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Anatomical uniqueness plays a significant role in the personal identification process of unknown deceased. Frontal sinuses have been widely used in the past decades for this purpose, mostly using 2D X-ray techniques. However, the modern 3D CT-based segmentation methods may help in developing novel and more reliable methods of identification. This study aims at assessing the anatomical uniqueness of frontal sinuses through the 3D model registration. Thirty subjects who underwent two maxillofacial CT scans (interval: 1 month to 5 years) were selected from a hospital database. Frontal sinuses were automatically segmented through ITK-SNAP open source software and the 3D models belonging to the same patient were automatically superimposed according to the least point-to-point difference between the two surfaces. Two hundred patients were randomly selected from the same database and undergo the same procedure to perform 200 superimpositions of frontal sinuses belonging to different individuals, equally divided between males and females (mismatches). Statistically significant differences of average root mean square (RMS) point-to-point distance between the group of matches and mismatches, as well as possible differences according to sex, were assessed through Mann-Whitney U test (p

The management of orbital blowout fractures (BOFs) is controversial: the evaluation of diplopia is the most important criterion for planning whether to undertake surgery. Our aim was to determine CT findings that may suggest the presence of diplopia when patients with BOFs cannot be adequately examined to plan an orbital repair. We retrospectively evaluated CT of all patients presented to our Emergency Department for blunt craniofacial trauma (N = 3334) from January 2014 to March 2016, selecting patients with CT-demonstrated BOFs. The following CT variables were assessed: fracture location, fracture multifocality, bone fragments displacement, extraocular muscles (EOM) thickening, EOM entrapment, EOM displacement, EOM hooking, intraconal and extraconal emphysema, intraconal and extraconal hematoma, and fat herniation. All patients underwent Hess-Lancaster test, to establish the presence of diplopia. After performing group comparison with Pearson χ2 test, we derived our prediction model by using logistic regression, with diplopia as the prediction and CT variables as predictors. We observed 299 patients with BOFs, 46 (15.4%) with a Hess Lancaster test-proven diplopia. The CT variables with statistically significant difference between the group with diplopia and the group without diplopia were as follows: floor fracture (p = .014), bone fragments displacement (p = .001), multifocality (p = .005), EOM thickening (p = .001), EOM entrapment (p

Background Squid, as Onyx, is an ethylene-vinyl alcohol copolymer (EVOH)-based liquid embolic agent developed for neuroradiologic interventions with poor application in abdominal district. Our aim was to evaluate safety, complications, and efficacy of transcatheter embolization using the two available formulations Squid-18 and 12, in 30 patients affected by different abdominal diseases. Results Transcatheter embolization with Squid, combined with other embolic agents, as poly vinyl alcohol (PVA) particles, coils and amplatzer plugs, or alone (type 2 endoleak), was performed in 30 patients, as follows: 10 portal vein embolizations (PVEs), 6 arteriovenous malformations (AVMs), 5 visceral artery aneurysms (VAAs), 4 type 2 endoleaks, 3 preoperative embolizations, 1 acute arterial bleeding, 1 female varicocele. Squid was always administered using dimethyl sulfoxide (DMSO) compatible microcatheters. Technical success, 30-day clinical success and complications were assessed. Technical success was 90%. 3 patients (2 AVMs, 1 VAA) required re-intervention successfully performed in all cases. Major complications, cases of microcatheter entrapment and DMSO-related poor pain control were not recorded. 30-day clinical success was 93.3%: in 2 patients submitted to PVE a sufficient future liver remnant (FLR) hypertrophy was not achieved. Conclusion Squid was successfully used with low complication rate in many abdominal diseases showing a valid embolic action either combined with other embolic agents or alone in type 2 endoleak. The availability of different formulations (Squid-18 and Squid-12) variable for viscosity makes Squid preferable to Onyx as EVOH-based liquid embolic agent, even though comparable studies in different abdominal districts with a larger cohort of patients will be necessary.

Objectives/backgroundAtaxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T,ATMgene), ataxia with oculomotor apraxia type 1 (AOA1,APTXgene) and type 2 (AOA2,SETXgene). Although, a few unique clinical features differentiate each of these forms, the patients also share common clinical signs, such as the presence of cerebellar atrophy, sensorimotor axonal neuropathy, and elevated alpha-fetoprotein (AFP) serum level.Materials and methodsWe selected 22 Italian patients from 21 families, presenting progressive cerebellar ataxia, axonal neuropathy, and elevated serum AFP. We screened the coding regions ofATM,APTXandSETXgenes for point mutations by direct sequencing or DHPLC, and searched genomic rearrangements inSETXby MLPA analysis. In selected cases, quantification of ATM and senataxin proteins was performed by Western blot. Clinical, neurophysiological, and neuroimaging data were collected.ResultsThirteen patients (12 families) carriedSETXmutations (AOA2, 57%), two were mutated inATM(A-T), and three inAPTX(AOA1). In three remaining patients, we could not find pathogenic mutations, and in one case we found, in homozygosis, theSETXp.K992R polymorphism (population frequency 1-2%). In AOA2 cases, we identified 14 novel and three reportedSETXmutations. Signs at onset were gait ataxia and facial dyskinesia, and the age ranged between 11 and 18 years. None had obvious oculomotor apraxia at the latest examination (age 14–45 years). The patient carrying the p.K992RSETXpolymorphism had a phenotype similar to that of the diagnosed AOA2 patients, while the other three undiagnosed subjects had a very late onset and a few distinguishing clinical features.Discussion and conclusionsWe describe a large series of 13 AOA2 Italian patients. The phenotype was consistent with previous descriptions of AOA2, except for a higher frequency of strabism, and for the absence of oculomotor apraxia. In our survey ~60% of juvenile-to-adult cases with cerebellar ataxia, sensorimotor neuropathy and increased AFP are due to mutations in theSETXgene, and a smaller percentage toAPTXandATMgene mutations.