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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature research, there are no studies on transcription factor and cytokine expressions of helper T cell subsets in ICF syndrome. In the study; Th1 (TBET, STAT1, STAT4), Th2 (GATA3, STAT6), Th17 (RORgt, STAT3), Treg (FoxP3, STAT5) transcription factors and the major cytokines of these cells (Th1; IFNG, Th2; IL4, Th17; IL17A-21-22, Treg; IL10, TGFβ) expressions were aimed to be evaluated by qRT-PCR. Patients (ICF3: three patients; ICF2: two patients), six heterozygous individual and five healthy controls were included in the study. All patients had hypogammaglobulinemia. Except for the CD19 cells of P2 from patients diagnosed with ICF3, the CD3, CD4, CD8, and CD19 cells in the other ICF3 patients were normal. However, the rates of these cells were low in patients with ICF2 syndrome. Factors belonging to patients’ Th1, Th17 and Treg cells were significantly lower than the control. Additionally, novel mutation was detected in ZBTB24 gene (c.1121–2 A > T). Our study is the first molecular study on Th cell subsets in patients with ICF syndrome and a new mutation that causes ICF2 syndrome has been identified. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study is to evaluate the levels of kallistatin in the plasma of children diagnosed with bronchitis and to compare them with healthy control subjects. Material and Methods: A total of 89 participants, including 16 patients diagnosed with bronchitis and taking medication with the diagnosis of tonsillitis (BT), 26 patients diagnosed with bronchitis only (B), and 47 healthy controls who attended the same outpatient clinic for routine control, were included in the study. Results: When we looked at the differences by dividing the patient group into 2 groups (B, BT), we found that the kallistatin levels in the BT group were significantly higher than both the B group and the healthy control groups. There was no significant difference in kallistatin levels between the healthy controls and the B group. We found that the AUC for kallistatin was 0.631 in the ROC analysis performed between the patient (B+BT) and control groups. Conclusion: Kallistatin levels were significantly higher in the patient group than in the control group. More comprehensive studies with repeated kallistatin measurements are needed to understand whether kallistatin levels are important in the diagnosis and management of patients with bronchitis and to confirm our findings. [ABSTRACT FROM AUTHOR]

Objective: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the virus responsible for Coronavirus Disease 2019 (COVID-19), elicits a strong immune response similar to that seen in other viral infections. The predominant cell type in this immune response also influences the disease prognosis. This study, conducted between 2022 and May 2023, aimed to evaluate the transcription factors and cytokine expressions of Th (helper T) cell subsets at the time of diagnosis and after discharge in patients with nonsevere COVID-19. Materials and Methods: Forty-eight patients with non-severe COVID-19 were included in the study. Transcription factor and cytokine expressions of Th cell subsets were evaluated using the quantitative polymerase chain reaction (qPCR) method, and the results were compared at the time of diagnosis and after discharge. Results: It was determined that the cytokines and transcription factors of T helper 1 (Th1) cells (T-box expressed in T cells [T-bet], 2.71-fold, p<0.001; Interferon-gamma [IFN-γ], 1.42- fold, p=0.010) and T helper 17 (Th17) cells (RAR-related orphan receptor gamma [RORγt], 1.06-fold, p=0.946; Interleukin-22 [IL-22], 1.01-fold, p=0.599) decreased, whereas the expression of T helper 2 (Th2) cells (GATA binding protein 3 [GATA3], 2.56-fold, p<0.001; Interleukin-4 [IL-4], 1.34-fold, p=0.012; Interleukin-5 [IL-5], 1.02-fold, p=0.649; Interleukin-13 [IL-13], 2.06-fold, p=0.0119) and regulatory T (Treg) cells (Forkhead box P3 [FoxP3], 3.56-fold, p<0.001; Transforming growth factor-beta [TGF-β], 1.03-fold, p=0.670; Interleukin-10 [IL-10], 1.40-fold, p=0.010) increased. Conclusion: Our study in non-severe COVID-19 patients demonstrated significant changes in the transcription factor and cytokine expressions of Th cell subsets at the time of diagnosis compared to discharge. We think that even if the patients do not exhibit severe clinical and laboratory findings, Th cell immune responses may be strong, warranting careful consideration. [ABSTRACT FROM AUTHOR]

Hippomarathrum scabrum L. is an endemic medicinal plant in Turkey; however, there have been few studies investigating the phytochemistry and biological properties of these plants has not been investigated. The aim of this work is to determine the chemical composition of different extracts (extracts obtained by using supercritical carbon dioxide extraction, accelerated solvent extraction, homogenizer‐assisted extraction, microwave‐assisted extraction, and ultrasound‐assisted extraction from Hippomarathrum scabrum L., and evaluate their biological properties. The analysis revealed that 5‐O‐caffeoylquinic acid, rutin, and isorhamnetin 3‐O‐rutinoside were the main bioactive compounds. The extract obtained by accelerated extraction contains the highest concentration of 5‐O‐Caffeoylquinic acid (7616.74 ± 63.09 mg/kg dry extract) followed by the extract obtained by homogenizer‐assisted extraction (6682.53 ± 13.04 mg/kg dry extract). In antioxidant tests, all extracts expressed significant antioxidant activity. Also, cytotoxic and anticancer effects of these plant extracts were detected in the human prostate cancer cell line. Intrinsic apoptotic genes were up‐regulated and anti‐apoptotic genes were down‐regulated in human prostate cancer cells after inhibition concentration dose treatment. The findings are promising, and suggest the use of these plant extracts could be used as natural sources with different biological activities, as well as anticancer agents. [ABSTRACT FROM AUTHOR]

Background: Diffusion magnetic resonance imaging (dMRI) is a non‐invasive technique for exploring white matter fiber organization of the brain. As traditional diffusion tensor imaging (DTI) methods may provide inaccurate descriptions of local crossing and diverging fibers, we examined generalized q‐sampling imaging (GQI), a novel method providing better directional and quantitative information using dMRI data from community‐dwelling older adults. Method: We examined baseline dMRI data from 227 adults aged 71±8 on average from the Wake Forest Alzheimer's Disease Research Center's Clinical Core, who had baseline and year‐1 follow‐up global Clinical Dementia Rating (CDR) score of 0 (indicates normal cognitive function) and 0.5 (akin to MCI). The primary outcome measure was cognitive migration status determined by CDR increase/decrease between baseline and follow‐up (mean difference = 13.9 months), shown in Figure. We performed atlas‐based fiber tracking analysis using GQ in DSI Studio to generate normalized quantitative anisotropy (NQA), DTI fractional anisotropy (DTI_FA) and restricted diffusion (RDI) measures in several AD‐related white matter (WM) tracts: Corpus Callosum (CC), Fornix, Cingulum bundle/Parahippocampal tracts (see Table 2: CFP; CP; CPP), Uncinate Fasciculus (UF), Superior Longitudinal Fasciculus (SLF) and Inferior Fronto‐Occipital Fasciculus (IFOF). We performed multinomial logistic regression (MLR) models adjusted for age, sex, and education, using cognitive migration status as the outcome and standardized GQI‐based diffusion indices sNQA, sRDI, and sDTI_FA as predictors. Result: Table 1 lists the baseline demographics and biomarker characteristics for cognitive migration groups. MLR results in Table 2 show significant associations between diffusion indices and tracts for outcome 4 (Reversion) in reference to outcome 1 (stability of normal cognition). Decrease in sNQA in bilateral CP and right Fornix was significantly associated with higher odds of Reversion relative to the reference. Increase in sDTI_FA in left IFOF was associated with higher odds of reversion relative to reference. Decrease in sRDI in bilateral CFP, CPP, Fornix and UF and right CP was associated with higher reversion relative to reference. Conclusion: In early trajectories of cognitive impairment, RDI may be a sensitive diffusion marker for cognitive reversion in several AD‐related WM tracts. Future work will validate these markers in other cognitive migration groups (negative migration and MCI stability). [ABSTRACT FROM AUTHOR]

Background: A substantial number of patients clinically diagnosed with Alzheimer's disease do not harbor amyloid pathology. We analyzed the presence and extent of tau deposition and neurodegeneration in amyloid-positive (AD) and amyloid-negative (nonAD) ADNI subjects while also taking into account age of onset (< or > 65 years) as we expected that the emerging patterns could vary by age and presence or absence of brain amyloidosis. Methods: One hundred and ten early-onset AD (EOAD), 121 EOnonAD, 364 late-onset AD (LOAD), and 175 LOnonAD mild cognitive impairment (MCI) and dementia (DEM) subjects were compared to 291 ADNI amyloid-negative control subjects using voxel-wise regression in SPM12 with cluster-level family-wise error correction at pFWE < 0.05). A subset of these subjects also received 18F-flortaucipir scans and allowed for analysis of global tau burden. Results: As expected, relative to LOAD, EOAD subjects showed more extensive neurodegeneration and tau deposition in AD-relevant regions. EOnonADMCI showed no significant neurodegeneration, while EOnonADDEM showed bilateral medial and lateral temporal, and temporoparietal hypometabolism. LOnonADMCI and LOnonADDEM showed diffuse brain atrophy and a fronto-temporo-parietal hypometabolic pattern. LOnonAD and EOnonAD subjects failed to show significant tau binding. Conclusions: LOnonAD subjects show a fronto-temporal neurodegenerative pattern in the absence of tau binding, which may represent underlying hippocampal sclerosis with TDP-43, also known as limbic-predominant age-related TDP-43 encephalopathy (LATE). The hypometabolic pattern observed in EOnonADDEM seems similar to the one observed in EOADMCI. Further investigation into the underlying etiology of EOnonAD is warranted. [ABSTRACT FROM AUTHOR]