Summary: The quality of prenatal diagnosis of fetal abnormalities has advanced with improved resolution of ultrasound imaging and cytogenetic/molecular analysis. In this article, we briefly review the history of diagnosing fetal abnormalities and the current status of prenatal diagnosis during the first trimester (up to the first 14 weeks’ gestation), focusing especially on fetal malformations and chromosomal abnormalities. As for detectable morphological abnormalities, roughly half of all major structural anomalies including those in the central nervous system, cardiovascular system and gastrointestinal system can be detected, if not definitely diagnosed. For screening of chromosomal abnormalities, especially for trisomy 21, ultrasound soft markers such as increased nuchal translucency, maternal serum markers and their combinations have been implemented. More recently, non-invasive prenatal testing, by analyzing cell-free DNA in maternal serum, is now available to detect chromosomal abnormalities with higher predictability. Although invasive chorionic villus sampling offers definite diagnosis for chromosomal abnormalities during the first trimester, non-invasive diagnostic techniques are patient-friendly and promising in the future perspectives on prenatal diagnosis for chromosomal abnormalities.

Summary: Neuromuscular electrical stimulation (NMES) is used to increase not only muscle strength but also whole-body metabolism. A hybrid training system (HTS) in which NMES is synchronized to voluntary exercise by an articular motion sensor may increase exercise load during aerobic walking exercise. We assessed the metabolic cost during walking exercise (5 minutes at 4 km/h and 5.6 km/h) on a treadmill simultaneously combined with HTS (HTSW) or without HTS (CON). We evaluated oxygen uptake ( VO^·₂) and heart rate (HR) during HTSW or CON on different days in fifteen subjects. The values ofVO^·₂ during HTSW at 4 km/h and 5.6 km/h were signifi cantly greater than those during CON (16.6 ± 1.85 ml/min/kg vs 15.3 ± 1.48 ml/min/kg; p < 0.05, 21.0 ± 2.17 ml/min/kg vs 19.4 ± 2.13 ml/min/kg; p < 0.01, respectively). The values of HR during HTSW at 4 km/h, 5.6 km/h were significantly greater than those during CON (106.7 ± 8.1 bpm vs 101.7 ± 10.3 bpm; p < 0.05, 126.5 ± 11.1 bpm vs 121.5 ± 12.5 bpm; p < 0.05, respectively). HTS added significantly to the exercise load by 8.3 ± 12.0% or 9.1 ± 9.9% during aerobic walking exercise at 4 km/h or 5.6 km/h, respectively. HTS might be useful for health promotion by increasing metabolic cost during aerobic walking exercise without increasing the perceived difficulty.

Summary: Background: Students at schools may need first aid due to illness or accident. Therefore, teachers at school should know first aid measures and be able to put them into practice. The aim of this study is to assess awareness regarding first aid training among primary school teachers.

Methods: Subjects were 150 primary school teachers from nine schools in the Udupi district of Karnataka. They were assessed by predesigned questionnaire proforma, after which each teacher was interviewed and responses were discussed separately in smaller groups.

Results: Of the subjects, 11.3% felt that first aid is important and 87.7% said that it is very important and wanted to learn first aid. About a third (30.2%) of the teachers knew some basic treatments for minor emergencies but they didn’t recognize such treatments were called first aid. Most of the subjects (69.8%) were unfamiliar with the expression “first aid”.

Conclusion: First aid training should be included in the teacher training curriculum, and such training should be updated regularly.

Summary: Objective: The main purpose was to clarify the optimal D-dimer cutoff level during pregnancy to exclude deep vein thrombosis (DVT) prior to Cesarean section. The secondary purpose was to determine whether D-dimer can predict severe postpartum hemorrhage (PPH) in Cesarean section patients.

Methods: Two hundred and seventy eight elective Cesarean section cases were enrolled. Clinical factors and blood parameters at 34-37 weeks of gestation were analyzed. To detect DVT, lower extremities veins were examined using color Doppler ultrasonography in cases with D-dimer level ≥ 1.5 μg/mL. In addition, postpartum blood loss amounts during Cesarean section were recorded.

Results: Five DVT cases occurred in 250 singleton pregnancies, and 2 DVT cases occurred in 28 twin pregnancies. The overall incidence of DVT was 2.5%. The D-dimer level was higher in DVT cases than in non-DVT cases (3.84±1.97 vs. 2.31±1.48 μg/mL, P<0.01). The optimal D-dimer cutoff level was 2.6 μg/mL with a negative predic tive value of 99.5%, and sensitivity of 85.7%. PPH during Cesarean section was positively correlated with D-dimer level in all pregnancies. However, this relationship disappeared after excluding twin pregnancies.

Conclusion: A D-dimer level < 2.6 μg/mL at 34-37 weeks of gestation has the potential to exclude DVT. D-dimer can be an independent predictor for severe PPH for all Cesarean section cases, including twin pregnancies.

Summary: Epileptic seizures are core symptoms in focal cortical dysplasia (FCD), a disease that often develops in infancy. Such seizures are refractory to conventional antiepileptic drugs (AED) and temporarily disappear in response to AED in only 17% of patients. Currently, surgical resection is an important option for the treatment of epileptic seizures in FCD. In 2015, Korean and Japanese groups independently reported that FCD is caused by somatic mosaic mutation of the MTOR gene in the brain tissue. Based on these results we decided to test a novel treatment using sirolimus, an mTOR inhibitor, for epileptic seizures in patients with FCD type II. A single arm open-label clinical trial for FCD type II patients is being conducted in order to evaluate the efficacy and safety of sirolimus. The dose of sirolimus is fixed for the first 4 weeks and dose adjustment is achieved to maintain a blood level of 5 to 15 ng/mL during 8 to 24 weeks after initiation of administration, and it is kept within this level during a maintenance therapy period of 12 weeks. Primary endpoint is a reduction in the rate of incidence of focal seizures (including focal to bilateral tonic-clonic seizures) per 28 days during the maintenance therapy period from the observation period. To evaluate the frequency of epileptic seizures, registry data will be used as an external control group. We hope that the results of this trial will lead to future innovative treatments for FCD type II patients.

Summary: Duchenne (DMD) and other forms of muscular dystrophy (MD) are collectively rare and affect approx imately 20 per 100,000 people. The on-going development of exon skipping and other novel therapies for DMD is expected to lead to improvements in motor function prognosis. However, improvements in motor dysfunction with these novel therapies are associated with the risk of increase in cardiac burden. Development of therapies to improve cardiac function, therefore, is an urgent issue. This single-arm, open-label, multicenter study will include 20 patients with MD aged 13 years or older. Tranilast, a transient receptor potential cation channel subfamily V member 2 (TRPV2) inhibitor, will be administered orally for a period of 28 weeks at a dose of 300 mg/day divided into three daily doses. If consent to continue administration is obtained at 28 weeks, the drug will be administered for an additional 116 weeks. The primary outcome will be the change in brain natriuretic peptide (BNP) at 6 months after the start of administration compared to baseline. Tranilast is an anti-allergy agent that was developed in Japan. It has been used in a large number of clinical cases, including pediatric cases, and has been shown to be safe. We expect this study to provide basic data for developing new treatment method in cardiomyopathy/skeletal myopathy using TRPV2 inhibitors. Moreover, such therapies may also be effective in treating general heart failure without MD. Therefore, if the effectiveness of TRPV2 inhibitors could be confirmed in this study, great social and economic benefits could be achieved.

Summary: A 38-year old immunocompetent male presented to us with chicken pox complicated by development of Guillain-Barre syndrome (GBS) and left-sided native valve endocarditis due to methicillin resistant Staphylococcus aureus (MRSA). This was further complicated by embolization to various vital organs including the brain. The patient was treated with vancomycin for four weeks but did not respond to the treatment. We present this case to highlight the rare complications associated with chicken pox and the challenges faced in management of such a case.

Summary: During a routine dissection of the infratemporal fossa and lateral face, a branch of the left lingual nerve was observed entering the medial pterygoid muscle. Normally, the nerve to the medial pterygoid is a direct branch from the mandibular nerve, with no communications with the lingual nerve. There are many reports involving variations of the mandibular nerve; however, few reports describe lingual nerve variations involving the medial pterygoid muscle. Reconstructive surgeries for cosmesis and trauma, tumor excision, and impacted third molar removal may all damage the lingual nerve and might, as seen in the present case, affect the medial pterygoid muscle. Given the presumed rarity of this variation, we discuss the possible embryological origins as well as the surgical conflicts that may arise with this type of variation.