Metastatic parathyroid carcinoma in the MEN2A syndrome

We report a patient with a metastatic parathyroid carcinoma and medullary carcinoma of the thyroid. This patient represents a variation of the multiple endocrine neoplasia syndrome (MEN) type 2A. There was no evidence of a phaeochromocytoma. The case illustrates the difficulties that may be encountered in localising the source of PTH secretion; the patient underwent four unsuccessful exploratory operations of the neck and mediastinum before further investigations revealed a single metastatic deposit of parathyroid carcinoma involving the first thoracic vertebra. PCR amplification and sequencing of the RET oncogene from the metastatic parathyroid carcinoma and genomic DNA revealed a heterozygous mutation (Cys634Tyr) in exon 11, as has previously been described to occur in MEN 2A. In addition, loss of tumour heterozygosity was demonstrated at loci from chromosomes 1, 2, 3p, 13q and 16p. This represents the first report of a parathyroid carcinoma in a MEN2A patient, in which the multiple allelic deletions are consistent with the generalised losses observed in aggressive tumours.     

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5-1.0 per 1000 and a ratio of sibling risk to population prevalence (lambda(s)) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.     

Direct finite element design optimisation of the cagelessreluctance synchronous machine

The finite element analysis method is used directly in optimisation algorithms to optimise in multidimensions the design of the cageless reluctance synchronous machine. Two optimisation methods are evaluated to minimise or maximise the function value. These are the direction set method of Powell and the quasi-Newton algorithm. Both methods proved to be successful, with some advantages and disadvantages. Using these methods at a power level below 10 kW, results are given of structures of the reluctance synchronous machine which have been optimised according to specific criteria. Calculated and measured results show that the maximum torque optimum designed reluctance synchronous machine has the advantages of high power density and high efficiency     

Shear and extensional flow of reinforced plastics in injection molding. I. Effects of temperature and shear rate with bulk molding compound

Capillary flow studies on bulk molding compound (BMC) using an instrumented injection-molding machine are reported. The significance of extensional flow effects with fiber-reinforced materials is emphasized. The extensional flow behavior in converging dies is modeled, and a means of evaluating both extensional and shear viscosity from capillary flow data is proposed. Methods of correcting results for the effect of deformation heating are discussed. The shear and extensional flow behavior of BMC in the temperature region 18 to 58°C can be fitted to a simplified Arrhenius Law.     

Molecular analysis of cellulose biosynthesis in Arabidopsis

Cellulose, an abundant, crystalline polysaccharide, is central to plant morphogenesis and to many industries. Chemical and ultrastructural analyses together with map-based cloning indicate that the RSW1 locus of Arabidopsis encodes the catalytic subunit of cellulose synthase. The cloned gene complements the rsw1 mutant whose temperature-sensitive allele is changed in one amino acid. The mutant allele causes a specific reduction in cellulose synthesis, accumulation of noncrystalline beta-1,4-glucan, disassembly of cellulose synthase, and widespread morphological abnormalities. Microfibril crystallization may require proper assembly of the RSW1 gene product into synthase complexes whereas glucan biosynthesis per se does not.     

A transient induction motor model including saturation and deep bareffect

Transient cage induction motor models for use in inverter-fed drives and controllers are reviewed. A simple transient model is presented that includes rotor deep bar effect and magnetic saturation of the magnetising and rotor leakage flux paths. The improved model requires motor details in the form of simple impedance versus frequency characteristics which can be obtained from a variety of external sources. These can range typically from detailed steady-state finite-element solutions to simple experimental measurements. The model is verified experimentally using a 75 kW, 4 pole vector controlled AC motor drive     

Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL): initial reliability and validity data

OBJECTIVE: To describe the psychometric properties of the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL) interview, which surveys additional disorders not assessed in prior K-SADS, contains improved probes and anchor points, includes diagnosis-specific impairment ratings, generates DSM-III-R and DSM-IV diagnoses, and divides symptoms surveyed into a screening interview and five diagnostic supplements. METHOD: Subjects were 55 psychiatric outpatients and 11 normal controls (aged 7 through 17 years). Both parents and children were used as informants. Concurrent validity of the screen criteria and the K-SADS-PL diagnoses was assessed against standard self-report scales. Interrater (n = 15) and test-retest (n = 20) reliability data were also collected (mean retest interval: 18 days; range: 2 to 36 days). RESULTS: Rating scale data support the concurrent validity of screens and K-SADS-PL diagnoses. Interrater agreement in scoring screens and diagnoses was high (range: 93% to 100%). Test-retest reliability kappa coefficients were in the excellent range for present and/or lifetime diagnoses of major depression, any bipolar, generalized anxiety, conduct, and oppositional defiant disorder (.77 to 1.00) and in the good range for present diagnoses of posttraumatic stress disorder and attention-deficit hyperactivity disorder (.63 to .67). CONCLUSION: Results suggest the K-SADS-PL generates reliable and valid child psychiatric diagnoses.     

Estimating room temperatures from fires along walls and in corners

Determination of temperatures associated with room fires provides a means of assessing an important aspect of fire hazard: the likelihood of the occurrence of flashover. Layer temperatures in excess of 600°C have been associated with the occurrence of flashover. A data correlation has previously been presented to estimate layer temperatures for fires burning in the center of rooms. For fires in corners and along walls, restricted entrainment results in higher layer temperatures than predicted by the previous correlation. Modification factors for the previous correlation are developed to extend its applicability to wall and corner burning geometries. The present analysis suggests that a fire in a corner may cause flashover with only half the heat release rate necessary for a fire burning in the center of a room. Reference: Frederick Mowrer and Robert Williamson, Estimating Room Temperatures from Fires along Walls and in Corners,Fire Technology, Vol. 23, May 1987, pp. 133–145.