Impact of video-assisted neonatal resuscitation on newborns and resuscitators: A feasibility study.

Aim: High-risk deliveries are still common due to the increased use of assisted reproductive technologies. In Japan, despite centralization of labor, about half of all deliveries are still carried out in obstetric clinics. Telemedicine support is important for neonatal resuscitation involving urgent, life-altering professional judgment in local deliveries.

Monitoring with wearable devices will clarify the association between indoor temperature and blood pressure.

The association of blood pressure and temperature is well known in seasonal observation, and low temperature in the winter season is often considered a cause of high blood pressure. The current evidence for short-term studies of temperature and blood pressure is based on the daily observation, however continuous monitoring with wearable devices will allow us to evaluate the rapid effect of cold temperature exposure on blood pressure. In a Japanese, prospective intervention study from 2014 to 2019 (the Smart Wellness Housing survey), approximately 90% of Japanese lived in cold houses (indoor temperature less than 18 °C).

Morning surge in sympathetic nervous activity in the indoor environment during the cold winter season.

We addressed to the sympathetic nervous activation of the same people in both their houses and a highly insulated and airtight model house (model house) during the cold winter season. Eight subjects (4 males and 4 females) stayed two nights at each house and were continuously monitored for sympathetic nerve system by calculating LF (low frequency)/HF (high frequency) in the analysis of heart rate variability using a wearable electrocardiography equipment. The room temperatures were kept constant at 20 °C or more in model house, but much lower in their houses.

Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening.

This report illustrates a case of central hypothyroidism in a newborn immediately after birth caused by maternal Graves' disease. Infants from mothers with Graves' disease require careful examination without waiting for neonatal screening results, even though the mother's thyroid function is normal at birth or the newborn does not have goiter.

Carbazole modification of ruthenium bipyridine-dicarboxylate oxygen evolution molecular catalysts.

We synthesized new oxygen-evolving molecular Ru(II) catalysts with one or two carbazole moieties on the axial pyridyl ligands, namely [Ru(bda)(cbz-py)(py)] and [Ru(bda)(cbz-py)] [C1 and C2; bdaH = 2,2'-bipyridyl-6,6'-dicarboxylic acid, py = pyridine, and cbz-py = 9-(pyridin-4-yl)-9-carbazole] to investigate the effect of cbz modification on the photophysical and catalytic properties of the well-known molecular catalyst [Ru(bda)(py)] (C0). The initial oxygen-evolving catalytic activities of C1 and C2 were higher than that of C0 in both a chemical reaction driven by the strong oxidant (NH)[Ce(NO)] (CAN = ceric ammonium nitrate) and photochemical oxidation using a [Ru(bpy)] (bpy = 2,2'-bipyridine) photosensitizer with NaSO as the sacrificial oxidant. The higher activities were ascribed to the electron-withdrawing cbz groups, which promoted the radical coupling reaction to form a Ru-O-O-Ru species.

In vitro functional analysis of four variants of human asparagine synthetase.

The loss-of-function variants of the human asparagine synthetase (ASNS) gene cause asparagine synthetase deficiency (ASNSD). Diagnosis of ASNSD requires genetic tests because a specific biochemical diagnostic for ASNSD is not available. There are a few reports describing the functional evaluation of ASNS variants.

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: functional analysis of five novel mutations.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases.

Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.

d-3-Hydroxy-n-butyrate dehydrogenase (BDH1; EC 1.1.1.

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the gene, which is characterized by non-(hypo)-ketotic hypoglycemia, lethargy, and hepatomegaly during acute infection and/or prolonged fasting. Clinical presentations are similar to fatty acid oxidation defects; however, diagnosis of mHS deficiency is difficult because of poor biochemical markers. We report the case of a 12-month-old Japanese boy with mHS deficiency who presented with a coma, and hepatomegaly, but no hypoglycemia after a febrile episode and poor oral intake.

A rare variant (p.G991A) identified in a patient with ketotic hypoglycemia.

We describe the case of a 4-year-old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the gene. To detect the underlying disease in this case, we performed a gene panel analysis covering 59 genes that are involved in fatty acid oxidation, ketone body metabolism and transport, and glycogen storage diseases.

Differential Metabolic Responses to Adipose Atrophy Associated with Cancer Cachexia and Caloric Restriction in Rats and the Effect of Rikkunshito in Cancer Cachexia.

Despite the similar phenotypes, including weight loss, reduction of food intake, and lower adiposity, associated with caloric restriction (CR) and cancer cachexia (CC), CC is a progressive wasting syndrome, while mild CR improves whole body metabolism. In the present study, we compared adipose metabolic changes in a novel rat model of CC, mild CR (70% of the food intake of control rats, which is similar to the food consumption of CC rats), and severe CR (30% of the food intake of controls). We show that CC and severe CR are associated with much smaller adipocytes with significantly lower mitochondrial DNA content; but, that mild CR is not.

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses. In addition to a previous 26-case series, four series of T2-deficient patients were recently reported from different regions.

Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons.

Alu elements occupy 10% of the human genome. However, although they contribute to genomic and transcriptomic diversity, their function is still not fully understood. We hypothesized that intronic Alu elements may contribute to alternative splicing.

Acute bacterial endophthalmitis after scleral buckling surgery with chandelier endoillumination.

Purpose: The non-contact wide-angle viewing system (WAVS) with chandelier endoillumination is being used more commonly during scleral buckling surgery for rhegmatogenous retinal detachments although its safety has not been established. We report our findings in a case of bacterial endophthalmitis that developed after scleral buckling surgery with WAVS and chandelier endoillumination.

Observations: A 42-year-old man underwent scleral buckling surgery for a rhegmatogenous retinal detachment in his right eye using a WAVS with chandelier endoillumination.

Reproducibility and differences in area of foveal avascular zone measured by three different optical coherence tomographic angiography instruments.

This study was performed to compare the area of the foveal avascular zone (FAZ-area) obtained by three optical coherence tomography angiography (OCTA) instruments. This was a cross-sectional, non-interventional study of twenty-seven healthy right eyes. The superficial and deep FAZ-area was measured manually with three OCTA instruments: Triton (Topcon), RS3000 (Nidek), and CIRRUS (Zeiss).

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents and siblings have had no apparent ketoacidotic episodes. Over 5 years (2008-2012), we investigated several patients that presented with severe ketoacidosis and identified a heterozygous OXCT1 mutation in four of these cases (Case1 p.

A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.

Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site of intron 2, and exon 3 skipping was identified by cDNA analysis using cycloheximide.

Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the gene.

Background: β-ketothiolase (T2, gene symbol ) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We encountered a patient (GK03) with T2 deficiency whose T2 mRNA level was <10% of the control, but in whom a previous routine cDNA analysis had failed to find any mutations. Genomic PCR-direct sequencing showed homozygosity for c.

Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.

Citrin deficiency, an inherited defect of the liver-type mitochondrial aspartate/glutamate carrier isoform (citrin), may cause impairment of glycolysis because of an increase in the cytosolic NADH/NAD ratio. We report a Japanese boy whose main complaint was recurrent hypoglycemic episodes. He was suspected as having citrin deficiency because of his peculiar preference for protein- and fat-rich food.

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3-hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine.

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.

Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene. A German T2‑deficient patient that developed a severe ketoacidotic episode at the age of 11 months, was revealed to be a compound heterozygote of a previously reported null mutation, c.472A>G (p.