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Molecular Genetics and Metabolism Nov 2019An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has...
BACKGROUND AND AIM
An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and likely pathogenic mechanisms of PRES in patients with acute hepatic porphyrias (AHP) and porphyric attacks.
METHODS
PubMed, Scopus, Ovid MEDLINE, and Google Scholar were searched (July 30, 2019). We included articles describing patients with convincing evidence of an AHP, confirmed porphyric attacks, and PRES in neuroimaging.
RESULTS
Forty-three out of 269 articles were included, which reported on 46 patients. Thirty-nine (84.8%) patients were women. The median age was 24 ± 13.8 years. 52.2% had unspecified AHP, 41.3% acute intermittent porphyria, 4.3% hereditary coproporphyria, and 2.2% variegate porphyria. 70.2% had systemic arterial hypertension. Seizures, mental changes, arterial hypertension, and hyponatremia occurred more frequently than expected for porphyric attacks (p < .001). Seizures and hyponatremia were also more frequent than expected for PRES. The most common distributions of brain lesions were occipital (81.4%), parietal (65.1%), frontal (60.5%), subcortical (40%), and cortical (32.5%). Cerebral vasoconstriction was demonstrated in 41.7% of the patients who underwent angiography. 19.6% of the patients had ischemic lesions, and 4.3% developed long-term sequelae (cognitive decline and focal neurological deficits).
CONCLUSIONS
Brain edema, vasoconstriction, and ischemia in the context of PRES likely account for central nervous symptoms in some porphyric attacks.
Topics: Adolescent; Adult; Brain; Central Nervous System; Child; Female; Humans; Magnetic Resonance Imaging; Male; Neuroimaging; Porphyrias; Posterior Leukoencephalopathy Syndrome; Young Adult
PubMed: 31706631
DOI: 10.1016/j.ymgme.2019.10.011 -
Experimental Dermatology Jun 2022The growing interest in the visualization of psoriatic nail unit changes has led to the discovery of an abundance of image characteristics across various modalities. (Review)
Review
BACKGROUND
The growing interest in the visualization of psoriatic nail unit changes has led to the discovery of an abundance of image characteristics across various modalities.
OBJECTIVE
To identify techniques for non-invasive imaging of nail unit structures in psoriatic patients and review extracted image features to unify the diverse terminology.
METHODS
For this systematic scoping review, we included studies available on PubMed and Embase, independently extracted image characteristics, and semantically grouped the identified features to suggest a preferred terminology for each technique.
RESULTS
After screening 753 studies, 67 articles on the visualization of clinical and subclinical psoriatic changes in the nail plate, matrix, bed, folds and hyponychium were included. We identified 4 optical and 3 radiological imaging techniques for the assessment of surface (dermoscopy [n = 16], capillaroscopy [n = 12]), sub-surface (ultrasound imaging [n = 36], optical coherence tomography [n = 4], fluorescence optical imaging [n = 3]), and deep-seated psoriatic changes (magnetic resonance imaging [n = 2], positron emission tomography-computed tomography [n = 1]). By condensing 244 image feature descriptions into a glossary of 82 terms, overall redundancy was cut by 66.4% (37.5%-77.1%). More than 75% of these image features provide additional disease-relevant information that is not captured using conventional clinical assessment scales.
CONCLUSIONS
This review has identified, unified, and contextualized image features and related terminology for non-invasive imaging of the nail unit in patients with psoriatic conditions. The suggested glossary could facilitate the integrative use of non-invasive imaging techniques for the detailed examination of psoriatic nail unit structures in research and clinical practice.
Topics: Arthritis, Psoriatic; Humans; Nail Diseases; Nails; Psoriasis; Severity of Illness Index
PubMed: 35353919
DOI: 10.1111/exd.14572 -
Clinical Chemistry and Laboratory... Mar 2022
Meta-Analysis
Topics: Biological Variation, Population; Copper; Humans; Selenium; Trace Elements; Zinc
PubMed: 34225400
DOI: 10.1515/cclm-2021-0723 -
Photodiagnosis and Photodynamic Therapy Jun 2024Protoporphyrin IX (PPIX) is the final precursor of heme, forming heme when iron is inserted. Individuals with erythropoietic protoporphyrias (EPP) have accumulation of... (Review)
Review
BACKGROUND
Protoporphyrin IX (PPIX) is the final precursor of heme, forming heme when iron is inserted. Individuals with erythropoietic protoporphyrias (EPP) have accumulation of PPIX, causing photosensitivity and increased liver disease risk. Many also have iron deficiency and anemia. We investigated outcomes of oral iron supplements in individuals with EPP.
METHODS
A systematic review identified literature on oral iron supplements in EPP patients. Subsequently, we administered iron supplements to EPP patients with iron deficiency. The primary outcome was impact on PPIX level. Secondary outcomes were adverse events and relative differences in hemoglobin and iron parameters.
RESULTS
The systematic review found 13 case reports and one uncontrolled clinical trial with uncertain results. From our department 10 patients with EPP and iron deficiency took daily dosages of 330 mg of ferrous fumarate for two months. Five of our patients had anemia at baseline. After 2 months of supplementation seven patients had increased PPIX level compared to baseline, two had decrease, one remained unchanged. The administration of iron led to a rise in ferritin, and in four of the anemic patients also to an improvement in blood hemoglobin. A small transiently elevation in plasma alanine transaminase concentration was observed during supplementation.
CONCLUSIONS
Overall, iron supplementation in EPP patients replenished iron stores and elevated erythrocyte PPIX and plasma alanine transaminase. For anemic patients, there was some degree of normalization of the hemoglobin level. If iron therapy is needed for EPP patients, monitoring of photosensitivity, PPIX, hemoglobin, and plasma liver enzymes is advisable.
Topics: Humans; Protoporphyria, Erythropoietic; Protoporphyrins; Dietary Supplements; Male; Female; Adult; Iron; Anemia, Iron-Deficiency; Middle Aged; Treatment Outcome
PubMed: 38734198
DOI: 10.1016/j.pdpdt.2024.104211 -
Clinical Chemistry Jan 2021Many studies have assessed the biological variation (BV) of cardiac-specific troponins (cTn), reporting widely varying within-subject BV (CVI) estimates. The aim of this... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Many studies have assessed the biological variation (BV) of cardiac-specific troponins (cTn), reporting widely varying within-subject BV (CVI) estimates. The aim of this study was to provide meta-analysis-derived BV estimates for troponin I (cTnI) and troponin T (cTnT) for different sampling intervals and states of health.
METHODS
Relevant studies were identified by a systematic literature search. Studies were classified according to their methodological quality by the Biological Variation Data Critical Appraisal Checklist (BIVAC). Meta-analyses of BIVAC-compliant studies were performed after stratification by cTn isoform, exclusion of results below the limit of detection, states of health, and sampling interval to deliver reference change values (RCV), index of individuality (II) and analytical performance specifications (APS) for these settings.
RESULTS
Sixteen and 15 studies were identified for cTnI and cTnT, respectively, out of which 6 received a BIVAC grade A. Five studies had applied contemporary cTnI assays, but none contemporary cTnT. High-sensitivity (hs-) cTnI and cTnT delivered similar estimates in all settings. Long-term CVI estimates (15.1; 11.3%) derived from healthy individuals were higher than short-term (4.3%; 5.3%) for hs-cTnI and hs-cTnT, respectively, although confidence intervals overlapped. Estimates derived from diseased subjects were similar to estimates in healthy individuals for all settings.
CONCLUSIONS
This study provides robust estimates for hs-cTnI and hs-cTnT applicable for different clinical settings and states of health, allowing for the use of RCV both to aid in the diagnosis of myocardial injury and for prognosis. BV-based APS appear too strict for some currently available technologies.
Topics: Biological Variation, Individual; Biomarkers; Cardiovascular Diseases; Humans; Kidney Diseases; Prognosis; Reference Values; Troponin I; Troponin T
PubMed: 33279972
DOI: 10.1093/clinchem/hvaa261 -
Frontiers in Genetics 2023Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide...
Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide comprehensive data on the clinical and gene variant characteristics and genotype-phenotype association of Chinese patients with AIP in order to improve clinicians' knowledge of AIP and reduce misdiagnosis and mistaken treatment. We searched the literature on Chinese patients with AIP in PubMed, Web of Science, Wiley Online Library, ScienceDirect and Chinese literature databases up to August 2023 in our analysis to explore the clinical and gene variant characteristics of Chinese patients with AIP. A total of 41 original articles associated with Chinese AIP patients were included for analysis: 97 variants were detected in 160 unrelated families, including 35 missense, 29 frameshift, 24 splicing and 9 nonsense variants, with c.517C>T being the most common variant. Clinical data were reported in 77 of 160 patients: Most of them were female (67/77) and the age was 28.8 ± 9.9 years. The most common symptom was abdominal pain (73/77, 94.8%), followed by central nervous system symptoms (45/77, 58.4%). 13.0% (10/77) of patients experienced psychiatric symptoms. Hyponatremia was the most common electrolyte abnormality (42/77). 31 patients received carbohydrate loading therapy, and 30 of them were improved. 6 patients were treated with carbohydrate loading combined with hemin therapy and 5 eventually improved. All variants causing premature stop codons, frameshifts or enzyme activity center may experience more severe clinical phenotypes such as seizures, respiratory paralysis, intracranial hemorrhage disorder or respiratory failure. The most common presenting symptom in Chinese AIP patients was abdominal pain, followed by central nervous system symptoms. The gene analysis in Chinese AIP patients revealed that the heterogeneity is strong and the most common variant was missense mutation, with c.517C>T being the most common variant. The genotype-phenotype association helps guide clinical diagnosis and treatment. However, the treatment for AIP in China is limited and monolithic, and more attention needs to be paid to the treatment.
PubMed: 38148975
DOI: 10.3389/fgene.2023.1291719 -
Postgraduate Medical Journal Dec 2020Trials studying iron administration in patients with chronic heart failure (CHF) and iron deficiency (ID) have sprung up these years but the results remain inconsistent.... (Meta-Analysis)
Meta-Analysis
Efficacy and safety of iron therapy in patients with chronic heart failure and iron deficiency: a systematic review and meta-analysis based on 15 randomised controlled trials.
Trials studying iron administration in patients with chronic heart failure (CHF) and iron deficiency (ID) have sprung up these years but the results remain inconsistent. The aim of this meta-analysis was to comprehensively evaluate the efficacy and safety of iron therapy in patients with CHF and ID. A literature search was conducted across PubMed, Embase, Cochrane Library, OVID and Web of Science up to 31 July 2019 to search for randomised controlled trials (RCT) comparing iron therapy with placebo in CHF with ID, regardless of presence of anaemia. Published studies reporting data of any of the following outcomes were included: all-cause death, cardiovascular hospitalisation, adverse events, New York Heart Association (NYHA) functional class, left ventricular ejection fraction (LVEF), N-terminal pro b-type natriuretic peptide, peak oxygen consumption, 6 min walking test (6MWT) distance and quality of life (QoL) parameters. 15 RCTs with a total of 1627 patients (911 in iron therapy and 716 in control) were included. Iron therapy was demonstrated to reduce the risk of cardiovascular hospitalisation (OR 0.35, 95% CI 0.12 to 0.99, p=0.049), but was ineffective in reducing all-cause death (OR 0.59, 95% CI 0.33 to 1.06, p=0.078) or cardiovascular death (OR 0.80, 95% CI 0.39 to 1.63, p=0.540). Iron therapy resulted in a reduction in NYHA class (mean difference (MD) -0.73, 95% CI -0.99 to -0.47, p<0.001), an increase in LVEF (MD +4.35, 95% CI 0.69 to 8.00, p=0.020), 6MWT distance (MD +35.44, 95% CI 11.55 to 59.33, p=0.004) and an improvement in QoL: EQ-5D score (MD +4.07, 95% CI 0.84 to 7.31, p=0.014); Minnesota Living With Heart Failure Questionnaire score (MD -19.47, 95% CI -23.36 to -15.59, p<0.001) and Patients Global Assessment (PGA) scale (MD 0.71, 95% CI 0.32 to 1.10, p<0.001). There was no significant difference in adverse events or serious adverse events between iron treatment group and control group. Iron therapy reduces cardiovascular hospitalisation in patients with CHF with ID, and additionally improves cardiac function, exercise capacity and QoL in patients with CHF with ID and anaemia, without an increase of adverse events.
Topics: Anemia, Iron-Deficiency; Heart Failure; Hematinics; Humans; Iron; Iron Deficiencies; Treatment Outcome
PubMed: 32843482
DOI: 10.1136/postgradmedj-2019-137342 -
Clinical Chemistry and Laboratory... Dec 2019Background Interpretation of the complete blood count (CBC) parameters requires reliable biological variation (BV) data. The aims of this study were to appraise the... (Meta-Analysis)
Meta-Analysis
Background Interpretation of the complete blood count (CBC) parameters requires reliable biological variation (BV) data. The aims of this study were to appraise the quality of publications reporting BV data for CBC parameters by applying the BV Data Critical Appraisal Checklist (BIVAC) and to deliver global BV estimates based on BIVAC compliant studies. Methods Relevant publications were identified by a systematic literature search and evaluated for their compliance with the 14 BIVAC criteria, scored as A, B, C or D, indicating decreasing compliance. Global CVI and CVG estimates with 95% CI were delivered by a meta-analysis approach using data from BIVAC compliant papers (grades A-C). Results In total, 32 studies were identified; four received a BIVAC grade A, 2 B, 20 C and 6 D. Meta-analysis derived CVI and CVG estimates were generally lower or in line with those published in a historical BV database available online. Except for reticulocytes, CVI estimates of erythrocyte related parameters were below 3%, whereas platelet (except MPV and PDW) and leukocyte related parameters ranged from 5% to 15%. Conclusions A systematic review of CBC parameters has provided updated, global estimates of CVI and CVG that will be included in the newly published European Federation of Clinical Chemistry and Laboratory Medicine BV Database.
Topics: Hematologic Tests; Humans
PubMed: 31503541
DOI: 10.1515/cclm-2019-0658 -
Dermatologic Therapy Sep 2022Gel formulation of chlormethine (CG) has gained a preeminent role among therapies available for mycosis fungoides (MF). To evaluate the frequency of use of CG for MF... (Review)
Review
Gel formulation of chlormethine (CG) has gained a preeminent role among therapies available for mycosis fungoides (MF). To evaluate the frequency of use of CG for MF treatment and to determine the limits and potentialities of CG in a real-world setting. A systematic review of articles published prior to October 2021 was performed. Articles were included in the review if a full-text English version was available. MEDLINE (PubMed), Scopus, and Web of Science were each queried from their date of inception with the following terms: "mechlorethamine gel", "chlormethine gel", and "mycosis fungoides". The reference lists of the studies retrieved were searched manually. Moreover, this study included all consecutive patients with different stages of MF (from IA to IIB) who started treatment with CG gel between July 2020 and May 2021. Data of the literature were compared to our single-center real-life experience. Of the surveyed literature, 11 publications were included in the final analysis describing a total of 548 patients with MF. Eleven patients with a median (standard deviation) age of 66 years (15.1) were enrolled and followed up, receiving CG (0.02% chlormethine HCl). Response to treatment resulted higher (90.1%) in our study population than in other real-world experiences published in literature. This systematic review supports the role of CG for MF treatment, showing its limits and potentialities. Our single-center real-life experience revealed an elevated percentage of clinical response with high safety and tolerance, demonstrating its versatile use with dose and application rate adaptability.
Topics: Aged; Gels; Humans; Mechlorethamine; Mycosis Fungoides; Skin Neoplasms
PubMed: 35778940
DOI: 10.1111/dth.15683 -
The Australasian Journal of Dermatology Feb 2022Non-invasive skin imaging features of main skin inflammatory and autoimmune diseases have been reported, although a comprehensive review of their correlation with...
BACKGROUND/OBJECTIVES
Non-invasive skin imaging features of main skin inflammatory and autoimmune diseases have been reported, although a comprehensive review of their correlation with histopathologic features is currently lacking. Therefore, the aim of this paper was to review the correlation of dermoscopic, reflectance confocal microscopy (RCM) and optical coherence tomography (OCT) criteria of main inflammatory and autoimmune skin diseases with their corresponding histopathologic criteria correlation.
METHODS
Studies on human subjects affected by main inflammatory and autoimmune diseases, defining the correlation of dermoscopic, RCM or OCT with histopathologic criteria, were included in the review. Five groups of diseases were identified and described: psoriasiform, spongiotic and interface dermatitis, bullous diseases and scleroderma.
RESULTS
Psoriasiform dermatitis was typified by white scales, corresponding to hyperkeratosis, and vessels, observed with RCM and OCT. Spongiosis, corresponding to dark areas within the epidermis with RCM and OCT, was the main feature of spongiotic dermatitis. Interface dermatitis was characterised by dermoepidermal junction obscuration. Blisters, typical of bullous diseases, were visualised as dark areas with RCM and OCT while scleroderma lesions were characterised by dermoscopic fibrotic beams, related to dermal thickness variations, with specific OCT and histopathologic correlations.
CONCLUSIONS
Although the role of RCM and OCT has yet to be defined in clinical practice, non-invasive skin imaging shows promising results on inflammatory and autoimmune skin diseases, due to the correlation with histopathologic features.
Topics: Dermatitis; Dermoscopy; Humans; Microscopy, Confocal; Psoriasis; Scleroderma, Localized; Skin Diseases, Vesiculobullous; Tomography, Optical Coherence
PubMed: 34423852
DOI: 10.1111/ajd.13695