Portuguese validation of the Cambridge pulmonary hypertension outcome review (CAMPHOR) questionnaire

BACKGROUND: Patients with pulmonary arterial hypertension (PAH) and other forms of precapillary pulmonary hypertension (PH) have impaired quality of life (QoL). The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) is a PH-specific patient-reported outcome measure that assesses symptoms, activity limitations and QoL. It was originally developed in UK-English. The main objective of this study was to create an adaptation of the CAMPHOR suitable for a Portuguese-speaking population. METHODS: A multi-step approach was followed: bilingual and lay panel translation; cognitive debriefing interviews; and psychometric testing in repeated postal surveys (2 weeks apart) including assessment of internal consistency, reproducibility and validity. The Nottingham Health Profile (NHP) questionnaire was used as a comparator instrument to test convergent validity. RESULTS: The CAMPHOR was translated without difficulty by the two panels. Cognitive debriefing interviews showed the questionnaire was easily understood and considered relevant to patients' experience with their illness. Psychometric evaluation was performed with 50 PAH patients (47 ± 14 years, 37 women). Cronbach's alpha coefficients showed good internal consistency for the three CAMPHOR scales [Symptoms = 0.95; Activities = 0.93 and QoL = 0.94]. Test-retest coefficients showed that all scales had excellent reliability (Symptoms = 0.94; Activities = 0.89 and QoL = 0.93), indicating low levels of random measurement error. The CAMPHOR correlated as expected with the NHP. The magnitude of correlations followed a similar pattern to those in the original development study. The CAMPHOR also exhibited evidence of known group validity in its ability to distinguish between self-reported severity and general health groups. CONCLUSIONS: A valid and reliable version of the CAMPHOR questionnaire for the European Portuguese-speaking population was developed and is recommended for use.info:eu-repo/semantics/publishedVersio

Two-Camera Acquisition and Tracking of a Flying Target

A method and apparatus have been developed to solve the problem of automated acquisition and tracking, from a location on the ground, of a luminous moving target in the sky. The method involves the use of two electronic cameras: (1) a stationary camera having a wide field of view, positioned and oriented to image the entire sky; and (2) a camera that has a much narrower field of view (a few degrees wide) and is mounted on a two-axis gimbal. The wide-field-of-view stationary camera is used to initially identify the target against the background sky. So that the approximate position of the target can be determined, pixel locations on the image-detector plane in the stationary camera are calibrated with respect to azimuth and elevation. The approximate target position is used to initially aim the gimballed narrow-field-of-view camera in the approximate direction of the target. Next, the narrow-field-of view camera locks onto the target image, and thereafter the gimbals are actuated as needed to maintain lock and thereby track the target with precision greater than that attainable by use of the stationary camera

Observations of aerosols over Southern California coastal waters

To characterize the background aerosol in air off the California coast, observations of suspended particles were made in the summer and fall of 1970 on San Nicolas Island (SNI), located about 130 km west-south-west of Los Angeles. Measurements of the physical and chemical properties of aerosols showed that the particles are a complex mixture of material from marine and continental origins. The Aitken nuclei population averaged 2400 cm−3, while the particles >0.5 μm diameter averaged 20–100 cm−3. The average total mass concentration of aerosol evaluated from 22 samples was 29.8 μg m−3, but the refined fraction defined as particles ~< 3.5 μm diameter was 40% of this level. The averages of the chemical analysis of 13 samples revealed that 11% of the aerosol sampled at a 200 m height above the ocean was sea salt, while approximately 20% evidently was soil dust, as indicated by silicates. Over 25% of the suspended material was found to be sulfate, nitrate or ammonium, which are constituents believed to be produced primarily from gaseous transformation reactions in the atmosphere. More than 20% of the sampled material was volatile in nature and is believed to be partly water. The ratio for the average chlorine to sodium concentrations from the analysis of 13 different samples was 2.4 compared with 1.8 for sea water. This high ratio supports other limited results for unpolluted air from offshore sources taken in this geographical region. The anomaly is believed to be linked with chemical reactions transforming gaseous chlorine compounds into condensed material. Comparison was made between the aerosol sampled on San Nicolas Island and the “natural” background contribution of the Los Angeles smog aerosol, as estimated elsewhere assuming contributions solely from sea salt and soil dust. The calculated background and the composition of the SNI aerosol were qualitatively similar, with the principal differences showing in Ca, Zn, SO4− and NO3−. Further comparison with aerosol analyzed from Pasadena illustrated the major contribution of localized pollution to the chemical properties of the particles, particularly in the concentrations of Mu, Ca, Br, Fe, Pb, SO4− and NO3−

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer

Transforming growth factor-â (TGF-â) signalling plays a key role in colorectal cancer (CRC). Bone morphogenetic protein-4 (BMP4) is a member of the TGF-â family of signal transduction molecules. To examine if germline mutation in BMP4 causes CRC we analysed 504 genetically enriched CRC cases (by virtue of early-onset disease, family history of CRC) for mutations in the coding sequence of BMP4. We identified three pathogenic mutations, p.R286X (g.8330C>T), p.W325C (g.8449G>T) and p.C373S (g.8592G>C), amongst the CRC cases which were not observed in 524 healthy controls. p.R286X localizes to the N-terminal of the TGF-â1 prodomain truncating the protein prior to the active domain. p.W325C and p.C373S mutations are predicted from protein homology modelling with BMP2 to impact deleteriously on BMP4 function. Segregation of p.C373S with adenoma and hyperplastic polyp in first-degree relatives of the case suggests germline mutations may confer a juvenile polyposis-type phenotype. These findings suggest mutation of BMP4is a cause of CRC and the value of protein-based modelling in the elucidation of rare disease-causing variants. © 2010 Wiley-Liss, Inc

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review prompted by a virtual multidisciplinary team meeting and subsequent bioinformatic prioritisation of data from the 100K Genomes Project was performed across 43 genes linked to well-characterised skeletal disorders. Ten individuals from three independent families were found to harbour diagnostic inversions. In two families, inverted segments of 1.2/14.8 Mb unequivocally disrupted GLI3 and segregated with skeletal features consistent with Greig cephalopolysyndactyly syndrome. For one family, phenotypic blending was due to the opposing breakpoint lying ~45 kb from HOXA13. In the third family, long suspected to have Marfan syndrome, a 2.0 Mb inversion disrupting FBN1 was identified. These findings resolved lengthy diagnostic odysseys of 9–20 years and highlight the importance of direct interaction between clinicians and data-analysts. These exemplars of a rare mutational class inform future SV prioritisation strategies within the NHS Genomic Medicine Service and similar genome sequencing initiatives. In over 30 years since these two disease-gene associations were identified, large inversions have yet to be described and so our results extend the mutational spectra linked to these conditions

Correction to: Adaptation and validation of the Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) for the Netherlands

Unfortunately the original version of this article contained Electronic Supplementary Material which should not have been published with the article due to copyright reasons. The original version has been updated and the ESM has been removed