MRI for paediatric flatfoot: Is it necessary?

Objective: To determine the additional benefit of MRI for children with flatfoot deformity assessed with weight-bearing radiographs in a specialist paediatric orthopaedic unit. Methods and materials: Patient cohort was obtained by searching the Radiology Information System for children referred for investigation of flatfoot. All patients with flatfoot on weight bearing radiographs who had undergone MRI were included. Radiographs were classified by a consultant musculoskeletal radiologist as showing no underlying abnormality, talo-calcaneal coalition, calcaneo-navicular coalition, accessory navicular or other abnormality. MRI studies were classified similarly by a different consultant musculoskeletal radiologist blinded to the radiographic findings. Results: 33 males and 24 females were included (mean age 12.5 years; range 3–18 years). Twenty-four had bilateral abnormality, so 81 feet were assessed. Radiographs showed no specific abnormality (n = 51), talo-calcaneal coalition (n = 6), calcaneo-navicular coalition (n = 3), os naviculare (n = 12) or other abnormality (n = 9). MRI showed no specific abnormality (n = 40), talo-calcaneal coalition (n = 10), calcaneo-navicular coalition (n = 5), os naviculare (n = 12) or other abnormality (n = 14). Assuming MRI as the diagnostic gold standard, additional relevant diagnostic information was identified in 19 (23.5%) cases, while in the 51 cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality in 31 (60.8%). Conclusion: MRI is a valuable adjunct to weight bearing radiography for investigating paediatric flatfoot deformity. Advances in knowledge: MRI is of value in the assessment of paediatric flatfoot, additional diagnostic information to radiography being identified in 23.5% cases, while in 60.8% of cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality.

Diagnosis of Tinnitus Due to Auditory Radiation Injury Following Whiplash Injury: A Case Study

We report on a patient with tinnitus who showed injury of auditory radiation following whiplash injury, demonstrated by diffusion tensor tractography (DTT). A 48-year-old male patient suffered from a car crash resulting in flexion-hyperextension injury of his head after being hit from behind by a moving car while waiting at a signal while driving a car. Three days after the car crash, he began to feel tinnitus in both ears and his tinnitus became aggravated with the passage of time. No specific lesion was observed on a conventional brain MRI performed two weeks after the car crash. Although he visited several hospitals, the precise cause of his tinnitus was not detected. Two years after the car crash, he underwent evaluation for his tinnitus at the ear, nose and throat department of a university hospital. The pure tone audiometry was evaluated in a sound-proof room to screen his hearing status for the frequencies of 250–8000 Hz and no specific abnormality was detected. Although he was also tested for speech audiometry, there was also no specific abnormality. In order to assess his tinnitus, a tinnitogram was conducted to evaluate the frequency content and the loudness. His tinnitus was characterized at an intensity of 40 dB and a frequency of 4000 Hz. However, no abnormality was observed in either ear on physical examination. On DTT, the auditory radiation showed severe narrowing and tearing in both hemispheres. To summarize, neural injury of the auditory radiation was demonstrated in a patient with tinnitus following whiplash injury, using DTT.

Smart ECG Monitoring Wireless System

Under advanced patient diagnostic approach, expensive wearable Holter Electrocardiography unit is used to record cardiac parameters for 24 or 48 hours. This may cause inconvenience to patient due to weight, dangling wires and taxing additional time to transfer data to the hospital from patient’s location. IOT plays a crucial role to read and transfer ECG data from remote places effectively for individuals and more. In this paper low cost, low power, portable ECG monitoring system is designed and experimented. Hardware-software co-design realizes real-time, wireless, acquisition of cardiac parameters. AD8232 is used to capture cardiac signals and processing is realized using MSP432P401R microcontroller and IOT. Under the event driven approach, in case of specific abnormality, Electrocardiogram (ECG) signal is transmitted, otherwise no transmission is allowed in order to reduce power consumption.This approach increases battery life time and reduces complexity.

A specific cognitive deficit within semantic cognition across a multi-generational family

We report a study of eight members of a single family (aged 8–72 years), who all show a specific deficit in linking semantic knowledge to language. All affected members of the family had high levels of overall intelligence; however, they had profound difficulties in prose and sentence recall, listening comprehension and naming. The behavioural deficit was remarkably consistent across affected family members. Structural neuroimaging data revealed grey matter abnormalities in the left infero-temporal cortex and fusiform gyri: brain areas that have been associated with integrative semantics. This family demonstrates, to our knowledge, the first example of a heritable, highly specific abnormality affecting the interface between language and cognition in humans and has important implications for our understanding of the genetic basis of cognition.

Five-Color Multiplex Real-Time PCR Technology to Detect Over 75 Recurrent Chromosomal Abnormalities in Acute Myeloid Leukemia; Benefits for Minimal Residual Disease Detection

Abstract 2526 Many studies on childhood and adult leukemias have demonstrated that thorough molecular analysis at the time of diagnosis and minimal residual disease (MRD) follow-up are significantly related to the prognosis, and overall- and event-free survival, of patients with acute leukemias. In acute myeloid leukemia (AML), such complex molecular diagnostics and subsequent MRD evaluations are important factors for proper stratification, disease prognosis, assessment of the treatment response, optimal dosage and duration of chemotherapy, and estimation of the optimal timing for hematopoietic stem cell transplantation. Upon diagnosis, the bone marrow samples of AML patients are routinely screened for an array of recurrent chromosomal abnormalities, including chromosomal translocations (e.g. PML/RARa, AML1/ETO, CBFb/MYH11, MLL fusions, BCR/ABL) or leukemia-associated genetic mutations (e.g. mutations in genes NPM1, WT1, FLT3, MLL or CEBPa). Given the fact that laboratories often deal with a limited amount of material sampled for molecular investigations, and the number of possible genomic aberrations and molecular targets is high, it is desirable to implement in routine practice a flexible tool that allows testing for as many genetic abnormalities as possible, while reducing the amount of biological material required for analyses to a minimum. In our laboratory, we have developed a multiplex Real-Time PCR technique allowing us to examine over 75 recurrent chromosomal aberrations in only 10 multiplex PCR reactions (Table 1). The methodology makes use of a set of fluorescently labeled TaqMan hybridization probes, labeled by 5 different fluorophores. Using this methodology we are able to assess the presence of both rare as well as recurrent chromosomal translocations/aberrations in one setting, from a limited amount of starting material. This approach is not only extremely beneficial for the leukemic patient - which is always the primary goal - but also for the overall budgeting of routine molecular screening of diagnostic AML samples.Table 1:List of the AML-associated chromosomal abnormalities included in the 5-Color Multiplex Real-Time PCR system. The multiplexing of individual molecular targets is indicated by the individual PCR tubes (A to J) used in the diagnostic screening of AML in our laboratory. Importantly, a clone-specific chromosomal abnormality found at the time of diagnosis using our 5-Color Multiplex Real-Time PCR system allows us to molecularly follow-up the MRD level with a high sensitivity of 10e-4 to 10e-6, as assessed by serial dilutions of cloned standards harboring the individual aberrant genetic targets. This complex molecular approach considerably helps hematooncologists in clinical decision making and the adjustment and modulation of the treatment of AML patients in respect to their individual needs and their individual disease course. Since 2005 we have molecularly investigated 398 adult AML cases. Using the 5-Color Multiplex Real-Time PCR technique and mutational screening we were able to identify a clone-specific abnormality in 45.2% of cases. The clone-specific genetic markers were then used as specific molecular targets for a clone-specific MRD follow-up. Although in approximately 50% of AML patients we are still not able to identify any clone-specific abnormality to be used for either stratification (recurrent abnormalities) or molecular MRD follow-up (both recurrent and unique/rare abnormalities) of these leukemic patients, our 5-Color Multiplex Real-Time PCR system, being an open platform, enables us to flexibly implement any newly identified chromosomal aberrations to the diagnostic portfolio, thus increase the probability of finding a clone-specific molecular marker with all the positive consequences in respect to the management of patients with acute leukemia. Disclosures: Smolej: GlaxoSmithKline: Honoraria, Membership on an entity's Board of Directors or advisory committees, Travel Grants; Roche: Honoraria, Travel Grants; Genzyme: Honoraria, Travel Grants.

Computed Tomographic Scan Evaluation of Pulmonary Blastomycosis

BACKGROUND: Blastomycosis is an uncommon granulomatous pulmonary and extrapulmonary infectious disease caused by the thermally dimorphic fungusBlastomyces dermatitidis. Diagnosis may be delayed or difficult because of varied presentation. The characteristics of blastomycosis on computed tomographic (CT) scan of the chest are not well characterized.METHODS: The images from 34 chest CT scans from patients with confirmed pulmonary blastomycosis were retrospectively reviewed.RESULTS: The most common CT findings were air bronchograms in 22 patients (65%), consolidation in 21 patients (62%), nodules (smaller than 3 cm) in 21 patients (62%) and lymph node enlargement (mediastinal and hilar nodes combined) in 12 patients (35%). Only four patients (12%) had a miliary pattern.CONCLUSIONS: A specific abnormality characteristic of pulmonary blastomycosis was not identified on CT scanning. The diagnosis can only be made in the context of a high index of clinical suspicion with histological or culture confirmation.

EFFECT OF CHEMOTHERAPY ON PHILADELPHIA CHROMOSOME IN CHRONIC MYELOID LEUKEMIA (CML) PATIENTS

Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder as a resultof neoplastic transformation of the primitive hemopoetic cells. It is well known thatthe Philadelphia chormosome (ph) is a specific abnormality found in 90% of CMLpatients. It has been reported that interferon has better effect on disease control andprognosis. Cytogenetic analysis of ph chromosome plays very important role in theprognosis and monitoring of therapy. In this present study 35 diagnosed patients ofCML were considered, which included untreated patients of various age groups (2-62yrs). The cases were refered from haematology clinic of All India Institute of MedicalSciences (AIIMS). Out of 35 patients only 13 patients were available after six monthof therapy for follow-up cytogenetic analysis. Out of 13 patient, 2 were ph negative, 8were 100% ph positive and 3 were ph positive mosaic before therapy. Of the 3 mosaicpatients, 2 remained unchanged after therapy and one patient became 100% phnegative. Though in general significant reduction in ph% by interferon therapy wasseen but minority patients showed complete cytogenetic remissionKey Words: Chronic myeloid leukemia, chemotherapy, Philadelphia chromosome.