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1.
Sleep Breath ; 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38637352

RESUMO

PURPOSE: The aim of this study was to clarify an association between short sleep duration and smoking initiation. METHODS: Participants eligible for this retrospective cohort study were university students who were admitted to a single national university in Japan between 2007 and 2015. Baseline sleep duration and smoking status were measured using general questionnaires at health checkups at admission. During a 6-year observation period, smoking initiation was assessed using general questionnaires at annual health checkups. Cox proportional hazards models adjusted for clinically relevant factors were used to assess the association between sleep duration and smoking initiation. RESULTS: Of 17,493 men, including 540, 5,568, 8,458, 2,507, and 420 men with sleep duration of < 5, 5-6, 6-7, 7-8, and ≥ 8 h, respectively, smoking initiation was observed in 16.1%, 12.5%, 11.2%, 10.0%, and 11.7%, respectively, during a median observation period of 3.0 years. Men with shorter sleep duration were at a higher risk of smoking initiation (adjusted hazard ratio 1.49 [95% confidence interval 1.19-1.85], 1.11 [1.01-1.22], 1.00 [reference], 0.92 [0.80-1.06], and 1.00 [0.75-1.34], respectively). Of 8,880 women, including 267, 3,163, 4,220, and 1,230 women with sleep duration of < 5, 5-6, 6-7, and ≥ 7 h, respectively, smoking initiation was observed in 4.9%, 2.3%, 2.0%, and 2.2%, respectively, during a median observation period of 3.0 years. A similar dose dependent association was ascertained in women (2.50 [1.39-4.49], 1.18 [0.86-1.62], 1.00 [reference], and 1.22 [0.79-1.89], respectively). CONCLUSION: This study clarified that university students with short sleep duration were vulnerable to smoking initiation.

2.
Comput Struct Biotechnol J ; 23: 859-869, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38356658

RESUMO

Accurately identifying neoantigens is crucial for developing effective cancer vaccines and improving tumor immunotherapy. Mass spectrometry-based immunopeptidomics has emerged as a promising approach to identifying human leukocyte antigen (HLA) peptides presented on the surface of cancer cells, but false-positive identifications remain a significant challenge. In this study, liquid chromatography-tandem mass spectrometry-based proteomics and next-generation sequencing were utilized to identify HLA-presenting neoantigenic peptides resulting from non-synonymous single nucleotide variations in tumor tissues from 18 patients with renal cell carcinoma or pancreatic cancer. Machine learning was utilized to evaluate Mascot identifications through the prediction of MS/MS spectral consistency, and four descriptors for each candidate sequence: the max Mascot ion score, predicted HLA binding affinity, aliphatic index and retention time deviation, were selected as important features in filtering out identifications with inadequate fragmentation consistency. This suggests that incorporating rescoring filters based on peptide physicochemical characteristics could enhance the identification rate of MS-based immunopeptidomics compared to the traditional Mascot approach predominantly used for proteomics, indicating the potential for optimizing neoantigen identification pipelines as well as clinical applications.

3.
J Hypertens ; 42(4): 694-700, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38088418

RESUMO

OBJECTIVE: This study aimed to identify the factors influencing home blood pressure measurement (HBPM) continuation in community-dwelling older adults. METHODS: A longitudinal analysis used the NOSE study intervention group datasets. The participants were encouraged HBPM with self-monitoring devices provided to them twice in the morning and twice in the evening. Every 7-day interval from the HBPM start date was defined as 1 week, and the number of HBPMs per week was counted. The first week in which the number of HBPMs was zero was defined as the week in which HBPM was discontinued. Participants who did not experienced discontinuation until the end of the observation period were considered complete survivors in the survival time analysis. RESULTS: Data from 437 participants were included in the analysis. Of these, 120 (27.5%) discontinued HBPM. In univariate analysis, factors significantly associated with HBPM discontinuation included exercise habits [hazard ratio per one unit 0.47; 95% confidence interval (CI) 0.31-0.69], social participation (hazard ratio 0.65; 95% CI 0.42-0.99), MoCA-J score (hazard ratio 0.94; 95% CI 0.90-0.98), and frailty (hazard ratio 5.20; 95% CI 2.87-9.43). In multivariate analysis, factors significantly associated with HBPM discontinuation included sex (hazard ratio 0.55; 95% CI 0.32-0.95; ref. = female individuals), smoking history (hazard ratio 1.69; 95% CI 1.02-2.80), exercise habits (hazard ratio 0.51; 95% CI 0.30-0.85), MoCA-J score (hazard ratio 0.93; 95% CI 0.88-0.98), and frailty (hazard ratio 3.31; 95% CI 1.50-7.29). CONCLUSION: Among community-dwelling older adults, female sex, smoking history, lack of exercise, cognitive decline, and frailty were identified as factors influencing HBPM discontinuation.


Assuntos
Fragilidade , Hipertensão , Humanos , Feminino , Idoso , Pressão Sanguínea/fisiologia , Monitorização Ambulatorial da Pressão Arterial , Fragilidade/complicações , Vida Independente
4.
PLoS One ; 18(12): e0295235, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38091297

RESUMO

BACKGROUND: The present study investigated lifestyle risk factors from metabolic syndrome-related lifestyles for a rapid decline in the estimated glomerular filtration rate (eGFR) among adults aged 40-74 years with treated and untreated type 2 diabetes. METHODS AND RESULTS: This study analyzed data from the National Database of Health Insurance Claims and Specific Health Checkups of Japan, encompassing the period from fiscal year (FY) 2017 to FY2020. We established FY2018 as our baseline year. The subjects of this study were adults aged 40-74 in FY2018(baseline) who had type 2 diabetes and underwent specific health checkups in FY2020. We excluded adults with a medical record of kidney dialysis between FY2017 and FY2018, records of suspected type 1 diabetes between FY2017 and FY2020, or a baseline eGFR >85 mL/min/1.73 m2 or missing eGFR data as of FY2020. Eventually we analyzed 573,860 individuals. The outcome variable was a rapid decline in eGFR (≥30%) during the follow-up. Exposure lifestyle factors included skipping breakfast, late-night dinners, regular smoking, a high alcohol intake, non-refreshing sleep, and a lack of habitual exercise. Logistic regression models were stratified by age (40-59 and 60-74 years) and baseline eGFR levels (60-85, 30-59, and <30 mL/min/1.73 m2). Covariates included sex, a history of heart disease, a history of stroke, a history of renal failure, anemia, low-density lipoprotein, systolic blood pressure, hemoglobin A1C, body mass index, antidiabetic medications, antihypertension drugs, lipid-lowering drugs, the oral adsorbent Kremezin, non-steroidal anti-inflammatory drugs, and drugs for the treatment of renal anemia. A rapid decline in eGFR was detected in approximately 1.3% of participants (7,683 cases). In the baseline eGFR >30 subgroups (60-85 or 30-59 mL/min/1.73 m2), skipping breakfast and regular smoking were associated with a rapid decline in eGFR in both age groups, while a lack of habitual exercise and late-night dinners in the 60-74 age group and non-refreshing sleep in the 40-59 age group were identified as risk factors. Additionally, skipping breakfast was a risk factor for a rapid decline in eGFR in the 60-74 age group regardless of baseline eGFR levels. In the baseline eGFR <30 mL/min/1.73 m2 subgroup, skipping breakfast and non-refreshed sleep were risk factors for a rapid decline in eGFR. CONCLUSIONS: We found specific lifestyle risk factors were associated with a rapid eGFR decline among people with type 2 diabetes from a nationwide database in Japan. The associations varied by baseline eGFR level, age, and sex. Lifestyle modifications may effectively prevent the aggravation of diabetic kidney disease.


Assuntos
Anemia , Diabetes Mellitus Tipo 2 , Insuficiência Renal Crônica , Humanos , Idoso , Pessoa de Meia-Idade , Adulto , Taxa de Filtração Glomerular/fisiologia , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Fumar , Japão/epidemiologia , Fatores de Risco , Anemia/complicações , Estilo de Vida , Progressão da Doença
5.
Front Cell Dev Biol ; 11: 1242152, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37941897

RESUMO

Background: Glycoprotein non-metastatic melanoma protein B (GPNMB) is expressed in macrophages during recovery from acute liver injury (ALI) in carbon tetrachloride (CCl4)-induced liver injury model mice. In this retrospective study, we assessed whether GPNMB levels in the serum and injured liver correlate with liver injury severity and prognosis in patients with ALI or acute liver failure (ALF). Methods: The study involved 56 patients with ALI or ALF who visited the Kagoshima University Hospital. Serum GPNMB level was measured over time, and the localization, proportion, origin, and phenotype of GPNMB-expressing cells in the injured liver were assessed. Finally, the phenotypes of human monocyte-derived macrophages and peripheral blood mononuclear cells (PBMCs) of patients with ALI and ALF were analyzed. Results: Peak GPNMB levels were significantly higher in patients with ALF and hepatic encephalopathy (HE), as well as in those who underwent liver transplantation or died, than in others. The peak GPNMB level correlated with prothrombin activity, prothrombin time-international normalized ratio, Model for End-stage Liver Disease score, and serum hepatocyte growth factor level. GPNMB was expressed in CD68-positive macrophages, and its level increased with the severity of liver injury. The macrophages showed the same polarization as M2c macrophages induced with interleukin-10 from human monocytes. Moreover, PBMCs from patients with ALF exhibited an immunosuppressive phenotype. Conclusion: We found that GPNMB levels in the serum and injured liver, which increased in patients with ALF, especially in those with HE, correlated with the severity of liver injury and prognosis of ALI and ALF. Moreover, GPNMB-positive macrophages exhibited the M2c phenotype. Our results indicate that persistently high GPNMB levels may be a prognostic marker in patients with ALI and ALF.

6.
Cancers (Basel) ; 15(17)2023 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-37686510

RESUMO

It has been reported that high intensity in the hepatobiliary (HB) phase of Gd-EOB-DTPA-enhanced MRI (EOB-MRI) is associated with an immune-cold microenvironment in HCC. The aim of this study is to reveal whether non-high-intensity HCCs are homogeneous with respect to the immune microenvironment and to investigate the predictive ability of EOB-MRI for the response to atezolizumab + bevacizumab therapy (Atezo/Bev). The association between differences in stepwise signal intensity of HB phase and molecular subtypes and somatic mutations associated with the immune microenvironment was investigated in 65 HCC patients (cohort 1). The association between EOB-MRI and the therapeutic effect of Atezo/Bev was evaluated in the Atezo/Bev cohort (60 patients in cohort 2). The proportion of HCCs having CTNNB1 mutations and classified as Chiang CTNNB1 and Hoshida S3 was high in the high-intensity HB-phase group. Infiltration of tumor-associated macrophages (TAM) and regulatory T-lymphocytes (Treg) was characteristic of the high-intensity and low-intensity groups, respectively. Although EOB-MRI could not predict the response to Atezo/Bev treatment, our results demonstrate that EOB-MRI could serve as a surrogate marker predicting the immune microenvironment. This suggests that Atezo/Bev treatment can be selected regardless of signal intensity in the EOB-MRI HB phase.

7.
Sci Rep ; 13(1): 3603, 2023 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-36869102

RESUMO

Deep learning-based spectral CT imaging (DL-SCTI) is a novel type of fast kilovolt-switching dual-energy CT equipped with a cascaded deep-learning reconstruction which completes the views missing in the sinogram space and improves the image quality in the image space because it uses deep convolutional neural networks trained on fully sampled dual-energy data acquired via dual kV rotations. We investigated the clinical utility of iodine maps generated from DL-SCTI scans for assessing hepatocellular carcinoma (HCC). In the clinical study, dynamic DL-SCTI scans (tube voltage 135 and 80 kV) were acquired in 52 patients with hypervascular HCCs whose vascularity was confirmed by CT during hepatic arteriography. Virtual monochromatic 70 keV images served as the reference images. Iodine maps were reconstructed using three-material decomposition (fat, healthy liver tissue, iodine). A radiologist calculated the contrast-to-noise ratio (CNR) during the hepatic arterial phase (CNRa) and the equilibrium phase (CNRe). In the phantom study, DL-SCTI scans (tube voltage 135 and 80 kV) were acquired to assess the accuracy of iodine maps; the iodine concentration was known. The CNRa was significantly higher on the iodine maps than on 70 keV images (p < 0.01). The CNRe was significantly higher on 70 keV images than on iodine maps (p < 0.01). The estimated iodine concentration derived from DL-SCTI scans in the phantom study was highly correlated with the known iodine concentration. It was underestimated in small-diameter modules and in large-diameter modules with an iodine concentration of less than 2.0 mgI/ml. Iodine maps generated from DL-SCTI scans can improve the CNR for HCCs during hepatic arterial phase but not during equilibrium phase in comparison with virtual monochromatic 70 keV images. Also, when the lesion is small or the iodine concentration is low, iodine quantification may result in underestimation.


Assuntos
Carcinoma Hepatocelular , Aprendizado Profundo , Iodo , Neoplasias Hepáticas , Humanos , Tomografia Computadorizada por Raios X
8.
Int J Hematol ; 118(3): 388-393, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36930401

RESUMO

8p11 myeloproliferative syndrome is a rare hematological malignancy caused by the translocation of FGFR1. Patients present with a myeloproliferative neoplasm that frequently transforms into acute myeloid leukemia or T-lymphoblastic lymphoma/leukemia. Here, we report a molecular study of a patient with 8p11 myeloproliferative syndrome who developed acute B-lymphoblastic leukemia and then transformed to mixed-phenotype acute leukemia. A 67-year-old woman was diagnosed with a myeloproliferative neoplasm with t(6;8)(q27;p12) and was monitored for polycythemia vera. Four years later, she developed acute B-lymphoblastic leukemia with an additional chromosomal abnormality of - 7. Despite two induction regimens, she failed to achieve complete remission, and leukemia transformed into mixed-phenotype leukemia. Targeted sequencing of serial bone marrow samples identified the RUNX1 L144R mutation upon transformation to B-cell leukemia. After those two induction regimens, some RUNX1 mutation-positive leukemic cells obtained the JAK2 V617F mutation, which was associated with the emergence of myeloid markers, including myeloperoxidase.


Assuntos
Leucemia Mieloide Aguda , Transtornos Mieloproliferativos , Leucemia-Linfoma Linfoblástico de Células Precursoras B , Leucemia-Linfoma Linfoblástico de Células Precursoras , Feminino , Humanos , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Leucemia Mieloide Aguda/genética , Translocação Genética
9.
Magn Reson Med Sci ; 22(2): 241-252, 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35650028

RESUMO

PURPOSE: The wavelet denoising with geometry factor weighting (g-denoising) method can reduce the image noise by adapting to spatially varying noise levels induced by parallel imaging. The aim of this study was to investigate the clinical applicability of g-denoising on hepatobiliary-phase (HBP) images with gadoxetic acid. METHODS: We subjected 53 patients suspected of harboring hepatic neoplastic lesions to gadoxetic acid-enhanced HBP imaging with and without g-denoising (g+HBP and g-HBP). The matrix size was reduced for g+HBP images to avoid prolonging the scanning time. Two radiologists calculated the SNR, the portal vein-, and paraspinal muscle contrast-to-noise ratio (CNR) relative to the hepatic parenchyma (liver-to-portal vein- and liver-to-muscle CNR). Two other radiologists independently graded the sharpness of the liver edge, the visibility of intrahepatic vessels, the image noise, the homogeneity of liver parenchyma, and the overall image quality using a 5-point scale. Differences between g-HBP and g+HBP images were determined with the two-sided Wilcoxon signed-rank test. RESULTS: The liver-to-portal- and liver-to-muscle CNR and the SNR were significantly higher on g+HBP- than g-HBP images (P < 0.01), as was the qualitative score for the image noise, homogeneity of liver parenchyma, and overall image quality (P < 0.01). Although there were no significant differences in the scores for the sharpness of the liver edge or the score assigned for the visibility of intrahepatic vessels (P = 0.05, 0.43), with g+HBP the score was lower in three patients for the sharpness of the liver edge and in six patients for the visibility of intrahepatic vessels. CONCLUSION: At gadoxetic acid-enhanced HBP imaging, g-denoising yielded a better image quality than conventional HBP imaging although the anatomic details may be degraded.


Assuntos
Meios de Contraste , Neoplasias Hepáticas , Humanos , Gadolínio DTPA , Fígado/diagnóstico por imagem , Fígado/patologia , Imageamento por Ressonância Magnética/métodos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Estudos Retrospectivos
10.
Front Psychiatry ; 14: 1162833, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38250271

RESUMO

Introduction: The incidence of autism spectrum disorder (ASD) in children is greater than 1%. Children with ASD show an increased rate of hospital contact for several reasons. Perioperative preparation for children with ASD can be challenging; therefore, obtaining information from patients' families prior to surgery is important. However, no previous reports have described the collection of information from educational facilities. Case report: A 12 years-old male patient with ASD was referred for surgery for traumatic dislocation of the left knee joint. Before admission, we obtained valuable information from his parents regarding expected behavioral problems and coping strategies during hospitalization and from his teachers at his school for special needs education. In particular, the information obtained from teachers was specific and practical. Consequently, we could effectively conduct perioperative management based on his specific autistic characteristics. Conclusion: We report a pediatric case of ASD in which favorable perioperative management was successfully achieved by collecting information before admission from family members as well as teachers at the patient's school for special needs education. This management may help in future hospital admissions for children with autism.

11.
Diagnostics (Basel) ; 12(9)2022 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-36140547

RESUMO

Fibrous dysplasia (FD) is a fibrous lesion of immature bone, with an incidence of 10-20% in the head and neck region. Most cases are monostotic, but when a lesion occurs on the maxillofacial region and spreads to the surrounding bone, it is classified as polyostotic, despite its localized occurrence. In some cases, surgical intervention is required to improve the cosmetic or functional disturbance of a FD in the maxillofacial region, but it is necessary to confirm symmetry of the maxillofacial region in real time, and a surgical support system is required to compensate. Furthermore, prosthetic intervention is considered when postoperative acquired defects occur or further cosmetic or occlusal function improvement is needed. A comprehensive approach by an oral surgeon and a maxillofacial prosthodontist is necessary for the successful treatment and rehabilitation of such patients. In this article, we describe the case of a craniomaxillofacial FD patient with facial asymmetry and denture incompatibility with improved quality of life measures by integrating surgical treatment using a navigation system and postoperative prosthetic rehabilitation. We also discuss recent diagnostic methods and treatment strategies for craniomaxillofacial FD in the literature.

12.
Leuk Res Rep ; 17: 100305, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35371915

RESUMO

A 65-year-old man with nonsevere aplastic anemia received rabbit anti-thymocyte globulin and cyclosporine and partially responded. Six months after the initiation of treatment, he was diagnosed with stage IV angioimmunoblastic T-cell lymphoma and received chemotherapy. PET/CT scan analysis indicated a complete response. However, he showed sustained myelosuppression and was diagnosed with relapse of aplastic anemia. He did not respond to cyclosporine, eltrombopag or methenolone. Fifteen months after eltrombopag administration, he developed MDS with t(3;21)(q26.2;q22). Patients should be monitored carefully for the emergence of not only -7/del(7q) but also 3q26 abnormalities, including t(3;21)(q26.2;q22), during and after eltrombopag treatment.

13.
Hematology ; 26(1): 594-600, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34402416

RESUMO

BACKGROUND: Among myeloproliferative neoplasms, it is often difficult to distinguish essential thrombocythaemia (ET) from prefibrotic-stage primary myelofibrosis (PMF) with thrombocytosis given their overlapping clinicopathological phenotypes. CASE PRESENTATION: We encountered a 45-year-old male who was initially diagnosed with ET and eventually became transformed to secondary myelofibrosis 20 years later. Two distinct types of aberrant megakaryocytes were observed at diagnosis: one type characteristic of ET and the other type characteristic of PMF. With a proliferation in the bone marrow, aberrant megakaryocytes were infiltrated into the extramedullary organs and were even present in the thrombus were observed at autopsy. As a result of next-generation sequencing, the significant increase of variant allele frequency (VAF) of JAK2 V617F and U2AF1 S34Y mutations was observed in the bone marrow cells at the final stage. CONCLUSIONS: This patient could be recognized as an atypical case of aggressive megakaryocytosis transformed from ET.


Assuntos
Megacariócitos/patologia , Mielofibrose Primária/patologia , Trombocitemia Essencial/patologia , Medula Óssea/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mielofibrose Primária/complicações , Mielofibrose Primária/diagnóstico , Trombocitemia Essencial/complicações , Trombocitemia Essencial/diagnóstico
14.
Sci Rep ; 11(1): 14251, 2021 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-34244567

RESUMO

To detect muscle-invasive upper tract urothelial carcinoma, we evaluated the internal texture of the tumor using texture analysis of computed tomography images in 86 cases of upper tract urothelial carcinoma. The internal texture of the tumor was evaluated as the value of computed tomography attenuation number of the unenhanced image, and the median, standard deviation, skewness and kurtosis were calculated. Each parameter was compared with clinicopathological factors, and their associations with postoperative prognosis were investigated. Immunohistochemistry was performed to investigate the histological and molecular mechanisms of the inflammatory tumor microenvironment. The histogram of computed tomography attenuation number in non-muscle invasive tumor was single-peaked, whereas muscle invasive tumor showed a multi-peaked shape. In the parameters obtained by texture analysis, standard deviation was significantly associated with pathological stage (p < 0.0001), tumor grade (p = 0.0053), lymphovascular invasion (p = 0.0078) and concomitant carcinoma in situ (p = 0.0177) along with recurrence-free (p = 0.0191) and overall survival (p = 0.0184). The standard deviation value correlated with the amount of stromal components (p < 0.0001) and number of tumor-infiltrating macrophages (p < 0.0001). In addition, higher expression of high mobility group box 1 was found in heterogeneous tumor. Tumor heterogeneity evaluated by texture analysis was associated with muscle-invasive upper tract urothelial carcinoma and represented an inflammatory tumor microenvironment and useful as the clinical assessment to differentiate muscle invasive tumor.


Assuntos
Carcinoma de Células de Transição/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Neoplasias da Bexiga Urinária/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Prognóstico , Estudos Retrospectivos , Microambiente Tumoral/fisiologia
15.
Brain Dev ; 43(10): 1033-1038, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34281745

RESUMO

BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans. Herein, we report three cases of COL4A1 mutations with porencephaly from gestation to five years of age or longer, and describe their clinical and brain imaging findings. CASE REPORTS: We retrospectively reviewed the clinical symptoms and radiological findings, including brain magnetic resonance imaging (MRI) and computed tomography (CT), in three female patients with COL4A1 mutations. Their mutations were c.4843G>A (p.Glu1615Lys), c.1835G>A (p.Gly612Asp), and c.3556+1G>T respectively. All the three cases represented porencephaly in the fetal period; severe hemolytic anemia in the neonatal period; and drug-resistant epilepsy, global developmental delay, and spastic quadriplegia in their childhood. RESULTS: Brain MRI and CT showed progressive white matter atrophy from gestation to five-year follow-up or later. Minor cerebral hemorrhage without symptoms occasionally occurred in one patient. Despite brain changes, the clinical picture was stable during early childhood. CONCLUSIONS: COL4A1 mutations may cause progressive cerebral atrophy beyond early childhood.


Assuntos
Colágeno Tipo IV/genética , Deficiências do Desenvolvimento/genética , Epilepsia Resistente a Medicamentos/genética , Quadriplegia/genética , Criança , Feminino , Humanos , Mutação
16.
Radiol Med ; 126(7): 925-935, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33954894

RESUMO

Hepatocellular carcinoma (HCC) is the sixth-most common cancer in the world, and hepatic dynamic CT studies are routinely performed for its evaluation. Ongoing studies are examining advanced imaging techniques that may yield better findings than are obtained with conventional hepatic dynamic CT scanning. Dual-energy CT-, perfusion CT-, and artificial intelligence-based methods can be used for the precise characterization of liver tumors, the quantification of treatment responses, and for predicting the overall survival rate of patients. In this review, the advantages and disadvantages of conventional hepatic dynamic CT imaging are reviewed and the general principles of dual-energy- and perfusion CT, and the clinical applications and limitations of these technologies are discussed with respect to HCC. Finally, we address the utility of artificial intelligence-based methods for diagnosing HCC.


Assuntos
Carcinoma Hepatocelular/diagnóstico , Neoplasias Hepáticas/diagnóstico , Fígado/diagnóstico por imagem , Humanos , Tomografia Computadorizada por Raios X/métodos
17.
J Obstet Gynaecol Res ; 47(7): 2500-2508, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33860579

RESUMO

AIM: To clarify incidence and clinical features of treatment-related leukemia (TRL) due to taxane/platinum therapy in gynecological cancer patients. METHODS: We conducted a retrospective study of gynecological cancer patients who were diagnosed at facilities participating in the Gynecologic Oncology Trial and Investigation Consortium and started only taxane/platinum therapy as chemotherapy between 2002 and 2006. RESULTS: The site of the primary lesion was the ovary in 124, endometrium in 37, and uterine cervix in 4. The regimen of chemotherapy was paclitaxel (T) + carboplatin (C) therapy in 134 and others in 31 patients. The cumulative incidence was 2.4% (4/165), and the incidence was 2.9/1,000 person-years. All four cases were acute myeloid leukemia. The average total doses of T and C in patients without TRL were 1,693 (SD 1,050) and 4,170 (SD 2,423) mg. For TRL patients, the total T and C doses were, respectively, 1,555 and 3,540 mg, 1,620 and 4,200 mg, 2,130 and 4,700 mg, 3,220 mg and 8,310 mg. The fourth patient received additional 2,415 mg of docetaxel and 2,155 mg of nedaplatin. The intervals from the primary chemotherapy to the onset of TRL were 27, 34, 67, and 114 months. Three patients had no evidence of ovarian cancer. Three patients died of TRL at 4 days, 5 months, and 11 months, one patient remained in remission at 25 months after diagnosis of TRL. CONCLUSION: Patients receiving taxane/platinum therapy should undergo long-term follow-up with attention to the development of TRL, even if the gynecologic malignant cancer is in remission.


Assuntos
Neoplasias dos Genitais Femininos , Leucemia , Neoplasias Ovarianas , Protocolos de Quimioterapia Combinada Antineoplásica , Carboplatina/uso terapêutico , Feminino , Humanos , Neoplasias Ovarianas/tratamento farmacológico , Paclitaxel/uso terapêutico , Platina , Estudos Retrospectivos , Taxoides/uso terapêutico
18.
J Comput Assist Tomogr ; 45(3): 359-366, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33661153

RESUMO

OBJECTIVES: This study aimed to compare the accuracy of assessing the arterial hypervascularity of hepatocellular carcinoma (HCC) on dynamic computed tomography (CT) scans and gadoxetic acid (EOB)-enhanced magnetic resonance imaging (MRI) scans performed with radial sampling. METHODS: We studied the images of 40 patients with hypervascular HCC. A radiologist recorded the standard deviation of the attenuation (or the signal intensity [SI]) in subcutaneous fat tissue as the image noise (N) and calculated the contrast-to-noise ratio (CNR) as follows: (CNR) = (n-ROIT - n-ROIL)/N, where n-ROIT is the mean attenuation (or SI) of the tumor divided by the mean attenuation (or SI) of the aorta and n-ROIL is the mean attenuation (or SI) of the liver parenchyma divided by the mean attenuation (or SI) of the aorta. RESULTS: The CNR was significantly higher on EOB-enhanced MRI than on dynamic CT scans. CONCLUSIONS: For the assessment of HCC vascularity, EOB-enhanced MRI scans acquired with radial sampling were more accurate than dynamic CT images.


Assuntos
Angiografia/métodos , Carcinoma Hepatocelular/irrigação sanguínea , Gadolínio DTPA/administração & dosagem , Artéria Hepática/diagnóstico por imagem , Neoplasias Hepáticas/irrigação sanguínea , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Idoso , Idoso de 80 Anos ou mais , Carcinoma Hepatocelular/diagnóstico por imagem , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Razão Sinal-Ruído , Tomografia Computadorizada por Raios X
19.
Eur Radiol ; 31(7): 4700-4709, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33389036

RESUMO

OBJECTIVES: We evaluated lower dose (LD) hepatic dynamic ultra-high-resolution computed tomography (U-HRCT) images reconstructed with deep learning reconstruction (DLR), hybrid iterative reconstruction (hybrid-IR), or model-based IR (MBIR) in comparison with standard-dose (SD) U-HRCT images reconstructed with hybrid-IR as the reference standard to identify the method that allowed for the greatest radiation dose reduction while preserving the diagnostic value. METHODS: Evaluated were 72 patients who had undergone hepatic dynamic U-HRCT; 36 were scanned with the standard radiation dose (SD group) and 36 with 70% of the SD (lower dose [LD] group). Hepatic arterial and equilibrium phase (HAP, EP) images were reconstructed with hybrid-IR in the SD group, and with hybrid-IR, MBIR, and DLR in the LD group. One radiologist recorded the standard deviation of attenuation in the paraspinal muscle as the image noise. The overall image quality was assessed by 3 other radiologists; they used a 5-point confidence scale ranging from 1 (unacceptable) to 5 (excellent). Superiority and equivalence with prespecified margins were assessed. RESULTS: With respect to the image noise, in the HAP and EP, LD DLR and LD MBIR images were superior to SD hybrid-IR images; LD hybrid-IR images were neither superior nor equivalent to SD hybrid-IR images. With respect to the quality scores, only LD DLR images were superior to SD hybrid-IR images. CONCLUSIONS: DLR preserved the quality of abdominal U-HRCT images even when scanned with a reduced radiation dose. KEY POINTS: • Lower dose DLR images were superior to the standard-dose hybrid-IR images quantitatively and qualitatively at abdominal U-HRCT. • Neither hybrid-IR nor MBIR may allow for a radiation dose reduction at abdominal U-HRCT without compromising the image quality. • Because DLR allows for a reduction in the radiation dose and maintains the image quality even at the thinnest slice section, DLR should be applied to abdominal U-HRCT scans.


Assuntos
Aprendizado Profundo , Algoritmos , Redução da Medicação , Humanos , Doses de Radiação , Interpretação de Imagem Radiográfica Assistida por Computador , Tomografia Computadorizada por Raios X
20.
Int J Hematol ; 113(6): 936-940, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33400143

RESUMO

Tyrosine kinase inhibitors (TKIs) are standard therapies for chronic myeloid leukemia (CML) that can eradicate Ph-positive leukemic cells. However, disease control is not achievable in a minority of cases, most commonly due to evolution of TKI-resistant clones. There have also been rare cases of emergence of Ph-negative clones with other cytogenetic abnormalities, and, less commonly, development of Ph-negative acute myeloid leukemia (AML), whose molecular pathogenesis is largely unknown. Here we report molecular features of a patient with Ph + CML who developed Ph-negative AML after showing a major molecular response to dasatinib. A 55-year-old man was diagnosed with CML. He achieved a complete cytogenetic response three months after dasatinib therapy but developed AML with normal karyotype 1 year later. After receiving induction and consolidation chemotherapy for AML, the patient achieved complete remission with no evidence of CML under maintenance with bosutinib. Targeted sequencing of serial bone marrow samples identified mutations in IDH2 and NPM1 in the Ph-negative AML cells, which had not been detected in CML cells. These results suggest that Ph-negative AML in this patient originated from a preleukemic population, which might have expanded during or after the successful elimination of CML clones with TKI therapy.


Assuntos
Compostos de Anilina/administração & dosagem , Dasatinibe/administração & dosagem , Isocitrato Desidrogenase , Mutação , Proteínas de Neoplasias , Nitrilas/administração & dosagem , Proteínas Nucleares , Inibidores de Proteínas Quinases/administração & dosagem , Quinolinas/administração & dosagem , Humanos , Isocitrato Desidrogenase/metabolismo , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/metabolismo , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/metabolismo , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Nucleofosmina , Cromossomo Filadélfia
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