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Lancet (London, England) May 2023Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and... (Review)
Review
Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death. This Seminar includes an update on the origins of haemochromatosis; and an overview pathophysiology, genetics, natural history, signs and symptoms, differential diagnoses, treatment with phlebotomy, outcomes, and future directions.
Topics: Humans; Hemochromatosis; Iron Overload; Liver Cirrhosis; Phlebotomy; Genetic Testing
PubMed: 37121243
DOI: 10.1016/S0140-6736(23)00287-8 -
The American Journal of Gastroenterology Aug 2019Hereditary hemochromatosis (HH) is one of the most common genetic disorders among persons of northern European descent. There have been recent advances in the diagnosis,... (Review)
Review
Hereditary hemochromatosis (HH) is one of the most common genetic disorders among persons of northern European descent. There have been recent advances in the diagnosis, management, and treatment of HH. The availability of molecular diagnostic testing for HH has made possible confirmation of the diagnosis for most patients. Several genotype-phenotype correlation studies have clarified the differences in clinical features between patients with the C282Y homozygous genotypes and other HFE mutation patterns. The increasing use of noninvasive tests such as MRI T2* has made quantification of hepatic iron deposition easier and eliminated the need for liver biopsy in most patients. Serum ferritin of <1,000 ng/mL at diagnosis remains an important diagnostic test to identify patients with a low risk of advanced hepatic fibrosis and should be used routinely as part of the initial diagnostic evaluation. Genetic testing for other types of HH is available but is expensive and generally not useful in most clinical settings. Serum ferritin may be elevated among patients with nonalcoholic fatty liver disease and in those with alcoholic liver disease. These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes. A secondary cause for liver disease should be excluded among patients with suspected iron overload who are not C282Y homozygotes. Phlebotomy remains the mainstay of therapy, but emerging novel therapies such as new chelating agents may have a role for selected patients.
Topics: Biomarkers; Chelating Agents; Ferritins; Genetic Testing; Genotype; Hemochromatosis; Humans; Phenotype; Phlebotomy
PubMed: 31335359
DOI: 10.14309/ajg.0000000000000315 -
Vox Sanguinis May 2020Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death... (Review)
Review
Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. The recognition of other aetiologies of elevated ferritin is also vital to ensure that appropriate intervention is provided and phlebotomy only utilized in patients who require it. In this review, we summarize the existing data on the work up and management of hereditary haemochromatosis and present a practical algorithm for the diagnosis and management of this disease.
Topics: Hemochromatosis; Humans; Mass Screening; Phlebotomy
PubMed: 32080859
DOI: 10.1111/vox.12896 -
Archives of Pathology & Laboratory... Jun 2022Laboratory directors are tasked with staffing laboratories in a manner that provides adequate services and maintains economic sustainability.
CONTEXT.—
Laboratory directors are tasked with staffing laboratories in a manner that provides adequate services and maintains economic sustainability.
OBJECTIVE.—
To determine the national normative rates of phlebotomy staffing and the types of laboratory operational characteristics that may be associated with the magnitude of those staffing levels.
DESIGN.—
Study participants provided data on inpatient and outpatient phlebotomy sites, including the numbers of patients receiving phlebotomy services, phlebotomy staff, and billable tests. From these data, we calculated performance indicators including the numbers of phlebotomies/phlebotomy full-time equivalent staff, outpatient phlebotomy visits/full-time equivalent staff, and average outpatient phlebotomy wait times. Participants also completed a survey of their laboratory phlebotomy practices.
RESULTS.—
This study was conducted during the third quarter of 2017. Forty-two institutions participated in this study, providing eligible results for 40 selected inpatient sites and 70 selected outpatient sites. The ratios for all performance indicators spanned between 3.3- and 142-fold. The median average outpatient phlebotomy wait time was 8 minutes. None of the performance indicators were associated with the practice variables that we chose to test.
CONCLUSIONS.—
The distribution of phlebotomy staffing performance indicators among the laboratories participating in this study varied widely, even among those groups performing similar volumes of tests.
Topics: Humans; Laboratories; Phlebotomy; Surveys and Questionnaires; Workforce
PubMed: 34784416
DOI: 10.5858/arpa.2021-0158-CP -
Current Opinion in Hematology Mar 2023Development of hepcidin therapeutics has been a ground-breaking discovery in restoring iron homeostasis in several haematological disorders. The hepcidin mimetic,... (Review)
Review
PURPOSE OF REVIEW
Development of hepcidin therapeutics has been a ground-breaking discovery in restoring iron homeostasis in several haematological disorders. The hepcidin mimetic, rusfertide, is in late-stage clinical development for treating polycythemia vera patients with a global phase 3 trial [NCT05210790] currently underway. Rusfertide serves as the first possible noncytoreductive therapeutic option to maintain haematocrit control and avoid phlebotomy in polycythemia vera patients. In this comprehensive review, we discuss the pathobiology of dysregulated iron metabolism in polycythemia vera, provide the rationale for targeting the hepcidin-ferroportin axis and elaborate on the preclinical and clinical trial evidence supporting the role of hepcidin mimetics in polycythemia vera.
RECENT FINDINGS
Recently, updated results from two phase 2 clinical trials [NCT04057040 & NCT04767802] of rusfertide (PTG300) demonstrate that the drug is highly effective in eliminating the need for therapeutic phlebotomies, normalizing haematological parameters, repleting iron stores and relieving constitutional symptoms in patients with polycythemia vera. In light of these findings, additional hepcidin mimetic agents are also being evaluated in polycythemia vera patients.
SUMMARY
Hepcidin agonists essentially serve as a 'chemical phlebotomy' and are poised to vastly improve the quality of life for phlebotomy requiring polycythemia vera patients.
Topics: Humans; Polycythemia Vera; Polycythemia; Hepcidins; Quality of Life; Iron Deficiencies; Phlebotomy; Iron
PubMed: 36728649
DOI: 10.1097/MOH.0000000000000747 -
JAMA Network Open Feb 2023Venipuncture is one of the most painful and distressing procedures experienced by pediatric patients. Emerging evidence suggests that providing procedural information... (Randomized Controlled Trial)
Randomized Controlled Trial
IMPORTANCE
Venipuncture is one of the most painful and distressing procedures experienced by pediatric patients. Emerging evidence suggests that providing procedural information and distraction using immersive virtual reality (IVR) may reduce pain and anxiety among children undergoing needle-related procedures.
OBJECTIVES
To examine the effects of IVR on reducing the pain, anxiety, and stress experienced by pediatric patients undergoing venipuncture.
DESIGN, SETTING, AND PARTICIPANTS
This 2-group randomized clinical trial recruited pediatric patients aged 4 to 12 years undergoing venipuncture from a public hospital in Hong Kong between January 2019 and January 2020. Data were analyzed from March to May 2022.
INTERVENTIONS
Participants were randomly allocated to an intervention (an age-appropriate IVR intervention offering distraction and procedural information) or a control (standard care only) group.
MAIN OUTCOMES AND MEASURES
The primary outcome was child-reported pain. Secondary outcomes included child-reported anxiety, heart rate, salivary cortisol, length of procedure, and satisfaction of health care professionals with the procedure (rated on a 40 point scale, with higher scores indicating greater satisfaction). Outcomes were assessed 10 minutes before, during, immediately after, and 30 minutes after the procedure.
RESULTS
A total of 149 pediatric patients were recruited, with 86 female patients (57.7%) and 66 patients (44.3%) diagnosed with fever. Compared with the 74 participants in the control group (mean [SD] age, 7.21 [2.49] years), the 75 participants in the IVR group (mean [SD] age, 7.21 [2.43] years) reported significantly less pain (β = -0.78; 95% CI, -1.21 to -0.35; P < .001) and anxiety (β = -0.41; 95% CI, -0.76 to -0.05; P = .03) immediately after the intervention. Health care professional satisfaction in the IVR group (mean [SD] score, 34.5 [4.5]) was significantly higher than that in the control group (mean [SD] score, 32.9 [4.0]; P = .03). Moreover, the length of venipuncture procedure in the IVR group (mean [SD] duration, 4.43 [3.47] minutes) was significantly shorter than that in the control group (mean [SD] duration, 6.56 [7.39] minutes; P = .03).
CONCLUSIONS AND RELEVANCE
In this randomized clinical trial, integrating procedural information and distraction in an IVR intervention for pediatric patients undergoing venipuncture significantly improved pain and anxiety in the IVR group compared with the control group. The results shed light on the global trends of research on IVR and its clinical development as an intervention for other painful and stressful medical procedures.
TRIAL REGISTRATION
Chinese Clinical Trial Registry identifier: ChiCTR1800018817.
Topics: Child; Humans; Female; Phlebotomy; Virtual Reality Exposure Therapy; Pain, Procedural; Pain; Anxiety
PubMed: 36795410
DOI: 10.1001/jamanetworkopen.2023.0001 -
Journal of Pediatric Nursing 2021The aim of this study was to determine the effect of the distraction cards, virtual reality and Buzzy® methods on venipuncture pain and anxiety in children aged... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
The aim of this study was to determine the effect of the distraction cards, virtual reality and Buzzy® methods on venipuncture pain and anxiety in children aged 7-12 years.
DESIGN AND METHODS
This was a randomized controlled trial with parallel groups conducted between November 16, 2017 and August 14, 2018 at the pediatric venipuncture unit of a university hospital in Western Turkey. The sample consisted of 142 children who met the inclusion criteria. The experimental group consisted of 108 children divided into three groups: Distraction Cards (DC; n = 35), Virtual Reality (VR; n = 37), and Buzzy® (n = 36). The control group (n = 34) received no intervention during venipuncture. Data were collected using a descriptive characteristics form, and the Visual Analog Scale (VAS), Wong-Baker FACES, and Children's Fear Scale (CFS). The participants themselves and their parents and the researcher scored venipuncture pain and anxiety levels. The study was approved by the Ethics Committee. Permission was obtained from related institutions. Informed consent was obtained from parents. Verbal consent was obtained from children prior to participation.
RESULTS
Buzzy® group had the lowest mean VAS score (2.2 ± 2.0), followed by the VR (2.7 ± 2.8), DC (3.4 ± 2.4), and control (5.2 ± 2.8) groups (p < 0.05). According to all raters (child, parent, and researcher), the Buzzy® group had the lowest mean Wong Baker FACES score, followed by the VR, DC, and control groups (p < 0.05). According to all raters, the Buzzy® group had the lowest mean CFS score, followed by the VR, DC, and control groups (p < 0.05).
CONCLUSIONS
The DC, VR, and Buzzy® methods were effective in reducing venipuncture pain and anxiety in children.
PRACTICE IMPLICATIONS
Nurses can use the DC, VR, and Buzzy® methods to help reduce venipuncture pain and anxiety in children. The clinical trial registration number is NCT04421430. (https://clinicaltrials.gov/ct2/show/study/NCT04421430).
Topics: Anxiety; Child; Humans; Pain; Pain Management; Phlebotomy; Turkey; Virtual Reality
PubMed: 33485746
DOI: 10.1016/j.pedn.2021.01.001 -
Minerva Pediatrics Apr 2023Shortly after birth, neonates are exposed to several painful medical procedures, such as newborn metabolic screening, vaccination and venipuncture, without proper...
INTRODUCTION
Shortly after birth, neonates are exposed to several painful medical procedures, such as newborn metabolic screening, vaccination and venipuncture, without proper management of pain. Unpleasant experiences during the neonatal period are proven to be associated with negative long-term consequences. Non-pharmacological interventions have been studied, although rarely administered and seldom documented. The aim of this systematic review was to assess non-pharmacological approaches to neonatal pain during diagnostic and treatment procedures.
EVIDENCE ACQUISITION
Extensive literature research to access randomized controlled trials on non-pharmacological pain management in neonates was performed in MEDLINE (through PubMed), Scopus and Web of Science from October 2011 to September 2021. First analysis included all article titles and abstracts screening to identify relevant studies, and second analysis included a full-text screening of previously selected studies. Eligibility was assessed independently by two authors, and disagreements were resolved by discussion and consensus. In the end, 19 published studies were included, representing a total of 1930 newborns. Main outcome, neonatal pain, was assessed by different neonatal pain evaluation scales.
EVIDENCE SYNTHESIS
Non-pharmacological interventions including sucrose/glucose solutions, non-nutritive sucking, breastfeeding, olfactive stimulus, auditory stimulus and sensory stimulus (skin-to-skin care, kangaroo/maternal holding, heat, therapeutic massage, swaddling/facilitated tucking and acupressure) showed decreased behavioral and physiologic pain responses.
CONCLUSIONS
Evidence suggests non-pharmacological approaches are safe, effective and can be easily applied in daily practice. There is the need for continued research on non-pharmacological interventions on neonatal pain to help healthcare providers build a tailored pain treatment plan for neonates submitted to procedural pain.
Topics: Humans; Punctures; Pain; Pain Management; Phlebotomy; Vaccination
PubMed: 35726765
DOI: 10.23736/S2724-5276.22.06871-9 -
Clinics in Perinatology Dec 2019Infants undergo painful procedures involving skin puncture as part of routine medical care. Pain from needle puncture procedures is suboptimally managed. Numerous... (Review)
Review
Infants undergo painful procedures involving skin puncture as part of routine medical care. Pain from needle puncture procedures is suboptimally managed. Numerous nonpharmacologic interventions are available that may be used for these painful procedures, including swaddling/containment, pacifier/non-nutritive sucking, rocking/holding, breastfeeding and breastmilk, skin-to-skin care, sweet tasting solutions, music therapy, sensorial saturation, and parental presence. Adoption these interventions into routine clinical practice is feasible and should be a standard of care in quality health care for infants. This review summarizes the epidemiology of pain from common needle puncture procedures in infants, the effectiveness of nonpharmacologic interventions, implementation considerations, and unanswered questions.
Topics: Breast Feeding; Catheterization, Central Venous; Catheterization, Peripheral; Humans; Infant; Infant, Newborn; Injections, Intramuscular; Injections, Subcutaneous; Kangaroo-Mother Care Method; Music Therapy; Pacifiers; Pain Management; Pain, Procedural; Parents; Phlebotomy; Punctures; Spinal Puncture; Sucrose; Sweetening Agents
PubMed: 31653304
DOI: 10.1016/j.clp.2019.08.006 -
European Journal of Pediatrics Jun 2022Among the distraction techniques used for the non-pharmacological management of acute pediatric pain, one of the most performed is clown therapy. Despite the presence in... (Meta-Analysis)
Meta-Analysis Review
UNLABELLED
Among the distraction techniques used for the non-pharmacological management of acute pediatric pain, one of the most performed is clown therapy. Despite the presence in the literature of some systematic reviews that evaluate its effectiveness, none of them examines its outcomes on procedural pain which has therefore been investigated in this study. The literature search for randomized controlled trials (RCTs) was performed on the Cochrane Library, MEDLINE, EMBASE, CINAHL, PsycINFO, Web of Science, and Scopus over a time frame ranging from each database setup date to 31 July 2021. The primary outcome was the procedural pain of children. We used the Cochrane Risk of Bias tool to assess the risk of bias of the included studies. Six RCTs were selected for this review, which included a total of 517 pediatric subjects. Children undergoing clown therapy during the venipuncture or peripheral vein cannulation procedure reported less pain than those exposed to the standard of care (SMD = -0.55; 95% CI: -1.23, 0.13) but the result was not found to be statistically significant. School-aged children and adolescent reported significantly less pain (SMD = -0.51; 95% CI: -0.92, -0.09). Compared to the standard of care, children's anxiety was significantly lower with clown therapy (SMD = -0.97; 95% CI: -1.38, -0.56).
CONCLUSION
Clown therapy seems effective in reducing procedural pain in children, particularly for older age groups, but due to poor methodological quality and the high risk of bias of the studies included, the results obtained should be considered with caution.
WHAT IS KNOWN
• Clown therapy is one of the most used techniques in the non-pharmacological management of acute pediatric pain. • Laughter physiologically stimulates the production of beta-endorphins, substances with an effect similar to opiates.
WHAT IS NEW
• Clown therapy seems effective in reducing procedural pain and anxiety in children. • The intervention in school-age children or adolescents produces a statistically significant decrease in the symptom.
Topics: Adolescent; Aged; Anxiety; Child; Humans; Pain; Pain Measurement; Pain, Procedural; Phlebotomy
PubMed: 35294645
DOI: 10.1007/s00431-022-04440-9