Dysregulated Genes and Signaling Pathways in the Formation and Rupture of Intracranial Aneurysm.

Intracranial aneurysm (IA) has the potential to rupture. Despite scientific advances, we are still not in a position to screen patients for IA and identify those at risk of rupture. It is critical to comprehend the molecular basis of disease to facilitate the development of novel diagnostic strategies. We used transcriptomics to identify the dysregulated genes and understand their role in the disease biology. In particular, RNA-Seq was performed in tissue samples of controls, unruptured IA, and ruptured IA. Dysregulated genes (DGs) were identified and analyzed to understand the functional aspects of molecules. Subsequently, candidate genes were validated at both transcript and protein level. There were 314 DGs in patients with unruptured IA when compared to control samples. Out of these, SPARC and OSM were validated as candidate molecules in unruptured IA. PI3K-AKT signaling pathway was found to be an important pathway for the formation of IA. Similarly, 301 DGs were identified in the samples of ruptured IA when compared with unruptured IAs. CTSL was found to be a key candidate molecule which along with Hippo signaling pathway may be involved in the rupture of IA. We conclude that activation of PI3K-AKT signaling pathway by OSM along with up-regulation of SPARC is important for the formation of IA. Further, regulation of Hippo pathway through PI3K-AKT signaling results in the down-regulation of YAP1 gene. This along with up-regulation of CTSL leads to further weakening of aneurysm wall and its subsequent rupture.

Comparison of propofol and desflurane for postanaesthetic morbidity in patients undergoing surgery for aneurysmal SAH: a randomized clinical trial.

PURPOSE: Surgery for aneurysmal clipping after subarachnoid haemorrhage (SAH) poses a unique anaesthetic challenge. However, data on the influence of anaesthetic agents in these patients are lacking. The study aims to evaluate the superiority of propofol over desflurane for postanaesthetic morbidity in patients undergoing surgery following aneurysmal SAH. METHODS: Seventy World Federation of Neurosurgeons Grade I and II patients were randomized into propofol (n = 35) and desflurane groups (n = 35). Anaesthesia was maintained with propofol/fentanyl in propofol group and desflurane/fentanyl in the desflurane group. Jugular venous oxygen saturation (SjVO2) and brain relaxation were assessed intraoperatively. Time to eye opening, response to verbal commands, and extubation were noted from the time of discontinuing the anaesthetic agent. Duration of postoperative hospital stay and modified Rankin score (MRS) at discharge were subsequently compared. RESULTS: Median postoperative hospital stay was 9 (6, 14) days with use of propofol and 9 (7, 12) days in desflurane group (P = 0.671). 18 patients in the propofol group and 14 patients in the desflurane group had good outcome (modified Rankin score 0-1; P = 0.453). Both the anaesthetics were similar in terms of intraoperative haemodynamics, brain relaxation, time to eye opening, response to verbal commands, and extubation time (P > 0.05). Emergence hypertension was more in the desflurane group (P = 0.007). The intraoperative SjVO2 values were significantly higher in the desflurane group (P < 0.05). CONCLUSION: Propofol and desflurane are comparable in terms of postoperative morbidity in patients undergoing aneurysm neck clipping following SAH.

Proximal-type epithelioid sarcoma in the groin presenting as a diagnostic dilemma.

Epithelioid sarcoma is an uncommon soft-tissue sarcoma typically presenting as a subcutaneous or deep dermal mass in the distal extremities of young adults. Lately, a 'proximal' subtype has been described, which occurs in the pelvic and genital areas of somewhat older individuals and tends to behave more aggressively than the conventional subtype. The correct diagnosis of this subtype is essential, since this tumor can be easily mistaken for other malignant tumors that exhibit epithelioid morphology. We report a case of proximal-type epithelioid sarcoma that presented as an inguinal mass in a 47-year-old man. Histologically, the tumor consisted of diffuse sheets of epithelioid cells with scattered rhabdoid morphology. By immunohistochemistry, the neoplastic cells expressed cytokeratin, epithelial membrane antigen, vimentin, CD34, CD99 and showed complete loss of nuclear INI1 protein expression. Fluorescence in situ hybridization was considered borderline for 22q deletion. We present this case to emphasize the importance of diagnosing this uncommon tumor and the role of INI1 immunohistochemistry in establishing the diagnosis.

Gastric heterotopia of the anus: report of two rare cases and review of the literature.

Heterotopic gastric mucosa is an extremely rare occurrence in the anorectal region, with 41 reported cases till date. Of these, in only nine cases the heterotopic tissue has been found to be located within 2 cm of the dentate line. We report two cases of gastric heterotopia in the anus - one, in a 55-year-old man; and the other, in a 35-year-old woman. Sigmoidoscopy showed presence of a single sessile anal polyp in the first patient and hemorrhoid in the other. Pathologic examination of the biopsy specimens revealed fundic-type gastric mucosa in both the cases. Both the patients had complete resolution of symptoms after the excision. We present these cases to highlight the significance of recognizing this unusual histologic entity. To the best of our knowledge, the second case represents the first reported description of gastric heterotopia in association with hemorrhoid.