Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services

In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located in tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure and characteristics of three cancer genetic services in Brazilian public health care hospitals and discuss alternatives for the identification and prevention of hereditary cancer syndromes in developing countries. The three services presented here are similar in their structure, routine procedures for cancer risk estimation and criteria for the indication of genetic testing. They all demand that genetic counseling be an essential part of the cancer risk evaluation process, before and after cancer predisposition testing. However, when high-risk patients are identified, all services describe difficulties in the access and continuity of genetic and medical services to the patient and his/her at-risk relatives. The services differ in the type of population served, reflecting distinct referral guidelines. This study emphasizes the importance of the creation of new cancer genetic services in other Brazilian regions and the necessity for establishing a collaborative network to facilitate the diagnosis and research of cancer genetic syndromes.     

Strengthening genetic services in primary care for Asian Americans and Pacific Islanders

The Association of Asian Pacific Community Health Organizations (AAPCHO) is a national membership organization of community health centers (CHCs) that serve medically underserved Asian Americans and Pacific Islanders (AAPIs) with limited English-speaking proficiency and low income. OBJECTIVES: In 1995, AAPCHO was funded for a 3-year national genetics training project to improve genetics training among primary care providers at CHCs and strengthen linkages with tertiary genetic centers (TGCs). Three model linkages between CHCs and TGCs were documented on the coordination of genetic services for medically underserved AAPIs. METHODS: Guidelines were developed for three CHCs to document their genetic programs and linkages with TGCs. In addition, one clinic conducted a mail survey to assess understanding of prenatal genetic counseling sessions by patients that visited the clinic during the past 2 years. RESULTS: Model linkages between CHCs and TGCs to improve cultural and linguistic accessibility for patients include formal coordination between the CHCs and TGCs for the delivery of genetic services and the provision of varying levels of genetic services at the CHC. From the patient survey, there was a 59% response rate among 70 surveys mailed to former patients. The survey results showed that while a majority of patients understood and recalled key genetic concepts, one-fifth of patients experienced difficulty understanding their genetic counseling sessions. CONCLUSION: Based on model linkages between CHCs and TGCs and the patient satisfaction survey results, the following strategies are recommended to improve accessibility of genetic services for medically underserved AAPIs: (1) genetics education should be developed for all levels of health center staff; (2) counseling should be culturally sensitive and focus on key issues that must be conveyed for appropriate informed consent; (3) genetics education should employ the use of translated audiovisual aids and brochures to improve understanding; (4) genetic services should be coordinated between CHCs and TGCs to provide culturally and linguistically competent care for medically underserved AAPIs, and (5) financial mechanisms should be available to support genetic testing of patients and their families with little or no coverage for genetic services.     

Assessment of two 'low-tech' genetic health care procedures performed by prenatal care providers in Washington state: implications for future policy development activities

Equity in health care demands that patients be treated fairly, impartially and with justice. Health care professionals and others have long been aware of the concept of equity, and the many inequities that exist in our health care system. As part of our analysis of postpartum data collected between 1993 and 1996 by the Washington Pregnancy Risk Assessment Monitoring System (PRAMS) from self-administered patient surveys, we explored equity as it pertains to two 'low-tech' prenatal genetic health care procedures: (1) whether or not prenatal care providers asked their patients about a family history of birth defects/genetic disorders, and (2) whether or not prenatal care providers talked to their patients about prenatal testing for birth defects/genetic disorders. Overall, about 80% of pregnant women reported that they had been asked about their family history of birth defects/genetic disorders, and about 85% said that their prenatal care provider(s) had talked to them about prenatal testing. Maternal characteristics associated with a lower likelihood of receiving these two low-tech genetic health care procedures appeared to be young maternal age, and low education and income levels, regardless of where women with these attributes received their prenatal care (e.g. community, migrant, health department or military health care clinics, private physicians, or health maintenance organizations).     

Personal characteristics of older primary care patients who provide a buccal swab for apolipoprotein E testing and banking of genetic material: the spectrum study

OBJECTIVE: To determine the personal characteristics and reasons associated with providing a buccal swab for apolipoprotein E (APOE) genetic testing in a primary care study. METHODS: The study sample consisted of 342 adults aged 65 years and older recruited from primary care settings. RESULTS: In all, 88% of patients agreed to provide a DNA sample for APOE genotyping and 78% of persons providing a sample agreed to banking of the DNA. Persons aged 80 years and older and African-Americans were less likely to participate in APOE genotyping. Concern about confidentiality was the most common reason for not wanting to provide a DNA sample or to have DNA banked. CONCLUSION: We found stronger relationships between sociodemographic variables of age and ethnicity with participation in genetic testing than we did between level of educational attainment, gender, function, cognition, and affect.     

Internal wave reflections and transmissions arising from a non-uniform mesh. Part I: An analysis for the Crank–Nicolson linear finite element scheme

This is the first of a series of three related papers dealing with some of the consequences of non-uniform meshes in a numerical model. In this paper the accuracy of the Crank–Nicolson linear finite element scheme, which is applied to the linear shallow water equations, is examined in the context of a single abrupt change in nodal spacing. The (in)accuracy is quantified in terms of reflection and transmission coefficients. An incident wave impinging on the interface between two regions with different nodal spacings is shown to give rise to no reflected waves and two transmitted waves. The analysis is verified using three different wavelengths (2Δx, 4Δx 8Δx) in three ‘hot-start’ numerical experiments with a mesh expansion factor of 2 and three experiments with a mesh contraction factor of 1/2. An energy flux analysis based on the concept of group velocity shows that energy is conserved across the interface.     

Getting ready for the future: integration of genomics into public health research, policy and practice in Europe and globally

The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges.     

Wronskian,Gramian, Pfaffian and periodic-wave solutions for a (3+1)-dimensional generalized nonlinear evolution equation arising in the shallow water waves

Application of the shallow water waves in environmental engineering and hydraulic engineering is seen. In this paper, a (3+1)-dimensional generalized nonlinear evolution equation (gNLEE) for the shallow water waves is investigated. The Nth-order Wronskian, Gramian and Pfaffian solutions are proved, where N is a positive integer. Soliton solutions are constructed from the Nth-order Wronskian, Gramian and Pfaffian solutions. Moreover, we analyze the second-order solitons with the influence of the coefficients in the equation and illustrate them with graphs. Through the Hirota-Riemann method, one-periodic-wave solutions are derived. Relationship between the one-periodic-wave solutions and one-soliton solutions is investigated, which shows that the one-periodic-wave solutions can approach to the one-soliton solutions under certain conditions. We reduce the (3+1)-dimensional gNLEE to a two-dimensional planar dynamic system. Based on the qualitative analysis, we give the phase portraits of the dynamic system.

     

Transport coefficients of air in the region of temperatures from 3000 to 25,000 ° K and pressures of 0.1, 1, 10, and 100 atm

In the article a calculation is made of the transport properties of air in the region of temperatures from 3000 to 25,000 °K and pressures of 0.1, 1, 10, and 100 atm. The calculations are made within the framework of molecular-kinetic theory in a first approximation of the distribution function by the Chapman-Enskog method, taking account of the first four terms of a series expansion by Sonin polynomials. The collision integrals _ij ^l,s of the air components (N₂-N₂, O₂-O₂, NO-NO, N₂-O₂, N₂-NO, O₂-NO, N₂-N, N₂-O, O₂-N, O₂-O, N-NO, O-NO, N-N, O-O, O-N, e-N, e-O, e-N₂, e-O₂, e-NO, N-N⁺, O-O⁺, N-O⁺, O-N⁺, electron-ion, ion-ion, electron-electron) of the ordersl=1, 4 and s=l, (8-l) are calculated. As far as possible the collision integrals presented are calculated on the basis of experimentally measured interaction potentials obtained through the direct scattering of atomic and molecular beams on gas targets or other beams. The missing information on interaction potentials is borrowed from works on spectroscopic analysis. The scattering of an electron on an oxygen atom is calculated in the framework of a quantum-mechanical analysis. The collision integrals presented for charged components of the air were calculated numerically for the Debye-Hückel screening potential. The collision integral moments obtained in the work can be used to calculate the kinetic coefficients for an arbitrary mixture of nitrogen and oxygen, including the case of a variable elementary composition.Translated from Zhurnal Prikladnoi Mekhaniki i Tekhnicheskoi Fiziki, No. 2, pp. 80–90, March–April, 1973.In conclusion the author thanks V. G. Sevast'yanenko under whose guidance the work was carried out.     

Internal wave reflections and transmissions arising from a non-uniform mesh. Part III: The occurrence of evanescent waves in the Crank-Nicolson linear finite element scheme

The numerical scheme upon which this paper is based is the 1D Crank–Nicolson linear finite element scheme. In Part I of this series it was shown that for a certain range of incident wavelengths impinging on the interface of an expansion in nodal spacing, an evanescent (or spatially damped) wave results in the downstream region. Here in Part III an analysis is carried out to predict the wavelength and the spatial rate of damping for this wave. The results of the analysis are verified quantitatively with seven ‘hot-start’ numerical experiments and qualitatively with seven ‘cold-start’ experiments. Weare has shown that evanescent waves occur whenever the frequency of a disturbance at a boundary exceeds the maximum frequency given by the dispersion relation. In these circumstances the ‘extended dispersion’ relation can be used to determine the rate of spatial decay. In the context of a domain consisting of two regions with different nodal spacings, the use of the group velocity concept shows that evanescent waves have no energy flux associated with them when energy is conserved.     

Economic evaluation of the familial cancer programme in Western Australia: predictive genetic testing for familial adenomatous polyposis and hereditary non-polyposis colorectal carcinoma

AIM: To evaluate costs and outcomes of genetic testing for familial colorectal cancer through services provided by Genetic Services of Western Australia (GSWA). METHODS: Costs and outcomes of predictive DNA-based testing for inherited colorectal cancers (CRC) were assessed, specifically for familial adenomatous polyposis (FAP) and hereditary non-polyposis CRC (HNPCC) using a decision-analysis model. Costs were assigned according to standards of care in Western Australia (WA). Cancer risks and the efficacy of surveillance on long-term outcomes were derived from the published literature. RESULTS: The cost-effectiveness of genetic testing was compared in first-degree relatives of known mutation carriers who have a 50% risk of carrying the mutated gene (intervention group) to individuals with the same risk but who do not undergo a genetic test (control subjects). Compared with control subjects undergoing the same high-level surveillance and surgery, the FAP and HNPCC intervention groups provided total savings of 13,390 US dollars and 14,783-15,460 per person (males-females), respectively. HPNCC mutation carriers also gained 1 CRC-free year. Compared to control subjects having only population surveillance, individuals in the FAP intervention group delayed the onset of CRC by 40 years for a net cost of 9,042 US dollars. Individuals in the HNPCC intervention group delayed the onset of CRC by 8 years at a net cost of 12,141 US dollars for males and 12,596 US dollars for females. CONCLUSIONS: Genetic testing for familial CRC in WA allows targeted surveillance for mutation carriers, which ensures the efficient use of resources and reduces cancer-related morbidity, if clinical recommendations for intervention are adopted.     

Secondary shock features for large surface explosions: results from the Sayarim Military Range,Israel and other experiments

A series of surface explosions was designed and conducted by the Geophysical Institute of Israel at the Sayarim Military Range in the Negev desert, including two large-scale explosions: approx. 82 tons of high explosives in 2009, and approx. 100 tons of low-grade ANFO explosives in 2011. The main goal of the explosions was to provide large controlled sources for calibration of global infrasound stations designated for monitoring nuclear tests; however, the geophysical experiment also provided valuable observations for shock wave research. High-pressure gauges were deployed at distances between 100 and 600 m to record air blast properties and to provide reliable estimation of the true charge yield compared to the design value. Secondary shock phenomena were clearly observed at all near-source gauges as characteristic shock wave shapes. Secondary shocks were also observed at numerous seismic and acoustic sensors deployed in the range 0.3–20 km as acoustic phases. Empirical relationships for standard air blast parameters (peak pressure and impulse) and for a new parameter called secondary shock time delay, as a function of distance, were established and analyzed. The standard parameters, scaled by the cubic root of the estimated TNT yield, were found to be consistent for all analyzed explosions. However, the scaled secondary shock delays were clearly separated for the 2009 and 2011 explosions, thus demonstrating dependence on the explosive type. Additionally, air blast records from other experiments were used to extend the charge and distance ranges for the secondary shock observation, and showed consistency with the Sayarim data. Analysis and interpretation of observed features of the secondary shock phenomenon are proposed and a new empirical relationship of scaled secondary shock delay versus scaled distance is established. The results suggest that the secondary shock delay can be used as a new additional waveform feature for simple and cost-effective explosive yield estimation.     

Apparent Permeability and Gas Flow Behavior in Carboniferous Shale from the Qaidam Basin,China: An Experimental Study

Shale can act as an unconventional gas reservoir with low permeability and complex seepage characteristics. Study of the apparent permeability and percolation behavior of shale gas is important in understanding the permeability of shale reservoirs, to evaluate formation damage, to develop gas reservoirs, and to design wells. This study simulated methane percolation at 298.15 K under inlet pressures ranging from 0.2 to 4 MPa and a constant outlet pressure of 0.1 MPa to investigate shale gas percolation behavior and apparent permeability. Five representative shale cores from the Carboniferous Hurleg and Huitoutala formations in the eastern Qaidam Basin, China, were analyzed. Each experiment measured the volume flow rate of methane and the inlet pressure. Pseudopressure approach was used to analyze high-velocity flow in shale samples, and apparent permeability at different pressures was calculated using the traditional method. A nonlinear apparent permeability model that considers diffusion and slippage is established from theory and experimental data fitting, and the shale gas flow characteristics affected by slippage and diffusion are analyzed. The results indicate that the pseudopressure formulation that considers the effect of gas properties on high-velocity flow produces a more accurate linear representation of the experimental data. The apparent gas permeability of shale consists of contributions from Darcy permeability, slippage, and diffusion. The apparent permeability and gas flow behavior in the studied shales strongly depended on pressure. The diffusion contribution increased greatly as pressure decreased from 2 to 0.2 MPa, and the smaller the shale permeability, the greater the relative contribution of diffusion flow. At pressures greater than 2 MPa, slip flow contributes \(\sim \)20% of the total flux, Darcy flow contributes up to 70%, and diffusion makes only a minor contribution. This study provides useful information for future studies of the mechanism of shale gas percolation and the exploration and development of Qaidam Basin shale gas specifically.