Healthcare Transition Preparation in X-Linked Hypophosphatemia

Abstract Introduction/Background: X-linked-dominant hypophosphatemia (XLH), formally known as vitamin-D-resistant rickets, is a rare, hereditary, chronic and progressive skeletal disorder, often perceived as a childhood disease only. Its estimated prevalence is 1 in 20,000. The perception that XLH does not require treatment once the growth plates fuse means that many adolescents/young adults (AYA) are lost to follow-up and then seek care for chronic musculoskeletal symptoms, including the consequences of osteomalacia (bone pain, pseudofractures, fractures) during adulthood. There is a need to improve the healthcare transition (HCT) preparation for AYA with XLH and other rare metabolic bone disorders (MBD) to facilitate consistent and effective care throughout the life span and lessen the psychosocial and economic burden associated with these disorders. Methods/Statement of the Problem: HCT timelines, milestones, and educational tools exist for some chronic conditions such as diabetes or kidney disease, but these programs do not meet the unique needs and nuances of patients with XLH and other rare MBD as they transfer to adult-focused healthcare. Consequently, specific tools and resources tailored by disease experts for these AYA are needed. Results/Proposed Solution: Detailed timelines with milestones and a description of a HCT program for AYA with XLH and other rare MBD have been adapted from best practice protocols. This program reflects the specific needs of, and complexities associated with these conditions. Furthermore, this approach describes how to facilitate better communication between adult- and pediatric-focused providers and their interdisciplinary teams. Our approach is guided by patient/caregiver input and existing models for research/clinical care, with the use of validated tools to measure HCT readiness. We identified the need for psychosocial and access-related resources for AYA emancipation from parental involvement, including a guidance document for parents on how to empower their child to take ownership of the disease as they grow. In addition, it is helpful to provide disease education, genetic counselling and guidance on family planning, to encourage patients to advocate for their healthcare (as access to specialists may be limited by geographical location), and to facilitate communication/education to patients through channels familiar to and accepted by AYA (e.g. online portals, text messages). Clear HCT preparation guidelines and treatment-related goals are defined for all stakeholders. A portfolio of supporting materials underpins optimization of outcomes as AYA with XLH and rare MBD transfer from pediatric- to adult-focused healthcare. Conclusion: Development of HCT tools/resources specific to XLH and other rare MBDs can help prevent loss to follow-up and promote continuous clinical care, thus driving better outcomes for AYA with these conditions.

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Respiratory follow-up of patients with COVID-19 pneumonia

Thorax ◽

10.1136/thoraxjnl-2020-215314 ◽

2020 ◽

Vol 75 (11) ◽

pp. 1009-1016 ◽

Cited By ~ 10

Author(s):

Peter M George ◽

Shaney L Barratt ◽

Robin Condliffe ◽

Sujal R Desai ◽

Anand Devaraj ◽

...

Keyword(s):

Clinical Care ◽

Pulmonary Vascular Disease ◽

Guidance Document ◽

Respiratory Complications ◽

Thoracic Imaging ◽

Hospitalised Patients ◽

Increased Risk ◽

General Wards

The COVID-19 pandemic has led to an unprecedented surge in hospitalised patients with viral pneumonia. The most severely affected patients are older men, individuals of black and Asian minority ethnicity and those with comorbidities. COVID-19 is also associated with an increased risk of hypercoagulability and venous thromboembolism. The overwhelming majority of patients admitted to hospital have respiratory failure and while most are managed on general wards, a sizeable proportion require intensive care support. The long-term complications of COVID-19 pneumonia are starting to emerge but data from previous coronavirus outbreaks such as severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) suggest that some patients will experience long-term respiratory complications of the infection. With the pattern of thoracic imaging abnormalities and growing clinical experience, it is envisaged that interstitial lung disease and pulmonary vascular disease are likely to be the most important respiratory complications. There is a need for a unified pathway for the respiratory follow-up of patients with COVID-19 balancing the delivery of high-quality clinical care with stretched National Health Service (NHS) resources. In this guidance document, we provide a suggested structure for the respiratory follow-up of patients with clinicoradiological confirmation of COVID-19 pneumonia. We define two separate algorithms integrating disease severity, likelihood of long-term respiratory complications and functional capacity on discharge. To mitigate NHS pressures, virtual solutions have been embedded within the pathway as has safety netting of patients whose clinical trajectory deviates from the pathway. For all patients, we suggest a holistic package of care to address breathlessness, anxiety, oxygen requirement, palliative care and rehabilitation.

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Gastroesophageal Reflux Disease: A Gastroenterologist's Perspective

Perspectives on Voice and Voice Disorders ◽

10.1044/vvd21.3.89 ◽

2011 ◽

Vol 21 (3) ◽

pp. 89-99

Author(s):

Michael F. Vaezi

Keyword(s):

Gastroesophageal Reflux Disease ◽

Gastroesophageal Reflux ◽

Reflux Disease ◽

Best Practice ◽

Clinical Care ◽

Diagnostic Testing ◽

Diagnostic Tools ◽

Swallowing Function ◽

Atypical Symptoms

Gastroesophageal reflux disease (GERD) is a commonly diagnosed condition often associated with the typical symptoms of heartburn and regurgitation, although it may present with atypical symptoms such as chest pain, hoarseness, chronic cough, and asthma. In most cases, the patient's reduced quality of life drives clinical care and diagnostic testing. Because of its widespread impact on voice and swallowing function as well as its social implications, it is important that speech-language pathologists (SLPs) understand the nature of GERD and its consequences. The purpose of this article is to summarize the nature of GERD and GERD-related complications such as GERD-related peptic stricture, Barrett's esophagus and adenocarcinoma, and laryngeal manifestations of GERD from a gastroenterologist's perspective. It is critical that SLPs who work with a multidisciplinary team understand terminology, diagnostic tools, and treatment to ensure best practice.

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A Pilot Study of Mobile Telephone Message Interventions with Suicide Attempters in China

Crisis ◽

10.1027/0227-5910/a000017 ◽

2010 ◽

Vol 31 (2) ◽

pp. 109-112 ◽

Cited By ~ 35

Author(s):

Hui Chen ◽

Brian L. Mishara ◽

Xiao Xian Liu

Keyword(s):

Pilot Study ◽

Effective Means ◽

Text Message ◽

Text Messages ◽

Mobile Telephone ◽

Future Research ◽

Quick Method ◽

Suicide Attempters ◽

To Receive

Background: In China, where follow-up with hospitalized attempters is generally lacking, there is a great need for inexpensive and effective means of maintaining contact and decreasing recidivism. Aims: Our objective was to test whether mobile telephone message contacts after discharge would be feasible and acceptable to suicide attempters in China. Methods: Fifteen participants were recruited from suicide attempters seen in the Emergency Department in Wuhan, China, to participate in a pilot study to receive mobile telephone messages after discharge. All participants have access to a mobile telephone, and there is no charge for the user to receive text messages. Results: Most participants (12) considered the text message contacts an acceptable and useful form of help and would like to continue to receive them for a longer period of time. Conclusions: This suggests that, as a low-cost and quick method of intervention in areas where more intensive follow-up is not practical or available, telephone messages contacts are accessible, feasible, and acceptable to suicide attempters. We hope that this will inspire future research on regular and long-term message interventions to prevent recidivism in suicide attempters.

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Biomarkers of Acromegaly and Growth Hormone Action

Protein and Peptide Letters ◽

10.2174/0929866527666200420103816 ◽

2020 ◽

Vol 27 (12) ◽

pp. 1231-1245

Author(s):

Filippo Maffezzoni ◽

Teresa Porcelli ◽

Andrea Delbarba ◽

Letizia Pezzaioli ◽

Carlo Cappelli ◽

...

Keyword(s):

Growth Hormone ◽

Biological Markers ◽

Clinical Care ◽

Hormone Deficiency ◽

Surrogate Outcomes ◽

Current State ◽

Growth Hormone Action ◽

Igf I ◽

Definition Of

: Biological markers (biomarkers) play a key role in drug development, regulatory approval and clinical care of patients and are linked to clinical and surrogate outcomes. : Both acromegaly and Growth Hormone Deficiency (GHD) are pathological conditions related to important comorbidities that, in addition to having stringent diagnostic criteria, require valid markers for the definition of treatment, treatment monitoring and follow-up. GH and insulin-like growth factor-I (IGF-I) are the main biomarkers of GH action in children and adults while, in acromegaly, both GH and IGF-I are established biomarkers of disease activity. : However, although GH and IGF-I are widely validated biomarkers of GHD and acromegaly, their role is not completely exhaustive or suitable for clinical classification and follow-up. Therefore, new biological markers for acromegaly and GH replacement therapy are strongly needed. : The aim of this paper is to review and summarize the current state in the field pointing out new potential biomarkers for acromegaly and GH use/abuse.

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Best practice for chronic oedema in community settings: what can we learn?

British Journal of Community Nursing ◽

10.12968/bjcn.2020.25.12.610 ◽

2020 ◽

Vol 25 (12) ◽

pp. 610-614

Author(s):

Garry Cooper-Stanton

Keyword(s):

Service Provision ◽

Best Practice ◽

Evidence Base ◽

Community Services ◽

Guidance Document ◽

Community Settings ◽

Tissue Viability ◽

Delivery Of Care ◽

Specialist Nurses ◽

The Uk

There are various opportunities and challenges in the delivery of care to those diagnosed with chronic oedema/lymphoedema. Service provision is not consistent within the UK, and non-specialist nurses and other health professionals may be called on to fill the gaps in this area. The latest best practice guidance on chronic oedema is directed at community services that care for people within their own homes in primary care. This guide was developed in order to increase awareness, knowledge and access to an evidence base. Those involved in its creation cross specialist fields (lymphoedema and tissue viability), resulting in the document covering a number of areas, including an explanation of chronic oedema, its assessment and management and the association between chronic oedema and wet legs. The document complements existing frameworks on the condition and its management and also increases the available tools within chronic oedema management in the community. The present article provides an overview of the guidance document and discusses its salient features.

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The importance of maternal pregnancy vitamin D for offspring bone health: learnings from the MAVIDOS trial

Therapeutic Advances in Musculoskeletal Disease ◽

10.1177/1759720x211006979 ◽

2021 ◽

Vol 13 ◽

pp. 1759720X2110069

Author(s):

Rebecca J. Moon ◽

Elizabeth M. Curtis ◽

Stephen J. Woolford ◽

Shanze Ashai ◽

Cyrus Cooper ◽

...

Keyword(s):

Vitamin D ◽

Bone Development ◽

Controlled Trial ◽

Clinical Care ◽

Later Life ◽

Vitamin D Supplementation ◽

Public Health Policies ◽

Positive Effects

Optimisation of skeletal mineralisation in childhood is important to reduce childhood fracture and the long-term risk of osteoporosis and fracture in later life. One approach to achieving this is antenatal vitamin D supplementation. The Maternal Vitamin D Osteoporosis Study is a randomised placebo-controlled trial, the aim of which was to assess the effect of antenatal vitamin D supplementation (1000 IU/day cholecalciferol) on offspring bone mass at birth. The study has since extended the follow up into childhood and diversified to assess demographic, lifestyle and genetic factors that determine the biochemical response to antenatal vitamin D supplementation, and to understand the mechanisms underpinning the effects of vitamin D supplementation on offspring bone development, including epigenetics. The demonstration of positive effects of maternal pregnancy vitamin D supplementation on offspring bone development and the delineation of underlying biological mechanisms inform clinical care and future public-health policies.

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Effectiveness of Text Messaging as an Incentive to Maintain Physical Activity after Cardiac Rehabilitation: A Randomized Controlled Pilot Study

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18126645 ◽

2021 ◽

Vol 18 (12) ◽

pp. 6645

Author(s):

Giulia Foccardi ◽

Marco Vecchiato ◽

Daniel Neunhaeuserer ◽

Michele Mezzaro ◽

Giulia Quinto ◽

...

Keyword(s):

Physical Activity ◽

Cardiac Rehabilitation ◽

Exercise Testing ◽

Text Messages ◽

Control Group ◽

Stand Test ◽

Randomized Controlled ◽

Sit To Stand ◽

Significant Difference

Although the efficacy of cardiac rehabilitation (CR) is proven, the need to improve patients’ adherence has emerged. There are only a few studies that have investigated the effect of sending text messages after a CR period to stimulate subjects’ ongoing engagement in regular physical activity (PA). A randomized controlled pilot trial was conducted after CR, sending a daily PA text message reminder to an intervention group (IG), which was compared with a usual care control group (CG) during three months of follow-up. Thirty-two subjects were assessed pre- and post-study intervention with GPAQ, submaximal iso-watt exercise testing, a 30 s sit-to-stand test, a bilateral arm curl test, and a final survey on a seven-point Likert scale. A statistically significant difference in the increase of moderate PA time (Δ 244.7 (95% CI 189.1, 300.4) minutes, p < 0.001) and in the reduction of sedentary behavior time (Δ −77.5 (95% CI 104.9, −50.1) minutes, p = 0.004) was shown when the IG was compared with the CG. This was associated with an improvement in heart rate, blood pressure, and patients’ Borg rating on the category ratio scale 10 (CR10) in iso-watt exercise testing (all p < 0.05). Furthermore, only the IG did not show a worsening of the strength parameters in the follow-up leading to a change of the 30 s sit-to-stand test with a difference of +2.2 (95% CI 1.23, 3.17) repetitions compared to CG (p = 0.03). The telemedical intervention has been appreciated by the IG, whose willingness to continue with regular PA emerged to be superior compared to the CG. Text messages are an effective and inexpensive adjuvant after phase 2 CR that improves adherence to regular PA. Further studies are needed to confirm these results in a larger patient population and in the long term.

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Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network

Journal of Personalized Medicine ◽

10.3390/jpm11070647 ◽

2021 ◽

Vol 11 (7) ◽

pp. 647

Author(s):

Nina R. Sperber ◽

Olivia M. Dong ◽

Megan C. Roberts ◽

Paul Dexter ◽

Amanda R. Elsey ◽

...

Keyword(s):

Precision Medicine ◽

Program Implementation ◽

Clinical Care ◽

Genomic Medicine ◽

Implementation Strategies ◽

Clinical Decision ◽

Implementing Change ◽

Implementation Outcomes ◽

Planning Framework

The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project’s strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common; however, operationalization of each differed in accordance with each study’s implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.

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Delivery of the National Child Measurement Programme in England

Public Health Nutrition ◽

10.1017/s1368980020004991 ◽

2020 ◽

pp. 1-21

Author(s):

Martin Čadek ◽

Stuart W. Flint ◽

Ralph Tench

Keyword(s):

Public Health ◽

Local Government ◽

Best Practice ◽

Online Survey ◽

The Other ◽

Service Availability ◽

Healthy Weight ◽

Weight Category ◽

Convenience Sampling

Abstract Objective: The National Child Measurement Programme (NCMP) is a mandatory initiative delivered in England to children in reception and year 6. To date, no research has explored the methods used to deliver the NCMP by Local Government Authorities (LGA) across England. Design: An online survey was administered between February 2018 and May 2018 to explore the delivery of the NCMP across the 152 LGAs in England and disseminated using non-probability convenience sampling. Setting: LGAs received an anonymous link to the survey. Participants: A total of 92 LGAs participated in the survey. Results: Most LGAs who responded provide result feedback (86%), a proactive follow-up (71%) and referrals to services (80%). Additionally, 65% of the authorities tailor Public Health England specimen result letters to suit their needs, and 84% provide attachments alongside. Out of 71% of LGAs who provide proactive follow-up, 19 (29%) provide the proactive follow-up only to upper weight categories, and only 4 (6 %) include Healthy Weight category with other categories in proactive follow-up. Regarding the service availability for children, out of 80% of LGAs who indicated that services are available, 32 (43%) targeted solely upper weight categories while the other 42 (57%) offered services across all weight categories. Finally, most LGAs (88%) commission providers to manage various parts of the NCMP. Conclusions: The results show that LGAs in England localise the NCMP. Further guidance regarding standards of best practice would help LGAs to find the most suitable localisation out of various options that exist across other LGAs.

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A framework for the evaluation of patients with congenital facial weakness

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01736-1 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Bryn D. Webb ◽

Irini Manoli ◽

Elizabeth C. Engle ◽

Ethylin W. Jabs

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Patient Population ◽

Clinical Care ◽

Diagnostic Algorithm ◽

Accurate Diagnosis ◽

Facial Weakness ◽

The Core ◽

Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

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