Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management.

Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management. Presse Med. 2017 Nov 17;: Authors: Brissot P, Cavey T, Ropert M, Guggenbuhl P, Loréal O Abstract The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron. In contrast, iron excess in type 4A ferroportin disease is related to decreased cellular iron export. Whatever the HC type, the diagnosis rests on a non-invasive strategy, combining clinical, biological and imaging data. The mainstay of the treatment remains venesection therapy with the perspective of hepcidin supplementation for hepcidin deprivation-related HC. Prevention of HC is critical at the family level and, for type 1 HC, remains a major goal, although still debated, at the population level. PMID: 29158016 [PubMed - as supplied by publisher]
Source: Presse Medicale - Category: General Medicine Authors: Tags: Presse Med Source Type: research

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Condition:   Polycythemia Vera (PV) Interventions:   Drug: P1101;   Drug: Low-dose aspirin;   Procedure: Phlebotomy Sponsor:   PharmaEssentia Japan K.K. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
CONCLUSION: SVTs reduce sampling volume without increasing laboratory error. Follow-on effects include reduced fall in haemoglobin concentration and severe anaemia. These correlations are absent in long admissions. PMID: 31778631 [PubMed - in process]
Source: Critical Care and Resuscitation - Category: Intensive Care Tags: Crit Care Resusc Source Type: research
ConclusionsSeverely burned patients appear to be prone to develop HAA during hospitalization. The DBL volume contribute to the occurrence of moderate to severe HAA, which might be a modifiable target for preventing HAA.
Source: Burns - Category: Dermatology Source Type: research
In this study, an IgG antibody capture EIA was developed and validated to detect anti-HTLV-1/2 IgG in OF. OF and plasma specimens were obtained from seropositive HTLV-1/2-infected patients attending the National Centre for Human Retrovirology (n = 131) and from HTLV-1/2-uninfected individuals (n = 64). The assay showed good reproducibility and high diagnostic sensitivity (100%) and specificity (100%) using both OF and plasma. The Murex HTLV I+II commercial assay was evaluated and did not detect anti-HTLV-1/2 IgG in 14% (5/36) of OF specimens from seropositive donors. The reactivities of OF and plasma in the IgG capture cor...
Source: Journal of Clinical Microbiology - Category: Microbiology Authors: Tags: Immunoassays Source Type: research
CONCLUSIONS.—: The interventions implemented proved to increase the patient satisfaction in each of the measures. The electronic sign-in and whiteboards provided valuable information to both patients and staff. PMID: 31755777 [PubMed - as supplied by publisher]
Source: Archives of Pathology and Laboratory Medicine - Category: Laboratory Medicine Authors: Tags: Arch Pathol Lab Med Source Type: research
ConclusionThe MHI reflects severity of comorbidity, enabling objective assessment of a bariatric patient ’s metabolic health state, regardless day of sampling and surgery type. Next to weight-focused outcome measures like %TWL, the MHI can serve as outcome measure for metabolic health.
Source: Obesity Surgery - Category: Surgery Source Type: research
Conclusions: Plasma exo-miRNA content differed between NP higher- and lower-performing PLWH. Several differentially expressed exo-miRNAs were predicted to be involved in inflammation and neurodegeneration pathways. Exo-miRNA in plasma may indicate cross-talk between the circulation and central nervous system and thus may be clinically relevant for neurocognitive dysfunction in PLWH.
Source: JAIDS Journal of Acquired Immune Deficiency Syndromes - Category: Infectious Diseases Tags: Translational Research Source Type: research
Publication date: Available online 31 October 2019Source: Clinica Chimica ActaAuthor(s): Andrea Padoan, Sara Sirini, Raffaella Mazzone, Cristina Mesiti, Caterina Grillo, Brendan Meyer, Mario PlebaniAbstractBackgroundSmaller needles gauge (G) may reduce pain and improve vein access in difficult venous access (DVA). Aims were to compare the performances of two Beckton-Dickinson (BD) Vacutainer® Blood Collection Sets in a pediatric setting: UltraTouch™ Push Button (UT-PBBCS) and Safety-Lok™ (SLBCS).Materials and MethodsQuestionnaires were used to record venipuncture features, patient pain perception and phlebo...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Rationale: Hereditary hemochromatosis (HH) is a frequent autosomal recessive disease. The pathogenesis of disease is excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. As a systemic disease, it has several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease. However, a proportion of patients are asymptomatic. Patient concerns: A 34-year-old man who had abnormal liver function for 9 months without specific symptoms. He underwent various tests, including liver biopsy and genetic testing, which eventually ruled out common ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Abstract BACKGROUND: Smaller needles gauge (G) may reduce pain and improve vein access in difficult venous access (DVA). Aims were to compare the performances of two Beckton-Dickinson (BD) Vacutainer® Blood Collection Sets in a pediatric setting: UltraTouch™ Push Button (UT-PBBCS) and Safety-Lok™ (SLBCS). MATERIALS AND METHODS: Questionnaires were used to record venipuncture features, patient pain perception and phlebotomist difficulty score. Specimen quality was evaluated by hemolysis index (HI) on Roche Cobas® 6000. RESULTS: SLBCS (21/23G) or UT-PBBCS (23/25G) were used in 211 (50.2...
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research
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