Phylogenetic analysis of museum specimens of houting Coregonus oxyrinchus shows the need for a revision of its extinct status.

According to the IUCN Red List the anadromous houting Coregonus oxyrinchus is categorized as 'extinct'. However, this extinct status might be incorrect because taxonomic difference between C. oxyrinchus and the closely related C. lavaretus is based on a disputable morphological comparison. Also, phylogenetic studies on mtDNA only focused on recent obtained coregonids. We are the first to perform a mtDNA analysis on both historic and recent specimens, including the syntype specimen which was used for species description by Linnaeus originally. Two primer pairs for mitochondrial CytB and ND3 were used to extract sequences for phylogenetic analysis. Sequences from 14 out of 21 C. oxyrinchus museum specimens were successfully obtained and compared with sequences from recent obtained C. lavaretus. The sequences were combined with GenBank data from a previous phylogenetic study on houting to create a phylogenetic tree and two minimum spanning haplotype networks. Results show that C. oxyrinchus and C. lavaretus form a clade with limited genetic variation. Low bootstrap values also show weak support for geographical patterns in distribution of mitochondrial haplotypes. Statistical analysis of the haplotype networks also shows that historic and recent specimens are similar species. Our results suggest that C. oxyrinchus is a junior synonym of C. lavaretus. A definitive taxonomic revision could not be made because only CytB sequencing was successful for the syntype specimen. We discuss taxonomic consequences and the species-specific focus in nature conservation. We propose a shift in nature conservation to a more functional approach based on traits rather than species.

Nosocomial outbreak of staphyloccocal scalded skin syndrome in neonates in England, December 2012 to March 2013.

Staphylococcal scalded skin syndrome (SSSS) is a blistering skin condition caused by exfoliative toxin-producing strains of Staphylococcus aureus. Outbreaks of SSSS in maternity settings are rarely reported. We describe an outbreak of SSSS that occurred among neonates born at a maternity unit in England during December 2012 to March 2013. Detailed epidemiological and microbiological investigations were undertaken. Eight neonates were found to be infected with the outbreak strain of S. aureus, of spa type t346, representing a single pulsotype. All eight isolates contained genes encoding exfoliative toxin A (eta) and six of them contained genes encoding toxin B (etb). Nasal swabs taken during targeted staff screening yielded a staphylococcal carriage rate of 21% (17/80), but none contained the outbreak strain. Mass screening involving multi-site swabbing and pooled, enrichment culture identified a healthcare worker (HCW) with the outbreak strain. This HCW was known to have a chronic skin condition and their initial nasal screen was negative. The outbreak ended when they were excluded from work. This outbreak highlights the need for implementing robust swabbing and culture methodswhen conventional techniques are unsuccessful in identifying staff carrier(s). This study adds to the growing body of evidence on the role of HCWs in nosocomial transmission of S. aureus.

The genus Atheris (Serpentes: Viperidae) in East Africa: phylogeny and the role of rifting and climate in shaping the current pattern of species diversity.

Past climatic and tectonic events are believed to have strongly influenced species diversity in the Eastern Afromontane Biodiversity Hotspot. We investigated the phylogenetic relationships and historical biogeography of the East African genus Atheris (Serpentes: Viperidae), and explored temporal and spatial relationships between Atheris species across Africa, and the impact of palaeoclimatic fluctuations and tectonic movements on cladogenesis of the genus. Using mitochondrial sequence data, the phylogeny of East African species of Atheris shows congruent temporal patterns that link diversification to major tectonic and aridification events within East Africa over the last 15million years (my). Our results are consistent with a scenario of a delayed direct west-east colonisation of the Eastern Arc Mountains of Atheris by the formation of the western rift. Based on the phylogenetic patterns, this terrestrial, forest-associated genus has dispersed into East Africa across a divided route, on both west-southeasterly and west-northeasterly directions (a C-shaped route). Cladogenesis in the Eastern Arc Mountains and Southern Highlands of Tanzania corresponds to late Miocene and Plio-Pleistocene climatic shifts. Taxonomically, our data confirmed the monophyly of Atheris as currently defined, and reveal four major East African clades, three of which occur in discrete mountain ranges. Possible cryptic taxa are identified in the Atheris rungweensis and A. ceratophora clades.

Batrachochytrium dendrobatidis in amphibians of Cameroon, including first records for caecilians.

Amphibian chytrid fungus Batrachochytrium dendrobatidis (Bd) has been hypothesised to be an indigenous parasite of African amphibians. In Cameroon, however, previous surveys in one region (in the northwest) failed to detect this pathogen, despite the earliest African Bd having been recorded from a frog in eastern Cameroon, plus one recent record in the far southeast. To reconcile these contrasting results, we present survey data from 12 localities across 6 regions of Cameroon from anurans (n = 1052) and caecilians (n = 85) of ca. 108 species. Bd was detected in 124 amphibian hosts at 7 localities, including Mt. Oku, Mt. Cameroon, Mt. Manengouba and lowland localities in the centre and west of the country. None of the hosts were observed dead or dying. Infected amphibian hosts were not detected in other localities in the south and eastern rainforest belt. Infection occurred in both anurans and caecilians, making this the first reported case of infection in the latter order (Gymnophiona) of amphibians. There was no significant difference between prevalence and infection intensity in frogs and caecilians. We highlight the importance of taking into account the inhibition of diagnostic qPCR in studies on Bd, based on all Bd-positive hosts being undetected when screened without bovine serum albumin in the qPCR mix. The status of Bd as an indigenous, cosmopolitan amphibian parasite in Africa, including Cameroon, is supported by this work. Isolating and sequencing strains of Bd from Cameroon should now be a priority. Longitudinal host population monitoring will be required to determine the effects, if any, of the infection on amphibians in Cameroon.

Family issues in a psychoeducation group for women with a BRCA mutation.

Few services exist for women who test positive for BRCA1 and BRCA2 mutations despite the distress that they and their families may experience. We present one model of a time-limited family-oriented psychoeducation group to provide information and support for nine women who received positive test results. We report on five family-oriented themes that arose from the discussions: distress about possible transmission to children; family conflict about testing; concerns about disclosure; different coping styles and decision making; and underlying family conflict and unresolved grief. We also include recommendations from these women to enhance the services available to families by expanding assessment, and providing written literature and contact information. In addition, referrals for a psychoeducation group, community support group, or psychotherapy may be useful for individuals, couples and families who are considering genetic testing for BRCA mutations.

Points to consider in designing a clinical trial to ascertain the utility of a genetic screening test.

In designing a clinical trial to ascertain the utility of a genetic screening test, the follow recommendations should be considered: (1) imbed the genetic test in a genetic service; (2) choose a specific outcome to monitor; (3) compare two strategies for achieving the desired outcome; (4) assemble a multidisciplinary team; (5) attempt to reach all potential subjects in a defined region; (6) derive an outcome for each subject; (7) assess each expected benefit and burden.

Prenatal screening for cystic fibrosis carriers: an economic evaluation.

The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical question is whether the cost of such screening is justified. Decision analysis was performed that used information about choices that pregnant women were observed to make at each stage in the Rochester prenatal carrier-screening trial. The cost of screening per CF birth voluntarily averted was estimated to be $1,320,000-$1,400,000. However, the lifetime medical cost of the care of a CF child in today's dollars was estimated to be slightly>$1,000,000. Therefore, despite both the high cost of carrier testing and the relative infrequency of CF conceptions in the general population, the averted medical-care cost resulting from choices freely made are estimated to offset approximately 74%-78% of the costs of a screening program. At present, if it is assumed that a pregnancy terminated because of CF is replaced, the marginal cost for prenatal CF carrier screening is estimated to be $8,290 per quality-adjusted life-year. This value compares favorably with that of many accepted medical services. The cost of prenatal CF carrier screening could fall to equal the averted costs of CF patient care if the cost of carrier testing were to fall to $100.

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

PURPOSE: Previous studies of mutations in BRCA1 or BRCA2 have used detection methods that may underestimate the actual frequency of mutations and have analyzed women using heterogeneous criteria for risk of hereditary cancer. PATIENTS AND METHODS: A total of 238 women with breast cancer before age 50 or ovarian cancer at any age and at least one first- or second-degree relative with either diagnosis underwent sequence analysis of BRCA1 followed by analysis of BRCA2 (except for 27 women who declined analysis of BRCA2 after a deleterious mutation was discovered in BRCA1). Results were correlated with personal and family history of malignancy. RESULTS: Deleterious mutations were identified in 94 (39%) women, including 59 of 117 (50%) from families with ovarian cancer and 35 of 121 (29%) from families without ovarian cancer. Mutations were identified in 14 of 70 (20%) women with just one other relative who developed breast cancer before age 50. In women with breast cancer, mutations in BRCA1 and BRCA2 were associated with a 10-fold increased risk of subsequent ovarian carcinoma (P = .005). CONCLUSION: Because mutations in BRCA1 and BRCA2 in women with breast cancer are associated with an increased risk of ovarian cancer, analysis of these genes should be considered for women diagnosed with breast cancer who have a high probability of carrying a mutation according to the statistical model developed with these data.

Genetic testing for breast-ovarian cancer susceptibility: a regional trial.

To evaluate receptivity to testing for a genetic susceptibility to breast-ovarian cancer, information is needed on the response when the offer is open to all qualifying women in a given region. To qualify in this trial, a woman who had not had breast or ovarian cancer had to have at least two first-degree relatives or one first- and one second-degree relative with breast and/or ovarian cancer, whereas a woman who had had breast or ovarian cancer had to have at least one first-degree relative with breast or ovarian cancer and a first- or second-degree relative without cancer willing to be tested. Of 140 women qualifying and interested enough to return questionnaires requesting baseline information, 111 were referred by their physician and 29 were identified from a regional tumor registry. Of these 140, 112 came for pretest education and 98 of these chose to be tested. Thus, the acceptance rate was 70% for all those returning baseline questionnaires, but 88% for those interested enough to come for pretest education. The most common reasons for accepting testing were to take extra precautions if a mutation were found (42.9%) and to determine if offspring were at risk (24.5%). The most common reasons for declining were anxiety and absence of specific interventions. Factors predicting who chose testing were years of education (p < 0.005) and family closeness (p < 0.02). Fourteen deleterious BRCA1 or BRCA2 mutations were found in 13 of the 87 families actually tested. If the criteria for testing had been three or more affected family members rather than two or more, the number of families tested would have been reduced by 46%, but the number of families found to have a deleterious mutation would have been reduced by only 9%.

Evaluating the benefits realized from a nurse management information system.

The information requirements of nurse managers have been uncreasing rapidly in recent years. The demand for access to relevant and accurate information has led to the development of computerized information systems for use a ward level. However, once implemented, few information systems have been evaluated to identify the benefits that will be realized. This paper presents the results of a study carried our in Oxford to evaluate one nurse management information system using a multi-method approach to identify ways in which returns may be manifested. It suggests that evaluation should be an active process planned at the same time is defining information requirements.

Cystic fibrosis carrier population screening: a review.

Population screening for cystic fibrosis (CF) carriers, now possible because of the cloning of the CFTR gene, merits evaluation because CF is common, serious, and without satisfactory treatment, and because prenatal diagnosis is available. Clinical trials of CF population carrier screening are reviewed. These trials have involved pregnant women, adults of both sexes of reproductive age, or adolescents. Schools, the usual setting for screening programs for adolescents, provide an excellent opportunity for a formal educational component and for comprehensive coverage of the population, but compared to a health-care setting, may entail subtle coercion and may compromise confidentiality. In the case of adults, many say they prefer screening before conception but do not see a physician for evaluation before conception and providers find screening more readily accomplished in the setting of a prenatal visit. Two large U.S. studies of prenatal screening with quite different subject populations and health-care settings encountered few of the adverse outcomes originally predicted for CF carrier population screening.

Carrier screening for cystic fibrosis: test acceptance and one year follow-up.

We identified 124 carriers among 4,879 patients of prenatal care providers in the Rochester region. Six factors were identified that together permitted a correct classification regarding test acceptance for 77.5% of all subjects. For those pregnant, the most influential of these factors was a more accepting attitude toward abortion. As an indication for abortion, cystic fibrosis (CF) ranked between mild and moderate mental retardation. Of the 124 carrier women identified, we obtained 1-year follow-up information on 100. Mean score for CF knowledge at 1 year (77.4 +/- 13.2%), although significantly lower than immediately after counseling (84 +/- 12.4%), was still significantly higher than after detection but before counseling (51.1% +/- 20.7%). Anxiety about having a child with CF significantly declined from 25.8 +/- 8.0 SD immediately after counseling to 18.9 +/- 7.8 at 1 year (Spielberger State Anxiety Scale). Although 15 carriers regretted having been tested, 83% believed that they benefited from testing, 83% would make the same decision to be tested over again, and 79% would recommend testing to a friend. We conclude that, for most women, CF carrier screening accomplished its purpose: most carriers detected came for counseling, had their partners tested, and, if their partners were also carriers, had prenatal diagnosis. The major undesirable outcomes were that many women testing negative did not understand that a negative result did not exclude being a carrier and that three women found to be carriers did not have their partners tested because of anxiety or the unacceptability of pregnancy termination and therefore may not have carefully considered their decision to be tested. Both of these undesirable outcomes could have been avoided by greater attention to pretest patient education by the primary care provider.

Attitudes of obstetrician-gynecologists toward DNA testing for a genetic susceptibility to breast cancer.

OBJECTIVE: To assess knowledge and attitudes of area obstetrician-gynecologists toward DNA testing for genetic susceptibility to breast cancer. METHODS: At a staff meeting of each of the Rochester area's hospitals that had an obstetric service, we assessed knowledge of inherited predisposition to breast cancer, presented the current status of testing for genetic susceptibility, and assessed attitudes toward such testing. RESULTS: The majority of the physicians surveyed believed that current BRCA1 testing can detect a genetic predisposition to breast cancer accurately enough to be clinically useful (81%) and that a young woman with a family history of breast cancer not currently having regular mammography is likely to benefit from DNA testing because a positive result may motivate her to start mammography earlier (88%). However, most respondents thought that women who test positive are likely to be excessively anxious (87%) and may be discriminated against for insurance purposes (75%). In response to an invitation to participate in a clinical trial of free BRCA1 screening, 74 (70%) desired to participate. CONCLUSION: Obstetrician-gynecologists expect women detected to have a BRCA1 mutation to be motivated to conduct surveillance, but also to experience anxiety and possible discrimination.

Cystic fibrosis carrier population screening in the primary care setting.

To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of 124 prenatal care providers, only 37 elected to participate, but many of these offered screening only to pregnant women. The acceptance rate among pregnant women was approximately 57%. The most common reasons for accepting screening were to obtain reassurance (50.7%) and to avoid having a child with CF (27.8 %). The most common reasons for declining screening were not intending to terminate a pregnancy for CF (32.4%) and believing that the chance of having a CF child was very low (32.2%). Compared with decliners, acceptors were more likely to have no children, regarded having a child with CF as more serious, believed themselves more susceptible to having such a child, knew more about CF, would be more likely to terminate a pregnancy if the fetus were shown to have CF, and more strongly supported offering CF screening to women of reproductive age. Of 4,879 women on whom results were obtained, 124 were found to be carriers. Of these 124 carriers, the partners of 106 were tested. Of the five at-risk couples, four requested prenatal diagnosis and one requested neonatal diagnosis. No woman found to be a carrier whose partner tested negative requested prenatal diagnosis. Except for the imperfect knowledge of those testing negative, none of the adverse outcomes predicted for CF carrier testing in the general population were observed in this study.

Women's receptivity to testing for a genetic susceptibility to breast cancer.

Four hundred eighty-four patients undergoing mammography and 498 patients visiting their obstetrician-gynecologist were asked whether they would take a breast cancer 1 (BRCA1) test to detect a genetic susceptibility to breast cancer. More than 90% in both groups said they would take the test. Women were more likely to accept if they were regularly having breast examinations by a physician, believed that mammography effectively detects early breast cancer, and believed that early breast cancer is curable. If shown to have inherited a susceptibility, many reported that they would be very anxious, would want the test repeated, would examine their breasts more often than monthly, and would want mammography more often than yearly. Many also reported that they would recommend testing to relatives.

Prenatal genetic counseling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors.

Health personnel trained in medical genetics are insufficient to meet the demand for genetic services. Methods must be found to enable primary care providers to offer commonly needed genetic services themselves. In our recently reported community-wide prenatal screening program for hemoglobinopathies, 36% of women detected to have a hemoglobinopathy did not come to a tertiary center for counseling and thus may have not benefited from testing. To determine whether the efficiency of the program could be increased if counseling were provided by the prenatal care provider (obstetrician or family practitioner), we developed a pilot training program on the basis of our experience in offering such services and enlisted 68% of regional prenatal care providers to participate. The proportion of patients detected to have a hemoglobinopathy who received counseling was similar in the primary and tertiary provider groups: 59% versus 50%, respectively, for sickle trait, and 69% versus 66%, respectively, for beta-thalassemia trait. Knowledge after counseling was also similar for the primary and tertiary provider groups: 64% versus 66% (mean % correct), respectively, for sickle trait, and 79% versus 78%, respectively, for beta-thalassemia trait. However, the two provider groups significantly differed with regard to whether or not the patient had her partner tested. For sickle trait, it was 25% for the primary providers but 49% for the tertiary providers (P < .001). For beta-thalassemia trait, it was 47% for the primary providers but 78% for the tertiary providers (P < .001).(ABSTRACT TRUNCATED AT 250 WORDS)

A consultancy service that pays dividends. Setting up a pressure sore resource group.

1. The recognition that there may be a pressure sore problem in your hospital is important. 2. When starting a project, it is important to establish a baseline from which progress can be measured. 3. Better results will be achieved if the pressure sore problem is tackled by the multidisciplinary team. 4. It is important to realise that quality care costs money--the hospital may have to spend money in the first instance to provide a cost-effective service in the long run. 5. It is vital that medical and nursing staff are made aware of the cost-effectiveness of the wound care products they choose.

Cystic fibrosis carrier screening: knowledge and attitudes of prenatal care providers.

We are conducting a trial of population carrier screening for cystic fibrosis (CF), targeting pregnant and nonpregnant patients of prenatal care providers. We first enlisted providers by presenting a description of the trial to the obstetrical staffs of the five Rochester, New York, hospitals having delivery services. Of the 124 prenatal care providers (111 obstetricians and 13 family practitioners) with delivery privileges at the five hospitals, only 81 (65%) attended one of our presentations. Providers who attended lacked knowledge about CF screening and counseling and expressed divergent attitudes about prenatal diagnosis for carrier women having test-negative partners. Of the 79 providers completing an attitude questionnaire, 68 (86%) were willing to offer carrier screening to all their patients if educational materials, testing, and counseling were all provided without charge. After visiting participating physicians' offices to orient their staff, we reached two additional conclusions. First, in considering whether to offer CF carrier screening to their patients, prenatal care providers are less concerned about imperfect test sensitivity, false reassurance of those testing negative, or discrimination against those testing positive than about time required to answer patients' questions if they screen and about legal liability if they do not. Second, some providers are more resistant to offering screening to nonpregnant patients than to pregnant patients, not because they believe that the timing is less appropriate, but because nonpregnant patients do not routinely receive an advance mailing, have phlebotomy, or return for follow-up. Our experience raises concerns about the willingness and capability of prenatal care providers to translate advances in molecular medicine into prenatal screening services.

Prenatal hemoglobinopathy screening. IV. Follow-up of women at risk for a child with a clinically significant hemoglobinopathy.

To determine the benefits and burdens of prenatal hemoglobinopathy carrier identification and genetic counseling and its impact on subsequent reproductive behavior, we recontacted women whom we had previously identified as at risk for having a child with a clinically significant hemoglobinopathy, regardless of whether they had accepted the offer of prenatal diagnosis. Of the 46 such women, 31 were available for interview. These 31 women had received offers of prenatal diagnosis in 47 pregnancies. Seventeen had been accepted, and 30 had been declined. The proportion of patients accepting the offer of prenatal diagnosis was higher for the index pregnancy (50%) than for subsequent pregnancies (22%). The mean interval between the initial counseling of the patient and the follow-up interview was 43 mo (standard error +/- 2.7 mo). Ninety-four percent of those interviewed recalled having received information from the screening program; 74% recalled the name of their condition; 90% knew that trait did not affect their health; 84% recalled the name of the condition for which their fetus had been at risk; and 77% could state at least one symptom of the disease. Of the 29 women asked whether they intended to use prenatal diagnosis in future pregnancies, 13 said yes and 16 said no. Of the 26 patients asked about satisfaction with their previous decision about prenatal diagnosis, all were satisfied with their decision. Eighteen said they would make the same decision in their next pregnancy, but seven patients said they would not, and one was undecided.(ABSTRACT TRUNCATED AT 250 WORDS)