Turbulence in the tropical stratosphere, equatorial Kelvin waves, and the quasi-biennial oscillation.

The tropical stratosphere is the gateway to the global stratosphere and a commonly proposed location for solar geoengineering. The dynamics of this remote and difficult to observe region are poorly understood, particularly at turbulent length scales. Existing observational estimates of turbulence frequency and strength vary widely.

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study.

Intronic variants in inborn errors of metabolism: Beyond the exome.

Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions to this assertion. With the increasing availability of next generation sequencing, variants in non-coding regions are often considered when no causative exonic changes have been identified.

Inborn errors of metabolism refuse to stay-at-home: Experiences of a state-wide biochemical genetics service during the COVID-19 pandemic.

Aim: The New South Wales (NSW) biochemical genetics (BG) service in Australia developed business continuity plans (BCPs) in response to the COVID-19 pandemic to ensure the essential service remained operational. This article aims to discuss the effects of the COVID-19 BCPs on the NSW BG service and patient care.

Methods: BCPs were developed that included charting of NSW BG service workflow and services against staff resources and clinical impact on patients.

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.

Background And Objective: Traditional targeted metabolomic investigations identify a pre-defined list of analytes in samples and have been widely used for decades in the diagnosis and monitoring of inborn errors of metabolism (IEMs). Recent technological advances have resulted in the development and maturation of untargeted metabolomics: a holistic, unbiased, analytical approach to detecting metabolic disturbances in human disease. We aim to provide a summary of untargeted metabolomics [focusing on tandem mass spectrometry (MS-MS)] and its application in the field of IEMs.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

3-Methylglutaconyl-CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3-methylglutaconate, with or without 3-hydroxyisovalerate and 3-methylglutarate. It is an ultra-rare condition, with <30 cases published in the literature. It is unclear whether the clinical features seen in reported patients are caused by the biochemical abnormalities, or whether they simply represent an ascertainment bias in patients that come to clinical attention.

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%-90% of the causative variants are identified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA) of the gene. A 23-year-old male with biochemical evidence of OTCD was referred for molecular analysis.

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.

Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical form in male infants causes vomiting and lethargy in the neonatal period; if untreated the severe hyperammonaemia can cause acute neurotoxic complications and permanent disability. OTCD may also occur in heterozygote female individuals, though the manifestations are variable.

Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.

Fatty acid receptors have been recognized as important players in glycaemic control. This study is the first to describe a role for the medium-chain fatty acid (MCFA) receptor G-protein-coupled receptor (Gpr) 84 in skeletal muscle mitochondrial function and insulin secretion. We are able to show that Gpr84 is highly expressed in skeletal muscle and adipose tissue.

Rayleigh-Mie Doppler wind lidar for atmospheric measurements. II. Mie scattering effect, theory, and calibration.

A theoretical and experimental study is conducted for the direct-detection Doppler Lidar developed by the Service d'Aéronomie du Centre National de la Recherche Scientifique. Thanks to a specific design, the double-edge technique that applies primarily to Rayleigh scattering can also be employed in presence of aerosols backscatter. We focus on a careful estimate of the particle-induced error on the wind measurements.

Rayleigh-Mie Doppler wind lidar for atmospheric measurements. I. Instrumental setup, validation, and first climatological results.

Since 1989 Service d'Aéronomie du Centre National de la Recherche Scientifique has used an incoherent Doppler lidar technique for wind measurements in the atmosphere. A new-generation Rayleigh-Mie Doppler lidar has been designed and is currently operated at the Observatoire de Haute Provence (France). We give a detailed description of this instrument and highlight two important upgrades leading to quasi-simultaneous and absolute measurements of the wind from approximately 8 to 50 km altitude.

Collective migration of an epithelial monolayer in response to a model wound.

Using an original microfabrication-based technique, we experimentally study situations in which a virgin surface is presented to a confluent epithelium with no damage made to the cells. Although inspired by wound-healing experiments, the situation is markedly different from classical scratch wounding because it focuses on the influence of the free surface and uncouples it from the other possible contributions such as cell damage and/or permeabilization. Dealing with Madin-Darby canine kidney cells on various surfaces, we found that a sudden release of the available surface is sufficient to trigger collective motility.

Friedreich ataxia: the oxidative stress paradox.

Friedreich ataxia (FRDA) results from a generalized deficiency of mitochondrial and cytosolic iron-sulfur protein activity initially ascribed to mitochondrial iron overload. Recent in vitro data suggest that frataxin is necessary for iron incorporation in Fe-S cluster (ISC) and heme biosynthesis. In addition, several reports suggest that continuous oxidative damage resulting from hampered superoxide dismutases (SODs) signaling participates in the mitochondrial deficiency and ultimately the neuronal and cardiac cell death.

Wind-velocity lidar measurements by use of a Mach-Zehnder interferometer, comparison with a Fabry-Perot interferometer.

We present the first wind-velocity profiles obtained with a direct-detection Doppler lidar that uses a Mach-Zehnder interferometer (MZI) as spectral discriminator. The measurements were performed in the lower stratosphere, between 10 and 40 km in altitude, at the Observatoire de Haute Provence (OHP), France, during nighttime. They are in excellent agreement with those obtained simultaneously and independently with the already validated double Fabry-Perot interferometer (FPI) of the OHP Doppler lidar (mean difference lower than the combined standard deviation).