Fine-needle aspiration cytology of periarticular nodule - Atypical presentation of gouty tophi: A report of two cases.

Gout is a chronic arthropathy caused due to the deposition of monosodium urate crystals. Gouty tophus can be the initial presenting feature of gout with or without any clinical symptoms. Demonstration of urate crystals in synovial fluid or biopsy helps in confirming the diagnosis of gout. However, fine-needle aspiration cytology (FNAC) of periarticular soft-tissue nodules is a valuable tool in the diagnosis of gout. We present two such cases of isolated soft-tissue lesions wherein the initial diagnosis of gouty tophus was made on FNAC and subsequently followed by a clinical and biochemical workup.

Ollier Disease: Pathogenesis, Diagnosis, and Management.

Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple enchondromatosis with a typical asymmetrical distribution and confined to the appendicular skeleton. The pathogenesis of enchondromatosis is not clearly understood. Recently, heterozygous mutations of PTHR1, IDH1 (most common), and/or IDH2 genes have been suggested by various authors as genetic aberrations. Genomic copy number alterations and mutations controlling many vital pathways are responsible for the pathogenesis of Ollier disease. A comprehensive description of all genetic events in Ollier disease is presented in this article. Clinically, Ollier disease has a wide variety of presentations. This article describes the plethora of clinical features, both common and rare, associated with Ollier disease. Multiple enchondromas are most commonly seen in phalanges and metacarpals. Radiologically, Ollier disease presents with asymmetrical osteolytic lesions with well-defined, sclerotic margins. In this article, various radiological features of Ollier disease, including radiographs, computed tomography, and magnetic resonance imaging, are also discussed. Gross pathology, cytological, and histological features of both Ollier disease and its malignant transformation are outlined. Although treatment is conservative in most cases, different possible treatment options for difficult cases are discussed. In the literature, there is a paucity of data about the disease, including diagnosis, management, prognostication, and rehabilitation, necessitating a comprehensive review to further define all of the possible domains related to this disease.

Revalidation of various clinical criteria for the classification of leprosy--a clinic-pathological study.

UNLABELLED: WHO guidelines classify leprosy patients clinically into PB and MB group based on the number of skin lesions (NSL) with > or = 6 skin lesions as a criterion for MB leprosy. Other clinical criteria for classification are based on the number of body areas affected (NBAA) and on size of the largest skin lesions (SLSL). They are also fairly simple and easily practicable in the field. OBJECTIVES: The objective of this study is to explore whether sensitivity and specificity of the WHO classification can be improved by addition of clinical criteria based on NBAA and SLSL to WHO classification. STUDY DESIGN: Among 100 newly diagnosed untreated leprosy patients classified into PB and MB group according to WHO classification, the NSL and NBAA were recorded and the size (longest diameter) of largest skin lesion was measured in centimeters. The Receiver Operator Characteristic (ROC) curves were plotted for each parameter to find the best cut off point (with highest sensitivity and specificity). RESULTS: The sensitivity and specificity of the WHO classification tested, using slit-skin smear (SSS) and skin biopsy results as the gold standard, was found to be 63% and 85% respectively. The ROC curve for NSL found the best cut off of three and more lesions for MB group (sensitivity 90% & specificity 80%). Similarly, ROC curves for NBAA and SLSL found the best cut off points for classification into MB group to be two or more (sensitivity 90% & specificity 75%) and 5 cm or more (sensitivity 87% and specificity 65%) respectively. On combining all these criteria together sensitivity was increased to 98.5% with no significant change in specificity, which was 77.5%. CONCLUSION: The study concluded that the sensitivity of the present clinical classification can be further improved by addition of two other clinical criteria.

Nevoid hypertrichosis: case report with review of the literature.

Nevoid hypertrichosis is a rare entity characterized by circumscribed patches of terminal hair. It is associated with many cutaneous and extra-cutaneous abnormalities. In our case, a single circumscribed patch of terminal hair growth was present without any underlying or associated cutaneous or systemic abnormalities.

Melorheostosis: clinicopathological features, diagnosis, and management.

Melorheostosis is a rare sclerosing bone disease. This article describes the histological patterns and radiographic characteristics commonly associated with melorheostosis. A paucity of compiled data about the disease in the literature necessitated a comprehensive review to further define its management.

Endometrial intraepithelial carcinoma: a case report and brief review.

This case report describes the precursor lesion of uterine papillary serous carcinoma (UPSC). A 65-year-old post-menopausal female presented with prolapse and vaginal discharge and underwent a hysterectomy revealing an atrophic endometrium, highly atypical endometrial glands, the lining cells of which showed pseudostratification, hobnailing, a high nuclear to cytoplasmic ratio, and prominent nucleoli. A p53 immunoreactivity score of 8 and a MIB-1 index of 80% was obtained leading to a diagnosis of endometrial intraepithelial carcinoma (EIC). Since serous EIC is commonly associated with extra-uterine serous carcinoma, it is a uniquely aggressive precursor lesion. Molecular studies support the hypothesis that EIC is a precursor of both uterine and extra-uterine invasive serous carcinomas. This is why the treatment protocol for EIC cases is total abdominal hysterectomy (TAH), accompanied by a staging procedure. In our patient, EIC was limited to the endometrium; associated with an excellent clinical outcome.

Looking back, looking beyond: revisiting the ethics of genome generation.

This paper will explore some of the ethical imperatives that have shaped strategic and policy frameworks for the use of new genetic technologies and how these play a role in shaping the nature of research and changing attitudes; with an attempt to conceptualize some theories of genetic determinism. I analyse why there is a need to put bioethical principles within a theoretical framework in the context of new technologies, and how, by doing so, their practical applications for agriculture, environment medicine and health care can be legitimized. There are several theories in favour of and against the use of genetic technologies that focus on genes and their role in our existence. In particular the theory of geneticisation is commonly debated. It highlights the conflicting interests of science, society and industry in harnessing genetic knowledge when the use of such knowledge could challenge ethical principles. Critics call it a 'reductionist' approach, based on arguments that are narrowed down to genes, often ignoring other factors including biological, social and moral ones. A parallel theory is that there is something special about genes, and it is this "genetic exceptionalism" that creates hopes and myths. Either way, the challenging task is to develop a common ground for understanding the importance of ethical sensitivities. As research agendas become more complex, ethical paradigms will need to be more influential. New principles are needed to answer the complexities of ethical issues as complex technologies develop. This paper reflects on global ethical principles and the tensions between ethical principles in legitimizing genetic technologies at the social and governance level.