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1.
Nat Commun ; 15(1): 3330, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38684656

RESUMO

Meiotic prophase progression is differently regulated in males and females. In males, pachytene transition during meiotic prophase is accompanied by robust alteration in gene expression. However, how gene expression is regulated differently to ensure meiotic prophase completion in males remains elusive. Herein, we identify HSF5 as a male germ cell-specific heat shock transcription factor (HSF) for meiotic prophase progression. Genetic analyzes and single-cell RNA-sequencing demonstrate that HSF5 is essential for progression beyond the pachytene stage under non-stress conditions rather than heat stress. Chromatin binding analysis in vivo and DNA-binding assays in vitro suggest that HSF5 binds to promoters in a subset of genes associated with chromatin organization. HSF5 recognizes a DNA motif different from typical heat shock elements recognized by other canonical HSFs. This study suggests that HSF5 is an atypical HSF that is required for the gene expression program for pachytene transition during meiotic prophase in males.


Assuntos
Fatores de Transcrição de Choque Térmico , Prófase Meiótica I , Espermatogênese , Camundongos , Masculino , Fatores de Transcrição de Choque Térmico/metabolismo , Camundongos Knockout , Camundongos Endogâmicos C57BL , Testículo/metabolismo , Resposta ao Choque Térmico , Feminino
2.
J Radiol Prot ; 43(4)2023 12 08.
Artigo em Inglês | MEDLINE | ID: mdl-38035396

RESUMO

An anonymous web-based survey was developed to check different aspects (SHAMISEN SINGS project): stakeholder awareness and perceptions of available mobile applications (apps) for measuring ionising radiation doses and health/well-being indicators; whether they would be ready to use them in the post-accidental recovery; and what are their preferred methodologies to acquire information etc. The results show that participation of the citizens would be most beneficial during post-accident recovery, providing individual measurements of external ionizing dose and health/well-being parameters, with possible follow-up. Also, participants indicated different preferences for sources to gain knowledge on ionising radiation and for the functions that an ideal app should have. The level of awareness and readiness to use apps to measure ionising radiation dose depended on two main aspects: individual differences (age & gender) and whether people were from countries affected by the previous major accidents. We concluded that stakeholders could have benefits from the data management plan: (1) it potentiates resilience at individual and community level; (2) citizens' measurements contribute to environmental monitoring and public health screening; (3) linkages between different types of data (environmental exposure, individual behavioural diaries, and measurements of health indicators) allow to perform more rigorous epidemiological studies.


Assuntos
Telefone Celular , Aplicativos Móveis , Liberação Nociva de Radioativos , Resiliência Psicológica , Humanos , Exposição Ambiental
3.
Taiwan J Obstet Gynecol ; 62(5): 661-666, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37678992

RESUMO

OBJECTIVE: To assess the clinical characteristics and endocrinological background of women with vascular retained products of conception (RPOC) after miscarriage or abortion and evaluate the effect of estrogen-progestogen therapy (EPT) as an initial treatment on this population based on their endocrinological background. MATERIALS AND METHODS: Women with vascular RPOC after miscarriage or abortion at less than 20 weeks of pregnancy who were given EPT (conjugated estrogen and norethisterone) were retrospectively reviewed. Their clinical characteristics, hormonal parameters, ultrasonographic findings, and outcomes were evaluated. RESULTS: Of 35 women with vascular RPOC, 30 (86%) presented with vaginal bleeding at a visit, and 6 (17%) required inpatient management due to heavy bleeding. Among women who presented with vaginal bleeding, serum progesterone levels were significantly lower (0.25 vs. 6.5 ng/mL, p = 0.004) than those in women who did not present with vaginal bleeding. There were no differences in serum hCG levels (10.5 vs. 3.1 mIU/mL) or serum estradiol levels (65.4 vs. 162.3 pg/mL). After withdrawal bleeding following the first course of EPT, vaginal bleeding was stopped in 27 of the 30 women (90%), and 23 (66%) of all women had a thin and linear endometrium. All women could be treated by up to two courses of EPT and did not require additional interventions. The median duration to hCG normalization after the initial EPT was 24.5 (9-88) days. CONCLUSION: Women with vascular RPOC who have no bleeding had significantly higher levels of serum progesterone, indicating that administration of progestogen may have an effect on hemostasis. Endometrial bleeding can be prevented or stopped, and retained tissues can be conservatively expelled by oral administration of EPT, including norethisterone, in women with vascular RPOC.


Assuntos
Aborto Espontâneo , Gravidez , Humanos , Feminino , Aborto Espontâneo/tratamento farmacológico , Progestinas , Progesterona , Estudos Retrospectivos , Estrogênios , Noretindrona , Hemorragia Uterina/tratamento farmacológico , Hemorragia Uterina/etiologia
4.
Int J Clin Oncol ; 28(11): 1563-1572, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37646971

RESUMO

BACKGROUND: Hypogonadism is a significant late complication in childhood cancer survivors (CCS). The aim of this study was to elucidate the advantages and limitations of estrogen replacement therapy (ERT) for CCS with hypogonadism. METHODS: Seventeen CCS were divided into two groups: gonadal hypogonadism (GH) group (n = 8) and central hypogonadism (CH) group (n = 9). Pearson correlation coefficients were used to investigate the impact of cancer management on final height, bone density, and uterine development. RESULTS: Seven of GH group had hematologic malignancies, and all of them underwent total body irradiation before bone marrow transplantation. The GH group showed significant positive correlations between the onset age of disease treatment and final height (p < 0.05, R = 0.712) and uterine size following ERT (p < 0.05, R = 0.775). All CCS in the CH group had brain tumors, and seven of them received chemotherapy. There were trends towards positive and negative correlations between the onset age of disease treatment and final height (p = 0.09, R = 0.598) or uterine size (p = 0.07, R = - 0.669), respectively. A negative correlation trend was observed between the age at ERT initiation and final height (p = 0.07, R = - 0.769) or bone density (p = 0.18, R = - 0.626) in six CH patients who received growth hormone therapy. Five CCS in both groups experienced osteoporosis, despite receiving ERT. CONCLUSION: Individualized management strategies beyond ERT are essential to reduce long-term complications in CCS with hypogonadism, considering the type and timing of cancer treatment.


Assuntos
Neoplasias Encefálicas , Sobreviventes de Câncer , Hipogonadismo , Feminino , Humanos , Criança , Terapia de Reposição de Estrogênios/efeitos adversos , Sobreviventes , Neoplasias Encefálicas/terapia , Hipogonadismo/tratamento farmacológico , Hipogonadismo/etiologia
5.
Sci Rep ; 13(1): 14254, 2023 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-37652956

RESUMO

To investigate the effects of radiation exposure due to the Fukushima nuclear power plant accident, following the disaster Fukushima Prefecture launched thyroid ultrasound examinations of residents who were generally younger than 18 years at the time of the earthquake. As the rate of pediatric thyroid cancer was higher than expected, we conducted biological dose assessment based on the frequency of translocated chromosome (Tr) aberrations using peripheral blood lymphocytes. Tr formation frequency was compared among the thyroid cancer (n = 38, median age 18 years, age range 12-26 years), thyroid-related disease (n = 30, median age 21 years, age range 15-28 years), and healthy controls (n = 31, median age 22 years, age range 20-23 years) groups. Tr aberration frequency was initially significantly higher in the thyroid cancer than in the other two groups; however, differences among the groups disappeared after adjusting for history of CT scan, as 92%, 67%, and 28% of those in the thyroid cancer, thyroid-related disease, and control groups, respectively, had undergone CT previously. Therefore, the significant difference in the initial number of Tr formations is presumably due to radiation exposure from CT. Accordingly, the effects of medical exposure on the chromosomes of children and adolescents should be noted.


Assuntos
Acidente Nuclear de Fukushima , Exposição à Radiação , Neoplasias da Glândula Tireoide , Adolescente , Humanos , Criança , Adulto Jovem , Adulto , Neoplasias da Glândula Tireoide/etiologia , Neoplasias da Glândula Tireoide/genética , Aberrações Cromossômicas , Exposição à Radiação/efeitos adversos , Radiação Ionizante
6.
Surg Case Rep ; 9(1): 78, 2023 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-37171638

RESUMO

BACKGROUND: Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Intestinal perforation is one of the fatal manifestations of this syndrome, and its management is complicated. CASE PRESENTATION: A 58-year-old woman with a familial history of Ehlers-Danlos syndrome visited the emergency department due to a sudden onset of lower abdominal pain. Plain abdominal computed tomography showed abdominal free air. We found a perforated descending colon and subsequently resected this lesion and performed ileostomy. Fifty-one days after this first operation, the patient had transverse colon perforation and thus underwent the Hartmann procedure as the second operation. In addition, she was diagnosed with small bowel perforation 53 days after the first operation and consequently underwent a third operation-partial resection of the jejunum with functional end-to-end anastomosis. Fifty-eight days after the first operation, she complained of acute abdominal pain. Plain abdominal computed tomography showed fluid collection near the jejunojejunal anastomosis. We detected dehiscence at the entry hole of the linear stapler during the operation and thus performed partial resection of the affected jejunum, followed by jejunostomy. The postoperative course of the fourth operation was uneventful. Genetic testing revealed a novel missense mutation (c.2095G>T, p.Gly699Cys) in the COL3A1 gene, which is presumed to be a pathogenic variant of vascular Ehlers-Danlos syndrome. CONCLUSION: Vascular Ehlers-Danlos syndrome should be considered in the case of repeated intestinal perforation. The identified missense mutation in the COL3A1 gene (c.2095G>T, p.Gly699Cys) might be a novel pathogenic variation causing vascular Ehlers-Danlos syndrome. Careful postoperative screening and multidisciplinary management are required.

7.
Nutrients ; 15(7)2023 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-37049612

RESUMO

Several scoring methods for the Mediterranean diet, which is considered as a healthy diet, are available, but studies that have compared more than one of these scores are rare. In addition, the applicability of Mediterranean diet scoring has not been sufficiently examined outside of Mediterranean regions. We collected data on the Mediterranean diet during pregnancy and the incidence of type 1 allergies in offspring from the Japan Environment and Children's Study. Using multiple Mediterranean diet scoring methods, we analyzed the effect of adherence to the Mediterranean diet in pregnancy on the allergies of the offspring. Overall, 46,532 pairs of mothers and children were analyzed. In Japan, a high adherence to the Mediterranean diet during pregnancy was associated with a lower incidence of asthma in the offspring (odds ratio: 0.896, 95% confidence interval: 0.835, 0.962). Furthermore, we found that the selection of the Mediterranean diet scoring method and the setting of the reference value significantly altered the results. Our findings suggest that an appropriate selection of scoring methods and a reference value for food items are important to analyze the effects of adherence to the Mediterranean diet inside and outside of Mediterranean regions.


Assuntos
Asma , Dieta Mediterrânea , Hipersensibilidade , Gravidez , Feminino , Humanos , Criança , Incidência , Japão/epidemiologia , Asma/epidemiologia , Asma/etiologia , Asma/prevenção & controle
8.
Environ Health ; 22(1): 17, 2023 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-36803161

RESUMO

BACKGROUND: The SHAMISEN (Nuclear Emergency Situations - Improvement of Medical And Health Surveillance) European project was conducted in 2015-2017 to review the lessons learned from the experience of past nuclear accidents and develop recommendations for preparedness and health surveillance of populations affected by a nuclear accident. Using a toolkit approach, Tsuda et al. recently published a critical review of the article by Cléro et al. derived from the SHAMISEN project on thyroid cancer screening after nuclear accident. MAIN BODY: We address the main points of criticism of our publication on the SHAMISEN European project. CONCLUSION: We disagree with some of the arguments and criticisms mentioned by Tsuda et al. We continue to support the conclusions and recommendations of the SHAMISEN consortium, including the recommendation not to launch a mass thyroid cancer screening after a nuclear accident, but rather to make it available (with appropriate information counselling) to those who request it.


Assuntos
Acidente Nuclear de Fukushima , Neoplasias da Glândula Tireoide , Humanos , Neoplasias da Glândula Tireoide/epidemiologia , Política de Saúde , Métodos Epidemiológicos
9.
J Radiat Res ; 64(2): 387-398, 2023 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-36715176

RESUMO

To analyze the association between radiation dose and thyroid cancer after the 2011 Fukushima Daiichi Nuclear Power Plant (FDNPP) accident, external doses have often been used because of the difficulty to estimate internal thyroid doses individually due to the lack of human data. However, no evaluation has been made as to whether external dose is a good surrogate marker for internal thyroid dose individually. This study aimed at analyzing the relationship between external doses and internal thyroid doses estimated by recently developed methodology. For four municipalities affected by the accident, 200 individuals aged under 20 at the time of the accident per municipality were randomly selected, and their external and internal thyroid doses and their ratios were estimated individually. In a separate analysis, median and arithmetic mean values for external thyroid doses estimated for persons of 16 municipalities that included the above four were compared with those for previously estimated internal thyroid doses. The ratios of the median of internal thyroid dose to that of external thyroid dose in these 16 municipalities ranged from 0.56 to 13.8 for 15-year-old children and 0.91 to 21.1 for 1-year-old children. No consistent relationship between external and internal thyroid doses was found in all 16 municipalities. Thus, thyroid doses from both external and internal exposures should be used to analyze the association between radiation dose and thyroid cancer detection rates for persons who lived in Fukushima Prefecture at the time of the FDNPP accident. (240).


Assuntos
Acidente Nuclear de Fukushima , Monitoramento de Radiação , Neoplasias da Glândula Tireoide , Adolescente , Idoso , Criança , Humanos , Lactente , Japão , Centrais Nucleares , Doses de Radiação
10.
Int J Hyg Environ Health ; 248: 114094, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36610096

RESUMO

Antinuclear antibodies (ANAs) are detected in healthy individuals, they are more prevalent in women than in men. Pregnant women are immunologically unique, but epidemiological data on ANA positivity in them remain limited. The exposure received from the mother during the fetal period impacts the future health of the fetus and has thus received increased attention in recent years. Thus, we investigated the association between ANA positivity and chemical exposure among pregnant Japanese women, registered in the Japan Environment and Children's Study (JECS). ANA titers were assessed by indirect immunofluorescence with HEp-2 cells at a cutoff dilution of 1:40. Sociodemographic and other data were obtained in the JECS from a self-administered questionnaire. We analyzed 1,235 Japanese women in their first trimester of pregnancy. The ANA prevalence was 17.2%. Among ANA-positive women, a speckled pattern was the most common (95.3%), followed by a homogeneous pattern (72.3%). Exposure to chemicals more than once a week significantly increased the probability of ANA positivity (kerosene, petroleum, benzene, or gasoline: adjusted odds ratio [AOR], 2.11; 95% confidence interval [95% CI], 1.03-4.34; chlorine bleach or germicide: AOR, 1.97; 95% CI, 1.10-3.54; organic solvents: AOR, 5.34; 95% CI, 1.40-20.36; and photocopying machines or laser printers: AOR, 1.73; 95% CI, 1.17-2.54). ANA positivity was associated with exposure to several chemicals in Japanese women. Our exploratory results suggested that ANAs as potential markers of chemical exposure warrant further research.


Assuntos
Anticorpos Antinucleares , Exposição Ambiental , Gestantes , Feminino , Humanos , Gravidez , Estudos Transversais , População do Leste Asiático , Japão , Inquéritos e Questionários , Exposição Ambiental/efeitos adversos , Poluentes Ambientais
11.
Cancers (Basel) ; 14(22)2022 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-36428656

RESUMO

Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly, aneurysmally dilated chorionic plate vessels, thrombosis of the dilated vessels, and large grapelike vesicles, and is often mistaken for partial or complete hydatidiform mole with a coexisting normal fetus. Androgenetic/biparental mosaicism (ABM) has been found in many PMD cases. Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with complex and diverse phenotypes and an increased risk of developing embryonal tumors. There are five major causative alterations: loss of methylation of imprinting control region 2 (KCNQ1OT1:TSS-DMR) (ICR2-LOM), gain of methylation at ICR1 (H19/IGF2:IG-DMR) (ICR1-GOM), paternal uniparental disomy of 11 (pUPD11), loss-of-function variants of the CDKN1C gene, and paternal duplication of 11p15. Additional minor alterations include genetic variants within ICR1, paternal uniparental diploidy/biparental diploidy mosaicism (PUDM, also called ABM), and genetic variants of KCNQ1. ABM (PUDM) is found in both conditions, and approximately 20% of fetuses from PMD cases are BWS and vice versa, suggesting a molecular link. PMD and BWS share some molecular characteristics in some cases, but not in others. These findings raise questions concerning the timing of the occurrence of the molecularly abnormal cells during the postfertilization period and the effects of these abnormalities on cell fates after implantation.

12.
J Radiat Res ; 63(6): 796-804, 2022 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-36109336

RESUMO

To elucidate the association between radiation dose and thyroid cancer after the 2011 Fukushima Daiichi Nuclear Power Station (FDNPS) accident, it is essential to estimate individual thyroid equivalent doses (TEDs) to children. In a previous study, we reported a methodology for reconstructing TEDs from inhalation. That methodology was based on individual behavioral survey sheets of the Fukushima Health Management Survey (FHMS) combined with a spatiotemporal radionuclides database constructed by an atmospheric transport, diffusion, and deposition model (ATDM)-the Worldwide version of System for Prediction of Environmental Emergency Dose Information (WSPEEDI) in seven municipalities. In the present study, we further refined our methodology and estimated the combined TEDs from inhalation and ingestion among children in 16 municipalities around the nuclear power station utilizing 3256 individual whereabouts questionnaire survey sheets. Distributions of estimated TEDs were similar to estimates based on direct thyroid measurements in 1080 children in Iwaki City, Kawamata Town, Iitate Village, and Minamisoma City. Mean TEDs in 1-year-old children ranged from 1.3 mSv in Date City to 14.9 mSv in Odaka Ward in Minamisoma City, and the 95th percentiles varied from 2.3 mSv in Date City to 28.8 mSv in Namie Town. In the future, this methodology can be useful for the epidemiological studies of thyroid cancer after the FDNPS accident.


Assuntos
Neoplasias da Glândula Tireoide , Criança , Humanos , Lactente
13.
PLoS One ; 17(9): e0274482, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36103563

RESUMO

INTRODUCTION: Shortages of human resources in radiation emergency medicine (REM) caused by the anxiety and stress of due to working in REM, are a major concern. The present study aimed to quantify stress and identify which tasks involved in REM response are most stressful to help educate (human resource development) and effectively reduce stress in workers. Furthermore, the final goal was to reduce the anxiety and stress of medical personnel in the future, which will lead to sufficient human resources in the field of REM. METHODS: In total, 74 nurses who attended an REM seminar were asked to answer a questionnaire (subjective) survey and wear a shirt-type electrocardiogram (objective survey). Then, informed consent was obtained from 39 patients included in the analysis. In the objective survey, average stress values of participants for each activity during the seminar were calculated based on heart rate variability (HRV). The average stress value was output as stress on a relative scale of 0-100, based on the model which is the percentile of the low-frequency/high-frequency ratio derived from HRV at any point in time obtained over time. RESULTS: A total of 35 (89.7%) participants answered that they had little or no knowledge of nuclear disaster and 33 (84.6%) had more than moderate anxiety. Stress values observed during the decontamination process were significantly higher than those observed when wearing and removing protective gear and during the general medical treatment process (P = 0.001, 0.004, and 0.023, respectively). Stress values did not increase during general medical treatment performed in protective clothing, but increased during the decontamination process, which is the task characteristic of REM. DISCUSSION: Stress felt by medical personnel throughout the entire REM response may be effectively reduced by providing careful education/training to reduce stress during the decontamination process. Reducing stress during REM response effectively could contribute to resolving the shortage of human resources in this field.


Assuntos
Desastres , Medicina de Emergência , Ansiedade , Emoções , Humanos , Inquéritos e Questionários
14.
Nihon Hoshasen Gijutsu Gakkai Zasshi ; 78(11): 1282-1294, 2022 Nov 20.
Artigo em Japonês | MEDLINE | ID: mdl-36171114

RESUMO

PURPOSE: The aim of this study was to provide the information needed to optimise a nuclear accident to human resource development training programmes for radiological technologists (RTs) based on the experience of the Fukushima Daiichi nuclear power station (FDNPS) accident. METHODS: A total of 330 respondents (availability rate: 56.5%) were obtained through a postal questionnaire survey of RTs in Fukushima Prefecture. The analysed items were the relationship between the individual attributes, subject's experience in responding to the FDNPS accident, and subject's records of participating in nuclear accident trainings before the FDNPS accident with regard to 1) "skills that need to be learnt (4 items)" and 2) "basic knowledge (4 items)" to respond to a nuclear accident. RESULTS: Regarding 1), air ambient dose and body surface contamination measurements were significantly associated with the number of beds at a place of work at the time of the FDNPS accident. In addition, consultations on radiation exposure were significantly associated with the experience in responding to the FDNPS accident and the records of participating in nuclear accident trainings before the FDNPS accident. Regarding 2), knowledge of internal exposure was significantly related to the years of employment at the time of the FDNPS accident and the experience in responding to the FDNPS accident. CONCLUSION: By considering the results of this study, it should be possible to provide training programmes for a nuclear accident that are optimally tailored to the background of the RTs.


Assuntos
Acidente Nuclear de Fukushima , Exposição à Radiação , Monitoramento de Radiação , Humanos , Monitoramento de Radiação/métodos , Exposição à Radiação/análise , Inquéritos e Questionários , Recursos Humanos , Japão
15.
Stud Health Technol Inform ; 290: 1074-1075, 2022 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-35673212

RESUMO

We developed a mobile application (app) to help communication between support providers and residents who have returned from evacuation after the Fukushima nuclear power plant accident. Surveys were conducted among returning residents and support providers in coastal areas of Fukushima Prefecture, from which application functions and layout were decided. App functions were included to estimate external exposure, monitor health, and facilitate interactive health counseling.


Assuntos
Acidente Nuclear de Fukushima , Aplicativos Móveis , Comunicação , Japão , Inquéritos e Questionários
16.
Clin Epigenetics ; 14(1): 64, 2022 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-35581658

RESUMO

BACKGROUND: Placental mesenchymal dysplasia (PMD) is a morphological abnormality resembling partial hydatidiform moles. It is often associated with androgenetic/biparental mosaicism (ABM) and complicated by Beckwith-Wiedemann syndrome (BWS), an imprinting disorder. These phenomena suggest an association between PMD and aberrant genomic imprinting, particularly of CDKN1C and IGF2. The existence of another type of PMD containing the biparental genome has been reported. However, the frequency and etiology of biparental PMD are not yet fully understood. RESULTS: We examined 44 placental specimens from 26 patients with PMD: 19 of these were macroscopically normal and 25 exhibited macroscopic PMD. Genotyping by DNA microarray or short tandem repeat analysis revealed that approximately 35% of the macroscopic PMD specimens could be classified as biparental, while the remainder were ABM. We performed a DNA methylation analysis using bisulfite pyrosequencing of 15 placenta-specific imprinted differentially methylated regions (DMRs) and 36 ubiquitous imprinted DMRs. As expected, most DMRs in the macroscopic PMD specimens with ABM exhibited the paternal epigenotype. Importantly, the biparental macroscopic PMD specimens exhibited frequent aberrant hypomethylation at seven of the placenta-specific DMRs. Allelic expression analysis using single-nucleotide polymorphisms revealed that five imprinted genes associated with these aberrantly hypomethylated DMRs were biallelically expressed. Frequent aberrant hypomethylation was observed at five ubiquitous DMRs, including GRB10 but not ICR2 or ICR1, which regulate the expression of CDKN1C and IGF2, respectively. Whole-exome sequencing performed on four biparental macroscopic PMD specimens did not reveal any pathological genetic abnormalities. Clinical and molecular analyses of babies born from pregnancies with PMD revealed four cases with BWS, each exhibiting different molecular characteristics, and those between BWS and PMD specimens were not always the same. CONCLUSION: These data clarify the prevalence of biparental PMD and ABM-PMD and strongly implicate hypomethylation of DMRs in the pathogenesis of biparental PMD, particularly placenta-specific DMRs and the ubiquitous GRB10, but not ICR2 or ICR1. Aberrant hypomethylation of DMRs was partial, indicating that it occurs after fertilization. PMD is an imprinting disorder, and it may be a missing link between imprinting disorders and placental disorders incompatible with life, such as complete hydatidiform moles and partial hydatidiform moles.


Assuntos
Síndrome de Beckwith-Wiedemann , Mola Hidatiforme , Neoplasias Uterinas , Síndrome de Beckwith-Wiedemann/genética , Metilação de DNA , Feminino , Impressão Genômica , Humanos , Mola Hidatiforme/genética , Placenta , Gravidez , Neoplasias Uterinas/genética
17.
J Obstet Gynaecol Res ; 48(6): 1475-1479, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35278016

RESUMO

Acute coagulopathy, specific placental pathology, and an increased risk of fetal death have been reported in pregnant women with COVID-19; however, the association between coagulopathy and fetal death remains unknown. We report two pregnant women with COVID-19 who showed acute coagulopathy prior to fetal death. Both pregnant women presented with thrombocytopenia after testing positive for SARS-CoV-2 (days 5 and 7). They had mild symptoms, but coagulopathy progressed, and their fetuses died on day 9 at 27 and 22 weeks of pregnancy. Their coagulability improved after delivery. Placental histology in both cases showed intervillous infiltration of histiocytes, necrosis of trophoblasts, and intervillous fibrin deposition, which were consistent with previously reported pathological findings related to SARS-CoV-2. In the management of pregnant women with COVID-19, thrombocytopenia may be a predictive marker of fetal death following coagulopathy and placental inflammatory changes due to SARS-CoV-2 infection.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Trombocitopenia , COVID-19/complicações , Feminino , Morte Fetal/etiologia , Humanos , Transmissão Vertical de Doenças Infecciosas , Placenta/patologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , SARS-CoV-2 , Trombocitopenia/etiologia
19.
J Minim Invasive Gynecol ; 29(3): 416-423, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34808380

RESUMO

STUDY OBJECTIVE: To investigate the safety and efficacy of a single local methotrexate (MTX) injection for the treatment of cesarean scar pregnancy (CSP), assess reproductive outcomes after treatment, and confirm clinical outcomes after the treatment of CSP patients according to the presence of fetal cardiac activity or serum human chorionic gonadotropin (hCG) levels. DESIGN: A retrospective cohort study. SETTING: A university hospital. PATIENTS: Women with CSP. INTERVENTIONS: Single local MTX injection under transvaginal ultrasound guidance. MEASUREMENTS AND MAIN RESULTS: A total of 45 CSP cases were identified; the mean (standard deviation, range) estimated gestational age was 7.7 (1.7, 5.4-12.5) weeks and the mean serum hCG level was 51 801 (40 761, 2307-187 898) mIU/mL. Three cases required additional treatment with MTX, and none of the cases needed uterine artery embolization or hysterectomy. The success rate for a single dose was 93.3%, and it was 100% if additional treatments with MTX were included. The mean time required for hCG normalization in those with fetal cardiac activity or with an initial level of hCG greater than 100 000 mIU/mL was not significantly longer than that in the controls (93.4 vs 77.1 days, p = .12; 113.7 days vs 83.6 days, p = .10). Of the 23 women who desired a subsequent pregnancy, 13 delivered 14 healthy newborns after treatment, 3 had an ongoing pregnancy, and 3 experienced recurrent CSP. CONCLUSIONS: A single local MTX injection is safe and effective for the treatment of CSP despite the presence of fetal cardiac activity or any initial level of hCG and may allow the possibility of a subsequent uneventful pregnancy.


Assuntos
Abortivos não Esteroides , Metotrexato , Cesárea/efeitos adversos , Cicatriz/tratamento farmacológico , Cicatriz/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Estudos Retrospectivos , Resultado do Tratamento
20.
Artigo em Inglês | MEDLINE | ID: mdl-34886431

RESUMO

Digital tools are increasingly used for health promotion, but their utility during recovery from a nuclear disaster has yet to be established. This study analysed differences in knowledge, attitude, and practice (KAP) toward digital tools for radiation protection and health promotion, and preferences for specific application functions, among cohorts living within and outside areas affected by the Fukushima Daiichi nuclear power station (FDNPS) accident. A needs assessment was conducted by internet survey, and responses from those affected (N = 86) and not affected (N = 253) were compared and quantified by an adjusted odds ratio (aOR), using logistic regression analyses. KAP toward the radiation-related application in the affected group had an aOR of 1.95 (95% confidence interval (CI) = 1.12-3.38) for knowledge, and 5.71 (CI = 2.55-12.8) for practice. Conversely, toward the health-related application, the aOR of the affected group was 0.50 (CI = 0.29-0.86). The preference in the affected group was significantly lower for two application functions related to radiation measurement and two health-related functions (one about the effects of radiation in general and another about personal health advice in general): aOR range 0.43-0.50. Development of specific applications incorporating the findings from this survey was intended to foster a locally appropriate eHealth environment during recovery from the FDNPS accident.


Assuntos
Desastres , Acidente Nuclear de Fukushima , Proteção Radiológica , Japão , Inquéritos e Questionários
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