Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a better quality of life and prolonged life-time in MPS IVA patients. Currently, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for patients with MPS IVA. However, ERT and HSCT do not have enough impact on bone and cartilage lesions in patients with MPS IVA. Penetrating the deficient enzyme into an avascular lesion remains an unmet challenge, and several innovative therapies are under development in a preclinical study. In this review article, we comprehensively describe the current diagnosis, treatment, and management for MPS IVA. We also illustrate developing future therapies focused on the improvement of skeletal dysplasia in MPS IVA

Ultrasound imaging in joint and soft tissue inflammation

The use of ultrasound as an extended and more objective investigation performed as an extension of physical examination has a potential role in studying inflammation in different rheumatic diseases such as rheumatoid arthritis (RT) and spondylarthropathy (SpA). Rheumatoid arthritis is a chronic disease causing joint inflammation and destruction. Metacarpophalangeal (MCP) joint involvement is one of the earliest and most permanent signs of RA. US has been used to detect synovitis and erosions in MCP joints with high accuracy when compared to X-ray and magnetic resonance imaging (MRI). In RA joints, power Doppler has been used to detect increased blood flow as a potential sign of inflammation but grey-scale and power Doppler ultrasonography was not compared to another method to detect increased blood flow in MCP joints. After RA the next most common inflammatory group of diseases are the seronegative spondylarthropathies. In SpA joint inflammation and ankylosis occur in addition to periarticular enthesitis, which is one of the major hallmarks of the disease and has been poorly studied by ultrasonography. In order to reduce observer variation in musculoskeletal ultrasound examination to the level of other imaging methods it is necessary to avoid direct contact between the observer and the subject. This problem has been addressed in the aerospace industry and led to the development of air-coupled non-destructive testing. Air-coupled ultrasonography has the potential in medial imaging to exclude observer variation if it is able to depict human anatomy. There are currently no data regarding airborne ultrasound in the musculoskeletal ultrasound literature

Correlation between HRCT Temporal Bone Findings and Surgical Findings in Patients with Chronic Suppurative Otitis Media

INTRODUCTION: Chronic otitis media [COM] is an inflammation of the middle ear cleft of long duration. It involves inflammation of the mastoid air cell system also due to its anatomical connection to the middle ear. Due to the location of the tympanomastoid compartment, separated from the middle and posterior cranial fossae by thin bony partitions, otitis media has the potential for intracranial extension. So it is very important to know the location and extent of the disease before planning surgical management. Radiological examination of the temporal bone helps us to achieve this objective. The various modalities of temporal bone imaging are conventional radiography, CT scan and MRI. The petrous temporal bone is a complex structure containing the middle and inner ear and various contained structures like the ossicles. This challenges the limits of resolution by imaging techniques. Good spatial resolution by imaging to allow adequate demonstration of these bony structures in the middle and inner ears has made management of otitis media much simpler these days. AIMS AND OBJECTIVES OF THE STUDY: 1. To study the findings of HRCT temporal bone in patients with chronic otitis media with and without cholesteatoma. 2. To evaluate the extent of pathological process and sites of involvement of the middle ear and the mastoid air cell system in these patients. 3. To study the relationship of the tympanomastoid compartment to the adjacent , critical neurovascular structures. 4. To evaluate the results of our study and compare with similarly published studies. MATERIALS AND METHODS: The present work was undertaken to study the radiological findings of temporal bone in patients diagnosed as having chronic otitis media at Government Rajaji Hospital attached to the department of ENT, Madurai Medical College, Madurai between December 2011 and November 2012. Methods of collection of data: Sample size: A minimum of 50 patients were enrolled for the study. 50 patients with Chronic otitis media presenting to ENT outpatient department at Government Rajaji Hospital attached to Madurai Medical College were taken up for study. As soon as the patient presented to the hospital, detailed clinical history and examination were carried out as per the proforma prepared. Laboratory investigations were done. All patients were subjected to HRCT temporal bones, 1mm axial and coronal slices. Once the radiological findings were noted and extent of disease established, management was done accordingly. Inclusion Criteria: 50 patients of both sexes and all age groups presenting with chronic otitis media. Exclusion criteria: 1. Patients with previous surgery for chronic otitis media were excluded. 2. Chronic otitis media requiring MRI and, 3. Patients with a history of prior temporal bone trauma were excluded. All patients entering the present study underwent certain investigations. CONCLUSION: Chronic suppurative otitis media is a disease entity that an otorhinolaryngologist encounters frequently in his day to day practice. HRCT temporal bones is emerging as an imaging tool that would guide the surgeon regarding the extent and location of the pathology in these patients such that the appropriate line of management can be chalked out in the mind of the treating surgeon. The study conducted at our centre regarding the role of CT temporal bones in patients with CSOM with respect to the variables like ossicular erosion- malleus handle, malleus head, incus; facial canal dehiscence, LSCC erosion, mastoid cortex dehiscence, cholesteatoma, and anatomical variants like Korner‟s septum, high jugular bulb and forward lying sigmoid sinus were as follows. It showed excellent correlation for anatomical variantions like Korner‟s septum, anteriorly placed sigmoid sinus; good correlation for ossicular destruction – incus being the most commonly eroded ossicle. A moderate correlation was seen in cases of diagnosis of cholesteatoma on CT and on table. CT was found to be more accurate in detection of atticoantral pathology when there were associated changes of bony destruction. CT temporal bones was not found to be so reliable for predicting facial canal dehiscence and lateral semicircular canal dehiscence due to the partial averaging effects of the imaging modality. HRCT temporal bones is a useful preoperative tool in patients who present with chronic suppurative otitis media due to - Its ability to demonstrate fine bony details, - delineation of important adjacent anatomical structures and avoid inadvertent injury, - plan the surgical approach, - detect complications, - aids in good and effective surgical clearance

Morphological imaging of the canine thyroid gland with an application towards hypothyroid dogs

Het aantal publicaties over het gebruik van medische beeldvorming bij schildklieraandoeningen bij de hond is beperkt. Beschikbare studies rapporteren enkel het gebruik van echografie (US) en planaire scintigrafie in gevallen van schildkliertumoren. De toegenomen beschikbaarheid van andere beeldvorming- technieken, zoals Computed Tomography (CT) en Magnetic Resonance Imaging (MRI), maakt deze potentieel waardevol als bijkomstige testen in de soms moeilijke diagnose en bij het opstellen van een geschikt behandelingsprotocol voor schildklieraandoeningen bij de hond. Als voorbereidende studie werd de herhaalbaarheid van US metingen bepaald. Van verschillende metingen, gemeten door verschillende onderzoekers, hadden de hoogte- en volumemetingen de grootste herhaalbaarheid. De variatie binnen de verschillende onderzoekers was kleiner dan tussen de verschillende onderzoekers. De volgende kenmerken werden echografisch waargenomen in een populatie hypothyroIde honden: hypoechogeen en heterogeen parenchym, onregelmatige aflijning van het kapsel, ronde vorm van de schildklierlob op dwarsdoorsnede en verkleind schildklier volume. De vijf parameters gecombineerd, resulteerde in een sensitiviteit van 94% in de detectie van hypothyroidie. Een continue afname in volume van de schilkier werd opgemerkt na opstarten van de behandeling. US is een gevoelige en snelle test voor het opsporen van hypothyroidie bij de hond. Een volgend hoofdstuk handelt over de CT kenmerken van de normale schildklier bij de hond. De gemiddelde pre- en post-contrast attenuatie waarden waren zeer hoog voor weke delen. Na injectie van intraveneus contrast nam het schildklier volume toe. Alle schildklierlobben zagen er homogeen uit op zowel pre- als post-contrastbeelden. De ligging, de grootte en de vorm van de schildklierlobben werden beschreven. Bijschildklieren werden niet gezien en een isthmus werd slechts bij 1 op de 25 honden aangetroffen. Gezien de uitstekende zichtbaarheid en kenmerkende eigenschappen van de normale schildklier bij de hond besloten we dat het gebruik van CT voordelig zou kunnen zijn om het onderscheid te maken tussen nekmassa’s afkomstig van schildklierweefsel en nekmassa’s van andere oorsprong. CT heeft eveneens een potentiële rol bij het stageren van schildkliertumoren. Tot slot beschreven we de MRI kenmerken van de normale schildklier. De kenmerkende vorm, ligging en intensiteit vergeleken met de omliggende structuren maakten de schildklier duidelijk herkenbaar bij alle honden. Een isthmus werd slechts bij 1 op de 44 honden aangetroffen en bijschildklieren werden niet gezien. Gezien de uitstekende zichtbaarheid en kenmerkende eigenschappen van de schildklier op MRI werd er besloten dat MRI kan bijdragen tot de diagnose van diffuse schildklieraandoeningen, bij het onderscheiden van nekmassa’s van schildklieroorsprong en andere oorsprong, en bij de stagering en operatieplanning van schildkliertumoren

Mr volumetry of intracranial and brain volume in normal adult population aged 40 years old and above.

Magnetic Resonance Imaging (MRI) has significantly accelerated many studies involving the brain with more researchers looking into not only anatomy and structural aspects of the brain, but also functional aspect due to excellent soft tissue discrimination (Kennedy et al., 2003). MRI also enables researchers to study the changes involving intracranial volume, brain volume and compartmental volumes, giving valuable data regarding the normal human brain morphological changes and in certain degenerative diseases or psychiatric illnesses (Ohnishi et al., 2001; Peters, 2006)

Estimating the trauma-death interval : a histological investigation of fracture healing.

The accurate, reliable estimation of the ‘age’ of a fracture, or the time elapsed since trauma was sustained, has important implications In a variety of forensic contexts. Such information could greatly aid the forensic diagnosis of child abuse, the reconstruction of events during a violent incident such as homicide or a road traffic accident, and assist in the identification of unknown remains. Forensic fracture dating has largely relied on radiographical and histological evidence, but has lacked precision and consistency. The research presented here alms to test the hypothesis that correlations exist between the histologically- and immunohistochemically-observable phenomena at a fracture site and the known trauma-death interval of an individual. This was achieved by comparing the known trauma-death interval (TDI) to the extent of healing visible on histological slides prepared from formalin-fixed, paraffin-embedded, decalcified blocks of bone excised from the fracture site of 52 rib, skull and femur fractures from 29 individual forensic cases submitted to the Medico-Legal Centre Sheffield between 1992 and 2002. The slides were stained with haematoxylin and eosin to stain nuclei and cytoplasm, Peris’ Prussian Blue stain for haemosiderin granules, mono-clonal anti-CD68 antibody for osteoclasts, and anti-bone sialoprotein antibody as an osteoblast and osteocyte marker. Quantifiable parameters such as the percentage cover of red blood cells, of living and necrotic compact bone, and the size, abundance and dispersal of immuno-positive and inflammatory cells were examined and compared to the TDI using human observers and Scion Image histomorphometry software. Statistically significant correlations were found between TDI and the presence of haemosiderin granules later than three days post-trauma; and the dispersal and location of CD68 positive cells; as well as the estimated percentage cover of fibroblasts and red blood cells at the fracture site. Other trends and correlations were found, which contribute to the understanding of bone’s immediate responses to trauma. It is hoped that this research may aid the prediction of the time elapsed since trauma in a forensic context and broaden the scope of trauma analysis in forensic anthropology

Manganese Toxicity: Accumulation in Bone, Effect on Brain Neurochemistry, and Impact on Adult Neurogenesis

O’Neal, Stefanie L. Ph.D., Purdue University, December 2015. Manganese Toxicity: Accumulation in Bone, Effect on Neurochemistry, Impact on Adult Neurogenesis. Major Professor: Wei Zheng