Sporadic Lateral Ventricular Hemangioblastoma presenting with Intraventricular and Subarachnoid Haemorrhage

Intraventricular hemangioblastoma (HB) is very rare; few cases of intraventricular HB have been reported in the literature, either sporadically or in association with von Hippel-Lindau disease. Furthermore, the incidence of ventricular haemorrhage from HB seems to be uncommon. We report a unique case of sporadic HB of the right lateral ventricle presenting with intratumoural and intraventricular haemorrhage in addition to multifocal intracranial superficial siderosis, indicating the presence of a subarachnoid haemorrhage (SAH) as well. Such a combination has not been reported before. In the future, the detection of an intraventricular mass in association with ventricular haemorrhage, with or without SAH, should include HB as a differential diagnosis, particularly when the imaging appearances are not typical of the more common intraventricular tumours

Giant Spontaneous Femoral Artery Pseudoaneurysm Treated with Covered Stents : Report of a rare presentation and review of literature

We report the case of a 62-year-old woman who presented with a one-month history of a pulsatile mass, with no antecedent trauma or intervention. Imaging showed a large pseudoaneurysm (PSA) of the distal portion of the left superficial femoral artery. The PSA was treated successfully with endovascular placement of covered stents

The role of B-Mode ultrasonography in the detection of urolithiasis in patients with acute renal colic

This study was conducted to assess the diagnostic yield of B-Mode Ultrasonogra-phy compared to unenhanced helical CT scan in detecting urinary stones in patients with acute renal colic. This retrospective study comprised of 156 patients who underwent unenhanced uri-nary tract CT scan and ultrasonography for suspicion of urolithiasis. Both techniques were used to determine the presence or absence, site, size, and number of urinary stones, as well as presence of any other intra-abdominal pathology. For statistical analysis, the sensitivity, specificity, predictive values, and diagnostic accuracy of ultrasonography were measured considering unenhanced CT scan as a gold standard. Unpaired two-tailed student′s t-test was used for comparison between mean size of true positive, false positive, and false negative stones. There were 68 patients having 115 urinary stones. Ultrasound identified 54 stones, missed 43, and falsely diagnosed 18 stones. The mean size of true positive, false positive, and false negative stones were 4.8 ± 3.3 mm, 6 ± 1.8 mm and 4.18 ± 3 mm, respectively. There were 23 patients with other intra-abdominal patho-logies, equally detected by both techniques. Ultrasound helped in identifying the cause of acute flank pain in 62% of cases. The overall sensitivity, specificity, positive and negative predictive values, and accuracy of ultrasonography in the diagnosis of renal stone disease were 58%, 91%, 79%, 78%, and 78% , respectively. Our study suggests that, despite its limited value in detecting urinary stones, ultrasonography should be performed as an initial assessment in patients with acute flank pain. Unenhanced helical CT should be reserved for patients in whom ultrasonography is inconclusive

Correlation between clinical and magnetic resonance imaging (MRI) findings in temporomandibular disorders

This study was carried out to determine the value of Magnetic resonance imaging (MRI) as a diagnostic tool in patients with temporomandibular disorders. The clinical presentation and MRI findings on 88 temporomandibular joints belonging to 44 symptomatic patients were retrospectively studied. The disk position, configuration and signal intensity; mandibular condyle morphology and signal intensity; temporomandibular joint space and surrounding soft tissue abnormality were assessed. The correlation between the clinical and MRI findings was statistically analyzed using Fisher's exact (1-sided) test. Pain in the temporomandibular region was the most common clinical presentation, it accounts for 64% of cases. There was significant correlation between pain, and disc displacement with no reduction (DDWNR) and condylar hyperlaxity (p = 0.04, 0.03, respectively), as well as between clicking and each type of DD (p = 0.00). Statistically significant relationship was also found between tenderness, and DDWNR and presence of joint effusion (p = 0.02, 0.03, respectively) as well as between limitation of mouth opening and condylar marrow edema (p = 0.02). Causes of temporomandibular disorders can be well defined by clinical examination. However, MRI can be preserved for patients with pain in whom an initial medical conservative oral treatment failed in order to exclude other pathological process

Intrasplenic Arterial Aneurysms during Pregnancy

Splenic artery aneurysms account for about 60% of all visceral aneurysms. Pregnancy is a risk factor for splenic artery aneurysms rupture with high maternal mortality and fetal loss. Intrasplenic arterial aneurysms are extremely rare and have not been reported to be associated with pregnancy. This report presents a 34-year-old woman during the second trimester, admitted with severe left upper quadrant and left shoulder pain. She had two uncomplicated intrasplenic aneurysms. Splenectomy was done. She delivered a full term healthy girl. This is the first report of acute abdomen during pregnancy caused by intrasplenic artery aneurysms with maternal and fetal survival

Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

We delineated a syndromic recessive preaxial brachydactyly with partial duplication of proximal phalanges to 16.8 Mb over 4 chromosomes. High-throughput sequencing of all 177 candidate genes detected a truncating frameshift mutation in the gene CHSY1 encoding a chondroitin synthase with a Fringe domain. CHSY1 was secreted from patients' fibroblasts and was required for synthesis of chondroitin sulfate moieties. Noticeably, its absence triggered massive production of JAG1 and subsequent NOTCH activation, which could only be reversed with a wild-type but not a Fringe catalytically dead CHSY1 construct. In vitro, depletion of CHSY1 by RNAi knockdown resulted in enhanced osteogenesis in fetal osteoblasts and remarkable upregulation of JAG2 in glioblastoma cells. In vivo, chsy1 knockdown in zebrafish embryos partially phenocopied the human disorder; it increased NOTCH output and impaired skeletal, pectoral-fin, and retinal development. We conclude that CHSY1 is a secreted FRINGE enzyme required for adjustment of NOTCH signaling throughout human and fish embryogenesis and particularly during limb patterning