Magnetic resonance imaging of the collateral ligaments and the anatomic quadrants of the knee

Injuries to the lateral and medial supporting structures of the knee can be significantly disabling and somewhat difficult to detect and evaluate clinically. An accurate imaging evaluation of these structures requires the use of the appropriate MR imaging sequences and the detailed knowledge of the anatomic structures that are present in these locations. Normal function is dependent on the integrity of the complex functional structures and effective clinical treatment, including surgical repair, of these structures is predicated on an optimal diagnostic evaluation. A successful diagnostic evaluation can expedite treatment and provide the best opportunity for a favorable long-term outcome.     

Extramedullary intradural spinal tumors: a pictorial review

Defining the location of tumors and mass lesions of the spine in relation to the spinal cord and the dura is of the utmost importance as certain types of lesions tend to occur in certain locations. The differential diagnostic considerations will vary according to location of the mass lesion as will the treatment and prognosis of these various lesions. The category of extramedullary intradural masses includes a variety of lesions from meningiomas and nerve sheath tumors (neurofibromas, schwannomas) to less common tumors (hemangiopericytoma), metastases, benign tumors (lipoma, dermoid, epidermoid), inflammatory disorders (arachnoid adhesions, sarcoidosis), vascular lesions (spinal-dural arteriovenous fistula), and cystic lesions (perineural or Tarlov cysts). Characteristic magnetic resonance imaging findings are helpful for localization and characterization of these lesions before treatment, as well as for follow-up after treatment. We present a pictorial review of the various extramedullary intradural lesions of the spine, with pathologic correlation. We discuss imaging features that are typical for the various entities and describe various therapeutic options that are important considerations for surgical treatment of these lesions.     

The filaggrin null genotypes R501X and 2282del4 seem not to be associated with psoriasis: results from general population study and meta‐analysis

Background Psoriasis vulgaris could be associated with the filaggrin null genotype since certain known susceptibility loci for psoriasis are shared with susceptibility loci for atopic dermatitis. Furthermore, filaggrin expression is lowered in psoriatic skin lesions but normally expressed in uninvolved skin. So far five relatively small patient‐based case‐control studies have rejected a possible association between psoriasis and the two most prevalent filaggrin null mutations, 2282del4 and R501X. Objectives To reinvestigate a possible association between psoriasis and filaggrin null mutation status by using cross‐sectional general population questionnaire data. Also, to perform a meta‐analysis including published studies that investigated the relation between filaggrin gene mutations R501X and 2282del4, respectively, and psoriasis vulgaris. Methods Between June 2006 and May 2008, a cross‐sectional study was performed in the general population in Copenhagen. A random sample of 7931 subjects aged 18–69 years was invited to participate in a general health examination including a questionnaire and 3471 (43.7%) participated. A total of 3335 (96.1%) individuals were filaggrin genotyped for the 2282del4 and R501X mutations. A meta‐analysis was undertaken to investigate the relation between filaggrin gene mutations and psoriasis vulgaris. Results The prevalence of self‐reported psoriasis was 6.7% among the 3240 respondents. The prevalence of the R501X and 2282del4 filaggrin null genotypes was 9.3% in subjects who reported psoriasis and 8.0% in subjects who did not report psoriasis (OR = 1.28; 95% CI = 0.74–1.89; P = 0.78). The meta‐analysis found no association between the filaggrin null genotypes R501X and 2282del4 and psoriasis (OR = 1.04; 95% CI = 0.81–1.35). Conclusions Psoriasis was not associated with the R501X and 2282del4 filaggrin null genotypes in a general population study and in a meta‐analysis on published studies.     

PREVALENCE OF ENDEMIC GOITRE IN SCHOOL CHILDREN: SHIRUR (DIST. PUNE,MAHARASHTRA)

A survey for estimation of goitre in school children in the Rural Health Training Centre, Shirur area was undertaken. A total of 4664 students from 17 schools were surveyed. The goitre prevalence was found to be 59.8% with visible goitre rate of 6.2% in pre- and peri-adolescent (10–19 years) age group. Thus a highly endemic goitre focus was located in Shirur, area in Pune District (Maharashtra). This area is located on the eastern tail-end slopes of Sahyadri Hills in Balaghat ranges, situated at an altitude of 533 metres. The area is generally drought prone and receives scanty rain, with poor agricultural practices. Environmental deficiency of iodine was found to be the main cause for this high prevalence of goitre.KEY WORDS: Goitre endemic, Iodine     

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23- q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present inhomozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.