ABSTRACT
AIM: The aim of this study was to determine the level of awareness of sexual reproductive health and rights (SRHR) among the members of the Japan Society of Obstetrics and Gynecology (JSOG) and identify what the JSOG should do to address SRHR issues. METHODS: A survey questionnaire on JSOG members' awareness of SRHR and what the JSOG should address regarding SRHR was administered in 2019 and 2023. Changes in awareness and the issues that should be addressed from the first to the second survey were evaluated. RESULTS: Seven hundred twelve members responded to the first survey and 506 to the second. Response rates were 4.2% and 2.9%, respectively. There was a significant increase in the number of respondents in the second survey who were aware of sexual reproductive health (SRH) and Sustainable Development Goals (SDGs) compared with the first survey (SRH: 72.6%-86.4%; SDGs: 33.8%-86.4%). Most respondents agreed that SRHR should be promoted. In the first survey, cervical cancer was the most important issue, followed by women's right to self-determination and family planning/contraception. In the second survey, women's right to self-determination was the most important issue. Several free responses highlighted the importance of comprehensive sexuality education as a significant concern for SRHR. CONCLUSION: Between 2019 and 2023, the level of awareness of SRHR among JSOG members increased. The identification of SRHR issues that should be addressed by the JSOG was confirmed. The JSOG and individual obstetricians and gynecologists are responsible for being involved in achieving SRHR.
ABSTRACT
Since July 2022, obstetrical disseminated intravascular coagulation (DIC) in Japan has been diagnosed based on the new criteria (tentative version), which assesses the main underlying disease, fibrinogen level, and fibrin/fibrinogen degradation products or D-dimer level. In June 2024, the tentative version underwent minor revision and the final version was released. The previous Japanese criteria assessed underlying disease, clinical symptoms, and various laboratory findings. This study aimed to prove the effectiveness, reliability, and validity of the new criteria (final version). We analyzed 212 women with singleton pregnancies who delivered after 22 gestational weeks and experienced blood loss ≥ 1000 mL during vaginal delivery or ≥ 2000 mL during cesarean section. Those with missing laboratory findings before receiving blood transfusion at delivery were excluded. In the obstetrical DIC group, the frequency of fibrinogen levels < 150 mg/dL was significantly higher than in the control group (90% vs. 5%, p < 0.0001), as was the frequency of scores ≥ 8 according to the previous Japanese criteria (100% vs. 10%, p < 0.0001). Cronbach alpha was 0.757 and Spearman's rank-order correlation was 0.558 between the new and previous criteria. In conclusion, we proved the effectiveness, reliability, and validity of the Japanese new criteria (final version) to diagnose obstetrical DIC.
Subject(s)
Disseminated Intravascular Coagulation , Fibrin Fibrinogen Degradation Products , Humans , Disseminated Intravascular Coagulation/diagnosis , Disseminated Intravascular Coagulation/blood , Female , Pregnancy , Japan , Adult , Reproducibility of Results , Fibrin Fibrinogen Degradation Products/analysis , Fibrinogen/analysis , Fibrinogen/metabolism , Pregnancy Complications, Hematologic/diagnosis , Pregnancy Complications, Hematologic/blood , Cesarean Section , East Asian PeopleABSTRACT
This study was to investigate the employment status of pregnant women in Japan and identify risk factors associated with resigning from work during pregnancy. We conducted a cross-sectional survey with 975 postpartum women in Tokyo and its suburbs, focusing on those who were employed during pregnancy. Women who were employed when they became pregnant were selected and divided into two groups: those who did not resign and those who resigned; the groups were analyzed separately. Multiple logistic regression analyses were performed to examine associations between employment resignation and risk factors. The analysis revealed that 79% continued working, while 8.1% resigned. Risk factors for resignation included non-regular employment (OR: 13.1, 95% CI: 6.6-25.9), fewer employees (OR: 3.4, 95% CI: 1.8-6.4), and shorter employee tenure (OR: 2.4, 95% CI: 1.1-5.2). Non-regular employment status, a smaller number of employees, and shorter employee tenure were identified as risk factors for working women resigning from their job during pregnancy. In work situations and work environments that encourage pregnant women to leave the workforce, developing systems to improve these conditions for pregnant employees may help women to progress in the labor force.
ABSTRACT
BACKGROUND: Carnitine is essential for fatty acid metabolism. Free carnitine (FCA) is excreted in the urine in the glomerulus, but is partly reabsorbed by a carnitine transporter. The mechanism underlying the decrease in serum carnitine level during pregnancy is unclear. OBJECTIVE: To investigate whether low carnitine level is associated with increased renal excretion in pregnant women. METHODS: We recruited 43 healthy pregnant and 25 non-pregnant women. Total carnitine (TCA) and FCA levels were measured using the enzymatic cycling method, and the acylcarnitine (ACA) level was calculated. Fractional excretion (FE) was calculated as carnitine clearance divided by creatinine clearance. RESULTS: The mean TCA, FCA, and ACA levels were lower at 12 weeks of gestation in pregnant than non-pregnant women (P < .001); the levels decreased further at 36 weeks, reaching 39%, 36%, and 52% of those in non-pregnant women, respectively (P < .001). The FEs were 3-4-fold higher in pregnant women than non-pregnant women. Pregnant women had a lower serum FCA/TCA ratio than non-pregnant women (0.788 ± 0.098 vs 0.830 ± 0.074, respectively; P < .05), whereas the urine FCA/TCA ratio was similar between the groups. CONCLUSION: Low carnitine level is associated with increased renal excretion during late pregnancy.
ABSTRACT
RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing identified a rare de novo RAC1 variant [NM_018890.4:c.118T > C p.(Tyr40His)] in a male patient. Fetal ultrasonography indicated the patient to have multiple anomalies, including persistent left superior vena cava, total anomalous pulmonary venous return, esophageal atresia, scoliosis, and right-hand polydactyly. After birth, craniofacial dysmorphism and esophagobronchial fistula were confirmed and VACTERL association was suspected. One day after birth, the patient died of respiratory failure caused by tracheal aplasia type III. The molecular mechanisms of pathogenic RAC1 variants remain largely unclear; therefore, we biochemically examined the pathophysiological significance of RAC1-p.Tyr40His by focusing on the best characterized downstream effector of RAC1, PAK1, which activates Hedgehog signaling. RAC1-p.Tyr40His interacted minimally with PAK1, and did not enable PAK1 activation. Variants in the RAC1 Switch II region consistently activate downstream signals, whereas the p.Tyr40His variant at the RAC1-PAK1 binding site and adjacent to the Switch I region may deactivate the signals. It is important to accumulate data from individuals with different RAC1 variants to gain a full understanding of their varied clinical presentations.
Subject(s)
Vena Cava, Superior , p21-Activated Kinases , Humans , Male , Binding Sites , Hedgehog Proteins/metabolism , p21-Activated Kinases/genetics , p21-Activated Kinases/metabolism , rac1 GTP-Binding Protein/genetics , rac1 GTP-Binding Protein/metabolism , Vena Cava, Superior/metabolism , Infant, NewbornABSTRACT
INTRODUCTION: The introduction of biologic therapies and a treat-to-target approach has transformed the management of rheumatoid arthritis (RA), which has led to improved outcomes for women with RA who wish to become pregnant. However, guidelines for the management of reproductive health in female patients with RA are still lacking. AREAS COVERED: A task force (Women of Childbearing Age [WoCBA]-Rheumatoid Arthritis in Japan) comprising 10 experts in the fields of rheumatology, obstetrics and orthopedic surgery developed 10 clinical questions (CQ) related to the management of WoCBA with RA. For each CQ, a systematic literature review was conducted to identify relevant evidence. Based on this evidence, a set of recommendations for each CQ were drafted and evaluated using the modified Delphi method. This article describes the agreed recommendations along with the supporting evidence. EXPERT OPINION: There are many ongoing challenges associated with the provision of reproductive healthcare in WoCBA with RA. It is hoped that the consensus-based recommendations provided here can be implemented in clinical practice in order to increase collaboration between rheumatologists and obstetricians/gynecologists and to improve reproductive health outcomes for WoCBA with RA.
Subject(s)
Arthritis, Rheumatoid , Rheumatology , Pregnancy , Humans , Female , Evidence-Based Medicine , Arthritis, Rheumatoid/drug therapy , Rheumatology/methods , Consensus , JapanABSTRACT
BACKGROUND Vaginal wall hemangiomas are extremely rare, benign, vascular tumors of the female genitalia. Most cases occur in childhood, but a few cases can be acquired; however, the mechanism of hemangioma formation remains unknown. Most hemangiomas involving female genital organs are small and asymptomatic. However, huge hemangiomas can cause irregular genital bleeding, infertility, and miscarriage. Surgical excision and embolization are the most common treatment options. We reveal that sclerotherapy achieved good outcomes in a patient with an intractable huge vaginal wall hemangioma. CASE REPORT A 71-year-old woman visited a local doctor with concerns of frequent urination. A ring pessary was inserted after a diagnosis of pelvic organ prolapse. However, symptoms did not improve, and the patient consulted another hospital. The previous physician diagnosed vaginal wall tumors and prolapse and performed a colporrhaphy. However, she was referred to our hospital with heavy intraoperative bleeding. Imaging examination revealed a huge hemangioma on the vaginal wall, which was histologically diagnosed as a cavernous hemangioma. Angiography revealed hemorrhage in the right peripheral vaginal artery. Owing to concerns regarding extensive vaginal wall necrosis caused by arterial embolization, sclerotherapy using monoethanolamine oleate was selected. Hemostasis was achieved 1 month after sclerotherapy, and postoperative imaging showed the lesion had shrunk in size. No recurrence of hemangioma was observed 19 months after surgery. CONCLUSIONS We report a case of a large vaginal wall intractable bleeding hemangioma. Sclerotherapy can be a suitable treatment option for large vaginal hemangiomas that are too extensive to be treated using surgery or arterial embolization.
Subject(s)
Hemangioma, Cavernous , Hemangioma , Female , Humans , Aged , Sclerotherapy/methods , Hemangioma, Cavernous/complications , Hemangioma, Cavernous/therapy , Hemangioma, Cavernous/diagnosis , Hemangioma/diagnosis , Vagina , Uterine Hemorrhage/etiology , Uterine Hemorrhage/therapyABSTRACT
BACKGROUND: Insulin resistance (IR) is exacerbated during pregnancy via increases in insulin counterregulatory hormones. Maternal lipids are strong determinants of neonatal growth, although triglyceride-rich lipoproteins (TGRLs) cannot be transferred directly to the fetus through the placenta. The catabolism of TGRLs under physiological IR and the reduced synthesis of lipoprotein lipase (LPL) are poorly understood. We examined the association of maternal and umbilical cord blood (UCB)-LPL concentrations with maternal metabolic parameters and fetal development. METHODS: Changes in anthropometric measures and lipid-, glucose-, and insulin-related parameters, including maternal and UCB-LPL concentrations, were examined in 69 women during pregnancy. The relationship between those parameters and neonatal birth weight was assessed. RESULTS: Parameters reflecting glucose metabolism did not change during pregnancy, whereas those associated with lipid metabolism and IR changed markedly, particularly in the second and third trimesters. In the third trimester, the maternal LPL concentration gradually decreased, by 54%, whereas the UCB-LPL concentration was â¼2-fold higher than the maternal LPL concentration. Univariate and multivariate analyses showed that the UCB-LPL concentration was a significant determinant of neonatal birth weight, together with placental birth weight. CONCLUSION: The LPL concentration in UCB reflects neonatal development under a decreased LPL concentration in maternal serum.
Subject(s)
Fetal Blood , Placenta , Infant, Newborn , Pregnancy , Female , Humans , Birth Weight , Placenta/metabolism , Lipoprotein Lipase/metabolism , InsulinABSTRACT
Intrauterine balloon prolapse sometimes occurs, and the intrauterine balloon must be reinserted. Furthermore, intrauterine balloon tamponade (IBT) failure can necessitate additional invasive procedures. We report a case of cervical cerclage with IBT for placenta previa with a cervical dilation. In our case, emergency cesarean section was performed at 35 + 4 weeks of gestation because of persistent hemorrhage. During the operation, we performed IBT to prevent further postpartum hemorrhage. However, immediately after the operation, uterine cervical dilatation was 6 cm, which resulted in cervical dilation and prolapse of the intrauterine balloon. Therefore, we performed cervical cerclage using absorbable sutures with IBT and blood transfusion. We speculated that the intrauterine balloon might have induced cervical canal ripening during the operation. Our case suggested that cervical cerclage with IBT is a useful method to prevent intrauterine balloon prolapse in cases with cervical dilation.
ABSTRACT
TNNI2 at 11p15.5 encodes troponin I2, fast skeletal type, which is a member of the troponin I gene family and a component of the troponin complex. Distal arthrogryposis (DA) is characterized by congenital limb contractures without primary neurological or muscular effects. DA is inherited in an autosomal dominant fashion and is clinically and genetically heterogeneous. Exome sequencing identified a causative variant in TNNI2 [NM_003282.4:c.532T>C p.(Phe178Leu)] in a Japanese girl with typical DA2b. Interestingly, the familial study using Sanger sequencing suggested a mosaic variant in her healthy father. Subsequent targeted amplicon-based deep sequencing detected the TNNI2 variant with variant allele frequencies of 9.4-17.7% in genomic DNA derived from peripheral blood leukocytes, saliva, hair, and nails in the father. We confirmed a disease-causing variant in TNNI2 in the proband inherited from her asymptomatic father with its somatic variant. Our case demonstrates that careful clinical and genetic evaluation is required in DA.
Subject(s)
Arthrogryposis , Humans , Female , Male , Arthrogryposis/genetics , Mosaicism , Troponin I/genetics , Sarcomeres , Pedigree , FathersABSTRACT
AIM: This nationwide study aimed to investigate the practical management of term premature rupture of membrane (PROM) and its relationship with maternal and neonatal outcomes. METHODS: We conducted a questionnaire survey of 415 facilities participating in the Japan Perinatal Registry Network of the Japan Society of Obstetrics and Gynecology in 2016. The patients were women expecting vaginal birth after PROM at term without clinical chorioamnionitis. We classified the facilities into three groups based on duration of the expectant management after PROM (within 24, 24, and 48 h). Furthermore, we analyzed the association between perinatal outcomes and management protocol using the Japan Perinatal Registry Network Database 2016. RESULTS: Of 415 facilities, 346 (83.4%) completed and returned the survey. Among 231 facilities with management protocols, an interval of 3 days from PROM to delivery was acceptable in 167 facilities (72.3%). One hundred forty-nine facilities (64.5%) responded that they did not perform mechanical cervical dilation, and 90 (39.0%) used oxytocin as a uterotonic irrespective of cervical maturation. The number of hospitals that had a policy to administer antibiotics to Group B streptococcus-positive patients was 211 (91.3%). Neonatal outcomes at birth and the frequency of cesarean section and postpartum fever did not differ among the three groups. CONCLUSIONS: Most facilities in the Japan Perinatal Registry Network managed women at term to delivery within 3 days after PROM with attention to bacterial infection. Expectant management up to 48 h after PROM did not increase the risk of postpartum fever, compared to labor induction immediately after PROM.
Subject(s)
Fetal Membranes, Premature Rupture , Gynecology , Infant, Newborn , Pregnancy , Female , Humans , Male , Cesarean Section , Labor, Induced/methods , Perinatology , Fetal Membranes, Premature Rupture/epidemiology , Fetal Membranes, Premature Rupture/therapy , Japan/epidemiologyABSTRACT
Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants that cause Cornelia de Lange Syndrome (CdLS) are highly expressed in the brain and LCLs. In this context, we first performed RNA sequencing of LCLs from 22 solved (with pathogenic variants) and 19 unsolved (with no confirmed variants) CdLS cases. Next, an RNA sequencing pipeline was developed using solved cases with two different methods: short variant analysis (for single-nucleotide and indel variants) and aberrant splicing detection analysis. Then, 19 unsolved cases were subsequently applied to our pipeline, and four pathogenic variants in NIPBL (one inframe deletion and three intronic variants) were newly identified. Two of three intronic variants were located at Alu elements in deep-intronic regions, creating cryptic exons. RNA sequencing with LCLs was useful for identifying hidden variants in exome-negative cases.
Subject(s)
De Lange Syndrome , Epstein-Barr Virus Infections , Cell Cycle Proteins/genetics , De Lange Syndrome/diagnosis , De Lange Syndrome/genetics , De Lange Syndrome/pathology , Herpesvirus 4, Human/genetics , Humans , Nucleotides , Phenotype , Protein Isoforms/genetics , Sequence Analysis, RNASubject(s)
Cerclage, Cervical , Cervix Uteri , Cervix Uteri/surgery , Female , Humans , Physical Examination , Pregnancy , Pregnancy OutcomeABSTRACT
INTRODUCTION: Early diagnosis of tuberculosis (TB) in infants is important but is commonly missed because the symptoms are often non-specific. CASE PRESENTATION: A Nepalese male infant born at 26 weeks gestation and weighing 1227 g (97th centile) was admitted to the neonatal intensive care unit (NICU) immediately after birth for the management of his prematurity. After extubation on Day 8, his oxygen saturation became unstable and he required nasal continuous positive airway pressure with oxygen for 3 months. On Day 104, further detailed evaluation was required because there was no improvement in his respiratory condition. A computed tomography (CT) scan demonstrated scattered miliary nodules in both lung fields. Acid-fast staining for the mycobacteria and TB polymerase chain reaction (PCR) of the sputum obtained directly by laryngeal aspiration confirmed Mycobacterium tuberculosis. On Day 105, he was therefore transferred to a tertiary care hospital for further intensive care. Pathology findings suggested placental involvement with TB owing to chronic endometrial infection. In addition, a maternal abdominal CT scan demonstrated bilateral calcified lesions in the ovaries. He completed antituberculous chemotherapy and was discharged 3 months later. At 18 months of age there are no sequelae and his development is almost normal. None of the infants or medical personnel who were exposed in the NICU developed secondary TB. CONCLUSION: In neonates with persistent respiratory distress, neonatologists should consider TB infection as a differential diagnosis. ABBREVIATIONS: CLD: chronic lung disease; CRP: C-reactive protein; CT: computed tomography; IGRA: interferon-γ release assay; IVF-ET: in vitro fertilisation-embryo transfer; N-CPAP: nasal continuous positive airway pressure; NICU: neonatal intensive care unit; PCR: polymerase chain reaction; PROM: premature rupture of membranes; TB: tuberculosis; WBC: white blood cells.
Subject(s)
Infant, Newborn, Diseases , Lung Diseases , Tuberculosis, Miliary , Tuberculosis, Pulmonary , C-Reactive Protein , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/therapy , Male , Mothers , Ovary , Oxygen/therapeutic use , Placenta , Pregnancy , Tuberculosis, Miliary/complications , Tuberculosis, Miliary/diagnosis , Tuberculosis, Miliary/drug therapy , Tuberculosis, Pulmonary/microbiologyABSTRACT
OBJECTIVE: This study aimed to clarify the effectiveness of cervical cerclage in preventing recurrent preterm births. MATERIALS AND METHODS: A retrospective study was conducted using the perinatal registration database of the Japan Society of Obstetrics and Gynecology for the Perinatal Center from 2014 to 2016. The efficacies of history-indicated, ultrasound-indicated, and physical examination-indicated cerclage as preventive treatments for women with a history of preterm birth were evaluated by comparing cerclage and non-cerclage cases. Fisher's exact test was performed to evaluate any significant differences in patient backgrounds. Prior to the evaluation, propensity score matching was performed for history-indicated and ultrasound-indicated cerclage patients. RESULTS: For this study, 6060 multiparous women with a history of preterm birth were reviewed. After excluding 17 patients with unknown indications for cervical cerclage, 6043 patients were included in the study. History-indicated and ultrasound-indicated cerclage did not reduce the risk of preterm birth in subsequent pregnancies for any of the pregnancy periods (p = 0.413, p = 1.000). In contrast, physical examination-indicated cerclage significantly reduced the risk of subsequent preterm births for all pregnancy periods (p < 0.001). CONCLUSION: Subsequent preterm births were effectively prevented only in physical examination-indicated cerclage cases. For history- or ultrasound-indicated cerclage, statistically significant differences in subsequent preterm births were not evident.
Subject(s)
Cerclage, Cervical/methods , Premature Birth/prevention & control , Adult , Cervical Length Measurement , Female , Humans , Infant, Newborn , Japan/epidemiology , Parturition , Pregnancy , Pregnancy Outcome/epidemiology , Premature Birth/epidemiology , Retrospective StudiesABSTRACT
AIM: A large cohort study of Japanese women reported that the rate of recurrent spontaneous preterm delivery (sPTD) in the next pregnancy was 22.3%; therefore, it is important to prevent recurrent sPTD. The present study investigated the rate of recurrent sPTD in pregnant women treated with probiotics. METHODS: This was a retrospective study. Fifty-one pregnant women with a history of sPTD and who had been taking probiotics before 14 weeks of gestation were selected. The rate of sPTD in the next pregnancy among 255 pregnant women with a history of sPTD who had not taken probiotics was compared with that in the probiotics group. RESULTS: The rate of recurrent sPTD was 9.8% (5/51), which was lower than previously reported values. Furthermore, the rate of recurrent sPTD was significantly lower in the probiotics group (9.8%) than in the nonprobiotics group (31.0% [79/255]; p = 0.002). CONCLUSIONS: Probiotics may reduce the rate of recurrent sPTD.
Subject(s)
Clostridium butyricum , Enterococcus faecium , Premature Birth , Probiotics , Bacillus subtilis , Cohort Studies , Female , Humans , Infant, Newborn , Pregnancy , Premature Birth/prevention & control , Probiotics/pharmacology , Probiotics/therapeutic use , Retrospective StudiesABSTRACT
BACKGROUND: A history of preterm birth is a risk factor for preterm birth in a future pregnancy, and there are some reports of prevention methods, such as the administration of progesterone. However, the rate of recurrence of preterm birth in Japan has not been clarified, and there is no data for judging whether these preventive methods are effective. OBJECTIVE: To clarify the risk of recurrence of preterm birth and preterm prelabor rupture of membranes (pPROM) in Japan. MATERIALS AND METHODS: A retrospective study was conducted using the perinatal registration database of the Japan Obstetrics and Gynecology Society for the Perinatal Center from 2014 to 2016. There were 704,418 subjects, of which 190,990 were excluded those with unknown maternal information, those under the age of 20 years, those with perinatal disease related to preterm birth, and first-time mothers. RESULTS: Logistic model unavailable and multivariate analysis were performed. An analysis of the preterm birth history indicated the risk of preterm birth in the current pregnancy, and the odds ratio for preterm birth recurrence once, twice, and three times or more was 3.3, 6.6, and 7.8, respectively. As a secondary analysis, we analyzed whether the history of pPROM is a risk factor of recurrence of pPROM and found a significant association with an odds ratio of 3.4. CONCLUSION: Having a preterm birth history increases the risk of recurrence of preterm birth, and the risk of recurrent preterm birth increases as the number of preterm births increases. Although this report is intended for high-risk pregnancies wherein the rate of preterm birth is high, as previously reported, our data indicate that in Japan, preterm birth is a risk factor of recurrent preterm birth.
Subject(s)
Fetal Membranes, Premature Rupture , Premature Birth , Adult , Female , Fetal Membranes, Premature Rupture/epidemiology , Gestational Age , Humans , Infant, Newborn , Japan/epidemiology , Pregnancy , Pregnancy Outcome , Premature Birth/epidemiology , Premature Birth/etiology , Retrospective Studies , Risk Factors , Young AdultABSTRACT
TET3 at 2p13.1 encodes tet methylcytosine dioxygenase 3, a demethylation enzyme that converts 5-methylcytosine to 5-hydroxymethylcytosine. Beck et al. reported that patients with TET3 abnormalities in either an autosomal dominant or recessive inheritance fashion clinically showed global developmental delay, intellectual disability, and dysmorphisms. In this study, exome sequencing identified both mono- and biallelic TET3 variants in two families: a de novo variant NM_001287491.1:c.3028 A > G:p.(Asn1010Asp), and compound heterozygous variants NM_001287491.1:c.[2077 C > T];[2896 T > G],p.[Gln693*];[Cys966Gly]. Despite the different inheritance modes, the affected individuals showed similar phenotypic features. Including these three patients, only 14 affected individuals have been reported to date. The accumulation of data regarding individuals with TET3-related disorder is necessary to describe their clinical spectrum.
Subject(s)
Craniofacial Abnormalities , Dioxygenases , Intellectual Disability , Dioxygenases/genetics , Humans , Intellectual Disability/genetics , Exome SequencingABSTRACT
BACKGROUND: Preeclampsia (PE) is a hypertensive disorder specific to pregnancy that can cause severe maternal-neonatal complications. The International Society for the Study of Hypertension in Pregnancy revised the PE criteria in 2018; a PE diagnosis can be established in the absence of proteinuria when organ or uteroplacental dysfunction occurs. The initial findings of PE (IFsPE) at the first diagnosis can vary considerably across patients. However, the impacts of different IFsPE on patient prognoses have not been reported. Thus, we investigate the predictors of pregnancy complications and adverse pregnancy outcomes based on IFsPE according to the new criteria. METHODS: This retrospective study included 3729 women who delivered at our hospital between 2015 and 2019. All women were reclassified based on the new PE criteria and divided into three groups based on the IFsPE: Classification 1 (C-1), proteinuria (classical criteria); Classification 2 (C-2), damage to other maternal organs; and Classification 3 (C-3), uteroplacental dysfunction. Pregnancy complications and adverse pregnancy outcomes were assessed and compared among the three groups. RESULTS: In total, 104 women with PE were included. Of those, 42 (40.4%), 28 (26.9%), and 34 (32.7%) were assigned to C-1, C-2, and C-3 groups, respectively. No significant differences in maternal characteristics were detected among the three groups, except for gestational age at PE diagnosis (C-1, 35.5 ± 3.0 weeks; C-2, 35.2 ± 3.6 weeks; C-3, 31.6 ± 4.6 weeks, p < 0.01). The rates of premature birth at < 37 weeks of gestation, fetal growth restriction (FGR), and neonatal acidosis were significantly higher in the C-3 group compared to the C-1 and C-2 groups. Additionally, the composite adverse pregnancy outcomes of the C-3 group compared with C-1 and C-2 represented a significantly higher number of patients. CONCLUSIONS: PE patients with uteroplacental dysfunction as IFsPE had the most unfavorable prognoses for premature birth, FGR, acidosis, and composite adverse pregnancy outcomes.
Subject(s)
Guidelines as Topic , Pre-Eclampsia/classification , Pre-Eclampsia/diagnosis , Pregnancy Complications/classification , Pregnancy Complications/diagnosis , Female , Humans , Pregnancy , Pregnancy Outcome , Prognosis , Retrospective StudiesABSTRACT
BACKGROUND: Secondary hemophagocytic lymphohistiocytosis (sHLH) is a rare and fatal disease characterized by uncontrolled immune cell activation that can lead to a cytokine storm. Unfortunately, this condition can occur even during pregnancy, threatening both maternal and fetal lives. CASE PRESENTATION: A 23-year-old nulliparous woman at 26 weeks of gestation presented with continuous fever, coughing, and sore throat. Upon arrival at our hospital, her temperature was >38°C and laboratory findings indicated cytopenia (neutrophil count, 779/µL; hemoglobin level, 10.2 g/dL; platelet count, 29,000/µL), elevated ferritin level (1,308 ng/mL), and elevated soluble interleukin-2 receptor level (11,200 U/mL). Computed tomography showed marked splenomegaly. Bone marrow examination revealed hemophagocytosis, and blood examination showed a plasma Epstein-Barr virus (EBV) DNA level of 8.9 × 105 copies/µg. The monoclonal proliferation of EBV-infected T cells was confirmed by Southern blotting, and the patient was diagnosed with chronic active EBV-associated sHLH and T-cell lymphoproliferative disease. Immediately after admission, the patient's condition suddenly deteriorated. She developed shock and disseminated intravascular coagulation, requiring endotracheal intubation along with methylprednisolone pulse and etoposide therapy. Although the patient recovered, she delivered a stillborn baby. After delivery, she was treated with reduced-dose dexamethasone, etoposide, ifosfamide, and carboplatin (DeVIC) and steroid (dexamethasone), methotrexate, ifosfamide, L-asparaginase, and etoposide (SMILE) chemotherapies. Five months after diagnosis, she received human leukocyte antigen-haploidentical allogeneic bone marrow transplantation from her sister. She remains in remission for 5 months from the time of transplantation to the present. CONCLUSIONS: sHLH, which may cause maternal and fetal death, should be carefully considered in critically ill pregnant women, particularly those presenting with continuous fever and cytopenia.