Tremor is a major feature of 9p13 deletion syndrome.

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.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

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.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

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.

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.

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, 17ß-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.

Imaging of primary retroperitoneal neoplasms.

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.

[MRI of extraperitoneal rectal carcinoma]. / La diagnostica per immagini del carcinoma del retto sottoperitoneale.

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.

Differences between computed tomoghaphy and surgical findings in acute complicated diverticulitis.

BACKGROUND/OBJECTIVE: A preoperative reliable classification system between clinical and computed tomography (CT) findings to better plan surgery in acute complicated diverticulitis (ACD) is lacking. We studied the inter-observer agreement of CT scan data and their concordance with the preoperative clinical findings and the adherence with the intraoperative status using a new classification of diverticular disease (CDD). METHODS: 152 patients operated on for acute complicated diverticulitis (ACD) were retrospectively enrolled. All patients were studied with CT scan within 24 h before surgery and CT images were blinded reanalyzed by 2 couples of radiologists (A/B). Kappa value evaluated the inter-observer agreement between radiologists and the concordance between CDD, preoperative clinical findings and findings at operation. Univariate and multivariate analysis were used to evaluate the predicting values of CT classification and CDD stage at surgery on postoperative outcomes. RESULTS: Overall inter-observer agreement for the CDD was high, with a kappa value of 0.905 (95% CI = 0.850-0.960) for observers A and B, while the concordance between radiological and surgical findings was weak (kappa values = 0.213 and 0,248, respectively and 95% CI = 0.106 to 0.319 and 95% CI = 0.142 to 0.355, respectively). When overall morbidity, mortality and the need of a terminal colostomy were considered as main endpoints no concordance was observed between surgical and radiological findings and the CDD (P=NS). CONCLUSIONS: The need for a more accurate classification of ACD, able to better stage this emergency, and to provide surgeons with reliable information for the best treatment is advocated.

Dynamic MR imaging of the pelvic floor: a pictorial review.

Pelvic floor dysfunctions involving some or all pelvic viscera are complex conditions that occur frequently and primarily affect adult women. Because abnormalities of the three pelvic compartments are frequently associated, a complete survey of the entire pelvis is necessary for optimal patient management, especially before surgical correction is attempted. With the increasing use of magnetic resonance (MR) imaging in assessing functional disorders of the pelvic floor, familiarity with normal imaging findings and features of pathologic conditions are important for radiologists. Dynamic MR imaging of the pelvic floor is an excellent tool for assessing functional disorders of the pelvic floor such as pelvic organ prolapse, outlet obstruction, and incontinence. Findings reported at dynamic MR imaging of the pelvic floor are valuable for selecting patients who are candidates for surgical treatment and for choosing the appropriate surgical approach. This pictorial essay reviews MR imaging findings of pelvic organ prolapse, fecal incontinence, and obstructed defecation. Supplemental material available at http://radiographics.rsnajnls.org/cgi/content/full/e35v1/DC1.

Assessment of Crohn's disease in the small bowel: Prospective comparison of magnetic resonance enteroclysis with conventional enteroclysis.

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 < 0.01). The accuracy of FIESTA sequence was statistically higher in the depiction of wall ulcers and fistulae than that of three-dimensional fast spoiled gradient echo (3D-FSPGR) (P < 0.01) and ssFSE (P < 0.05) sequences. Contrast-enhanced 3D-FSPGR was superior for mural stenosis visualization compared to ssFSE (P < 0.05) and FIESTA (P < 0.05). MRE correlates accurately with CE in the detection of superficial and transmural abnormalities and has the advantage of assessing the mesenteric manifestations.