RESUMO
Transient abnormal myelopoiesis (TAM) is a unique neonatal leukemoid reaction caused by a pathognomonic GATA1 mutation in conjunction with the gene dosage effect of trisomy 21, which is either of germline or somatic origin. We encountered a 48,XYY,+21 phenotypically normal neonate with Down syndrome who developed TAM due to cryptic germline mosaicism. Quantification of the mosaic ratio was complicated by an overestimation bias of hyperproliferating TAM within the germline component. To establish a workflow for such a clinical scenario, we analyzed the cytogenetic findings of neonates with TAM associated with somatic or low-level germline mosaicism. We showed that multistep diagnostic procedures (i.e., paired cytogenetic analyses of peripheral blood specimens in culture with or without phytohemagglutinin; serial cytogenetic studies of more than one tissue, such as the buccal membrane; and complementary DNA-based GATA1 mutation screening) can verify the specificity of cytogenetic testing for phenotypically normal neonates with TAM suspected of mosaicism.
RESUMO
Secondary expansion and/or evolution of aggressive subclones are associated with the disease progression and resistance to chemotherapy in neuroblastoma, and it is important to track the clonal changes during the treatment period. Cell-free (cf) DNA analysis, namely liquid biopsy, can detect the genomic change of tumor cells without surgical procedures. In this report, we showed that serial polymerase chain reaction-based cf DNA neuroblastoma proto-oncogene quantification is sensitive enough to evaluate the aggressive cellular characteristics of ALK/MYCN-coamplified neuroblastoma and stressed the promise of cf DNA analyses as a reliable molecular marker in advanced neuroblastoma.
Assuntos
Quinase do Linfoma Anaplásico/genética , Biomarcadores Tumorais/genética , Ácidos Nucleicos Livres/análise , Variações do Número de Cópias de DNA , Amplificação de Genes , Proteína Proto-Oncogênica N-Myc/genética , Neuroblastoma/diagnóstico , Ácidos Nucleicos Livres/genética , Humanos , Lactente , Masculino , Neuroblastoma/genética , Prognóstico , Proto-Oncogene MasRESUMO
Postpartum thyroiditis (PPT) is characterized by mild thyrotoxicosis occurring within one year of parturition commonly followed by transient hypothyroidism. Having genetic background of autoimmune thyroid disorders is a risk factor for it because the immune reactivation during postpartum period is a trigger for PPT. Pandemic of COVID-19: caused by SARS-CoV-2 infection is a global health problem, and occurrence of Graves' disease and Hashimoto's thyroiditis after the viral infection have been reported but occurrence of PPT with COVID-19 has never been reported. A 29-year-old woman developed general fatigue four and a half months after parturition, and was diagnosed as having PPT: one month before, she had COVID-19. Hereafter, we define the date of delivery as Day 0 to make timeline clear. SARS-CoV-2 infection was diagnosed by PCR on Day 103, its disappearance from the upper airway confirmed on Day 124, and the thyroiditis diagnosed on Day 136. She had been euthyroid on Day 0 and 95, but thyrotoxic on Day 136. Serum thyroglobulin (Tg) concentration was normal in the presence of anti-Tg antibody, other thyroid-related autoantibodies were negative, and by ultrasonography, the thyroid gland was normal in size and no evidence of increased vascularity. Thyroid function returned to normal by Day 172 without any specific drug therapy. In conclusion, although a clear causal relationship could not be found, we documented the world's first case of PPT developed following COVID-19.
Assuntos
COVID-19 , Tireoidite Pós-Parto/imunologia , Adulto , Autoanticorpos/imunologia , Feminino , Humanos , Tireoidite Pós-Parto/sangue , Tireoidite Pós-Parto/fisiopatologia , Recuperação de Função Fisiológica , Remissão Espontânea , SARS-CoV-2 , Tireoglobulina/sangueRESUMO
We report a case series of 6 patients with confirmed coronavirus disease 2019 (COVID-19) in Wakayama prefecture, Japan. All 6 of the patients tested positive via pharyngeal swab polymerase chain reaction (PCR) tests, and 2 of the 6 were still positive at 3 weeks after onset. All of the patients exhibited bilateral ground glass opacities on computed tomography (CT). This article also reports narrative information on the spectrum of symptoms collected directly from the patients. It would be difficult to triage patients with COVID-19 based on the typical symptoms of fever and/or cough, although PCR and CT are definitive in diagnosis.
Assuntos
Betacoronavirus , Infecções por Coronavirus , Pandemias , Pneumonia Viral , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19 , Teste para COVID-19 , Técnicas de Laboratório Clínico , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/diagnóstico por imagem , Infecções por Coronavirus/fisiopatologia , Tosse , Feminino , Febre , Humanos , Japão , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Faringe/virologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/diagnóstico por imagem , Pneumonia Viral/fisiopatologia , Reação em Cadeia da Polimerase , SARS-CoV-2 , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Maximum bite force (MBF) is a common and useful index of masticatory function; it correlates with physical strength in elderly people. Palpation of stiffness in the masseter muscle during forceful biting has been considered to be associated with MBF. However, this assessment method relies on subjective judgments; no study has verified the relationship between MBF and quantitative measurements of masseter muscle stiffness (MMS). OBJECTIVE: We aimed to verify the association between masseter muscle myotonometric assessment results and MBF. METHODS: In total, 117 community-dwelling >65-year-old individuals from the Tokyo metropolitan area were assessed. MMS on the dominant side during forceful biting was measured with a MyotonPRO device. Masseter muscle thickness (MMT) during rest and forceful biting was measured with an ultrasonic diagnostic apparatus, and the difference in MMT (DMMT) between the rest and forceful biting conditions was determined. MBF data were obtained with a pressure-sensitive sheet and an associated device. To determine the independent variables affecting MBF and MMS, multivariate linear regression analyses with adjustments for age, sex and number of teeth were performed. RESULTS: The multivariate analysis revealed that MBF correlated with the number of teeth (ß = .489, P < .001) and MMS (ß = .259, P = .003) (R2 = .433). MMS correlated with MBF (ß = .308, P = .003) and DMMT (ß = .430, P < .001) (R2 = .326). CONCLUSION: Masseter muscle stiffness possibly reflects a force generated by the masseter muscle during forceful biting. Therefore, MMS is effective to assess tooth loss as well as an index of masseter muscle strength when evaluating MBF.
Assuntos
Força de Mordida , Dente , Idoso , Humanos , Vida Independente , Músculo Masseter , Força MuscularRESUMO
BACKGROUND: Although age-related changes in muscle quality influence muscle strength, the relationship between masseter muscle (MM) quality and maximum biting force (MBF) has never been studied. OBJECTIVE: The aims of the study were to verify the relationship among MM quality, MBF, and the displacement of the MM while biting forcefully (MMD) and to clarify the age-related decline in MBF in healthy elderly persons. METHODS: Seventy-four healthy community-dwelling individuals (mean age, >65 years) from Tokyo metropolis were recruited. The thickness (index of muscle quantity), echo intensity (index of muscle quality) and displacement of the MM while biting forcefully (MMT, MMEI and MMD, respectively) were measured by ultrasonography. MBF was measured using a pressure-sensitive sheet. Independent predictors of MBF and MMD were determined using multivariate linear regression analyses adjusted for age, sex and the number of present teeth. RESULTS: MBF was significantly correlated with the number of teeth (ß = 0.577, P < .001) and MMD (ß = 0.302, P = .015), but not with MMT (ß = 0.019, P = .868) or MMEI (ß = 0.054 P = .703). MMD was significantly correlated with MMEI (ß = -0.606, P < .001), but not with MMT (ß = 0.048, P = .681) or the number of teeth (ß = 0.065, P = .613). CONCLUSIONS: MMEI was associated with MMD, an index of MBF, regardless of tooth number. The age-related quality change in the MM might cause a decrease in its contraction, resulting in age-related decline in MBF.
Assuntos
Força de Mordida , Músculo Masseter , Idoso , Nível de Saúde , Humanos , Vida Independente , Força MuscularRESUMO
Cerebral sinovenous thrombosis (CSVT) is a rare but not a negligible complication in pediatric brain tumor. An 11-year-old male with suprasellar germ cell tumor developed treatment-related vascular complications of CSVT and subdural hematoma. The underlying mechanism of CSVT was attributed to multiple risk factors, such as adipsic diabetes insipidus, obesity, central apnea, and chemotherapy-induced endothelial injury. In an attempt to minimize the possible risk of vascular complications, including late effect in pediatric brain tumors, we would like to stress the importance of individualized supportive therapy, i.e., hormone replacement, fluid management, thromboprophylaxis, and bi-level positive airway pressure therapy.
Assuntos
Diabetes Insípido/complicações , Germinoma/complicações , Hematoma Subdural/complicações , Neoplasias Hipofisárias/complicações , Trombose dos Seios Intracranianos/complicações , Anticoagulantes , Criança , Tratamento Farmacológico , Germinoma/diagnóstico , Hematoma Subdural/terapia , Humanos , Masculino , Obesidade/complicações , Trombose dos Seios Intracranianos/terapiaRESUMO
Liver fibrosis is one of the common complications of transient myeloproliferative disorder (TMD) in Down syndrome (DS), but the exact molecular pathogenesis is largely unknown. We herein report a neonate of DS with liver fibrosis associated with TMD, in which we performed the serial profibrogenic cytokines analyses. We found the active monocyte chemoattractant protein-1 expression in the affected liver tissue and also found that both serum and urinary monocyte chemoattractant protein-1 concentrations are noninvasive biomarkers of liver fibrosis. We also showed a prospective of the future anticytokine therapy with herbal medicine for the liver fibrosis associated with TMD in DS.
Assuntos
Quimiocina CCL2/análise , Síndrome de Down/complicações , Reação Leucemoide/complicações , Cirrose Hepática/diagnóstico , Biomarcadores , Citocinas/análise , Diagnóstico Diferencial , Humanos , Recém-Nascido , Fígado/química , Fígado/patologia , Cirrose Hepática/etiologiaRESUMO
Gemella is a facultative anaerobic Gram-positive coccus and a rare cause of infective endocarditis (IE). Gram staining may eventually misidentify the organism, which tends to easily decolorize and manifest as either Gram-negative or Gram-variable. Commercial biochemical tests are often used to identify Gemella, but the methods they employ sometimes lack accuracy. A 52-year-old woman was diagnosed with Gemella taiwanensis IE after initial identification of the pathogen as Gemella haemolysans using biochemical tests combined with matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS). She was treated successfully with penicillin, gentamicin, and mitral valve replacement. To our knowledge, this is the first case of IE confirmed by 16S rRNA gene and groEL sequencing to have been caused by G. taiwanensis. The accurate diagnosis of rare or difficult-to-identify pathogens is a major challenge for clinical microbiological laboratories. The concurrent use of molecular methods could lead to the recognition of new or different pathogens.
Assuntos
Endocardite Bacteriana , Gemella , Infecções por Bactérias Gram-Positivas , Antibacterianos/uso terapêutico , Proteínas de Bactérias/genética , Chaperonina 60/genética , DNA Bacteriano/análise , DNA Bacteriano/genética , Endocardite Bacteriana/diagnóstico , Endocardite Bacteriana/tratamento farmacológico , Endocardite Bacteriana/microbiologia , Feminino , Gemella/classificação , Gemella/genética , Infecções por Bactérias Gram-Positivas/diagnóstico , Infecções por Bactérias Gram-Positivas/tratamento farmacológico , Infecções por Bactérias Gram-Positivas/microbiologia , Humanos , Pessoa de Meia-Idade , Filogenia , RNA Ribossômico 16S/genéticaRESUMO
The newly developed rapid diagnostic test (RDT, DK14-CA1, Denka Seiken Co., Ltd.) to detect Campylobacter antigen was evaluated using fecal specimens of patients with enteritis. The RDT is an immunochromatographic assay using colored latex and can detect Campylobacter antigen (C. jejuni and C. coli) from patients' stool samples within 15 minutes. A total of 227 stool samples obtained from patients with enteritis were examined and the results were compared with conventional culture methods. Overall sensitivity, specificity, accuracy and positive predictive value (PPV) were 75.6%, 98.6%, 89.9% and 97.0% respectively. Among 53 severe cases defined with their clinical findings, sensitivity, specificity, accuracy and PPV were 82.1%, 100%, 90.6% and 100% respectively. Mean time to obtain the result with the RDT was 7 minutes whereas the culture method took 2.2 days. This study revealed the usefulness of the newly developed RDT as a rapid detection tool for Campylobacter antigen. Although the RDT has a little lower sensitivity compared with culture method, the simple and rapid test can contribute to treatment decisions for patients with enteritis and can be used at the patient's bedside and in outpatient clinics.
Assuntos
Antígenos de Bactérias/análise , Infecções por Campylobacter/microbiologia , Campylobacter/isolamento & purificação , Enterite/microbiologia , Imunoensaio/métodos , Antígenos de Bactérias/imunologia , Campylobacter/imunologia , HumanosAssuntos
COVID-19 , SARS-CoV-2 , Aleitamento Materno , Feminino , Humanos , Transmissão Vertical de Doenças Infecciosas , Leite HumanoRESUMO
Stem cell factor (SCF) known as the c-kit ligand is a two disulfide bridge-containing cytokine in the regulation of the development and function of hematopoietic cell lineages and other cells such as mast cells, germ cells, and melanocytes. The secreted soluble form of SCF exists as noncovalently associated homodimer and exerts its activity by signaling through the c-Kit receptor. In this report, we present the high level expression of a soluble recombinant human SCF (rhSCF) in Escherichia coli. A codon-optimized Profinity eXact™-tagged hSCF cDNA was cloned into pET3b vector, and transformed into E. coli BL21(DE3) harboring a bacterial thioredoxin coexpression vector. The recombinant protein was purified via an affinity chromatography processed by cleavage with sodium fluoride, resulting in the complete proteolytic removal the N-terminal tag. Although almost none of the soluble fusion protein bound to the resin in standard protocol using 0.1M sodium phosphate buffer (pH 7.2), the use of binding buffer containing 0.5M l-arginine for protein stabilization dramatically enhanced binding to resin and recovery of the protein beyond expectation. Also pretreatment by Triton X-114 for removing endotoxin was effective for affinity chromatography. In chromatography performance, l-arginine was more effective than Triton X-114 treatment. Following Mono Q anion exchange chromatography, the target protein was isolated in high purity. The rhSCF protein specifically enhanced the viability of human myeloid leukemia cell line TF-1 and the proliferation and maturation of human mast cell line LAD2 cell. This novel protocol for the production of rhSCF is a simple, suitable, and efficient method.
Assuntos
Arginina/química , Cromatografia de Afinidade/métodos , Escherichia coli/genética , Proteínas Recombinantes de Fusão/metabolismo , Fator de Células-Tronco/metabolismo , Tiorredoxinas/metabolismo , Sequência de Aminoácidos , Arginina/metabolismo , Sequência de Bases , Linhagem Celular , Sobrevivência Celular/efeitos dos fármacos , Humanos , Dados de Sequência Molecular , Proteínas Recombinantes de Fusão/química , Proteínas Recombinantes de Fusão/isolamento & purificação , Proteínas Recombinantes de Fusão/toxicidade , Fator de Células-Tronco/química , Fator de Células-Tronco/isolamento & purificação , Fator de Células-Tronco/toxicidade , Tiorredoxinas/química , Tiorredoxinas/genética , Tiorredoxinas/isolamento & purificaçãoRESUMO
We report a 10-year-old male with relapsing Ph-like acute lymphoblastic leukemia (ALL) bearing ATF7IP/PDGFRB translocation. He was refractory to conventional therapy, and was finally treated with single-agent second-generation TKI dasatinib. The therapeutic response was prompt, with the disappearance of minimum residual disease (MRD) based on genomic PCR analysis within 3 months, and he has maintained complete molecular remission for 12 months. This case report describes an early-phase response to TKI monotherapy on Ph-like ALL, and technical tips for MRD monitoring on long-term follow-up.
Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Proteínas Tirosina Quinases/antagonistas & inibidores , Pirimidinas/uso terapêutico , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Tiazóis/uso terapêutico , Fatores de Transcrição/genética , Translocação Genética , Criança , Dasatinibe , Humanos , Masculino , Neoplasia Residual , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas RepressorasRESUMO
Streptococcal toxic shock syndrome (TSS) is a systemic illness usually caused in the setting of infection by group A Streptococcus (GAS). The primary infections are often invasive infections of the respiratory tract or necrotizing infections of the skin and soft tissue, but some infections occur without relevant focus. GAS vaginitis is a rare condition among adult women and is accordingly thought to be uncommon as a cause of streptococcal TSS. Here we report the cases of two postmenopausal women with streptococcal TSS secondary to GAS vaginitis, one aged 55 and one aged 60. Both came to our emergency department with complaints or symptoms of abdominal pain, fever, hypotension, and multi-organ failure. In both cases, the relevant factor associated with streptococcal infection was a recent episode of GAS vaginitis. Both underwent fluid management and 14 days of antibiotic treatment and fully recovered without complications. Vaginitis was likely to be the primary infectious trigger of TSS in these two cases. Intrauterine device insertion, endometrial biopsy, and post-partum state have all been previously reported in TSS patients, and the female genital tract has been described as a portal of entry. GAS vaginitis warrants appropriate treatment as it may progress to severe systemic infection as described.
Assuntos
Choque Séptico/diagnóstico , Choque Séptico/microbiologia , Infecções Estafilocócicas/diagnóstico , Streptococcus pyogenes/isolamento & purificação , Vaginose Bacteriana/diagnóstico , Feminino , Humanos , Infecções Intra-Abdominais/diagnóstico , Infecções Intra-Abdominais/tratamento farmacológico , Infecções Intra-Abdominais/microbiologia , Pessoa de Meia-Idade , Choque Séptico/tratamento farmacológico , Infecções Estafilocócicas/tratamento farmacológico , Streptococcus pyogenes/efeitos dos fármacos , Vaginose Bacteriana/tratamento farmacológicoRESUMO
Most mediastinal abscesses result from infections after thoracotomy, esophageal perforation or pene- trating chest trauma. This disease is rarely caused by closed blunt chest trauma. All previously reported such cases after closed blunt chest trauma presented with hematoma and sternal osteomyelitis resulting from sternal fracture. Here we report a 15-year-old sumo wrestler who presented with an anterior mediastinal abscess without any mediastinal fracture. The mediastinal abscess resulted from the hematogenous spread of Staphylococcus aureus to a hematoma that might have been caused by a closed blunt chest trauma incurred during sumo wrestling exercises.
Assuntos
Abscesso/microbiologia , Abscesso/terapia , Doenças do Mediastino/microbiologia , Doenças do Mediastino/terapia , Infecções Estafilocócicas/microbiologia , Infecções Estafilocócicas/terapia , Traumatismos Torácicos/microbiologia , Traumatismos Torácicos/terapia , Ferimentos não Penetrantes/microbiologia , Ferimentos não Penetrantes/terapia , Luta Romana/lesões , Abscesso/diagnóstico , Adolescente , Antibacterianos/uso terapêutico , Terapia Combinada , Desbridamento , Diagnóstico Diferencial , Drenagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças do Mediastino/diagnóstico , Infecções Estafilocócicas/diagnóstico , Traumatismos Torácicos/diagnóstico , Tomografia Computadorizada por Raios X , Ferimentos não Penetrantes/diagnósticoRESUMO
We identified ATF7IP as a novel PDGFRB fusion partner in B-progenitor acute lymphoblastic leukaemia (B-ALL) and showed that B-ALL with ATF7IP/PDGFRB translocation is included within the genomic lesions of a Philadelphia chromosome (Ph)-like ALL subgroup. Comprehensive analyses of previous repositories of gene expression data sets disclosed that B-ALL cases with high PDGFRB expression level in the context of the Ph-like ALL gene are likely to have a PDGFRB translocation. Thus, it is possible that measurement of the PDGFRB expression level can be utilized as a screening test for the detection of the cryptic PDGFRB translocation, especially within the Ph-like ALL subgroup.