The Application of Clinical and Molecular Diagnostic Techniques to Identify a Rare Haemoglobin Variant.

Haemoglobin disorders represent a heterogeneous group of inherited conditions that involve at least one genetic abnormality in one or more of the globin chains, resulting in changes in the structure, function, and/or amount of haemoglobin molecules, which are very important for their related clinical aspects. Detecting and characterizing these disorders depends primarily on laboratory methods that employ traditional approaches and, when necessary, newer methodologies essential for solving a number of diagnostic challenges. This review provides an overview of key laboratory techniques in the diagnosis of haemoglobinopathies, focusing on the challenges, advancements, and future directions in this field.

Vitamin D Levels and SARS-CoV-2 Infection among Medically Underserved Populations in the Minority and Rural Coronavirus Insights Study.

Background: Extant literature presents contradictory findings on the role of vitamin D on SARS-CoV-2 infection. Our study included an examination of the relationship between vitamin D levels and SARS-CoV-2 infection among the Minority and Rural Coronavirus Insights Study (MRCIS) cohort, a diverse population of medically underserved persons presenting at five Federally qualified health centers in the United States.

Methods: We conducted a descriptive analysis to explore the relationship between vitamin D levels and SARS-CoV-2 infection among medically underserved participants.

Correlations Between Relative Prevalence of Celiac Disease and Sociodemographic Variables in the United States.

Introduction: We evaluated the associations between celiac disease (CD) prevalence and regional sociodemographic variables in the United States.

Methods: The outcome was CD relative prevalence, defined as number of patients with CD among those in a Medicare registry per 3-digit ZIP code. Linear regression models assessed associations between relative prevalence of CD and sociodemographic variables.

Factor XIII and Endothelial Dysfunction in Patients with Systemic Sclerosis.

Systemic sclerosis (SSc, scleroderma) is a severe autoimmune connective tissue disease which affects the skin and internal organs. There has been evidence that coagulation factor XIII (FXIII) has a positive impact on clinical results in patients with SSc. In a single-center cohort study, we investigated the relationship between coagulation FXIII, endothelial dysfunction, and skin infection in SSc.

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants.

Aim: We performed the first comprehensive analysis of diagnostic, clinical, genetic, and epidemiological aspects of HK deficiency.

Methods: We collected clinical information and blood samples from a newly detected HK-deficient individual and from published cases identified by a systematic literature review.

Endothelial dysfunction and atherosclerosis related miRNA-expression in patients with haemophilia.

Introduction: Elevated markers of endothelial dysfunction and inflammation indicate worse endothelial function in the aging haemophilia population. MicroRNAs (miRNAs) regulate gene expression post-transcriptionally. Several miRNAs have been shown to be involved in the process of endothelial dysfunction and atherosclerosis.

Mild Acquired Factor XIII Deficiency and Clinical Relevance at the ICU-A Retrospective Analysis.

Acquired FXIII deficiency is a relevant complication in the perioperative setting; however, we still have little evidence about the incidence and management of this rarely isolated coagulopathy. This study aims to help find the right value for the substitution of patients with an acquired mild FXIII deficiency. In this retrospective single-center cohort study, we enrolled critically ill patients with mild acquired FXIII deficiency (>5% and ≤70%) and compared clinical and laboratory parameters, as well as pro-coagulatory treatments.

Endothelial Function in Patients With Von Willebrand Disease.

In patients with von Willebrand disease (vWD) the interest in age-related comorbidities has grown, because the life expectancy of these patients has increased. The research question of this study was whether patients with vWD show a different endothelial function compared to the general population. A total of 37 patients with type 1 (n = 23), type 2 (n = 10) and type 3 (n = 4) vWD, 14 controls and 38 patients with coronary artery disease (CAD) were included in this study.

The Use of Near-Infrared Light-Emitting Fluorescent Nanodiamond Particles to Detect Ebola Virus Glycoprotein: Technology Development and Proof of Principle.

Background: There is a dire need for rapid diagnostic tests of high sensitivity, efficiency, and point-of-test reporting capability to mitigate lethal viral epidemic outbreaks.

Purpose: To develop a new operating system within the lateral flow assay (LFA) format for Ebola virus (EBOV), based on fluorescent nanodiamond particles (FNDP) nitrogen vacancy (NV) emitting near-infrared (NIR) light. Specifically, we aimed to detail technical issues and the feasibility of mobilizing FNDP-NV on nitrocellulose membranes (NCM) and capturing them at test and control lines.

Statistical shape modelling provides a responsive measure of morphological change in knee osteoarthritis over 12 months.

Objectives: Responsive biomarkers are needed to assess the progression of OA and their lack has hampered previous clinical trials. Statistical shape modelling (SSM) from radiographic images identifies those at greatest risk of fast-progression or joint replacement, but its sensitivity to change has not previously been measured. This study evaluates the responsiveness of SSM in knee OA in a 12-month observational study.

Endothelial Function in Patients with Severe and Moderate Haemophilia A and B.

The life expectancy of patients with haemophilia has increased and therefore the interest in age-related comorbidities has grown. The aim of this study was to determine whether haemophilia patients have a different endothelial function compared with the general population. A total of 26 patients with severe or moderate haemophilia A or B, 14 controls and 36 patients with coronary artery disease (CAD) were included in this study.

Significant morphological change in osteoarthritic hips identified over 6-12 months using statistical shape modelling.

Objective: Predicting who will develop osteoarthritis, assessing how rapidly their disease will progress and monitoring early responses to treatment are key to the development of therapeutic agents able to treat this crippling disease and to their future clinical use. Statistical Shape Modelling (SSM) enables quantification of variations in multiple geometric measures describing the whole hip joint to be considered in concert. This prospective study evaluates the responsiveness of SSM to changes in hip-shape within 1 year.

∆Np73beta induces caveolin-1 in human non-small cell lung cancer cell line H1299.

Caveolins have recently attracted attention for their possible involvement in signal transduction. Their role in cancer is debated, being reported both a suppressive and oncogenic role in different experimental conditions. Caveolin-1 is regulated by the tumor suppressor p53 which is able to bind its promoter and activate transcription.

Is gingival bleeding a symptom of patients with type 1 von Willebrand disease? A case-control study.

Background: Von Willebrand disease (VWD) is the most common inherent bleeding disorder resulting in prolonged bleeding time. Gingival bleeding is a frequently reported symptom of VWD. However, gingival bleeding is also known as a leading symptom of plaque-induced gingivitis and untreated periodontal disease.

Rare bleeding disorders are associated with depression and anxiety.

Thrombotic thrombocytopenic purpura (TTP), immune thrombocytopenia (ITP) and acquired haemophilia are very rare haemorrhagic disorders (1) associated with surgery, hospitalization (2) and death being reported (3). Despite the rapid development of interventional techniques, therapeutic options for patients with these illnesses remain limited. We suppose that depression and anxiety disorders appear more frequently than in the normal population in patients with rare haemorrhagic disorders.

Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.

Mutations in the antithrombin (AT) gene can impair the capacity of AT to bind heparin (AT deficiency type IIHBS), its target proteases such as thrombin (type IIRS), or both (type IIPE). Type II AT deficiencies are almost exclusively caused by missense mutations, whereas type I AT deficiency can originate from missense or null mutations. In a retrospective cohort study, we investigated the impact of the type of mutation and type of AT deficiency on the manifestation of thromboembolic events in 377 patients with hereditary AT deficiencies (133 from our own cohort, 244 reported in the literature).

No detection of the retrovirus xenotropic murine leukemia virus-related virus in individuals with hemophilia.

Background: Xenotropic murine leukemia virus-related virus (XMRV) is a retrovirus that has recently been related to prostate cancers and chronic fatigue syndrome. Since other human-pathogenic retroviruses, such as HIV, human T-lymphotropic virus type I (HTLV-I) and -II, are known blood-transmitted pathogens, XMRV might present another hazard associated with products derived from in vitro cultures of human or animal origin, or blood component-based therapeutics. Here, we investigated whether XMRV was transmitted to individuals with hemophilia and frequent exposure to plasma-derived or recombinant clotting factors.

Can we improve the prediction of hip fracture by assessing bone structure using shape and appearance modelling?

Purpose: There is a continuing need to improve the prediction of hip fractures to identify those at highest risk, enabling cost-effective use of preventative therapies.

Methods: The aim of this work was to validate an innovative imaging biomarker for hip fracture by modelling the shape and texture of the proximal femur assessed from dual energy X-ray absorptiometry (DXA) scans. Scans used were acquired at baseline from elderly patients participating in a prospective, placebo-controlled fracture prevention study of the bisphosphonate, clodronate.

[Inhibitor development after changing FVIII/IX products in patients with haemophilia].

Unlabelled: The retrospective observational study surveys the relationship between development of inhibitors in the treatment of haemophilia patients and risk factors such as changing FVIII products. A total of 119 patients were included in this study, 198 changes of FVIII products were evaluated.

Results: During the observation period of 12 months none of the patients developed an inhibitor, which was temporally associated with a change of FVIII products.

[Incidence of thromboembolic events after major operations in patients with haemophilia].

Unlabelled: Thromboembolic complications may occur in patients with major operations even after routine thromboprophylaxis with low-molecular-weight-heparin. In this retrospective, single center survey the post-operative course of patients with haemophilia was investigated.

Patients, Methods: Overall, the postoperative course in 85 patients with haemophilia A and B (median age: 43 years, 18-73 years) and 139 surgical procedures was analyzed.

Patients with isolated prolonged in vitro bleeding time. Clinical symptoms.

Unlabelled: In patients with isolated prolonged in vitro bleeding time there is no standardised treatment concept. With this study we characterized the extent of bleeding symptoms.

Patients, Methods: All diagnoses known to cause prolonged in vitro bleeding time (PFA-100) (epinephrine-cartridge >160 s, ADP-cartridge > 120 s) have been excluded, such as platelet function disorders, effects of medications, nutrition or von Willebrand disease.

[Does FVIII-activity increase with age in patients with haemophilia A and carriers of haemophilia A?].

Unlabelled: The retrospective cohort study surveys the influence of age, co-morbidity and laboratory values on FVIII-activity (FVIII:C) in patients with haemophilia A with (mild n = 48, moderate n = 10, severe n = 7 and carriers n = 23). Median observation was 19 years for patients with haemophilia A and 9,5 years for carriers.

Results: FVIII:C levels collected from patients with mild haemophilia A displayed a significant median increase of 6.