CALR frameshift mutation detection in myeloproliferative neoplasms by microfluidic chip analysis.

Background: CALR mutation analysis is routinely used to diagnose BCR/ABL1-negative myeloproliferative neoplasms. The 2 most common CALR mutations are a 52-base pair (bp) deletion and a 5-bp insertion, which account for approximately 85% of cases.

Methods: To evaluate our new microfluidic chip assay, we tested CALR mutant and wild-type specimens that were previously analyzed using conventional methods at a reference laboratory.

Identification of traits underpinning good breadmaking performance of wheat grown with reduced nitrogen fertilisation.

Background: Nitrogen fertiliser is the major input and cost for wheat production, being required to support the development of the canopy to maximise yield and for the synthesis of the gluten proteins that are necessary for breadmaking. Consequently, current high-yielding cultivars require the use of nitrogen fertilisation levels above the yield optimum to achieve the grain protein content needed for breadmaking. This study aimed to reduce this requirement by identifying traits that allow the use of lower levels of nitrogen fertiliser to produce wheat for breadmaking.

Management of high-dose intrathecal baclofen pump explant: A case report.

Background: Intrathecal baclofen (ITB) is a proven, effective treatment for refractory spasticity and chronic pain, with applications ranging from spinal cord injury to amyotrophic lateralsclerosis (ALS). Despite its effectiveness, the withdrawal syndrome of intrathecal baclofen can be life-threatening.

Case Report: This case describes the treatment of a patient with chronic spasticity related to ALS with an ITB pump infection requiring explant and a prolonged period of antibiotics before reimplantation.

Levels of Cognitive Control: A Functional Magnetic Resonance Imaging-Based Test of an RDoC Domain Across Bipolar Disorder and Schizophrenia.

In recent years, the boundaries of psychopathology as defined by diagnostic categories have been criticized as inadequately 'carving nature at its joints' with respect to the neurobiology of major mental disorders. In 2010 the NIMH launched the Research Domain Criteria (RDoC) framework for understanding mental illnesses as brain circuit disorders that extend beyond DSM-defined diagnoses. In the present study we focus on cognitive dysfunction, a core feature of schizophrenia (SZ) and bipolar disorder (BPD), and use functional magnetic resonance imaging (fMRI) during a cognitive control (CC) task in recent onset patients to test the hypothesis that at a behavioral and underlying neural circuitry level these deficits exist on a continuum (as opposed to showing categorical differences) across the two disorders.

Superolateral Hoffa's Fat Pad Edema in Collegiate Volleyball Players.

Objective: Superolateral Hoffa's fat pad (SHFP) edema is a previously described magnetic resonance (MR) finding located between the patellar tendon and the lateral femoral condyle. The purpose of our study was to determine the prevalence and clinical significance of SHFP edema in female collegiate volleyball players.

Materials And Methods: Sixteen female collegiate volleyball players were consented for bilateral knee evaluations which consisted of history, physical examination and MR imaging.

Fat, fibre and cancer risk in African Americans and rural Africans.

Rates of colon cancer are much higher in African Americans (65:100,000) than in rural South Africans (<5:100,000). The higher rates are associated with higher animal protein and fat, and lower fibre consumption, higher colonic secondary bile acids, lower colonic short-chain fatty acid quantities and higher mucosal proliferative biomarkers of cancer risk in otherwise healthy middle-aged volunteers. Here we investigate further the role of fat and fibre in this association.

The anteromedial tibial rim sign: an indicator of patellotibial impaction in acute anterior cruciate ligament tears.

Objective: We have encountered unexplained anteromedial tibial rim edema in acute anterior cruciate ligament (ACL) tears. Our goal was to determine the incidence, internal derangements, and mechanism of injury in patients with anteromedial tibial rim edema (rim sign).

Materials And Methods: A retrospective review of ACL tears diagnosed by magnetic resonance imaging over 7 years was performed.

EGFR mutations in US Hispanic versus non-Hispanic white patients with lung adenocarcinoma.

Context: Lung cancer is the leading cause of cancer deaths worldwide. First-generation tyrosine kinase inhibitors improve progression-free survival in lung cancers with epidermal growth factor receptor (EGFR) mutations. EGFR mutations occur predominantly in exons 19 and 21 in lung adenocarcinomas of Asians (∼30%), whites (∼15%), and African Americans (∼19%).

Diet, microbiota, and microbial metabolites in colon cancer risk in rural Africans and African Americans.

Background: Epidemiologic studies have suggested that most cases of sporadic colon cancer can be attributed to diet. The recognition that colonic microbiota have a major influence on colonic health suggests that they might mediate colonic carcinogenesis.

Objective: To examine the hypothesis that the influence of diet on colon cancer risk is mediated by the microbiota through their metabolites, we measured differences in colonic microbes and their metabolites in African Americans with a high risk and in rural native Africans with a low risk of colon cancer.

Structural characterization of the organic solvent-stable cholesterol oxidase from Chromobacterium sp. DS-1.

Cholesterol oxidase is of significant commercial interest as it is widely used as a biosensor for the detection of cholesterol in clinical samples, blood serum and food. Increased stability of this enzyme with regards to temperature and different solvent conditions are of great importance to the reliability and versatility of its applications. We here report the crystal structure of the cholesterol oxidase of Chromobacterium sp.

Preliminary structural investigations of the Eut-L shell protein of the ethanolamine ammonia-lyase metabolosome of Escherichia coli.

The ethanolamine ammonia-lyase microcompartment is composed of five different shell proteins that have been proposed to assemble into symmetrically shaped polyhedral particles of varying sizes. Here, preliminary X-ray analysis of crystals of the bacterial microcompartment shell protein Eut-L from Escherichia coli is reported. Cloning, overexpression and purification resulted in highly pure protein that crystallized readily under many different conditions.