Congenital Aural Atresia: What the Radiologist Needs to Know?

Congenital aural atresia (CAA) is characterized by hypoplasia or aplasia of external auditory canal associated with auricular deformity. It also embodies a spectrum of temporal bone abnormalities including anomalies of middle ear, ossicles, facial nerve, oval window, round window, mastoid pneumatization, temporomandibular joint and occasionally inner ear and vascular anomalies. The management in such patients is variable and consists of rehabilitative hearing aids or surgical correction depending on various patient factors like associated temporal bone abnormalities, degree of hearing impairment and laterality. Surgical management if planned, depends on the extent of associated temporal bone anomalies and hence necessitates comprehensive knowledge about the normal and abnormal anatomy of these structures. High resolution computed tomography (HRCT) is the optimal investigation which provides required anatomical information and plays a pivotal role in deciding the management strategy. This pictorial review aims to review the spectrum of anomalies involving critical structures in CAA on HRCT along with their clinical significance.

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center.

Introduction X-linked adrenoleukodystrophy (X-ALD) is a devastating disease with a wide spectrum of presentation ranging from asymptomatic to a rapidly progressive childhood cerebral form. The gene responsible for adrenoleukodystrophy is ABCD1 gene, required for ß oxidation of fatty acids in various tissues. While biochemical and molecular techniques are available to confirm the diagnosis, brain magnetic resonance imaging (MRI) utilizing Loes score has been used for both prognosis and timely direction of hematopoietic stem cell therapy. Materials and Methods During the study period of 2016 to 2020, 22 individuals including 19 individuals with features suggestive of X-ALD and 3 asymptomatic siblings were evaluated from a single center in North India. After biochemical and molecular confirmation of the disease, detailed clinical and radiological findings using MRI brain were documented. A radiological scoring pattern proposed by Loes was employed to identify the severity of the disorder. Results The most common clinical presentations were visual difficulty and muscular weakness (58%). All symptomatic individuals had classic neuroimaging findings in the form of hyperintensities involving the parieto-occipital area and splenium of corpus callosum. Severe involvement in the form of global atrophy was observed in 52.6% of individuals. Asymptomatic siblings also showed neurological involvement based on MRI with highest Loes score of 9 in one individual. Conclusion This case series describes the clinical and radiological profile and employment of Loes score in individuals with X-ALD. Early identification of asymptomatic individuals by neuroimaging and use of Loes severity score for monitoring and disease progression will help in making therapeutic decisions in a timely manner.

Predicting outcome of advanced head-and-neck cancer by measuring tumor blood perfusion in patients receiving neoadjuvant chemotherapy.

PURPOSE: The purpose of this study was to correlate treatment response with tumor blood perfusion in patient of advanced head-and-neck cancer undergoing neoadjuvant chemotherapy. MATERIALS AND METHODS: A total of 40 patients of advanced head-and-neck cancer, who were planned for neoadjuvant chemotherapy, were included in the study. All patients underwent diagnostic computed tomography (CT) with perfusion study for staging and quantitative measurement of tumor volume as well as perfusion parameters (including tumor blood volume, blood flow, permeability, and time to peak enhancement), at baseline and after completion of neoadjuvant chemotherapy. Total 3 cycles of neoadjuvant chemotherapy with paclitaxel, cisplatin, and 5 fluorouracil were given. Tumor response was evaluated in terms of change in tumor volume and correlated with perfusion parameters. RESULTS: Out of 40 patients, 22 patients had more than 50% reduction in tumor volume, who were grouped as responder and remaining 18 patients had <50% decrease in tumor volume, grouped as nonresponder. Both the groups were similar in terms of age, gender, performance status, stage, nodal status, or addiction. Baseline CT scan shows a significant difference in tumor blood flow (P = 0.048) and marginal difference in time to peak enhancement (P = 0.058) in two groups. However, there is no difference in tumor blood volume (P = 0.32) and permeability surface area (P = 0.07). CONCLUSIONS: Evaluation of tumor blood flow by perfusion CT is helpful in predicting chemotherapy outcome and deciding appropriate treatment modality, but further evaluation with more number of patients is required for validating the predictive role of each perfusion parameters.

An analysis of deep vein thrombosis in burn patients (part II): A randomized and controlled study of thrombo-prophylaxis with low molecular weight heparin.

INTRODUCTION: Morbidity and mortality from venous thrombo-embolism (VTE) remains a significant problem for trauma and medical patients and there are established guidelines for prophylaxis in these patients. However, the efficacy and safety of VTE prophylaxis in thermally injured patients continue to be elusive as it has never been studied in a prospective, randomized fashion. Selective use of VTE prophylaxis, for high risk patients, is practiced by some burn units even if objective evidence is lacking for majority of risk factors enunciated in burn patients. Differing demographics and wound management techniques are other confounding factors mandating more prospective studies to evaluate the need and role of chemoprophylaxis for deep vein thrombosis (DVT) prevention in burn patients. Ours is the first prospective, randomized, controlled study which seeks to identify risk factors for DVT in our patients, and evaluate the role of routine chemoprophylaxis and its complications. METHODS: The study design (sample size, inclusion/exclusion criteria, randomization, methodology and statistical methods) is detailed in part-1 of this two part manuscript. RESULTS: Doppler ultrasound (DUS) identified DVT in four out of 50 patients (8% incidence) forming the control group. DVT was not detected in any of the patients on prophylaxis (0% incidence). This difference was found to be statistically significant (p value-0.021). Patients with DVT had significantly higher %TBSA, prolonged immobility and a longer duration of stay as compared to patients without DVT in the control group. Only one patient on enoxaparin prophylaxis developed mild epistaxis which resolved spontaneously. Fifteen patients died during the study out of which two had DVT but none showed autopsy evidence of pulmonary embolism. CONCLUSION: With a moderate risk of developing DVT (8%) and a complication rate of only 2% with chemoprophylaxis, we feel that routine prophylaxis has the potential to decrease the incidence of VTE, without associated complications, in the moderate to high risk category.

An analysis of deep vein thrombosis in burn patients (Part 1): Comparison of D-dimer and Doppler ultrasound as screening tools.

INTRODUCTION: The high prevalence of deep vein thrombosis (DVT) reported in prospective studies and the unreliability of clinical diagnosis mandates prospective screening for DVT in burn patients. Our study seeks to compare D-dimer and Doppler ultrasound (DUS) in search for a practical, inexpensive and a reliable screening tool. METHODS: One hundred burn patients (inclusion criteria: 30-60% TBSA burn, >18 years of age, admitted within 48h of burn) were computer randomized into two equal groups. The study (prophylaxis) group received low molecular weight heparin (LMWH) (0.5mg/kg, twice daily-max 60mg/day) from day one, till discharge. Screening D-dimer assays and DUS of the lower extremities were performed on all 100 patients on day five, and then weekly, till discharge. RESULTS: Signs and symptoms simulating DVT (pain, swelling, redness, warmth, positive Homans' and Moses' sign) were present in majority of patients with lower limb burns. 43/50 patients (86%) in the control group and 38/50 patients (76%) in the study (prophylaxis) group had positive D-dimer values (>0.5µg/ml) on the 5th post-burn day. D-dimer was positive in all the four patients identified with DVT. However, only 4/100 patients enrolled in the study demonstrated DVT on DUS. Thus, the specificity of the D-dimer assay was only 20% with a positive predictive value of 5%. Absolute D-dimer values were found to have no correlation to the extent of burns. CONCLUSION: We conclude that D-dimer is not a useful screening tool for DVT in burns contrary to its accepted value in general trauma and medical patients.