Infantile cortical hyperostosis and COL1A1 mutation in four generations

Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability

Application of CO 2 carbon stable isotope analysis to ant trophic ecology

Stable isotope analysis of animal tissues is commonly used to infer diet and trophic position. However, it requires destructive sampling. The analysis of carbon isotopes from exhaled CO2 is non-invasive and can provide useful ecological information because isotopic CO2 signatures can reflect the diet and metabolism of an animal. However, this methodology has rarely been used on invertebrates and never on social insects. Here, we first tested whether this method reflects differences in δ13C-CO2 between workers of the Mediterranean ant Crematogaster scutellaris (Olivier) (Hymenoptera: Formicidae, Crematogastrini) fed with sugar from beet (C3; Beta vulgaris L., Amaranthaceae) or cane (C4; Saccharum officinarum L., Poaceae). We found that a significant difference can be obtained after 24 h. Consequently, we used this technique on wild co-occurring ant species with different feeding preferences to assess their reliance on C3 or C4 sources. For this purpose, we sampled workers of C. scutellaris, the invasive garden ant Lasius neglectus (van Loon et al.) (Lasiini), and the harvester ant Messor capitatus (Latreille) (Stenammini). No significant differences in their carbon isotopic signatures were recorded, suggesting that in our study site no niche partitioning occurs based on the carbon pathway, with all species sharing similar resources. However, further analysis revealed that M. capitatus, a seed-eating ant, can be regarded as a C3 specialist, whereas L. neglectus and C. scutellaris are generalists that rely on both C3 and C4 pathways, though with a preference for the former. Our results show that this methodology can be applied even to small animals such as ants and can provide useful information on the diets of generalist omnivores.info:eu-repo/semantics/publishedVersio

The MURALES survey. VI. Properties and origin of the extended line emission structures in radio galaxies

This is the sixth paper presenting the results of the MUse RAdio Loud Emission line Snapshot survey (MURALES). We observed 37 radio sources from the 3C sample with z<0.3 and declination <20 degrees with the MUSE optical integral field spectrograph at the VLT. We here focus on the properties of the extended emission line regions (EELRs) that can be studied with unprecedented detail thanks to the depth of these observations. Line emission in the 10 FRIs is, in most cases, confined to within 4 kpc) ionized gas is seen in all but two of the 26 FRIIs. It usually takes the form of elongated or filamentary structures, typically extending between 10 and 30 kpc, but also reaching distances of ~80 kpc. We find that 1) the large-scale ionized gas structures show a tendency to be oriented at large angles from the radio axis, and 2) the gas on a scale of a few kpc from the nucleus often shows ordered rotation with a kinematical axis forming a median angle of 65 degrees with the radio axis. We also discuss the velocity field and ionization properties of the EELRs. The observed emission line structures appear to be associated with gaseous "superdisks" formed after a gas rich merger. The different properties of the EELR can be explained with a combination of the source evolutionary state and the orientation of the "superdisk" with respect to the radio axis. The general alignment between the superdisks and radio axis might be produced by stable and coherent accretion maintained over long timescales.Comment: Pre-proofs version - Accepted for publication in A&

Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?

CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention. CASE PRESENTATION: After a 6-month period of occupational exposure to n-hexane and other organic solvents, a 27-year-old man (a moderate smoker) developed an optic neuropathy. The patient had a full ophthalmologic and neurologic investigation, including standardized cycloergometer test for serum lactic acid levels and a skeletal muscle biopsy. His exposure history was also detailed, and he underwent genetic testing for LHON mitochondrial DNA mutations. The patient suffered a sequential optic neuropathy with the hallmarks of LHON and tested positive for the homoplasmic 11778G → A/ND4 mutation. Routine laboratory monitoring revealed increased concentrations of urinary 2.5 hexandione (n-hexane metabolite) and hippuric acid (toluene metabolite) in the period immediately preceding the visual loss. DISCUSSION: In a subject carrying an LHON mutation, the strict temporal sequence of prolonged appreciable occupational exposure followed by sudden onset of visual loss must raise a suspicion of causality (with a possible further interaction with tobacco smoke). RELEVANCE: In this article, we add to the candidate occupational/environmental triggers of LHON and highlight the need for appropriate case–control (and laboratory) studies to validate the causal effect of mixed toxic exposures

The MURALES survey. IV. Searching for nuclear outflows in 3C radio galaxies at z < 0.3 with MUSE observations

We analyze VLT/MUSE observations of 37 radio galaxies from the Third Cambridge catalogue (3C) with redshift $<$0.3 searching for nuclear outflows of ionized gas. These observations are part of the MURALES project (a MUse RAdio Loud Emission line Snapshot survey), whose main goal is to explore the feedback process in the most powerful radio-loud AGN. We applied a nonparametric analysis to the [O~III] $\lambda$5007 emission line, whose asymmetries and high-velocity wings reveal signatures of outflows. We find evidence of nuclear outflows in 21 sources, with velocities between $\sim$400 - 1000 km s$^{-1}$, outflowing masses of $\sim 10^5-10^7$ M$_\odot$, and a kinetic energy in the range $\sim 10^{53} - 10^{56}$ erg. In addition, evidence for extended outflows is found in the 2D gas velocity maps of 13 sources of the subclasses of high-excitation (HEG) and broad-line (BLO) radio galaxies, with sizes between 0.4 and 20 kpc. We estimate a mass outflow rate in the range 0.4 - 30 M$_\odot$ yr$^{-1}$ and an energy deposition rate of ${\dot E}_{kin} \sim 10^{42}-10^{45}$ erg s$^{-1}$. Comparing the jet power, the nuclear luminosity of the active galactic nucleus, and the outflow kinetic energy rate, we find that outflows of HEGs and BLOs are likely radiatively powered, while jets likely only play a dominant role in galaxies with low excitation. The low loading factors we measured suggest that these outflows are driven by momentum and not by energy. Based on the gas masses, velocities, and energetics involved, we conclude that the observed ionized outflows have a limited effect on the gas content or the star formation in the host. In order to obtain a complete view of the feedback process, observations exploring the complex multiphase structure of outflows are required.Comment: 40 pages; accepted for publication on A&A

Current and emerging treatments for the management of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it ischaracterized by bone brittleness and various degrees of growth disorder. Clinical severityvaries widely; nowadays eight types are distinguished and two new forms have been recentlydescribed although not yet classified. The approach to such a variable and heterogeneousdisease should be global and therefore multidisciplinary. For simplicity, the objectives oftreatment can be reduced to three typical situations: the lethal perinatal form (type II), inwhich the problem is survival at birth; the severe and moderate forms (types III–IX), in whichthe objective is ‘autonomy’; and the mild form (type I), in which the aim is to reach ‘normallife’. Three types of treatment are available: non-surgical management (physical therapy,rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning,spinal and basilar impression surgery) and medical-pharmacological management (drugs toincrease the strength of bone and decrease the number of fractures as bisphosphonates or growthhormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approachare indicated and updated with the most recent findings in OI diagnosis and treatment