Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.

Software-assisted quantitative analysis of small bowel motility compared to manual measurements.

AIM: To validate a newly developed software prototype that automatically analyses small bowel motility by comparing it directly with manual measurement. MATERIAL AND METHODS: Forty-five patients with clinical indication for small bowel magnetic resonance imaging (MRI) were retrospectively included in this institutional review board-approved study. MRI was performed using a 1.5 T system following a standard MR-enterography protocol. Small bowel motility parameters (contractions-per-minute, luminal diameter, amplitude) were measured three times each in identical segments using the manual and the semiautomatic software-assisted method. The methods were compared for agreement, repeatability, and time needed for each measurement. All parameters were compared between the methods. RESULTS: A total of 91 small-bowel segments were analysed. No significant intra-individual difference (p > 0.05) was found for peristaltic frequencies between the methods (mean: 4.14/min manual; 4.22/min software-assisted). Amplitudes (5.14 mm; 5.57 mm) and mean lumen diameters (17.39 mm; 14.68) differed due to systematic differences in the definition of the bowel wall. Mean duration of single measurement was significantly (p < 0.01) shorter with the software (6.25 min; 1.30 min). The scattering of repeated measurements was significantly (p < 0.05) lower using the software. CONCLUSION: The software-assisted method accomplished highly reliable, fast and accurate measurement of small bowel motility. Measurement precision and duration differed significantly between the two methods in favour of the software-assisted technique.

Differentiation between active and chronic Crohn's disease using MRI small-bowel motility examinations - initial experience.

AIM: To evaluate the influence of locally active Crohn's disease on systemic small-bowel motility in patients with chronic Crohn's disease compared to healthy individuals. MATERIAL AND METHODS: Fifteen healthy individuals (11 men, four women; mean age 37 years) and 20 patients with histopathologically proven active (n = 15; 10 women, 5 men; mean age 45 years) or chronic (n = 5; four women, one man; mean age 48 years) Crohn's disease were included in this institutional review board-approved, retrospective study. Magnetic resonance imaging (MRI; 1.5 T) was performed after standardized preparation. Two-dimensional (2D) cine sequences for motility acquisition were performed in apnoea (27 s). Motility assessment was performed using dedicated software in three randomly chosen areas of the small-bowel outside known Crohn's disease-affected hotspots. The main quantitative characteristics (frequency, amplitude, occlusion rate) were compared using Student's t-test and one-way analysis of variance (ANOVA). RESULTS: Three randomly chosen segments were analysed in each participant. Patients with active Crohn's disease had significantly (p < 0.05) reduced contraction frequencies (active Crohn's disease: 2.86/min; chronic: 4.14/min; healthy: 4.53/min) and luminal occlusion rates (active: 0.43; chronic: 0.70; healthy: 0.73) compared to healthy individuals and patients with chronic Crohn's disease. Contraction amplitudes were significantly reduced during active Crohn's disease (6.71 mm) compared to healthy participants (10.14 mm), but this only reached borderline significance in comparison to chronic Crohn's disease (8.87 mm). Mean bowel lumen diameter was significantly (p = 0.04) higher in patients with active Crohn's disease (16.91 mm) compared to healthy participants (14.79 mm) but not in comparison to patients with chronic Crohn's disease (13.68). CONCLUSION: The findings of the present study suggest that local inflammatory activity of small-bowel segments in patients with active Crohn's disease alters small-bowel motility in distant, non-affected segments. The motility patterns revealed reduced contraction-wave frequencies, amplitudes, and decreased luminal occlusion rates. Thus evaluation of these characteristics potentially helps to differentiate between chronic and active Crohn's disease.

Crohn's disease: small bowel motility impairment correlates with inflammatory-related markers C-reactive protein and calprotectin.

BACKGROUND: To evaluate the correlation between the levels of C-reactive protein (CRP), calprotectin, and small bowel motility in patients with Crohn's disease assessed with MRI. METHODS: This prospective institutional review board approved study included magnetic resonance imaging enterography (MRE) and analyses of inflammatory markers in blood (C-reactive protein) and feces (calprotectin). For cine MRE, a coronal 2D-T2w sequence was used on a 1.5 T MRI system. Small bowel motility was analyzed in 13 patients using dedicated magnetic resonance MR-motility assessment software (Motasso). Contraction frequency, amplitude, amplitude diameter ratio, and luminal diameter were determined as well as the blood levels of CRP (mg L(-1) ) and fecal levels of calprotectin (ug g(-1) ). Statistics were calculated using Pearson's correlation coefficient. KEY RESULTS: A significant inverse linear correlation was found between the contraction frequency and both the level of CRP (r = -0.701, P = 0.008) and calprotectin (r = -0.805, P = 0.001). Dilatation of small bowel diameter significantly correlated with calprotectin levels (r = 0.857, P =< 0.001) but not with CRP (r = 0.447, P = 0.126). The absolute amplitude of the contractions did not correlate neither with the level of CRP (r = -0.527, P = 0.064) nor with calprotectin (r = -0.612, P = 0.026). The ratio describing the contraction amplitude relatively to the individual luminal diameter significantly correlated with calprotectin (r = 0.736, P = 0.004) and with CRP (r = 0.577, P = 0.039). CONCLUSIONS & INFERENCES: Alterations of small bowel motility during CD flares significantly correlate with the level of calprotectin and CRP indicating that they represent inflammatory activity.

Two-dimensional echocardiography in the detection of noneffusive cardiac involvement by intrathoracic neoplasms.

Two-dimensional echocardiographic (2DE) findings in four patients with predominantly noneffusive manifestations of intrathoracic neoplasms are presented. In cases Nos. 1 and 2 tumor masses were identified in the left atrioventricular groove area at a time when the left-heart border was obscured by a large pleural effusion on chest x-ray examination. Case No. 3 demonstrated distortion of right ventricular anatomy by a compressing extrinsic mass lesion. In these three cases the neoplasm itself or the complicating pleural effusion provided additional echocardiographic windows for visualizing the heart. Case No. 4 demonstrated dilation of the main pulmonary artery secondary to tumor compression of the left pulmonary artery with regression of the dilation following resection. The relative applicability of 2DE and M-mode techniques and their clinical relevance in tumor patients are delineated.