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result(s) for
"Uçar, Özge"
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Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges
by
Türkyılmaz Uçar, Özge
,
Tarrant, Teresa K.
,
Aydoğmus, Çiğdem
in
Abscesses
,
Adenosine
,
Adenosine deaminase
2025
Adenosine deaminase 2 deficiency (DADA-2) is an autoinflammatory syndrome caused by mutations in the
gene. ADA-2 functions as an enzyme in purine metabolism and is presumed to play roles in immune regulation. The clinical spectrum of DADA2varies widely, from vascular inflammation and immune dysregulation to hematological abnormalities, including pure red cell aplasia and hemophagocytic lymphohistiocytosis (HLH). This study aimed to describe the clinical, demographic, and immunological profiles of seven DADA-2 patients to broaden the understanding of its hematological and immunological manifestations and provide insight for early diagnosis and treatment strategies.
Data were collected from patient medical records at the Department of Pediatric Allergy and Clinical Immunology, Basaksehir Cam and Sakura City Hospital. The study included genetic analysis, flow cytometry for lymphocyte subpopulations, and ADA-2 enzyme activity measurement.
Seven patients from five families were included, predominantly male, with an average symptom onset at 15 months. Hematological findings were present in all patients, with neutropenia observed at the initial presentation (100%). HLH developed in two patients, contributing to a higher mortality rate of 42.8%. Bone marrow analysis in affected patients revealed hypocellularity and marked T-cell infiltration, with fibrosis detected in one. Despite no evidence of viral triggers (EBV, CMV, VZV, Parvovirus B19), HLH occurred in two patients, suggesting a primary immune dysregulation. Inflammatory and immunodeficiency-related findings were also observed, suggesting a mixed phenotype as the most common presentation. Genotype-phenotype analysis showed that patients with undetectable ADA2 enzyme activity or loss-of-function mutations had more severe hematological involvement. In contrast, a patient with residual enzyme activity exhibited a mixed phenotype. Three patients underwent successful hematopoietic stem cell transplantation (HSCT), reversing disease manifestations.
Our findings reinforce that DADA2 can initially present as isolated neutropenia, and frequently exhibits a mixed phenotype encompassing hematologic, immunologic, and inflammatory features. HLH is a severe complication that may arise without infectious triggers. Genetic testing for
should be incorporated into diagnostic panels for congenital neutropenia to avoid delays in diagnosis. Genotype-phenotype correlations offer some prognostic insights, but residual enzyme activity may not fully predict disease severity, underscoring the need for individualized management.
Journal Article
Selective IgA deficiency and allergic diseases: Clinical and immunological evaluation
2025
Purpose: We aimed to investigate allergic sensitization and associated factors in pediatric patients with selective immunoglobulin A deficiency (SIgAD) and to evaluate differences between allergic and nonallergic groups. Methods: We analyzed 110 patients (aged 4–18 years) diagnosed with SIgAD at Çam and Sakura City Hospitals, Istanbul, between 2021 and 2024. Their demographic, clinical, and laboratory data were assessed. Results: Allergic sensitization was detected in 62.7% of patients. Patients with allergic sensitization, family history of allergic diseases, eosinophilia, and elevated total immunoglobulin E (IgE) levels were significantly higher (P < 0.05). Immunglobulin M (IgM) levels were higher in the allergic group (P = 0.01), and they had lower neutrophil counts (P = 0.03). Allergic sensitization was lower in patients with autoimmune diseases (P = 0.03). In 60% of the patients, the main reason for presentation was recurrent infection. Conclusion: Allergic sensitization with SIgAD is associated with genetic and immunological factors. A family history of allergic disease, eosinophilia, and elevated total IgE levels are important markers for the development of allergy. These findings highlight the need to closely monitor allergies in people with SIgAD.
Journal Article
Bio-priming Treatment with PGPB Strains in Cowpea Production Increases Grain Yield and Net Income
2024
In the 21st century, the use of beneficial microorganisms as biological fertilizers has become a notable phenomenon, driven by the ongoing search for sustainable solutions due to environmental issues associated with synthetic fertilizer use. This study aimed to investigate the effect of bio-priming with plant growth-promoting bacteria (PGPB) strains comparing them with synthetic fertilizer and rhizobium inoculation in Siirt ecological conditions. The field experiment was laid out according to a completely randomized design with four replications in the arable land of Siirt University (Siirt, Türkiye) during the 2019 summer season. Three synthetic fertilizer doses as diammonium phosphate (SF1: 100 kg ha-1, SF2: 200 kg ha-1, SF3: 300 kg ha-1) and seven biological fertilizer treatments (B1: TV61C, B2: TV62C, B3: TV126C, B4: TV24C, B5: TV53D, BMIX: TV119E+TV126C, RZB: Bradyrhizobium sp.) were compared with control (no fertilization+hydro-priming) in the study. The research results indicated that 300 kg ha-1 DAP and PGPB consortia showed the best results on agronomic characteristics. However, particularly when applied in the form of a consortium, PGPB strains exhibited performance very close to synthetic fertilization. Moreover, it was determined that 300 kg ha-1 DAP and PGPB consortia increased grain yield over hydro-primed plants by 54.6% and 42.4%, while they provided a net income of$654 and $ 721.6, respectively. Thus, bio-priming with PGPB increased higher net income compared with synthetic fertilizer due to lower treatment costs. In conclusion, bio-priming with PGPB strains has the potential of useful, sustainable and cost-effective strategy in cowpea production.
Journal Article
Screening of lentil genotypes during germination and early growth stages under PEG-induced drought stress
by
Erman, Murat
,
Sabagh, Ayman El
,
Ceritoglu, Mustafa
in
Abiotic stress
,
Agricultural production
,
Agricultural research
2024
The objective of this experiment was to determine drought tolerance exhibited by lentil lines developed by the International Center for Agricultural Research in the Dry Areas (ICARDA) in an artificial environment, and to investigate the relationships between traits with various methods. This experiment examined 15 traits of 21 lentil (Lens culinaris Medik.) accessions grown under artificial drought stress created with polyethylene glycol (PEG)-6000 (0%, 10%, 15% and 20%) concentrations during germination and early seedling stages. Germination characteristics, seedling developmental properties and root system architecture traits were investigated to observed the impacts of drought stress. The originality lies in enabling the identification of drought-tolerant and sensitive genotypes through a brief and practical research method, while shedding light on the key traits by principal component analysis. The first two PCs explained 22.9% and 31.7% (total 54.6%) under optimal conditions while they described 14% and 58.3% (total 72.3%) under PEG-induced drought conditions, respectively. Variation in PC1 was mostly contributed by positive coefficients of germination index, uniformity of germination and germination energy, and negative coefficients of mean germination time. Variation in PC2 was mostly contributed by positive coefficients of seedling vigor index, root fresh weight and root dry weight. 'Tigris', G3664 and G3840 exhibited higher performance in terms of germination characteristics, while G3710, G3829 and G3840 produced higher DM accumulation, total biomass and lateral roots. Overall, PC-biplot denoted that selection based on germination index and seedling vigor index at germination and seedling stages would improve drought tolerance. In conclusion, genotypes G3840 and G3664 were identified as drought-tolerant, whereas genotypes G35, G3659, G3759, G3837, and G3844 were classified as drought-sensitive. In addition, G3664, G3840 and G3710 exhibited the highest stress tolerance index (STI) under artificial drought conditions. Key words: Biplot, drought tolerance, Lens culinaris, plant stress, principal component analysis, radar graph.
Journal Article
Exploring the relationship between spiritual care and patient advocacy of nurses from generations X, Y and Z working in intensive care clinics: A cross-sectional study
2024
To determine the relationship between spiritual care and patient advocacy across three generations of nurses working in intensive care units.
Cross-sectional survey.
Data collection took place from July to August 2022 with 120 nurses in Turkey. Data collection tools included the Spiritual Caregiving Competency Scale, the Spirituality and Spiritual Care Assessment Scale, and the Patient Advocacy Scale for Nurses. Data on nurses’ demographics were evaluated using descriptive statistical methods (number, percentage, mean, standard deviation). Independent sample t-test, one-way ANOVA, Pearson correlation, and linear multiple regression analysis were used to evaluate the relationships between variables, with results reported as 95% confidence intervals (CI).
More than half of the nurses were from Generation Y (39.2 %) and Generation Z (42.5 %). Generation Z’s mean patient advocacy score (156.96 ± 23.16) was statistically significantly higher than Generation X’s (139.32 ± 34.26). We determined that the spiritual competence scale communication sub-dimension score of Generation Y nurses working between 1–10 years was higher than that of Generation Z nurses. Additionally, as the patient advocacy scores of all generations increased, so did spiritual competence scores.
The study found differences in patient advocacy and spiritual care competencies between generations. Thus, we recommend organizing courses, seminars, and in-service training on patient advocacy and spiritual care for intensive care nurses.
This study estimates nurses’ spiritual care competencies and patient advocacy levels from different generations and sheds light on the literature to eliminate differences in care between generations in nursing practices that evolve and change over time. It is recommended that courses, seminars, in-service training, spiritual activities, and interactive meetings be organized to encourage the participation of intensive care nurses to minimize the differences in spiritual care and patient advocacy among all generations of intensive care nurses.
Journal Article
Food label reading habits of mothers of children with IgE-mediated food allergy before and after training
by
Halil Celiksoy, Mehmet
,
Turan, Isılay
,
Yildirim, Ilke
in
Adult
,
Allergens
,
Allergens - immunology
2025
Background: One of the most important points in the treatment of food allergies is the avoidance of the culprit allergen. This study aimed to determine whether the training given by a dietitian to mothers of children with IgE-mediated food allergies increased the habit of reading food labels. Methods: Mothers of children with IgE-mediated food allergies were trained on reading food labels by a dietitian. Then, the mothers’ food label reading habits were measured with a questionnaire form at 3-month intervals before and after the training. Results: The study included 56 children with IgE-mediated food allergies and their mothers. Thirty-four (60.7%) of the patients were males. The median age was 10 (min–max = 1–52) months. The most common food allergen was eggs, and this allergy was detected in 31 (55.3%) of the patients. The most common systemic involvement was skin, which was seen in all patients (100.0%). Fifty-six mothers of children with IgE-mediated food allergies participated in the study (Median age: 30 years, min–max = 20–45). There were statistically significant differences between the pre- and post-training groups in terms of the answers to the question “What are the things that affect you the most when buying food?” as “Label information on food packaging,” “Do you look at the product label when purchasing food?” as “yes,” “If your answer is “yes,” “Which food group do you look at?” as “milk and dairy products or eggs and products,” and “What do you pay attention to on food labels?” as “allergen information” (P = 0.001,0.001, 0.001,0.001, and 0.001, respectively). Conclusion: This study concluded that providing training by a dietitian on how to read food labels to mothers of children with IgE-mediated food allergies increases mothers’ awareness of reading the labels.
Journal Article
Characteristics of childhood anaphylaxis in different age groups
2024
Background: Anaphylaxis is a severe systemic hypersensitivity reaction that usually has a rapid onset and can be fatal. Presentations of childhood anaphylaxis vary widely in accordance with the triggers and the patient’s age, geographical region and dietary and lifestyle habits. Methods: The medical records of 177 paediatric patients diagnosed with anaphylaxis between January 2021 and January 2024, whose disease progression was monitored at a single tertiary care centre, were reviewed retrospectively. Results: The study included 177 patients diagnosed with anaphylaxis (107 males and 70 females with a median age of 48 months). The most common allergen responsible was food (53.7%). Egg allergy was the most common source of anaphylaxis, afflicting 35 patients (19.3%), while beta-lactam provoked the most common drug allergy, affecting 24 patients (13.6%). The most common organ involved was the skin (92.7%). When the patients were analysed by age group, there were more males in the infancy, preschool and school age groups, while there were more females in the adolescent group (p = 0.44). Food-induced anaphylaxis became less common with increasing age, whereas the rate of drug-induced anaphylaxis increased (p = 0.01 and p = 0.01, respectively). Cardiovascular system findings were observed more frequently in adolescents compared to other age groups (p = 0.003). Most cases stemming from a food allergy were mild, whereas most drug-induced cases were moderate or severe (p < 0.05). When severity was analysed by age group, mild cases in infants were more common than moderate to severe cases. Conclusion: The aetiological and clinical manifestations of childhood anaphylaxis vary among different age groups.
Journal Article
Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
2026
Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates. Cutaneous manifestations, as well as ocular and hair abnormalities, may provide early and clinically relevant diagnostic clues. This study aimed to assess the prevalence, types, and diagnostic value of cutaneous, ocular and hair manifestations in patients with IEI.
A total of 386 patients with confirmed IEI, classified according to the 2024 IUIS criteria, were retrospectively analyzed. Cutaneous, ocular (e.g., conjunctivitis, keratitis, scleral telangiectasia), and hair manifestations (e.g., alopecia areata, pigmentary abnormalities) were systematically reviewed from medical records. Skin findings were categorized as infectious, immune-allergic (eczema, alopecia areata, urticaria, erythroderma), disease-specific, or other.
Cutaneous, ocular, and/or hair manifestations were identified in 198 patients (51.3%), with 59.1% present at diagnosis. Infectious manifestations were the most common (71.8%), followed by immune-allergic findings (34.8%), including eczema (30.3%), and disease-specific manifestations (17.7%). Ocular findings were observed in 15.7% of patients, while hair abnormalities were present in 4.04%. Skin infections were predominantly bacterial (53.1%) and were most frequent in phagocytic and innate immunity defects. Eczema was most frequent in hyper-IgE syndrome (85.8%), while non-eczematous allergic findings were most common in immune dysregulation. Ocular involvement, including viral retinitis and scleral telangiectasia, and hair abnormalities, such as syndromic hair shaft defects and alopecia areata, were observed across multiple IEI subgroups.
Cutaneous, ocular, and hair abnormalities are frequent in IEI and may support early diagnosis. Recognition of recurrent, atypical, or treatment-resistant skin, eye, or hair findings should prompt immunological evaluation, particularly in pediatric patients.
Journal Article
Effect of Different Blood Groups on the Survival of Intensive Care Patients: Decision Tree Analysis
2025
Background: It is extremely important to determine the factors affecting the prognosis of intensive care patients in individualized patient care approaches. Objectives: To determine the effects of blood group type on the 90-day survival probability of ethnically homogenous Turkish. Methods: A retrospective correlational study was conducted with 3.114 patients treated in the intensive care units of a hospital in Turkey between 2014 and 2019. Data were collected with a patient information form and tested with Frequency and Cox regression analyzes in the R-Project program. In addition, the CHAID algorithm was used to determine the effects of some clinical conditions and blood group characteristics of the patients on mortality. Results: The 90-day survival and secondary complication rates of all patients were 41.8% and 41.6% respectively. Survival probability and secondary complication development risk were low in patients with О Rh(+) blood type who received invasive mechanical ventilation support and underwent a surgical intervention (p<0.05). Survival probability was the lowest in patients with A(+), A(-), AB(-), B(+) and 0(+) blood types who did not undergo a surgical intervention and did not receive invasive mechanical ventilation support (36.8%). Survival probability was found to be the highest in patients with 0(-), B(-) and AB(+) blood types who did not undergo a surgical intervention but received invasive mechanical ventilation support (46.3%). Conclusion: Blood group type is a risk factor that affects the probability of survival in relation to the clinical condition of the patients.
Journal Article
Left Atrial Coupling Index Predicts Heart Failure in Patients with End Stage Renal Disease
2024
Background and Objectives: We aimed to ascertain the predictive power of the left atrial coupling index (LACI) in patients with end stage renal disease (ESRD) for heart failure with preserved ejection fraction (HFpEF). Materials and Methods: This is a retrospective study including 100 subjects between 18 and 65 years of age with ESRD and not on dialysis treatment. Patients were divided into groups with and without HFpEF. The LACI was defined as the ratio of the left atrial volume index (LAVI) to the a′ wave in tissue Doppler imaging (TDI). Statistical analyses were performed, including univariate and multivariate regression analyses. Results: The mean age of the participants was 47 ± 13.3 years. Individuals with HFpEF exhibited a higher LACI. Univariate and multivariate regression analyses demonstrated that the predictive capacity of the LACI for HFpEF was considerably higher than that of the LAVI and other echocardiographic parameters. Conclusions: Higher LACI levels were consistently related to the presence of HFpEF in ESRD patients. The LACI can be easily obtained in daily practice using conventional Doppler echocardiographic measurements during left atrial functional assessments.
Journal Article