Sensitivity and specificity of CT scan in revealing skull fracture in medico-legal head injury victims

Background

Emergency departments rely on CT scans to manage trauma victims, especially for head injuries. Although the detection of an undisplaced fracture on a CT scan of the head without significant intracranial findings may be insignificant for a clinician, such cases are of paramount importance for medico-legal purposes because they help ascertain the nature, manner, and cause of the head injury.

Aims

The study was conducted with the objective of knowing the sensitivity and specificity of ante-mortem CT scan findings indicating the presence or absence of skull fractures.

Methods

Findings were confirmed during post-mortem examination of the subjects who had died during management but who had not had any surgical intervention. A comparative study of ante-mortem CT scan and autopsy findings with respect to fracture in traumatic head injuries was undertaken on 60 deceased individuals brought in for medico-legal post-mortem examination over a period of two years.

Results

Considering the autopsy findings as the gold standard, we have concluded that 14.6 per cent of the fractures were missed on CT scan findings compared to fractures found during autopsy. The sensitivity of CT scan for skull fractures was found to be 85.4 per cent and specificity was 100 per cent. Kappa was 0.787, which shows good agreement with p<0.001, which was highly significant.

Conclusion

In developing countries, images are interpreted in the axial plane only on a CT scan of the head, which may be due to a lack of financial and human resources. For better delineation of fractures, the use of techniques like multi-detector CT with sagittal and coronal reformations should be considered in the routine interpretation of a CT scan of the head.     

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia

Glanzmann thrombasthenia (GT) is an autosomal recessive platelet function disorder characterized by mucocutaneous bleeding as the most common clinical phenotype. Patients with GT have normal platelet counts, platelet morphology but reduced platelet aggregation in response to various agonists. Homozygosity or compound heterozygosity for variants in the ITGA2B/ITGB3 genes is the genetic basis for GT. Establishing a molecular diagnosis is definitive and is important for predictive testing. Using multi-gene panels is an accurate, faster, and cost-effective mode as compared to Sanger sequencing in large genes. We used a targeted resequencing based approach to identify pathogenic variants in eight cases in seven families. These variants were validated using Sanger sequencing in patients as well as family members and were predicted probably pathogenic using in-silico prediction tools. The variants include three missense (3/7 = 43%) (ITGA2B:c.1028 T > C, ITGA2B:c.1186G > A, ITGB3:c.1388G > C), two deletions (ITGA2B:c.559delG, ITGA2B:c.3092delT), one duplication (ITGA2B:c.1424_1427dupAGGT) and nonsense variant (ITGA2B:c.2578C > T, p.Gln860Ter). Except for one case which was compound heterozygous, the rest of the cases were homozygous. We found two novel variants that are reported for the first time in GT. The targeted resequencing based approach revealed varied genetic variants in North Indian patients, including two novels ones. The high yield of our panel indicates its suitability for usage in larger cohorts for the genetic diagnosis of GT patients. This approach is cost-effective and less cumbersome as compared to Sanger sequencing for these large size genes with multiple exons. The information so obtained is helpful in prenatal testing, carrier analysis, and genetic counseling.     

Study of the pituitary-thyroid functions at high altitude in man.

The alterations in serum levels of T3, T4, TSH and TBG, TSH response to 100 mug iv TRH, and urinary excretion of T3 and T4 were studied in 8 healthy men at sea level (SL), on days 1, 2, 4, 8 and 16 after arrival by air at high altitude (3,700 m, HA), and during days 5 to 7 after their return to SL. No significant alterations in serum levels of TSH and TBG or TSH response to TRH were observed during exposure to HA or on return to SL. There was, however, an acute elevation in both serum total T3 and T4. Serum total T3 from a mean basal+/-SE value of 128+/-13 ng/dl increased to 320+/-18 on day 1 and remained significantly elevated at 225+/-48 up to day 8 after arrival at high altitude. Similarly serum total T4 increased from basal level of 9+/-0.92 mug/dl to 15.2+/-1.2 and remained elevated till day 16 and it was 11+/-1.19 mug/dl during days 5 to 7 after return to SL. The urinary excretion of both T3 and T4 was decreased. These changes perhaps were the result of complex physiologic adjustments on acute exposure to high altitude, like shrinkage of the T3 and T4 distribution pools, altered binding capacities of thyroid hormones binding proteins, and a reduction in clearance of thyroid hormones from the plasma compartment; and were probably not suggestive of an enhanced thyroid activity. Their actual significance in high altitude adaptation in man is not clearly understood.     

Use of pH-impedance testing to evaluate patients with suspected extraesophageal manifestations of gastroesophageal reflux disease

GOALS: To report the use of pH-impedance testing in evaluating patients with suspected gastroesophageal reflux disease (GERD) with atypical symptoms. BACKGROUND: Although the role of acid reflux in causing atypical GERD symptoms is generally accepted, the role, if any, of nonacid reflux is controversial, largely because until recently it has not been possible to detect nonacid reflux. The advent of intraluminal combined pH impedance testing (MII-pH), to detect nonacid reflux has heightened interest in its possible contribution to atypical symptoms. STUDY: Fifty consecutive patients referred for MII-pH testing to evaluate the cause of atypical symptoms presumed due to GERD were evaluated. The symptoms were either refractory to acid inhibition therapy or so atypical that further work up was desired by the referring physician. Patients underwent MII-pH testing to determine whether reflux was present, and, if so, if it was due to acid, nonacid, or gas. RESULTS: Only 16%, 22%, and 2% patients were found to have symptoms due to acid reflux, nonacid reflux, or both, respectively. Ten percent of these patients had gas reflux. MII-pH testing was useful in redirecting the management of patients who did not have reflux as the cause of their symptoms. CONCLUSIONS: MII-pH testing is useful in determining whether gastroesophageal reflux is present in patients with atypical symptoms that have not responded to proton pump inhibitor therapy. It also distinguishes between reflux due to acid, nonacid, and gas, with consequences for management.     

Chaos and stability of the solar system

Over the last two decades, there has come about a recognition that chaotic dynamics is pervasive in the solar system. We now understand that the orbits of small members of the solar system-asteroids, comets, and interplanetary dust-are chaotic and undergo large changes on geological time scales. Are the major planets' orbits also chaotic? The answer is not straightforward, and the subtleties have prompted new questions.     

Lessons learnt from an obstetric and neonatal emergency simulation program in India

BackgroundCombined obstetric and neonatal emergency simulation based training is gaining popularity in healthcare settings. Methods: In this qualitative study, through semi-structured one to one interviews, we evaluated participant attitudes, perceptions of retention of learning, and application to clinical practice one year after a simulation workshop. Audio recordings of interviews were transcribed, collated and subjected to thematic analysis. Results: Five major themes were identified through the thematic analysis: comparing simulation to clinical practice; learning and working in teams; thinking retention and sustainability; relating relevance of simulation based education to roles; and managing leadership. Conclusions: Participants’ acknowledgement of training being relevant to their routine practice, and keenness to learn management of complicated births highlighted the sustained impact of obstetric and neonatal emergency simulation training.     

Cast index in predicting outcome of proximal pediatric forearm fractures

Background:Many pediatric forearm fractures can be treated in plaster following closed reduction. The cast index (CI, a ratio of anteroposterior to lateral internal diameters of the cast at the fracture site) is a simple, reliable marker of quality of molding and a CI of >0.8 correlates with increased risk of redisplacement. Previously, CI has been applied to all forearm fractures. We hypothesize that an acceptable CI is more difficult to achieve and does not predict outcome in fractures of the proximal forearm.Results:The mean CI was 0.77. Remanipulation was required in five cases (6%), all distal half fractures – mean CI 0.79. CI was higher in proximal half forearm fractures (0.83 vs. 0.76, P = 0.006), nonetheless these fractures did not re-displace more than distal fractures.Conclusion:Cast index is useful in predicting redisplacement of manipulated distal forearm fractures. We found that in proximal half forearm fractures it is difficult to achieve a CI of <0.8, but increased CI does not predict loss of position in these fractures. We therefore discourage the use of CI in proximal half forearm fractures.