Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond.

The inaugural Aniridia North America (ANA) Symposium was held on the first weekend in November 2021 in Charlottesville, VA, at the University of Virginia. The purpose of this meeting was to bring together an international group of scientists, physicians, patient advocacy groups, and individuals with aniridia to discuss recent advances in knowledge about aniridia and other congenital eye diseases and the development of potential treatments for congenital eye disorders using personalized medicine. Leaders in several areas of eye research and clinical treatment provided a broad perspective on new research advances that impact an understanding of the causes of the damage to the eye associated with aniridia and the development of novel treatments for this and related disorders. Here we summarize the research discussed at the symposium.

Impact of a consumer health information specialization (CHIS) sponsorship program on the ability of public library staff to provide consumer health information.

OBJECTIVE: In 2018, the Network of the National Libraries of Medicine (NNLM) launched a sponsorship program to support public library staff in completing the Medical Library Association's Consumer Health Information Specialization (CHIS). The objectives of our study were to: (1) determine whether completion of the sponsored specialization improved ability to provide consumer health information; (2) identify new health information services, programming, and outreach activities at public libraries; (3) investigate benefits of the specialization; and (4) determine the impact of sponsorship on obtaining and continuing the specialization. METHODS: We used REDCap to administer a 16-question survey in August 2019 to 224 public library staff who were sponsored during the first year of the program. We measured competence in providing consumer health information aligned with the eight Core Competencies for Providing Consumer Health Information Services [1] as well as new activities at public libraries, benefits of the specialization to public library staff, career gains, and the likelihood of continuing the specialization based on funding. RESULTS: More than 80% of 136 participants reported an increase in core consumer health competencies, with a statistically significant improvement in mean competency scores after completing the specialization. Ninety percent of participants have continued their engagement with NNLM, and more than half offered new health information programs and services. While more than half planned to renew the specialization or obtain the Level II specialization, 72% indicated they would not continue without NNLM sponsorship. CONCLUSIONS: Findings indicate that NNLM sponsorship of the CHIS specialization was successful in increasing the capacity of public library staff to provide health information to their communities.

ECFS best practice guidelines: the 2018 revision.

Developments in managing CF continue to drive dramatic improvements in survival. As newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of patients who have minimal lung disease on diagnosis. With the introduction of mutation-specific therapies and the prospect of truly personalised medicine, patients have the potential to enjoy good quality of life in adulthood with ever-increasing life expectancy. The landmark Standards of Care published in 2005 set out what high quality CF care is and how it can be delivered throughout Europe. This underwent a fundamental re-write in 2014, resulting in three documents; center framework, quality management and best practice guidelines. This document is a revision of the latter, updating standards for best practice in key aspects of CF care, in the context of a fast-moving and dynamic field. In continuing to give a broad overview of the standards expected for newborn screening, diagnosis, preventative treatment of lung disease, nutrition, complications, transplant/end of life care and psychological support, this consensus on best practice is expected to prove useful to clinical teams both in countries where CF care is developing and those with established CF centres. The document is an ECFS product and endorsed by the CF Network in ERN LUNG and CF Europe.

The Opioid Crisis and the Physician's Role in Contributing to its Resolution: Step One--Prevention of Overdoses.

The escalation of opioid prescriptions, associated misuse, and related mortality continues to pose public health challenges in the United States. Data from the Centers for Disease Control and Prevention (CDC) indicates that opioid overdose death rates remain high, suggesting the need for improved access to, and use of naloxone to save lives. In this context, community-based overdose initiatives have trained laypersons to identify overdose and administer naloxone for reversal. Although there have been efforts to encourage physicians to prescribe naloxone to patients at-risk for opioid overdose, the rate of prescribing remains suboptimal. This article outlines the epidemiology of overdoses, discusses naloxone distribution programs and myths surrounding its use, and reviews relevant legislative developments in Connecticut and proper counseling of patients and families to encourage broader education and prescribing of naloxone.

Enteral tube feeding for cystic fibrosis.

BACKGROUND: Enteral tube feeding is routinely used in many cystic fibrosis centres when oral dietary and supplement intake has failed to achieve an adequate nutritional status. The use of this method of feeding is assessed on an individual basis taking into consideration the patients age and clinical status. OBJECTIVES: To examine the evidence that in people with cystic fibrosis, supplemental enteral tube feeding improves nutritional status, respiratory function, and quality of life without significant adverse effects. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also contacted the companies that market enteral feeds and reviewed their databases.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 13 February 2015.Date of the most recent hand search of PubMed and conference abstract books: 13 February 2015. SELECTION CRITERIA: All randomised controlled trials comparing supplemental enteral tube feeding for one month or longer with no specific intervention in people with cystic fibrosis. DATA COLLECTION AND ANALYSIS: The searches identified 38 trials; however, none were eligible for inclusion in this review. MAIN RESULTS: There are no trials included in this review. AUTHORS' CONCLUSIONS: Supplemental enteral tube feeding is widely used throughout the world to improve nutritional status in people with cystic fibrosis. The methods mostly used, nasogastric or gastrostomy feeding, are expensive and may have a negative effect on self-esteem and body image. Reported use of enteral tube feeding suggests that it results in nutritional and respiratory improvement; but, efficacy has not been fully assessed by randomised controlled trials. It is acknowledged, however, that performing a randomised controlled trial would be difficult due to the ethics of withholding an intervention in a group of patients whose nutritional status necessitates it.

The application of community psychology practice competencies to reduce health disparities.

This article demonstrates the application of community psychology practice competencies to health disparities reduction. It begins with a discussion of changes and evolution of the maternal child health field over nearly three decades, then describes implications for community psychology practice and the application of practice competencies.

Enteral tube feeding for cystic fibrosis.

BACKGROUND: Enteral tube feeding is routinely used in many cystic fibrosis centres when oral dietary and supplement intake has failed to achieve an adequate nutritional status. The use of this method of feeding is assessed on an individual basis taking into consideration the patients age and clinical status. OBJECTIVES: To examine the evidence that in people with cystic fibrosis, supplemental enteral tube feeding improves nutritional status, respiratory function, and quality of life without significant adverse effects. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also contacted the companies that market enteral feeds and reviewed their databases.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 03 September 2012.Date of the most recent hand search of PubMed and conference abstract books: 15 June 2012. SELECTION CRITERIA: All randomised controlled trials comparing supplemental enteral tube feeding for one month or longer with no specific intervention in people with cystic fibrosis. DATA COLLECTION AND ANALYSIS: Thirty-one trials were identified by the searches; however, none were eligible for inclusion in this review. MAIN RESULTS: There are no trials included in this review. AUTHORS' CONCLUSIONS: Supplemental enteral tube feeding is widely used throughout the world to improve nutritional status in people with cystic fibrosis. The methods mostly used, nasogastric or gastrostomy feeding, are expensive and may have a negative effect on self-esteem and body image. Reported use of enteral tube feeding suggests that it results in nutritional and respiratory improvement; but, efficacy has not been fully assessed by randomised controlled trials. It is acknowledged, however, that performing a randomised controlled trial would be difficult due to the ethics of withholding an intervention in a group of patients whose nutritional status necessitates it.

European cystic fibrosis bone mineralisation guidelines.

Patients with cystic fibrosis (CF) are at risk of developing low bone mineral density (BMD) and fragility fractures. This paper presents consensus statements that summarise current knowledge of the epidemiology and pathophysiology of CF-related skeletal deficits and provides guidance on its assessment, prevention and treatment. The statements were validated using a modified Delphi methodology.

A cross-sectional study of bone mineral density in children and adolescents attending a Cystic Fibrosis Centre.

BACKGROUND: Low bone mineral density is common in adults with cystic fibrosis. Children with good lung function compared to controls matched for body size have normal bone mineralisation. There are few data in large unselected populations of children. METHODS: All children between five and 16 years were invited to take part. Disease severity was assessed. Bone mineral measurements using a GE-Lunar Prodigy densitometer were expressed as age and gender matched Z-scores. Bone mineral apparent density for L2-L4 was estimated and data from UK Caucasian children used to create age and gender specific reference ranges for predicted values. Z-scores were calculated. Total body analysis utilised the Molgaard method. Blood was sampled for measurement of 25-hydroxyvitamin D, and parathyroid hormone levels. RESULTS: 107 children entered the study. 18 and 10 children had low areal and apparent bone mineral density respectively. Short, narrow bones were common. Fifteen children reported 22 fractures, 20 with associated trauma. The best predictors of bone status were ZBMI and percent predicted FEV(1). CONCLUSIONS: Bone mineral density corrected for body size was normal in over 90% of children. These results are similar to previously reported results in small studies of children with well preserved respiratory function.

Nutritional intake and status in children with cystic fibrosis: does age matter?

OBJECTIVES: To determine whether nutritional intake and status vary with age in children with cystic fibrosis (CF). METHODS: Case-control study examining differences in nutritional parameters and intakes in 58 children with CF recruited from a regional centre (2000-2001) and 45 controls. Participants were divided into age groups of 5-8 years, 9-12 years and 13-16 years. Weight, height, body mass index and standard deviation scores were recorded. A 4-day food diary (51 CF, 31 controls) was calculated for macronutrients and micronutrients. RESULTS: Energy intakes (%EAR) increased with age (112%, 115% and 116%, respectively) and were significantly higher in children with CF than controls. Lower weight and growth trends were observed in children ages 5 to 8 years (NS). Weight gain and growth was normal in children with CF ages 9 to 12 years but declined at 13 to 16 years (weight z score -0.85 vs 0.68 P = 0.003, height z score -0.54 vs 0.53 P = 0.002, body mass index z score -0.72 vs 0.41 P = 0.03). Lung function was the most significant predictor of nutritional status at 9 to 12 years (r2 = 0.37, P = 0.006) and 13 to 16 years (r2 = 0.31, P = 0.01), but was not significant in children ages 5 to 8 years. CONCLUSION: Energy intakes increased with age in children with CF and exceeded that of healthy peers in all age groups. Weight gain and growth equaled that of healthy peers at 9 to 12 years but was suboptimal at 5 to 8 years and dramatically declines at 13 to 16 years. Energy intakes were unable to meet the clinical demands of children in these age groups. Both remain vulnerable and require greater nutritional targeting.

Betterland: an interactive cd-rom guide for children with cystic fibrosis.

Effective management of cystic fibrosis (CF) depends on adherence to a daily multi-component regimen. Segregation policies have been reported to lead to a dramatic fall in the incidence of cross infection rates in specialist CF centres. Previously, peers provided a valuable source of information and support; segregation means that there is virtually no contact with other people with CF. In this context the Betterland CD-ROM was developed with the aim of improving knowledge and understanding and helping children and young people cope with time-consuming CF treatments (inhalation therapies and physiotherapy) and painful procedures by using filmed-model approaches. Betterland is an interactive computer game, designed in the style of a theme park. Patient and carer feedback has been positive and the CD-ROM has been incorporated into a nurse-led Moving to High School (MotHS) programme, as well as the patient education work of the CF multidisciplinary team, particularly clinical nurse specialists.

Diagnosis and treatment of intestinal malabsorption in cystic fibrosis.

Intestinal malabsorption is severe and of early onset in virtually all people who have cystic fibrosis. The main cause is deficiency of pancreatic enzymes. Bicarbonate deficiency, abnormal bile salts, mucosal transport problems, motility differences, and anatomical structural changes are other contributory factors. Effective treatment should allow a normal to high-fat diet to be taken, control symptoms, correct malabsorption, and achieve a normal nutritional state and growth. Appropriate pancreatic enzyme replacement therapy will achieve normal or near-normal absorption in most people with cystic fibrosis. Early identification and treatment of intestinal malabsorption is critical to achieving optimal nutritional status. The occurrence of fibrosing colonopathy in a few patients on very high doses of those enzymes which have the copolymer Eudragit L30 D55 in their covering resulted in guidelines in the UK to avoid doses equivalent to more than 10,000 IU lipase per kg per day, and also to avoid preparations containing this copolymer in children and adolescents. For patients not responding to 10,000 IU lipase per kg per day review of adherence to treatment, change of enzyme preparation, variation in time of administration, and reduction in gastric acid may improve absorption. The importance of early investigation to exclude other gastrointestinal disorders as a cause of the patient's symptoms, rather than merely increasing the dose of enzymes, is stressed. With modern pancreatic enzymes in doses up to or only slightly in excess of 10,000 IU lipase per kg per day, adequate control of gastrointestinal symptoms and absorption can be achieved, and a normal nutritional state and growth rate maintained in most people with cystic fibrosis.

Vitamin K status among children with cystic fibrosis and its relationship to bone mineral density and bone turnover.

OBJECTIVE: The aim of this study was to assess vitamin K status in an unselected population of children with cystic fibrosis (CF) and to investigate any vitamin K effect on bone turnover and bone mineral status. METHODS: Children > or =5 years of age who were attending the CF unit were invited to enter the study. Fasting blood samples were analyzed for levels of vitamin K1 and prothrombin produced in vitamin K absence; total, undercarboxylated, and carboxylated osteocalcin (OC); and bone-specific alkaline phosphatase and procollagen I carboxy-terminal propeptide (bone formation markers). Levels of N-telopeptide and free pyridinoline and deoxypyridinoline (bone breakdown products) were measured in urine samples. Bone mineral density and bone mineral content were measured at the lumbar spine and for the total body with a GE Lunar Prodigy densitometer. Statistical analyses were performed with Minitab version 9.1. RESULTS: One hundred six children entered the study. Sixty-five of 93 children (70%) from whom blood samples were obtained showed suboptimal vitamin K status, on the basis of low serum vitamin K1 levels, increased prothrombin produced in vitamin K absence levels, or both abnormalities. Vitamin K1 levels showed a significant negative correlation with undercarboxylated OC levels but showed no significant correlation with any marker of bone turnover or measurement of bone mineral status. Undercarboxylated OC levels were correlated significantly with bone turnover markers, which themselves showed a significant negative correlation with measurements of bone mineral density and content. There were no significant correlations between carboxylated or undercarboxylated OC levels and bone density measurements. CONCLUSIONS: Vitamin K1 deficiency is common among children with CF, and routine supplements should be considered. Through its role in the carboxylation of OC, vitamin K deficiency may be associated with an uncoupling of the balance between bone resorption and bone formation. A cause-effect relationship between vitamin K deficiency and low bone mass has not been proved.

Feeding behavior problems in children with cystic fibrosis in the UK: prevalence and comparison with healthy controls.

BACKGROUND: Feeding behavior problems contribute to inadequate dietary intake for many patients with cystic fibrosis (CF). However, to establish effective intervention programs, more needs to be known about the occurrence and distribution of these difficulties. The aims of this study were to establish the prevalence and range of disruptive child behaviors (DCB) in patients with CF and the inappropriate parental responses (IPR) during mealtimes and to compare the results with those of healthy children. METHODS: In study A, parents of 108 patients (aged 1-7 years) completed a Behavioural Paediatric Feeding Assessment Scale comprising two domains: DCBs and IPRs during mealtimes. Parents rated the frequency of the behaviors and responses and identified those they considered problematic. In study B, data from the CF group (n = 69, aged 1-12 years) were compared with 69 age- and sex-matched control subjects. RESULTS: Parents of children with CF aged 5 to 8 years recorded significantly more DCBs than those in all other age ranges. These parents also reported significantly more IPRs than did parents of children aged 9 to 12 years and 13 to 17 years. Parents of children with CF reported significantly more DCBs and IPRs than did those of the control subjects. There were significantly more problematic DCBs and IPRs in the CF group than in the control group for children aged 5 to 8 years and 9 to 12 years but not for those aged 1 to 4 years. CONCLUSIONS: Parents of children with CF report more feeding behavior problems than do those of healthy control subjects. The high prevalence of feeding behavior problems in older children suggests that preventative and reactive interventions must continue throughout childhood and vary according to the child's developmental abilities.