Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery. ...Despite a clear heritable component, the genetic aetiology leading to non-syndromic MVP has remained elusive. Four affected individuals from a large multigenerational family segregating non-syndromic MVP underwent capture sequencing of the linked interval on chromosome 11. We report a missense mutation in the DCHS1 gene, the human homologue of the Drosophila cell polarity gene dachsous (ds), that segregates with MVP in the family. Morpholino knockdown of the zebrafish homologue dachsous1b resulted in a cardiac atrioventricular canal defect that could be rescued by wild-type human DCHS1, but not by DCHS1 messenger RNA with the familial mutation. Further genetic studies identified two additional families in which a second deleterious DCHS1 mutation segregates with MVP. Both DCHS1 mutations reduce protein stability as demonstrated in zebrafish, cultured cells and, notably, in mitral valve interstitial cells (MVICs) obtained during mitral valve repair surgery of a proband. Dchs1(+/-) mice had prolapse of thickened mitral leaflets, which could be traced back to developmental errors in valve morphogenesis. DCHS1 deficiency in MVP patient MVICs, as well as in Dchs1(+/-) mouse MVICs, result in altered migration and cellular patterning, supporting these processes as aetiological underpinnings for the disease. Understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds potential for therapeutic insights for this very common disease.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, KISLJ, NUK, PILJ, PNG, SAZU, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
GENERAL PURPOSETo review what is known about pediatric pressure injuries (PIs) and the specific factors that make neonates and children vulnerable.
TARGET AUDIENCEThis continuing education activity ...is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care.
LEARNING OBJECTIVES/OUTCOMESAfter participating in this educational activity, the participant should be better able to:1. Identify the scope of the problem and recall pediatric anatomy and physiology as it relates to PI formation.2. Differentiate currently available PI risk assessment instruments.3. Outline current recommendations for pediatric PI prevention and treatment.
ABSTRACTPediatric patients, especially neonates and infants, are vulnerable to pressure injury formation. Clinicians are steadily realizing that, compared with adults and other specific populations, pediatric patients require special consideration, protocols, guidelines, and standardized approaches to pressure injury prevention. This National Pressure Advisory Panel white paper reviews this history and the science of why pediatric patients are vulnerable to pressure injury formation. Successful pediatric pressure injury prevention and treatment can be achieved through the standardized and concentrated efforts of interprofessional teams.
Pediatric patients are at risk for developing pressure ulcers (PUs) and associated pain, infection risk, and prolonged hospitalization. Stage III and IV ulcers are serious, reportable events. The ...objective of this study was to develop and implement a quality-improvement (QI) intervention to reduce PUs by 50% in our ICUs.
We established a QI collaborative leadership team, measured PU rates during an initial period of rapid-cycle tests of change, developed a QI bundle, and evaluated the PU rates after the QI implementation. The prospective study encompassed 1425 patients over 54 351 patient-days in the PICU and NICU.
The PU rate in the PICU was 14.3/1000 patient-days during the QI development and 3.7/1000 patient-days after QI implementation (P < .05), achieving the aim of 50% reduction. The PICU rates of stages I, II, and III conventional and device-related PUs decreased after the QI intervention. The PU rate in the NICU did not change significantly over time but remained at a mean of 0.9/1000 patient-days. In the postimplementation period, 3 points were outside the control limits, primarily due to an increase in PUs associated with pulse oximeters and cannulas.
The collaborative QI model was effective at reducing PUs in the PICU. Pediatric patients, particularly neonates, are at risk for device-related ulcers. Heightened awareness, early detection, and identification of strategies to mitigate device-related injury are necessary to further reduce PU rates.
Background
The immature skin of preterm infants is uniquely vulnerable to pressure and chemical injury. We sought to qualitatively and quantitatively describe the histopathologic patterns of skin ...development in preterm infants.
Methods
Autopsy skin samples were examined for 48 liveborn preterm infants born at 18+ to 36 weeks, and control groups of term neonates and older infants/children. Quantitative variables included thickness of the stratum corneum, epidermis, and dermis. Qualitative features included stratum corneum, rete ridges, and hair follicles.
Results
Patterns of maturation were reproducible. Compact keratin appeared beginning at 21–22 weeks. Basketweave keratin appeared first around hair follicles, and then became more generalized from ∼28 weeks corrected gestational age (CGA) onward. Rete ridges began to appear at ∼30 weeks. Epidemal and dermal thickness increased with age. Infants who survived ≤7 days had thicker dermis than those who survived longer, even adjusted for CGA.
Conclusions
Skin development in preterm infants has reproducible milestones. Significant structural changes occurring around 28–30 weeks may improve barrier function, with implications for use of topical compounds such as chlorhexidine. The findings also highlight challenges in evaluating pressure injuries in preterm infants, and postnatal changes in skin parameters.
Nutrition plays a vital role in promoting skin integrity and supporting tissue repair in the presence of chronic wounds such as pressure injuries (PIs). Individuals who are malnourished are at ...greater risk of polymorbid conditions, adverse clinical outcomes, longer hospital lengths of stay, PI development, and mortality, and incur increased healthcare costs compared with patients who are adequately nourished. In addition, some patient populations tend to be more vulnerable to PI formation, such as neonates, patients with obesity, older adults, and individuals who are critically ill. Accordingly, this article aims to review the latest nutrition care recommendations for the prevention and treatment of PIs, including those recommendations tailored to special populations. A secondary objective is to translate nutrition recommendations into actionable steps for the healthcare professional to implement as part of a patient plan of care.Implementing an evidence-based plan of care built around individualized nutrition interventions is an essential step supporting skin integrity for these populations. The 2019 Prevention and Treatment of Pressure Ulcers/Injuries: Clinical Practice Guideline (CPG) affirms that meeting nutrient requirements is essential for growth, development, maintenance, and repair of body tissues. Many macronutrients and micronutrients work synergistically to heal PIs. Registered dietitian nutritionists play an important role in helping patients identify the most nutrient dense foods, protein supplements, and oral nutrition supplements to meet their unique requirements.
COVID‐19 has infected millions of patients and impacted healthcare workers worldwide. Personal Protective Equipment (PPE) is a key component of protecting frontline clinicians against infection. The ...benefits of PPE far outweigh the risks, nonetheless, many clinicians are exhibiting skin injury caused by PPE worn incorrectly. These skin injuries, ranging from lesions to open wounds are concerning because they increase the susceptibility of viral infection and transmission to other individuals. Early into the COVID‐19 pandemic (April 2020), the U. S. National Pressure Injury Advisory Panel (NPIAP) developed a series of position statements to improve wear‐ability of PPE and protect healthcare professionals and their patients as safe from harm as possible under the circumstances. The NPIAP positions, which were formed by conducting a systematic review of what was known at the time, include: (a) Prepare skin before and after wearing PPE with skin sealants, barrier creams and moisturisers; (b) Frequent PPE offloading to relieve pressure and shear applied to skin; (c) treat visible skin injuries immediately caused by PPE to minimise future infection; (d) non‐porous dressings may provide additional skin protection, but lack evidence; (e) health systems should take care to educate clinicians about placement and personal hygiene related to handling PPE. Throughout all of these practices, handwashing remains a top priority to handle PPE. These NPIAP positions provided early guidance to reduce the risk of skin injury caused by PPE based on available research regarding PPE injuries, a cautious application of evidence‐based recommendations on prevention of device‐related pressure injuries in patients and the expert opinion of the NPIAP Board of Directors. Clinicians who adhere to these recommendations reduce the prospects of skin damage and long‐term effects (e.g. scarring). These simple steps to minimise the risk of skin injury and reduce the risk of coronavirus infection from PPE can help.
To review neonatal pressure injuries (PIs), including clinical features and challenges in evaluation and staging related to the unique anatomic features of preterm neonatal skin as well as the common ...sites and mechanisms of injury.
This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care.
After participating in this educational activity, the participant will:1. Recognize the causes of PIs in preterm neonates.2. Choose the outcomes of PIs in preterm neonates.3. Distinguish the common characteristics of preterm neonates' skin.4. Summarize the challenges clinicians face when classifying the PIs of preterm neonates.
Pressure injury (PI) development in hospital children poses a national concern. However, current PI prevention measures are based on risk factors for PI development in adults. (NPIAP, EPUAP, PPPIA, ...2019). Children offer a unique concern for PI development as their bodies are in the process of developing and their skin responds differently to external pressure. Currently, only two published studies have assessed risk factors for PI development in children (Fuji et al., 2010; Schindler et al, 2011). This research explored risk factors for the development of full-thickness PIs and MDRPIs and for PI development over body locations in children aged ≤28 weeks gestation – 21 years.The sample consisted of 799 children that developed a PI at an upper Midwest pediatric hospital. The results indicated differences in risk factors related to age, etiology, skin damage from pressure and body location. Multivariate analyses findings revealed that the risk factors for predicting a full-thickness PI included: 1) tissue perfusion and oxygenation: generalized edema and being in the OR (38 weeks gestation to 12 months), 2) malnutrition (38-week gestation - 12 months and total sample), 3) skin status: fragile (1 – 7 years), and 4) tissue perfusion and oxygenation: decreased oxygenation and ECMO (8 – 21 years old and total sample). Risk factors for a MDRPI included: 1) being in the OR (38-weeks to 12 months, ages 1 – 7 years and total sample), 2) decreased sensory perception (1 – 7 years old, total sample), 3) moisture (8 – 21 years, total sample) and 4) low hemoglobin, malnutrition, and skin dryness (total sample). Risk factors for a PI over the head and neck area included: 1) fragile skin (≤28-week gestation, total sample), 2) immobility (38-weeks – 12 months), 3) medical devices and critical illness (8 – 21 years), and 4) decreased sensory perception (8 – 21 years, total sample). Risk factors for a PI in the pelvic region include: 1) full-thickness PI (38-week – 12 months, 2) critical illness (1 – 7 years), 3) immobility-related PI (1 – 7 years, 8 – 21 years, total sample).The results will assist in developing PI prevention measures for the pediatric population.
Pressure ulcers are commonly acquired in pediatric institutions, and they are a key indicator of the standard and effectiveness of care. We recognized a high rate of tracheostomy-related pressure ...ulcers (TRPUs) in our ventilator unit and instituted a quality improvement program to develop and test potential interventions for TRPU prevention, condensed them into a clinical bundle, and then implemented the bundle into our standard practice.
The intervention model used a rapid-cycle, Plan-Do-Study-Act (PDSA), framework for improvement research. All tracheostomy-dependent patients admitted to our 18-bed ventilator unit from July 2008 through December 2010 were included. TRPU stage and description, number of days each TRPU persisted, and bundle compliance were recorded in real time. All TRPUs were staged by a wound-care expert within 24 hours. The interventions incorporated into the TRPU-prevention bundle included frequent skin and device assessments, moisture-reducing device interface, and pressure-free device interface.
There was a significant decrease in the rate of patients who developed a TRPU from 8.1% during the preintervention period, to 2.6% during bundle development, to 0.3% after bundle implementation. There was a marked difference between standard and extended tracheostomy tubes in TRPU occurrence (3.4% vs 0%, P = .007) and days affected by a TRPU (5.2% vs 0.1%, P < .0001).
Education and ongoing assessment of skin integrity and the use of devices that minimize pressure at the tracheostomy-skin interface effectively reduce TRPU even among a population of children at high risk. These interventions can be integrated into daily workflow and result in sustained effect.
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