Acceptability of childhood screening: a systematic narrative review.

OBJECTIVES: A systematic narrative literature review was undertaken to assess the acceptability of childhood screening interventions to identify factors to consider when planning or modifying childhood screening programs to maximize participation and uptake. STUDY DESIGN: This is a systematic narrative literature review. METHODS: Electronic databases were searched (MEDLINE, EMBASE, PsycINFO via Ovid, CINAHL, and Cochrane Library) to identify primary research studies that assessed screening acceptability. Studies were categorized using an existing theoretical framework of acceptability consisting of seven constructs: affective attitude, burden, ethicality, intervention coherence, opportunity costs, perceived effectiveness, and self-efficacy. A protocol was developed and registered with PROSPERO (registration no. CRD42018099763) RESULTS: The search identified 4529 studies, and 46 studies met the inclusion criteria. Most studies involved neonatal screening. Programs identified included newborn blood spot screening (n = 22), neonatal hearing screening (n = 13), Duchenne muscular dystrophy screening (n = 4), cystic fibrosis screening (n = 3), screening for congenital heart defects (n = 2), and others (n = 2). Most studies assessed more than one construct of acceptability. The most common constructs identified were affective attitude (how a parent feels about the program) and intervention coherence (parental understanding of the program, and/or the potential consequences of a confirmed diagnosis). CONCLUSIONS: The main acceptability component identified related to parental knowledge and understanding of the screening process, the testing procedure(s), and consent. The emotional impact of childhood screening mostly explored maternal anxiety. Further studies are needed to examine the acceptability of childhood screening across the wider family unit. When planning new (or refining existing) childhood screening programs, it is important to assess acceptability before implementation. This should include assessment of important issues such as information needs, timing of information, and when and where the screening should occur.

Correction: Management of nystagmus in children: a review of the literature and current practice in UK specialist services.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Management of nystagmus in children: a review of the literature and current practice in UK specialist services.

Nystagmus is an eye movement disorder characterised by abnormal, involuntary rhythmic oscillations of one or both eyes, initiated by a slow phase. It is not uncommon in the UK and regularly seen in paediatric ophthalmology and adult general/strabismus clinics. In some cases, it occurs in isolation, and in others, it occurs as part of a multisystem disorder, severe visual impairment or neurological disorder. Similarly, in some cases, visual acuity can be normal and in others can be severely degraded. Furthermore, the impact on vision goes well beyond static acuity alone, is rarely measured and may vary on a minute-to-minute, day-to-day or month-to-month basis. For these reasons, management of children with nystagmus in the UK is varied, and patients report hugely different experiences and investigations. In this review, we hope to shine a light on the current management of children with nystagmus across five specialist centres in the UK in order to present, for the first time, a consensus on investigation and clinical management.

Evaluating the impact of information and support for people with nystagmus in the digital age: A patient and carer questionnaire study.

Background: Nystagmus is a disorder of rhythmic, involuntary oscillations of the eyes and can be classified as either infantile or acquired. Whether it occurs in isolation or as a part of other visual or neurological disorders, it causes significant visual dysfunction and problems with social functioning. In this study, we seek to understand ways in which people with nystagmus are currently supported across the UK and identify any geographical variations or disconnects between current practice and best practice, as judged by patients and their carers.Methods: A nationwide, qualitative, cross-sectional, questionnaire study of people with nystagmus and their carers. Recruitment was achieved through specialist clinics, charity events, online advertisements and social media calls. Data was gathered using five, age-appropriate questionnaires which were completed and returned to the research team between November 2016 and August 2018.Results: 184 respondents were included (89 carers, 47 patients aged 4-10 years, 5 aged 11-14 years, 4 aged 15-17 years and 39 > 18 years). Notably, respondents rated social media as the best source of information they have received, even compared with face-to-face consultation with medical professionals. Additionally, only 33% of the respondents had been offered visual impairment support. Notably, patterns of clinical practice and patient experience emerged according to geographical location, particularly provision of initial information and ongoing VI support.Conclusions: This study highlights a significant variation in the support and information received by people in the UK with nystagmus. It also supports the role of charities and increasingly, social media in the provision of patient information. The study also highlights the need for standardized guidelines for the management of patients with nystagmus, particularly with regard to support and information.

Cross-disciplinarity in the advance of Antarctic ecosystem research.

The biodiversity, ecosystem services and climate variability of the Antarctic continent and the Southern Ocean are major components of the whole Earth system. Antarctic ecosystems are driven more strongly by the physical environment than many other marine and terrestrial ecosystems. As a consequence, to understand ecological functioning, cross-disciplinary studies are especially important in Antarctic research. The conceptual study presented here is based on a workshop initiated by the Research Programme Antarctic Thresholds - Ecosystem Resilience and Adaptation of the Scientific Committee on Antarctic Research, which focussed on challenges in identifying and applying cross-disciplinary approaches in the Antarctic. Novel ideas and first steps in their implementation were clustered into eight themes. These ranged from scale problems, through risk maps, and organism/ecosystem responses to multiple environmental changes and evolutionary processes. Scaling models and data across different spatial and temporal scales were identified as an overarching challenge. Approaches to bridge gaps in Antarctic research programmes included multi-disciplinary monitoring, linking biomolecular findings and simulated physical environments, as well as integrative ecological modelling. The results of advanced cross-disciplinary approaches can contribute significantly to our knowledge of Antarctic and global ecosystem functioning, the consequences of climate change, and to global assessments that ultimately benefit humankind.

Diffuse lymphangiomatosis of bone.

Two cases of lymphangiomatosis of bone, a very rare systemic condition characterized by both skeletal and parenchymal lesions, are presented. The skeletal changes have an appearance similar to haemangiomas in the spine, and soap-bubbly lesions in the flat bones. One case carried the diagnosis of eosinophilic granuloma for 18 years. The findings on MRI, which have not been previously well-established, are discussed.

Calcaneal fractures in diabetic patients.

We would like to present 23 calcaneal fractures in 22 patients of whom 21 had type I diabetes mellitus. There appear to be three basic fracture types: (1) a superiorly displaced extra-articular avulsion fracture of the posterior calcaneus (or Iowa fracture), which occurred in 12 patients (five men, seven women); (2) a mid-calcaneal compression fracture in six patients (four men, two women), and (3) a cleavage or "wedge" type fracture in four patients extending from the calcaneal tubercle (one man, 3 women). All four of this last group of patients had a history of a chronic penetrating ulcer, and this is noteworthy since only one other patient out of the remaining 18 in groups 1 and 2 had a similar history. Most patients had decreased bone mineralization: 15 patients were on long-term, high-dose steroids, and 18 patients had either poor renal function or complete renal failure (11 of 12). Fourteen patients had received either renal or pancreas transplants. Eight patients were on restricted weight bearing prior to their fractures. We believe that diabetic patients are more prone to calcaneal fractures than the general population, and early diagnosis is imperative, followed by early treatment to prevent significant bony deformity.

Effects of capsular contracture on ultrasonic screening for silicone gel breast implant rupture.

Unlike computed tomography and magnetic resonance imaging, ultrasound is an inexpensive test of potential use in detecting silicone gel breast implant (SBI) rupture. However, periprosthetic capsular contracture can make ultrasonic diagnosis of rupture difficult because the contracture-related radial folds inside the SBI can lead to a false-positive diagnosis of rupture. This study was conducted to determine the effects of capsular contracture on the ability of ultrasound to diagnose SBI rupture. Preoperative ultrasonic results of 122 SBIs were compared with surgical findings at the time of implant removal. The sensitivity and negative predictive values of ultrasound were lower in the presence of a contracted capsule (41.2% vs. 68.7%, p = 0.062; and 58.3% vs. 79.6%, p = 0.056 respectively). Ultrasound should be considered reliable in diagnosing SBI rupture only in the absence of a contracted capsule.

The use of MR imaging in the assessment and clinical management of stress reactions of bone in high-performance athletes.

Based on experience, the authors believe that MR imaging is a useful tool in the assessment and management of stress fractures and stress phenomenum of bone. The use of standard, graded MR evaluation aides the assessment of a repetitive stress injury to bone by allowing a more accurate diagnosis of bone injury. This more accurate assessment has predictive value in estimating the duration of disability. The use of a standard, graded MR evaluation aides the management of repetitive stress injuries to bone by defining a low grade of stress fracture (i.e., grade 1 and 2) injuries and a high grade of stress fracture (i.e., grade 3 and 4). This grading system has implications in the management of stress fractures, allowing more individualized treatment for the elite athlete.

The prevalence of diffuse idiopathic skeletal hyperostosis (DISH) in two large American Midwest metropolitan hospital populations.

OBJECTIVE: There are no published large-scale studies of the overall prevalence of diffuse idiopathic skeletal hyperostosis (DISH) and it has been proposed that the prevalence is greater than previously reported. We thus decided to review chest radiographs in a population of patients over 50 years of age seen at two large but differing metropolitan hospitals in a major American Mid-west city. DESIGN AND PATIENTS: The posterior-anterior and lateral chest radiographs of 1363 patients were reviewed for evidence of DISH at the University of Minnesota Hospital and Clinic. There were 500 consecutive inpatient admissions, 540 consecutive patients who attended the outpatient clinics and 326 patients collected from our film archive. A population of 1001 patients seen at Hennepin County Medical Center was also studied. It was possible to subclassify this latter group with respect to race. RESULTS AND CONCLUSION: Using strict criteria, i.e., four or more levels involved, the overall prevalence of DISH in the male population over age 50 years was 25% and in the female population over age 50 years was 15%. This prevalence climbed to 28% in males over 80 years and to over 35% in males over age 70 years. In females over 80 years, the prevalence was found to be 26%. Although our population base was small, DISH was found to be less common in the black, Native-American and Asian populations. The prevalence of DISH was also found to be far lower in a similar white population with osteoporosis. The overall prevalence of DISH was higher than expected in a predominantly white population over age 50 years with a lesser incidence in the black, Native-American and Asian populations, suggesting a genetic origin of the condition.

Use of MRI in evaluating postoperative changes in patients with bone and soft tissue tumors.

We reviewed the clinical, surgical and magnetic resonance imaging (MRI) findings in 80 patients who underwent resection of primary benign or malignant bone or soft tissue tumors. There were 18 benign and 62 malignant tumors. Although 31 patients were originally thought to have recurrence, on review only 20 patients were considered to have recurred. Of these, three were found only to have postoperative changes at surgery. Seventeen patients actually had recurrence of tumor. We believe that the presence of an actual mass lesion on MRI is the cornerstone for the correct diagnosis of recurrent tumor.

The biomechanics of gravity-dependent traction of the lumbar spine.

STUDY DESIGN: This study evaluated the biomechanical responses evoked by the use of a gravity-dependent, self-operated traction device. These responses were determined by radiographs and were correlated with the body weight of the patient who was supported by a seat strap. OBJECTIVES: To examine the biomechanical effectiveness of the LTX 3000 Lumbar Rehabilitation System. SUMMARY OF BACKGROUND DATA: The LTX 3000 Lumbar Rehabilitation System (Spinal Designs International, Minneapolis, MN) was used to administer the lumbar fraction. No previous study has been conducted on this device. METHODS: For each of the 14 healthy male patients (age range, 19-69 years), lumbar lengthening, alterations in spinal curvature, and thoracic spine movement were assessed using radiographs taken: 1) before traction; 2) at 2, 10, and 15 minutes after the onset of traction; and 3) 2 minutes after traction was completed. Strain on the buttocks-supporting seat strap was recorded continuously during study sessions. RESULTS: The entire patient pool displayed an average maximal lumbar lengthening of 6.39 +/- 4.21 mm. The amount of lumbar lengthening was influenced by the degree of thoracic immobilization and by the amount of prior LTX 3000 (Spinal Designs International) use. Significant curvature reduction was observed during and after traction for the entire patient pool. Strain measurements correlated well with the measured response in the radiographs. CONCLUSIONS: Proper use of the LTX 3000 (Spinal Designs International) induces significant lumbar lengthening and curvature reduction in healthy patients. Measurements of body weight supported by the seat strap could help determine if thoracic immobilization has been achieved and if the patient is responding to the lumbar unloading.