First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.

BACKGROUND: Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.

MRgFUS thalamotomy for the treatment of tremor: evaluation of learning curve and operator's experience impact on the procedural and clinical outcome.

BACKGROUND: MRgFUS Vim ablation is increasingly used for the treatment of tremor in ET e PD patients but there is little published research on the importance of operator experience in this procedure. This study aims to evaluate the learning curve and the influence of the operator experience on the procedural and clinical outcomes. METHODS: We retrospectively evaluated 90 patients (38 ET, 52 PD) submitted to MRgFUS unilateral thalamotomy in the period between February 2018 and July 2020. Clinical endpoints, procedural times, and technical parameters were recorded in all procedures. Based on the time of treatment, patients were divided into three groups of 30 units each, comparing all variables between each time period group. RESULTS: In Group A, the average patient preparation time was 120.6 min, the treatment time was 105.2 min, the number of was sonications 14.1, and the mean target shifts 3.1. In Group B, the mean preparation time was 105.5 min, the treatment time was 89.5 min, the number of sonications was 13.2, and the target shifts 3.0. Group C showed inferior values of preparation time (101.9 min), treatment time (71.7 min), numbers of sonications (10.6), and shifts (1.7). Thalamotomy-related complications occurred in 9 patients of Group A, 2 of Group B, and 5 of Group C. Tremor relapse occurred in 7 patients of Group A, 3 of Group B, and 2 of Group C. The days of hospitalization were comparable in the three groups. CONCLUSIONS: The operators experience is associated with the improvement of clinical and procedural outcome in MRgFUS thalatomy for the treatment of ET and PD tremor.

Degenerative and inflammatory musculoskeletal disorders: updates and hot topics in diagnostic and interventional imaging.

OBJECTIVE: The purpose of this review is to present the latest innovations and current topics in musculoskeletal diagnosis and interventional imaging, with a focus on degenerative and inflammatory diseases. MATERIALS AND METHODS: In this study, the search was conducted through the online databases PubMed and Google Scholar, including articles published in English in the past 15 years, in order to find existing studies, clinical cases, and reviews on the latest innovations and current topics in degenerative and inflammatory musculoskeletal pathologies. RESULTS: Imaging plays a pivotal role in the diagnosis and treatment of MSK degenerative and inflammatory disease. In the last few years continuous innovations and technological advances have allowed new clinical applications in the management of MSK disorder. Advanced magnetic resonance techniques, the introduction of fusion imaging techniques and new approaches to infiltrative medicine are revolutionizing the clinical and therapeutic approach to degenerative and inflammatory pathologies. Artificial intelligence also increasingly seeks to be applied in all fields of medicine and radiology with increasingly promising results. CONCLUSIONS: Imaging modalities undergo continuous innovations and revolutions due to technological advances, with direct repercussions on clinical applications and new therapeutic potential through interventional radiology techniques. In recent years, there have been particular innovations in the context of musculoskeletal imaging of degenerative and inflammatory diseases, both for diagnosis and intervention.

Thoracic non-traumatic cardiovascular diseases: current perspective and multi-detectors Computed Tomography protocols optimization in the emergency setting.

Cardiovascular diseases (CVDs) are among the most common causes of access to the Emergency Department and among the leading causes of death worldwide. Accurate diagnostic algorithms are mandatory to ensure a rapid life-saving treatment. However, non-specific clinical presentation and unnecessary referrals to other subspecialties may lead to misinterpretation of the diagnosis and delays. In recent years, the development of imaging technologies has allowed Computed Tomography (CT) to play a prominent role in the concepts of CVD rule-in and rule-out. An optimization strategy for CT protocols is needed to reduce variability and improve image quality. A correct diagnostic suspicion is crucial, as different districts (i.e., heart, aorta and pulmonary circulation) may require different investigation techniques. Additionally, the CVD pre-test probability assessment is highly correlated with CT accuracy. The purpose of this narrative review is to analyze the current role of CT in the approach to the CVDs in the ED, and to analyze the main strategies of CT optimization.

Prognostic value of brain tissues' volumes in patients with essential tremor treated with MRgFUS thalamotomy.

MRgFUS Vim thalamotomy is a novel, effective, minimally invasive therapeutic option for patients with essential tremor (ET). Among the selection criteria, some parameters related to the patient's anatomy, such as the skull density ratio (SDR), are well recognized. The role of brain tissue interposed between the target and the ultrasound transducers has never been explored. Therefore, the purpose of our study was to evaluate the correlation and the possible predictive value between brain tissue volumes (grey matter - GM, white matter - WM, and cerebrospinal fluid - CSF) and several treatment-related variables (periprocedural parameters, MRI imaging findings, and the clinical outcome). We analysed data from thirty ET patients previously submitted to MRgFUS thalamotomy. Pre-treatment images were automatically segmented in sopra-tentorial (ST) WM, GM, and CSF using SPM 12. The most significant findings were a positive correlation of the ST-GM with the Accumulated Thermal Dose (ATD) (p < 0,001) and a negative correlation of the ATD temperature with ST-CSF and ST-TIV (p < 0,001). Ultrasound propagation speed is lower in fluids than brain tissues. Also, WM has an attenuation rate of 1.5 higher than the GM. Therefore, the difference in the ATD may be explained by the different acoustic properties of normal brain tissues interposed between the transducers and the VIM.

Museum samples could help to reconstruct the original distribution of Salmo trutta complex in Italy.

Partial D-loop sequences of museum specimens of brown trout and marble trout (Salmo trutta species complex) collected from Mediterranean rivers in the late 19th century were analysed to help to describe the native distribution of these species. All the individuals studied carried native haplotypes, the geographic distribution of which is consistent with published data. These results indicate that museum specimens from the 19th century could represent an opportunity to get a picture of the original genetic diversity distribution of this species complex.

Follow-up of surgical and minimally invasive treatment of Achilles tendon pathology: a brief diagnostic imaging review.

The follow-up of an operated tendon is primarily clinical, although clinical examination may not be sufficient in the presence of certain complications. The imaging techniques are of great value not only in the diagnosis of tendon pathologies, but also as an adjunct to clinical evaluation. This is particularly true in the follow-up of patients submitted to surgical tendon reconstruction, by monitoring morphological effects of different interventions and evaluating tendon healing processes. Interpretation of imaging findings requires knowledge of the imaging appearance of the operated tendon during the healing phase, to distinguish between normal postsurgical changes and real pathology, as well as knowledge of surgical technique, postoperative course (including type of prescribed therapy) and possible postoperative complications. The most important imaging modalities to examine the Achilles tendon are ultrasound and magnetic resonance imaging. This article gives a review of some of the most common treatment strategies for Achilles tendon pathology, expected postoperative imaging findings and postoperative complications.

What can be seen after rotator cuff repair: a brief review of diagnostic imaging findings.

Diagnostic imaging plays an important role in the postoperative evaluation of the rotator cuff, as pain and disability may occur or persist after treatment. Postoperative imaging is therefore of paramount importance for clinicians before planning additional treatments. Multimodality imaging of the postoperative shoulder includes radiography, magnetic resonance (MR) imaging, MR arthrography, computed tomography (CT), CT arthrography, and ultrasound. Correct interpretation of imaging findings of the postoperative shoulder necessitates that the radiologist be familiar with the various treatment strategies, their possible complications and sources of failure, knowledge of normal and abnormal postoperative findings, and awareness of the advantages and weaknesses of the different imaging techniques. Imaging findings, however, should always be correlated with the clinical presentation because postoperative imaging abnormalities do not necessarily correlate with symptoms. This manuscript is a review of some of the most common treatment strategies for rotator cuff pathology, with a focus on expected postoperative imaging findings and postoperative complications.

Imaging of post-operative spine in intervertebral disc pathology.

This work is an imaging review of spine after surgery with special regard to imaging modality in intervertebral disc pathology. Advances in imaging technology can be evaluated. Depending on the clinical question is asked to the radiologist, it is possible to evaluate post-operative patients with conventional radiology (X-ray), computed tomography and magnetic resonance. Main indications for each technique are analysed. Imaging is important in the diagnosis of many forms of spine pathology and plays a fundamental role in evaluating post-surgical effects of treatments, according to the imaging method which is used, both on spine and on its surrounding tissues (intervertebral discs, spinal cord, muscles and vessels).

New insights into sex chromosome evolution in anole lizards (Reptilia, Dactyloidae).

Anoles are a clade of iguanian lizards that underwent an extensive radiation between 125 and 65 million years ago. Their karyotypes show wide variation in diploid number spanning from 26 (Anolis evermanni) to 44 (A. insolitus). This chromosomal variation involves their sex chromosomes, ranging from simple systems (XX/XY), with heterochromosomes represented by either micro- or macrochromosomes, to multiple systems (X1X1X2X2/X1X2Y). Here, for the first time, the homology relationships of sex chromosomes have been investigated in nine anole lizards at the whole chromosome level. Cross-species chromosome painting using sex chromosome paints from A. carolinensis, Ctenonotus pogus and Norops sagrei and gene mapping of X-linked genes demonstrated that the anole ancestral sex chromosome system constituted by microchromosomes is retained in all the species with the ancestral karyotype (2n = 36, 12 macro- and 24 microchromosomes). On the contrary, species with a derived karyotype, namely those belonging to genera Ctenonotus and Norops, show a series of rearrangements (fusions/fissions) involving autosomes/microchromosomes that led to the formation of their current sex chromosome systems. These results demonstrate that different autosomes were involved in translocations with sex chromosomes in closely related lineages of anole lizards and that several sequential microautosome/sex chromosome fusions lead to a remarkable increase in size of Norops sagrei sex chromosomes.

Occurrence and long-term outcome of tumefactive demyelinating lesions in multiple sclerosis.

Although tumefactive multiple sclerosis is a well recognized variant of multiple sclerosis, prognostic uncertainty still exists about long term prognosis. The aim of this study was to estimate the occurrence and long term outcome of tumefactive demyelinating lesions (TDLs) in a cohort of multiple sclerosis patients. We reviewed brain MRI of 443 patients referred to our MS clinic. All patients meeting the McDonald criteria for multiple sclerosis and showing at least one TDL were included. Kaplan-Meier estimates of disease-free survival in patient cohort were compared with control group without TDLs using a log-rank test. Seven cases with TDLs were identified (occurrence 1.58 %). Tumefactive demyelinating lesion recurrence was 16.6 %. Cumulative proportion of patients free from clinical relapse and from new T2 lesions was lower in the control group although not reaching statistical significance (30 vs 50 %; P = 0.666 and 21.7 vs 33.3 %; P = 0.761, respectively). Disability progression analysis showed a not significant trend towards lower probability of remaining progression free for TDL patients (50 vs 61 %; P = 0.295). Occurrence of tumefactive demyelinating lesions in our cohort was higher than those reported in other studies. Overall, TDLs were not predictive of poor outcome in terms of disability progression.

Genome duplication in early vertebrates: insights from agnathan cytogenetics.

Agnathans represent a remnant of a primitive offshoot of the vertebrates, and the long evolutionary separation between their 2 living groups, namely hagfishes and lampreys, could explain profound biological differences, also in karyotypes and genome sizes. Here, cytogenetic studies available on these vertebrates were summarized and data discussed with reference to the recently demonstrated monophyly of this group and to the 2 events of whole genome duplication (1R and 2R) characterizing the evolution of vertebrates. The comparison of cytogenetic data and phylogenetic relationships among agnathans and gnathostomes seems to support the hypothesis that 1R and 2R occurred before the evolutionary divergence between jawless and jawed vertebrates.

MR assessment of lumbar disk herniation treated with oxygen-ozone diskolysis: the role of DWI and related ADC versus intervertebral disk volumetric analysis for detecting treatment response.

We prospectively assessed the diagnostic criteria of morphologic MRI study (MMS) and the accuracy of DWI and related ADC values (DWI-ADC) versus intervertebral disk volumetric analysis (IDVA) for predicting shrinkage of lumbar disk herniation treated with oxygen-ozone (O2-O3) diskolysis. Sixty-eight patients (36 men and 32 women; mean age 39) with lumbosciatica underwent O2-O3 diskolysis. The six-month MRI follow-up was performed with FSE-T2 and T2-fat, SE-T1 and DWI-weighted images. IDVA was determined using OsiriX(®). Diagnostic criteria and accuracy were evaluated with regards to DWI and related ADC in detecting response to ozone therapy. Fifty-eight of 68 patients had successful outcomes (responders), whereas ten patients showed unsatisfactory outcomes (non-responders). MMS showed that a centrally located herniated disk and grade 1 nerve root compression were more common in the responder group (p < 0.05). DWI-ADC and IDVA showed statistically significant shrinkage in the sixth month of follow-up (p < 0.05) with a mean ADC value reduction of 2.10 × 10(-3) mm(2)/s +/- 0.19 SD in the second month of follow-up (p < 0.05). DWI-ADC had an accuracy of 0.81 in detecting response to therapy around the second month of follow-up. DWI-ADC appear to be useful adjuncts to MMS in the follow-up of patients undergoing O2-O3 diskolysis.

Isolation of novel microsatellite loci in the black goby Gobius niger and cross-amplification in other gobiid species (Perciformes, Gobiidae).

Twelve microsatellite loci were isolated from and characterized for the black goby Gobius niger. These loci were tested on a total of 48 individuals from two geographically distant locations (Orbetello and Cattolica) and the number of alleles ranged from two to 18, with expected (H(e)) and observed (H(o)) heterozygosities ranging from 0.042 to 0.941 and from 0.042 to 0.917, respectively. The loci described were used to cross-amplify other gobiid species belonging to Gobius, Zosterisessor, Lesueurigobius and Aphia.

Pediatric inflammatory diseases. Part I: multiple sclerosis.

Multiple sclerosis (MS) is an inflammatory CNS disease characterized by multifocal areas of demyelination; usually it arises in young adults, but can also occur in children (under the age of 10) and adolescents (under the age of 18). As in adult, pediatric MS (PMS) diagnosis is based on the demonstration of multiple demyelination episodes separated in time and spaces. Diagnostic criteria realized for childhood are similar to those employed for adults. Although clinical and imaging features of PMS can be similar to those of adults, the disease is often characterized by a more aggressive course and atypical imaging findings, with giant and pseudotumoral plaques. Differential diagnosis between PMS and ADEM could be difficult: clinical findings and MRI are necessary; sometimes MRI follow-up is required for definitive diagnosis.

Pediatric Inflammatory Diseases. Part III: Small Vessels Vasculitis.

Central nervous system (CNS) vasculitis can affect both adults and children, but some of these occur almost exclusively in childhood. In children may develop as a primary condition or secondary to an underlying systemic disease. Cerebral vasculitis can be classified on the basis of the diameter of the involved vessels, although there is no univocal consensus. The diagnosis of CNS vasculitis is particularly difficult because the available investigative modalities have limited sensitivities and specificities. The most helpful diagnostic tests include cerebrospinal fluid analysis, MRI (MR angiography/venography (MRA/MRV) of the brain, and angiography. However, brain biopsy may be required to diagnose small vessel vasculitis in order to make differential diagnosis with a wide range of conditions, such as degenerative vasculopathies, embolic diseases, or coagulation disorders. This paper discusses on current understanding of most frequent primary and secondary central nervous system vasculitis in children in which are involved small vessel.

Chromosomal study of native and hatchery trouts from Italy (Salmo trutta complex, Salmonidae): conventional and FISH analysis.

A cytogenetic analysis was carried out using conventional staining, banding techniques and fluorescence in situ hybridization (FISH) in Italian populations of brown trout (Salmo truttacomplex). All individuals analysed, belonging to the Atlantic (At), Marmoratus (Ma), Adriatic (Ad) and Mediterranean (Me) lineages, showed remarkable karyotype uniformity, with diploid complement of 2n = 80 chromosomes, arm number (NF) of 102 and invariable karyotype composition. Such uniformity was also observed with respect to the location of 5S rDNA and the active, i.e. silver-positive NOR sites. On the contrary, FISH with 28S ribosomal probe and fluorescent staining with CMA3 revealed that inactive NOR sites are more numerous in Ad and Me than in At and Ma lineages. A centromeric sequence was successfully isolated from Salmo trutta individuals by polymerase chain reaction (PCR)-based cloning, using primers designed from published Atlantic salmon (Salmo salar) satellite DNA sequences. This sequence had high AT content (65.3%) and short consensus motif (A/T)(G/C)AAA(T/C) similar to other centromeric satellite repeats. The isolated satellite DNA clones were localized with FISH in the centromeric regions of the brown trout chromosomes, showing lineage-specific patterns. Because it is well known that AT-rich sequences can induce a pronounced DNA curvature, which in turn would promote faster and higher chromatin spiralization, it may be hypothesised that the wide distribution of this satellite in the S. trutta genome may have played a role in its karyotype stability. The presence of this sequence in other salmonid species was also tested by Southern blot hybridization and used to analyze its evolution within salmonids.

Mitochondrial DNA variation of an isolated population of the Adriatic brook lamprey Lampetra zanandreai (Agnatha: Petromyzontidae): phylogeographic and phylogenetic inferences.

Two mitochondrial genes were examined to compare an isolated population of the Adriatic brook lamprey Lampetra zanandreai in central Italy with other populations in the species range (Po plain) and with parasitic and freshwater lampreys. A single haplotype, identical to one in a Venetian sample, was found in 10 individuals from the isolated population. The reduced variability is consistent with a history of dispersal after the Pleistocene expansion of the Po basin. The results support the hypothesis of an origin of L. zanandreai and L. fluviatilis-L. planeri from a common anadromous ancestor.

The chromosomal complement of the artedidraconid fish Histiodraco velifer (Perciformes: Notothenioidei) from Terra Nova Bay, Ross Sea.

The karyotype of Histiodraco velifer from the Antartic Ocean was analyzed using various banding methods and in situ hybridization with a telomeric probe. A male and a female had a diploid set of 46 chromosomes (6 submetacentric + 40 acrocentric, FN = 52); the nucleolar organizer was CMA3-positive and was located on the short arm of a medium-sized submetacentric pair. All chromosomes stained uniformly with DAPI, whereas C-banding revealed heterochromatic blocks that were mostly located centromerically and telomerically and were resistant to ALUI digestion. The substantial identity of the karyotype of H. velifer with that of the other artedidraconids investigated so far suggests that chromosome changes must have played a less than significant role in the speciation among the lineages of this fish family endemic to Antarctica.

Soft tissue liposarcoma: histological subtypes, MRI and CT findings.

PURPOSE: Liposarcoma is the second most common malignancy of soft tissues. The commonly accepted classification of liposarcoma includes five basic histological categories: well-differentiated, myxoid, round cell, dedifferentiated and pleomorphic liposarcoma. The clinical behaviour of liposarcoma closely reflects its histological appearance, so that to identify the histological subtypes is very important for both prognosis and therapy. The aim of this study was to ascertain whether the histological features of liposarcoma subtypes can be correlated with MRI (Magnetic Resonance Imaging) and CT (Computed Tomography) findings by retrospectively evaluating nineteen cases of histologically-proved liposarcoma. MATERIALS AND METHODS: The MRI examinations performed over the past eight years on nineteen patients affected by liposarcoma were retrospectively reviewed. All patients underwent ultrasound and MRI examination; T2 and T1-weighted sequences were available in all cases and fat-saturated sequences in 4 cases; all patients were administered paramagnetic contrast material. CT scans were obtained in twelve patients. All patients had a biopsy, surgical resection and histology. RESULTS: The study group had 7 well-differentiated, 8 myxoid, 3 pleomorphic and 1 round cell liposarcoma. Well-differentiated liposarcomas had largely lipomatous appearance on both CT and MRI, typically with septa and areas showing high signal intensity on T2w MR images and low signal intensity on T1w images, and slightly hypodense compared to the muscle in CT, representing the sarcomatous areas. Myxoid liposarcomas were mildly heterogeneous with typical high signal intensity on T2w images and isointense to the muscle in T1w images, with lacy or linear septa of fatty tissue in six cases. The pleomorphic and round-cell subtypes demonstrated marked heterogeneity on MR images, with areas of necrosis and heterogeneous contrast enhancement, indistinguishable from other high-grade sarcomas. DISCUSSION AND CONCLUSIONS: Well-differentiated liposarcoma may be distinguished from other types of liposarcoma by its largely lipomatous appearance. Myxoid liposarcoma may be distinguished on the basis of its homogeneous or mildly heterogeneous structure due to the large amounts of the extracellular myxoid material that give it its typical MR appearance. Both well-differentiated and myxoid liposarcomas, the most common types accounting for about 50% of all liposarcomas, have a more favourable clinical behaviour than the other histological types. Differentiation of these from the other histological types of liposarcoma therefore has a high significance for prognosis and therapeutical approach. On the basis of our experience and of the literature, we believe that diagnostic imaging and in particular the MR examination may lead to a correct diagnosis.