Hallermann–Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome?

BACKGROUND: We present the first case of a congenital form of silent brain syndrome (SBS) in a young patient affected by Hallermann-Streiff syndrome (HSS) and the surgical management of the associated eyelid anomalies. METHODS: HSS signs were evaluated according to the Francois criteria. Orbital computed tomography (CT) and genetic analysis were performed. An upper eyelid retractor-free recession was performed. Follow-up visits were performed at day 1, weeks 1 and 3, and months 3, 6, 9 (for both eyes), and 12 (for left eye) after surgery. RESULTS: The patient exhibited six of the seven signs of HSS. Orbital CT showed bilateral enophthalmos and upward bowing of the orbital roof with air entrapment under the upper eyelid as previously described for SBS. Genetic analysis showed a 2q polymorphism. During follow-up, the cornea showed absence of epithelial damage and the upper eyelids were lowered symmetrically, with a regular contour. CONCLUSION: Our HSS patient shares features with SBS. We postulate that SBS could include more than one pattern, ie, an acquired form following ventriculoperitoneal shunting and this newly reported congenital form in our HSS patient in whom typical syndromic skull anomalies led to this condition. The surgical treatment has been effective in restoring an appropriate lid level, with good globe apposition and a good cosmetic result

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Can parental investment reduce social altruistic behaviour in Yellow-legged Gulls Larus michahellis?

This study aims to test if there are differences in nest defence behaviour in single and in groups of Yellow-legged Gulls Larus michahellis during two stages of the breeding season: incubation and early chick-rearing period. When a human intruder wearing a mask approached and stood still next to the target nest during incubation, the gulls took part in passive mobbing and helped the “attacked” gull, thereby showing altruistic behaviour. In contrast, during the early chick-rearing period, decreased altruistic behaviour was observed: the individuals that took part in the passive mobbing tended to remain on their own nests, in order to look after their own chicks. In this stage, a reduction of the size of passive mobbing was also noted. Furthermore, gulls from disturbed nests increased the intensity of nest defence by increasing the number of dives directed at the heads of the human intruders. Again, those gulls whose nests were directly affected by an approaching human intruder left their nests quickly to begin an aerial defence, encouraging the chicks to leave the nest and hide among rocks and shrubs. The adult gulls came back to their nests only after the danger had ceased and the chicks had come back to their nests, in agreement with the Parental Investment Theory

Can parental investment reduce social altruistic behaviour in Yellow-legged Gulls Larus michahellis?

This study aims to test if there are differences in nest defence behaviour in single and in groups of Yellow-legged Gulls Larus michahellis during two stages of the breeding season: incubation and early chick-rearing period. When a human intruder wearing a mask approached and stood still next to the target nest during incubation, the gulls took part in passive mobbing and helped the ‘attacked’ gull, thereby showing altruistic behaviour. In contrast, during the early chick-rearing period, decreased altruistic behaviour was observed: the individuals that took part in the passive mobbing tended to remain on their own nests, in order to look after their own chicks. In this stage, a reduction of the size of passive mobbing was also noted. Furthermore, gulls from disturbed nests increased the intensity of nest defence by increasing the number of dives directed at the heads of the human intruders. Again, those gulls whose nests were directly affected by an approaching human intruder left their nests quickly to begin an aerial defence, encouraging the chicks to leave the nest and hide among rocks and shrubs. The adult gulls came back to their nests only after the danger had ceased and the chicks had come back to their nests, in agreement with the Parental Investment Theory

Environmental impact assessment of an urban port: Noise pollution survey in the port area of Napoli (S Italy)

The quality of life, particularly in the urban environment, becomes degraded, due to a cumulative effect of multiple exposition to pollutants. A special case is represented by urban ports, due to the fact that multiple impacts are superimposed. Moreover, being the port connected to the surrounding urban context, the potential negative impacts are magnified by the high number of exposed citizens in the close vicinity. This is why appropriate monitoring actions constitute the basis to define strategic planning options toward a more livable environment in of port cities. Considering the specific case of noise pollution, due to the cost of monitoring tools, it is important to develop scientifically-sound methodological options to perform preliminary surveys, using available low-cost technologies. This choice has the purpose of minimizing the costs of monitoring, while maximizing its effectiveness. Considering the specific case study of the port area of Napoli (S Italy), this work refers to the use of a freeware, which can be downloaded and installed in a smartphone, with the purpose of performing geo-localized noise pollution surveys. In particular, after defining the quality of collected data through a preliminary laboratory inter-calibration, a series of field surveys were performed in 12 different points and measures were analyzed. Sound Pressure Level measures, which were found to be of higher quality, allowed to define two areas having different noise characteristics. Consequently, these areas could be disentangled in future monitoring operations, reducing the points of measure from 12 to 2. The obtained results suggest an option, which could be applied to other environmental parameters. Moreover, the quality of surveys could be further implemented through the use of aerial platforms, in order to obtain future 3D enhanced environmental scenarios assessment

La sequenza sismica dell'Italia centrale del 24 agosto e successive: contributi alla conoscenza e la banca dati degli effetti di superficie

The effect of earthquakes on structures and landscape can basically be divided into two types: direct and secondary effects. The direct effects are related to the deformation of the ground at the fault whose breakage has generated the seismic event and the effects are limited to an area that is short and close to breakage. The secondary effects resulting from the temporary passage of seismic waves may, however, also affect very large areas, causing a widespread presence of permanent effects on the Earth's surface which may affect very large areas, which, in relation to the length of the fault and the magnitude released by the event can be in the order of thousands of km2. Following the seismic events commenced on 24 August 2016 (M6.0) and continued with the shocks of October 26 (M5.4 and M5.9) until October 30 (M6.5), the Unicam GeomorphoLAB Group has mapped and computerized about 4000 permanent deformations on the Earth's surface recognized in an area of over 6000 km2: fractures to the ground, activation and reactivation of large landslides and DGPV, dolines, mud volcanoes and liquefaction phenomena, landslides and small dams, changes in the water regime of the springs and the flow of rivers, cracks and /or fractures and / or deformations on network infrastructures, etc. The present work, therefore, based on the database and the GIS on surface effects, aims at representing a cognitive and interpretative contribution to the surface evidence produced during the seismic crisis of central Italy, looking, based on correlations with the seismic events that affected Umbria-Marche in 1997 and L'Aquila in 2009, to verify and implement, if necessary, the ESI scale which, in the specific case, seems to underestimate its effects. The analysis allowed to verify a high number of surface effects related to fracturing and seismic cracking and deformations on road and network infrastructures and, instead, a low number of activations and / or reactivations of landslides or subsidence. Although small, very significant is the number of variations of the water regime of the springs

The Role of Hypertropia in the Surgical Management of Bilateral Inferior Oblique Muscle Overaction

Inferior oblique muscle overaction (IOOA) is an ocular motility anomaly consisting of overelevation in adduction, often associated with ipsilateral hypertropia. The weakening procedure of IO muscle is the most widely used procedure in IOOA. Usually, surgical planning is based on the degree of overaction of the IO muscle