The reduction of cholesteryl linoleate in lipoproteins: an index of clinical severity in β-thalassemia/Hb E

2006 ◽  
Vol 44 (5) ◽  
Author(s):  
Rataya Luechapudiporn ◽  
Noppawan Phumala Morales ◽  
Suthat Fucharoen ◽  
Udom Chantharaksri
Keyword(s):  
Clinical Severity ◽  
Cholesteryl Linoleate ◽  
Hb E

Abstract

The Correlation of α-Globin Gene Mutations and theXmnI Polymorphism with Clinical Severity of Hb E/β-Thalassemia

Hemoglobin ◽  
2014 ◽  
Vol 38 (5) ◽  
pp. 335-338 ◽  
Author(s):  
Pimlak Charoenkwan ◽  
Pimjan Teerachaimahit ◽  
Torpong Sanguansermsri
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Clinical Severity ◽  
Hb E

scholarly journals Genetic Mutation of Hb E/beta Thalassemia Patient in Bangladesh and Its Relation With Clinical Severity

2021 ◽  
Author(s):  
Nishat Mahzabin ◽  
Md. Abdul Aziz ◽  
Md. Akhlak-Ul Islam ◽  
Nusrat Jahan ◽  
Md. Kamrul Hasan Sajib ◽  
...  
Keyword(s):  
High Performance ◽  
Mutational Analysis ◽  
Severe Disease ◽  
Genetic Mutation ◽  
Clinical Severity ◽  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Cross Sectional ◽  
Hemoglobin E ◽  
Hb E

Abstract Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

scholarly journals A Study of Phenotypic Heterogeneity in Hb E-Beta Thalassemia and Its Correlation with Hb E Level

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1365-1365 ◽  
Author(s):  
Maitryee Bhattyacharyya ◽  
Basab Bagchi ◽  
Meet Kumar
Keyword(s):  
Disease Severity ◽  
Conflicts Of Interest ◽  
Age Of Onset ◽  
Clinical Phenotype ◽  
Phenotypic Heterogeneity ◽  
Clinical Severity ◽  
Beta Thalassemia ◽  
Disease Modifying Drugs ◽  
Hb E ◽  
Size Growth

Abstract INTRODUCTION: Hb E-beta thalssemia has variable clinical phenotype, varying from NTDT to severe transfusion dependent thalassemia. Factors influencing the severity include HbF level, type of beta mutation, co-inheritance of alpha mutation (including triplication and quadruplication), and various polymorphisms. We evaluate the possible correlation between HbE levels and clinical severity in patients in Hb E-beta thalassemia. AIMS AND OBJECTIVES: To study the phenotypic heterogeneity of Hb E-beta thalassemia patients with respect to Hb E levels. MATERIALS AND METHODS: Patients >18years were enrolled and evaluated for clinical phenotype as per Mahidol score (age of onset, age of first transfusion, requirement for transfusion, spleen size, growth retardation and steady-state hemoglobin), and classified into mild, moderate and severe. Further biochemical data was evaluated including serum ferritin. The clinical phenotype severity was correlated with HbE and HbF levels. Patients on disease modifying drugs (eg hydroxyurea) were excluded. RESULTS: A total of 120 patients of Hb E-beta thalassemia were enrolled with M:E = 1.1:1. 65.8% patients were 18-30 years age range, while 5.8% were above 50years of age. As per Mohidol score, 39.2% (47) patients were mild, 45.8% (55) were moderate and 15% (18) were severe phenotype. Observations amongst patients of different clinical severity are as shown in Table 1. Abstract 1365. Table 1.CharacterMildModerateSevereRangeP valueNumber475518Baseline Hb (g/dl)7.9+-0.96.4+-1.16.2+-0.73.8-10.30.000Age at presentation (years)18.3+-8.7613.1+-8.03.16+-2.081-440.000Age at 1st transfusion (years)22.1+-11.415.1+-8.763.9+-1.91-600.000Freq of transfusion (annual)2.5+-4.512.2+-7.619.3+-11.40-480.000Spleen size (cms)5.6+-2.47.8+-2.910.4+-3.40-150.000Serum ferritin (ng/ml)792.5+-534.61206.5+-523.91570.5+-581.264.2-2924.20.000 Hb E levels of the patients ranged from 28% to 83.5%, and HbF levels ranged from 3.1% to 49.4%. On statistical analysis, difference in HbE levels was significant between severe vs mild and intermediate groups (p=0.0005 and 0.012 respectively), but not amongst mild vs intermediate groups (p=0.21). Also, difference in HbF levels was significant between mild vs moderate and severe groups (p=0.007 and 0.004 respectively), but not between moderate vs severe groups (p=0.26). Regression analysis showed HbF and HbE to be independent parameters of severity and both have negative correlation with disease severity. CONCLUSION: HbE is an independent parameter of severity and correlated negatively with disease severity in HbE-beta thalassemia. Disclosures No relevant conflicts of interest to declare.

scholarly journals Clinical Severity of β-thalassaemia/Hb E Disease Is Associated with Differential Activities of the Calpain-Calpastatin Proteolytic System

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e37133 ◽  
Author(s):  
Suriyan Sukati ◽  
Saovaros Svasti ◽  
Roberto Stifanese ◽  
Monica Averna ◽  
Nantika Panutdaporn ◽  
...  
Keyword(s):  
Clinical Severity ◽  
Proteolytic System ◽  
Hb E

Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with β thalassemia

Blood ◽  
2004 ◽  
Vol 103 (9) ◽  
pp. 3296-3299 ◽  
Author(s):  
Vip Viprakasit ◽  
Voravarn S. Tanphaichitr ◽  
Worrawut Chinchang ◽  
Pakarat Sangkla ◽  
Mitchell J. Weiss ◽  
...  
Keyword(s):  
Disease Severity ◽  
Globin Gene ◽  
Genetic Modifier ◽  
Clinical Severity ◽  
Cell Protein ◽  
Monogenic Disease ◽  
Extended Haplotype ◽  
Clinical Phenotypes ◽  
Hb E

Abstract Although β thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical β globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed red cell protein (alpha hemoglobin stabilizing protein [AHSP]), which can stabilize free α globin chains in vitro, could influence disease severity in patients with β thalassemia. To address this hypothesis, we studied 120 patients with Hb E-β thalassemia with mild, moderate, or severe clinical phenotypes. Using gene mapping, direct genomic sequencing, and extended haplotype analysis, we found no mutation or specific association between haplotypes of AHSP and disease severity in these patients, suggesting that AHSP is not a disease modifier in Hb E-β thalassemia. It remains to be seen if any association between AHSP and clinical severity is present in other population groups with a high frequency of β thalassemia. (Blood. 2004;103:3296-3299)

Primary varicose veins

Phlebologie ◽  
2010 ◽  
Vol 39 (03) ◽  
pp. 133-137
Author(s):  
H. Partsch
Keyword(s):  
Varicose Veins ◽  
Compression Therapy ◽  
Daily Practice ◽  
Clinical Severity ◽  
Compression Stockings ◽  
Primary Varicose Veins ◽  
The Cost ◽  
Convincing Data ◽  
Long Term Studies

SummaryBackground: Compression stockings are widely used in patients with varicose veins. Methods: Based on published literature three main points are discussed: 1. the rationale of compression therapy in primary varicose veins, 2. the prescription of compression stockings in daily practice, 3. studies required in the future. Results: The main objective of prescribing compression stockings for patients with varicose veins is to improve subjective leg complaints and to prevent swelling after sitting and standing. No convincing data are available concerning prevention of progression or of complications. In daily practice varicose veins are the most common indication to prescribe compression stockings. The compliance depends on the severity of the disorder and is rather poor in less severe stages. Long-term studies are needed to proof the cost-effectiveness of compression stockings concerning subjective symptoms and objective signs of varicose veins adjusted to their clinical severity. Conclusion: Compression stockings in primary varicose veins are able to improve leg complaints and to prevent swelling.

Plasma Fibrin Stabilising Factor (F. S. F.) Activity in Normal Subjects and Patients with Chronic Liver Disease

1969 ◽  
Vol 21 (01) ◽  
pp. 134-143 ◽  
Author(s):  
W. D Walls ◽  
M. S Losowsky
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Clinical Improvement ◽  
Quantitative Estimation ◽  
Kinetic Method ◽  
Normal Subjects ◽  
Chronic Liver ◽  
Clinical Severity ◽  
Plasma Fibrinogen ◽  
Normal Range

SummaryA kinetic method for the quantitative estimation of plasma F.S.F. activity is described and discussed.This method was applied to normal subjects and to patients with chronic liver disease. The plasma F.S.F. activity was uninfluenced by either sex or age, and the normal range has been defined.A significant decrease in plasma F.S.F. activity was observed in patients with chronic liver disease. Subnormal levels of activity were found in 25% of such patients but were unrelated to episodes of abnormal haemorrhage. Plasma F.S.F. activity tended to be lower in patients with disease of greater clinical severity. In 2 patients showing clinical improvement there was an increase in plasma F. S. F. activity.It was confirmed that plasma fibrinogen levels increase with age.

Bleeding Classification in Clinical Trials: Observer Variability and Clinical Relevance

1997 ◽  
Vol 78 (04) ◽  
pp. 1189-1192 ◽  
Author(s):  
Yvonne P Graafsma ◽  
Martin H Prins ◽  
Anthonie W A Lensing ◽  
Rob J de Haan ◽  
Menno V Huisman ◽  
...  
Keyword(s):  
Major Bleeding ◽  
Clinical Relevance ◽  
Area Under The Curve ◽  
Weighted Kappa ◽  
Clinical Severity ◽  
Minor Bleeding ◽  
Recent Trial ◽  
Bleeding Episodes ◽  
The Impact ◽  
Adjudication Committee

SummaryTo evaluate the bleeding classification in a recent trial on venous thrombosis treatment, a selection of reported bleeding episodes was adjudicated twice by an independent committee and graded by the treating physician and independent clinical experts on the clinical severity and impact on the patient’s life.The kappa values for the dichotomy major bleeding versus minor or no bleeding were 0.79 (95% CI, 0.57-1.0) for the agreement between the two members of the adjudication committee and 0.77 (95% CI, 0.52-1.0) for the agreement between both adjudication sessions. The kappa values for the dichotomy major or minor bleeding versus no bleeding were 0.42 and 0.44. The weighted kappa values for the agreement between the treating physician and the independent experts were 0.76 for the Clinical severity and 0.79 for the impact on the patient’s life (95% CI, 0.63-0.88 and 0.70-0.89). The association between the adjudication result expressed as major bleeding or minor or no bleeding and the Clinical grading by the treating physician resulted in an ROC curve with an area under the curve of 0.98 for the Clinical severity and 0.99 for the impact on the patient’s life. The dichotomy major or minor bleeding versus no bleeding resulted in areas under the curve of 0.70 and 0.66.In conCIusion, the applied criteria for major bleeding are reproducible and Clinically relevant. The criteria for minor bleeding are not reproducible and are less associated with the observed Clinical relevance.

Dry Needling Can Be An Alternative Treatment for Hemifacial Spasm

2020 ◽  
Vol 6 (2) ◽  
pp. 20-28
Author(s):  
Selly Marisdina ◽  
Henry Sugiharto ◽  
A Pradian
Keyword(s):  
Botulinum Toxin ◽  
Hemifacial Spasm ◽  
Alternative Treatment ◽  
Epidemiological Data ◽  
Clinical Severity ◽  
Decompression Surgery ◽  
Dry Needling ◽  
Significant Difference ◽  
Microvascular Decompression Surgery ◽  
Botulinum Toxin Injections

Back Ground: Hemifacial spasm is one of movement disorder case that commonly found in daily clinical practice. Epidemiological data are very limited, the average prevalence is 11 per 100,000 population, 14.5 per 100,000 in women and 7.4 per 100,000 in men. In Germany, the estimated prevalence is 8000 to 9000 peoples.1 The incidence of women is more than that of men with a ratio of 2:1. Based on Yaltho and Jankovic study in 2011, out of 215 patients, the ratio of men to women was 1:1.8.2 One study in Indonesia also reported that most of the subjects were female (64.7%).3 Treatment with botulinum toxin injections is preferred to microvascular decompression surgery therapy, but this injection is only effective in a few months and quite expensive. This study is the first study to assess the effectiveness of dry needling on clinical improvement of hemifacial spasm compared to standard therapy of botulinum toxin injection.Methods: The study design was quasi experimental. Total of 24 subjects were divided into two groups. The first group underwent dry needling intervention while the other had botulinum injection. Clinical severity before and after treatment in both groups was assessed using Jankovic and HFS7 scores.Results: In dry needling group there were significant differences between Jankovic and HFS7 score at baseline and at week 1, 2, 3 and 4. While in botox group significant differences were also Jankovic and HFS7 score at baseline and at weeks 2 and 4. There were also a significant difference of Jankovic and HFS7 score when we compared dry needling group to botulinum toxin group.Conclusion: Dry needling can be an alternative treatment for hemifacial spasm, although clinical improvements based on Jankovic and HFS7 scores in dry needling group were not as effective as those with botulinum toxin injections.

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