RESUMO
In vertebrate development, ectoderm is specified into neural plate (NP), neural plate border (NPB), and epidermis. Although such patterning is thought to be achieved by molecular concentration gradients, it has been revealed, mainly by in vitro analysis, that mechanical force can regulate cell specification. During in vivo patterning, cells deform and migrate, and this applies force to surrounding tissues, shaping the embryo. However, the role of mechanical force for cell specification in vivo is largely unknown. In this study, with an aspiration assay and atomic force microscopy, we have demonstrated that tension on ectodermal cells decreases laterally from the midline in Xenopus early neurula. Ectopically applied force laterally expanded the neural crest (NC) region, a derivative of the NPB, whereas force relaxation suppressed it. Furthermore, force application activated both the FGF and Wnt pathways, which are required for NC formation during neuroectodermal patterning. Taken together, mechanical force is necessary for NC formation in order to regulate signaling pathways. Furthermore, molecular signals specify the NP and generate force on neighboring tissue, the NPB, with its closure. This force activates signals, possibly determining the appropriate width of a narrow tissue, the NC.
Assuntos
Crista Neural , Proteínas de Xenopus , Animais , Crista Neural/fisiologia , Xenopus laevis/metabolismo , Proteínas de Xenopus/metabolismo , Ectoderma/metabolismo , Via de Sinalização Wnt , Regulação da Expressão Gênica no DesenvolvimentoRESUMO
RATIONALE AND OBJECTIVES: To examine the diagnostic performance of a three-compartment diffusion model with the fixed cut-off diffusion coefficient (D) using magnetic resonance spectral diffusion analysis for differentiating between invasive ductal carcinoma (IDC) and ductal carcinoma in situ (DCIS) and compare the conventional apparent D (ADC), and mean kurtosis (MK), with the tissue D (DIVIM), perfusion D (D*IVIM), and perfusion fraction (fIVIM) calculated by conventional intravoxel incoherent motion. PATIENTS AND METHODS: This retrospective study included women who underwent breast MRI with eight b-value diffusion-weighted imaging between February 2019 and March 2022. Spectral diffusion analysis was performed; very-slow, cellular, and perfusion compartments were defined using cut-off Ds of 0.1 × 10-3 and 3.0 × 10-3 mm2/s (static water D). The mean D (Ds, Dc, Dp, respectively) and fraction F (Fs, Fc, Fp, respectively) for each compartment were calculated. ADC and MK values were also calculated; receiver operating characteristic analyses were performed. RESULTS: Histologically confirmed 132 ICD and 62 DCIS (age range 31-87 [53 ± 11] years) were evaluated. The areas under the curve (AUCs) for ADC, MK, DIVIM, D*IVIM, fIVIM, Ds, Dc, Dp, Fs, Fc, and Fp were 0.77, 0.72, 0.77, 0.51, 0.67, 0.54, 0.78, 0.51, 0.57, 0.54, and 0.57, respectively. The AUCs for the model combining very-slow and cellular compartments and the model combining the three compartments were 0.81 each, slightly and significantly higher than for ADC, DIVIM, and Dc (P = 0.09-0.14); and MK (P < 0.05), respectively. CONCLUSION: Three-compartment model analysis using the diffusion spectrum accurately differentiated IDC from DCIS; however, it was not superior to ADC and DIVIM. The diagnostic performance of MK was lower than that of the three-compartment model.
Assuntos
Neoplasias da Mama , Carcinoma Intraductal não Infiltrante , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/patologia , Estudos Retrospectivos , Imageamento por Ressonância Magnética , Imagem de Difusão por Ressonância Magnética/métodos , Movimento (Física)RESUMO
A schoolteacher's job is considered one of the most stressful occupations globally. The coronavirus disease 2019 pandemic has posed further challenges for schoolteachers. This study aimed to examine the effects of the pandemic on primary school teachers' stress responses in Japan. We analyzed the data from a nationwide survey of public-school teachers conducted between June 2019 and December 2021. The total numbers of participants were 65,968 in 2019, 72,248 in 2020, and 75,435 in 2021. Working hours and perceived main stressors as well as stress response scores were assessed. Contrary to expectations, the results showed that the stress response scores among primary school teachers did not increase in the first year of the pandemic. Rather, the stress response scores and the proportion of high-stress teachers significantly decreased from the pre-pandemic year (2019) to the first year of the pandemic (2020). However, the stress response scores showed a rising trend in the second year of the pandemic (2021). Participants' working hours decreased from 2019 to 2021. The findings in relation to teachers' main stressors matched these trends. Continuous monitoring of teachers' stress levels is required both during and after the pandemic.
Assuntos
COVID-19 , Professores Escolares , Humanos , Japão/epidemiologia , Pandemias , COVID-19/epidemiologia , Instituições AcadêmicasRESUMO
OBJECTIVE: The study aimed to investigate the neonatal outcomes of infants born to mothers on hemodialysis. STUDY DESIGN: This retrospective, case-control, and observational study included 17 infants born to 16 mothers on dialysis in 2003 to 2016. We compared their clinical characteristics to those of 51 gestational age- and sex-matched control infants. Statistical comparisons were made between the two groups by using the Wilcoxon-Mann-Whitney test for continuous variables and the Chi-square test or Fisher's exact test for categorical variables. RESULTS: Of the 16 pregnancies of mothers on dialysis, 15 (94%) deliveries were premature (<37 weeks), and 16/17 (94%) infants survived to discharge. The incidences of neonatal complications, such as intraventricular hemorrhage, bronchopulmonary dysplasia, patent ductus arteriosus, and periventricular leukomalacia, were not significantly different between the groups. However, 5/17 (29%) of the infants had congenital anomalies. CONCLUSION: Although infants born to mothers on dialysis have a high risk of prematurity, they do not have any additional risk of neonatal complications, except for congenital anomalies. The potential risk of congenital anomalies should be investigated further. KEY POINTS: · Preterm birth rate among mothers on hemodialysis was 94%.. · Complications in these infants were similar to controls.. · Twenty-nine percent of infants had congenital anomalies..
Assuntos
Mortalidade Infantil , Nascimento Prematuro , Gravidez , Recém-Nascido , Lactente , Humanos , Feminino , Estudos de Casos e Controles , Estudos Retrospectivos , Diálise Renal , Idade GestacionalRESUMO
BACKGROUND AND PURPOSE: To examine the diagnostic performance of unsupervised deep learning using a 3D variational autoencoder (VAE) for detecting and localizing inner ear abnormalities on CT images. METHOD: Temporal bone CT images of 6663 normal inner ears and 113 malformations were analyzed. For unsupervised learning, 113 images from both the malformation and normal cases were used as test data. Other normal images were used for training. A colored difference map representing differences between input and output images of 3D-VAE and the ratio of colored to total pixel numbers were calculated. Supervised learning was also investigated using a 3D deep residual network and all data were classified as normal or malformation using 10-fold cross-validation. RESULTS: For unsupervised learning, a significant difference in the colored pixel ratio was seen between normal (0.00021 ± 0.00022) and malformation (0.00148 ± 0.00087) cases with an area under the curve of 0.99 (specificity = 92.0%, sensitivity = 99.1%). Upon evaluation of the difference map, abnormal regions were partially and not highlighted in 7% and 0% of the malformations, respectively. For supervised learning, which achieved 99.8% specificity and 90.3% sensitivity, a part of and no abnormal regions were highlighted on interpretation maps in 34% and 8% of the malformations, respectively. Abnormal regions were not highlighted in 4 malformation cases diagnosed as malformations and were highlighted in 6 cases misdiagnosed as normal. CONCLUSIONS: Unsupervised deep learning of 3D-VAE precisely detected inner ear malformations and localized abnormal regions. Supervised learning did not identify whole abnormal regions frequently and basis for diagnosis was sometimes unclear.
Assuntos
Aprendizado Profundo , Orelha Interna , Orelha Interna/anormalidades , Orelha Interna/diagnóstico por imagem , Osso Temporal , Tomografia Computadorizada por Raios XRESUMO
The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.
Assuntos
Transtornos Cromossômicos , Síndrome de Down , Aneuploidia , Aberrações Cromossômicas , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Feminino , Humanos , Gravidez , Gravidez de Gêmeos , Prevalência , Estudos Retrospectivos , Trissomia/genéticaRESUMO
AIM: This study aimed to summarize cases of successful pregnancy and delivery in patients with transposition of the great arteries (TGA) after atrial switch operation (ASO), to provide management, clinical experience, and maternal and fetal outcomes. METHODS: During a 16-year period (2004-2019), we experienced 30 pregnancies in 15 patients after ASO at our institution. We retrospectively reviewed the medical records of the patients. RESULTS: In 30 pregnancies, there were 21 (70%) live births, five (17%) miscarriages, and four (13%) artificial abortions. There were no maternal or neonatal deaths. Cardiac complications occurred in nine (43%) patients: deterioration of right ventricular (RV) function in one, symptomatic heart failure (HF) in three, supraventricular tachyarrhythmia requiring electrical cardioversion in two, sick sinus syndrome that required pacemaker implantation in two, and hemoptysis in one. Obstetric complications occurred in five (24%). Neonatal complications were premature births (delivery at <37 weeks of gestation) in 15 (71%), and birthweight <2500 g in 18 (86%). The mode of delivery consisted of vaginal delivery (VD) in five (24%), and cesarean section (CS) in 16 (76%). CONCLUSION: A high incidence of preterm CS and cardiac complications including deterioration of RV function was observed in patients who had undergone ASO for TGA.
Assuntos
Transposição das Grandes Artérias , Complicações Cardiovasculares na Gravidez , Transposição dos Grandes Vasos , Transposição das Grandes Artérias/efeitos adversos , Artérias , Cesárea , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações Cardiovasculares na Gravidez/cirurgia , Resultado da Gravidez , Estudos Retrospectivos , Transposição dos Grandes Vasos/cirurgiaRESUMO
Objectives: A school teacher's job is considered one of the most stressful occupations worldwide. To maintain the mental health of teachers, it is crucial to clarify the factors affecting work-related stress among teachers. The present study thus aimed to examine the main stressors among primary school teachers considering the difference in job positions by using data from a large-scale nationwide survey. Methods: We analyzed the data from a nationwide survey of public school teachers conducted between June and December 2021. The total number of participants was 138,651. The information of perceived main stressors, working hours per day, job workloads, job control, workplace support, and stress response scores were assessed by job position. Results: Among all teachers' job positions, the working hours of vice-principals were the longest, but their stress response scores were the second lowest. In contrast, the stress response scores among diet and nutrition teachers and health education teachers were the highest; their supervisors' and co-workers' support scores were the lowest among all teachers. Quantitative and qualitative workloads, job control, workplace support from supervisors and co-workers are significantly associated with teachers' stress responses in all job positions. Perceived main stressors among teachers were different depending on job positions. However, regardless of job positions, relationships with supervisors and co-workers were significantly associated with stress response scores among teachers. Dealing with difficult students and parents as well as workloads of clerical tasks were also associated with teachers' stress responses depending on job positions. Conclusions: Perceived main stressors among teachers were different depending on job positions. However, relationships with supervisors and co-workers were significantly associated with stress response levels among teachers regardless of job positions. This study highlighted the importance of interpersonal relationships at the workplace in terms of teachers' mental health. The results suggest that providing interpersonal skills training targeting co-workers' relationships and harassment prevention measures would be crucial to maintain teachers' mental health. The results also suggest that increasing school staff and providing sufficient organizational support for teachers will be required to prevent teachers' burnout.
Assuntos
Estresse Ocupacional , Professores Escolares , Humanos , Professores Escolares/psicologia , Japão , Estresse Ocupacional/epidemiologia , Estresse Ocupacional/psicologia , Instituições Acadêmicas , OcupaçõesRESUMO
While compelling illusions of self-motion (vection) can be induced purely by visual motion, they are rarely experienced immediately. This vection onset latency is thought to represent the time required to resolve sensory conflicts between the stationary observer's visual and nonvisual information about self-motion. In this study, we investigated whether manipulations designed to increase the weightings assigned to vision (compared to the nonvisual senses) might reduce vection onset latency. We presented two different types of visual priming displays directly before our main vection-inducing displays: (1) 'random motion' priming displays - designed to pre-activate general, as opposed to self-motion-specific, visual motion processing systems; and (2) 'dynamic no-motion' priming displays - designed to stimulate vision, but not generate conscious motion perceptions. Prior exposure to both types of priming displays was found to significantly shorten vection onset latencies for the main self-motion display. These experiments show that vection onset latencies can be reduced by pre-activating the visual system with both types of priming display. Importantly, these visual priming displays did not need to be capable of inducing vection or conscious motion perception in order to produce such benefits.
Assuntos
Ilusões , Percepção de Movimento , Humanos , Percepção de Movimento/fisiologia , Percepção Visual , Movimento (Física) , SensaçãoRESUMO
Primary squamous cell carcinoma of the thyroid (PSCCT) is a rare disease with a poor prognosis. Because of its rarity, there is no established therapeutic regimen in unresectable cases. We report a case of PSCCT treated with weekly paclitaxel (wPTX) for more than 2 years. A 59-year-old woman presented to our hospital with a progressively enlarging neck mass. CT and MRI scans showed a tumor arising from the right lobe of the thyroid, invading the esophagus and trachea, as well as partially surrounding and invading the right common carotid artery. It was deemed unresectable. Biopsy revealed poorly differentiated squamous cell carcinoma. wPTX therapy was initiated. The patient achieved a partial response and is still undergoing treatment 28 months later. Adverse events included grade 3 neutropenia and grade 2 peripheral sensory neuropathy, which were manageable. Long-term wPTX therapy has been effective in this case of unresectable PSCCT.
Assuntos
Carcinoma de Células Escamosas , Neoplasias da Glândula Tireoide , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/tratamento farmacológico , Carcinoma de Células Escamosas/patologia , Pré-Escolar , Feminino , Humanos , Paclitaxel , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/patologiaRESUMO
AIM: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women. METHODS: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age-specific PPV and NPV were estimated. RESULTS: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78-99.96), 99.12% (95% CI: 96.83-99.76), and 100% (95% CI: 88.30-100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age-specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. CONCLUSION: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high-risk pregnant women, and maternal age-specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan.
Assuntos
Síndrome de Down , Teste Pré-Natal não Invasivo , Adulto , Feminino , Humanos , Japão , Laboratórios , Gravidez , Diagnóstico Pré-Natal , TrissomiaRESUMO
OBJECTIVE: We present a case of successful pregnancy in a patient who underwent limb-sparing hemipelvectomy combined with multi-agent chemotherapy and radiotherapy for Ewing sarcoma. CASE REPORT: A 17-year-old girl was diagnosed with Ewing sarcoma of the left pelvis at the age of 17 and received limb-sparing hemipelvectomy combined with multi-agent chemotherapy and radiotherapy. The patient received oral contraceptives as hormone replacement therapy after completion of treatment. A normal menstruation cycle restored after the withdrawal of oral contraceptives. The patient spontaneously conceived at the age of 25. The patient complained of difficulty walking due to pelvic distortion during pregnancy and delivered a healthy neonate at term by cesarean section. CONCLUSION: Successful pregnancy and delivery can be achieved after limb-sparing hemipelvectomy combined with chemotherapy and radiotherapy for Ewing sarcoma. Our report provides important information on perinatal management, given the low incidence of pregnancy following treatment of Ewing sarcoma in the pelvis.
Assuntos
Neoplasias Ósseas/fisiopatologia , Fertilização , Hemipelvectomia , Parto , Sarcoma de Ewing/fisiopatologia , Adolescente , Adulto , Neoplasias Ósseas/cirurgia , Quimiorradioterapia , Terapia Combinada , Anticoncepcionais Orais Hormonais , Feminino , Humanos , Nascido Vivo , Ossos Pélvicos , Período Pós-Operatório , Gravidez , Sarcoma de Ewing/cirurgiaRESUMO
PURPOSE: The purpose of this study was to evaluate the usefulness of turbo spin-echo (TSE) DWI with fusion images in the T-staging compared with T2-weighted imaging (T2WI) alone and conventional echo-planner imaging (EPI) DWI. METHODS: In this prospective study, 4-mm-thick axial EPI-DWI, TSE-DWI, and T2WI were performed with the same slice locations for 20 patients with rectal cancer. Fusion images of DWI and T2WI were created for both EPI-DWI and TSE-DWI. Ten readers independently diagnosed the T-stages and scored the degree of confidence referring to T2WI alone and then to DWI, T2WI, and fusion images (DWI+T2WI) for each EPI-DWI and TSE-DWI. Visual score assessments of image quality were performed for each DWI. RESULTS: Inter-observer agreement of T-staging for 10 readers was slight on T2WI alone but fair on EPI-DWI+T2WI and excellent on TSE-DWI+T2WI images. No readers gave higher confidence scores for T2WI compared to EPI/TSE-DWI+T2WI and for EPI-DWI+T2WI compared to TSE-DWI+T2WI. In seven pathologically-proven cases, poor, poor to slight, and fair to perfect agreements with the pathological T-stage were observed with T2WI alone, EPI-DWI+T2WI, and TSE-DWI+T2WI, respectively. All readers gave higher scores regarding image distortion and lower scores regarding image noise for TSE-DWI compared to EPI-DWI. For DWI utility, higher scores were assigned for TSE-DWI compared to EPI-DWI in 7 readers and there were no significant differences in the other 3 readers. CONCLUSION: TSE-DWI images might be more appropriate for image fusion with T2WI and rectal cancer T-staging compared with EPI-DWI and T2WI alone.
Assuntos
Imagem de Difusão por Ressonância Magnética , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/patologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Razão Sinal-RuídoRESUMO
Clarifying temporal changes in magnetic resonance imaging (MRI) offers a good chance to understand the pathology of neural lesions; however, such information is scarce in varicella zoster virus (VZV) neuropathies for the glossopharyngeal and vagus nerves. Here, we present the changes in sequential MR images of such a pathology over a period of 12 months from symptom onset.A 27-year-old woman with difficulty in swallowing and hoarseness due to a palatal palsy and arytenoid fixation on the left presented 2 days after onset. MRI revealed a lesion which largely filled the left jugular foramen on T2-weighted images (T2-WI) with high diffusion-weighted imaging (DWI) signals, which has never been previously described, on the 3rd day after onset. The DWI signals were highest on day 3, then deteriorated over 2 months until the signal was only detectable at the intracranial level, but not in the jugular foramen. The glossopharyngeal nerve had returned to normal by 2 months.The time course of the glossopharyngeal and vagus nerve swelling detected on T2-WI suggests that nerve swelling reduces over several months, even though the paralytic symptoms persist. Furthermore, the high DWI signal suggests that nerve swelling was caused by edematous swelling of the nerve fibers, rather than fiber disruption with water displacement in the extracellular space. These findings may provide good clues to speculate on the dynamically changing pathology of VZV neuropathies of the glossopharyngeal and vagus nerves.
Assuntos
Doenças do Nervo Glossofaríngeo/diagnóstico por imagem , Doenças do Nervo Glossofaríngeo/virologia , Doenças do Nervo Vago/diagnóstico por imagem , Doenças do Nervo Vago/virologia , Infecção pelo Vírus da Varicela-Zoster/diagnóstico por imagem , Adulto , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Forâmen Jugular/diagnóstico por imagem , Neuroimagem/métodos , Infecção pelo Vírus da Varicela-Zoster/patologiaRESUMO
The purpose of this study was to examine differences in texture features between olfactory neuroblastoma (ONB) and sinonasal squamous cell carcinoma (SCC) on contrast-enhanced CT (CECT) images, and to evaluate the predictive accuracy of texture analysis compared to radiologists' interpretations. Forty-three patients with pathologically-diagnosed primary nasal and paranasal tumor (17 ONB and 26 SCC) were included. We extracted 42 texture features from tumor regions on CECT images obtained before treatment. In univariate analysis, each texture features were compared, with adjustment for multiple comparisons. In multivariate analysis, the elastic net was used to select useful texture features and to construct a texture-based prediction model with leave-one-out cross-validation. The prediction accuracy was compared with two radiologists' visual interpretations. In univariate analysis, significant differences were observed for 28 of 42 texture features between ONB and SCC, with areas under the receiver operating characteristic curve between 0.68 and 0.91 (median: 0.80). In multivariate analysis, the elastic net model selected 18 texture features that contributed to differentiation. It tended to show slightly higher predictive accuracy than radiologists' interpretations (86% and 74%, respectively; P = 0.096). In conclusion, several texture features contributed to differentiation of ONB from SCC, and the texture-based prediction model was considered useful.
Assuntos
Carcinoma de Células Escamosas/diagnóstico por imagem , Estesioneuroblastoma Olfatório/diagnóstico por imagem , Cavidade Nasal/diagnóstico por imagem , Neoplasias Nasais/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
Fertilization occurs as the culmination of multi-step complex processes. First, mammalian spermatozoa undergo the acrosome reaction to become fusion-competent. Then, the acrosome-reacted spermatozoa penetrate the zona pellucida and adhere to and finally fuse with the egg plasma membrane. IZUMO1 is the first sperm protein proven to be essential for sperm-egg fusion in mammals, as Izumo1 knockout mouse spermatozoa adhere to but fail to fuse with the oolemma. However, the IZUMO1 function in other species remains largely unknown. Here, we generated Izumo1 knockout rats by CRISPR/Cas9 and found the male rats were infertile. Unlike in mice, Izumo1 knockout rat spermatozoa failed to bind to the oolemma. Further investigation revealed that the acrosome-intact sperm binding conceals a decreased number of the acrosome-reacted sperm bound to the oolemma in Izumo1 knockout mice. Of note, we could not see any apparent defects in the binding of the acrosome-reacted sperm to the oolemma in the mice lacking recently found fusion-indispensable genes, Fimp, Sof1, Spaca6, or Tmem95. Collectively, our data suggest that IZUMO1 is required for the sperm-oolemma binding prior to fusion at least in rat.
RESUMO
OBJECTIVE: Maternal characteristics and neonatal outcomes associated with cell-free DNA (cfDNA) results were analysed retrospectively to assess the details of false-positive and false-negative results after initial blood sampling in non-invasive prenatal testing (NIPT). STUDY DESIGN: A multicentre retrospective study was performed for women undergoing NIPT who received discordant cfDNA results between April 2013 and March 2018. The NIPT data obtained using massive parallel sequencing were studied in terms of maternal background, fetal fraction, z-scores, invasive procedure results and neonatal outcomes after birth. RESULTS: Of the 56,545 women who participated in this study, 54 false-positive (0.095 %) and three false-negative (0.006 %) cases were found. Seven of the 54 false-positive cases (13.0 %) had vanishing twin on ultrasonography. Among the 18 false-positive cases of trisomy 18, confined placental mosaicism (CPM) was confirmed in three cases (16.7 %), while CPM was present in one of the three false-negative cases of trisomy 21. CONCLUSION: These data suggest that the incidence of women with false-positive or false-negative results is relatively low, that such false results can often be explained, and that vanishing twin and CPM are potential causes of NIPT failure. Genetic counselling with regard to false results is important for clients prior to undergoing NIPT.
Assuntos
Síndrome de Down , Trissomia , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Trissomia/diagnóstico , Trissomia/genética , Síndrome da Trissomía do Cromossomo 18RESUMO
PURPOSE: To evaluate the detectability of breast cancer and visibility of the tumor extent using 70-kV single-energy contrast-enhanced (CE) breast computed tomography (70-kV CECT) compared with CE breast magnetic resonance imaging (CEMR). METHODS: Between 2013 and 2015, 110 patients with 112 breast cancer lesions who underwent breast surgery after undergoing both 70-kV CECT and CEMR were enrolled. The major axis lengths of the breast lesion were measured and compared with the pathologically determined major axes. Agreement in the measured major axes was evaluated using the intra-class correlation coefficient (ICC). RESULTS: Both 70-kV CECT and CEMR depicted all breast cancer lesions. The mean major axis was 3.0 (95% confidence interval [CI], 2.5-3.4) cm on CECT and 2.9 (2.6-3.3) cm on CEMR. The mean differences between the pathologically and radiologically measured major axes on 70-kV CECT and CEMR were 0.9 (0.7-1.1) and 1.0 (0.8-1.2) cm, respectively. The accuracy of the radiological major axes compared with the pathological major axes was 82.1% and 80.4% on CECT and CEMR, respectively (p = 0.81). The major axes on the two modalities demonstrated moderate agreement (ICC = 0.69, 95% CI 0.58-0.77). Pathologically and radiologically measured major axes on 70-kV CECT and CEMR demonstrated excellent agreement (ICC = 0.91, 95% CI 0.93-0.96). CONCLUSIONS: Low-tube voltage (70-kV) CECT is the preferred modality to identify breast cancer lesions and tumor extent for preoperative planning because it has a similar diagnostic ability to CEMR and can be performed in the supine position.
Assuntos
Neoplasias da Mama , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/cirurgia , Meios de Contraste , Feminino , Humanos , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. METHODS: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. RESULTS: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. CONCLUSIONS: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women.
Assuntos
Emoções , Resultados Negativos , Teste Pré-Natal não Invasivo , Parto/psicologia , Gestantes/psicologia , Tomada de Decisões , Feminino , Aconselhamento Genético/psicologia , Humanos , Japão/epidemiologia , Gravidez , Pesquisa Qualitativa , Meio Social , Inquéritos e QuestionáriosRESUMO
We prospectively evaluated thin-slice coronal turbo spin-echo (TSE) diffusion-weighted imaging (DWI) covering a larger area with the recently-developed techniques on a 3T MRI scanner, compared with echo-planar imaging (EPI)-DWI in patients undergoing routine hand MRI. Visual score assessment and apparent diffusion coefficient (ADC) measurement were performed for patients with suspected hand tumors. TSE-DWI was superior to EPI-DWI, with less image distortion. The visual score and ADC comparison assessments proved that the image noise of TSE-DWI was acceptable.