A Study of Closure of Tympanic Membrane Perforations by Chemical Cauterisation

To study the effectiveness of chemical cautery with patching on chronic tympanic membrane perforations of the pars tensa. Thirty-eight patients with dry tympanic membrane perforations due to inflammatory or traumatic etiology were selected after treating the primary etiological factors like septal deviation and allergic rhinitis. Fifty percentage silver nitrate was used to cauterize the margin and the perforation was covered with thin sterile aluminium foil as a patch. A maximum number of five applications were made, and the patients were followed up for the next 5 years. In this series of 38 patients, highest success was noted among those patients with traumatic perforation, while larger perforations were reduced to small pinhole sizes which were successfully closed by myringoplasty. An overall success rate of 73.75% was achieved. This is a time tested useful method which was popularized by Derlacki (1953), to close small to moderate sized tympanic membrane perforation and should be considered as a first line management in the treatment of tympanic membrane perforation prior to any surgical intervention. Apart from being a simple and economical mode of treatment, it is associated with minimal complications. Though various materials have been used to modify this technique, the principle remains the same and the results obtained in this study is comparable with the previous ones.     

A case report of cecal plasmablastic lymphoma in a HIV-negative patient

Plasmablastic lymphoma (PBL) is a unique type of diffuse proliferation of large neoplastic lymphoid cells most of which resemble B immunoblasts, but all tumor cells show the immunophenotype of plasma cells. It has a strong predilection for jaw and oral cavity in HIV-positive patients. Incidences of extraoral location of this tumor is increasingly being recognized especially in HIV-negative patients for example, stomach, jejunum, omentum, anorectum, lungs, testes, soft tissues, lymph nodes, bone marrow, skin, and central nervous system. We present a case of PBL found in cecum in an HIV-negative patient. It was accompanied by lung and lymph node involvement and presented as abdominal mass. This is only the second reported case of PBL originating in cecum.     

A Variational Bayes Discrete Mixture Test for Rare Variant Association

Recently, many statistical methods have been proposed to test for associations between rare genetic variants and complex traits. Most of these methods test for association by aggregating genetic variations within a predefined region, such as a gene. Although there is evidence that “aggregate” tests are more powerful than the single marker test, these tests generally ignore neutral variants and therefore are unable to identify specific variants driving the association with phenotype. We propose a novel aggregate rare‐variant test that explicitly models a fraction of variants as neutral, tests associations at the gene‐level, and infers the rare‐variants driving the association. Simulations show that in the practical scenario where there are many variants within a given region of the genome with only a fraction causal our approach has greater power compared to other popular tests such as the Sequence Kernel Association Test (SKAT), the Weighted Sum Statistic (WSS), and the collapsing method of Morris and Zeggini (MZ). Our algorithm leverages a fast variational Bayes approximate inference methodology to scale to exome‐wide analyses, a significant computational advantage over exact inference model selection methodologies. To demonstrate the efficacy of our methodology we test for associations between von Willebrand Factor (VWF) levels and VWF missense rare‐variants imputed from the National Heart, Lung, and Blood Institute's Exome Sequencing project into 2,487 African Americans within the VWF gene. Our method suggests that a relatively small fraction (～10%) of the imputed rare missense variants within VWF are strongly associated with lower VWF levels in African Americans.