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Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown. Mutations were identified by whole exome sequencing. T-cell immunophenotyping, proliferation, migration, cytokine signaling, survival, and NK cell cytotoxicity were studied via flow cytometry-based assays, confocal microscopy, and real-time qPCR. CD4+ T cell proteome was analyzed by mass spectrometry. p.R351* and p.R322*variants led to a significant reduction in the DIAPH1 mRNA and protein levels. DIAPH1-deficient T cells showed proliferation, activation, as well as TCR-mediated signaling defects. DIAPH1-deficient PBMCs also displayed impaired transwell migration, defective STAT5 phosphorylation in response to IL-2, IL-7 and IL-15. In vitro generation/expansion of Treg cells from naïve T cells was significantly reduced. shRNA-mediated silencing of DIAPH1 in Jurkat cells reduced DIAPH1 protein level and inhibited T cell proliferation and IL-2/STAT5 axis. Additionally, NK cells from patients had diminished cytotoxic activity, function and IL-2/STAT5 axis. Lastly, DIAPH1-deficient patients' peripheral blood contained dramatically reduced numbers of all helper ILC subsets. DIAPH1 deficiency results in major functional defects in T, NK cells and helper ILCs underlining the critical role of formin DIAPH1 in the biology of those cell subsets.
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Forminas , Células Asesinas Naturales , Humanos , Forminas/genética , Células Asesinas Naturales/inmunología , Células Asesinas Naturales/metabolismo , Masculino , Células Jurkat , Femenino , Mutación , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Adaptadoras Transductoras de Señales/deficiencia , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Niño , Inmunidad Innata , Preescolar , Citocinas/metabolismo , Transducción de Señal , Inmunofenotipificación , Linfocitos T/inmunología , Linfocitos T/metabolismoRESUMEN
We aimed to determine the value of standalone and supplemental automated breast ultrasound (ABUS) in detecting cancers in an opportunistic screening setting with digital breast tomosynthesis (DBT) and compare this combined screening method to DBT and ABUS alone in women older than 39 years with BI-RADS B-D density categories. In this prospective opportunistic screening study, 3466 women aged 39 or older with BI-RADS B-D density categories and with a mean age of 50 were included. The screening protocol consisted of DBT mediolateral-oblique views, 2D craniocaudal views, and ABUS with three projections for both breasts. ABUS was evaluated blinded to mammography findings. Statistical analysis evaluated diagnostic performance for DBT, ABUS, and combined workflows. Twenty-nine cancers were screen-detected. ABUS and DBT exhibited the same cancer detection rates (CDR) at 7.5/1000 whereas DBT + ABUS showed 8.4/1000, with ABUS contributing an additional CDR of 0.9/1000. Standalone ABUS outperformed DBT in detecting 12.5% more invasive cancers. DBT displayed better accuracy (95%) compared to ABUS (88%) and combined approach (86%). Sensitivities for DBT and ABUS were the same (84%), with DBT + ABUS showing a higher rate (94%). DBT outperformed ABUS in specificity (95% vs. 88%). DBT + ABUS exhibited a higher recall rate (14.89%) compared to ABUS (12.38%) and DBT (6.03%) (p < .001). Standalone ABUS detected more invasive cancers compared to DBT, with a higher recall rate. The combined approach showed a higher CDR by detecting one additional cancer per thousand.
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Neoplasias de la Mama , Detección Precoz del Cáncer , Mamografía , Ultrasonografía Mamaria , Humanos , Femenino , Neoplasias de la Mama/diagnóstico por imagen , Persona de Mediana Edad , Ultrasonografía Mamaria/métodos , Adulto , Mamografía/métodos , Estudios Prospectivos , Detección Precoz del Cáncer/métodos , Anciano , Mama/diagnóstico por imagen , Mama/patología , Tamizaje Masivo/métodosRESUMEN
BACKGROUND: Continuous kidney replacement therapy (CKRT) has recently become the preferred kidney replacement modality for children with acute kidney injury (AKI). We hypothesise that CKRT technical parameters and treatment settings in addition to the clinical characteristics of patients may influence the circuit lifetime in children. METHODS: The study involved children included in the EurAKId registry (NCT02960867), who underwent CKRT treatment. We analysed patient characteristics and CKRT parameters. The primary end point was mean circuit lifetime (MCL). Secondary end points were number of elective circuit changes and occurrence of dialysis-related complications. RESULTS: The analysis was composed of 247 children who underwent 37,562 h of CKRT (median 78, IQR 37-165 h per patient). A total of 1357 circuits were utilised (3, IQR 2-6 per patient). MCL was longer in regional citrate anticoagulation (RCA), compared to heparin (HA) and no anticoagulation (NA) (42, IQR 32-58 h; 24, IQR 14-34 h; 18, IQR 12-24 h, respectively, p < 0.001). RCA was associated with longer MCL regardless of the patient's age or dialyser surface. In multivariate analysis, MCL correlated with dialyser surface area (beta = 0.14, p = 0.016), left internal jugular vein vascular access site (beta = -0.37, p = 0.027), and the use of HA (beta = -0.14, p = 0.038) or NA (beta = -0.37, p < 0.001) vs. RCA. RCA was associated with the highest ratio of elective circuit changes and the lowest incidence of complications. CONCLUSION: Anticoagulation modality, dialyser surface, and vascular access site influence MCL. RCA should be considered when choosing first-line anticoagulation for CKRT in children. Further efforts should focus on developing guidelines and clinical practice recommendations for paediatric CKRT.
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Background The pathological response rate in operable breast cancer (BC) patients receiving neoadjuvant chemotherapy (NAC) is postulated to be related to body composition. The success of complete pathological response (pCR) is a known prognostic factor in BC patients treated with NAC. We aimed to accurately measure body composition through BMI and skeletal muscle mass and observe their effects on pCR. Materials and methods Patients diagnosed with operable BC who had a positron emission tomography-computed tomography (PET-CT) or chest/abdominal CT taken at the time of diagnosis were retrospectively screened and enrolled in this study. Muscle mass was defined by third lumbar vertebra (L3) level transverse CT images, and data, including weight and height, were collected from the chemotherapy records. All these data were evaluated together with the postoperative pathological results. Results Sixty-nine operable BC patients with a median age of 46 (range: 29-72) years were included in the study. In all patients, regardless of sarcopenia, 23% (n = 16) achieved pCR to NAC. The pCR rate was 37.5% (n=6) in sarcopenic patients and 62.5% (n=10) in non-sarcopenic patients (p = 0.530). Overweight (n=4; 25%) and obese (n=2; 12.5%) patients also had a lower pathological response than normal-weight (n=10; 62.5%) BC patients (p=0.261). Conclusion Both sarcopenia and obesity independently and synergistically contribute to poorer pathological responses after NAC. Addressing these conditions through tailored interventions, such as nutritional support, exercise programs, and careful monitoring of body composition, could improve treatment outcomes. Further research with larger patient populations and comprehensive body measurements is essential to fully understand these relationships and develop effective strategies to mitigate their impact.
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The development of green aquaculture practices has led to the supplementation of fish diets with natural immunostimulants such as organic acids. This study aimed to assess the dietary effects of verjuice (VJ; unfermented unripe grapes; Vitis vinifera) on hematological parameters, skin mucosal immunity, transcriptional immune responses, and antibacterial serum activity against Aeromonas hydrophila in rainbow trout. The fish (51.0 ± 2.4 g) were randomly distributed into 15 tanks and fed ad-libitum thrice daily with diets containing different levels of VJ including 0 (control; VJ-0), 3 (VJ-3), 6 (VJ-6), 9 (VJ-9), and 12 (VJ-12) mL/kg VJ for 56 d. Results showed that immuno-hematological parameters (total white blood cells, neutrophils, and monocytes) were improved in VJ-added groups (P < 0.05). In addition, dietary VJ (9 mL/kg) modulated serum immunological parameters. Skin mucus immunology exhibited a notable increase in alkaline phosphatase, lysozyme activity, alkaline protease, total protein, total immunoglobulin, and esterase levels in VJ-9 group compared with those in the control group (P < 0.05). The mRNA expression of interleukin-1ß, interleukin-6, interleukin-8, and immunoglobulin M were significantly higher in VJ-9 group than in the control (P < 0.05). Furthermore, the results of the antibacterial evaluation showed that A. hydrophila growth was significantly inhibited in the serum samples from VJ-3 to VJ-9 groups after the 56th day and in all VJ-treated groups after the 70th (P < 0.05). In conclusion, dietary VJ is a novel immunostimulant and the optimal dietary supplementation level of 6.65-7.46 mL/kg can effectively improve immune responses in rainbow trout.
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Aeromonas hydrophila , Alimentación Animal , Dieta , Suplementos Dietéticos , Enfermedades de los Peces , Inmunidad Innata , Oncorhynchus mykiss , Vitis , Animales , Oncorhynchus mykiss/inmunología , Oncorhynchus mykiss/genética , Alimentación Animal/análisis , Dieta/veterinaria , Suplementos Dietéticos/análisis , Aeromonas hydrophila/fisiología , Vitis/química , Enfermedades de los Peces/inmunología , Inmunidad Innata/efectos de los fármacos , Distribución Aleatoria , Infecciones por Bacterias Gramnegativas/veterinaria , Infecciones por Bacterias Gramnegativas/inmunología , Adyuvantes Inmunológicos/farmacología , Adyuvantes Inmunológicos/administración & dosificación , Inmunidad Mucosa/efectos de los fármacos , Relación Dosis-Respuesta a DrogaRESUMEN
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
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Anemia Hemolítica Congénita no Esferocítica , Intrones , Piruvato Quinasa , Errores Innatos del Metabolismo del Piruvato , Humanos , Piruvato Quinasa/deficiencia , Piruvato Quinasa/genética , Masculino , Femenino , Errores Innatos del Metabolismo del Piruvato/genética , Niño , Preescolar , Anemia Hemolítica Congénita no Esferocítica/genética , Turquía , Lactante , Adolescente , MutaciónRESUMEN
BACKGROUND: Data on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited. OBJECTIVES: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection. METHOD: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022. RESULTS: The median time from HSCT to COVID-19 infection was 209.0 days (IQR, 111.7-340.8; range, 0-3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID-19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p: .001) and lymphopenia at diagnosis (OR, 5.21, p: .006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p: .028), multisystem inflammatory syndrome in children (MIS-C) (OR, 31.07, p: .003), and LRTD (OR, 10.11, p: .035) were associated with a higher risk for COVID-19-related mortality. CONCLUSION: While COVID-19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS-C or LRTD.
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COVID-19 , Trasplante de Células Madre Hematopoyéticas , Humanos , COVID-19/epidemiología , COVID-19/terapia , COVID-19/mortalidad , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Niño , Masculino , Femenino , Estudios Retrospectivos , Adolescente , Turquía/epidemiología , Preescolar , Factores de Riesgo , SARS-CoV-2 , Lactante , Trasplante Homólogo , Índice de Severidad de la EnfermedadRESUMEN
BACKGROUND: Recent studies reported that strict avoidance of milk products in cow's milk allergy (CMA) affects growth and bone turnover, causing negative calcium balance and changes in bone metabolism. OBJECTIVE: To investigate biochemical parameters to predict bone turnover and its relations with height and weight measurements and nutritional intake. METHODS: Height, weight, and body mass index z scores were plotted for age according to the World Health Organization. A 3-consecutive day food record was analyzed for nutritional values of foods. The blood levels of calcium, phosphorus, alkaline phosphatase, vitamin D, and parathyroid hormone (PTH) were determined. RESULTS: The study included 69 controls, 66 children with isolated CMA, and 59 children with multiple food allergy (FA). The z scores for weight, height, and body mass index were lower in isolated CMA and multiple FA groups than controls (P < .001, P = .004, and P = .002, respectively). The nutritional intakes of protein, fat, carbohydrates, vitamins B2 and B12, niacin, calcium, and phosphorus were significantly lower in isolated CMA and multiple FA than controls. In infants (≤2 years of age), although blood calcium level was in normal range, it was significantly lower in isolated CMA and multiple FA than in controls (P < .001). In children older than 2 years, PTH level was significantly higher in isolated CMA and multiple FA groups than in controls (P = .003). CONCLUSION: Our study revealed that children with isolated CMA and multiple FA had a high nutrition gap, growth deceleration, and unbalanced bone metabolism, as illustrated by low blood calcium and elevated PTH levels.
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Calcio , Hipersensibilidad a la Leche , Humanos , Lactante , Femenino , Masculino , Hipersensibilidad a la Leche/sangre , Preescolar , Animales , Niño , Calcio/sangre , Hormona Paratiroidea/sangre , Estatura , Leche , Peso Corporal , Vitamina D/sangre , Índice de Masa Corporal , Fósforo/sangre , Fosfatasa Alcalina/sangre , Remodelación Ósea/fisiologíaRESUMEN
The increase in the use of Renewable Energy Sources (RES) provides many advantages such as reducing the environmental problems and sustainability. In this study, a long-term optimum RES settlement strategic plan is conducted for 81 provinces in Turkey by considering real data. Biomass energy, solar energy, hydroelectric energy, geothermal energy, and wind energy are considered RES sources. Energy consumption until the 2050 year is estimated with the regARIMA method, and then a weighted goal programming model was developed in which the outputs of the regARIMA method and risk analysis are integrated. The results of the regARIMA method are tested, and the test results indicate that an R2 value close to 1 indicates that the model is suitable, a low and negative MPE value is neutral, and a MAPE value below 4% indicates high accuracy of the model. Using GAMS 23.5 optimization software program, the developed weighted goal programming model is solved optimally. In this integrated model developed, the objectives of minimizing the installation time, minimizing the investment cost, minimizing the annual cost, maximizing the carbon emission reduction, maximizing the usage time, and minimizing the risk are considered. When the results obtained regarding the number of installations according to the model are examined, the decisions are made for 53% wind energy, 23% biomass energy, 13% hydroelectric energy, 9% solar energy, and 2% geothermal energy. Computational results show that the effective solutions are obtained by minimizing the sum of goals values, covering all provinces in Turkey, and considering real data.
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Energía Renovable , Turquía , Biomasa , Viento , Modelos Teóricos , Energía SolarRESUMEN
BACKGROUND: Fenestrations of are extremely rare in the venous system, especially renal veins. This paper aims to present a case of left renal vein fenestration where a high origin testicular artery passes through it. Materials and Methods The variation was observed incidentally in a 74-year-old Caucasian male cadaver during routine retroperitoneal dissections for second year medical students. RESULTS: A fenestration in the mid portion of the left renal vein was observed. The length and height of the fenestration was 23 and 3.6 millimeters, respectively. The left testicular artery passed through the fenestration and followed a normal course distal to the fenestration. Posterior to the left renal vein, the testicular artery originated from the lateral aspect of abdominal aorta, just caudal to the left renal artery. On the right side, the testicular artery had a similar high origin, and two renal arteries were present. No venous variations were observed on the right side. CONCLUSIONS: The long course of the left renal vein is a factor of preference for donor kidney selection. Uncommon variations of the left renal veins, such as fenestrations, might result in a change in surgical technique and would put the left donor kidney at risk of prolonged anastomosis time and lower survival rates.
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OBJECTIVE: This study aims to analyze our initial findings regarding CEM-guided stereotactic vacuum-assisted biopsy for MRI-only detected lesions and compare biopsy times by MRI-guided biopsy. MATERIALS AND METHODS: In this retrospective analysis, CEM-guided biopsies of MRI-only detected breast lesions from December 2021 to June 2023were included. Patient demographics, breast density, lesion size, background parenchymal enhancement on CEM, lesion positioning, procedure duration, and number of scout views were documented. Initially, seven patients had CEM imaging before biopsy; for later cases, CEM scout views were used for simultaneous lesion depiction and targeting. RESULTS: Two cases were excluded from the initial 28 patients with 29 lesions resulting in a total of 27 lesions in 26 women (mean age:44.96 years). Lesion sizes ranged from 4.5 to 41 mm, with two as masses and the remaining as non-mass enhancements. Histopathological results identified nine malignancies (33.3 %, 9/27), including invasive cancers (55.6 %, 5/9) and DCIS (44.4 %, 4/9). The biopsy PPV rate was 33.3 %. Benign lesions comprised 66.7 %, with 22.2 % high-risk lesions. The biopsy success rate was 93.1 % (27/29), and minor complications occurred in seven cases (25.9 %, 7/27), mainly small hematomas and one vasovagal reaction (3.7 %, 1/27). Median number of scout views required was 2, with no significant differences between cases with or without prior CEM (P = 0.8). Median duration time for biopsy was 14 min, significantly shorter than MRI-guided bx at the same institution (P < 0.001) by 24 min with predominantly upright positioning of the patient (88.9 %) and horizontal approach of the needle (92.6 %). CONCLUSION: This study showed that CEM-guided biopsy is a feasible and safe alternative method and a faster solution for MRI-only detected enhancing lesions and can be accurately performed without the need for prior CEM imaging.
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Neoplasias de la Mama , Mamografía , Femenino , Humanos , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Biopsia/métodos , Biopsia con Aguja/métodos , Biopsia Guiada por Imagen/métodos , Imagen por Resonancia Magnética/métodos , Neoplasias de la Mama/diagnóstico por imagenRESUMEN
The anti-inflammatory and immunosuppressive drugs which are used in the treatment of Graft-versus-Host Disease (GVHD) have limited effects in controlling the severity of the disease. In this study, we aimed to investigate the prophylactic effect of Alantolactone (ALT) in a murine model of experimental GVHD. The study included 4 BALB/c groups as hosts: Naïve (n = 7), Control GVHD (n = 16), ALT-GVHD (n = 16), and Syngeneic transplantation (n = 10). Busulfan (20 mg/kg/day) for 4 days followed by cyclophosphamide (100 mg/kg/day) were administered for conditioning. Allogeneic transplantation was performed with cells collected from mismatched female C57BL/6, and GVHD development was monitored by histological and flow cytometric assays. Additionally, liver biopsies were taken from GVHD patient volunteers between ages 2-18 (n = 4) and non-GVHD patients between ages 2-50 (n = 5) and cultured ex vivo with ALT, and the supernatants were used for ELISA. ALT significantly ameliorated histopathological scores of the GVHD and improved GVHD clinical scores. CD8+ T cells were shown to be reduced after ALT treatment. More importantly, ALT treatment skewed T cells to a more naïve phenotype (CD62L+ CD44-). ALT did not alter Treg cell number or frequency. ALT treatment appears to suppress myeloid cell lineage (CD11c+). Consistent with reduced myeloid lineage, liver and small intestine levels of GM-CSF were reduced in ALT-treated mice. IL-6 gene expression was significantly reduced in the intestinal tissue. Ex vivo ALT-treated liver biopsy samples from GVHD patients showed a trend of decrease in pro-inflammatory cytokines but there was no statistical significance. Collectively, the data indicated that ALT may have immunomodulatory actions in a preclinical murine GVHD model.
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Linfocitos T CD8-positivos , Enfermedad Injerto contra Huésped , Lactonas , Sesquiterpenos de Eudesmano , Humanos , Ratones , Femenino , Animales , Ratones Endogámicos C57BL , Enfermedad Injerto contra Huésped/prevención & control , Trasplante Homólogo , Trasplante de Médula ÓseaRESUMEN
Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease predominantly affecting the metaphyses of long bones and is usually seen in children. Although CRMO is generally a pediatric disease, it may also occur in adults. This may result in a delay in the diagnosis of adult-onset CRMO. This report presents an adult-onset female patient who presented with left leg pain followed by swelling in the right knee. The patient was initially started on colchicine treatment, but, due to unresponsiveness in the follow-up the patient, the treatment was switched to a combination of methotrexate and prednisolone. A satisfactory clinical recovery was achieved with these drugs. CRMO could be considered in the differential diagnosis of patients presenting with bone pain and joint complaints. Considering that the disease progresses with clinical flare-ups and remission periods, it should be kept in mind that patients should be followed closely and treatment can be changed.
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Osteomielitis , Niño , Adulto , Humanos , Femenino , Osteomielitis/diagnóstico por imagen , Osteomielitis/tratamiento farmacológico , Prednisolona/uso terapéutico , Huesos , Dolor , Enfermedad CrónicaRESUMEN
PURPOSE: To compare images generated by synthetic diffusion-weighted imaging (sDWI) with those from conventional DWI in terms of their diagnostic performance in detecting breast lesions when performing breast magnetic resonance imaging (MRI). METHODS: A total of 128 consecutive patients with 135 enhanced lesions who underwent dynamic MRI between 2018 and 2021 were included. The sDWI and DWI signals were compared by three radiologists with at least 10 years of experience in breast radiology. RESULTS: Of the 82 malignant lesions, 91.5% were hyperintense on sDWI and 73.2% were hyperintense on DWI. Of the 53 benign lesions, 71.7% were isointense on sDWI and 37.7% were isointense on DWI. sDWI provides accurate signal intensity data with statistical significance compared with DWI (P < 0.05). The diagnostic performance of DWI and sDWI to differentiate malignant breast masses from benign masses was as follows: sensitivity 73.1% [95% confidence interval (CI): 62-82], specificity 37.7% (95% CI: 24-52); sensitivity 91.5% (95% CI: 83-96), specificity 71.7% (95% CI: 57-83), respectively. The diagnostic accuracy of DWI and sDWI was 59.2% and 83.7%, respectively. However, when the DWI images were evaluated with apparent diffusion coefficient mapping and compared with the sDWI images, the sensitivity was 92.68% (95% CI: 84-97) and the specificity was 79.25% (95% CI: 65-89) with no statistically significant difference. The inter-reader agreement was almost perfect (P < 0.001). CONCLUSION: Synthetic DWI is superior to DWI for lesion visibility with no additional acquisition time and should be taken into consideration when conducting breast MRI scans. The evaluation of sDWI in routine MRI reporting will increase diagnostic accuracy.
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Neoplasias de la Mama , Imagen por Resonancia Magnética , Humanos , Femenino , Estudios Retrospectivos , Imagen por Resonancia Magnética/métodos , Imagen de Difusión por Resonancia Magnética/métodos , Mama/diagnóstico por imagen , Neoplasias de la Mama/diagnóstico por imagen , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. METHODS: Data from children aged 0-19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1-5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. RESULTS: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1-4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2-18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658-0.859; p < 0.001; OR 1.187; 95% CI 1.031-1.367; p = 0.017; OR 10.031; 95% CI 2.210-45.544; p = 0.003; OR 2.722; 95% CI 1.215-6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.
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Fallo Renal Crónico , Meningomielocele , Insuficiencia Renal Crónica , Vejiga Urinaria Neurogénica , Humanos , Niño , Femenino , Recién Nacido , Lactante , Preescolar , Adolescente , Adulto Joven , Adulto , Masculino , Meningomielocele/complicaciones , Meningomielocele/epidemiología , Estudios de Cohortes , Vejiga Urinaria Neurogénica/epidemiología , Vejiga Urinaria Neurogénica/etiología , Vejiga Urinaria Neurogénica/terapia , Estudios Retrospectivos , Diálisis Renal/efectos adversos , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/etiología , Fallo Renal Crónico/complicacionesRESUMEN
RATIONALE AND OBJECTIVES: Artificial intelligence (AI) systems have been increasingly applied to breast ultrasonography. They are expected to decrease the workload of radiologists and to improve diagnostic accuracy. The aim of this study is to evaluate the performance of an AI system for the BI-RADS category assessment in breast masses detected on breast ultrasound. MATERIALS AND METHODS: A total of 715 masses detected in 530 patients were analyzed. Three breast imaging centers of the same institution and nine breast radiologists participated in this study. Ultrasound was performed by one radiologist who obtained two orthogonal views of each detected lesion. These images were retrospectively reviewed by a second radiologist blinded to the patient's clinical data. A commercial AI system evaluated images. The level of agreement between the AI system and the two radiologists and their diagnostic performance were calculated according to dichotomic BI-RADS category assessment. RESULTS: This study included 715 breast masses. Of these, 134 (18.75%) were malignant, and 581 (81.25%) were benign. In discriminating benign and probably benign from suspicious lesions, the agreement between AI and the first and second radiologists was moderate statistically. The sensitivity and specificity of radiologist 1, radiologist 2, and AI were calculated as 98.51% and 80.72%, 97.76% and 75.56%, and 98.51% and 65.40%, respectively. For radiologist 1, the positive predictive value (PPV) was 54.10%, the negative predictive value (NPV) was 99.58%, and the accuracy was 84.06%. Radiologist 2 achieved a PPV of 47.99%, NPV of 99.32%, and accuracy of 79.72%. The AI system exhibited a PPV of 39.64%, NPV of 99.48%, and accuracy of 71.61%. Notably, none of the lesions categorized as BI-RADS 2 by AI were malignant, while 2 of the lesions classified as BI-RADS 3 by AI were subsequently confirmed as malignant. By considering AI-assigned BI-RADS 2 as safe, we could potentially avoid 11% (18 out of 163) of benign lesion biopsies and 46.2% (110 out of 238) of follow-ups. CONCLUSION: AI proves effective in predicting malignancy. Integrating it into the clinical workflow has the potential to reduce unnecessary biopsies and short-term follow-ups, which, in turn, can contribute to sustainability in healthcare practices.
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PURPOSE: To evaluate changes in the color of an anterior nanohybrid composite resin and differences in its whitening index after 30 days of brushing with six brands of whitening toothpaste in vitro to simulate the situation in individuals with high coffee consumption. METHODS: Eighty-four disk-shaped resin specimens were prepared (shade A2). For initial staining, the samples were immersed in coffee solution for 14 days and then divided into eight groups for treatment with various toothpastes. Color was assessed at the baseline, after initial staining, and on days 7, 14, and 30 of the staining-and-brushing cycle. Color stability was evaluated based on the CIEDE2000 color difference (ΔE00), and differences in whiteness were determined using the whitening index for dentistry (WID). RESULTS: The highest ΔE00 and ΔWID values were obtained with Colgate Herbal, followed by Opalescence Whitening and Crest Baking Soda and Peroxide, whereas the lowest values were obtained with distilled water, followed by Yotuel Pharma B5, on day 30 of the staining-and-brushing cycle. CONCLUSION: In terms of improving the color and whiteness of coffee-stained anterior nanohybrid composite resin, Colgate Herbal, Opalescence Whitening, and Crest Baking Soda and Peroxide yielded promising results after 30 days of continuous use.
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Resinas Compuestas , Pastas de Dientes , Humanos , Café , Bicarbonato de Sodio , Peróxidos , ColorRESUMEN
Objective: The aim of this study was to evaluate efficiency of time use for radiologists and operational costs of automated breast ultrasound (ABUS) versus handheld breast ultrasound (HHUS). Materials and Methods: This study was approved by the Institutional Review Board, and informed consent was waived. One hundred and fifty-three patients, aged 21-81 years, underwent both ABUS and HHUS. The time required for the ABUS scanning and radiologist interpretation and the combined scanning and interpretation time for HHUS were recorded for screening and diagnostic exams. One-Way ANOVA test was used to compare the methods, and Cohen Kappa statistics were used to achieve the agreement levels. Finally, the cost of the methods and return of interest were compared by completing a cost analysis. Results: The overall mean ± standard deviation examination time required for ABUS examination was 676.2±145.42 seconds while mean scan time performed by radiographers was 411.76±67.79 seconds, and the mean radiologist time was 234.01±81.88 seconds. The overall mean examination time required for HHUS was 452.52±171.26 seconds, and the mean scan time and radiologist time were 419.62±143.24 seconds. The reduced time translated into savings of 7.369 TL/month, and savings of 22% in operational costs was achieved with ABUS. Conclusion: The radiologist's time was reduced with ABUS in both screening and diagnostic scenarios. Although a second-look HHUS is required for diagnostic cases, ABUS still saves radiologists time by enabling a focused approach instead of a complete evaluation of both breasts. Thus, ABUS appears to save both medical staff time and operational costs.
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The maintenance of various physiological cellular processes requires mineral magnesium (Mg). The purpose of the study was to determine a possible association between Mg level and vitamin D levels, bone mineral density (BMD), chronic diseases, and radiographic stage in individuals with knee osteoarthritis (OA). The study included 98 individuals (62 female and 36 male) who had been diagnosed with at least grade 1 knee OA. Age, sex, smoking, body mass index (BMI), family history of osteoporosis, menopausal status, duration of menopause, the presence of chronic diseases (hypertension, diabetes mellitus, hyperlipidaemia, coronary artery disease, hypothyroidism) and radiological stage of knee OA were gathered from all patients. Also, serum calcium, Mg, alkaline phosphatase, parathyroid hormone (PTH) and 25(OH)-vitamin D levels were recorded. Additionally, dual-energy X-ray absorptiometry (DEXA) was used to measure the BMD of the lumbar vertebrae (L1-L4) and femoral neck as well as anteroposterior radiography of the knee in all patients. T scores ≤-2.5 were accepted as evidence of osteoporosis. The mean age of the study population was 59.15 ± 10.58 years. The level of Mg significantly correlated with age, smoking, presence of chronic disease, duration of menopause, the level of vitamin D and PTH, and femoral neck T score (p<0.05). This study provides data supporting the relationship between magnesium levels and PTH and vitamin D levels, bone mineral density, and chronic disease. Future research is needed to examine the potential link between knee osteoarthritis and magnesium status.
Asunto(s)
Osteoartritis de la Rodilla , Osteoporosis , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Densidad Ósea , Vitamina D , Magnesio , Osteoartritis de la Rodilla/complicaciones , Osteoartritis de la Rodilla/diagnóstico por imagen , Osteoporosis/complicaciones , Enfermedad Crónica , Vitaminas , Hormona ParatiroideaRESUMEN
Iron uptake, transport, and storage require the involvement of several proteins, including ferroportin (fpn), the sole known iron efflux transporter. Due to its critical function fpn has been studied, particularly in humans. Here, we characterized the ferroportin gene in common carp (Cyprinus carpio L.) and performed RNA-seq analysis to evaluate its constitutive transcription levels across different tissues. Our results indicate that C. carpio possesses two functional fpns with distinct expression patterns, highlighting the potential for functional divergence and expression differentiation among fpns in this species.