Evaluation of changes in sleep breathing patterns after primary palatoplasty in cleft children

Introduction: There is a need to more clearly understand the characteristics of breathing patterns in children with cleft palate in the first year of life, as there is little data available to guide current practice. Pierre Robin patients are known to have a higher incidence, however we hypothesised sleep breathing disturbance is not confined to this sub-group of cleft patient. Methods: We conducted a prospective observational study of sleep disordered breathing patterns in a cohort of infants with oro-nasal clefts (cleft palate with or without cleft lip) to describe the spectrum of sleep breathing patterns both pre and post palate repair. Sleep breathing studies were performed pre- and post-operatively in sequential infants referred to a regional cleft lip and palate unit. Results of sleep breathing studies were analysed according to American Academy of Sleep Medicine scoring guidelines and correlated with clinical history and details of peri-operative respiratory compromise. The degree of sleep disordered breathing was characterised using desaturation indices (number of desaturations from baseline SpO2 of >=4%, per hour). Results: Thirty-nine infants were included in this study, twenty-five female and fourteen male. Twelve had isolated Cleft Palate as part of an associated syndrome. Patients were categorised into Isolated Cleft Palate, Isolated Cleft Palate in the context of Pierre Robin Sequence, and those with Cleft Lip and Palate. All groups demonstrated some degree of sleep breathing abnormality. Not unsurprisingly the eight infants with Pierre Robin Sequence had a significantly higher desaturation index before surgical intervention (p=0.043), and were more likely to require a pre-operative airway intervention (p=0.009). Palate repair in this group did not alter the relative distribution of patients in each severity category of sleep disorder breathing. Surgical repair of the secondary palate in the remaining children was associated with some improvement but by no means complete resolution of their sleep disordered breathing patterns. Conclusions: We conclude that sleep breathing disturbance is not confined to Pierre Robin patients alone and all cleft palate patients should undergo pre-operative and post-operative sleep breathing analysis

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

[This corrects the article DOI: 10.1038/s42003-018-0226-0.]

A self administered reliable questionnaire to assess lower bowel symptoms

<p>Abstract</p> <p>Background</p> <p>Bowel symptoms are considered indicators of the presence of colorectal cancer and other bowel diseases. Self administered questionnaires that elicit information about lower bowel symptoms have not been assessed for reliability, although this has been done for upper bowel symptoms. Our aim was to develop a self administered questionnaire for eliciting the presence, nature and severity of lower bowel symptoms potentially related to colorectal cancer, and assess its reliability.</p> <p>Methods</p> <p>Immediately before consulting a gastroenterologist or colorectal surgeon, 263 patients likely to have a colonoscopy completed the questionnaire. Reliability was assessed in two ways: by assessing agreement between patient responses and (a) responses given by the doctor at the consultation; and (b) responses given by patients two weeks later.</p> <p>Results</p> <p>There was more than 75% agreement for 78% of the questions for the patient-doctor comparison and for 92% of the questions for the patient-patient comparison. Agreement for the length of time a symptom was present, its severity, duration, frequency of occurrence and whether or not medical consultation had been sought, all had agreement of greater than 70%. Over all questions, the chance corrected agreement for the patient-doctor comparison had a median kappa of 65% (which represents substantial agreement), interquartile range 57–72%. The patient-patient comparison also showed substantial agreement with a median kappa of 75%, interquartile range 68–81%.</p> <p>Conclusion</p> <p>This self administered questionnaire about lower bowel symptoms is a useful way of eliciting details of bowel symptoms. It is a reliable instrument that is acceptable to patients and easily completed. Its use could guide the clinical consultation, allowing a more efficient, comprehensive and useful interaction, ensuring that all symptoms are assessed. It will also be a useful tool in research studies on bowel symptoms and their predictive value for colorectal cancer and other diseases. Studies assessing whether bowel symptoms predict the presence of colorectal cancer should provide estimates of the reliability of the symptom elicitation.</p

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

"I won't be staying here for long": a qualitative study on the retention of migrant nurses in Ireland

<p>Abstract</p> <p>Background</p> <p>Although international nurse recruitment campaigns have succeeded in attracting large numbers of migrant nurses to countries such as Ireland, where domestic supply has not kept pace with demand, the long-term success of such initiatives from a workforce planning perspective will depend on the extent to which these nurses can be retained in destination countries.</p> <p>Methods</p> <p>This paper draws on qualitative, in-depth interviews undertaken with 21 migrant nurses in Ireland, focusing specifically on their future migration intentions.</p> <p>Results</p> <p>Our findings indicate that more than half of the respondents are considering migration onwards, for the most part because the destination country has failed to provide them with sufficient stability, particularly in terms of citizenship and family reunification. In considering onward migration, factors outside the health system were of most concern to those interviewed.</p> <p>Conclusion</p> <p>This demonstrates the need for destination countries to take a broader and more long-term approach to international nurse recruitment, rather than regarding it as an inexpensive way to fill gaps within the health care system.</p

Design Characteristics Influence Performance of Clinical Prediction Rules in Validation: A Meta-Epidemiological Study

BACKGROUND: Many new clinical prediction rules are derived and validated. But the design and reporting quality of clinical prediction research has been less than optimal. We aimed to assess whether design characteristics of validation studies were associated with the overestimation of clinical prediction rules' performance. We also aimed to evaluate whether validation studies clearly reported important methodological characteristics. METHODS: Electronic databases were searched for systematic reviews of clinical prediction rule studies published between 2006 and 2010. Data were extracted from the eligible validation studies included in the systematic reviews. A meta-analytic meta-epidemiological approach was used to assess the influence of design characteristics on predictive performance. From each validation study, it was assessed whether 7 design and 7 reporting characteristics were properly described. RESULTS: A total of 287 validation studies of clinical prediction rule were collected from 15 systematic reviews (31 meta-analyses). Validation studies using case-control design produced a summary diagnostic odds ratio (DOR) 2.2 times (95% CI: 1.2-4.3) larger than validation studies using cohort design and unclear design. When differential verification was used, the summary DOR was overestimated by twofold (95% CI: 1.2 -3.1) compared to complete, partial and unclear verification. The summary RDOR of validation studies with inadequate sample size was 1.9 (95% CI: 1.2 -3.1) compared to studies with adequate sample size. Study site, reliability, and clinical prediction rule was adequately described in 10.1%, 9.4%, and 7.0% of validation studies respectively. CONCLUSION: Validation studies with design shortcomings may overestimate the performance of clinical prediction rules. The quality of reporting among studies validating clinical prediction rules needs to be improved

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss

Reporting and Methods in Clinical Prediction Research: A Systematic Review

Walter Bouwmeester and colleagues investigated the reporting and methods of prediction studies in 2008, in six high-impact general medical journals, and found that the majority of prediction studies do not follow current methodological recommendations

Revisiting the Yorkshire Ripper Murders: Interrogating Gender Violence, Sex Work, and Justice

Between 1975 and 1980, 13 women, 7 of whom were sex workers, were murdered in the North of England. Aside from the femicide itself, the case was infamous for police failings, misogyny, and victim blaming. The article begins with a discussion of the serial murder of women as a gendered structural phenomenon within the wider context of violence, gender, and arbitrary justice. In support of this, the article revisits the above case to interrogate police reform in England and Wales in the wake of the murders, arguing that despite procedural reform, gendered cultural practices continue to shape justice outcomes for victims of gender violence. In addition, changes to prostitution policy are assessed to highlight how the historical and ongoing Othering and criminalization of street sex workers perpetuates the victimization of this marginalized group of women