Selective coronary arteriography via transradial access in young children.

Background: Transradial access (TRA) is not a common vascular access in children. We have been performing TRA actively to reduce puncture complications, and the purpose of this study was to investigate the safety and efficacy of TRA in young children.

Methods: The study included 29 patients aged 5-12 years who underwent diagnostic catheterization at Kurume University Hospital.

[Successful immunosuppressive therapy in female hemophilia A developing inhibitor after perioperative administration of factor VIII products].

A 62-year-old woman was diagnosed as a hemophilia A carrier (factor VIII activity 35%) on preoperative examination of an ovarian tumor. A total of 35,600 units of recombinant factor VIII products was administered perioperatively. On postoperative day 95, a subcutaneous hematoma formed and immunosuppressive therapy with prednisolone was started based on an APTT of 66 seconds, factor VIII (FVIII) activity of 3%, and FVIII inhibitor of 1 BU/ml.

The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect.

LSD1 defines the fiber type-selective responsiveness to environmental stress in skeletal muscle.

Skeletal muscle exhibits remarkable plasticity in response to environmental cues, with stress-dependent effects on the fast-twitch and slow-twitch fibers. Although stress-induced gene expression underlies environmental adaptation, it is unclear how transcriptional and epigenetic factors regulate fiber type-specific responses in the muscle. Here, we show that flavin-dependent lysine-specific demethylase-1 (LSD1) differentially controls responses to glucocorticoid and exercise in postnatal skeletal muscle.

Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome.

Purpose: We describe the ocular findings in a patient with Alagille syndrome, included those obtained with ultra-widefield and anterior-segment optical coherence tomography (AS-OCT) imaging.

Observations: A previously asymptomatic 29-year-old woman with a heterozygous pathogenic variant in the gene was referred for an ophthalmic evaluation. The ocular abnormalities included bilateral posterior embryotoxon, iris atrophy, retinal pigmentary changes in the peripheral and peripapillary regions, and optic disc elevation.

Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disorder caused by mutation in the autoimmune regulator (AIRE) gene. Patients usually are diagnosed at ages between 5 and 15 years when they show 3 or more manifestations, most typically mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. APECED-associated hepatitis (APAH) develops in only 10% to 40% of patients, with severity varying from subclinical chronic active hepatitis to potentially fatal acute liver failure (ALF).

LSD1 defines erythroleukemia metabolism by controlling the lineage-specific transcription factors GATA1 and C/EBPα.

Acute myeloid leukemia (AML) is a heterogenous malignancy characterized by distinct lineage subtypes and various genetic/epigenetic alterations. As with other neoplasms, AML cells have well-known aerobic glycolysis, but metabolic variations depending on cellular lineages also exist. Lysine-specific demethylase-1 (LSD1) has been reported to be crucial for human leukemogenesis, which is currently one of the emerging therapeutic targets.

Intracardiac Echocardiography as a Guide for Transcatheter Closure of Patent Ductus Arteriosus.

Background: Transcatheter closure of patent ductus arteriosus (TC-PDA), conventionally guided by aortography, has become the standard treatment of this disease. The purposes of this study were to evaluate whether intracardiac echocardiography (ICE) may be used for measuring PDA size and be used as a guide for TC-PDA.

Methods: This study had 2 phases.

Lysine-specific demethylase-2 is distinctively involved in brown and beige adipogenic differentiation.

Transcriptional and epigenetic regulation is fundamentally involved in initiating and maintaining progression of cellular differentiation. The 2 types of thermogenic adipocytes, brown and beige, are thought to be of different origins but share functionally similar phenotypes. Here, we report that lysine-specific demethylase 2 (LSD2) regulates the expression of genes associated with lineage identity during the differentiation of brown and beige adipogenic progenitors in mice.

LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation.

The metabolic properties of cells are formed under the influence of environmental factors such as nutrients and hormones. Although such a metabolic program is likely initiated through epigenetic mechanisms, the direct links between metabolic cues and activities of chromatin modifiers remain largely unknown. In this study, we show that lysine-specific demethylase-1 (LSD1) controls the metabolic program in myogenic differentiation, under the action of catabolic hormone, glucocorticoids.

Maternal undernutrition during early pregnancy inhibits postnatal growth of the tibia in the female offspring of rats by alteration of chondrogenesis.

Epidemiological research has suggested that birth weights are correlated with adult leg lengths. However, the relationship between prenatal undernutrition (UN) and postnatal leg growth remains controversial. We investigated the effects of UN during early pregnancy on postnatal hindlimb growth and determined whether early embryonic malnutrition affects the functions of postnatal chondrocytes in rats.

Lysine Demethylase LSD1 Coordinates Glycolytic and Mitochondrial Metabolism in Hepatocellular Carcinoma Cells.

The hallmark of most cancer cells is the metabolic shift from mitochondrial to glycolytic metabolism for adapting to the surrounding environment. Although epigenetic modification is intimately linked to cancer, the molecular mechanism, by which epigenetic factors regulate cancer metabolism, is poorly understood. Here, we show that lysine-specific demethylase-1 (LSD1, KDM1A) has an essential role in maintaining the metabolic shift in human hepatocellular carcinoma cells.

Lysine-specific demethylase 2 suppresses lipid influx and metabolism in hepatic cells.

Cells link environmental fluctuations, such as nutrition, to metabolic remodeling. Epigenetic factors are thought to be involved in such cellular processes, but the molecular basis remains unclear. Here we report that the lysine-specific demethylase 2 (LSD2) suppresses the flux and metabolism of lipids to maintain the energy balance in hepatic cells.

The calming effect of a maternal breast milk odor on the human newborn infant.

We examined the effects of the odors from mother's milk, other mother's milk and formula milk on pain responses in newborns undergoing routine heelsticks. Forty-eight healthy infants were assigned to four groups, an own mother's breast milk odor group (Own MM), another mother's breast milk odor group (Other MM), a formula milk odor group (Formula M) and a control group. To assess infant distress in response to the heelsticks, their crying, grimacing and motor activities were recorded during the experiment as behavioral indices of the pain response.