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Increasing age is associated with age-related neural dedifferentiation, a reduction in the selectivity of neural representations, which has been proposed to contribute to cognitive decline in older age. Recent findings indicate that when operationalized in terms of selectivity for different perceptual categories, age-related neural dedifferentiation and the apparent age-invariant association of neural selectivity with cognitive performance are largely restricted to the cortical regions typically recruited during scene processing. It is currently unknown whether this category-level dissociation extends to metrics of neural selectivity defined at the level of individual stimulus items. Here, we examined neural selectivity at the category and item levels using multivoxel pattern similarity analysis (PSA) of fMRI data. Healthy young and older male and female adults viewed images of objects and scenes. Some items were presented singly, while others were either repeated or followed by a "similar lure." In agreement with recent findings, category-level PSA revealed robustly lower differentiation in older than in younger adults in scene-selective, but not object-selective, cortical regions. By contrast, at the item level, robust age-related declines in neural differentiation were evident for both stimulus categories. Additionally, we identified an age-invariant association between category-level scene selectivity in the parahippocampal place area and subsequent memory performance, but no such association was evident for item-level metrics. Lastly, category- and item-level neural metrics were uncorrelated. Thus, the present findings suggest that age-related category- and item-level dedifferentiation depend on distinct neural mechanisms.
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Disfunção Cognitiva , Imageamento por Ressonância Magnética , Adulto , Masculino , Humanos , Feminino , Idoso , Cognição , Estimulação Luminosa/métodos , Mapeamento EncefálicoRESUMO
BACKGROUND: YouTube has educational videos on inhalers. However, their content and quality are not adequately known. OBJECTIVES: This study investigated the quality and content of educational YouTube videos on inhalers. METHODS: This descriptive study analyzed 178 YouTube videos on inhalers between May and July 2022. Two researchers independently evaluated the videos. The Global Quality Score (GQS), Journal of American Medical Association (JAMA) Benchmark Criteria, and Inhaler Application Checklist (IAC) were used to assess the quality and content of the videos. Spearman's correlation, Kruskal-Wallis, Mann-Whitney U, ANOVA, and Post hoc analysis Bonferroni test were used for data analysis. RESULTS: The videos had a mean GQS score of 3.70 ± 1.24, and JAMA score of 2.22 ± 0.60. A negative correlation was between the quality score of the videos and views, likes, comments, duration, and likes/views (respectively; r = -0.237 p < 0.005, r = -0.217 p < 0.003, r = -0.220 p < 0.005, r = -0.147, p < 0.005). The videos narrated by nurses and doctors had significantly higher mean JAMA and GQS scores than others (p = 0.001). The videos missed some procedural steps [gargling (29.1%), adding no more than five ml of medication and device cleaning (41.9%), and exhaling through the nose (37.5%)]. Videos uploaded by individual missed significantly more procedural steps than professional organizations (p < 0.05). CONCLUSIONS: YouTube videos about inhaler techniques have a moderate level of quality. Videos uploaded by doctors and nurses as content narrators were of higher quality. The videos missed some procedural steps. Individual video uploaders had higher missed procedural steps. Counseling should be provided to patients regarding the reliability of online information.
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Nebulizadores e Vaporizadores , Educação de Pacientes como Assunto , Mídias Sociais , Gravação em Vídeo , Humanos , Mídias Sociais/normas , Educação de Pacientes como Assunto/normas , Educação de Pacientes como Assunto/métodos , Nebulizadores e Vaporizadores/normas , Asma/tratamento farmacológico , Administração por InalaçãoRESUMO
AIMS AND OBJECTIVES: This study aims to determine the relationship between perceptions of nursing presence and intensive care experiences in adult intensive care unit patients'. BACKGROUND: Intensive care units (ICUs) are settings where patients have many negative emotions and experiences, which affect both treatment and post-discharge outcomes. The holistic presence of nurses may help patients turn their negative emotions and experiences into positive ones. DESIGN: A descriptive-correlational design was used and reported according to the STROBE checklist. METHODS: The sample consisted of 182 participants. Data were collected using a personal information form, the Glasgow Coma Scale (GCS), the Intensive Care Experience Scale (ICES), and the Presence of Nursing Scale (PONS). RESULTS: A strong positive correlation existed between total ICES and PONS scores (r = 0.889, p < 0.001). There was a strong positive correlation between PONS total score and ICES subscales (awareness of surroundings (r = 0.751, p < 0.001), frightening experiences (r = 0.770, p < 0.001), recall of experience (r = 0.774, p < 0.001), and satisfaction with care (r = 0.746, p < 0.001)). Males (ß = -0.139, p < 0.05), and patients who were university and higher education graduate (ß = 0.137, p < 0.05) had higher positive ICU experiences. It was also found length of ICU stay was correlated with ICU experiences and nursing presence. CONCLUSIONS: The more positively the patients perceive nurses, the better ICU experiences they have. Gender and education level were found determinants of adult ICU patients' experiences. ICU length of stay predicted what kind of experience patients have and how much they feel the presence of nurses. RELEVANCE TO CLINICAL PRACTICE: Nurses should make their presence felt completely and holistically by using their communication skills for patients have more positive intensive care experiences. Nurses should consider variables which affects patients' ICU experiences and nursing presence.
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Unidades de Terapia Intensiva , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Cuidados Críticos/psicologia , Satisfação do Paciente/estatística & dados numéricos , Relações Enfermeiro-Paciente , Enfermagem de Cuidados Críticos , Inquéritos e Questionários , PercepçãoRESUMO
BACKGROUND: Missed care has negative consequences for patients, directly affecting the quality of nursing care and patient safety. AIM: This study investigated the effect of missed care on the nursing image perceived by patients and their trust relationships with nurses. METHODS: This descriptive and correlational study was conducted in all inpatient wards of a hospital in southern Türkiye. The sample consisted of 200 patients. Data were collected using a patient information form, the MISSCARE Survey-Patient, the Nursing Image Scale (NIS), and the Trust in Nurses Scale (TNS). The data were analyzed using the Statistical Package for Social Sciences (for Windows 25.0). The study adhered to the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. FINDINGS: Participants had a mean MISSCARE Survey-Patient, TNS, and NIS score of 2.09 ± 0.53, 23.48 ± 5.01, and 71.52 ± 6.75, respectively. There was a moderate negative correlation between MISSCARE Survey-Patient and TNS scores. There was a weak negative correlation between MISSCARE Survey-Patient and NIS scores. Moreover, there was a strong positive correlation between NIS and TNS scores. DISCUSSION: MISSCARE Survey-Patient total scores vary due to the imbalance in the number of nurses and the complexity of their tasks. Poor quality of care and incomplete care undermine the image of nursing and negatively affect the trust relationship between patients and nurses. CONCLUSIONS: Nursing image and trust in nurses decreases as patient-nurse communication and basic care interventions are skipped. IMPLICATIONS FOR NURSING POLICY: Inadequate care can have a detrimental effect on the nursing image and erode patient-nurse trust relationships. Therefore, there is a pressing need for ongoing review and enhancement of nursing education, policy, and practice to elevate the quality of care provided. Further research utilizing objective staff measures and outcome assessments, along with gathering primary data directly from patients, is essential to substantiate the assertion that missed care significantly influences patient outcomes.
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BACKGROUND: COVID-19 causes clinical manifestations ranging from asymptomatic infection to multi-organ failure. It is reported that those with severe disease have higher anti-SARS-CoV-2 antibody titers compared to asymptomatic or mild cases. We evaluated the correlation of antibody responses with laboratory and clinical indicators in COVID-19 patients. METHODS: Seventy-nine male and 66 female patients (mean age: 39) with at least one positive SARS-CoV-2 RT-PCR test and SARS-CoV-2 IgG antibody result after acute infection were included. RESULTS: Seventy-six (52%), 45 (31%), and 24 (17%) patients had mild, moderate, and severe clinical findings, respectively. Patients with high body mass index and advanced age had significantly more severe disease (p < 0.001). A significant correlation was found between the increase in lymphopenia, C-reactive protein, ferritin, D-dimer, and lactate dehydrogenase and the severity of clinical findings (p = 0.0001). SARS-CoV-2 IgG antibody test was positive in 128 (88.3%) patients. A significant correlation was found between disease severity and antibody levels in the comparison of all groups (p < 0.001). CONCLUSIONS: Long-term monitoring of immune responses will be required to determine the appropriate time for the administration of new vaccines.
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COVID-19 , Adulto , Proteína C-Reativa , COVID-19/diagnóstico , Feminino , Ferritinas , Humanos , Imunoglobulina G , Lactato Desidrogenases , Masculino , SARS-CoV-2RESUMO
Four new Schiff base ligands carrying naphthalene groups were prepared from the reaction of 2,4-diamino-6-methyl-1,3,5-triazine and 2,4-diamino-6-undecyl-1,3,5-triazine with 2-hydroxy-1-naphthaldehyde. The influence of a series of metal ions including Cu2+, Co2+, Hg2+, Al3+, Cr3+, Fe3+, Pb2+, Ni2+, Cd2+, Zn2+, Mn2+, Ag+, Ba2+, Ca2+ and Mg2+ on the spectroscopic properties of the ligands was investigated by means of absorption and emission spectrometry. The results of spectrophotometric and spectrofluorimetric titrations disclosed the complexation stoichiometry and complex stability constant of the ligands with metal ions. A simple spectrofluorimetric method was developed using the Schiff base derived from 2,4-diamino-6-undecyl-1,3,5-triazine to determine Hg2+ ion. No cleanup or enrichment of the tap water sample was required. A modified standard addition method was used to eliminate matrix effect. The standard addition graph was linear between 0.2 and 2.6 mg/L in determination of Hg2+. Detection and quantification limits were 0.08 and 0.23 mg/L, respectively. The simple and cost-effective method can be applied to water samples.
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Primary neuroendocrine carcinoma of the kidney is a rarely observed clinical condition because neuroendocrine cells are not found in kidney parenchyma. It's not clinically and radiologically possible to distinguish from other kidney tumors. Incidence with horseshoe kidney anomaly, it should be considered as a definitive diagnosis for the patients with this condition. In this case report, we reported about a carcinoid tumor in horseshoe kidney in a 37-year-old woman.
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Tumor Carcinoide/cirurgia , Rim Fundido/cirurgia , Neoplasias Renais/cirurgia , Nefrectomia/métodos , Adulto , Tumor Carcinoide/diagnóstico , Tumor Carcinoide/patologia , Feminino , Rim Fundido/patologia , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/patologiaRESUMO
The objective of the study was to determine the inter-rater variability in assessment of laryngeal findings and whether diagnosing laryngopharyngeal reflux based on the laryngeal findings and history alone without considering allergic rhinitis leads to the overdiagnosis and overtreatment of laryngopharyngeal reflux. Patients with positive and negative skin prick tests were recruited from an allergy clinic in a tertiary teaching university hospital. All subjects completed the Reflux Symptom Index (RSI) and underwent laryngeal examinations by three physicians blinded to the skin prick test results and the Reflux Finding Score (RFS) was determined. RFS >7 or RSI >13 was considered reflux positive. Fleiss' kappa (κ) was used to measure inter-rater agreement. The inter-rater agreement was low for pseudosulcus vocalis (κ = 0.078), ventricular obliteration (κ = 0.206), diffuse laryngeal edema (κ = 0.204), and posterior laryngeal hypertrophy (κ = 0.27), intermediate for laryngeal erythema/hyperemia (κ = 0.42) and vocal fold edema (κ = 0.42), and high for thick endolaryngeal mucus (κ = 0.61). Although the frequency of allergy was high, there was no significant difference between allergy-positive and laryngopharyngeal reflux-positive patients. On logistic regression analysis, thick endolaryngeal mucus was a significant predictor of allergy (p = 0.012, odds ratio 0.264, 95 % confidence interval 0.093-0.74). The laryngeal examination for reflux is subject to marked inter-rater variability and allergic laryngitis was not misdiagnosed as laryngopharyngeal reflux. The presence of thick endolaryngeal mucus should alert physicians to the possibility of allergic rhinitis/laryngitis.
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Refluxo Laringofaríngeo/diagnóstico , Laringoscopia , Rinite Alérgica Perene/diagnóstico , Prega Vocal/patologia , Adulto , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Humanos , Edema Laríngeo/diagnóstico , Edema Laríngeo/patologia , Laringite/diagnóstico , Laringite/patologia , Refluxo Laringofaríngeo/patologia , Laringe/patologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Estudos Prospectivos , Rinite Alérgica , Rinite Alérgica Perene/patologia , Adulto JovemRESUMO
Brain death is defined as the complete and irreversible cessation of the entire brain function, including the brainstem. For the most part, the diagnosis is clinical, and ancillary testing is only needed when clinical criteria are not satisfied. Differences exist in brain death diagnosis policy in the confirmation of brain death with ancillary testing and the particular test used. Demonstration of the absence of cerebral circulation is a reliable indicator of brain death. Currently, there are no agreed-on universal criteria for ancillary imaging investigation. However, several guidelines and meta-analyses have referred to radionuclide imaging as the most reliable, accurate, and validated ancillary imaging procedure in the confirmation of brain death. Whenever available, lipophilic agents should be preferred using tomographic imaging in all or as needed. False results may occur because of slight temporal delays in flow-function interaction, and such findings may carry prognostic information. Detectable cerebral circulation in the clinical presence of brain death most probably indicates that the process of dying is not yet complete. The results of radionuclide studies may also suggest that the loss of viability in a significant proportion of brain tissue is not compatible with life.
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Morte Encefálica , Circulação Cerebrovascular , Valor Preditivo dos Testes , Morte Encefálica/diagnóstico por imagem , Humanos , Encéfalo/diagnóstico por imagem , Compostos Radiofarmacêuticos/administração & dosagem , Reprodutibilidade dos Testes , Imagem de Perfusão/métodos , PrognósticoRESUMO
Prior studies examining the neural mechanisms underlying retrieval success and precision have yielded inconsistent results. Here, their neural correlates were examined using a memory task that assessed precision for spatial location. A sample of healthy young adults underwent fMRI scanning during a single study-test cycle. At study, participants viewed a series of object images, each placed at a randomly selected location on an imaginary circle. At test, studied images were intermixed with new images and presented to the participants. The requirement was to move a cursor to the location of the studied image, guessing if necessary. Participants then signaled whether the presented image as having been studied. Memory precision was quantified as the angle between the studied location and the location selected by the participant. A precision effect was evident in the left angular gyrus, where BOLD activity covaried across trials with location accuracy. Multi-voxel pattern analysis also revealed a significant item-level reinstatement effect for high-precision trials. There was no evidence of a retrieval success effect in the angular gyrus. BOLD activity in the hippocampus was insensitive to both success and precision. These findings are partially consistent with prior evidence that success and precision are dissociable features of memory retrieval.
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OBJECTIVES: Tertiary hyperparathyroidism, characterized by autonomous overproduction of parathyroid hormone, can be seen in patients with long-standing secondary hyperparathyroidism (pretransplant) or after renal transplant (posttransplant). Parathyroid scintigraphy and ultrasonography are the most commonly used imaging procedures for the preoperative localization of abnormal parathyroid glands. We aimed to evaluate imaging findings in pretransplant and posttransplant tertiary hyperparathyroidism. MATERIALS AND METHODS: This study included 32 patients with pretransplant tertiary hyperparathyroidism and 20 patients with posttransplant tertiary hyperparathyroidism. On parathyroid scintigraphy with technetium-99m sestamibi, early-phase and latephase images were acquired. Images were evaluated for the presence and the number of active foci and the degree of uptake on the late-phase image. The existence of an autonomous gland was based on latephase retention and was scored from 0 to 2 (retention score). On ultrasonography, the criteria threshold for autonomy was the maximum length of the largest gland ≥10 mm (ultrasonography score). RESULTS: On parathyroid scintigraphy, the most commonly observed pattern in the pretransplant group was positivity in ≥3 glands, and in the posttransplant group the most commonly observed pattern was positivity in 1 to 2 glands. In pretransplant and posttransplant groups, the criteria threshold for the presence of an autonomous parathyroid gland on parathyroid scintigraphy (grade 2 retention) was met in 26 (81%) and 9 (45%) patients and on ultrasonography in 25 (78%) and 10 (50%) patients, respectively. In the whole group of patients (n = 52), correlation existed between ultrasonography score and retention score. Glandular weight was correlated with both retention score and ultrasonography score. CONCLUSIONS: Higher numbers of detectable glands and the presence of parathyroid autonomy were more common in the pretransplant group. This might be explained by parathyroid gland involution after transplant. The results may also suggest that factors other than autonomy are responsible for posttransplant tertiary hyperparathyroidism.
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Hiperparatireoidismo Secundário , Glândulas Paratireoides , Humanos , Glândulas Paratireoides/diagnóstico por imagem , Hiperparatireoidismo Secundário/diagnóstico por imagem , Hiperparatireoidismo Secundário/etiologia , Tecnécio Tc 99m Sestamibi , Cintilografia , Ultrassonografia/métodos , Compostos RadiofarmacêuticosRESUMO
OBJECTIVES: Secondary hyperparathyroidism (sHPT) is a compensatory complication of chronic kidney disease. The aim of this study was to compare PS findings in pediatric and adult patients with sHPT. METHODS: This study included 50 pediatric and 50 adult patients with sHPT. Parathyroid scintigraphy was performed with Tc-99m sestamibi. After radiopharmaceutical injection, early-phase (15 min) and late-phase (60-90 min) images were acquired. Planar images were interpreted visually for the presence / number of active foci compatible with a parathyroid lesion, the presence and degree of uptake in skeletal structures, and the degree of thyroid sestamibi uptake. Parathyroid surgery was performed in 21 pediatric and 28 adult patients. RESULTS: Serum PTH and ALP values were significantly higher in pediatric than in adult patients ( P < 0.05 for each). In operated patients, on a lesion-based analysis, the sensitivity of PS in pediatric and adult patients were 40% and 71%, respectively. A nonlocalizing scan was observed in 24% of pediatric patients. Pediatric patients had a higher incidence of reduced thyroid sestamibi uptake (42% versus 2%). Skeletal sestamibi uptake was detected in 40% of pediatric and 30% of adult patients and the degree of uptake was higher in pediatric patients. CONCLUSIONS: The results revealed more significant changes in the biochemical profile of pediatric compared with adult patients with sHPT. The sensitivity of PS was lower, and the likelihood of a nonlocalizing scan was higher in pediatric patients. The results may also suggest more severe skeletal findings in pediatric patients. Reduced thyroid sestamibi uptake in children needs further evaluation.
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Hiperparatireoidismo Secundário , Humanos , Adulto , Criança , Hiperparatireoidismo Secundário/diagnóstico por imagem , Hiperparatireoidismo Secundário/patologia , Hiperparatireoidismo Secundário/cirurgia , Cintilografia , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/patologia , Tecnécio Tc 99m Sestamibi , Compostos Radiofarmacêuticos , Compostos de Organotecnécio , Nitrilas , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Studies have shown that serum uric acid levels and uric acid-related ratios, such as uric acid-to-albumin ratio (UAR), uric acid-to-creatinine ratio (UCR), uric acid-to-high-density lipoprotein cholesterol (HDL cholesterol) ratio (UHR), and uric acid-to-lymphocyte ratio (ULR), are associated with various diseases and their complications, and that these ratios can be used as biomarkers. In the current study, we aimed to investigate uric acid levels in obese adolescents and the relationship of uric acid-related ratios with insulin resistance and obesity for the first time in the literature. METHODS: A total of 100 adolescents (60 obese and 40 healthy) aged 10-17 years were retrospectively included. Participants were assigned to two groups: the obese group and the healthy control group. Obesity was defined as a body mass index (BMI) >the 95th percentile for age and gender. Demographic and laboratory data (serum glucose, urea, creatinine, uric acid, albumin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), C-reactive protein (CRP), total cholesterol, triglyceride, HDL cholesterol, thyroid-stimulating hormone (TSH), free T4 (fT4), insulin levels, and complete blood count) were obtained from the laboratory information management system. A homeostatic model of assessment for insulin resistance (HOMA-IR), low-density lipoprotein cholesterol (LDL cholesterol), and uric acid-related ratios were calculated. RESULTS: Uric acid, UAR, UCR, and UHR levels of obese adolescents were significantly higher than the healthy group (p < 0.05). We found that HOMA-IR was positively correlated with uric acid, UAR, and UHR. No correlation was found between BMI and uric acid or uric acid-related ratios. We did not find any difference between the two groups in terms of ULR levels, and we did not find any correlation between BMI and HOMA-IR. CONCLUSION: High levels of serum uric acid, UAR, UCR, and UHR were associated with obesity. Furthermore, we found that uric acid, UAR, and UHR were positively correlated with insulin resistance.
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Increasing age is associated with age-related neural dedifferentiation, a reduction in the selectivity of neural representations which has been proposed to contribute to cognitive decline in older age. Recent findings indicate that when operationalized in terms of selectivity for different perceptual categories, age-related neural dedifferentiation, and the apparent age-invariant association of neural selectivity with cognitive performance, are largely restricted to the cortical regions typically recruited during scene processing. It is currently unknown whether this category-level dissociation extends to metrics of neural selectivity defined at the level of individual stimulus items. Here, we examined neural selectivity at the category and item levels using multivoxel pattern similarity analysis (PSA) of fMRI data. Healthy young and older male and female adults viewed images of objects and scenes. Some items were presented singly, while others were either repeated or followed by a 'similar lure'. Consistent with recent findings, category-level PSA revealed robustly lower differentiation in older than younger adults in scene-selective, but not object-selective, cortical regions. By contrast, at the item level, robust age-related declines in neural differentiation were evident for both stimulus categories. Moreover, we identified an age-invariant association between category-level scene-selectivity in the parahippocampal place area and subsequent memory performance, but no such association was evident for item-level metrics. Lastly, category and item-level neural metrics were uncorrelated. Thus, the present findings suggest that age-related category- and item-level dedifferentiation depend on distinct neural mechanisms.
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Background: Monitoring the longevity of immunoglobulin G (IgG) responses following severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections is vital to understanding the role of antibodies in preventing infection. Aims: To determine the quantitative IgG responses specific to the Spike-S1 (S1) receptor-binding domain (S1/RBD) region of the virus in serum samples taken between 4 weeks and 7 months after polymerase chain reaction (PCR) positivity in patients who are diagnosed with coronavirus disease-2019 (COVID-19). Study Design: A longitudinal study. Methods: This study included 113 patients with a clinical and molecular diagnosis of COVID-19. The first and second serum samples were taken 1 and 7 months, respectively, after the PCR positivity. S1/RBD-specific IgG antibody response was assayed using anti-SARS-CoV- 2 QuantiVac ELISA (IgG) kit (Euroimmun, Lübeck, Germany). The neutralizing antibodies were investigated in 57 patients whose IgG test results were above the cut-off value. Results: In 57 patients with SARS-CoV-2 IgG, the anti-SARS-CoV-2 IgG quantitative antibody levels significantly decreased after 7 months (Z = −2.197, p = 0.028). A correlation was detected between the anti-SARS-CoV-2 IgG and nAb percent inhibition (IH%) levels detected in 1 month (rs = 0.496, p < 0.001), but without significant correlation in serum samples taken on 7 months. The nAb IH% levels of the first and second were compared for COVID-19 severity and revealed no statistical difference (p = 0.256). In the second serum sample, the nAb IH%s of patients with moderate COVID-19 showed a statistically significant difference from patients with mild COVID-19 (p = 0.018), but without significant differences between severe and moderate or mild COVID-19. Conclusion: SARS-CoV-2 quantitative IgG antibody titers are significantly reduced at long-term follow-up (> 6 months). Due to the limited information on seroconversion, comprehensive studies should be conducted for long-term follow-up of the immune response against SARS-CoV-2.
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COVID-19 , Anticorpos Neutralizantes , Anticorpos Antivirais , Humanos , Imunoglobulina G , Estudos Longitudinais , SARS-CoV-2RESUMO
In the cblF defect of vitamin B(12) (cobalamin) metabolism, cobalamin is trapped in lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for methionine synthase and methylmalonyl-coenzyme A (CoA) mutase are deficient. We recently identified LMBRD1 as the causative gene located on chromosome 6q13 and showed that 18 out of 24 alleles in unrelated patients carried the deletion c.1056delG (p.L352fsX18) (Rutsch et al. (Nat Genet 41:234-239, 2009). LMBRD1 encodes the lysosomal membrane protein LMBD1, which presumably facilitates lysosomal cobalamin export. Our patient is the second child of consanguineous Turkish parents. He presented on the second day of life with cerebral seizures due to intraventricular hemorrhage. Plasma homocysteine and urinary methylmalonic acid levels were elevated, and serum cobalamin level was decreased. Synthesis of both cobalamin coenzymes was deficient in cultured skin fibroblasts. The cblF defect was confirmed by somatic complementation analysis. Sequencing of LMBRD1 revealed the novel deletion c.1405delG (p.D469fsX38) on both alleles. Real-time polymerase chain reaction (PCR) revealed reduced messenger RNA (mRNA) levels in patient fibroblasts compared with controls. Transfection of patient fibroblasts with the LMBD1 wild-type complement DNA (cDNA) rescued coenzyme synthesis and function, confirming this new deletion as an additional cause of the cblF defect. This case adds to the spectrum of clinical presentations and mutations of this rare disorder of lysosomal transport.
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Mutação , Proteínas de Transporte Nucleocitoplasmático/genética , Vitamina B 12/metabolismo , 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo , Alelos , Feminino , Fibroblastos/metabolismo , Homocisteína/sangue , Humanos , Lisossomos/metabolismo , Masculino , Ácido Metilmalônico/urina , Metilmalonil-CoA Mutase/genética , Turquia , Vitamina B 12/sangueRESUMO
The exact mechanism of bronchial hyperresponsiveness (BHR) is not clear in allergic rhinitis (AR); an increase of BHR in pollen season suggests that natural pollen exposure causes airway inflammation in seasonal AR (SAR). This study was designed to investigate the effects of natural pollen exposure on inflammatory cytokines and their relationship with BHR. Sixty-six SAR patients with grass pollen sensitivity and 26 nonallergic rhinitis (NAR) patients were included. Peripheral blood samples for cytokine levels were taken and a nonspecific bronchial provocation test was performed during pollen season between May and August. The same measurements were repeated off-season between November and February. These measurements were done in NAR patients once. During the pollen season, SAR patients had significantly more increased levels of IL-13 than NAR patients (11.45 +/- 12.54 versus 5.19 +/- 4.02; p = 0.005). Blood eosinophil numbers were higher in those patients with BHR during pollen season than those without BHR (399.0 +/- 255.8 versus 278.9 +/- 193.2 mm(-3); p = 0.046). Blood eosinophil numbers during off-season were not different in those with and without BHR (respectively, 261.4 +/- 202.3 mm(-3) versus 205.9 +/- 116.9 mm(-3); p = 0.53). IL-10 levels were higher in the patients without BHR (n = 28) than those patients with BHR (n = 22) during off-season (8.12 +/- 13.1 versus 3.28 +/- 0.37; p = 0.04). Having higher levels of IL-10 than threshold value was more frequent in SAR patients without BHR than those patients with BHR during off-season (7/28 versus 1/22; chi(2) = 4.34; p = 0.04). IL-10 has a role in the continuation of BHR during off-season in SAR patients.
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Antígenos de Plantas/efeitos adversos , Hiper-Reatividade Brônquica , Pólen/efeitos adversos , Rinite Alérgica Sazonal/imunologia , Rinite Alérgica Sazonal/fisiopatologia , Adulto , Testes de Provocação Brônquica , Humanos , Mediadores da Inflamação/sangue , Mediadores da Inflamação/imunologia , Interleucina-10/sangue , Interleucina-10/imunologia , Interleucina-13/sangue , Interleucina-13/imunologia , Masculino , Pessoa de Meia-Idade , Obstrução Nasal , Poaceae , Rinite Alérgica Sazonal/sangue , Rinite Alérgica Sazonal/diagnóstico , Estações do AnoRESUMO
OBJECTIVES: Direct radionuclide cystography (DRC) with cyclic imaging is a sensitive method used for the detection of vesicoureteral reflux (VUR). Radionuclide cystography is generally recommended for follow-up evaluation of VUR. The aim of this study was to evaluate cyclic DRC with DMSA scan results during the follow-up period in children with a prior diagnosis of VUR. PATIENTS AND METHODS: DRC findings of 85 children with VUR were evaluated together with DMSA findings during follow-up. VUR grade was classified anatomically as grades I, II, and III reflux. Reflux grades of II and III were regarded as high-grade reflux. Reflux was also graded functionally as transient and continuous on the basis of the presence of reflux on either filling or voiding phases (transient) or both phases (continuous) of at least one cycle. RESULTS: Among 85 children, 32 (38%) exhibited reflux. In five patients, reflux was observed on both sides, and a total of 37 refluxing units (RUs) were evaluated. According to the highest grade attained in either cycle, 31 (84%) units had grade II, five had grade I and one had grade III reflux. Reflux was continuous in 23 (62%) and transient in 14 (38%) RUs. The incidence of an abnormal scan result was higher in continuous reflux group (78%) than in high-grade anatomic reflux group (59%). The addition of a second cycle resulted in the diagnosis of continuous reflux in six (26%) more RUs. DMSA scan findings correlated significantly with functional reflux classification (P<0.05), but not with anatomic reflux classification (P>0.05). CONCLUSION: Functional classification of VUR into continuous and transient reflux resulted in higher correlation with DMSA scan findings compared with anatomic reflux grading in follow-up patients with VUR. Cyclic imaging contributed to continuous reflux diagnosis. The significance of functional information obtained from cyclic DRC in initial diagnostic workup, management, and follow-up of children with urinary tract infection needs to be determined with further studies.
Assuntos
Cistografia , Ácido Dimercaptossuccínico Tecnécio Tc 99m , Refluxo Vesicoureteral/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVES: Owing to ineffective iodine removal, radioiodine dose reduction was recommended in thyroid cancer patients with chronic renal failure. In this study, the radioiodine biodistribution pattern on posttherapy scans in patients with normal renal function and those with chronic renal failure is outlined. METHODS: This study included 10 thyroid cancer patients with chronic renal failure (five females, five males; mean age: 43+/-12.9) and 20 control participants (16 females, four males; mean age: 43.5+/-8.2) with normal renal function. Radioiodine doses used for ablation ranged between 1110 and 3700 MBq in the patient group and between 3700 and 5550 MBq in the control group. Whole-body imaging was performed on day 7 after radioiodine administration. Scans were inspected with regard to oral, nasal, salivary gland, hepatic, mammary, and gastrointestinal uptake patterns. RESULTS: Mild-to-significant liver uptake was present in all patients in the control group, whereas none exhibited gastric uptake. Mild salivary gland, oral or nasal activity was present in a small percentage of patients in the control group. Out of 10 patients with renal failure, eight had salivary gland, nine had gastric, eight had oral uptake linear in pattern that was unresponsive to mouth wash and all had nasal uptake. Six patients reported persistent xerostomia after treatment. Mammary uptake was present in three female patients. Hepatic uptake was faintly visible only in one patient. CONCLUSION: Patients with chronic renal failure exhibited significant salivary gland, oral, nasal, and gastric activity 1 week after radioiodine administration. The linear pattern of oral activity unresponsive to rinsing and persistence of gastric activity for 1 week might suggest adsorption of radioiodine to mucosal cells. Salivary gland dysfunction and the risk of second primary malignancy in iodine-concentrating organs appear as important indications for radioiodine dose reduction in this patient group.
Assuntos
Radioisótopos do Iodo/farmacocinética , Falência Renal Crônica/diagnóstico por imagem , Compostos Radiofarmacêuticos/farmacocinética , Glândulas Salivares/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Radioisótopos do Iodo/administração & dosagem , Radioisótopos do Iodo/uso terapêutico , Falência Renal Crônica/complicações , Fígado/diagnóstico por imagem , Masculino , Glândulas Mamárias Humanas/diagnóstico por imagem , Pessoa de Meia-Idade , Cintilografia , Compostos Radiofarmacêuticos/administração & dosagem , Compostos Radiofarmacêuticos/uso terapêutico , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/radioterapia , Distribuição Tecidual , Imagem Corporal TotalRESUMO
OBJECTIVE: The aim of this study was to evaluate the efficacy of dual-phase 99mTc-methoxyisobutylnitrile (MIBI) parathyroid scintigraphy (PS) and ultrasound (US) in primary (pHPT) and secondary (sHPT) hyperparathyroidism. METHODS: A total of 69 patients (mean age 47+/-16; age range 14-79 years), including 19 patients with sHPT were enrolled in this study. Preoperative serum intact parathyroid hormone (iPTH) levels, calcium (Ca), phosphate (P), alkaline phosphatase, and 24-h urinary-free Ca measurements were obtained. Concomitant thyroid pathology was also recorded. RESULTS: Histopathology revealed 30 solitary adenomas and 71 hyperplastic glands in 55 patients. The remaining patients' histopathology revealed normal parathyroid, thyroid, or lymph nodes. The sensitivities of MIBI and US in pHPT were 70% and 60%, respectively. It was 60% for both procedures in sHPT. The overall sensitivity of combined US + MIBI in pHPT and sHPT was 81% and 71%, respectively. The overall specificity of MIBI and US was 87% and 91%; positive predictive value (PPV) was 94% and 92%, respectively. MIBI and US identified the parathyroid pathology in 92% and 85% of patients in the non-concomitant thyroid disease group, and in 53% and 47% of patients in the concomitancy thyroid disease group, respectively. The weight of the gland between primary and secondary hyperparathyroidism did not reveal a significant difference (P=0.4). Significant differences were found with respect to age, PTH, Ca, and P levels between the pHPT and sHPT (P<0.001). Intact PTH levels showed significant differences between MIBI positive and negative patients (P=0.013), and also US positive and negative patients (P=0.012). A significant negative correlation was found between iPTH and Ca at sHPT (P<0.001). CONCLUSIONS: The concomitant of thyroid disease greatly influences scintigraphic and ultrasonographic detection of parathyroid pathology in pHPT and sHPT. The combination of MIBI and US appears promising for localizing parathyroid pathology in patients with both primary and secondary hyperparathyroidism. The concordance rate is high together with a lower chance of missing concomitant thyroid pathology, which might alter the surgical approach.