosis

Aims and Objectives: To evaluate the presence and thickness of submucosal fibrosis in oral submucous fibrosis (OSMF) patients ultrasonographically and to correlate these findings with the clinical stage and histological grade of OSMF. Materials and Methods: Forty participants (twenty cases and twenty controls) were included in the study. The patients diagnosed clinically as having OSMF and consented for biopsy were included in the cases, and completely healthy individuals with no habit history or oral lesions were included in the control group after matching the body mass index. After clinically staging, the patients' transcutaneous ultrasonography (USG) was performed and after that punch biopsy was taken and the specimen was graded histopathologically. Results: The data were statistically analyzed using Mann–Whitney test and Spearman's rank correlation. The cases showed increased submucosal thickness as compared to the controls. The USG measurements statistically correlated with the clinical stage and histopathological grade of OSMF. Conclusion: USG proves to be a valuable adjunctive modality in diagnosing, staging and also evaluating the prognosis of OSMF

Holt-Oram syndrome: Anesthetic challenges and safe outcome

Holt-Oram syndrome (HOS) is an autosomal dominant disease with skeletal and cardiac manifestations. We here are presenting a 31-year-old man and a diagnosed case of HOS, with an ulceroproliferative lesion on lateral border of the tongue, was posted for wide excision of lesion with primary closure and left side radical neck dissection

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

Background & objectives: Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. Methods: This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Results: Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Interpretation & conclusions: Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis

Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability

Background & objectives: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). Along with clinically relevant variants, CMA platforms also identify variants of unknown significance (VUS). This study was done to look for utility and various issues in interpretation of copy number variants (CNVs) in Indian patients with ID/DD. Methods: The CMA was performed in 86 Indian patients with idiopathic ID/DD with or without dysmorphic features. CNV was reported if copy number gain was >400 kb in size and copy number loss was > 200 kb in size. Results: Pathogenic CNVs were found in 18 of 86 (20.9%) patients. One large (14 Mb size) de novo heterozygous copy number gain was found in one patient. VUS (total 31) were present in 17 of 86 (19.7%) patients. Five novel recurrent benign CNVs were also present in our patients. Interpretation & conclusions: Our findings highlight the difficulties in interpretation of CNVs identified by CMA. More Indian data on VUS and recurrent benign CNVs will be helpful in the interpretation of CMA in patients with ID/DD

Prevalence & perinatal outcome of GDM : a tertiary teaching hospital based study

Can we do something to improve outcomes of GDM?Much needs to be done to deal with epidemic of GDM in India as it affects both mother and fetus adversely.This study was aimed to find out the data pertaining to GDM.Using notional sampling frame 200 pregnant women  were offered  75 gm oral glucose tolerance test between 24 to 28 weeks of gestation,irrespective of the fasting status as recommended by DIPSI.Patients having values ≥140 mg/dl ,2 hrs after administration of 75 gm oral glucose were labelled as GDM.Whole cohort was followed during antenatal period and upto 7 days after delivery for fetomaternal outcome. Prevalence of GDM was 8% in our study. Statistically significant  increased rates of gestational hypertension,chronic hypertension, preeclampsia,UTI,preterm delivery,rate of caesarean section and polyhydramnios were found  in GDM patients.Statistically significant higher rates of metabolic complications,respiratory distress,admission to neonatal unit and macrosomia were found in neonates of GDM mothers.Hence there is a need for studying outcomes as well as cost effectiveness of different diagnostic criteria while simultaneously creating social awareness, training manpower, and sensitizing policymakers to make GDM testing and management mandatory during pregnancy at all levels

Anesthetic Management of Dextrocardia with Situs Inversus for Caesarean Section- A Case Report

Dextrocardia is a congenital cardiac malrotation in which the heart is situated on the right side of the body (dextroversion) with the apex pointing to the right. It may be associated with many cardiac and non-cardiac anomalies. It can also occur as a part of Kartagener’s Syndrome (KS). Presence of congenital and cardiac anomalies make the anesthetic management challenging and knowledge of the same is essential for better patient outcome