Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.

Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta in an infant with symptomatic hydrocephalus treated with ventriculosubgaleal shunt placement.

Plastic pollution in the surface water in Jakarta, Indonesia.

Plastic pollution in the ocean primarily originates from the land-derived mismanaged plastic waste that is transported by rivers. This study aimed to estimate the plastic litter generation in the surface water in Jakarta and Indonesia. A field survey was conducted at six riverine sampling points (upstream to downstream) and three holding facilities of the litter in Jakarta during the rainy season.

Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.

Context: Children born small-for-gestational-age with short stature (SGA-SS) is associated with (epi)genetic defects, including imprinting disorders (IDs), pathogenic copy number variants (PCNVs), and pathogenic variants of genes involved in growth. However, comprehensive studies evaluating these 3 factors are very limited.

Objective: To clarify the contribution of PCNVs and candidate pathogenic variants to SGA-SS.

Extraction of bioavailable phosphorus in soils and sediments using an ultrasonic washing machine.

For improving the management of watershed eutrophication, methods for measuring bioavailable phosphorus (BAP) are more important than measurements of total phosphorus (TP). BAP in particulate form (P-BAP) is an important substance that promotes eutrophication, especially during rainy seasons. Only a portion of particulate phosphorus (PP) is taken up by algae that contribute to eutrophication.

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.

SHORT syndrome is a rare developmental disorder frequently associated with growth failure and insulin resistant diabetes mellitus (IRDM). Since GH has a diabetogenic effect, GH therapy has been regarded as a contraindication. We observed a Brazilian girl with SHORT syndrome who received GH therapy from 4 6/12 years of age for SGA short stature.

Loss of imprinting of the human-specific imprinted gene causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.

Background: , encoding a zinc-finger protein, is the human-specific maternally expressed imprinted gene located on 16p13.3. The parent-of-origin expression of is regulated by the :TSS-DMR, of which only the paternal allele acquires methylation during postimplantation period.

IGF2 Mutations.

Objective: IGF2 is a paternally expressed growth-promoting gene. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive patients described in the literature. We also compare clinical features between patients with IGF2 mutations and those with H19/IGF2:IG-DMR epimutations.

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.

Background: Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features.

Objective: To clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS phenotype and phenotypic differences between UPD(16)mat and SRS.

Carapanosins D-F from the Seeds of Andiroba (, Meliaceae) and Their Effects on LPS-Activated NO Production.

A novel -phragmalin-type limonoid, named carapanosin D (), and two novel mexicanolide-type limonoids, carapanosins E (2) and F (), were isolated from the seed oil of andiroba A), a traditional medicine in Brazil and Latin American countries. Their structures were unambiguously determined on the basis of spectroscopic analyses using one-dimensional (1D) and two-dimensional (2D) NMR techniques and High resolution Fast Atom Bombardment Mass Spectrometry (HRFABMS). Compounds ⁻ were evaluated for their effects on the production of nitric oxide (NO) in Lipopolysaccharide (LPS)-activated mouse peritoneal macrophages.

Spatial and temporal variation of water quality of a segment of Marikina River using multivariate statistical methods.

Payatas landfill in Quezon City, Philippines, releases leachate to the Marikina River through a creek. Multivariate statistical techniques were applied to study temporal and spatial variations in water quality of a segment of the Marikina River. The data set included 12 physico-chemical parameters for five monitoring stations over a year.

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

Background: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the -differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs.

A novel C-terminal truncating mutation in dizygotic twins.

Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development.

Hemoglobin phase of oxygenation and deoxygenation in early brain development measured using fNIRS.

A crucial issue in neonatal medicine is the impact of preterm birth on the developmental trajectory of the brain. Although a growing number of studies have shown alterations in the structure and function of the brain in preterm-born infants, we propose a method to detect subtle differences in neurovascular and metabolic functions in neonates and infants. Functional near-infrared spectroscopy (fNIRS) was used to obtain time-averaged phase differences between spontaneous low-frequency (less than 0.

Generation of a transgenic medaka (Oryzias latipes) strain for visualization of nuclear dynamics in early developmental stages.

In this study, we verified nuclear transport activity of an artificial nuclear localization signal (aNLS) in medaka fish (Oryzias latipes). We generated a transgenic medaka strain expresses the aNLS tagged enhanced green fluorescent protein (EGFP) driven by a medaka beta-actin promoter. The aNLS-EGFP was accumulated in the nuclei of somatic tissues and yolk nuclei of oocytes, but undetectable in the spermatozoa.

Measuring total mercury due to small-scale gold mining activities to determine community vulnerability in Cihonje, Central Java, Indonesia.

This research is comparative study of gold mining and non-gold mining areas, using four community vulnerability indicators. Vulnerability indicators are exposure degree, contamination rate, chronic, and acute toxicity. Each indicator used different samples, such as wastewater from gold mining process, river water from Tajum river, human hair samples, and health questionnaire.

Human health risk assessment of mercury vapor around artisanal small-scale gold mining area, Palu city, Central Sulawesi, Indonesia.

Emissions of elemental mercury, Hg(0), from artisanal small-scale gold mining activities accounted for 37% of total global Hg(0) emissions in 2010. People who live near gold-mining areas may be exposed to high concentrations of Hg(0). Here, we assessed the human health risk due to Hg(0) exposure among residents of Palu city (Central Sulawesi Province, Indonesia).