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.     

High-performance MIM capacitor using ALD high-k HfO/sub 2/-Al/sub 2/O/sub 3/ laminate dielectrics

For the first time, we successfully fabricated and demonstrated high performance metal-insulator-metal (MIM) capacitors with HfO/sub 2/-Al/sub 2/O/sub 3/ laminate dielectric using atomic layer deposition (ALD) technique. Our data indicates that the laminate MIM capacitor can provide high capacitance density of 12.8 fF//spl mu/m/sup 2/ from 10 kHz up to 20 GHz, very low leakage current of 3.2 /spl times/ 10/sup -8/ A/cm/sup 2/ at 3.3 V, small linear voltage coefficient of capacitance of 240 ppm/V together with quadratic one of 1830 ppm/V/sup 2/, temperature coefficient of capacitance of 182 ppm//spl deg/C, and high breakdown field of /spl sim/6 MV/cm as well as promising reliability. As a result, the HfO/sub 2/-Al/sub 2/O/sub 3/ laminate is a very promising candidate for next generation MIM capacitor for radio frequency and mixed signal integrated circuit applications.     

Algebraic theory of optimal filterbanks

We introduce an optimality theory for finite impulse response (FIR) filterbanks using a general algebraic point of view. We consider an admissible set /spl Lscr/ of FIR filterbanks and use scalability as the main notion based on which performance of the elements in /spl Lscr/are compared. We show that quantification of scalability leads naturally to a partial ordering on the set /spl Lscr/. An optimal solution is, therefore, represented by the greatest element in /spl Lscr/. It turns out that a greatest element does not necessarily exist in /spl Lscr/. Hence, one has to settle with one of the maximal elements that exist in /spl Lscr/. We provide a systematic way of finding a maximal element by embedding the partial ordering at hand in a total ordering. This is done by using a special class of order-preserving functions known as Schur-convex. There is, however, a price to pay for achieving a total ordering: there are infinitely many possible choices for Schur-convex functions, and the optimal solution specified in /spl Lscr/ depends on this (subjective) choice. An interesting aspect of the presented algebraic theory is that the connection between several concepts, namely, principal component filterbanks (PCFBs), filterbanks with maximum coding gain, and filterbanks with good scalability, is clearly revealed. We show that these are simply associated with different extremal elements of the partial ordering induced on /spl Lscr/ by scalability.     

Smooth muscle of the bladder in the normal and the diseased state: pathophysiology, diagnosis and treatment

The smooth muscle of the normal bladder wall must have some specific properties. It must be very compliant and able to reorganise itself during filling and emptying to accommodate the change in volume without generating any intravesical pressure, but whilst maintaining the normal shape of the bladder. It must be capable of synchronous activation to generate intravesical pressure at any length to allow voiding. The cells achieve this through spontaneous electrical activity combined with poor electrical coupling between cells, and a dense excitatory innervation. In the diseased state, alterations of the smooth muscle may lead to failure to store or failure to empty properly. The diseased states discussed are bladder instability and diabetic neuropathy. Bladder instability is characterised urodynamically by uninhibitable rises in pressure during filling, and is seen idiopathically and in association with bladder outflow obstruction and neuropathy. In diabetic neuropathy, many of the smooth muscle changes are a consequence of diuresis, but there is evidence for alterations in the sensory arm of the micturition reflex. In the unstable bladder, additional alterations of the smooth muscle are seen, which are probably caused by the patchy denervation that occurs. The causes of this denervation are not fully established. Nonsurgical treatment of instability is not yet satisfactory; neuromodulation has some promise, but is expensive, and the mechanisms poorly understood. Pharmacological treatment is largely through muscarinic receptor blockade. Drugs to reduce the excitability of the smooth muscle are being sought, since they may represent a better pharmacological option.     

Chronic wounds

Skin ulcers are the most common chronic wounds. Current management principles and theories of causation of the most common ulcers--pressure, diabetic, and venous--are described. Issues related to occlusive dressings, compression dressings, topical antimicrobials, debridement, growth factors, grafting, and bioengineered tissue therapy are discussed. Special emphasis is placed on regulatory concerns.     

Prevalence of multiple cardiovascular disease risk factors among women in the United States, 1992 and 1995: the Behavioral Risk Factor Surveillance System

We sought to examine the prevalence of self-reported multiple cardiovascular disease (CVD) risk factors (hypertension, high blood cholesterol, diabetes, overweight, and current smoking) among women in 1992 and 1995 in the United States using data from the Behavioral Risk Factor Surveillance System. In 1992, 37.5%, 34.4%, and 28.1% of women had zero, one, and two or more of the five risk factors, respectively. In 1995, the respective estimates were 35.5%, 34.3%, and 30%. In both years, the prevalence of two or more risk factors increased with age, decreased with educational level, was higher among black women (lowest among Hispanic women and women of other ethnic groups), and higher among women reporting cost as a barrier to healthcare. The percentage of women with two or more risk factors was higher in 1995 than in 1992 for 35 of 48 states, being statistically significant for 7 states. The percentage of women with at least two risk factors was not significantly lower in 1995 than in 1992 for any state. A higher percentage of women reported having multiple CVD risk factors in 1995 compared with 1992. A multifactorial approach to primary prevention and risk factor reduction should be encouraged to help reduce the prevalence and burden of CVD among women.