bluuebunny/crossref_metadata_2025_split huggingface dataset:
De Novo Intron 22 Inversion Carrier Detection—The Emerging Value of Genetic Analysis in a Developing Country
Authors: Kloppers Jean F. , du Plessis Jan , Janse van Rensburg Walter 
Published: September 2023

Genetic analysis of the F8 gene can play a vital role in the diagnosis and management of people with hemophilia A (PWH). Knowing the causative mutation can assist treating clinicians in predicting the risk of inhibitor formation and a person’s response to treatment. It is also a vital tool for genetic counselors in assisting PWH with family planning. Mutational analysis has been limited in developing countries, mainly due to resource constraints; however, with the development of more cost-effective screening tools, these assays are becoming more common in developing countries. Unfortunately, the clinical utility of these assays remain unclear in some of these underresourced countries, resulting in a lack of clinician buy-in. We aimed to highlight the wide-ranging impact mutational analysis potentially has on PWH and their extended families in a developing country. We used a gel-based in-house method to determine the inversion 22 (Inv22) mutation in a family where a young boy, without a family history, was recently diagnosed with hemophilia A. Inv22 was detected in the proband and his mother, but not in any other direct family member. Therefore, we concluded that the mutation was a de novo mutation in the mother. Subsequently, this result has bearing on at least 23 direct blood-relatives. Genetic screening extends far wider than the treatment of PWH and is vital in the management of PWH and their extended families. With the availability of cost-effective genetic screening assays this should also be the case in developing countries.
The Impact of Glucose-6-Phosphate Dehydrogenase Deficiency on the Frequency of Vasoocclusive Crisis in Patients with Sickle Cell Anemia
Authors: Nnamezie Igwilo Hilary , Salawu Lateef , Adeoye Adedeji Tewogbade 
Published: September 2023

Background and Objectives Sickle cell anemia (SCA) and glucose-6-phosphate dehydrogenase (G6PD) deficiency are both hereditary diseases of the red blood cells that cause hemolysis. The impact of the interaction of both conditions on the clinical and laboratory presentations of the affected persons is sparse. This study, therefore, correlated G6PD activity with disease severity in persons with SCA by comparing disease severity in G6PD-deficient SCA persons with those with normal G6PD activity. Methodology This cross-sectional study was conducted in the department of Haematology and Blood Transfusion of the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria. G6PD activity, SCA disease severity, and hematological parameters including reticulocyte counts and Heinz body estimation, bilirubin, and aspartate transaminase were estimated in 67 SCA persons. The results were compared between SCA persons with G6PD deficiency and those with normal enzyme activity. Results The prevalence of G6PD deficiency was found to be 23.9%. The G6PD-deficient SCA patients included 4 (25.0%) males and 12 (75.0%) females. G6PD deficiency was significantly higher in females ( P = .047). There was no significant difference in disease severity scores between G6PD-deficient and G6PD-nondeficient SCA patients. However, G6PD-deficient persons reported significantly higher episodes of severe vasoocclusive crisis (VOC) per annum ( P = .048). The hematological and biochemical parameters were similar between G6PD-deficient and G6PD normal SCA persons except that the G6PD-deficient SCA persons have significantly higher reticulocyte response ( P = .001). There was no correlation between disease severity resulting from reduced G6PD activity and Heinz body formation in SCA persons in the steady state. Conclusion G6PD deficiency significantly contributes to recurrent painful vasoocclusive crisis in SCA persons in the steady state.
Experience of Daratumumab in Six Patients With Multiple Myeloma and Kidney Failure
Authors: Turgutkaya Atakan , Bolaman Ali Zahit , Yavaşoğlu İrfan 
Published: September 2023

Purpose Daratumumab, a monoclonal anti-CD38 antibody, has been administered for relapsed refractory multiple myeloma (RRMM). The Pollux and Castor trials proved its efficacy, yet excluded patients with advanced-stage renal disease. Therefore, available experience in these patients is limited. Here, we aimed to emphasize the safety of daratumumab in 6 patients with kidney disease. Methods Six patients with RRMM diagnoses and renal impairment were included. Their mean ± standard deviation age was 63.6 ± 8.38 years. Three, two, and one patient(s) had immunoglobulin (Ig) G kappa, lambda light chain, and IgA lambda MM, respectively. All patients received 4 to 6 lines of anti-MM therapy before daratumumab treatment. Five had chronic kidney disease and 1 was admitted to the hospital with acute kidney injury due to myeloma relapse. Daratumumab was administered to all patients with close follow-up. Results Following treatment with daratumumab, kidney function was improved in 1 patient. In 1 patient, the glomerular filtration rate was slightly decreased and hemodialysis was initiated. In 2 patients already receiving hemodialysis, their dependency on hemodialysis continued. No adverse reactions were recorded. One patient achieved complete remission and 4 patients achieved very good partial remission. Conclusion Daratumumab can be administered safely, with improvements in kidney function possible in some patients. Studies involving larger patient groups are required to obtain more accurate data.
Quality Attributes of Plasma Derived Human Fibrinogen (Fibrogen-I®)
Authors: Dolia Sheetal , Verma Sachin , Pawar Amit , Ray Suma 
Published: September 2023

BACKGROUND Fibrinogen is an important component of hemostasis and clot formation. Replacement therapy with a human Fibrinogen concentrate is the preferred therapeutic option for patients with congenital or acquired Fibrinogen insufficiency. To make the Fibrinogen available for treatment of such patients, Fibrogen-I®, a lyophilized product purified from pooled human plasma was developed and extensively characterized. The product quality attributes were assessed by different biochemical, functional and structural analytical methods. MATERIAL AND METHODS Functional activity of Fibrinogen in the Fibrogen-I® was demonstrated by determination of its clottable protein activity. Purity profiling of Fibrogen-I® was evaluated by SE-HPLC method. Activation and fibrinolysis markers like D-dimer, plasminogen was determined by automated coagulometer and fibrinopeptide A activity by ELISA. Far UV CD analysis was also performed by CD Spectrometer. RESULTS The product exhibited high purity 89.7% by SE-HPLC. Activation and Fibrinolysis marker proteins in the drug product were negligible. The high purity and integrity of Fibrogen-I® is underlined by the ratio of Fibrinogen activity by Clauss/clottable protein with mean calculated value of 0.9 which is in close proximity with theoretical value 1 indicating fully native Fibrinogen. The results of far-UV CD spectroscopy revealed that Fibrogen-I® exists mostly as a β-sheet secondary structure, which is in accordance with the three-dimensional structure of human Fibrinogen. Downscaling experiments for the two dedicated orthogonal pathogen inactivation steps, ie solvent detergent treatment and dry heat treatment, exhibited pathogen safety. DISCUSSION Fibrogen-I® exhibited specific functional activity, desirable quality attributes, pathogen safety and the ability to be made available to patients requiring fast and effective Fibrinogen replacement.
Retrospective Analysis of a New Antigen Assay to Detect Anti-Transglutaminase Antibodies for Diagnosis and Monitoring of Celiac Disease
Authors: Verbeke Sandra , Canals Andrea 
Published: September 2023

BACKGROUND The improved diagnosis and monitoring of celiac disease (CD) requires increasingly sensitive and specific serological markers. The development of new antigens ( neo-epitopes) able to detect different sets of anti-transglutaminase antibodies requires studies to demonstrate their advantages. OBJECTIVE The goal of this study was to evaluate a new antigen for the detection of anti-tTG antibodies that combines tissue transglutaminase (tTG) and gliadin peptides. This protein complex occurs under physiological conditions in vivo at the time of deamination. PATIENTS AND METHODS In this retrospective study, serum samples collected from patients from January to December 2018 were analyzed. Results of the determinations for neo-epitope anti-tTG antibodies (manufacturer's cut-off values: negative <12 U/mL, indeterminate 12-18 U/mL; positive >18 U/mL) were recorded along with age, sex, and duodenal biopsy results. Neo-epitope assay results were correlated with clinical and laboratory data and final CD diagnoses, using the manufacturer's cut-off value and a proposed alternate cut-off value. RESULTS A total of 3820 neo-epitope anti-tTg determinations were analyzed. The percentage of values in the indeterminate zone was low (3.6%), with very few values (0.9%) at the exact manufacturer's cut-off limit (18 U/mL). This indicated a good resolution capacity for positives and negatives. The percentage of false positives was lower compared to a previous study (2013 study: 3.6%, vs current study (2018): 0.5%). A new positivity cut-off value was proposed: 20 U/mL, which increased the positive predictive value of the test. CONCLUSIONS The neo-epitope assay is a more precise tool than recombinant human transglutaminase assay for the diagnosis and monitoring of celiac patients. It has a greater ability to resolve positive and negative results (“minimum indeterminate area”). Its greater sensitivity could detect situations (presentation and/or dietary transgression) where conventional techniques show negative or weakly positive serology.
Characterization of the Components and Functional Properties of a Plasma-Derived Fibrin Sealant
Authors: Ramaiola Ilaria , Lopez Laura , Moron Manuel , Maduell Pau , López Maite , Marzo Nuria , Grancha Salvador 
Published: September 2023

Background The activity and purity of Fibrin Sealant Grifols are described in this article. This fibrin sealant contains two components (fibrinogen and thrombin) that mimic the final stages of clotting. Fibrin sealants are primarily used as an adjunct to hemostasis for mild to moderate surgical bleeding in adults when standard surgical techniques are ineffective or impractical. Objective The aim of these studies was to assess the biochemical and functional characteristics of Fibrin Sealant Grifols. Methods Total protein, plasma protein impurities, and molecular forms were analyzed for both components. Clottable fibrinogen and thrombin activity were also measured. Both components were analyzed by SDS-PAGE and Western blot. The fibrin sealant clot was functionally characterized. Results The components had minimal contamination by other plasma proteins and no aggregates or degradation products. The fibrinogen component was almost completely clottable fibrinogen. The thrombin component contains albumin. The fibrinogen component formed a fibrin polymer and clots with tensile strength similar to literature values. The application device applied the components in a 1:1 volume ratio. Clotting time was ∼ 5 s when applied with the drip tip and nearly instantaneous when applied with the airless spray apparatus. Conclusion This fibrin sealant was shown to contain highly purified fibrinogen and thrombin delivered in a 1:1 volume ratio. These properties contribute to the clinical safety and efficacy of this product for many applications.
Lipid Profile, Nutritional Status and Severity Biomarkers in Adults With Sickle Cell Anemia
Authors: Pereira Gomes Ingrid Cristiane , Costa Machado Teles João Pedro , Sousa Coelho Anny Catarina , Passos Cruz Maria Carollyne , Costa de Albuquerque Lindemberg , Carvalho Mariana Amaral , Castro dos Santos Paulo Herlan , Nolasco dos Santos Sérgio , Cipolotti Rosana 
Published: September 2023

BACKGROUND Lipid alterations have been described in sickle cell anemia (SCA), but their association with the disease severity is not fully understood and their correlation with the nutritional status of this population has not been widely studied. OBJECTIVES This study aimed to assess the lipid profile and its relation with the nutritional status, including anthropometric characteristics and daily macronutrient intake, and with the severity biomarkers in adults with SCA in a steady state. DESIGN Cross-sectional study METHODS This was an analytical cross-sectional study with 55 adults with SCA and 60 members of the control group. Sociodemographic, anthropometric, nutritional, and laboratory data were collected between March 2019 and June 2020. Mann–Whitney test was used to compare groups and Spearman's correlation coefficient was used to test the relation between variables. RESULTS The SCA group presented higher calorie, protein, and carbohydrate intake, lower levels of high-density lipoprotein-cholesterol (HDL-c), and a higher triglyceride (TG)/HDL-c ratio than the control. HDL-c showed a positive correlation with hemoglobin and hematocrit (HcT) and a negative correlation with indirect bilirubin and lactate dehydrogenase (LDH). The TG/HDL-c ratio was positively linked with reticulocyte count, LDH, and leukocyte count and negatively linked with Hb. CONCLUSIONS The study findings showed hypocholesterolemia in SCA and its independent correlation with macronutrient intake. The links of HDL-c and TG/HDL-c ratio with hemolysis indices indicate that they are easily accessible, low-cost markers capable of predicting SCA severity.
Adaptation of an In-Person Mind-Body Movement Program for People with Cognitive Impairment or Dementia and Care Partners for Online Delivery: Feasibility, Satisfaction and Participant-Reported Outcomes
Authors: Nicosia Francesca M. , Lee Jennifer A. , Chesney Margaret A. , Benjamin Cynthia , Lee Amanda N. , Mehling Wolf , Sudore Rebecca L. , Barnes Deborah E. 
Published: September 2023

Background Preventing Loss of Independence through Exercise (PLIÉ) is an in-person group mind-body movement program for people across the spectrum of cognitive decline and care partners (CPs). Objective This study developed and refined an online version called Moving Together and tested feasibility and satisfaction with an online delivery. Methods In Phase 1, we used qualitative methods to determine which elements of the in-person program were essential to retain for the online version and adaptations that would be needed to support the user experience. In Phase 2, we created a prototype of the online program and iteratively refined it based on user feedback. In Phase 3, we assessed feasibility of online delivery based on class attendance and program completion; we assessed satisfaction and participant-reported outcomes using a post-program evaluation survey with quantitative and qualitative components. Results Phase 1 findings from 27 participants (14 PLWD, 13 CPs) revealed three key considerations related to online delivery of PLIÉ: technology use, social connection as a primary motivator, and physical safety concerns. Phase 2 iterative testing among 25 participants (14 PLWD, 11 CPs) resulted in key refinements to program delivery and instructional elements; Phase 3 pilot testing included 39 participants (12 PLWD, 15 CPs, 12 MCI) who attended 75 ± 29% of 24 classes; 77% completed the 12-week program, of whom 96% rated it as excellent or good. Participant-reported outcomes included improvements in social connection, emotional well-being, physical function, cognitive function and present-centered body awareness. PLWD or MCI also reported improvements in self-concept, and CPs reported improvements in caregiving self-efficacy. The primary challenges were related to participant navigation of technology. Conclusion The Moving Together online program is feasible for PLWD or MCI and CPs with participants reporting high satisfaction and positive outcomes across multiple domains. Providing individual technology support is critical for the success of livestreamed, online interventions for dementia.
Multi-omics insights into the positive role of strigolactone perception in barley drought response
Authors: Daszkowska-Golec Agata , Mehta Devang , Uhrig R. Glen , Brąszewska Agnieszka , Novak Ondrej , Fontana Irene M. , Melzer Michael , Płociniczak Tomasz , Marzec Marek 
Published: September 2023

Abstract
Background
Drought is a major environmental stress that affects crop productivity worldwide. Although previous research demonstrated links between strigolactones (SLs) and drought, here we used barley (Hordeum vulgare) SL-insensitive mutant hvd14 (dwarf14) to scrutinize the SL-dependent mechanisms associated with water deficit response.

Results
We have employed a combination of transcriptomics, proteomics, phytohormonomics analyses, and physiological data to unravel differences between wild-type and hvd14 plants under drought. Our research revealed that drought sensitivity of hvd14 is related to weaker induction of abscisic acid-responsive genes/proteins, lower jasmonic acid content, higher reactive oxygen species content, and lower wax biosynthetic and deposition mechanisms than wild-type plants. In addition, we identified a set of transcription factors (TFs) that are exclusively drought-induced in the wild-type barley.

Conclusions
Critically, we resolved a comprehensive series of interactions between the drought-induced barley transcriptome and proteome responses, allowing us to understand the profound effects of SLs in alleviating water-limiting conditions. Several new avenues have opened for developing barley more resilient to drought through the information provided. Moreover, our study contributes to a better understanding of the complex interplay between genes, proteins, and hormones in response to drought, and underscores the importance of a multidisciplinary approach to studying plant stress response mechanisms.
Effect of intravenous dexamethasone on the duration of hyperbaric bupivacaine spinal anesthesia in lower abdominal surgery, Randomized controlled trial
Authors: Abdel-Wahab Amani H. , Abd Alla Essam S. , Abd El-Azeem Taghreed 
Published: September 2023

Abstract
Background
The purpose of this study was to investigate the effect of intravenous (IV) dexamethasone on the duration of hyperbaric bupivacaine spinal anesthesia.

Methods
Two hundred patients between the ages of 18 and 60, of both sexes with ASA I- II classification scheduled for lower abdominal surgery under spinal anesthesia using hyperbaric bupivacaine 0.5% were randomly divided into two groups: the dexamethasone group (Dexa group) and the control group, with 100 patients in each group. Before the administration of spinal anesthesia, the Dexa group received an intravenous infusion of 8 mg dexamethasone in 500 mL normal saline, while the control group received 500 mL normal saline only. The primary outcome of this study was to assess the effect of IV dexamethasone on the regression of hyperbaric bupivacaine spinal anesthesia. Secondary outcome measures included the total duration of sensory and motor blocks, VAS score, time of first analgesic request, total analgesic consumption within the first 24 h, and the occurrence of any side effects.

Results
The Dexa group had significantly delayed onset of 2 dermatomes regression (P < 0.001) compared to the control group. Additionally, the Dexa group had significantly longer duration of both sensory block (P = 0.01) and motor block (P < 0.001). The Dexa group had significantly longer duration until the first postoperative analgesic request (P < 0.001) and a lower incidence of side effects compared to the control group.

Conclusion
Although the intravenous administration of dexamethasone had a limited effect on the duration of hyperbaric bupivacaine spinal anesthesia, it improved postoperative VAS scores compared to the control group and decreased overall postoperative analgesic consumption. Therefore, it can be considered a valuable addition to postoperative multimodal analgesia strategies, aiming to minimize total analgesic consumption.

Clinical trial registration
ID: NCT04778189 (2/3/2021).
The value of fever assessment in addition to the Early Detection Infection Scale (EDIS). A validation study in nursing home residents in Sweden
Authors: Tingström Pia , Karlsson Nadine , Grodzinsky Ewa , Sund Levander Märta 
Published: September 2023

Abstract
Background
In order to improve detection of suspected infections in frail elderly there is an urgent need for development of decision support tools, that can be used in the daily work of all healthcare professionals for assessing non-specific and specific changes. The aim was to study non-specific signs and symptoms and fever temperature for early detection of ongoing infection in frail elderly, and how these correlates to provide the instrument, the Early Detection Infection Scale (EDIS), which is used to assess changes in health condition in frail elderly.

Methods
This was an explorative, prospective cohort study, including 45 nursing home residents, 76 to 99 years, in Sweden. Nursing assistants measured morning ear body temperature twice a week and used the EDIS to assess individual health condition daily for six months. The outcome comprised events of suspected infection, compiled from nursing and medical patient records. Factor analysis and multivariate logistic regression analysis were performed to analyse data.

Results
Fifteen residents were diagnosed with at least one infection during the six-month follow-up and 189 observations related to 72 events of suspected infection were recorded. The first factor analysis revealed that the components, change in cognitive and physical function, general signs and symptoms of illness, increased tenderness, change in eye expression and food intake and change in emotions explained 61% of the variance. The second factor analysis, adding temperature assessed as fever to > 1.0 °C from individual normal, resulted in change in physical function and food intake, confusion and signs and symptoms from respiratory and urinary tract, general signs and symptoms of illness and fever and increased tenderness, explaining 59% of the variance. In the first regression analysis, increased tenderness and change in eye expression and food intake, and in the second change in physical function and food intake, general signs and symptoms of illness and fever (> 1.0 °C from individual normal) and increased tenderness were significantly associated with increased risk for ongoing infection.

Conclusion
No items in the EDIS should be removed at present, and assessment of fever as > 1.0 °C from individual normal is a valuable addition. The EDIS has the potential to make it easier for first line caregivers to systematically assess changes in health condition in fragile elderly people and helps observations to be communicated in a standardised way throughout the care process. The EDIS thus contributes to ensuring that the decisions not being taken at the wrong level of care.