Spontaneously Resolved Suspected Hemophagocytic Lymphohistiocytosis or Macrophage Activating Syndrome Associated with Neonatal Lupus Erythematosus: A Case Report.

OBJECTIVES: To present a rare case of neonatal lupus erythematosus (NLE) associated with suspected hemophagocytic lymphohistiocytosis (HLH) or macrophage activation syndrome (MAS). CASE PRESENTATION: A female infant weighing 2,995 g was born to a mother without medical history of any disease. At birth, the patient had erythematous papules on her face and trunk. She was admitted at 1 day of age with elevated C-reactive protein levels. The patient was diagnosed with NLE based on the presence of anti-Ro/SSA and anti-La/SSB antibodies. Thereafter, it became clear that the antibody levels in her mother were also elevated. At 20 days of age, the infant showed elevated transaminases, ferritin, triglyceride, and soluble interleukin-2 receptor levels. Although HLH or MAS was suspected, she did not fulfill the diagnostic criteria. Thereafter, these abnormal values spontaneously improved, and the skin rash improved with the use of topical steroids. The patient was discharged at 39 days of age. At 1 year of age, the patient's growth and development were normal. CONCLUSION: NLE should be considered in infants with an unexplained skin rash at birth. When a diagnosis is made, close observation of the infant's clinical features is needed to determine whether they will develop HLH or MAS.

Downregulation of SPARC Expression Enhances the Fusion of BeWo Choriocarcinoma Cells.

Syncytiotrophoblasts, which are formed by the fusion of villous cytotrophoblasts, play an essential role in maintaining a successful pregnancy. Secreted protein acidic and rich in cysteine (SPARC) is a non-structural Ca2+-binding extracellular matrix glycoprotein involved in tissue remodeling and cell proliferation, differentiation, and migration. Previous studies have revealed that SPARC is expressed in villous and extravillous cytotrophoblasts in the first trimester and that RNA interference targeted at SPARC significantly inhibited invasion of human extravillous trophoblast HTR8/SVneo cells. However, the involvement of SPARC in cytotrophoblast fusion remains unknown. This study aimed to investigate the role of SPARC in cytotrophoblast fusion, using the BeWo choriocarcinoma cell line as a model of villous cytotrophoblasts. Immunohistochemical analysis was conducted to assess SPARC expression in normal human placentas using placental tissues obtained during the first and third trimesters of pregnancy. We investigated the effects of SPARC knockdown on trophoblast differentiation markers and cell fusion in BeWo cells using small interfering RNA. Immunohistochemical analysis revealed that SPARC expression was high in the early gestational chorionic villi and low in the late gestational chorionic villi. SPARC knockdown increased the expressions of human chorionic gonadotropin and Ovo-like transcriptional repressor 1; however, glial cells missing transcription factor 1, syncytin-1, and syncytin-2 showed no significant changes. The assessment revealed that SPARC knockdown significantly enhanced cell fusion compared to the non-silencing control. Our data suggest that SPARC plays a vital role in regulating trophoblast fusion and differentiation during placental development.

Is Cervical Length a Useful Predictor of Antepartum Hemorrhage in Patients with Placenta Previa?

OBJECTIVE: Placenta previa complicates 0.3-0.5% of pregnancies and can cause sudden antepartum massive hemorrhage (APH). Previous studies have indicated that cervical length (CL) measured by transvaginal ultrasonography may be a predicting parameter for APH in patients with placenta previa; however, conflicting data exist. Thus, we investigated the association between CL and APH in patients with placenta previa. METHODS: In total, 129 singleton pregnant women with placenta previa, who delivered at our institution from January 2010 to December 2016, were included in this study. The shortest CL measured throughout gestation was used for analysis, and we defined CL less or more than 30 mm as short or normal CL, respectively. We performed univariate and multivariate analyses, and a receiver-operating characteristics (ROC) curve was plotted to determine the cut-off CL value to predict APH. RESULTS: APH occurred in 26 patients. The adjusted odds ratio for APH was 3.80 (95% CI, 1.36-10.65) in patients with short CL. ROC analysis was performed to determine a cut-off CL value of 35 mm to predict APH, with a sensitivity of 80.7% and a specificity of 60.2%. CONCLUSIONS: Our data indicated that CL measurements may be useful in determining patients at high risk of APH.

Diffuse Non-obstructive Bowel Dilatation in utero: Report of a Case with a Unique Presentation.

Thus far, few reports have described the rare, non-obstructive type of fetal diffuse bowel dilatation. We describe such a case in the fetus of a 31-year-old Pakistani pregnant woman, gravida 3, para 2. A series of ultrasonographic examinations in the third trimester showed a "honeycomb" appearance of fetal d iffuse dilated bowel loops, a mildly enlarged stomach, and mild polyhydramnios. Magnetic resonance imaging further revealed fluid-filled dilated bowel loops extending to the colon and rectum. The male neonate was born at 36 weeks and had marked abdominal distension but did not show signs of mechanical bowel obstruction. He passed a profuse amount of liquid with meconium at 4 h of life. Thereafter, his distended abdomen and bowel dilatation subsided, and he became asymptomatic within a week of life. Taken together with previous case reports, among infants who show the "honeycomb" sign in utero, there definitely exists a subset with a favorable outcome and an unknown etiology. This case alerts physicians who are responsible for perinatal care to the fact that careful assessment is required for a newborn when the "honeycomb" sign is observed via fetal imaging. Without evidence of mechanical bowel obstruction, alternative etiologies should be sought to avoid unnecessary laparotomy.

Retained Products of Conception Fed by the Inferior Mesenteric Artery: A Case Report.

Retained products of conception (RPOC) refer to the persistence of placental or fetal tissue in the uterus following delivery or miscarriage. RPOC may cause massive postpartum or post-abortion hemorrhage. Arterial embolization (AE) is an effective choice of management for postpartum hemorrhage including RPOC. We report a case of hemorrhagic RPOC, in which uterine artery embolization with transcervical resection did not achieve hemostasis, and laparotomy with uterine compression sutures was subsequently required. The RPOC was apparently fed by an aberrant branch derived from the inferior mesenteric artery (IMA). AE of IMA was not performed because of possible necrosis of the descending colon and rectum. A physician should be aware that AE is not an all-encompassing hemostatic technique for postpartum bleeding, such as with RPOC, and should keep alternatives in mind.

Monochorionic Diamniotic Twin Pregnancy; a Retrospective Study on Twintwin Transfusion Syndrome and Related Disorders.

OBJECTIVE: We assessed the clinical characteristics and perinatal outcome of disorders specific to monochorionic diamniotic (MD) twin pregnancies, focusing on twin-twin transfusion syndrome (TTTS) and related disorders, such as selective intrauterine growth restriction (sIUGR), inter-twin amniotic fluid discordance (AFD), and twin anemia polycythemia sequence (TAPS). METHODS: We retrospectively reviewed 69 cases of MD twin pregnancies delivered after 22 weeks at our institution from January 2009 to September 2013. RESULTS: TTTS occurred in 9 cases (13%). There was a total of 11 cases (16%) of MD twins with sIUGR in this period. One case developed TTTS. All 3 cases (4%) of AFD in this study developed TTTS or sIUGR. CONCLUSION: AFD should be recognized as predictors of TTTS or sIUGR. Further studies on TTTS-related disorders allow a more precise subgroup categorization that enables optimal management.

Acquired Factor XI Deficiency with Lupus Anticoagulant in a Pregnant Woman Diagnosed by the Eruptions and Pain in Fingers.

We report a case of acquired factor XI deficiency with lupus anticoagulant (LA) in a 28-year-old primigravida who presented with finger pain and eruptions on her palms and fingers during the 3rd trimester of pregnancy. The patient complained of pain and reddening of the fingers at 30 weeks of gestation. She was referred to our tertiary center with a diagnosis of preeclampsia and suspected collagen disease at 35 weeks of gestation. Erythema was seen on the fingers and palms, and she presented with pain and cryesthesia on the fingers. Laboratory investigations revealed an activated partial thromboplastin time of 51 s (normal, 23-40 s), although it was normal during the 30th and 34th gestational weeks, LA with an anticardiolipin-beta2-glycoprotein I complex antibody, and low level of clotting XI activity (25 U/mL). On week 37 day 0 of gestation, the patient presented with severe hypertension. An urgent Cesarean section was performed after transfusion of two units of fresh frozen plasma. There was no excessive bleeding during the surgery or the postpartum period. The symptoms on her fingers and palms gradually improved after surgery. Our case indicates that dermatoses of pregnancy may become a starting point for the diagnosis of autoimmune diseases and coagulation abnormalities. When a patient presents with an atypical symptom, as in our case, the possibility of various diseases should be considered.

Atypical Presentation of Duodenal Atresia Concomitant with Type-A Esophageal Atresia in Fetal Life: A Case Report.

Duodenal atresia concomitant with type-A esophageal atresia (DA + TA-EA) is rare. A pronounced enlargement of a closed loop of the upper gastrointestinal tract serves as an early clue for its prenatal detection. We describe an atypical case of DA + TA-EA in which the dilatation of the upper gastrointestinal tract remained mild. Ultrasonographic examination at 28 weeks of gestation showed mild polyhydramnios. Subsequent detailed sonographic and magnetic resonance imaging studies revealed a mildly enlarged stomach and duodenum that resembled a "double bubble," mild ascites, and polydactyly of the right thumb. Fetal abdominal circumference measurements were within normal range. A female neonate born at 36 weeks gestation did not show abdominal distension. DA + TA-EA was diagnosed based on clinical characteristics and X-ray studies of the neonate; the diagnosis was confirmed by surgery. Duodenoduodenostomy and gastrostomy in the first week of life and esophagoesophagostomy at six months of age were performed with satisfactory results, and the infant developed well. Prominent and/or increasing C-shaped fluid collection in the upper abdomen is a highly useful diagnostic sign for DA + TA-EA, but it is not applicable for all fetuses with this disease. Physicians should bear this caveat in mind to avoid diagnostic delays and initiate prompt postnatal therapy.

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey-wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype and genotype of two affected siblings. The affected boy and girl died in early infancy and shortly after birth, respectively. The clinical hallmarks included mid-face hypoplasia, thoracic hypoplasia with respiratory failure, very short stature (approximately -7 SD of birth length) with mesomelic shortening of the limbs, and multiple dislocations of the large joints. Radiological examinations showed prominent lesser trochanter, flared metaphyses of the long bones, and joint dislocations. The affected boy had preaxial digital hypoplasia, and the affected girl showed overlapping and syndactyly of the preaxial digits. Molecular analyses of the girl showed compound heterozygous variants in FAM20B (NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). FAM20B encodes glycosaminoglycan xylosylkinase, which acts downstream of xylosyltransferase-1. Given the fact that FAM20B deficiency causes skeletal phenotypes in mice and zebrafish, these variants are highly probable to be pathogenic.

Uterine rupture at 26 weeks of pregnancy following laparoscopic salpingectomy with resection of the interstitial portion: a case report.

Uterine rupture in pregnancy can occur in patients with a history of uterine surgery such as myomectomy and Cesarean section. Here, we report a case of spontaneous uterine rupture that occurred in the early third trimester in a pregnant woman who had previously undergone laparoscopic removal of the right fallopian tube and interstitial portion for treatment of interstitial pregnancy. The patient presented with sudden onset of abdominal pain at 26 weeks of gestation. Detailed ultrasonography and magnetic resonance imaging led to diagnosis of uterine rupture. In emergency laparotomy, the fetus was delivered by Cesarean section, the placenta and membranes were removed, and the uterus was preserved with closure of the rupture and wound. This case highlights the importance of close follow-up of a pregnant patient who has previously had a uterine incision. The case also raises the question of whether the prevalence of uterine rupture may increase as more patients are treated with laparoscopic surgery of the uterus.

Evaluation of 25 years of Uterine Cervical Cancer Screening at Tokai University Hospital Health Evaluation and Promotion Center.

The total number of persons who underwent uterine cervical cancer screening at the Tokai University Hospital Health Evaluation and Promotion Center during the 25-year period from January 1976 to March 2001 was 30,173 (gross number: 111,181). Since 1995, more than 6,500 females have visited the center annually, and more than 70% were 40-59 years of age. Among these females, 849 exhibited atypical changes higher than class IIIa in the cytological examination (class IIIa: 779, IIIb: 43. IV: 14 and V: 13), and the detection rate was 0.76%. In examining the relationship between the age and number of visits to the center and the detection rate of atypical changes observed in the cytological examination, patients in their 40s exhibited the highest detection rate (1.31%), and the rate at the first screening was 1.19%. Analysis of the age distribution for the detection rate of atypical changes in the cytological examination before 1989 and after 1990 showed that persons in their 40s and 50s had high rates (1.62% and 1.69%, respectively) before 1989, but since 1990 persons in their 20s, 30s and 40s exhibited high rates (2.86%, 2.16% and 2.61%, respectively) (p ＜ 0.001). This suggests a lowering of the age at which atypical changes are observed in the cytological examination.