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BACKGROUND: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1. METHODS: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017-2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors. RESULTS: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p < .001) and mucoid P. aeruginosa colonization (p < .001) were significantly higher in this group (p < .001). Overall mean annual ppFEV1 decline was -0.97% (95% confidence interval [CI] = -0.02 to -1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40-69) two groups (p = .004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26-2.54; p = .01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p = .038) were associated with significant ppFEV1 decline in the whole cohort. CONCLUSIONS: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression.
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BACKGROUND: Humanistic nursing practices scientifically improve the knowledge structure of nursing, enrich its theoretical system and support its development. Therefore, it is crucial to evaluate the humanistic practice abilities of nurses. OBJECTIVE: This study aimed to test the psycholinguistic features, language and construct validity of the Humanistic Practice Ability of Nursing Scale and to examine it according to nurses' demographic characteristics. DESIGN AND METHODS: This study was a methodological type of analytical research conducted with 397 clinical nurses working in a hospital. A questionnaire including demographic information and evaluating empathy and compassion adequacy was used. Data were analyzed using explanatory and confirmatory factor analysis, Cronbach's alpha, item-total score correlation, split-half analysis, t-test, analysis of variance and correlation analysis. RESULTS: The scale consists of 29 items and four factors, explaining 61.15% of the total variance. Factor loads were > 0.30. confirmatory factor analysis results were χ2/df: 2.58, GFI: 0.86, TLI: 0.91, IFI: 0.92, CFI: 0.92, RMSEA: 0.06, and SRMR: 0.03. The Cronbach alpha value for the full scale is 0.95. A significant relationship was found between the scale and empathy and compassion proficiency. It was observed that the scale scores differed according to the nurses' education level, working years and job satisfaction (p < 0.05). CONCLUSION: This study shows that the Turkish version of the HPAN scale is valid and reliable for 29 items and four factors. The humanistic practice ability of nurses differ according to postgraduate education, years of working in the profession and professional satisfaction.
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Antifungal medications are important due to their potential application in cancer treatment either on their own or with traditional treatments. The mechanisms that prevent the effects of these medications and restrict their usage in cancer treatment are not completely understood. The evaluation and discrimination of the possible protective effects of the anti-apoptotic members of the Bcl-2 family of proteins, critical regulators of mitochondrial apoptosis, against antifungal drug-induced cell death has still scientific uncertainties that must be considered. Novel, simple, and reliable strategies are highly demanded to identify the biochemical signature of this phenomenon. However, the complex nature of cells poses challenges for the analysis of cellular biochemical changes or classification. In this study, for the first time, we investigated the probable protective activities of Bcl-2 and Mcl-1 proteins against cell damage induced by ketoconazole (KET) and fluconazole (FLU) antifungal drugs in a yeast model through surface-enhanced Raman spectroscopy (SERS) approach. The proposed SERS platform created robust Raman spectra with a high signal-to-noise ratio. The analysis of SERS spectral data via advanced unsupervised and supervised machine learning methods enabled unquestionable differentiation (100 %) in samples and biomolecular identification. Various SERS bands related to lipids and proteins observed in the analyses suggest that the expression of these anti-apoptotic proteins reduces oxidative biomolecule damage induced by the antifungals. Also, cell viability assay, Annexin V-FITC/PI double staining, and total oxidant and antioxidant status analyses were performed to support Raman measurements. We strongly believe that the proposed approach paves the way for the evaluation of various biochemical structures/changes in various cells.
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Antifúngicos , Fluconazol , Cetoconazol , Proteína 1 de la Secuencia de Leucemia de Células Mieloides , Proteínas Proto-Oncogénicas c-bcl-2 , Saccharomyces cerevisiae , Espectrometría Raman , Cetoconazol/farmacología , Antifúngicos/farmacología , Espectrometría Raman/métodos , Fluconazol/farmacología , Saccharomyces cerevisiae/efectos de los fármacos , Proteínas Proto-Oncogénicas c-bcl-2/metabolismo , Proteína 1 de la Secuencia de Leucemia de Células Mieloides/metabolismo , Proteína 1 de la Secuencia de Leucemia de Células Mieloides/análisis , Aprendizaje AutomáticoRESUMEN
OBJECTIVE: Recent evidence suggests that alexithymic deficits in emotional processing may also affect physical health, and alexithymia may also be associated with organic disorders. The emotional well-being of patients with primary ciliary dyskinesia (PCD) is often negatively affected by uncertainty about the prognosis, lack of ongoing medical care, and lack of symptom control. This study aims to evaluate the frequency of alexithymia and its possible impact on the management of childhood PCD. MATERIALS AND METHODS: Subjects were recruited from patients with PCD and healthy volunteers aged 8-18 years. The questionnaire included sociodemographic characteristics and self-report scales. Data were compared between patient and control groups. RESULTS: In the >14 years of age group, the total Toronto Alexithymia Scale (TAS-20) score was significantly higher in the patients (56.60 ± 13.01) compared to the control group (46.47 ± 7.50) (p = .007). There were 6 (30) patients with a TAS-20 score ≥61. There was a significant correlation between TAS-20 and Pediatric Quality of Life (PedsQL) score (child), but no correlation between TAS-20 and Kovacs Children Depression Inventory (CDI) and PedsQL score (parents). The TAS-20 score was significantly higher in patients with bronchiectasis (p = .035), nasal polyps (p = .045), and siblings with PCD (p = .001). Furthermore, the TAS-20 score had a significant negative correlation with pulmonary function tests. CONCLUSION: Although this study is based on limited data from a single center and cannot be generalized to all PCD patient communities, our results show that PCD patients are more likely to have alexithymia compared to healthy controls and highlight the need to evaluate for alexithymia in patients with PCD. It is important for pediatric pulmonologists to have a thorough knowledge of the alexithymic features associated with PCD and to refer patients to pediatric psychiatry when necessary, especially in patients who are noncompliant with treatment protocols.
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INTRODUCTION: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs. METHODS: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the 'Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators. RESULTS: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p = .010), lower median height z-scores (-0.87 vs. -0.55, p < .001), lower median body mass index z-scores (-0.65 vs. -0.50, p < .001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0-2] vs. 0 [IQR: 0-7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1. CONCLUSION: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes.
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Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1-258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1-12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3-258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization. Conclusion: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis. What is Known: ⢠Children who have chronic diseases are the group that is most affected by wars. ⢠The outcome gets better with early diagnosis and treatment in patients with Cystic Fibrosis (CF). What is New: ⢠Through the implementation of a newborn screening program, which has never been done in Syria previously, refugee patients, the majority of whom are Syrians were diagnosed with cystic fibrosis within a duration of 4 months. ⢠Despite equal access to the newborn screening program and CF medications for both Turkish patients and refugee patients, the challenges of living in a foreign country have an impact on refugees.
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Fibrosis Quística , Pueblos de Medio Oriente , Refugiados , Recién Nacido , Masculino , Niño , Femenino , Humanos , Lactante , Preescolar , Adolescente , Fibrosis Quística/diagnóstico , Fibrosis Quística/epidemiología , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Turquía/epidemiología , Tamizaje Neonatal/métodosRESUMEN
This study investigates the protective role of Hispidulin on acute respiratory distress syndrome (ARDS) in rats. Rats were divided into three groups: control, ARDS, ARDS+ Hispidulin. The ARDS models were established by injecting rats with oleic acid. Hispidulin (100 mg/kg) was injected i.p. an hour before ARDS. Myeloperoxidase (MPO), Interleukin-8 (IL-8), Mitogen-activated protein kinases (MAPK), Lipid Peroxidation (LPO), Superoxide Dismutase (SOD), Glutathione (GSH), and Angiotensin-converting enzyme (ACE) were determined by ELISA. Tumor necrosis factor-alpha (TNF-α) expression was described by RT-qPCR. Caspase-3 immunostaining was performed to evaluate apoptosis. Compared with the model group, a significant decrease was observed in the MPO, IL-8, MAPK, ACE, LPO levels, and TNF-α expression in the ARDS+ Hispidulin group. Moreover, reduced caspase-3 immunoreactivity and activity of ACE were detected in the Hispidulin+ARDS group. The protective effect of Hispidulin treatment may act through inhibition of the ACE activity and then regulation of inflammatory cytokine level and alteration of apoptosis.
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Flavonas , Pulmón , Síndrome de Dificultad Respiratoria , Ratas , Animales , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Proteínas Quinasas Activadas por Mitógenos/farmacología , Ácido Oléico/toxicidad , Caspasa 3 , Interleucina-8 , Factor de Necrosis Tumoral alfa/metabolismo , Factor de Necrosis Tumoral alfa/farmacología , Síndrome de Dificultad Respiratoria/patologíaRESUMEN
The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated. Clinical characteristics were compared between two main chILD groups ((A) diffuse parenchymal lung diseases (DPLD) disorders manifesting primarily in infancy [group1] and (B) DPLD disorders occurring at all ages [group 2]). There were 416 patients registered from 19 centers. Forty-six patients were excluded due to missing information. The median age of diagnosis of the patients was 6.05 (1.3-11.6) years. Across the study population (n = 370), 81 (21.8%) were in group 1, and 289 (78.1%) were in group 2. The median weight z-score was significantly lower in group 1 (- 2.0 [- 3.36 to - 0.81]) than in group 2 (- 0.80 [- 1.7 to 0.20]) (p < 0.001). When we compared the groups according to chest CT findings, ground-glass opacities were significantly more common in group 1, and nodular opacities, bronchiectasis, mosaic perfusion, and mediastinal lymphadenopathy were significantly more common in group 2. Out of the overall study population, 67.8% were undergoing some form of treatment. The use of oral steroids was significantly higher in group 2 than in group 1 (40.6% vs. 23.3%, respectively; p = 0.040). Conclusion: This study showed that national registry allowed to obtain information about the frequency, types, and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. What is Known: ⢠Childhood interstitial lung diseases comprise many diverse entities which are challenging to diagnose and manage. What is New: ⢠This study showed that national registry allowed to obtain information about the frequency, types and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. Also, our findings reveal that nutrition should be considered in all patients with chILD, especially in A-DPLD disorders manifesting primarily in infancy.
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Enfermedades Pulmonares Intersticiales , Linfadenopatía , Niño , Humanos , Pulmón , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/epidemiología , Enfermedades Pulmonares Intersticiales/terapia , Estudios Prospectivos , Sistema de Registros , Turquía/epidemiología , Lactante , PreescolarRESUMEN
AIM: Nurses responsible for the care of children in the emergency department must be aware of the case profile of the pandemic era, better prepare for developing crises, and identify preventive services. The study aims to determine the pediatric emergency cases admitted during the pandemic and compare them to those during the pre-pandemic period. METHODS: The current study was designed as a single-center, retrospective, cross-sectional, and descriptive research. All patients aged between 0 and 18 who presented to the pediatric emergency department and had electronic patient records were included in the research population. The data were gathered over two periods: the pre-pandemic period from 2019 to 2020 and the pandemic period from 2020 to 2021. A total of 145,591 patient records were analyzed. RESULTS: The number of admissions declined by 51.6% during the pandemic, and a noticeable difference in the reasons for emergency department visits (p = 0.001) was detected. The pandemic saw a decrease in the cases of respiratory, gastrointestinal diseases, and ear, nose, and throat problems. In contrast, there was an increase in the cases of musculoskeletal system diseases, infections, falls, traumas, and neonatal problems. CONCLUSION: The number of pediatric emergency cases decreased significantly during the pandemic, and compared to the pre-pandemic period, some changes in these cases were observed. PRACTICAL IMPLICATIONS: Particular attention should be given to ensuring that mothers of newborn infants receive adequate nursing care. Nurses working in the emergency department should keep their knowledge up-to-date regarding the changing health issues specific to the pandemic period.
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COVID-19 , Lactante , Recién Nacido , Humanos , Niño , Preescolar , Adolescente , COVID-19/epidemiología , Estudios Transversales , Pandemias , Estudios Retrospectivos , Concienciación , Servicio de Urgencia en HospitalRESUMEN
INTRODUCTION: This study aims to assess caregiver burnout in relation to children diagnosed with laryngomalacia and identify factors influencing burnout levels. MATERIALS AND METHODS: A cohort of 101 caregivers of children with laryngomalacia was studied. Burnout was assessed using the Zarit burden interview (ZBI), while the Hamilton anxiety and Hamilton depression scales were employed to gauge psychological distress. The relationship between burnout and variables like the severity of laryngomalacia, the presence of comorbidities, the child's age, and caregiver demographics was examined using statistical tools in SPSS Statistics version 28.0 (IBM Corp., Armonk, NY, USA). RESULTS: Caregiver burnout decreased as the child's age increased. A direct correlation was observed between the severity of laryngomalacia and caregiver burnout. The presence of comorbidities in children increased caregiver burnout. Moreover, caregivers with increased levels of depression and anxiety exhibited higher burnout levels. No significant correlation was found between caregiver burnout and socioeconomic status or educational level. CONCLUSION: The severity of laryngomalacia, the child's age, the presence of comorbidities, and caregivers' psychological health are significant influencers of caregiver burnout. Healthcare professionals should offer targeted support to caregivers, addressing both their physical and psychological needs.
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OBJECTIVE: Only a few studies have investigated the frequency and severity of respiratory syncytial virus (RSV) infections after the end of the pandemic regulations. This study aims to investigate the frequency and severity of RSV infections before, during, and after the pandemic in Turkey. MATERIALS AND METHODS: Patients under 18 years of age and those who tested positive for RSV between April 2018 and March 2023 were retrospectively reviewed. All patients were divided into three groups (pre-COVID-19, COVID-19, and post-COVID-19) according to admission date. Among inpatients, data were compared between the three groups to determine the impact of the pandemic on RSV epidemiology and clinical outcomes. RESULTS: A total of 9567 patients were tested for RSV, of which 1073 (11.2%) were positive and included in the study. Hospitalization occurred in 447 (41.7%) patients. Inpatients were younger than outpatients (p < .000). Among the three inpatient pandemic groups, clinical outcomes were statistically significantly worse in the post-COVID-19 group than in the other two groups. SpO2 was lower (p < .000), inhaled salbutamol requirement was higher (p < .000), length of stay was longer (p = .031), and ICU admission was higher (p = .023). CONCLUSION: Although the RSV trend changed within 2 years after the COVID-19 outbreak, it returned to its usual seasonality last year. After the repeal of all COVID-19 measures and the normal life began, the number of RSV-positive patients and RSV-related hospitalizations increased, and the clinical outcomes of RSV worsened. This may be a result of decreased herd immunity due to a change in society's attitude toward epidemic diseases.
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COVID-19 , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Humanos , Lactante , Adolescente , Estudios Retrospectivos , Pandemias , Infecciones por Virus Sincitial Respiratorio/epidemiología , Hospitalización , COVID-19/epidemiologíaRESUMEN
INTRODUCTION: Bronchiolitis obliterans is characterized by partial or total occlusion of the bronchioles due to inflammation and fibrosis, and the most common form is postinfectious bronchiolitis obliterans (PIBO). This study aimed to retrospectively present our intravenous immunoglobulin (IVIG) treatment experience in PIBO patients with a clinically severe course despite receiving commonly used treatment protocols. MATERIALS AND METHODS: The study included patients aged 0-18 with subtle immunological abnormalities who were followed up in our center for PIBO between 2010 and 2021. Clinical evaluation, body mass index (BMI), computerized tomography (CT) image scoring, and immunological parameters were recorded before and after IVIG treatment. RESULTS: Of the 11 patients included in the study, 90% were male, the mean age at diagnosis was 27.1 months (range: 5-68 months) and the mean current age was 81.4 months (range: 15-188 months). The number of hospital visits due to infection and the frequency of hospitalizations decreased markedly in the patients who underwent IVIG therapy. Oxygen therapy was discontinued in all patients, and improvements in radiological severity scores were observed. BMI z-scores improved over the baseline values after IVIG therapy. CONCLUSION: Corticosteroids are considered the best first-line treatment to control inflammation in PIBO. In our study group, PIBO patients showed favorable clinical and radiological responses to regular IVIG treatment, possibly due to minor immune deficiency secondary to steroids or as a result of undetected adaptive and innate immune defects involved in the etiology of severe PIBO.
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Bronquiolitis Obliterante , gammaglobulinas , Humanos , Masculino , Femenino , Estudios Retrospectivos , gammaglobulinas/uso terapéutico , Inmunoglobulinas Intravenosas/uso terapéutico , Pruebas de Función Respiratoria , Bronquiolitis Obliterante/diagnóstico por imagen , Bronquiolitis Obliterante/tratamiento farmacológico , Bronquiolitis Obliterante/etiología , Inflamación/complicacionesRESUMEN
To elucidate the spectrum of metastatic solid tumors to the testis and their clinicopathologic features. The databases and files of 26 pathology departments from 9 countries on 3 continents were surveyed to identify metastatic solid tumors to the testis and to characterize their clinicopathologic features in detail. We compiled a series of 157 cases of metastatic solid tumors that secondarily involved the testis. The mean patient age at diagnosis was 64 years (range, 12-93 years). Most patients (127/144; 88%) had clinical manifestation of the disease, with testicular mass/nodule (89/127; 70%) being the most common finding. The main mechanism of testicular involvement was metastasis in 154/157 (98%) cases. Bilateral testicular involvement was present in 12/157 (8%) patients. Concurrent or prior extratesticular metastases were present in 78/101 (77%) patients. The diagnosis was made mainly in orchiectomy specimens (150/157; 95%). Different types of carcinomas (138/157; 87%), most commonly adenocarcinoma (72/157; 46%), were the most common malignancies. The most common primary carcinomas included prostatic (51/149; 34%), renal (29/149; 20%), and colorectal (13/149; 9%). Intratubular growth was identified in 13/124 (11%) cases and paratesticular involvement was found in 73/152 (48%) cases. In patients with available follow-up (110/157; 70%), more than half (58/110; 53%) died of disease. In this largest series compiled to date, we found that most secondary tumors of the testis represent metastases from the genitourinary and gastrointestinal tract carcinomas and typically occur in the setting of disseminated disease.
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Adenocarcinoma , Carcinoma , Neoplasias Primarias Secundarias , Neoplasias Testiculares , Masculino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Neoplasias Testiculares/patología , Adenocarcinoma/secundarioRESUMEN
Diffuse large B-cell lymphoma (DLBCL) shows a high degree of clinical and biological heterogeneity. Primary testicular lymphoma (PTL) is an extranodal variant of DLBCL associated with a higher risk of recurrence, including contralateral testicles and central nervous system sanctuary sites. Several molecular aberrations, including somatic mutation of MYD88, CD79B, and upregulation of NF-kB, PDL-1, and PDL-2, are thought to contribute to the pathogenesis and poor prognosis of PTL. However, additional biomarkers are needed that may improve the prognosis and help understand the PTL biology and lead to new therapeutic targets. RNA from diagnostic tissue biopsies of the PTL-ABC subtype and matched nodal DLBCL-ABC subtype patients was evaluated by mRNA and miRNA expression. Screening of 730 essential oncogenic genes was performed, and their epigenetic connections were examined using the nCounter PAN-cancer pathway, and Human miRNA assays with the nCounter System (NanoString Technologies). PTL and nodal DLBCL patients were comparable in age, gender, and putative cell of origin (p > 0.05). Wilms tumor 1 (WT1) expression in PTL exceeded that in nodal DLBCL (>6-fold; p = 0.01, FDR <0.01) and WT1 associated pathway genes THBS4, PTPN5, PLA2G2A, and IFNA17 were upregulated in PTL (>2.0-fold, p < 0.01, FDR <0.01). Additionally, miRNAs targeting WT1 (hsa15a-5p, hsa-miR-16-5p, has-miR-361-5p, has-miR-27b-3p, has-miR-199a-5p, has-miR-199b-5p, has-miR-132-3p, and hsa-miR-128-3p) showed higher expression in PTL compared to nodal DLBCL (≥2.0-fold; FDR 0.01). Lower expression of BMP7, LAMB3, GAS1, MMP7, and LAMC2 (>2.0-fold, p < 0.01) was observed in PTL compared to nodal DLBCL. This research revealed higher WT1 expression in PTL relative to nodal DLBCL, suggesting that a specific miRNA subset may target WT1 expression and impact the PI3k/Akt pathway in PTL. Further investigation is needed to explore WT1's biological role in PTL and its potential as a therapeutic target.
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Linfoma de Células B Grandes Difuso , MicroARNs , Humanos , Proteínas WT1/uso terapéutico , ARN Mensajero/genética , Fosfatidilinositol 3-Quinasas/uso terapéutico , MicroARNs/genética , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Proteínas Tirosina Fosfatasas no ReceptorasRESUMEN
BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment. METHODS: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment. RESULTS: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased. CONCLUSIONS: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide.
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Fibrosis Quística , Quinolonas , Humanos , Fibrosis Quística/complicaciones , Fibrosis Quística/tratamiento farmacológico , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/uso terapéutico , Estudios Retrospectivos , Aminofenoles/uso terapéutico , Quinolonas/uso terapéutico , MutaciónRESUMEN
BACKGROUND: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV1) decline and LT candidates without rapid FEV1 decline in the last year to identify a preventable cause in patients with such rapid FEV1 decline. METHODS: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV1 below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV1 decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. RESULTS: Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV1 in 2017 in Group 1 and between FEV1 values in 2017 and 2018 in Group 2. CONCLUSIONS: There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral.
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Fibrosis Quística , Trasplante de Pulmón , Humanos , Fibrosis Quística/epidemiología , Fibrosis Quística/cirugía , Fibrosis Quística/complicaciones , Datos de Salud Recolectados Rutinariamente , Pulmón , Volumen Espiratorio Forzado , Derivación y ConsultaRESUMEN
AIMS: To elucidate the spectrum of metastatic tumours to the penis and their clinicopathologic features. METHODS: The databases and files of 22 pathology departments from eight countries on three continents were queried to identify metastatic solid tumours of the penis and to characterize their clinical and pathologic features. RESULTS: We compiled a series of 109 cases of metastatic solid tumours that secondarily involved the penis. The mean patient age at diagnosis was 71 years (range, 7-94 years). Clinical presentation commonly included a penile nodule/mass (48/95; 51%) and localised pain (14/95; 15%). A prior history of malignancy was known in 92/104 (89%) patients. Diagnosis was made mainly on biopsy (82/109; 75%), or penectomy (21/109; 19%) specimens. The most common penile locations were the glans (45/98; 46%) and corpus cavernosum (39/98; 39%). The most frequent histologic type was adenocarcinoma (56%). Most primary carcinomas originated in the genitourinary (76/108; 70%) and gastrointestinal (20/108; 18%) tracts, including prostate (38/108; 35%), urinary bladder (27/108; 25%), and colon/rectum (18/108; 17%). Concurrent or prior extrapenile metastases were identified in 50/78 (64%) patients. Clinical follow-up (mean 22 months, range 0-171 months) was available for 87/109 (80%) patients, of whom 46 (53%) died of disease. CONCLUSION: This is the largest study to date of metastatic solid tumours secondarily involving the penis. The most frequent primaries originated from the genitourinary and gastrointestinal tracts. Metastatic penile tumours usually presented with penile nodules/masses and pain, and they often occurred in the setting of advanced metastatic disease, portending poor clinical outcomes.
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Adenocarcinoma , Neoplasias del Pene , Masculino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Pene/patología , Neoplasias del Pene/patología , Adenocarcinoma/patología , BiopsiaRESUMEN
OBJECTIVE: The clinical course of new COVID-19 variants in adolescents is still unknown. The aim of this study is to evaluate the clinical characteristics of COVID-19 in adolescents and compare the differences between the original version and the delta variant. MATERIALS AND METHODS: The medical records of patients aged 10-18 years treated for COVID-19 between April 1, 2020 and March 31, 2022 were retrospectively reviewed. Patients were divided into four groups (asymptomatic, mild, moderate, and severe) for COVID-19 severity and into two groups according to the diagnosis date (first-second year). The primary endpoint of the study was hospital admission. RESULTS: The mean age of patients was 171.81 ± 29.5 months, and most of them were males (n: 435, 53.3%). While the patient number was 296 (43.52%) in the first year of pandemic, it raised to 520 (54.11%) in the second year (p < 0.01). The severity of COVID-19 was mild in 667 (81.7%) patients. In the comparison of patients according to the diagnosis date (first-second years); the parameters of anosmia, ageusia, weakness, muscle pain, vomiting, hospital admission, and length of stay in hospital were statistically different (p < 0.05). In the comparison of hospitalized patients between years, the necessity of oxygen support (p < 0.001), endotracheal intubation rates (p < 0.05), length of stay in the hospital (p < 0.001), and the severity of COVID-19 (p < 0.05) was significantly higher in the second year. CONCLUSION: The clinical course for adolescents diagnosed with COVID-19 has linearly changed with the delta variant. Our results confirmed that the delta variant is more transmissible, requires more oxygen support, increases endotracheal intubation, and prolongs the length of stay in the hospital.