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Heliyon Apr 2024Hereditary hemochromatosis (HH) is a disease characterized by disordered iron metabolism. It often involves mutations of the gene, which encodes the homeostatic iron...
Hereditary hemochromatosis (HH) is a disease characterized by disordered iron metabolism. It often involves mutations of the gene, which encodes the homeostatic iron regulator protein (HFE), as well as mutations affecting hepcidin antimicrobial peptide, hemojuvelin, or transferrin receptor 2. Historically, HH has been observed primarily in European and European diaspora populations, while classical HH is rare in Asian populations, including in China. In this article, we report a rare case of HH in a Chinese man that could be attributed to a heterozygous C282Y/H63D HFE mutation. Based on clinical examination, liver biopsy, and genetic testing results, the patient was diagnosed with HH. Clinical signs and symptoms and serum iron-related test results were recorded for a period of two years after the patient began treatment. Over this observation period, the patient was subjected to 25 phlebotomies (accounting for a total blood loss of 10.2 L). His serum ferritin levels decreased from 1550 μg/L to 454 μg/L, his serum iron concentration decreased from 40 μmol/L to 24.6 μmol/L, and his transferrin saturation decreased from 97.5% to 55.1%. Early diagnosis is essential for patients with HH to obtain good outcomes. Regular phlebotomy after diagnosis can improve HH symptoms and delay HH disease progression.
PubMed: 38560130
DOI: 10.1016/j.heliyon.2024.e28046 -
Haematologica Mar 2024Not available.
Not available.
PubMed: 38546672
DOI: 10.3324/haematol.2023.284658 -
International Journal of Molecular... Feb 2024Hemochromatosis represents clinically one of the most important genetic storage diseases of the liver caused by iron overload, which is to be differentiated from hepatic... (Review)
Review
Hemochromatosis represents clinically one of the most important genetic storage diseases of the liver caused by iron overload, which is to be differentiated from hepatic iron overload due to excessive iron release from erythrocytes in patients with genetic hemolytic disorders. This disorder is under recent mechanistic discussion regarding ferroptosis, reactive oxygen species (ROS), the gut microbiome, and alcohol abuse as a risk factor, which are all topics of this review article. Triggered by released intracellular free iron from ferritin via the autophagic process of ferritinophagy, ferroptosis is involved in hemochromatosis as a specific form of iron-dependent regulated cell death. This develops in the course of mitochondrial injury associated with additional iron accumulation, followed by excessive production of ROS and lipid peroxidation. A low fecal iron content during therapeutic iron depletion reduces colonic inflammation and oxidative stress. In clinical terms, iron is an essential trace element required for human health. Humans cannot synthesize iron and must take it up from iron-containing foods and beverages. Under physiological conditions, healthy individuals allow for iron homeostasis by restricting the extent of intestinal iron depending on realistic demand, avoiding uptake of iron in excess. For this condition, the human body has no chance to adequately compensate through removal. In patients with hemochromatosis, the molecular finetuning of intestinal iron uptake is set off due to mutations in the high-FE () genes that lead to a lack of hepcidin or resistance on the part of ferroportin to hepcidin binding. This is the major mechanism for the increased iron stores in the body. Hepcidin is a liver-derived peptide, which impairs the release of iron from enterocytes and macrophages by interacting with ferroportin. As a result, iron accumulates in various organs including the liver, which is severely injured and causes the clinically important hemochromatosis. This diagnosis is difficult to establish due to uncharacteristic features. Among these are asthenia, joint pain, arthritis, chondrocalcinosis, diabetes mellitus, hypopituitarism, hypogonadotropic hypogonadism, and cardiopathy. Diagnosis is initially suspected by increased serum levels of ferritin, a non-specific parameter also elevated in inflammatory diseases that must be excluded to be on the safer diagnostic side. Diagnosis is facilitated if ferritin is combined with elevated fasting transferrin saturation, genetic testing, and family screening. Various diagnostic attempts were published as algorithms. However, none of these were based on evidence or quantitative results derived from scored key features as opposed to other known complex diseases. Among these are autoimmune hepatitis (AIH) or drug-induced liver injury (DILI). For both diseases, the scored diagnostic algorithms are used in line with artificial intelligence (AI) principles to ascertain the diagnosis. The first-line therapy of hemochromatosis involves regular and life-long phlebotomy to remove iron from the blood, which improves the prognosis and may prevent the development of end-stage liver disease such as cirrhosis and hepatocellular carcinoma. Liver transplantation is rarely performed, confined to acute liver failure. In conclusion, ferroptosis, ROS, the gut microbiome, and concomitant alcohol abuse play a major contributing role in the development and clinical course of genetic hemochromatosis, which requires early diagnosis and therapy initiation through phlebotomy as a first-line treatment.
Topics: Humans; Hemochromatosis; Hepcidins; Reactive Oxygen Species; Alcoholism; Ferroptosis; Artificial Intelligence; Gastrointestinal Microbiome; Confounding Factors, Epidemiologic; Histocompatibility Antigens Class I; Hemochromatosis Protein; Membrane Proteins; Iron; Iron Overload; Ferritins; Ethanol; Liver Neoplasms
PubMed: 38473913
DOI: 10.3390/ijms25052668 -
Patient Preference and Adherence 2024Typical barriers to venous blood collection for wellness testing include discomfort, time spent, and collection site accessibility. This study assessed individuals'...
PURPOSE
Typical barriers to venous blood collection for wellness testing include discomfort, time spent, and collection site accessibility. This study assessed individuals' experience, satisfaction, and preference associated with a FDA-cleared blood-collection device, the BD MiniDraw™ Capillary Blood Collection System (BD MiniDraw), in retail locations.
PATIENTS AND METHODS
A total of 113 individuals (≥18 years) with venous blood collection experience were enrolled; 107 completed the study. A pre-collection survey gathered information on demographics and past experiences with healthcare and venous blood collection settings. BD MiniDraw collection was conducted at three retail sites (two pharmacies and one grocery store) by trained healthcare workers using the Babson BetterWay blood testing service model. A follow up survey was performed two weeks later to determine experience with, and preference for, BD MiniDraw in terms of staff professionalism, blood collection location, blood collection time, and staff trustworthiness.
RESULTS
Among the 107 participants, 74 (69%) were female and 33 (31%) were male; the mean age was 49 years (range=18-71 years). Sixty-six (62%) participants viewed their prior venipuncture experience as "somewhat" or "very" positive. Following capillary collection, 96 (90%) participants expressed a "somewhat" or "very" positive experience with BD MiniDraw at a retail location. In particular, "very satisfied" responses were given for location (87/107; 81%) and collection time (78/1407; 73%). In a subset of respondents (n=89), those reasons (location and time savings) were most frequent for likelihood of future use. Ninety-nine participants (92%) rated the retail blood collection team as "very" or "extremely" trustworthy. Overall, 90 participants (84%) "strongly preferred" (56/107; 52%), "somewhat preferred" (14/107; 13%), or had "no preference" (20/107; 19%) for BD MiniDraw, compared to traditional venous blood collection.
CONCLUSION
Most participants conveyed a preference for BD MiniDraw, primarily based on the blood collection retail location, perceived time savings, and professionalism and trustworthiness of the staff.
PubMed: 38444755
DOI: 10.2147/PPA.S437969 -
Cureus Jan 2024Traumatic hemorrhagic shock is a common yet life-threatening occurrence across the United States and is typically managed with blood transfusions as the standard of...
Traumatic hemorrhagic shock is a common yet life-threatening occurrence across the United States and is typically managed with blood transfusions as the standard of care. However, providers caring for a Jehovah's Witness patient who refuses transfusions due to religious reasons face unique ethical challenges in upholding evidence-based shock resuscitation protocols while respecting the patient's autonomy and faith-based stance that strictly prohibits blood products. We present a complex clinical case of a 46-year-old Jehovah's Witness who developed severe hemorrhagic shock, partial amputation, and critical anemia after a traumatic 40-mile-per-hour motorcycle collision resulting in comminuted fractures and arterial disruption. Despite receiving emergent blood transfusions initially, further transfusions were declined once his identity as a practicing Jehovah's Witness was disclosed. His hemoglobin plunged to dangerously low levels of 4.6 g/dL before stabilizing to 5.3 g/dL with pharmaceutical alternatives including intravenous iron, high-dose erythropoietin, and phlebotomy minimization. Respecting patient convictions while delivering effective evidence-based shock management created significant ethical conflicts given the proven efficacy of blood transfusions. However, this complex case demonstrates that through meticulous medical and surgical care coordinated by a multi-disciplinary team applying customized non-transfusion techniques, traumatic hemorrhagic shock and life-threatening anemia can still achieve favorable outcomes without relying on transfusions when respecting faith-based refusal of blood products.
PubMed: 38435957
DOI: 10.7759/cureus.53301 -
Microbiology Spectrum Apr 2024SARS-CoV-2 spreads pandemically since 2020; in 2021, effective vaccinations became available and vaccination campaigns commenced. Still, it is hard to track the spread...
SARS-CoV-2 spreads pandemically since 2020; in 2021, effective vaccinations became available and vaccination campaigns commenced. Still, it is hard to track the spread of the infection or to assess vaccination success in the broader population. Measuring specific anti-SARS-CoV-2 antibodies is the most effective tool to track the spread of the infection or successful vaccinations. The need for venous-blood sampling however poses a significant barrier for large studies. Dried-blood-spots on filter-cards (DBS) have been used for SARS-CoV-2 serology in our laboratory, but so far not to follow quantitative SARS-CoV-2 anti-spike reactivity in a longitudinal cohort. We developed a semi-automated protocol or quantitative SARS-CoV-2 anti-spike serology from self-sampled DBS, validating it in a cohort of matched DBS and venous-blood samples ( = 825). We investigated chromatographic effects, reproducibility, and carry-over effects and calculated a positivity threshold as well as a conversion formula to determine the quantitative binding units in the DBS with confidence intervals. Sensitivity and specificity reached 96.63% and 97.81%, respectively, compared to the same test performed in paired venous samples. Between a signal of 0.018 and 250 U/mL, we calculated a correction formula. Measuring longitudinal samples during vaccinations, we demonstrated relative changes in titers over time in several individuals and in a longitudinal cohort over four follow-ups. DBS sampling has proven itself for anti-nucleocapsid serosurveys in our laboratory. Similarly, anti-spike high-throughput DBS serology is feasible as a complementary assay. Quantitative measurements are accurate enough to follow titer dynamics in populations also after vaccination campaigns. This work was supported by the Bavarian State Ministry of Science and the Arts; LMU University Hospital, LMU Munich; Helmholtz Center Munich; University of Bonn; University of Bielefeld; German Ministry for Education and Research (proj. nr.: 01KI20271 and others) and the Medical Biodefense Research Program of the Bundeswehr Medical Service. Roche Diagnostics provided kits and machines for analyses at discounted rates. The project is funded also by the European-wide Consortium ORCHESTRA. The ORCHESTRA project has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No 101016167. The views expressed in this publication are the sole responsibility of the author, and the Commission is not responsible for any use that may be made of the information it contains.IMPORTANCESARS-CoV-2 has been spreading globally as a pandemic since 2020. To determine the prevalence of SARS-CoV-2 antibodies among populations, the most effective public health tool is measuring specific anti-SARS-CoV-2 antibodies induced by infection or vaccination. However, conducting large-scale studies that involve venous-blood sampling is challenging due to the associated feasibility and cost issues. A more cost-efficient and less invasive method for SARS-CoV-2 serological testing is using Dried-Blood-Spots on filter cards (DBS). In this paper, we have developed a semi-automated protocol for quantifying SARS-CoV-2 anti-spike antibodies from self-collected DBS. Our laboratory has previously successfully used DBS sampling for anti-nucleocapsid antibody surveys. Likewise, conducting high-throughput DBS serology for anti-spike antibodies is feasible as an additional test that can be performed using the same sample preparation as the anti-nucleocapsid analysis. The quantitative measurements obtained are accurate enough to track the dynamics of antibody levels in populations, even after vaccination campaigns.
Topics: Humans; SARS-CoV-2; Reproducibility of Results; COVID-19; Phlebotomy; Antibodies, Viral
PubMed: 38426747
DOI: 10.1128/spectrum.02885-23 -
Journal of Infusion Nursing : the...Peripheral intravenous cannulation and venipuncture are among the most common invasive procedures in health care and are not without risks or complications. The aim of... (Observational Study)
Observational Study
Peripheral intravenous cannulation and venipuncture are among the most common invasive procedures in health care and are not without risks or complications. The aim of this study was to evaluate the current training provided to nursing and midwifery undergraduate students. Student knowledge, attitude, practice, and performance regarding these procedural skills were assessed. A knowledge, attitude, and practices survey was disseminated to final year nursing and midwifery students as the first phase of this study. For the second phase of the study, nursing students were video recorded and then observed performing the skill of peripheral intravenous cannulation in a simulated environment. Thirty-eight nursing and midwifery students completed the survey, and 66 nursing students participated in the observation study. Descriptive statistics were performed. The mean knowledge score was 7.2 out of 15.0, (standard deviation [SD] = 2.4), and the mean attitude score was 10.20 out of 18.00 (SD = 4.79). Qualitative data from the survey were categorized to demonstrate specific areas of focus for improving the training. The mean performance score was 16.20 out of 28.00 (SD = 2.98). This study provides valuable input to developing and enhancing evidence-based curricula. It can help educators and supervisors, in both academic and clinical settings, identify areas where clinical performance and education could be enhanced.
Topics: Humans; Catheterization; Education, Nursing, Baccalaureate; Health Knowledge, Attitudes, Practice; Phlebotomy; Students, Nursing; Surveys and Questionnaires
PubMed: 38422404
DOI: 10.1097/NAN.0000000000000539 -
Journal of Ayub Medical College,... 2023Platelet concentrates play a crucial role in transfusion medicine, aiding in the management of various medical conditions, including haemorrhage, thrombocytopenia, and...
BACKGROUND
Platelet concentrates play a crucial role in transfusion medicine, aiding in the management of various medical conditions, including haemorrhage, thrombocytopenia, and platelet dysfunction. However, their storage conditions at 22° C present an optimal environment for bacterial growth, making them susceptible to contamination. Of particular concern is the transmission of microorganisms from the skin flora during the phlebotomy process, which can lead to the transfusion of contaminated platelet concentrates. Such contamination poses significant risks to patients, potentially resulting in morbidity and mortality. Determining the frequency and identifying causative organisms of bacterial contamination in platelet concentrates.
METHODS
It was a descriptive cross-sectional study conducted at the Institute of Pathology and Diagnostic Medicine, Khyber Medical University, and the Regional Blood Center in Peshawar from May to October 2021, spanning a duration of six months. The study included 500 participants aged between 18 and 50 years (mean: 28.13±7.67 years. A simple convenient sampling technique was employed. Blood products underwent screening for Hepatitis B, Hepatitis C, HIV, Syphilis, and Malaria. Leaked units were excluded from the study. Platelets were prepared using a Cryofuge and subsequently subjected to culture media.
RESULTS
The mean age of the participants included in the study was 28.13±7.67 years, with an age range of 18 to 50 years. Out of the total sample size of 500, there were 483 (96.6%) male participants and 17 (3.4%) female participants. Among the collected samples, bacterial growth was observed in only 11 (2.2%) platelet concentrates. The isolated organisms were Staphylococcus epidermidis, found in 7 (1.4%) platelet concentrates, and Staphylococcus aureus, found in 4 (0.8%) platelet concentrates.
CONCLUSIONS
Bacterial contamination of platelet bags is higher compared to developed countries. Therefore, implementing quality control procedures is necessary to reduce the risk of bacterial contamination in platelet concentrates. Additionally, employing enhanced skin disinfection techniques at the phlebotomy site can significantly minimize bacterial contamination.
Topics: Humans; Male; Female; Adolescent; Young Adult; Adult; Middle Aged; Platelet Transfusion; Cross-Sectional Studies; Blood Platelets; Bacteria; Staphylococcal Infections
PubMed: 38404090
DOI: 10.55519/JAMC-03-12113 -
The American Journal of Case Reports Feb 2024BACKGROUND Hyperparathyroidism is a common issue in patients on long-term hemodialysis, necessitating parathyroidectomy with deep venipuncture. These patients frequently...
BACKGROUND Hyperparathyroidism is a common issue in patients on long-term hemodialysis, necessitating parathyroidectomy with deep venipuncture. These patients frequently exhibit a heightened incidence of vascular calcification, complicating deep venipuncture and increasing the risk of associated complications. Therefore, a crucial aspect of preoperative assessment in this population involves identifying vascular calcification, with a preference for ultrasound-guided intraplane puncture. Special care is required to prevent blood vessel injuries and postoperative complications such as deep vein thrombosis. CASE REPORT We present the case of a 66-year-old woman with secondary hyperparathyroidism who encountered challenges during an internal jugular vein puncture, leading to subsequent thrombosis. Initial attempts were hindered by calcification of the internal jugular vein's vascular wall, resulting in stratified damage to the vessel's wall. However, the ultrasound-guided in-plane puncture technique successfully allowed the insertion of a central venous catheter without further damage to the vascular wall. On the postoperative fourth day, thrombus formation was observed in the damaged vascular wall from the initial puncture. CONCLUSIONS The ultrasound-guided in-plane puncture technique is advantageous in overcoming the difficulties associated with puncturing through deep vein calcification in patients with secondary hyperparathyroidism. This technique also diminishes the likelihood of complications such as venous thrombosis.
Topics: Female; Humans; Aged; Catheterization, Central Venous; Phlebotomy; Jugular Veins; Thrombosis; Ultrasonography, Interventional; Hyperparathyroidism, Secondary; Vascular Calcification
PubMed: 38379277
DOI: 10.12659/AJCR.943270