De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for the genetic etiology of this disorder. Four individuals diagnosed with kyphomelic dysplasia were enrolled.

Stepwise Treatment for Abnormally Invasive Placenta with Placenta Previa.

Placenta accreta spectrum (PAS) disorder often causes a large amount of intraoperative bleeding in a short period which makes maternal circulation unstable and threatens life. As a countermeasure, two-stage surgery combined with selective uterine arterial embolization (UAE), named "stepwise treatment" was introduced in 2003. At a cesarean section (CS), only the baby is delivered and the placenta is left in situ.

Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

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.

Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.

Objective: The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP).

Methods: Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis.

Efficacy and safety of daikenchuto (TJ-100) in pregnant women with constipation.

Objective: Constipation is common and a significant problem in pregnant women. The purpose of this study was to examine the efficacy and the safety of daikenchuto in pregnant women with constipation.

Material And Methods: This was a prospective study, and a total of 20 patients were registered between February 2010 and August 2012.

Endometrial Cancer with Sarcoidosis in Regional Lymph Nodes: A Case Report.

Sarcoidosis is a chronic, multisystemic disease commonly affecting the lungs and lymphatic system and is characterized by the formation of noncaseating granulomas. Although several reports are available on cases developing both sarcoidosis and cancer metachronously, cases of simultaneous diagnosis of these diseases have rarely been reported. A 67-year-old woman diagnosed with endometrial cancer had developed systemic lymph node swelling, including bilateral hilar, paraaortic, and a few pelvic lymph nodes, as observed on preoperative imaging.

Effect of placenta previa on neonatal respiratory disorders and amniotic lamellar body counts at 36-38weeks of gestation.

Background: Pregnancies with placenta previa are significantly associated with preterm delivery and cesarean section. Therefore particular attention should be paid to the incidence of neonatal respiratory disorders in pregnancies with placenta previa.

Aims: The purpose of this study is to examine the relationship between placenta previa and neonatal respiratory disorders, including respiratory distress syndrome (RDS) and transient tachypnea of the newborn (TTN), and to evaluate the impact of placenta previa on the amniotic lamellar body count (LBC) values.

Lower gefitinib dose led to earlier resistance acquisition before emergence of T790M mutation in epidermal growth factor receptor-mutated lung cancer model.

Non-small-cell lung cancers with epidermal growth factor receptor (EGFR) mutations are sensitive to EGFR tyrosine kinase inhibitors (TKIs); however, unlike cytotoxic agents, it is generally accepted that minimal doses of drugs inhibiting target molecules are sufficient when molecular-targeted agents, including EGFR-TKIs, are used. Thus, any utility of higher doses remains unclear. We compared low-dose (15 mg/kg) gefitinib therapy with high-dose (50 mg/kg) therapy using an EGFR-mutated lung cancer xenograft model.

Usefulness of endobronchial ultrasound-guided transbronchial needle aspiration in distinguishing sarcoidosis from recurrent cancer in patients with lymphadenopathy after surgery.

Objective: Endobronchial ultrasound-guided transbronchial needle aspiration is a new minimally invasive test for investigating mediastinal and hilar lymphadenopathy. It is sometimes difficult to distinguish between a recurrent malignant lymph node and lymphadenopathy due to sarcoidosis in patients who develop lymphadenopathy after surgery for a malignant tumor.

Methods: Between December 2009 and October 2012, we performed endobronchial ultrasound-guided transbronchial needle aspiration in 13 selected patients with a suspected recurrence in the mediastinum and/or hilum of the lung after surgical resection of a malignant tumor.

Impact of physical size on gefitinib efficacy in patients with non-small cell lung cancer harboring EGFR mutations.

Gefitinib is an essential drug for the treatment of non-small cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) gene mutations. The approved dosage is 250 mg/body/day without adjustment for physical size such as body surface area (BSA), and the impact of physical size on the efficacy of gefitinib has not been evaluated. Here, we sought to clarify this issue using a retrospective cohort.

Serum biomarker analysis of collagen disease patients with acute-onset diffuse interstitial lung disease.

Background: Interstitial lung disease (ILD) is frequently associated with collagen diseases. The prognosis of acute-onset diffuse ILD (AoDILD) occurring in collagen disease patients is very poor. Here, we investigated serum biomarker profiles of AoDILD to find markers predicting outcome in patients with collagen diseases.

Maternal mental disorders and pregnancy outcomes: a clinical study in a Japanese population.

Aim: To assess the maternal and neonatal outcomes of pregnant women with mental disorders in Japan.

Material And Methods: We conducted this retrospective cohort study to examine the patients who delivered at Nagoya University Hospital (2005-2009). Thereafter, the patients without any complications other than mental disorders and with several sources of psychiatric information were included in the present series, and the maternal and neonatal outcomes between patients with or without maternal mental disorders were compared.

Amniotic lamellar body counts can predict the occurrence of respiratory distress syndrome as well as transient tachypnea of the newborn (TTN).

Aims: The purpose of this study is to predict the occurrence of transient tachypnea of the newborn (TTN) using amniotic lamellar body count (LBC) and compare the LBCs in neonates with TTN with the LBCs in neonates with respiratory distress syndrome (RDS) and controls.

Methods: Three hundred and eighty-one amniotic fluid samples were obtained at cesarean section from 27 to 40 weeks of gestation. Samples were analyzed immediately without centrifugation and the number of lamellar bodies was counted.

Intra-amniotic infection increases amniotic lamellar body count before 34 weeks of gestation.

Objective: To examine the lamellar body count (LBC) value in intra-amniotic infection cases and evaluate its association with the incidence of respiratory distress syndrome (RDS).

Methods: Three hundred sixty-five amniotic fluid (AF) samples were obtained at caesarean section from 27 to 38 weeks of gestation. LBC and glucose concentrations in AF were measured with no centrifugation.

Histamine stimulates interleukin-6 production through histamine H1 receptors in human amnion cells.

Background/aims: Previous studies have stated that maternal allergic diseases are associated with increased risk of preterm labor/delivery, but the underlying mechanisms remain unclear. This study tested the hypothesis that histamine induces interleukin (IL)-6 production in amnion cells.

Methods: Using cultured human amnion cells, we examined expression of histamine receptors and effects of histamine on IL-6 production.

Tocilizumab inhibits interleukin-6-mediated matrix metalloproteinase-2 and -9 secretions from human amnion cells in preterm premature rupture of membranes.

Background/aims: In the present study, we investigated the participation of inflammatory cytokine-induced mediated matrix metalloproteinase (MMP) expressions and inhibition of interleukin (IL)-6-induced MMP secretion in amniotic epithelial cells by tocilizumab.

Methods: To investigate the role of MMP expressions, immunohistochemical staining was performed using membranes obtained from 10 patients with preterm premature rupture of membranes (PPROM) and from 10 patients who underwent a nonlabor cesarean section. We also investigated the regulation of MMP expression by inflammatory cytokines in human amnion cells.

Diffuse chronic leptomeningitis with seropositive rheumatoid arthritis: report of a case successfully treated as rheumatoid leptomeningitis.

A case of biopsy-confirmed chronic leptomeningitis complicating rheumatoid arthritis in a 53-year old female is reported. Her symptoms included weight loss, severe depression, and pyrexia. Magnetic resonance imaging was useful in diagnosis.

Activator protein-2 impairs the invasion of a human extravillous trophoblast cell line.

The reduced migration/invasion of extravillous trophoblasts (EVTs) is a key feature of the genesis of preeclampsia. We and others previously reported that transcriptional factors activator protein-2 (AP-2) alpha and AP-2gamma act as suppressors of tumor invasion. The present study examined the expressions of AP-2alpha and AP-2gamma in preeclamptic placenta vs.

Angiotensin II mimics the hypoxic effect on regulating trophoblast proliferation and differentiation in human placental explant cultures.

Regulation of cytotrophoblast differentiation toward extravillous trophoblasts (EVTs) is critical for establishing successful pregnancy. Previous studies have focused primarily on the factors promoting the differentiation, while inhibitory regulators except hypoxia have been less documented. In this study, to test our hypothesis that angiotensin II (Ang II) would inhibit EVT differentiation, we investigated the effects of Ang II on trophoblast outgrowth and the expression of molecules associated with the proliferation and invasion of trophoblasts using human first trimester villous explant cultures.

Placenta previa increta/percreta in Japan: a retrospective study of ultrasound findings, management and clinical course.

Aim: Placenta accreta is an abnormally firm attachment of placental villi to the uterine wall, which may cause postpartum hemorrhage resulting in maternal morbidity and mortality. The purpose of the present study was to clarify the incidence, clinical background and prognosis of placenta previa increta/percreta treated with different modalities in Japan.

Methods: Medical records of cases with placenta previa increta/percreta in eight tertiary centers between January 1994 and December 2004 were reviewed.

The MRI findings of the right-sided fetal lung can be used to predict postnatal mortality and the requirement for extracorporeal membrane oxygenation in isolated left-sided congenital diaphragmatic hernia.

We evaluated whether a correlation existed between fetal pulmonary magnetic resonance imaging (MRI) findings and postnatal mortality, as well as the requirements for extracorporeal membrane oxygenation (ECMO) in infants with prenatally diagnosed, isolated left-sided congenital diaphragmatic hernia (CDH). Twenty-one pregnant women carrying fetuses with CDH underwent 30 MRI scans, and the right-sided fetal lung volume (FLV) was measured. In the control, a regression analysis was performed to associate FLV with gestational age.

Diagnostic utility of anti-cyclic citrullinated peptide antibodies for very early rheumatoid arthritis.

Objective: To compare the diagnostic utility of anti-cyclic citrullinated peptide (anti-CCP) antibodies with other serological markers including rheumatoid factor (RF), anti-agalactosyl immunoglobulin G (IgG) antibody, and matrix metalloproteinase (MMP)-3 in very early rheumatoid arthritis (RA).

Methods: Serum concentrations of anti-CCP antibodies, RF, anti-agalactosyl IgG antibody, and MMP-3 were measured in 262 patients with RA ("total RA") including 55 patients with disease duration of less than 6 months who had not been treated before entry ("very early RA") and 116 patients with rheumatic diseases other than RA.

Results: The diagnostic sensitivity of anti-CCP antibodies was 82.

Methods for myometrium closure and other factors impacting effects on cesarean section scars of the uterine segment detected by the ultrasonography.

Objective: Ultrasound examination is an objective method for assessment of uterine scar defects. The present study was conducted to compare single-layer interrupted sutures (Group A) with double-layer interrupted sutures (Group B) and our new method (Group C) as well as other perioperative parameters in relation to risk of wedge defects in scars.

Methods: We have introduced a new myometrium closure procedure consisting of continuous suture with decidual closure followed by interrupted myometrium suture.