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Summary: Germline mutations in tubulin beta class I (TUBB), which encodes one of the β‐tubulin isoforms, were previously associated with neurological and cutaneous abnormalities. Here, we describe the first case of inherited bone marrow (BM) failure, including marked thrombocytopenia, morphological abnormalities, and cortical dysplasia, associated with a de novo p.D249V variant in TUBB. Mutant TUBB had abnormal cellular localisation in transfected cells. Following interferon/ribavirin therapy administered for transfusion‐acquired hepatitis C, severe pancytopenia and BM aplasia ensued, which was unresponsive to immunosuppression. Acquired chromosome arm 6p loss of heterozygosity was identified, leading to somatic loss of the mutant TUBB allele. [ABSTRACT FROM AUTHOR]

Reports on the development of a bullet signature measurement system based on a stylus instrument of the National Institute of Standards and Technology in the United States. Goal for the support of the National Integrated Ballistics Information Network; Set of digitized bullet signatures profiled from master bullets; Control of the tool path to qualify bullet signature differences.

Information about intestinal parasites in Hawaii and the Pacific is not current. We reviewed reports on fecal samples obtained from two laboratories and found recovery rates of 9.3% in Hawaii, 14.2% in Saipan, 18% in Rota and 9.5% in Guam. The most frequently identified parasites were Blastocystis hominis (7.6%), Giardia lamblia (1.2%), and Entamoeba coli (0.7%). Although the incidence and types of organisms have changed with time, physicians in Hawaii should continue looking for intestinal parasites. [ABSTRACT FROM AUTHOR]

Summary Saccharomyces cerevisiae Spa2p is a component of polarisome that controls cell polarity. Here, we have characterized the role of its homologue, CaSpa2p, in the polarized growth in Candida albicans . During yeast growth, GFP-tagged CaSpa2p localized to distinct growth sites in a cell cycle-dependent manner, while during hyphal growth it persistently localized to hyphal tips throughout the cell cycle. Persistent tip localization of the protein was also observed in Catup1 Δ and Canrg1 Δ, mutants constitutive for filamentous growth. Caspa2 Δ exhibited defects in polarity establishment and maintenance, such as random budding and failure to confine growth to a small surface area leading to round cells with wide, elongated bud necks and markedly thicker hyphae. It was also defective in nuclear positioning, presumably a result of defective interactions between cytoplasmic microtubules with certain polarity determinants. The highly conserved SHD-I and SHD-V domains were found to be important and responsible for different aspects of CaSpa2p function. Caspa2 Δ exhibited no virulence in the mouse systemic candidiasis model. Because of the existence of distinct growth forms and the easy control of the switch between them in vitro , C. albicans may serve as a useful model in cell polarity research. [ABSTRACT FROM AUTHOR]

A bullet signature measurement system based on a stylus instrument was developed at the National Institute of Standards and Technology (NIST) for the signature measurements of NIST RM (Reference Material) 8240 standard bullets. The standard bullets are developed as a reference standard for bullet signature measurements and are aimed to support the recently established National Integrated Ballistics Information Network (NIBIN) by the Bureau of Alcohol, Tobacco and Firearms (ATF) and the Federal Bureau of Investigation (FBI). The RM bullets are designed as both a virtual and a physical bullet signature standard. The virtual standard is a set of six digitized bullet signatures originally profiled from six master bullets fired at ATF and FBI using six different guns. By using the virtual signature standard to control the tool path on a numerically controlled diamond turning machine at NIST, 40 RM bullets were produced. In this paper, a comparison parameter and an algorithm using auto-and cross-correlation functions are described for qualifying the bullet signature differences between the RM bullets and the virtual bullet signature standard. When two compared signatures are exactly the same (point by point), their cross-correlation function (CCF) value will be equal to 100%. The measurement system setup, measurement program, and initial measurement results are discussed. Initial measurement results for the 40 standard bullets, each measured at six land impressions, show that the CCF values for the 240 signature measurements are higher than 95%, with most of them even higher than 99%. These results demonstrate the high reproducibility for both the manufacturing process and the measurement system for the NIST RM 8240 standard bullets.