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Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges due to overlapping symptoms and variable expressivity, despite evolving genomic insights. The study aimed to elucidate the genomic landscape among 130 Korean patients with IBMFS. We conducted targeted next-generation sequencing (NGS) and clinical exome sequencing (CES) across the cohort, complemented by whole genome sequencing (WGS) and chromosomal microarray (CMA) in 12 and 47 cases, respectively, with negative initial results. Notably, 50% (n = 65) of our cohort achieved a genomic diagnosis. Among these, 35 patients exhibited mutations associated with classic IBMFSs (n = 33) and the recently defined IBMFS, aplastic anaemia, mental retardation and dwarfism syndrome (AmeDS, n = 2). Classic IBMFSs were predominantly detected via targeted NGS (85%, n = 28) and CES (88%, n = 29), whereas AMeDS was exclusively identified through CES. Both CMA and WGS aided in identifying copy number variations (n = 2) and mutations in previously unexplored regions (n = 2). Additionally, 30 patients were diagnosed with other congenital diseases, encompassing 13 distinct entities including inherited thrombocytopenia (n = 12), myeloid neoplasms with germline predisposition (n = 8), congenital immune disorders (n = 7) and miscellaneous genomic conditions (n = 3). CES was particularly effective in revealing these diverse diagnoses. Our findings underscore the significance of comprehensive genomic analysis in IBMFS, highlighting the need for ongoing exploration in this complex field.
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BACKGROUND AND OBJECTIVES: Decreased or loss of ABO blood group antigen expression has been observed in acute myeloid leukaemia (AML) patients. We studied the clinical significance of this group in AML patients. MATERIALS AND METHODS: This was a retrospective, single-centre cohort study in which the data were retrieved from April 2009 to December 2019. A total of 1592 AML patients with normal ABO blood group antigen (Group I) and 65 patients of decreased or loss of ABO blood group antigen (Group II) group were enrolled. Data were collected at the time of initial admission for pathological diagnosis. To interrogate the underlying mechanism, publicly available The Cancer Genome Atlas AML data were downloaded. RESULTS: Group II consisted of 3.9% (65/1657) of AML patients. The 90-day survival (D90) probability was higher for Group II with a mean survival of 86.4 days compared to 80.6 days for Group I (p = 0.047). Group II had higher haematocrit (28.6 vs. 27.4%) and lower d-dimer, fibrinogen degradation production and C-reactive protein. Publicly available data revealed that among 11 CpG methylation sites within the ABO gene, 4 sites with elevated methylation level were associated with improved D90 survival probability and demonstrated an inverse correlation with ABO gene expression. Lower expression of the ABO gene showed improved survival trends for D90 (p = 0.058) and 180-day survival (p = 0.072). CONCLUSION: AML with decreased expression or loss of ABO blood group showed better early survival during D90. Transfusion support for this subgroup of AML patients should be meticulously performed considering serum typing.
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Sistema ABO de Grupos Sanguíneos , Leucemia Mieloide Aguda , Humanos , Estudos Retrospectivos , Sistema ABO de Grupos Sanguíneos/genética , Estudos de Coortes , Relevância Clínica , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapiaRESUMO
BACKGROUND: The association between leukapheresis (LK) as a treatment option for hyperleukocytosis (HL) in patients with acute myeloid leukemia (AML) remains controversial. METHODS: Data were extracted from the electronic medical record for 2801 patients with AML between April 2009 and December 2019. LK was performed when the leukocyte count was ≥100 × 109 /L at the time initial bone marrow examination. RESULTS: A comparison between the patients with HL in the non-LK (n = 1579) and LK (n = 208) groups revealed survival probabilities (%) of 93.2% and 90.4% (P = .130) for day 30 (D30), 85.4% and 84.2% (P = .196) for D60, and 83.6% and 80.8% (P = .258) for D90, respectively. After propensity score matching, a comparison between the patients with HL in the non-LK (n = 192) and LK (n = 192) groups revealed survival probabilities (%) of 83.9% and 91.2% (P = .030) for D30, 75.0% and 84.9% (P = .015) for day 60 (D60), and 62.4% and 81.3% (P = .034) for day 90 (D90), respectively. After D150, the observed effect of LK appeared to be mitigated without a survival benefit. DISCUSSION: LK was associated with improved early survival outcomes at D30, D60, and D90 among patients with AML exhibiting HL. Thus, it may be considered a treatment option for reducing cell mass in such patients.
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Leucemia Mieloide Aguda , Leucocitose , Humanos , Estudos de Coortes , Leucocitose/terapia , Leucaférese , Pontuação de Propensão , Leucemia Mieloide Aguda/terapiaRESUMO
BACKGROUND: Serology testing is useful to determine the past infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). METHODS: We evaluated the comparative performance of a newly developed neutralizing antibody test (R-FIND SARS-CoV-2 Neutralizing Antibody ELISA, SG Medical, Seoul, Korea) and a rapid fluorescence immunoassay (FREND™ COVID-19 SP, NanoEntek, Hwaseong, Korea) for the detection of SARS-CoV-2 spike protein antibody. They were compared with cPass™ SARS-CoV-2 Neutralization Antibody Detection Kit (Genscript Biotech, Piscataway, NJ, USA) and ADVIA Centaur SARS-CoV-2 Total (COV2T) (Siemens Healthineers, Erlangen, Germany). Forty COVID-19 samples and 80 negative samples were collected after nucleic acid tests. RESULTS: The positive percent agreement (%) of the kit in samples from 6 - 7 days, 8 - 14 days, and 15 - 45 days after symptom onset were as follows: R-FIND (83.3, 76.9, 95.2), cPass (83.3, 69.2, 90.5), FREND (66.6, 84.6, 100), and COV2T (66.6, 69.2, 76.2). The negative percent agreement (%) was 100, 97.5, 92.5, and 100 for R-FIND, cPass, FREND, and COV2T. The total agreement rate between the neutralizing antibody kits (R-FIND and cPass) was 96.7%. FREND showed high agreement with two neutralizing antibody kits (96.7% for R-FIND and 93.3% for cPass). CONCLUSIONS: R-FIND Neutralizing Antibody and FREND COVID-19 SP showed comparable detecting ability to commercial tests.
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COVID-19 , SARS-CoV-2 , Anticorpos Neutralizantes , Anticorpos Antivirais , COVID-19/diagnóstico , Ensaio de Imunoadsorção Enzimática , Humanos , Imunoensaio , Sensibilidade e Especificidade , Glicoproteína da Espícula de CoronavírusRESUMO
Individuals with motor incomplete spinal cord injuries (iSCI) often have impaired abilities to maintain upright balance. For able-bodied (AB) individuals, the ankle and hip joint accelerations are in antiphase to minimize the postural sway during quiet standing. Here we investigated how interjoint coordination between the ankle and hip joints was affected in individuals with iSCI, leading to their larger postural sway during quiet standing. Data from 16 individuals with iSCI, 14 age- and sex-matched AB individuals, and 13 young AB individuals were analyzed. The participants performed quiet standing during which kinematic and kinetic data were recorded. Postural sway was quantified using center-of-pressure velocity and center-of-mass acceleration. Individual ankle and hip joint kinematics were quantified, and the interjoint coordination was assessed using the cancellation index (CI), goal-equivalent variance (GEV), nongoal-equivalent variance (NGEV), and uncontrolled manifold (UCM) ratio. Individuals with iSCI displayed greater postural sway compared with AB individuals. The contribution of ankle angular acceleration toward one's sway was significantly greater for those with iSCI compared with AB groups. CI and the UCM ratios were not statistically different between the groups, while GEV and NGEV were significantly greater for the iSCI group compared with the AB groups. We demonstrated that individuals with iSCI show larger postural sway compared with the AB individuals during quiet standing, primarily due to larger ankle joint acceleration. We also demonstrated that the interjoint coordination between ankle and hip joint is not affected in individuals with iSCI, which is not successfully able to reduce the large COM acceleration.NEW & NOTEWORTHY There are limited studies investigating the biomechanics of standing balance for individuals with motor incomplete spinal cord injury (iSCI). Through our study, we found that these individuals with iSCI demonstrated increased postural sway primarily due to increased ankle joint accelerations. In addition, the ankle-hip coordination was equivalent between able-bodied individuals and those with motor incomplete spinal cord injury, which was not able to reduce the large body acceleration.
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Articulação do Tornozelo/fisiopatologia , Fenômenos Biomecânicos/fisiologia , Articulação do Quadril/fisiopatologia , Equilíbrio Postural/fisiologia , Traumatismos da Medula Espinal/fisiopatologia , Posição Ortostática , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
STUDY DESIGN: Cross sectional. OBJECTIVES: To compare the reactive stepping ability of individuals living with incomplete spinal cord injury or disease (SCI/D) to that of sex- and age-matched able-bodied adults. SETTING: A tertiary SCI/D rehabilitation center in Canada. METHODS: Thirty-three individuals (20 with incomplete SCI/D) participated. Participants assumed a forward lean position in standing whilst 8-12% of their body weight was supported by a horizontal cable at waist height affixed to a rigid structure. The cable was released unexpectedly, simulating a forward fall and eliciting one or more reactive steps. Behavioral responses (i.e., single step versus non-single step) were compared using a Chi-square test. The following temporal parameters of reactive stepping were compared using t-tests: the onset of muscle activation in 12 lower extremity muscles (six per limb) and step-off, step contact and swing time of the stepping leg. RESULTS: Behavioral responses were significantly different between groups (χ2 = 13.9 and p < 0.01) with participants with incomplete SCI/D showing more non-single step responses (i.e., multi-steps and falls). The onsets of muscle activation were more variable in participants with incomplete SCI/D, but only the stepping tibialis anterior showed a significantly slower onset in this group compared with able-bodied adults (t = -2.11 and p = 0.049). Movement timing of the stepping leg (i.e., step-off, step contact, and swing time) was not significantly different between groups. CONCLUSIONS: Reactive stepping ability of individuals with incomplete SCI/D is impaired; however, this impairment is not explained by temporal parameters. The findings suggest that reactive stepping should be targeted in the rehabilitation of ambulatory individuals with SCI/D.
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Acidentes por Quedas , Equilíbrio Postural/fisiologia , Tempo de Reação/fisiologia , Doenças da Medula Espinal/fisiopatologia , Posição Ortostática , Adulto , Idoso , Idoso de 80 Anos ou mais , Fenômenos Biomecânicos/fisiologia , Estudos Transversais , Eletromiografia , Feminino , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Traumatismos da Medula Espinal/fisiopatologiaRESUMO
BACKGROUND: While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. METHODS: We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. RESULTS: Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4-6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. CONCLUSIONS: Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients.
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Povo Asiático/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Adulto , Alelos , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma Epitelial do Ovário , DNA/química , DNA/isolamento & purificação , DNA/metabolismo , Éxons , Feminino , Rearranjo Gênico , Heterozigoto , Humanos , Pessoa de Meia-Idade , Neoplasias Epiteliais e Glandulares/genética , Neoplasias Epiteliais e Glandulares/patologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Linhagem , República da Coreia , Fatores de Risco , Análise de Sequência de DNA , Deleção de SequênciaRESUMO
BACKGROUND: The FREND™ thyroid stimulating hormone (TSH) and free thyroxine (FT4) assays are newly developed rapid quantitative immunoassays utilizing antibody-conjugated fluorescent nanoparticles in a microfluidic flow system. The FREND system is a simple and portable fluorescence reader with rapid turnaround time (4 - 10 minutes). METHODS: The analytical sensitivity, precision, and linearity were evaluated. For the method comparison, FREND TSH and FT4 levels were compared with those from ADVIA Centaur XP and Abbott ARCHITECT i2000. RESULTS: The limit of detection was 0.047 mIU/L and 5.031 pmol/L in FREND TSH and FT4 assays. FREND system had acceptable linearity and precision of ï£ 10% across the assay range (0.05 - 25.0 mIU/L for TSH and 1.4 - 96.8 pmol/L for FT4). The functional sensitivity was 0.057 mIU/L for the TSH assay and 4.644 pmol/L for the FT4 assay. Passing-Bablok regression analysis of TSH data showed good correlation among the three assays. For the FT4 assay, FREND FT4 displayed good correlation with the ARCHITECT FT4 assay, but the intercepts and slopes significantly differed between FREND and Centaur results: [FREND FT4] = 4.799 + 0.600 [Centaur FT4]. CONCLUSIONS: The analytical performance of FREND TSH and FT4 assays was satisfactory for use in the clinical laboratory. The FREND FT4 assay was in concordance with ARCHITECT FT4, but it needs further investigation and harmonization.
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Análise Química do Sangue/instrumentação , Imunoensaio/instrumentação , Dispositivos Lab-On-A-Chip , Técnicas Analíticas Microfluídicas/instrumentação , Doenças da Glândula Tireoide/sangue , Testes de Função Tireóidea/instrumentação , Tireotropina/sangue , Tiroxina/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Desenho de Equipamento , Humanos , Limite de Detecção , Modelos Lineares , Medições Luminescentes , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Doenças da Glândula Tireoide/diagnósticoRESUMO
Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes: RET, NF1, VHL, and SDHD. Germline mutations were significantly associated with a family history of PPGL, smaller tumor size, and the presence of other types of tumors. Using 95 Korean PPGL cases with germline mutations identified through a literature review and 13 cases from our cohort, we characterized genotype-phenotype correlations. Mutation hotspots were identified in specific codons of RET (codons 631 and 634), VHL (157 and 167), and SDHB (131 and 253). NF1 mutations varied, indicating the absence of common hotspots. These findings highlight the efficacy of the recommended NGS panel for Korean patients with PPGL and the importance of genetic testing in establishing clinical management and personalized therapeutic strategies.
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Anemia Hemolítica Congênita/diagnóstico , Anemia Hemolítica Congênita/genética , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/genética , Canais Iônicos/genética , Síndromes Mielodisplásicas/diagnóstico , Anemia Hemolítica Congênita/patologia , Diagnóstico Diferencial , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hidropisia Fetal/patologia , Masculino , Mutação , Sítios de Splice de RNA , Adulto JovemRESUMO
While somatic gain-of-function mutations in the CTNNB1 gene cause diverse malignancies, germline loss-of-function mutations cause neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, CTNNB1-related neurodevelopmental disorders have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with CTNNB1-related neurodevelopmental disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.
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In 2015, germline mutations in PPP2R1A were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases of PPP2R1A-related NDDs have been reported. Here, we report the first Korean case of PPP2R1A-related NDD harboring a novel de novo missense PPP2R1A variant with previously unreported clinical features. The proband, a 12-month-old female, presented with developmental delay, intractable epilepsy, microcephaly, and feeding difficulties. Brain magnetic resonance imaging showed a Dandy-Walker continuum with corpus callosum hypoplasia, periventricular leukomalacia, and brainstem and diffuse cerebral atrophy. Next-generation sequencing-based targeted gene panel testing for NDDs revealed a novel heterozygous missense variant of PPP2R1A:c.650A>G, p.(Gln217Arg). Sanger sequencing confirmed it as de novo, as neither parent carried this variant. These findings expand the phenotypic and genotypic spectra of PPP2R1A variants.
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Transtornos do Neurodesenvolvimento , Feminino , Humanos , Lactente , Encéfalo , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Proteína Fosfatase 2/genética , República da Coreia , Fatores de Transcrição/genéticaRESUMO
Pelvic organ prolapse (POP) is a benign gynecological disease in which the pelvic organ descends into the vagina and causes voiding, and defecatory dysfunction, mainly occurs in older women. This study aimed to investigate the vaginal microbiome of POP and associated changes after anatomical restorative pessary or reconstructive pelvic operation. We analyzed the vaginal microbiome using 16S ribosomal RNA gene sequencing and compared the results among patient groups with POP, pessary, and postoperation. We also measured 10 inflammation-related cytokines in vaginal swab samples using multiplex immunoassay. In pelvic organ prolapse, vaginal community status type IV was the most prevalent, which showed a low abundance of Lactobacillus with increased diversity and abundance of anaerobic species. The alpha diversity of species richness was highest in the POP group. The beta diversity distance differed significantly between the three groups (p = 0.001). While human intestinal taxa-associated bacteria were reduced after pessary or operation, vaginitis-associated bacterial composition was altered but vaginal microbiome homeostasis was not improved. IFN-γ, IL-10, IL-12p70, IL-1ß, IL-4 and TNF-α levels increased in the pessary group. Therefore, in addition to anatomical restorative treatment, supplementary treatment focusing on the recovery of the vaginal microbiome may be needed to maintain the health of gynecological organs in old age.
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Microbiota , Prolapso de Órgão Pélvico , Feminino , Humanos , Idoso , Prolapso de Órgão Pélvico/terapia , Vagina , Diafragma da Pelve , Pessários , Microbiota/genéticaRESUMO
Transfusion support for hematopoietic stem cell transplantation (HSCT) is an essential part of supportive care, and compatible blood should be transfused into recipients. As leukocyte antigen (HLA) matching is considered first and as the blood group does not impede HSCT, major, minor, bidirectional, and RhD incompatibilities occur that might hinder transfusion and cause adverse events. Leukocyte reduction in blood products is frequently used, and irradiation should be performed for blood products, except for plasma. To mitigate incompatibility and adverse events, local transfusion guidelines, hospital transfusion committees, and patient management should be considered.
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BACKGROUND: The ongoing COVID-19 pandemic has seen the emergence of numerous novel variants of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. In this study, we compared the efficacy of three different forms of immunization against the wild-type, delta, and omicron variants of the virus: two doses of the BNT or AZ vaccine (BNT/BNT or AZ/AZ) as homologous vaccination, three doses of AZ/AZ/BNT as heterologous vaccination, and naturally occurring immunization in severe COVID-19 cases. METHODS: We collected serum samples from vaccine recipients (67 receiving BNT/BNT, 111 receiving AZ/AZ, and 18 receiving AZ/AZ/BNT) and 46 patients who were admitted to the hospital with severe COVID-19. Blood samples were taken one month after the last injection and the efficacy of the vaccination was determined using the surrogate virus neutralization test (sVNT), with a positive result defined as an inhibition rate of over 30%. Serum samples from COVID-19 patients were taken at various points during their hospitalization and tested for inhibition rates. RESULTS: Our results indicated that there was no notable difference in the levels of neutralizing antibodies (nAb) in vaccine recipients and patients against the wild-type and delta variants. However, when it came to the omicron variant, the vaccine recipients had significantly lower nAb titers. Among the vaccine recipients, those who received a booster dose of BNT after their first two doses of AZ (AZ/AZ/BNT) demonstrated the highest level of protection against the omicron variant at 44.4%, followed closely by the COVID-19 patients. In analyzing the serial samples taken from hospitalized COVID-19 patients, we observed that their inhibition rates against the wild-type and delta variants improved over time, while the inhibition rate against the omicron variant decreased. CONCLUSION: In conclusion, our findings suggest that heterologous booster vaccination after primary vaccination produces higher nAb titers and provides a higher level of protection against the omicron variant compared to primary vaccination alone. This protective effect was similar to that observed in patients with severe COVID-19.
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Vacina BNT162 , COVID-19 , Humanos , Pandemias , SARS-CoV-2 , COVID-19/prevenção & controle , Vacinação , Anticorpos Neutralizantes , Imunidade , Anticorpos AntiviraisRESUMO
Acute myeloid leukemia (AML) is a clinical emergency requiring treatment and results in high 30-day (D30) mortality. In this study, the prediction of D30 survival was studied using a machine learning (ML) method. The total cohort consisted of 1700 survivors and 130 non-survivors at D30. Eight clinical and 42 laboratory variables were collected at the time of diagnosis by pathology. Among them, six variables were selected by a feature selection method: induction chemotherapy (CTx), hemorrhage, infection, C-reactive protein, blood urea nitrogen, and lactate dehydrogenase. Clinical and laboratory data were entered into the training model for D30 survival prediction, followed by testing. Among the tested ML algorithms, the decision tree (DT) algorithm showed higher accuracy, the highest sensitivity, and specificity values (95% CI) of 90.6% (0.918-0.951), 70.4% (0.885-0.924), and 92.1% (0.885-0.924), respectively. DT classified patients into eight specific groups with distinct features. Group 1 with CTx showed a favorable outcome with a survival rate of 97.8% (1469/1502). Group 6, with hemorrhage and the lowest fibrinogen level at diagnosis, showed the worst survival rate of 45.5% (25/55) and 20.5 days. Prediction of D30 survival among AML patients by classification of patients with DT showed distinct features that might support clinical decision-making.
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The quantification of hepatitis B virus (HBV) DNA is critical for the diagnosis and management of HBV infections. We evaluated the performance of the Aptima HBV Quant assay for quantitative HBV DNA analysis. The intra-assay coefficient of variation for this assay was 2.08% (mean 3.45 log IU/mL) and 1.10% (mean 5.23 log IU/mL). Linearity ranged from 1.03 to 8.20 log IU/mL. The limit of detection was estimated at 4.31 IU/mL, which corresponded to the 4.29 IU/mL claimed by the manufacturer. All 25 other viral infections were determined to be negative. Passing-Bablok regression analysis showed no significant deviations between Aptima HBV Quant assay and Abbott RealTime HBV assay. The Aptima HBV Quant assay demonstrated comparable performance to the Abbott assay.
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DNA Viral , Vírus da Hepatite B , DNA Viral/genética , Genótipo , Vírus da Hepatite B/genética , Humanos , Sensibilidade e Especificidade , Carga ViralRESUMO
BACKGROUND: Automated urine sediment analysis has been developed to address the limitations of microscopic examination of dysmorphic red blood cells (RBCs). We evaluated the urinary RBC distribution (URD) parameter of a recently launched automated urinary flow cytometry analyzer, UF-5000 (Sysmex, Kobe, Japan), to differentiate glomerular hematuria (GH) from non-GH (NGH). METHODS: Samples submitted for urine sediment analysis from patients with hematuria (>20 RBCs/µL) were divided into derivation (N=156; 101 GH, 55 NGH) and validation cohorts (N=107; 60 GH, 47 NGH). The clinical diagnosis of GH or NGH was established based on clinical data review. Differences in UF-5000 parameters (URD, small RBC, lysed RBC, RBC-P70FSC, RBC-SF-FSC-W, mean forward-scattered light, and mean side-scattered light) between GH and NGH, and areas under the ROC curves (AUC) were analyzed in the derivation cohort. The derived ideal cut-off value was evaluated in the validation cohort. We applied the Kitasato criteria to compare the diagnostic performance. RESULTS: URD (%), differed significantly between GH and NGH (P<0.001) in the two cohorts. The AUC of URD was 0.814 and 0.806 in the derivation and validation cohorts, respectively. Using a cut-off of >20.1%, the sensitivity was 99.0%/89.4% and the specificity was 50.9%/63.3% in the derivation/validation cohort. When the Kitasato criteria were applied, the sensitivity and specificity were 80.2% and 52.7%, respectively. CONCLUSIONS: URD is a rapid, objective, and quantitative measure that can be used to differentiate GH and NGH.
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Hematúria , Nefropatias , Diferenciação Celular , Eritrócitos , Hematúria/diagnóstico , Humanos , Glomérulos RenaisRESUMO
Adverse events following vaccination with the ChAdOx1 COVID-19 vaccine may be associated with the titer of neutralizing antibodies (NAbs) against SARS-CoV-2. In this cross-sectional study, a total of 82 HCWs who received the ChAdOx1 COVID-19 vaccine and did not have previous COVID-19 history were enrolled during March 2021. Blood samples were collected from HCWs 3 weeks after the first and second doses of vaccine, and NAbs were estimated using two types of commercially available kits, the cPass™ SARS-CoV-2 NAbs Kit (Genscript Biotech, Piscataway, NJ, USA) and R-FIND SARS-CoV-2 NAbs ELISA (SG Medical, Seoul, Korea). Median percent signal inhibition of NAbs was significantly higher after the second than after the first dose of vaccine, as determined using both the Genscript (median 43.1[IQR 71.2] vs. 93.6[83.1], p = 0.004) and R-FIND (53.2[82.6] vs. 76.8 [90.6], p = 0.03) kits. The percent signal inhibition of NAbs after the second dose of vaccine was higher in HCWs with than without systemic adverse events after the second dose, as determined using both the Genscript (p = 0.03) and R-FIND (p = 0.07) kits. The two doses of the ChAdOx1 vaccine induced high value of NAbs 3 weeks after vaccination. Immune responses were stronger in HCWs with than without adverse reactions after the second dose of ChAdOx1 vaccine.
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Vacinas contra COVID-19 , COVID-19 , Anticorpos Antivirais , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , ChAdOx1 nCoV-19 , Estudos Transversais , Humanos , SARS-CoV-2 , Glicoproteína da Espícula de Coronavírus , Vacinação/efeitos adversosRESUMO
BACKGROUND: Granulocyte transfusions (GTs) have been used to treat infections in neutropenic patients undergoing chemotherapy or hematopoietic stem cell transplantation. However, there is persistent controversy regarding their outcomes. We aimed to analyze accumulated clinical and laboratory data from patients with acute myeloid leukemia (AML) who underwent GT at our institution in the last 10 years to determine optimal parameters to estimate the GT effect. We hypothesized that patients grouped according to prognostic factors would have inconsistent clinical outcomes. MATERIALS AND METHODS: In this single-center retrospective study, we collected medical records of 219 GT-treated patients diagnosed with AML from 2009 to 2019. Prognostic factors, including clinical and laboratory parameters, were assessed. Serial measurements of laboratory parameters before and after GT were collected, and the area under the curve of the white blood cells (AUC-WBC) was calculated using the trapezoidal method. A prognostic scoring system using 8 factors from multivariate analysis was analyzed. The primary outcome was survival at 30 days (D30) after GT initiation. RESULTS: The 8 factors for the prognosis scoring system included secondary AML, mean AUC-WBC, prothrombin time, and levels of blood urea nitrogen (BUN), bilirubin, alanine aminotransferase (ALT), phosphorus, and lactate dehydrogenase (LDH). Patients were grouped into 4 risk groups (low, medium, high, and very high), and the D30 survival rates for each group were as follows: 87.6% (99/113), 55.9% (33/59), 21.1% (4/19), and 0% (0/19), respectively. Hematopoiesis, liver, and renal function affected the outcome. FLT3 mutation acted as a favorable factor for D30 survival. CONCLUSIONS: GT response in patients with AML seemed to be reflected by 8 score markers, and GT was significantly effective in the low-risk group. We suggest that it is important to evaluate the risk assessment of patients before GT to achieve better outcomes.