A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Combining molybdenum carbide with ceria overlayers to boost Mo/CeO2 catalyzed ammonia synthesis

The design of an efficient non-noble metal catalyst is of burgeoning interest for ammonia synthesis. Herein, we report a Mo₂C/CeO₂ catalyst that is superior in ammonia synthesis activity. In this catalyst, molybdenum carbide coexisted with the ceria overlayers which is from the ceria support as the strong metal–support interaction. There is a high proportion of low-valent Mo species, as well as high concentration of Ce³⁺ and surface oxygen species. The presence of Mo₂C and CeO₂ overlayers not only leads to enhancement of hydrogen and nitrogen adsorption, but also facilitates the desorption and exchange of adsorbed species with the gaseous reagents. Compared with the Mo/CeO₂ catalyst prepared without carbonization, the Mo₂C/CeO₂ catalyst is more than sevenfold higher in ammonia synthesis rate. This work not only presents an explicit example of designing Mo-based catalyst that is highly efficient for ammonia synthesis by tuning the adsorption and desorption properties of the reactant gases, but opens a perspective for other elements in ammonia synthesis.     

Regression of severe atherosclerotic plaque in patients with mild elevation of LDL cholesterol

BACKGROUND: Intensive risk factor reduction in patients with dyslipidemias and coronary atherosclerosis has been shown to result in alterations in coronary artery morphology and reduced clinical events. However, the impact of such interventions in populations with relatively normal levels of low-density lipoproteins (LDL) is unclear. METHODS: To test the hypothesis that intensive risk factor reduction results in angiographic regression in patients with only mildly elevated levels of LDL, 14 patients with angiographically proven coronary atherosclerosis were entered into the University of California Davis Coronary Artery Disease Regression Program and intensively treated with pharmacologic and nonpharmacologic interventions for 2 years. Quantitative angiography was performed prior to and after 2 years of therapy to determine changes in coronary artery diameter. RESULTS: As a result of this program, dietary fat intake was reduced by 58% and LDL fell from 120 +/- 7 mg/dL to 104 +/- 6 mg/dL (p = 0.05). The average diameter of the measured arterial locations (including all 53 stenoses and 292 nondiscrete regions) on study entry was 2.74 +/- 0.05 mm. After 24 months, there was a net increase in arterial diameter (regression) of +0.05 +/- 0.04 mm to 2.81 +/- 0.05 mm (p = 0.01). While there was no significant change in the average diameter of discrete stenoses, all 8 lesions > or = 50% initial diameter narrowing regressed, with a mean diameter change of + 0.2 mm. Conversely, only 1 of 8 mild lesions < or = 20% regressed, while 4 progressed. Intermediate lesions (20% to 50%, n = 37) had balanced progression and regression. CONCLUSIONS: When examined as a continuous variable, there was a significant linear correlation between initial lesion severity (% stenosis) and the extent of regression (mm). Therefore, risk factor reduction (dietary therapy, exercise, psycho-social counseling, and lipid lowering therapy) in patients with only mild dyslipidemia results in angiographic regression of more severe lesions (> 50% initial stenosis), but does not prevent progression of mild lesions (< 20%). These findings demonstrate that intensive risk factor reduction in patients with only mild elevation of lipids beneficially influences the morphology of the most severe lesions.     

Treatment and prognosis of secondary glaucoma in Fuchs' heterochromic iridocyclitis

After reviewing the records of 111 patients with Fuchs' heterochromic iridocyclitis, we studied the therapy and prognosis of secondary glaucoma in 30 of these 111 patients (27%) who had glaucoma or could be considered glaucoma suspects. Maximal medical therapy was unsuccessful in 22 of the 30 patients (73%). Surgical intervention (mostly trabeculectomies, half with 5-fluorouracil) successfully controlled intraocular pressure (< or = 21 mm Hg with or without medication) in 13 of the 18 operated-on patients (72%) after a mean follow-up of 26 months. All successfully operated-on patients retained a visual acuity of 20/80 or better. We had favorable results, possibly because of modern surgical techniques (use of 5-fluorouracil, sodium hyaluronate) or earlier surgical intervention, or both.     

Finite-difference time-domain simulation of scattering from objectsin continuous random media

A three-dimensional (3D) finite-difference time-domain (FDTD) scheme is introduced to model the scattering from objects in continuous random media. FDTD techniques have been previously applied to scattering from random rough surfaces and randomly placed objects in a homogeneous background, but little has been done to simulate continuous random media with embedded objects where volumetric scattering effects are important. In this work, Monte Carlo analysis is used in conjunction with FDTD to study the scattering from perfectly electrically conducting (PEC) objects embedded in continuous random media. The random medium models under consideration are chosen to be inhomogeneous soils with a spatially fluctuating random permittivities and prescribed correlation functions. The ability of frequency averaging techniques to discriminate objects in this scenarion is also briefly investigated. The simulation scheme described in this work can be adapted and used to help in interpreting the scattered field data from targets in random environments such as geophysical media, biological media, or atmospheric turbulence     

Reliability Analysis of Single-Degree-of-Freedom Elastoplastic Systems. II: Suboptimal Excitations

A method for constructing an approximation of the critical excitation that drives an elastoplastic system from rest to a target threshold at a specified time instant, referred to as the “suboptimal excitation,” is presented in this paper. It is based on the observations gained from study of the critical excitations in the companion paper. Essentially, for the usual case of interest where the failure time is not small compared to the natural period, the duration of the positive and negative pulses of the critical excitation are roughly equal to half of the natural period. This consideration allows for a simple intuitive approximation of the critical excitation. The amplitudes of the positive and negative pulses are obtained in closed forms using energy balance. Numerical investigations show that the critical excitations are well approximated by the suboptimal excitations.     

DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

The challenge of Duchenne muscular dystrophy (DMD) carrier identification resides in the ability to identify the presence of a mutant gene over the background contributed by the normal allele. Current diagnosis of carrier status when a deletion has been identified in a proband is based on an analysis of a gene dosage. We present a diagnostic strategy that uses fluorescence in situ hybridization (FISH) to detect female carriers with major deletions in the dystrophin gene. We screened a human X-chromosome-derived genomic library with a full-length dystrophin cDNA and isolated 15 dystrophin-specific cosmids that contain DMD gene exons. Six cosmids were further tested as FISH probes in control individuals and subsequently applied on chromosomes from eight males with DMD and known deletions and on samples from three female carriers. As expected, X chromosomes in normal females displayed four signals, two for the DMD-specific probe and two for the X-chromosome centromeric probe. Hybridization on chromosomal spreads from carriers of deletions revealed only one signal from the DMD-specific probe and two from the control centromeric probe. Males carrying deletions showed no DMD-specific signal for the deleted exons tested. Our data indicate that FISH could represent an alternative method for the detection of female carriers with DMD gene deletions.     

Using indices to differentiate dimensions of knowledge regarding modes of HIV transmission in the U.S. population, 1987-1989

Spores of Bacillus subtilis NCTC 8236 were treated with glutaraldehyde, Lugol's iodine, polyvinylpyrrolidone-iodine (PVP-I), sodium hypochlorite or sodium dichloroisocyanurate (NaDCC). After exposure survivors were enumerated on nutrient agar containing potential revival agents (subtilisin, lysozyme, calcium dipicolinate, calcium lactate). Of these, only calcium lactate had any significant enhancing effect and then only with iodine-treated spores. Calcium lactate (9 mmol l-1) in nutrient broth enhanced the rate and extent of germination of iodine-treated spores but not of spores previously subjected to glutaraldehyde, hypochlorite or NaDCC.