Seven novel KIT mutations in horses with white coat colour phenotypes

White coat colour in horses is inherited as a monogenic autosomal dominant trait showing a variable expression of coat depigmentation. Mutations in the KIT gene have previously been shown to cause white coat colour phenotypes in pigs, mice and humans. We recently also demonstrated that four independent mutations in the equine KIT gene are responsible for the dominant white coat colour phenotype in various horse breeds. We have now analysed additional horse families segregating for white coat colour phenotypes and report seven new KIT mutations in independent Thoroughbred, Icelandic Horse, German Holstein, Quarter Horse and South German Draft Horse families. In four of the seven families, only one single white horse, presumably representing the founder for each of the four respective mutations, was available for genotyping. The newly reported mutations comprise two frameshift mutations (c.1126_1129delGAAC; c.2193delG), two missense mutations (c.856G>A; c.1789G>A) and three splice site mutations (c.338-1G>C; c.2222-1G>A; c.2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species.

Congenitally corrected transposition of the great arteries in an 80 year old woman

Congenitally corrected transposition of the great arteries (CCTGA) is a rare form of congenital heart disease characterised by atrioventricular as well as ventriculoarterial discordance. It is usually associated with a variety of severe intracardiac defects. Few patients with this abnormality survive past 50 years. An 80 year old woman was admitted to the hospital because of mild congestive heart failure. Cardiac examination revealed a 4/6 holosystolic and a 2/6 decrescendo diastolic murmur at the left sternal border. Radiography, echocardiography, and computed tomography confirmed newly diagnosed CCTGA without associated intracardiac defects.

B-type natriuretic peptide for diagnosis and treatment of congestive heart failure

BACKGROUND Prognostic classification of congestive heart failure (CHF) is difficult and only possible with the help of additional diagnostic tools. B-type natriuretic peptide (BNP) has been used as a diagnostic and prognostic marker for patients (pts) with CHF. In this study, the clinical value of BNP for stratification and treatment of pts with CHF was evaluated. PATIENTS AND METHODS 33 out-pts with CHF (age 57 +/- 12 years) were included. Left-ventricular (LV) ejection fraction (EF) was 27 +/- 8% (mean +/- SD) and NYHA-class 2.4 +/- 0.7. Following parameters were measured: BNP and sodium from blood samples, exercise performance from 6-minute walking test (6MWT, meters) (n = 18), LV end-diastolic diameter (LVEDD) and LV mass (LVM) from 2D-echocardiography (n = 33), as well as LV end-diastolic pressure (LVEDP, n = 23) and systemic vascular resistance (SVR, n = 20) from heart-catheterisation. Ten pts were hospitalised in the preceding 6 months because of worsening CHF or for optimisation of medical therapy. BNP was measured at the beginning and end of the hospital-stay. Follow-up was for 1 year. RESULTS Pts with a high NYHA-class had a higher BNP (pg/ml) than those with a low NYHA- class: NYHA I 51 +/- 20, II 281 +/- 223, III 562+/-346 and IV 1061 +/- 126 pg/ml (p = 0.002). BNP correlated with LVEDP (r = 0.50, p <0.02), SVR (r =0.49, p <0.03) and inversely with 6MWT (r =-0.60, p <0.009), LVEF (r = -0.49, p <0.004) and sodium (r = -0.36, p = 0.04). In the hospitalised pts, mean BNP (pg/ml) was 881 +/- 695 at admission,and 532 +/- 435 at discharge (n.s.). Decrease in BNPduring hospitalisation paralleled weight-loss and was significantly greater in patients with >1000 pg/ml BNP at admission (n = 5) as compared to the 5 patients with BNP <1000 (p <0.03). Patients with an adverse event during 1-year follow-up had significantly higher BNP both at steady-state (603 +/-359 pg/ml) and at time of decompensation than patients with a favourable outcome (227 +/- 218 pg/ml,p <0.001). CONCLUSIONS BNP correlates well with the clinical severity of CHF (NYHA-class) and is directly related to filling pressure (LVEDP), LV function(LVEF) and exercise performance (6 MWT). Furthermore, BNP has prognostic impact with regard to adverse clinical events.

The Effect of Open-Irrigated Radiofrequency Catheter Ablation of Atrial Fibrillation on Left Atrial Pressure and B-Type Natriuretic Peptide

Background Open-irrigated radiofrequency catheter ablation (oiRFA) of atrial fibrillation (AF) imposes a volume load and risk of pulmonary edema. We sought to assess the effect of volume administration during ablation on left atrial (LA) pressure and B-type natriuretic peptide (BNP). Methods LA pressure was measured via transseptal sheath at the beginning and end of 44 LA ablation procedures in 42 patients. BNP plasma levels were measured before and after 10 procedures. Results A median of 3,255 (interquartile range [IQR], 2,014)-mL saline was administered during the procedure. During LA ablation, the median fluid balance was +1,438 (IQR, 1,109) mL and LA pressure increased by median 3.7 (IQR, 5.9) mm Hg (P < 0.001). LA pressure did not change in the 19 procedures with furosemide administration (median ΔP = −0.3 [IQR, 7.1] mm Hg, P = 0.334). The correlation of LA pressure and fluid balance was weak (rs = 0.383, P = 0.021). BNP decreased in all four procedures starting in AF or atrial tachycardia and then converting to sinus rhythm (P = 0.068), and increased in all six procedures starting and finishing in sinus rhythm (P = 0.028). After ablation, symptomatic volume overload responding to diuresis occurred in three patients. Conclusions A substantial intravascular volume load during oiRFA can be absorbed with little change in LA pressure, such that LA pressure is not a reliable indicator of the fluid balance. Subsequent redistribution of the volume load imposes a risk after the procedure. Conversion to sinus rhythm may improve ability to acutely accommodate the volume load.

Thermal acclimation to 4 or 10 degrees C imparts minimal benefit on swimming performance in Atlantic cod (Gadus morhua L.).

Thermal acclimation is frequently cited as a means by which ectothermic animals improve their Darwinian fitness, i.e. the beneficial acclimation hypothesis. As the critical swimming speed (U (crit)) test is often used as a proxy measure of fitness, we acclimated Atlantic cod (Gadus morhua) to 4 and 10 degrees C and then assessed their U (crit) swimming performance at their respective acclimation temperatures and during acute temperature reversal. Because phenotypic differences exist between different populations of cod, we undertook these experiments in two different populations, North Sea cod and North East Arctic cod. Acclimation to 4 or 10 degrees C had a minimal effect on swimming performance or U (crit), however test temperature did, with all groups having a 10-17% higher U (crit) at 10 degrees C. The swimming efficiency was significantly lower in all groups at 4 degrees C arguably due to the compression of the muscle fibre recruitment order. This also led to a reduction in the duration of "kick and glide" swimming at 4 degrees C. No significant differences were seen between the two populations in any of the measured parameters, due possibly to the extended acclimation period. Our data indicate that acclimation imparts little benefit on U (crit) swimming test in Atlantic cod. Further efforts need to identify the functional consequences of the long-term thermal acclimation process.

A randomized clinical trial of Behavioral Activation (BA) therapy for improving psychological and physical health in dementia caregivers: results of the Pleasant Events Program (PEP).

Dementia caregiving is associated with elevations in depressive symptoms and increased risk for cardiovascular diseases (CVD). This study evaluated the efficacy of the Pleasant Events Program (PEP), a 6-week Behavioral Activation intervention designed to reduce CVD risk and depressive symptoms in caregivers. One hundred dementia family caregivers were randomized to either the 6-week PEP intervention (N = 49) or a time-equivalent Information-Support (IS) control condition (N = 51). Assessments were completed pre- and post-intervention and at 1-year follow-up. Biological assessments included CVD risk markers Interleukin-6 (IL-6) and D-dimer. Psychosocial outcomes included depressive symptoms, positive affect, and negative affect. Participants receiving the PEP intervention had significantly greater reductions in IL-6 (p = .040), depressive symptoms (p = .039), and negative affect (p = .021) from pre- to post-treatment. For IL-6, clinically significant improvement was observed in 20.0% of PEP participants and 6.5% of IS participants. For depressive symptoms, clinically significant improvement was found for 32.7% of PEP vs 11.8% of IS participants. Group differences in change from baseline to 1-year follow-up were non-significant for all outcomes. The PEP program decreased depression and improved a measure of physiological health in older dementia caregivers. Future research should examine the efficacy of PEP for improving other CVD biomarkers and seek to sustain the intervention's effects.

Forget about theory - practice is all? - Student teachers' learning in practicum

In 1999, all student teachers at secondary I level at the University of Bern who had to undertake an internship were asked to participate in a study on learning processes during practicum: 150 students and their mentors in three types of practicum participated—introductory practicum (after the first half‐year of studies), intermediate practicum (after two years of studies) and final practicum (after three years of studies). At the end of the practicum, student teachers and mentors completed questionnaires on preparing, teaching and post‐processing lessons. All student teachers, additionally, rated their professional skills and aspects of personality (attitudes towards pupils, self‐assuredness and well‐being) before and after the practicum. Forty‐six student teachers wrote daily semi‐structured diaries about essential learning situations during their practicum. Results indicate that in each practicum students improved significantly in preparing, conducting and post‐processing lessons. The mentors rated these changes as being greater than did the student teachers. From the perspective of the student teachers their general teaching skills also improved, and their attitudes toward pupils became more open. Furthermore, during practicum their self‐esteem and subjective well‐being increased. Diary data confirmed that there are no differences between different levels of practicum in terms of learning outcomes, but give some first insight into different ways of learning during internship.

Men Between: The Role of Zambian Broadcasters in Decolonisation

This article traces the history of a group of Zambian broadcasters who established the first radio station in the country and made their mark on broadcasting for years to come. It describes their contribution to modern Zambian culture and to nationalist mobilisation. African broadcasters developed formats, ways of presenting and choices of music that appealed to Zambian listeners and established new, authentically local styles. While radio quickly established itself as an integral part of everyday life and culture in the colony, its effect was highly ambivalent. Broadcasters at the same time undermined and enforced the colonial project of using the medium as a transmitter of modernisation ideology. The article explores Thomas Turino’s characterisation of this team as ‘cosmopolitans’ and shows how they were influenced by BBC ideas of journalism and modernisation ideology. To do so, it analyses the relationships African broadcasters had with Europeans in senior positions and with colonial and postcolonial governments. This shared value system brought these Zambian broadcasters into conflict with the post-independence government and its plans to bureaucratise radio, despite their nationalist commitment and strong support for the United National Independence Party (UNIP) before independence.

Third degree atrioventricular block and accelerated idioventricular rhythm associated with a heart base chemodectoma in a syncopal Rottweiler.

A 7-year-old male intact Rottweiler was presented with a 1-week history of lethargy, anorexia, vomiting and multiple syncopal events. The results of the clinical examination and electrocardiography were consistent with a third degree atrioventricular block and an intermittent accelerated idioventricular rhythm. Haematology, serum biochemistry, serology for Borrelia burgdorferi, blood culture, total T4, thoracic radiography and echocardiography did not reveal the cause of the arrhythmia. Response to medical treatment with isoproterenol was poor. Pacemaker placement was declined by the owners and the dog was euthanized at their request. Histopathological examination of the heart revealed a chemodectoma at the base of the heart. There was no neoplastic infiltration of the conduction tissue. Potential mechanisms explaining the association of the arrhythmias and the tumour, such as vagal stimulation and neuroendocrine factors are discussed.

Evaluation of coughing and nasal discharge as early indicators for an increased risk to develop equine recurrent airway obstruction (RAO).

BACKGROUND It is often assumed that horses with mild respiratory clinical signs, such as mucous nasal discharge and occasional coughing, have an increased risk of developing recurrent airway obstruction (RAO). HYPOTHESIS Compared to horses without any clinical signs of respiratory disease, those with occasional coughing, mucous nasal discharge, or both have an increased risk of developing signs of RAO (frequent coughing, increased breathing effort, exercise intolerance, or a combination of these) as characterized by the Horse Owner Assessed Respiratory Signs Index (HOARSI 1-4). ANIMALS Two half-sibling families descending from 2 RAO-affected stallions (n = 65 and n = 47) and an independent replication population of unrelated horses (n = 88). METHODS In a retrospective cohort study, standardized information on occurrence and frequency of coughing, mucous nasal discharge, poor performance, and abnormal breathing effort-and these factors combined in the HOARSI-as well as management factors were collected at intervals of 1.3-5 years. RESULTS Compared to horses without clinical signs of respiratory disease (half-siblings 7%; unrelated horses 3%), those with mild respiratory signs developed clinical signs of RAO more frequently: half-siblings with mucous nasal discharge 35% (P < .001, OR: 7.0, sensitivity: 62%, specificity: 81%), with mucous nasal discharge and occasional coughing 43% (P < .001, OR: 9.9, sensitivity: 55%, specificity: 89%); unrelated horses with occasional coughing: 25% (P = .006, OR = 9.7, sensitivity: 75%, specificity: 76%). CONCLUSIONS AND CLINICAL IMPORTANCE Occasional coughing and mucous nasal discharge might represent an increased risk of developing RAO.