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Retroperitoneal soft tissue tumors are frequently incidental findings on imaging tests as Computed tomography (CT) or Magnetic Resonance Imaging (MRI). Retroperitoneal soft tissue tumors are rare and therefore not common in daily radiological practice. Clinician and radiologist'skills to set retroperitoneal soft tissue tumors at presentation is crucial for a correct patient management. So far, several diagnostic algorithms have been proposed to assess retroperitoneal masses, which have not been validated by case histories (2-5). The aim of this article is to evaluate a new classification of retroperitoneal masses using CT and MRI. KEY WORDS: CT, Diagnosis, MRI, Retroperitoneum, Soft tissue sarcoma.Le masse retroperitoneali vengono scoperte molto frequentemente con le tecniche d’imaging (TC e RM) eseguite per altri motivi o per sintomi aspecifici. Le masse retroperitoneali sono rare e pertanto non sono frequenti nella pratica radiologica quotidiana. La capacità del Clinico e del Radiologo di inquadrarle all’esordio è fondamentale per la corretta gestione del paziente. E’ fondamentale che il paziente venga indirizzato in centri specializzati ove vi sia un approccio multidisciplinare, dal momento che, la sopravvivenza libera da malattia dipende, dopo la biologia del tumore, dalla radicalità del primo intervento chirurgico. Anche l’utilizzo di CHT e di RT prima o dopo l’intervento sono opzioni che necessitano di una valutazione multidisciplinare e possono fare la differenza nella sopravvivenza. L’imaging ha molteplici ruoli nella valutazione delle masse retroperitoneali: individuare e stabilirne la sede, che non è scontata nelle forme voluminose; valutare il rapporto con le strutture vicine e l’infiltrazione di organi, visceri o vasi, fornendo elementi utili per il planning operatorio; valutare la multifocalità e la presenza di lesioni a distanza; guidare la biopsia della massa e ricercare un eventuale persistenza o recidiva di malattia nel follow-up. Un altro ruolo dell’imaging è quello di fornire elementi per la caratterizzazione. Le caratteristiche radiologiche di questo gruppo eterogeneo di tumori possono essere simili. La conoscenza comunque delle caratteristiche specifiche all’imaging, unita alla conoscenza delle caratteristiche cliniche ed epidemiologiche delle masse retroperitoneali possono aiutare il radiologo a restringere il campo delle diagnosi differenziali e in alcuni casi fare una diagnosi specifica. Fino ad ora sono stati proposti diversi algoritmi diagnostici per inquadrare i tumori retroperitoneali basati sulla sede e sulle caratteristiche di densità in TC e di segnale in RM, ma non sono stati testati su casistiche. Lo scopo di questo lavoro è stato quello di valutare l’attendibilità delle tecniche d’imaging di inquadrare i tumori retroperitoneali sulla base della classificazione che abbiamo proposto.

Proximal interstitial deletions of chromosome 9p13 have been described only in a few patients with developmental delay, moderate intellectual disability, craniofacial dysmorphism, short stature, genital anomalies, and precocious puberty. To corroborate and expand these findings, we report on two novel syndromic male patients with 9p13 deletions suffering from a similar form of tremor and compare them with literature data. Despite genomic variability in deletion sizes, all patients displayed homogeneous dysmorphism and clinical manifestations, including very invalidating tremor. Furthermore, we outlined a region of around 2 Mb shared in common by all patients with nearly 70 genes, among which NPR2 might have a role in the phenotype. These data delineate interstitial 9p13 deletion syndrome with tremor as a major feature.

Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype.

The purpose of our study was to assess the potential role of chest CT in the early detection of COVID-19 pneumonia and to explore its role in patient management in an adult Italian population admitted to the Emergency Department.Three hundred and fourteen patients presented with clinically suspected COVID-19, from March 3 to 23, 2020, were evaluated with PaO2/FIO2 ratio from arterial blood gas, RT-PCR assay from nasopharyngeal swab sample and chest CT. Patients were classified as COVID-19 negative and COVID-19 positive according to RT-PCR results, considered as a reference. Images were independently evaluated by two radiologists blinded to the RT-PCR results and classified as "CT positive" or "CT negative" for COVID-19, according to CT findings.According to RT-PCR results, 152 patients were COVID-19 negative (48%) and 162 were COVID-19 positive (52%). We found substantial agreement between RT-PCR results and CT findings (p 0.000001), as well as an almost perfect agreement between the two readers. Mixed GGO and consolidation pattern with peripheral and bilateral distribution, multifocal or diffuse abnormalities localized in both upper lung and lower lung, in association with interlobular septal thickening, bronchial wall thickening and air bronchogram, showed higher frequency in COVID-positive patients. We also found a significant correlation between CT findings and patient's oxygenation status expressed by PaO2/FIO2 ratio.Chest CT has a useful role in the early detection and in patient management of COVID-19 pneumonia in a pandemic. It helps in identifying suspected patients, cutting off the route of transmission and avoiding further spread of infection.

Cadherins are cell-adhesion molecules that control morphogenesis, cell migration, and cell shape changes during multiple developmental processes. Until now four distinct cadherins have been implicated in human Mendelian disorders, mainly featuring skin, retinal and hearing manifestations. Branchio-skeleto-genital (or Elsahy-Waters) syndrome (BSGS) is an ultra-rare condition featuring a characteristic face, premature loss of teeth, vertebral and genital anomalies, and intellectual disability. We have studied two sibs with BSGS originally described by Castori et al. in 2010. Exome sequencing led to the identification of a novel homozygous nonsense variant in the first exon of the cadherin-11 gene (CDH11), which results in a prematurely truncated form of the protein. Recessive variants in CDH11 have been recently demonstrated in two other sporadic patients and a pair of sisters affected by BSGS. Although the function of this cadherin (also termed Osteoblast-Cadherin) is not completely understood, its prevalent expression in osteoblastic cell lines and up-regulation during differentiation suggest a specific function in bone formation and development. This study identifies a novel loss-of-function variant in CDH11 as a cause of BSGS and supports the role of cadherin-11 as a key player in axial and craniofacial malformations.

17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins. After puberty, the patient did not show hypocortisolism and/or hypertension. She started estrogen therapy for pubertal induction, followed by ethinylestradiol/gestodene with clinical and biochemical stability during the follow-up period. At the age of 40 years, she developed hypokalemia and clinical signs of hypocortisolism. Oral corticosteroid treatment was started showing a prompt clinical improvement. Modeling analysis predicted the main outcome of the E331 deletion to impair cytochrome b5 binding, according to a major effect on the enzyme’s lyase activity. These data broaden the molecular and clinical spectrum of CAH caused by 17α-hydroxylase deficiency and adds to current genotype–phenotype correlations.

Last years technological developments in imaging field have made a substantial contribution to diagnosis and staging of rectal cancer. Endorectal ultrasound and MRI with endorectal coil are very useful in rectal cancer initial staging thanks to their ability to distinguish between the rectal wall layers. Major ultrasound limitations are presence of inflammations, desmoplastic reaction and small field of view which limits evaluation of perirectal invasion. MRI with phased-array coils, instead, allows depiction of mesorectum and to assess the distance between tumor and mesorectal fascia. Unfortunately CT shows low accuracy compared to MRI in local staging because it fails to distinguish the rectal wall layers. The criterion used in assessing nodal involvement remains unfortunately still the dimensional one even if new contrast media based on nano-iron particles look promising in this regard On reassessment after chemo-radiotherapy treatment, MRI proved to be a very accurate tool thanks to its ability to detect tumor downstaging, disappearance of mesorectal fascia infiltration or even to show a complete response. The presence of recurrence can be studied by contrast enhanced perfusion-MRI or with good accuracy using PET which, however, presents major technical limitations at present.

Our objective was to assess the diagnostic value of magnetic resonance enteroclysis (MRE) compared with conventional enteroclysis (CE) in patients with Crohn’s disease. A secondary objective was to evaluate the diagnostic accuracy of each different MR sequence. Sixty-six consecutive patients with known Crohn’s disease underwent MRE and CE. Fast imaging employing steady-state acquisition (FIESTA), single-shot fast spin-echo (ssFSE), and contrast-enhanced T1-weighted sequences were assessed by two radiologists who reached a consensus about the following findings: visualization of wall ulcers, pseudopolyps, fistulae, mural stenosis, and mesenteric abnormalities. Standard descriptive statistics and the McNemar test were used. The sensitivity, specificity and accuracy of MRE were 90–87% and 83% for the depiction of parietal ulcers, 84%–88% and 86% for pseudopolyps, 100–94% and 96% for mural stenosis, 93–100% and 94% for fistulae. The number of detected extraluminal findings was significantly higher with MRE (P