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Abstract Background Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene; however, few case reports have been published on it. In this report, we describe a case of triplicate fetal congenital heart disease that was diagnosed as a PDL1 mutation. Our objective is to explore the clinical manifestations of PLD1 mutations in this particular case. Case presentation A 32-year-old Japanese woman (gravida, para 0) was introduced since fetus four chamber view was not clear and was diagnosed with ductus arteriosus-dependent left ventricular single ventricle and pulmonary atresia at 21 weeks and 1 day of gestation during her first pregnancy. Artificial abortion using Gemeprost was performed at 21 weeks and 5 days of gestation. The second pregnancy was diagnosed as pulmonary atresia with intact ventricular septum with cardiomegaly, a cardiothoracic area ratio of more than 35%, and a circulatory shunt at 13 weeks and 3 days of gestation. Subsequently, intrauterine fetal death was confirmed at 14 weeks and 3 days of gestation. Regarding the third pregnancy, fetal ultrasonography at 11 weeks and 5 days of gestation showed mild fetal hydrops and moderate tricuspid valve regurgitation. At 16 weeks and 5 days of gestation, the fetus was suspected to have a left ventricular-type single ventricle, trace right ventricle, pulmonary atresia with intact ventricular septum, or cardiomyopathy. Cardiac function gradually declined at 26 weeks of gestation, and intrauterine fetal death was confirmed at 27 weeks and 5 days of gestation. The fourth pregnancy resulted in a normal heart with good progression and no abnormal baby. We submitted the first and second fetuses’ umbilical cord, third fetus’ placenta, and the fourth fetus’ blood to genetic testing using whole exome analysis with next generation sequencing. Genetic analysis identified hemizygous PLD1 mutations in the first, second, and third fetuses. The fourth fetus was heterozygous. In addition, the parents were heterozygous for PLD1. This case is based on three consecutive cases of homozygosity for the PLD1 gene in the sibling cases and the fetuses with recurrent right ventricular valve dysplasia. This will elucidate the cause of recurrent congenital heart disease and intrauterine fetal death and may serve as an indicator for screening the next fetus. To date, homozygous mutations in PLD1 that repeat three times in a row are not reported, only up to two times. The novelty of this report is that it was repeated three times, followed by a heterozygous live birth. Conclusions This report is consistent with previous reports that mutations in PLD1 cause right ventricular valve dysplasia. However, there have been few case reports of PLD1 mutations, and we hope that this report will contribute to elucidate the causes of congenital heart disease, especially right ventricular valve dysplasia, and that the accumulation of such information will provide more detailed information on PLD1 mutations in heart disease.

Objectives To evaluate the prescription and discontinuation of psychotropic drugs (PD) and drugs with anticholinergic properties (DAP) in residents with dementia admitted to Roken, a major type of long-term care facility in Japan.Design Cohort study.Setting A nationwide questionnaire survey across 3598 Roken in Japan in 2015 (up to five randomly selected residents per facility).Participants This study included 1201 residents from 343 Roken (response rate: 10%). We determined the presence and severity of dementia using a nationally standardised measure.Primary and secondary outcome measures Prescriptions of PD and DAP at admission and 2 months after admission were evaluated. Multivariable logistic regression was used to evaluate the associations of residents’ baseline characteristics with prescriptions or discontinuation.Results Prescription rates decreased for antidementia drugs (19.4% to 13.0%), hypnotics (25.1% to 22.6%) and anxiolytics (12.3% to 10.7%), whereas those for other PD, such as antipsychotics (13.2% to 13.6%), antidepressants (7.4% to 6.7%), antiepileptic drugs (7.1% to 7.8%) and DAP (35.2% to 36.6%) did not statistically significantly decrease. Some factors were associated with the prescriptions, for example, for antipsychotics, older age (≥85 years) (adjusted OR (aOR), 0.60; 95% CI 0.43 to 0.85) and being bedridden (aOR 0.67; 95% CI 0.47 to 0.97) were associated with a lower use of antipsychotics, whereas severe dementia was associated with a higher use of antipsychotics (aOR 3.26; 95% CI 2.26 to 4.70). At an individual level, a quarter of residents prescribed PD or DAP at admission had discontinued at least one PD or DAP, respectively, 2 months after admission. Antidementia drug use in severe dementia (aOR 1.86; 95% CI 1.04 to 3.31) and PD use in older age (aOR 1.61; 95% CI 1.00 to 2.60; in residents with disabling dementia) were associated with discontinuation.Conclusions There is possible scope for deprescribing PD and DAP in Roken residents with dementia to mitigate the risks of adverse events.

Cesarean section (CS), the rate of which is increasing worldwide, may be associated with complications. Although pelvic abscess after CS is rare, it is difficult to treat. We herein report two cases of pelvic abscess treated laparoscopically after CS. The abscesses of the patients were located in the pouch of Douglas and the uterine scar after CS, respectively. Several days after CS, the patients presented with lower abdominal pain and fever. Laparoscopic drainage was performed because imaging revealed a pelvic abscess that was not amenable to drainage through interventional radiology. The patients recovered from infection and were discharged four days after drainage.

Abstract Background It is well known that ovarian mature cystic teratomas (MCTs) occasionally go through malignant transformations. Among these, approximately 75% of histological types are squamous cell carcinoma, with the other types being exceptionally rare. We report an extremely rare case of ovarian clear cell carcinoma arising from ovarian mature cystic teratoma. Case presentation The case was a 71-year-old woman with abdominal distention. Ultrasonography and magnetic resonance imaging showed a huge mass in her abdominal cavity. Fluorodeoxyglucose-positron emission tomography (FDG-PET) showed FDG uptake not only in the pelvic tumor but also in the hepatic nodule, thus suggesting metastases. We performed a total abdominal hysterectomy, bilateral salpingo-oophorectomy, and an omentectomy. The pathological diagnosis showed clear cell carcinoma of the right ovary which arose from the MCT with malignant transformation pT2aNXM1. Although the patient underwent chemotherapy, she died after 17 months. Conclusion This case is histologically characteristic of the proof of transition from simple squamous epithelium via simple glandular epithelium to papillary change with atypia. This is the first case report of unaccompanied clear cell carcinoma arising from MCT reported in English literatures.

Objective: Some patients who have undergone radical trachelectomy require in vitro fertilization-embryo transfer. We examine the reproductive problems in patients with cervical cancer after radical abdominal trachelectomy. Methods: A retrospective single-center study of the fertility treatment for the cervical cancer patients who received radical abdominal trachelectomy was performed in 17 cases. One patient had stage IA1 disease with lymph-vascular involvement, 4 had stage IA2 disease, and 12 had stage IB1 disease. Histologically, there were 9 squamous cell carcinomas and 8 adenocarcinomas. Six patients received adjuvant chemotherapy. No deaths due to disease were observed. Results: The median age and length of follow-up were 36 years old and 71 months, respectively. Among the 12 patients desirous of pregnancy, 9 received in vitro fertilization (IVF), and 8 pregnancies were confirmed in 6 patients. Seven patients had cervical stenosis, and 4 of them needed transmyometrial embryo transfer. Two cases showed spontaneous abortion in the first trimester, and five resulted in births. The remaining case is in her 17th gestational week with no abnormal findings. One case had a fetomaternal transfusion syndrome, and another had partial placenta previa and preterm premature rupture of the membranes. Conclusions: In this small series of cases, the pregnancy rate after radical abdominal trachelectomy was 50%; most patients received transmyometrial embryo transfer was used for cervical stenosis. [ABSTRACT FROM AUTHOR]