What is in a cause? Exploring the relationship between genetic cause and felt stigma

PURPOSE: Concern over stigma as a consequence of genetic testing has grown in response to the recent increase in genetic research and testing resulting from the Human Genome Project. However, whether a genetic or hereditary basis necessarily confers a stigma to a condition remains unexamined. METHODS: We performed a qualitative interview study with 86 individuals with one of four conditions: deafness or hearing loss, breast cancer, sickle cell disease, and cystic fibrosis. The first two groups were divided approximately between people who ascribed their conditions to a genetic or hereditary cause and those who did not. RESULTS: Respondents interpreted genetic or hereditary causes and nongenetic causes in a variety of ways. Subjects with breast cancer reported the most consistently negative interpretation of genetic cause. This response concerned future ill health, not an enduring sense of stigma. Deaf and hard of hearing subjects provided the most consistently positive comments about a genetic or hereditary basis to their condition, casting familial hearing loss as a vital component of group and individual identity. Respondents with sickle cell disease and cystic fibrosis offered similar and positive interpretations of the genetic cause of their condition insofar as it meant their conditions were not contagious. CONCLUSIONS: Although some subjects report feeling stigmatized as a result of their condition, this stigmatization is not uniformly associated with the condition's cause, genetic or otherwise. Instead, stigma emerges from a variety of sources in the context of the lived experience of a particular condition.     

Late Dissection of Pulmonary Autograft Treated by Valve-Sparing Aortic Root Replacement

Abstract   Dissection of the pulmonary autograft is an extremely rare complication requiring emergent treatment as there is a chance of rupture and proximal aortic involvement. The autograft dissection can involve the aortic annulus, causing separation of leaflets from the annulus in addition to causing annular dilatation, thereby precluding resuspension of leaflets. The usual treatment in such cases is to perform the Bentall procedure, which involves placing a valved conduit (usually mechanical valve) and thereby necessitating anticoagulation. This report describes a case of successful valve-sparing aortic root replacement following the Ross procedure with dissection of autograft.     

Aspergillus Iris Granuloma: A Case Report with Review of Literature

We report the case of a 25-year-old male patient who presented with complaints of redness, photophobia, and decreased vision in the right eye of a week's duration. Slit-lamp biomicroscopic examination revealed a cream-colored, irregular elevated inferior iris mass, extending on to the anterior lens surface. Differential diagnoses of a fungal granuloma, a medulloepithelioma, and an amelanotic melanoma were considered. An excisional biopsy of the mass was performed through a superior clear corneal incision. Polymerase chain reaction analysis of the aqueous humor showed a positive pan fungal genome. Histopathology of the biopsied mass showed a giant cell granuloma with surrounding numerous branching, septate hyphae. Culture growth revealed Aspergillus fumigatus We report this case because of the rarity of Aspergillus iris granuloma as a primary presentation of endogenous Aspergillosis and review the relevant literature. Absence of a significant systemic history compounded the diagnostic dilemma in our patient. Definitive differentiation of this rare entity from a foreign body, amelanotic melanoma, and other inflammatory conditions such as sarcoidosis and tuberculosis, may be possible only on microbiological and histo-pathological evaluation.     

Comparative assesment of gingival thickness using transgingival probing and ultrasonographic method.

A decided attitude of expectation among many patients has given a new perspective to regenerative and plastic periodonta surgery. With authors emphasizing on the importance of gingival thickness, attempts are being made to obtain necessary information atraumatically and rapidly. Hence in the present study an attempt has been made to compare the two methods of assessing gingival thickness i.e transgingival probing and ultrasonographic method and also assess the gingival thickness in relation to central incisor lateral incisor and canine in Indian population. The gingival thickness was assessed in patients with healthy gingiva by both the methods. It was observed that transgingival probing method significantly over estimated the thickness of gingiva than the ultrasonographic method and the thickness of gingiva varies with morphology of the crown. It was concluded that compared to transgingival probing ultrasonographic method assesses gingiva thickness more accurately, rapidly and atraumatically.     

Pegylated interferon alfa 2b and oral ribavirin in patients with HCV-related cirrhosis.

BACKGROUND: The treatment of hepatitis C virus (HCV)-related cirrhosis is difficult due to high frequency of adverse effects. We retrospectively reviewed the case records of patients with HCV cirrhosis to evaluate the efficacy and tolerability of pegylated (peg) interferon and ribavirin treatment in these patients. METHODS: Medical records of 28 patients with HCV-related compensated cirrhosis were reviewed. The treatment protocol was a combination therapy of peg interferon alfa-2b (1 microg/Kg/week) plus oral ribavirin (10-12 mg/Kg/day). Primary endpoint was sustained virological response, with additional endpoints of drug tolerance, clinical or biochemical worsening and death. RESULTS: End-of-treatment virlogic response was seen in 24 of 28 patients (85%) and sustained virologic response in 15 of 28 (53%) patients. Biochemical end-of-treatment response and sustained response were seen in 20 and 16 patients (71% and 57%), respectively. Treatment had to be stopped in 3 patients due to decompensation of liver status in two and drug intolerance in one, while dose modification was required in two patients. CONCLUSIONS: Combination therapy with peg interferon plus ribavirin seems effective in patients with liver cirrhosis. High relapse rate, poor biochemical recovery and possibility of decompensation are issues that need to be kept in mind.