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Nagakawa A.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Nagakawa A.,National Hospital Organization Tokyo Medical Center | Arata N.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Mito A.,Center for Maternal Fetal Neonatal and Reproductive Medicine | And 5 more authors.
Modern Rheumatology

Although the symptoms of systemic lupus erythematosus (SLE) worsen during pregnancy, few previous studies have reported lupus enteritis in pregnant women with SLE. A 29-year-old pregnant Japanese woman presented with acute abdomen. Six years before pain onset, she developed pure red cell aplasia and tested positive for anti-Ro (SS-A) and anti-La (SS-B) antibodies. Anti-DNA antibodies were detected two and a half years later. The patient remained asymptomatic until she developed acute abdomen. A mild increase in anti-DNA antibody levels and a mild decrease in complement levels were observed, and abdominal ultrasound and magnetic resonance imaging revealed the presence of large-volume ascites and edematous thickening of the small intestinal wall. These findings established the diagnosis of lupus enteritis. Her condition improved after treatment with prednisolone 50 mg/day, and she delivered a female infant weighing approximately 1810 g at 37 weeks of gestation. Our study suggests that lupus enteritis should be suspected in female patients with autoimmune disease who develop acute abdomen during pregnancy, and that magnetic resonance imaging is useful in its diagnosis. © 2015 Japan College of Rheumatology Source

Saito K.,National Health Research Institute | Saito K.,Tokyo Medical and Dental University | Saito K.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Miyado M.,National Health Research Institute | And 11 more authors.
Journal of Human Genetics

Although copy-number variations (CNVs) in Y-chromosomal azoospermia factor (AZF) regions have been associated with the risk of spermatogenic failure (SF), the precise frequency, genomic basis and clinical consequences of these CNVs remain unclear. Here we performed multiplex ligation-dependent probe amplification (MLPA) analysis of 56 Japanese SF patients and 65 control individuals. We compared the results of MLPA with those of conventional sequence-tagged site PCR analyses. Eleven simple and complex CNVs, including three hitherto unreported variations, were identified by MLPA. Seven of the 11 CNVs were undetectable by conventional analyses. CNVs were widely distributed in AZF regions and shared by ∼60% of the patients and ∼40% of the controls. Most breakpoints resided within locus-specific repeats. The majority of CNVs, including the most common gr/gr deletion, were identified in the patient and control groups at similar frequencies, whereas simple duplications were observed exclusively in the patient group. The results imply that AZF-linked CNVs are more frequent and heterogeneous than previously reported. Non-allelic homologous recombination likely underlies these CNVs. Our data confirm the functional neutrality of the gr/gr deletion in the Japanese population. We also found a possible association between AZF-linked simple duplications and SF, which needs to be evaluated in future studies. © 2015 The Japan Society of Human Genetics. Source

Mito A.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Arata N.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Sakamoto N.,Juntendo University | Miyakoshi K.,Keio University | And 5 more authors.
Hypertension in Pregnancy

Objective: To assess the present status of clinical care for postpartum patients with hypertensive disorders of pregnancy (HDP) in Japan. Methods: We conducted a nationwide questionnaire survey of obstetricians, internists and hypertension specialists and analyzed 686 valid responses. Results: Though HDP is widely known as a risk factor for subsequent hypertension and cardiovascular disease, over one-third of obstetricians terminated their postpartum follow-up of HDP patients without referring them to other departments. Conclusion: It is important to establish an effective referral system, whereby patients with HDP can be smoothly transferred to primary care or a specialist physician after childbirth for long-term monitoring and management of blood pressure. © 2015 Informa Healthcare USA, Inc. Source

Katsumi M.,Center for Maternal Fetal Neonatal and Reproductive Medicine | Ishikawa H.,Tokyo Dental College | Tanaka Y.,Tokyo Dental College | Saito K.,Center for Maternal Fetal Neonatal and Reproductive Medicine | And 9 more authors.
Cytogenetic and Genome Research

Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. In this study, we identified a hitherto unreported microduplication in the AZFa region in a Japanese male individual. The 629,812-bp duplication contained 22 of 46 exons of USP9Y, encoding the putative fine tuner of spermatogenesis, together with all exons of 3 other genes/pseudogenes. The breakpoints of the duplication resided in the DNA/TcMar-Tigger repeat and nonrepeat sequences, respectively, and were associated with a 2-bp microhomology, but not with short nucleotide stretches. The breakpoint-flanking regions were not enriched with GC content, palindromes, or noncanonical DNA structures. Semen analysis of the individual revealed a normal sperm concentration and mildly reduced sperm motility. The paternal DNA sample of the individual was not available for genetic analysis. The results indicate that CNVs in AZF regions can be generated by microhomology-mediated break-induced replication in the absence of known rearrangement-inducing DNA features. AZFa-linked microduplications likely permit production of a normal amount of sperm, although the precise clinical consequences of these CNVs await further investigation. © 2015 S. Karger AG, Basel. Source

Saito K.,National Health Research Institute | Saito K.,Tokyo Medical and Dental University | Matsuzaki T.,Tokushima University | Iwasa T.,Tokushima University | And 11 more authors.
Journal of Steroid Biochemistry and Molecular Biology

The conventional δ5 and δ4 steroidogenic pathways mediate androgen production in females. While multiple non-conventional pathways to dihydrotestosterone (DHT) have recently been postulated in humans, the functional significance of these pathways remains to be elucidated. The aim of this study was to clarify the origin of androgens in healthy women and in patients with polycystic ovary syndrome (PCOS), a multifactorial disorder characterized by androgen overproduction. We measured 13 steroids in blood samples of 31 eumenorrheic females and 28 PCOS patients using liquid chromatography-tandem mass spectrometry and chemiluminescent enzyme immunoassay. We found that 17-hydroxy (17-OH) progesterone (17-OHP), androstenedione (δ4A), testosterone, androstanedione, androsterone, and androstanediol levels were higher in the patient group than in the eumenorrheic group, while levels of other steroids were comparable between the two groups. In the eumenorrheic group, DHT levels were correlated with testosterone, androstanedione, and androstanediol. Quantitative correlations were also observed among 17-OH allopregnanolone, androsterone, androstanediol, and DHT, and among δ4A, androstanedione, androsterone, and androstanediol. In the patient group, DHT levels were correlated with testosterone levels, but not with androstanedione or androstanediol levels. δ4A and testosterone paralleled 17-OHP. Androstanedione, androsterone, androstanediol, and 17-OH allopregnanolone were quantitatively correlated. In both groups, multivariable linear regression analyses suggested relationships between androsterone and androstanedione, as well as between androsterone and 17-OH allopregnanolone. These results indicate that multiple androgen biosynthesis pathways are operating in eumenorrheic females and PCOS patients. In PCOS patients, excessive androgens are produced primarily via the conventional pathways, while two alternative pathways; i.e., an androstanedione-mediated pathway and a so-called backdoor pathway, likely serve as sources of a weak androgen and potential precursors of DHT. © 2016 Elsevier Ltd. Source

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