Hearing impairment in Stickler syndrome: a systematic review

BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype. METHODS: English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation. RESULTS: 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired

A water-soluble supramolecular polymeric dual sensor for temperature and pH with an associated direct visible readout

We report a multi-stimuli responsive polymeric sensor consisting of a pseudorotaxane-like architecture fabricated from a 1,5-diaminonaphthalene end-functionalized poly(N-isopropyl)acrylamide (Napht-N-PNIPAM) and cyclobis(paraquat-p-phenylene) (CBPQT4+,4Cl-). The coloured nature of the poly-pseudorotaxane provides a sensor for temperature and pH in water with an associated visible readout. To create this dual responsive polymeric sensor, a new chain transfer agent (Napht-N-CTA) incorporating a pH-responsive 1,5-diaminonaphthalene unit was synthesized and used for the polymerization of N-isopropylacrylamide via Reversible Addition-Fragmentation Chain Transfer (RAFT). The ability of Napht-N-PNIPAM to form a pseudorotaxane architecture with CBPQT4+,4Cl- in aqueous media was studied by means of UV-Vis, NMR (1H, 2D-ROESY, DOSY) and ITC experiments. Interestingly, the pseudorotaxane architecture can be reversibly dissociated upon either heating the sample above its cloud point or protonating the nitrogen atoms of the 1,5-diaminonaphthalene-based guest unit by adjusting the pH to around 1. ln both cases a dramatic colour change occurs from intense blue-green to colourless

Disks around Hot Stars in the Trifid Nebula

We report on mid-IR observations of the central region in the Trifid nebula, carried out with ISOCAM in several broad-band infrared filters and in the low resolution spectroscopic mode provided by the circular variable filter. Analysis of the emission indicates the presence of a hot dust component (500 to 1000 K) and a warm dust component at lower temperatures (150-200 K) around several members of the cluster exciting the HII region, and other stars undetected at optical wavelengths. Complementary VLA observations suggest that the mid-IR emission could arise from a dust cocoon or a circumstellar disk, evaporated under the ionization of the central source and the exciting star of the nebula. In several sources the $9.7\mu m$ silicate band is seen in emission. One young stellar source shows indications of crystalline silicates in the circumstellar dust.Comment: 4 pages with 1 figur

Halting Planet Migration in the Evacuated Centers of Protoplanetary Disks

Precise Doppler searches for extrasolar planets find a surfeit of planets with orbital periods of 3-4 days, and no planets with orbital periods less than 3 days. The circumstellar distance, R_0, where small grains in a protoplanetary disk reach sublimation temperature (~1500 K) corresponds to a period of ~6 days. Interior to R_0, turbulent accretion due to magneto-rotational instability may evacuate the disk center. We suggest that planets with orbital periods of 3-4 days are so common because migrating planets halt once this evacuated region contains the sites of their exterior 2:1 Lindblad resonances.Comment: 9 pages, 1 figure, to appear in ApJ letter

Patient empowerment in Flemish hospital wards : a cross-sectional study

Objective: Measuring empowerment of patients on Flemish hospital wards by the short form of the Patient Activation Measure (PAM-13) and exploring the association between patient empowerment and patient-centred care, health literacy, patient- and context-related characteristics. Methods: Secondary analysis of data collected in nine regional hospitals and one university hospital in Flanders between February and June 2016. Patients needed to be admitted for a least 1 day, aged 18 years or over, and mentally competent with adequate ability to speak and read the Dutch language. Independent t-tests, one-way ANOVA and multivariable regression analysis were performed. Results: Mean empowerment was 58. Of the 670 patients, 22.7% tended to be unprepared to play an active role in their health care, 22.2% were struggling to manage own health, 39.4% reported to take action to maintain and improve own health, and 15.7% reported having confidence to perform adequate behaviours in most circumstances. Multivariable analysis showed that patients living together with family, a partner or a friend (p = 0.018), with higher health literacy (p < 0.001), and with higher perceptions of individuality in patients' care (p < 0.001) had higher empowerment scores. Conclusion: The multivariable analysis found three variables associated with patient empowerment and provided empirical evidence for the interrelatedness between patient-centred care and patient empowerment. Future research should use a clear framework to make sure that all relevant determinants of patient empowerment are included. Interventions to improve patient empowerment should incorporate patient characteristics and elements of both health literacy and patient-centred care