Midwives’ Approach to Genetic Diseases and Genetic Counseling in Denizli, Turkey

The purpose of this study was to evaluate Denizli midwives’ self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and genetic counseling (response rate = 70.1%). The highest response rate of midwives describing themselves as “knowledgeable” about basic genetic information was for mitosis and meiosis with 4.8%, about genetic disorders was for phenylketonuria with 61.1%, and about genetic counseling was for recommending ultrasonography during pregnancy with 98.1%. The source for basic genetics information for 56.4% of participants was in their school level classes. None of the midwives felt that they had sufficient knowledge about genetic counseling or screening and 76.4% would like to attend an educational course. Even though the midwives have recognized their knowledge deficit they occasionally give genetic counseling. As a result of this study a genetics course is planned for midwives so they can actively participate in the prevention and early diagnosis of genetic diseases.     

Development of the Lurian Approach: A Cultural Neurolinguistic Perspective

This article presents a discussion of the principle of extracortical organization of higher mental functions and its significance for the development of contemporary neuropsychology. The role of external factors (stimulus-mediator, symbol) in establishing functional connections between various brain systems is, in principle, universal. However, inasmuch as differing mediators and means, or significantly different details within them (direction of writing, orientation by maps or by the behavior of sea birds, etc.) may and in fact do develop in different cultures, neuropsychological analysis must take into account cross-cultural differences. Diagnostic tools must also be adapted to differing cultural contexts. The efficacy of this principle for the analysis of bilingual aphasia and of mental organization of speech, including the effect of acquisition of literacy in native language, is demonstrated. The importance of this principle for the development of new directions in applied neuropsychology is also discussed.     

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.     

The characteristics of LTP induced in hippocampal slices are dependent on slice-recovery conditions

In area CA1 of hippocampal slices which are allowed to recover from slicing "in interface" and where recordings are carried out in interface, a single 1-sec train of 100-Hz stimulation triggers a short-lasting long-term potentiation (S-LTP), which lasts 1-2 h, whereas multiple 1-sec trains induce a long-lasting LTP (L-LTP), which lasts several hours. Moreover, the threshold and the features of these LTP depend on the history of the neurons, a phenomenon known as metaplasticity. Here, where all recordings were performed in interface, we found that allowing the slices to recover "in submersion" had dramatic metaplastic effects. In these conditions, a single 1-sec train at 100 Hz induced an L-LTP which lasted at least 4 h and was dependent on protein synthesis. Interestingly, this type of metaplasticity was observed when the concentration of Mg(++) used was 1.0 mM but not when it was 1.3 mM. The LTP induced by four 1-sec trains at 100 Hz was similar whatever the incubation method. However, the signaling cascades recruited to achieve that pattern were different. In the interface-interface paradigm (recovery and recording both in interface) the four-train induced LTP recruited the PKA signaling pathway but not that of the p42/44MAPK. On the contrary, in the submersion-interface paradigm the four-train induced LTP recruited the p42/44MAPK signaling pathway but not that of the PKA. To our knowledge this is the first example of metaplasticity involving the recruitment of signaling cascades in LTP.     

Adherence to HAART: perspectives from clients in treatment support programs

The development of highly active antiretroviral therapy (HAART) has resulted in dramatic decreases in morbidity and mortality for HIV-infected individuals. Because the long-term efficacy of HAART is dependent on near perfect adherence, many providers offer services to support adherence, including education, regimen review, counseling, and reminder tools. Little is known regarding the utilization or efficacy of these services. In this paper, we report on data collected during 32 open-ended interviews conducted with individuals receiving services through the New York State Treatment Adherence Demonstration Project. Participants in the project reported deriving benefits from a broad range of project activities. Educational efforts helped clients to recognize HIV as a manageable, rather than terminal, illness. Information and tools focused on specific regimens provided clients with concrete knowledge and skills. Effective communication with medical providers and pharmacists was facilitated by adherence staff who proactively advocated for client needs. Program-based social support was particularly valuable for many participants, helping them to retain needed motivation and strength. Educational, practical, and supportive services were all considered valuable to clients participating in adherence support programs. A mix of services may best meet the range of needs found among persons taking HAART.     

Posttraining handling facilitates memory for auditory-cue fear conditioning in rats

A large number of studies have indicated that stress exposure or the administration of stress hormones and other neuroactive drugs immediately after a learning experience modulates the consolidation of long-term memory. However, there has been little investigation into how arousal induced by handling of the animals in order to administer these drugs affects memory. Therefore, the present study examined whether the posttraining injection or handling procedure per se affects memory of auditory-cue classical fear conditioning. Male Sprague-Dawley rats, which had been pre-handled on three days for 1 min each prior to conditioning, received three pairings of a single-frequency auditory stimulus and footshock, followed immediately by either a subcutaneous injection of a vehicle solution or brief handling without injection. A control group was placed back into their home cages without receiving any posttraining treatment. Retention was tested 24 h later in a novel chamber and suppression of ongoing motor behavior during a 10-s presentation of the auditory-cue served as the measure of conditioned fear. Animals that received posttraining injection or handling did not differ from each other but showed significantly less stimulus-induced movement compared to the non-handled control group. These findings thus indicate that the posttraining injection or handling procedure is sufficiently arousing or stressful to facilitate memory consolidation of auditory-cue classical fear conditioning.     

The regional genetic and newborn screening service collaboratives: the first two years

Newborn screening and genetic technologies are expanding and changing rapidly, increasing the demand for genetic specialty services. Because of the scarcity and geographic maldistribution of genetic specialty services, access to these services is a critical issue. This article discusses some of the efforts initiated by the Maternal and Child Health Bureau of the Health Resources and Services Administration, particularly the establishment of regional genetic and newborn screening collaboratives to improve access to these services and expertise.