The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon – closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain, face and their skeletal support.

abdominal mass adjacent to the jejunum (Image). Ultrasound guided biopsy confirmed the diagnosis of a leiomyoma. Due to recurrent bleeding and the extent of the mass, he underwent surgical resection and recovered without incident. Discussion: This case highlights the importance of including non-invasive imaging techniques in the diagnostic tool kit in the evaluation of refractory, obscure bleeding. Non-invasive modalities, such as a RBC scintigraphy and CTA of the abdomen and pelvis, while significantly limited by sensitivity, are essential in cases of refractory obscure GI bleeding when endoscopic evaluation is unrevealing. Here we describe a patient who had a persistent, obscure GI bleed due to a leiomyoma invading the jejunal wall, which was discovered through CTA, despite undergoing scope imaging.[2574] Figure 1. Computed tomography scan images of abdomen showing the 15 cm 3 13.5 cm 3 8 cm leiomyoma in a coronal view (A) and sagittal view (B).

significantly increases the risk of OM. When divided by subtype, CD showed increased odds of developing OM, while UC showed no statistical association with OM. Coordination between specialists is essential to avoid or prevent OM in IBD.

Introduction: Irritable bowel syndrome (IBS) is characterized by recurrent abdominal pain and change in the form and consistency of stool. Two subtypes of IBS are diarrhea-predominant IBS (IBS-D) and constipation-predominant IBS (IBS-C). While IBS symptoms have been shown to decrease quality of life (QOL), the effects of IBS subtypes on QOL are still unclear. The aim of this study was to compare QOL parameters in patients with IBS-D and IBS-C. Methods: Data were obtained as part of an institutional review board-approved study where participants with ROME III positive criteria for IBS-D and IBS-C completed the following validated questionnaires: Bowel Disease Questionnaire, IBS-QOL, Hospital Anxiety and Depression Scale (HADS), Symptom Checklist 90 (SCL-90). We used two sample t-test, Wilcoxon rank sum test, and Pearson chi squared to compare the results between the two groups.Results: The study included 219 patients with IBS-D and 33 with IBS-C. The participants' demographics are reported in the Table . Most patients with IBS-C (70%) had 2-4 bowel movements (BM) per week, while 48% of patients with IBS-D had 13-26 BM per week and 13% had more than 26 BM per week. Patients with IBS-D had higher anxiety, depression, and total anxiety-depression scores on the HADS compared to patients with IBS-C (Table ). Patients with IBS-D had higher scores (reflecting worse symptoms) on the somatization, obsessive compulsive, depression, anxiety, and psychoticism dimensions as measured by the SCL-90. Moreover, patients with IBS-D had higher (reflecting worse) IBS-QOL total and subscale scores on 7 out of the 8 subscales (Table ). Notably, 42% of patients with IBS-D felt like they were slightly or moderately losing control of their lives because of their bowel problems, whereas 92% of patients with IBS-C reported not feeling loss of control at all. While 96% of patients with IBS-C did not feel that their life revolved around their bowel movements, 20% of patients with IBS-D reported life revolved around their bowel movements quite a bit or a great deal, specifically due to needing to be in proximity to a toilet and inability to take long trips. Conclusion: Our study shows that patients with IBS-D seem to have a worse general and IBS-specific quality of life compared to patients with IBS-C. These data reinforce the importance of considering QOL impact of IBS and opportunities for shared decision-making when discussing individual management plans for patients with IBS-D.

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