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1.
Eur J Pediatr ; 183(4): 1831-1838, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38265526

RESUMEN

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.


Asunto(s)
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/métodos
2.
Eur J Pediatr ; 183(1): 295-304, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37875631

RESUMEN

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.


Asunto(s)
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 , Preescolar
3.
J Pediatr Nurs ; 74: 17-22, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37980796

RESUMEN

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.


Asunto(s)
COVID-19 , Lactante , Recién Nacido , Humanos , Niño , Preescolar , Adolescente , COVID-19/epidemiología , Estudios Transversales , Pandemias , Estudios Retrospectivos , Concienciación , Servicio de Urgencia en Hospital
4.
Int J Environ Health Res ; 34(2): 755-766, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36624973

RESUMEN

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.


Asunto(s)
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/patología
5.
BMC Nurs ; 23(1): 448, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38951778

RESUMEN

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.

6.
Histopathology ; 82(3): 431-438, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36226695

RESUMEN

Myoid gonadal stromal tumours (MGST) represent a rare type of testicular sex cord-stromal tumour that has recently been recognised as a distinct entity by the World Health Organization (WHO) classification of genitourinary tumours. MGSTs affect adult men and have been reported to behave in an indolent fashion. Histologically, MGSTs are pure spindle cell neoplasms that coexpress SMA and S100 protein. Given that the molecular features of these neoplasms remain largely undescribed, we evaluated a multi-institutional series of MGSTs using DNA and RNA sequencing. This study included 12 tumours from 12 patients aged 28 to 57 years. Tumour sizes ranged from 0.6 to 4.3 cm. Aggressive histologic features, such as vascular invasion, necrosis, invasive growth, and atypical mitoses were invariably absent. Mitotic activity was low, with a median of less than 1 mitosis per 10 high power fields (HPF; maximum: 3 mitoses per 10 HPF). Molecular analyses did not identify recurrent mutations or gene fusions. All cases with interpretable copy number variant data (9/10 cases sequenced successfully) demonstrated a consistent pattern of chromosome arm-level and whole-chromosome-level copy number gains indicative of ploidy shifts, with recurrent gains involving chromosomes 3, 6, 7, 8, 9, 11, 12, 14q, 15q, 17, 18q, 20, and 21q. Similar findings have also been recognised in pure spindle cell and spindle-cell predominant sex cord-stromal tumours without S100 protein expression. MGSTs are characterised by ploidy shifts and may be part of a larger spectrum of spindle cell-predominant sex cord-stromal tumours, including cases without S100 protein expression.


Asunto(s)
Tumores de los Cordones Sexuales y Estroma de las Gónadas , Neoplasias Testiculares , Adulto , Humanos , Masculino , Cromosomas/metabolismo , Variaciones en el Número de Copia de ADN , Proteínas S100 , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Neoplasias Testiculares/patología , Persona de Mediana Edad
7.
Histopathology ; 83(1): 31-39, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37071396

RESUMEN

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.


Asunto(s)
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 , Biopsia
8.
Hematol Oncol ; 41(5): 828-837, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37291944

RESUMEN

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.


Asunto(s)
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 Receptoras
9.
Transfus Apher Sci ; 62(3): 103623, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36526531

RESUMEN

BACKGROUND: Patients with thalassemia need regular blood transfusions to maintain normal growth and suppression of ineffective erythropoiesis. Packed red blood cell (RBC) units can be delivered by infusion pumps (IPs); however, IPs may cause mechanical stress-induced RBC lysis. This study aimed to investigate the biomarkers of hemolysis related to transfusion techniques in patients with thalassemia. MATERIAL AND METHODS: Eighty-one thalassemia patients compared to those 42 healthy controls in terms of hemolysis markers (hemoglobin, plasma free hemoglobin (Hb), haptoglobin, potassium (K), lactate dehydrogenase (LDH)) before transfusion. Considering the age and peripheral venous diameter of the patient, the physician decided on the caliber of vascular access device (22 G or 24 G) for transfusion and the method to be used (gravitational method [GM] or IP). Hemolysis markers were repeated after transfusion in thalassemia patients. RESULTS: Packed RBC units were transfused to 24 (30 %) patients by IP and 57 (70 %) patients by GM. Plasma free Hb was significantly increased from 4.76 ± 7.92 mg/dL to 9.01 ± 7.66 mg/dL following transfusion (p < 0.001). There was no significant difference between IP and GM in terms of plasma free Hb increase. Post-transfusion plasma free Hb, LDH, and K levels significantly increased in patients who were transfused with 24 G catheters compared to those transfused with 22 G. CONCLUSION: An elevation in LDH levels was detected after transfusion with volumetric IPs; however, plasma free Hb or K levels were not affected by the transfusion method. Studies are needed to determine the factors associated with hemolysis after transfusion.


Asunto(s)
Hemólisis , Talasemia , Humanos , Transfusión de Eritrocitos/métodos , Transfusión Sanguínea , Hemoglobinas , Bombas de Infusión , L-Lactato Deshidrogenasa
10.
Eur J Pediatr ; 182(3): 1067-1076, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36565324

RESUMEN

We aimed to evaluate cutoff values of immunoreactive trypsinogen (IRT)/IRT and determine relationship between IRT values and clinical characteristics of children with cystic fibrosis (CF). This study is cross-sectional study. Data of children with positive newborn screening (NBS) between 2015 and 2021 were evaluated in three pediatric pulmonology centers. Age at admission, sex, gestational age, presence of history of meconium ileus, parental consanguinity, sibling with CF, and doll-like face appearance, first and second IRT values, sweat chloride test, fecal elastase, fecal fat, biochemistry results, and age at CF diagnosis were recorded. Sensitivity and specificity of IRT cutoff values were evaluated. Of 815 children with positive NBS, 58 (7.1%) children were diagnosed with CF. Median values of first and second IRT were 157.2 (103.7-247.6) and 113.0 (84.0-201.5) µg/L. IRT values used in current protocol, sensitivity was determined as 96.6%, specificity as 17.2% for first IRT, and 96.6% sensitivity, 20.5% specificity for second IRT. Positive predictive value (PPV) was determined as 7.1%. When cutoff value for first IRT was estimated as 116.7 µg/L, sensitivity was 69.0% and specificity was 69.6%, and when cutoff value was set to 88.7 µg/L for second IRT, sensitivity was 69.0% and specificity was 69.0%. Area under curve was 0.757 for first and 0.763 for second IRT (p < 0.001, p < 0.001, respectively). PPV was calculated as 4.3%.    Conclusion: Although sensitivity of CF NBS is high in our country, its PPV is significantly lower than expected from CF NBS programs. False-positive NBS results could have been overcome by revising NBS strategy. What is Known: • Although immunoreactive trypsinogen elevation is a sensitive test used in cystic fibrosis newborn screening, its specificity is low. • In countries although different algorithms are used, all strategies begin with the measurement of immunoreactive trypsinogen in dried blood spots. What is New: • In our study, it was shown that use of the IRT/IRT protocol for cystic fibrosis newborn screening is not sufficient for the cut-off values determined by the high number of patients. • Newborn screening strategy should be reviewed to reduce false positive newborn screening results.


Asunto(s)
Fibrosis Quística , Recién Nacido , Niño , Humanos , Fibrosis Quística/diagnóstico , Tamizaje Neonatal/métodos , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Tripsinógeno , Estudios Transversales , Sensibilidad y Especificidad
11.
Mod Pathol ; 35(12): 1944-1954, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36180576

RESUMEN

A subset of testicular sex cord-stromal tumors (SCST), which includes neoplasms with mixed histology, cannot be classified into a specific histologic subtype. This study evaluated the clinicopathologic, immunophenotypic and molecular features of 26 SCST not amenable to specific classification by expert uropathologists. Median age at diagnosis was 43 years and median tumor size was 2.4 cm. Follow-up information was available for 18 (69%) patients, with evidence of an aggressive clinical course in 6 patients (4 alive with disease, 2 dead of disease 3 months and 6 months after orchiectomy). Microscopically, SCST not amenable to specific classification demonstrated monophasic epithelioid (9/26, 35%), monophasic spindle cell (5/26, 19%), and biphasic or mixed histology (12/26, 46%). One or more aggressive histopathologic features were seen in 11 cases. DNA sequencing was successful in 22 tumors. Pathogenic CTNNB1 and APC alterations were seen in 7 (33%) and 2 (10%) cases, respectively, with additional variants (e.g., CDKN2A, RB1, TP53, BRCA2) being identified in individual cases. Combined evaluation of morphology, sequencing data and beta-catenin immunohistochemistry resulted in reclassification of 6 (23%) tumors as Sertoli cell tumor, not otherwise specified. This was supported by comparing the methylation profiles of a subset of these tumors and those of typical Sertoli cell tumors. Additionally, a subset of 5 neoplasms (19%) with spindle cell or biphasic histology and SMA expression was characterized by hyperdiploid genomes with recurrent chromosomal gains and absence of driver mutations, possibly representing a distinct tumor type. The SCST that remained not amenable to specific histologic classification (15/26, 58%) were enriched for aggressive histologic features and malignant clinical behavior. In conclusion, this study demonstrated that a subset of testicular SCST that were originally not amenable to specific classification could be reclassified by combined evaluation of morphology, immunohistochemistry and molecular data.


Asunto(s)
Tumores de los Cordones Sexuales y Estroma de las Gónadas , Neoplasias Testiculares , Masculino , Humanos , Tumores de los Cordones Sexuales y Estroma de las Gónadas/genética , Tumores de los Cordones Sexuales y Estroma de las Gónadas/metabolismo , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Neoplasias Testiculares/patología , Inmunohistoquímica , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo
12.
Mod Pathol ; 35(3): 344-351, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34521993

RESUMEN

A distinct renal tumor has recently been described as "high-grade oncocytic renal tumor" and "sporadic renal cell carcinoma with eosinophilic and vacuolated cytoplasm". The Genitourinary Pathology Society (GUPS) consensus proposed a unifying name "eosinophilic vacuolated tumor" (EVT) for this emerging entity. In this multi-institutional study, we evaluated 19 EVTs, particularly their molecular features and mutation profile, using next-generation sequencing. All cases were sporadic and none of the patients had a tuberous sclerosis complex. There were 8 men and 11 women, with a mean age of 47 years (median 50; range 15-72 years). Average tumor size was 4.3 cm (median 3.8 cm; range 1.5-11.5 cm). All patients with available follow-up data (18/19) were alive and without evidence of disease recurrence or progression during the follow-up, ranging from 12 to 198 months (mean 56.3, median 41.5 months). The tumors were well circumscribed, but lacked a well-formed capsule, had nested to solid growth, focal tubular architecture, and showed ubiquitous, large intracytoplasmic vacuoles, round to oval nuclei, and prominent nucleoli. Immunohistochemically, cathepsin K, CD117, CD10, and antimitochondrial antigen were expressed in all cases. Other positive stains included: PAX8, AE1/AE3 and CK18. CK7 was typically restricted only to rare scattered cells. Vimentin, HMB45, melan-A, and TFE3 were negative in all cases. All tumors showed retained SDHB. All cases (19/19) showed non-overlapping mutations of the mTOR pathway genes: TSC1 (4), TSC2 (7), and MTOR (8); one case with MTOR mutation showed a coexistent RICTOR missense mutation. Low mutational rates were found in all samples (ranged from 0 to 6 mutations/Mbp). Microsatellite instability and copy number variations were not found in any of the 17 analyzable cases. EVT represents an emerging renal entity that shows a characteristic and readily identifiable morphology, consistent immunohistochemical profile, indolent behavior, and mutations in either TSC1, TSC2, or MTOR genes.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Carcinoma de Células Renales/patología , Variaciones en el Número de Copia de ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Riñón/patología , Neoplasias Renales/patología , Mutación , Recurrencia Local de Neoplasia , Serina-Treonina Quinasas TOR/genética
13.
Mod Pathol ; 35(6): 836-849, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-34949766

RESUMEN

Most succinate dehydrogenase (SDH)-deficient renal cell carcinomas (RCCs) demonstrate stereotypical morphology characterized by bland eosinophilic cells with frequent intracytoplasmic inclusions. However, variant morphologic features have been increasingly recognized. We therefore sought to investigate the incidence and characteristics of SDH-deficient RCC with variant morphologies. We studied a multi-institutional cohort of 62 new SDH-deficient RCCs from 59 patients. The median age at presentation was 39 years (range 19-80), with a slight male predominance (M:F = 1.6:1). A relevant family history was reported in 9 patients (15%). Multifocal or bilateral tumors were identified radiologically in 5 patients (8%). Typical morphology was present at least focally in 59 tumors (95%). Variant morphologies were seen in 13 (21%) and included high-grade nuclear features and various combinations of papillary, solid, and tubular architecture. Necrosis was present in 13 tumors, 7 of which showed variant morphology. All 62 tumors demonstrated loss of SDHB expression by immunohistochemistry. None showed loss of SDHA expression. Germline SDH mutations were reported in all 18 patients for whom the results of testing were known. Among patients for whom follow-up data was available, metastatic disease was reported in 9 cases, 8 of whom had necrosis and/or variant morphology in their primary tumor. Three patients died of disease. In conclusion, variant morphologies and high-grade nuclear features occur in a subset of SDH-deficient RCCs and are associated with more aggressive behavior. We therefore recommend grading all SDH-deficient RCCs and emphasize the need for a low threshold for performing SDHB immunohistochemistry in any difficult to classify renal tumor, particularly if occurring at a younger age.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Femenino , Humanos , Hiperplasia , Inmunohistoquímica , Neoplasias Renales/genética , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Necrosis , Succinato Deshidrogenasa/genética , Adulto Joven
14.
Phys Chem Chem Phys ; 24(31): 18615-18626, 2022 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-35894693

RESUMEN

Oxygen vacancies in tungsten trioxide (WO3) nanostructures (WO3-x) dominate the major characteristics of the material and determine their activity in various applications including photocatalysis and surface-enhanced Raman spectroscopy (SERS). Despite some studies performed in the last decade, the photocatalytic activity toward different pollutants and SERS activity toward different Raman reporter molecules are still unclear and may provide valuable insights into this research field. Therefore, in this study, we propose WO3-x nanowires (NWs) both as ideal photocatalysts for the degradation of organic pollutants such as crystal violet (CV), methylene blue (MB), malachite green (MG), and rhodamine 6G (R6G) and a SERS platform for the detection of these molecules. In the first step, WO3-x NWs were fabricated through the solvothermal method. Afterward, the oxygen vacancy content of WO3-x NWs was manipulated by the addition of silver ions or H2O2. Although H2O2 led to a remarkable decrease in oxygen vacancies (WO3), the addition of silver ions led to the formation of Ag nanostructures on WO3-x NWs (WO3-x@Ag). Interestingly, the combination of WO3-x and WO3-x@Ag nanosystems with all dye molecules resulted in the formation of H-aggregates due to the strong electrostatic interaction between the nanostructure and dye molecules and then its photocatalytic degradation, while regular degradation of dyes was observed for WO3. In SERS activity tests, each NP system exhibited different activities depending on various parameters including the chemical nature of the nanosystem, the degree of oxygen vacancy, the interaction of the Raman reporter molecule with the surface of the NP, and the resultant formation of H-aggregates or photocatalytic degradation. The combination of MB with WO3-x, WO3-x@Ag, and WO3 created enhancement factors such as 1.6 × 103, 5.4 × 103, and 6.2 × 103, respectively. This report showed that the parameters mentioned here must be considered in detail to evaluate the photocatalytic and SERS activity of the WO3-based nanosystem.


Asunto(s)
Contaminantes Ambientales , Nanopartículas del Metal , Nanocables , Colorantes , Peróxido de Hidrógeno , Nanopartículas del Metal/química , Azul de Metileno/química , Oxígeno , Plata/química
15.
Transfus Apher Sci ; 61(6): 103469, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35672234

RESUMEN

BACKGROUND: Although indications of fresh frozen plasma (FFP) usage are limited to certain circumstances in children, there is an increasing trend towards inappropriate usage are reported in clinical practice. The aim of this study was to evaluate the appropriateness of pediatric FFP utilization in our tertiary care hospital. METHODS: This prospective observational study was conducted at a tertiary care academic pediatric hospital. All FFP orders were evaluated for appropriateness over a 4-monts period by 2 hematologists. Data collected include demographic information, diagnosis, FFP transfusion indication, pre-transfusion coagulation tests, surgical procedure or bleeding status, and transfusion reactions. RESULTS: Three hundred twenty-four patients (57 % males, 43 % females) were transfused in 987 episodes. The mean age of the patients was 5.4±5.7 years. The majority of the patients (33 %) were under 1 y of age and the products were primarily utilized by pediatric and cardiovascular intensive care units. Pre-transfusion coagulation testing was only available in 674 (68 %) of the transfusion episodes. The rate of appropriate FFP transfusion episodes was 59 % (587/987). Inappropriate usage was mostly related to sepsis and minor coagulation abnormalities without bleeding. The higher rates of inappropriate transfusion orders were observed in pediatric and neonatal intensive care units, and hematology/oncology departments. CONCLUSIONS: Inappropriate use of FFP in children remains a significant challenge. The regular audit and sustainable education programs targeting the efficient use of FFP for health professionals at the national level can improve transfusion practices.


Asunto(s)
Transfusión Sanguínea , Plasma , Masculino , Femenino , Recién Nacido , Humanos , Niño , Preescolar , Centros de Atención Terciaria , Turquía , Estudios Prospectivos , Transfusión de Componentes Sanguíneos
16.
ORL J Otorhinolaryngol Relat Spec ; 84(6): 447-452, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35661091

RESUMEN

INTRODUCTION: The aim of this study was to investigate whether N-acetylcysteine (NAC) is effective in the treatment murine model of acute rhinosinusitis in rats. MATERIALS AND METHODS: Twelve rats were included in the study. The left nasal cavity of all rats was infected with Streptococcus pneumoniae. Group 1 was the group in which NAC was administered into the left nasal cavity twice daily. Group 2 was selected as the control group. All rats were then sterilely sacrificed under anesthesia after intracardiac blood sampling. After sacrifice, sterile culture samples were collected from the posterior nasal cavity. RESULTS: Total oxidant status and oxidative stress index (OSI), interleukin 1ß, interleukin 6, and tumor necrosis factor α levels decreased significantly in the treatment group. Total antioxidant status was significantly increased. There was a statistically significant increase in total serum thiol levels and native thiol levels. Histopathologic evaluation showed a statistically significant decrease in submucosal gland hypertrophy in the treatment group. CONCLUSION: According to our study, intranasal application of NAC can decrease the inflammatory findings in murine acute rhinosinusitis.


Asunto(s)
Acetilcisteína , Antioxidantes , Ratas , Animales , Ratones , Acetilcisteína/farmacología , Antioxidantes/farmacología , Expectorantes/farmacología , Estrés Oxidativo , Compuestos de Sulfhidrilo/farmacología
17.
J Craniofac Surg ; 33(3): 882-885, 2022 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-34560741

RESUMEN

OBJECTIVE: The reshaping of the nasal tip in rhinoplasty according to the expectations of the patient and the surgeon is called tip plasty. in this article, the onlay rotated flap (ORF) is presented as a new technique for reshaping, supporting, and projecting the nasal tip without any resection or grafting. METHODS: Thirty-two patients (26 female and 6 male) were included in the study retrospectively. Primary rhinoplasty with ORF was performed to all patients. The follow-up period was between 9 and 12months. The nasal tip projection (NTP) with Goode method and nasal tip rotation (NTR) according to nasolabial angle were calculated in standardized preoperative and postoperative(6th month) photographs with image J. SPSS Version 21.0 was used for statistical analysis. RESULTS: There were no complications resulting from our procedure. There were no visible tip flaps, no distortion, no asymmetry, and no alar retraction. Revision surgery was not required in any patient. The preoperative and postoperative means of nasolabial angle (Mean ± SD) were 92.06 ±â€Š7.73° and 99.71 ±â€Š6.06°, respectively. The preoperative and postoperative means of NTP (Mean ± SD) were 0.535 ±â€Š0.041 and 0.57 ±â€Š0.386, respectively. The postoperative nasal tip rotation and NTP values of the ORF procedure were found to be statistically significantly higher than the preoperative values (P < 0.05). CONCLUSIONS: The ORF technique is another alternative for achieving adequate nasal tip definition and projection and has many advantages and very successful postoperative results. The alar retraction was not encountered in our technique and this is the superior aspect of our technique over similar methods described in the literature.


Asunto(s)
Tabique Nasal , Rinoplastia , Femenino , Humanos , Masculino , Tabique Nasal/cirugía , Nariz/cirugía , Estudios Retrospectivos , Rinoplastia/métodos , Colgajos Quirúrgicos/cirugía , Resultado del Tratamiento
18.
Int J Environ Health Res ; 32(10): 2149-2159, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34191661

RESUMEN

The steady increase in the employment of silver nanoparticles (AgNPs) in consumer products entails the determination of the aquatic toxicity of AgNPs. Various AgNP characteristics including particle size, and shape, surface charge, and material have prominent effects on ecotoxicity. In the present study, we investigated the aquatic toxicity of chemically-synthesized AgNPs (Che-AgNPs) and green synthesis AgNPs (Gr-AgNPs) to Daphnia magna as a model organism. In each case, Che-AgNPs and Gr-AgNPs showed dose-dependent toxicity in the range of 5-50 ppb. It was also detected that the size and surface coverage material of AgNPs has a significant impact on the survival rate of D. magna. We also analyzed the expression of some genes related to detoxification and the reproductive system. These observations presented that in both NP types the significant alterations were detected in genes of the model organism in a dose-dependent manner.


Asunto(s)
Nanopartículas del Metal , Contaminantes Químicos del Agua , Animales , Daphnia/metabolismo , Nanopartículas del Metal/toxicidad , Tamaño de la Partícula , Plata/metabolismo , Plata/toxicidad , Contaminantes Químicos del Agua/metabolismo , Contaminantes Químicos del Agua/toxicidad
19.
Cent Eur J Public Health ; 30(1): 37-45, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35421297

RESUMEN

OBJECTIVE: The aim of this study was to analyse the knowledge and attitudes about smoking in young people between 16-20 years of age, who were both working and attending the Vocational Education Centre. METHODS: This study was conducted with high school students at the Vocational Education Centre. The socio-demographic questionnaire and the Fagerström Test of Nicotine Dependence (FTND) were applied to the students using a face-to-face interview technique. Secondly, interactive educations on smoking-free life and smoking-related diseases were given. At last, CO (carbon monoxide) levels and respiratory functions were evaluated. RESULTS: Of the students 92.9% were males, 37.4% were 16 years, 35.8% were 17 years and 26.9% were 18-20 years old. Among 46.9% of smokers, 75.8% started smoking before 15 years of age, 86.1% were living with smokers. While 70.5% of smokers smoked more than 10 cigarettes daily, 61.3% smoked their first cigarette in the first half hour after waking up. Of the smokers, 28.8% were highly dependent, 13.0% were very highly dependent. CO levels were significantly higher in those who smoked in the workplace, who smoked mostly in the morning time, and those who started smoking at 7 years of age and younger (p < 0.05). FEV1, FVC, FEF25-75 values of morning smokers were significantly lower (p < 0.05). CONCLUSION: Unfortunately, the first smoking age was very low, the first cigarette of the day was lit in a short time after waking up, and family/friend's attitudes and behaviours were encouraging in this age group. More attention should be paid to this issue and especially new preventive projects should be implemented to protect young people from smoking.


Asunto(s)
Cese del Hábito de Fumar , Productos de Tabaco , Tabaquismo , Adolescente , Adulto , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Fumar/epidemiología , Educación Vocacional , Adulto Joven
20.
Analyst ; 146(11): 3642-3653, 2021 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-33949467

RESUMEN

This study reports the development of a highly sensitive antibiotic-based discrimination and sensor platform for the detection of Gram-positive bacteria through surface-enhanced Raman spectroscopy (SERS). Herein, a combination of gold nanorod arrays (GNAs) and colloidal gold nanoparticles (AuNPs) was used as a SERS platform. To specifically capture Gram-positive bacteria, both GNAs and AuNPs were functionalized with thiol-modified vancomycin (HS-Van) molecules. Three different strains of bacteria (Bacillus subtilis and Staphylococcus aureus as Gram-positive, and Escherichia coli as Gram-negative) were employed to test the proposed system. HS-Van functionalized GNAs (GNA@Van) captured Gram-positive bacteria with high specificity. Also, the bacteria captured by GNA@Van (GNA@Van@Bct) systems showed high signal-to-noise SERS signals with high reproducibility. Addition of AuNP@Van to GNA@Van@Bct resulted in the emergence of a sandwich system (GNA@Van@Bct@Van@AuNP). This system led to a further enhanced SERS signal. The chemometric analysis of GNA@Van@Bct@Van@AuNP enabled the obvious discrimination and detection of Gram-positive bacteria. For comparison, we also tested a smooth gold surface with the same procedure and a similar trend was observed with lower SERS activity.


Asunto(s)
Nanopartículas del Metal , Nanotubos , Oro , Reproducibilidad de los Resultados , Espectrometría Raman , Vancomicina
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