Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family

Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. Aim. To identify the incidence of these clinical findings in the report of the literature by means of PubMed interface from 2002 to 2015, with the related keywords. The report of local patients presents a clinical example, related to the therapeutic approach. Results and Discussions. The PubMed research resulted in 122 articles. All the typical signs were reported in all presented cases. The maxilla was hypoplastic in 94% of the patients. Missing of permanent teeth was found in two cases: one case presented a class II jaw relationship, instead of class III malocclusion. Similar findings were present in our cohort. Conclusion. CCD is challenging for both the dental team and the patient. The treatment requires a multidisciplinary approach. Further studies are required to better understand the cause of this disease. According to this review, a multistep approach enhances the possibilities to achieve the recovery of the most possible number of teeth, as such to obtain a good occlusion and a better aesthetic

Refining the M_BH-V_c scaling relation with HI rotation curves of water megamaser galaxies

Black hole - galaxy scaling relations provide information about the coevolution of supermassive black holes and their host galaxies. We compare the black hole mass - circular velocity (MBH - Vc) relation with the black hole mass - bulge stellar velocity dispersion (MBH - sigma) relation, to see whether the scaling relations can passively emerge from a large number of mergers, or require a physical mechanism, such as feedback from an active nucleus. We present VLA H I observations of five galaxies, including three water megamaser galaxies, to measure the circular velocity. Using twenty-two galaxies with dynamical MBH measurements and Vc measurements extending to large radius, our best-fit MBH - Vc relation, log MBH = alpha + beta log(Vc /200 km s^-1), yields alpha = 7.43+/-0.13, beta = 3.68+1.23/-1.20, and intrinsic scatter epsilon_int = 0.51+0.11/-0.09. The intrinsic scatter may well be higher than 0.51, as we take great care to ascribe conservatively large observational errors. We find comparable scatter in the MBH - sigma relations, epsilon_int = 0.48+0.10/-0.08, while pure merging scenarios would likely result in a tighter scaling with the dark halo (as traced by Vc) than baryonic (sigma) properties. Instead, feedback from the active nucleus may act on bulge scales to tighten the MBH - sigma relation with respect to the MBH - Vc relation, as observed.Comment: 27 pages, 15 figures, ApJ accepte

Multiple dental inclusion in monozygotic twins with congenital visual impairment

The study presents two monozygotic twins (MZ) with multiple impacted teeth, affecting the upper canines and lower second molars, as well as congenital aniridia. The clinical aspect of the upper canines is peculiar because of the different positions - palatal in one and buccal in the other twin. Studies reporting different scenarios of impaction in monozygotic twins can contribute more data to the debate on tooth eruption aetiology and more so in this case because of the association with a genetic panocular disease. Patients' Concerns. The patients were referred by a general dentist, who diagnosed the presence of multiple inclusions. Diagnostic Study. Both patients showed severe malocclusion, classified as grade 5 of the Index of Orthodontic Treatment Need (IOTN). The MZ showed class I malocclusion, upper and lower crowding, and impacted lower right and left second molars. A Dentascan was prescribed for the canine impaction. The impaction of the upper canine was palatal of 2.3 in one of the MZ and buccal of 1.3 in the other one. The same altered pattern of eruption of the lower second molars was identified in both twins. The proposed treatment plan contemplated orthodontic surgical recovery of the impacted elements, followed by orthodontic treatment with multibracket appliance after the extraction of the first four premolars, given the crowding entity. The use of a retraction spring action was chosen for the recovery of the lower second molars. Many aspects of the possible genetic aetiology of tooth impaction are still under discussion. The study of diseases in twins offers decisive information. Finally, the possibility that alterations in the eruptive pattern of the dental elements may be associated with other congenital problems broadens the range of investigations related to the possible aetiological causes of the inclusions in humans

Water vapour at high redshift: Arecibo monitoring of the megamaser in MG J0414+0534

The study of water masers at cosmological distances would allow us to investigate the parsec-scale environment around powerful radio sources, to probe the physical conditions of the molecular gas in the inner parsecs of quasars, and to estimate their nuclear engine masses in the early universe. To derive this information, the nature of the maser source, jet or disk-maser, needs to be assessed through a detailed investigation of the observational characteristics of the line emission. We monitored the maser line in the lensed quasar MGJ0414+0534 at z = 2.64 with the 300-m Arecibo telescope for ~15 months to detect possible additional maser components and to measure a potential velocity drift of the lines. In addition, we follow the maser and continuum emissions to reveal significant variations in their flux density and to determine correlation or time-lag, if any, between them. The main maser line profile is complex and can be resolved into a number of broad features with line widths of 30-160 km/s. A new maser component was tentatively detected in October 2008 that is redshifted by 470 km/s w.r.t the systemic velocity of the quasar. The line width of the main maser feature increased by a factor of two between the Effelsberg and EVLA observations reported by Impellizzeri et al. (2008) and the first epoch of the Arecibo monitoring campaign. After correcting for the lens magnification, we find that the total H2O isotropic luminosity of the maser in MGJ0414+0534 is now ~30,000 Lsun, making this source the most luminous ever discovered.[Abridged]Comment: 8 pages, 6 figures, accepted for publication in A&

Correlation between generalised joint hypermobility and temporomandibular joint disc displacement in adolescent patients: Magnetic Resonance Imaging study

Aim: Temporomandibular disorders (TMD), in particular disc displacement, are recognised to have a multifactorial aetiology. Ligamentous laxity has been suggested as a potential risk factor for TMD. Ligamentous laxity can lead to generalised joint hypermobility (GJH) involving multiple joints, including the temporomandibular joint (TMJ). The aim of this work is to evaluate the correlation between GJH and disc displacement (DD) assessed on magnetic resonance images (MRI) of the TMJ in adolescent patients. Materials: The study was included 40 adolescent patients (10-16 years), divided into two groups, a Study Group (SG), composed of 20 subjects with GJH, and a Control Group (CG), composed of 20 subjects without GJH. The GJH was assessed by the Beighton test with a threshold value of ≥ 4. The severity of the TMD was determined using the Fonseca Questionnaire and a clinical evaluation of the type of TMD. The condylar-discal relationship and the condylar mobility of the TMJ were evaluated by MRI. Pearson's χ2 Test was performed for the analysis of the statistical correlation. Conclusion: This study suggests that adolescents with GJH have a greater risk of developing TMJ disc displacement, especially disc displacement without reduction

Radio continuum of galaxies with H2_{2}O megamaser disks: 33 GHz VLA data

We investigate the nuclear environment of galaxies with observed 22 GHz water megamaser in their subparsec edge-on accretion disks, using 33 GHz (9mm) radio continuum data from VLA, with a resolution of ~ 0.2-0.5 arcsecs, and relate the maser and host galaxy properties to those of its radio continuum emission. Eighty-seven percent (21 out of 24) galaxies in our sample show 33 GHz radio continuum emission at levels of 4.5-240 $\sigma$. Five sources show extended emission, including one source with two main components and one with three main components. The remaining detected 16 sources exhibit compact cores within the sensitivity limits. Little evidence is found for extended jets (>300 pc) in most sources. Either they do not exist, or our chosen frequency of 33 GHz is too high for a detection of these supposedly steep spectrum features. In only one source among those with known maser disk orientation, NGC4388, we found an extended jet-like feature that appears to be oriented perpendicular to the water megamaser disk. Smaller 100-300 pc sized jets might also be present, as is suggested by the beam-deconvolved morphology of our sources. Whenever possible, central positions with accuracies of 20-280 mas are provided. A correlation analysis shows that the 33 GHz luminosity weakly correlates with the infrared luminosity. The 33 GHz luminosity is anticorrelated with the circular velocity of the galaxy. The black hole masses show stronger correlations with water maser luminosity than with 1.4 GHz, 33 GHz, or hard X-ray luminosities. Furthermore, the inner radii of the disks show stronger correlations with 1.4 GHz, 33 GHz, and hard X-ray luminosities than their outer radii, suggesting that the outer radii may be affected by disk warping, star formation, or peculiar density distributions.Comment: 18 pages, 10 figures, Accepted for publication in A&

A search for signatures of interactions of X-ray binary outflows with their environments with ALMA

We observed the X-ray binaries CirX-1, ScoX-1, GRS 1915+105, GX13+1, and CygX-1 with the Atacama Large Millimeter/submillimeter Array (ALMA). Unresolved continuum emission is found at the positions of all the sources at a frequency of 92 GHz, with flux densities ranging between 0.8 and 10 mJy/beam. In all cases the emission can be associated with jets that have been extensively observed at lower frequencies. We searched for line emission from H$\alpha$ recombination, SiO,H2O, and CH3OH at the positions of all the sources and, for CirX-1 and CygX-1, also at regions where shocks associated with an interaction between the jet and the interstellar medium had previously been observed. The search did not yield any significant detection, resulting in 3$\sigma$ upper limits between 0.65 and 3.7 K km s$^{-1}$ for the existence of line emission in these regions. In contrast, we detected spatially unresolved SiO emission in the field of view of GX13+1, and we tentatively associate this emission with a SiO maser in a potential young stellar object or evolved star. We also found spatially extended line emission at two additional sites in the field of view of GX13+1 that we tentatively associate with emission from SO and CH3OH; we speculate that it may be associated with a star-forming region, but again we cannot rule out alternative origins such as emission from evolved stars.Comment: Accepted for publication in A&

The Megamaser Cosmology Project. X. High Resolution Maps and Mass Constraint for SMBHs

We present high resolution (sub-mas) VLBI maps of nuclear H2O megamasers for seven galaxies. In UGC6093, the well-aligned systemic masers and high-velocity masers originate in an edge-on, flat disk and we determine the mass of the central SMBH to be M_SMBH = 2.58*10^7Msun(+-7%). For J1346+5228, the distribution of masers is consistent with a disk, but the faint high-velocity masers are only marginally detected, and we constrain the mass of the SMBH to be in the range 1.5-2.0*10^7Msun. The origin of the masers in Mrk1210 is less clear, as the systemic and high-velocity masers are misaligned and show a disorganized velocity structure. We present one possible model in which the masers originate in a tilted, warped disk, but we do not rule out the possibility of other explanations including outflow masers. In NGC6926, we detect a set of redshifted masers, clustered within a pc of each other, and a single blueshifted maser about 4.4pc away, an offset that would be unusually large for a maser disk system. Nevertheless, if it is a disk system, we estimate the enclosed mass to be M_SMBH<4.8*10^7 Msun . For NGC5793, we detect redshifted masers spaced about 1.4pc from a clustered set of blueshifted features. The orientation of the structure supports a disk scenario as suggested by Hagiwara et al.(2001). We estimate the enclosed mass to be M SMBH<1.3*10^7 Msun. For NGC2824 and J0350-0127, the masers may be associated with pc or sub-pc scale jets or outflows.Comment: Accepted by Ap