RESEARCH AND REVIEWS: JOURNAL OF MEDICAL AND HEALTH SCIENCES Intracystic Papillary Carcinoma of the Breast with Associated Invasive Carcinoma: A Rare Case Report. Case Report

ABSTRACT Intracystic papillary carcinoma (IPC) of the breast is an uncommon malignant breast neoplasm representing approximately 0.5% to 2% of all breast cancers and typically occurs in postmenopausal women. We report this case of intracystic papillary carcinoma solid variant associated with foci of invasive ductal carcinoma in a 65 year old female who presented with a painless lump in the left breast associated with axillary lymphadenopathy. Pure intracystic papillary carcinomas have a slow growth rate and excellent prognosis, but the recognition of a coexistent lesion such as ductal carcinoma in situ or invasive ductal carcinoma is very important for which careful pathological examination is essential

Stanniocalcin2, but Not Stanniocalcin1, Responds to Hypoxia in a HIF1-Dependent Manner in the Retina

The quest for neuroprotective factors that can prevent or slow down the progression of retinal degeneration is still ongoing. Acute hypoxic stress has been shown to provide transient protection against subsequent damage in the retina. Stanniocalcins – STC1 and STC2 – are secreted glycoproteins that are hypoxia-regulated and were shown to be cytoprotective in various in vitro studies. Hence, we investigated the expression of stanniocalcins in the normal, degenerating and hypoxic retina. We show that the expression of Stc1 and Stc2 in the retina was detectable as early as postnatal day 10 and persisted during aging. Retinal expression of Stc2, but not Stc1, was induced in mice in an in vivo model of acute hypoxia and a genetic model of chronic hypoxia. Furthermore, we show that HIF1, not HIF2, is responsible for regulating Stc2 in cells with the molecular response to hypoxia activated due to the absence of von Hippel Lindau protein. Surprisingly, Stc2 was not normally expressed in photoreceptors but in the inner retina, as shown by laser capture microdissection and immunofluorescence data. The expression of both Stc1 and Stc2 remained unchanged in the degenerative retina with an almost complete loss of photoreceptors, confirming their expression in the inner retina. However, the absence of either Stc1 or Stc2 had no effect on retinal architecture, as was evident from retinal morphology of the respective knockout mice. Taken together our data provides evidence for the differential regulation of STC1 and STC2 in the retina and the prospect of investigating STC2 as a retinal neuroprotective factor

Hif1a inactivation rescues photoreceptor degeneration induced by a chronic hypoxia-like stress

Reduced choroidal blood flow and tissue changes in the ageing human eye impair oxygen delivery to photoreceptors and the retinal pigment epithelium. As a consequence, mild but chronic hypoxia may develop and disturb cell metabolism, function and ultimately survival, potentially contributing to retinal pathologies such as age-related macular degeneration (AMD). Here, we show that several hypoxia-inducible genes were expressed at higher levels in the aged human retina suggesting increased activity of hypoxia-inducible transcription factors (HIFs) during the physiological ageing process. To model chronically elevated HIF activity and investigate ensuing consequences for photoreceptors, we generated mice lacking von Hippel Lindau (VHL) protein in rods. This activated HIF transcription factors and led to a slowly progressing retinal degeneration in the ageing mouse retina. Importantly, this process depended mainly on HIF1 with only a minor contribution of HIF2. A gene therapy approach using AAV-mediated RNA interference through an anti-Hif1a shRNA significantly mitigated the degeneration suggesting a potential intervention strategy that may be applicable to human patients

Immune Responses to Gene Editing by Viral and Non-Viral Delivery Vectors Used in Retinal Gene Therapy

International audienceInherited retinal diseases (IRDs) are a leading cause of blindness in industrialized countries, and gene therapy is quickly becoming a viable option to treat this group of diseases. Gene replacement using a viral vector has been successfully applied and advanced to commercial use for a rare group of diseases. This, and the advances in gene editing, are paving the way for the emergence of a new generation of therapies that use CRISPR-Cas9 to edit mutated genes in situ. These CRISPR-based agents can be delivered to the retina as transgenes in a viral vector, unpackaged transgenes or as proteins or messenger RNA using non-viral vectors. Although the eye is considered to be an immune-privileged organ, studies in animals, as well as evidence from clinics, have concluded that ocular gene therapies elicit an immune response that can under certain circumstances result in inflammation. In this review, we evaluate studies that have reported on pre-existing immunity, and discuss both innate and adaptive immune responses with a specific focus on immune responses to gene editing, both with non-viral and viral delivery in the ocular space. Lastly, we discuss approaches to prevent and manage the immune responses to ensure safe and efficient gene editing in the retina

Serrated adenoma of stomach: A premalignancy?

Serrated adenoma is a newly described entity in the group of gastric adenomas. Until date only 20 cases of gastric serrated adenoma have been reported. It is an important entity to be diagnosed accurately as it has a very high-risk of malignant transformation, especially those located in the cardia of stomach. Serrated adenoma associated with adenocarcinoma is more frequent in the elderly, but pure serrated adenoma is common in the young, in whom follow-up is mandatory. Gastric serrated adenoma has distinct location, definite histomorphology and characteristic Ki-67 immunohistochemical staining. Ki-67 staining helps to differentiated pure serrated adenoma from those associated with adenocarcinoma. We present a young adult male, incidentally detected to have gastric serrated adenoma

Fine-needle Aspiration Cytology of Abdominal Wall Endometriosis: A Meaningful Adjunct to Diagnosis

Fine-needle aspiration cytology (FNAC) is a simple, non-invasive diagnostic modality which can be performed with ease on any superficially palpable lesion. Surgical scar endometriosis is a rare entity which presents as an abdominal lump in women of reproductive age. It is often a diagnostic pitfall for clinicians due to its nonspecific symptoms. It displays characteristic morphology, which needs to be identified and recognized by a cytopathologist for accurate diagnosis. FNAC can be used as a key diagnostic tool in cases of abdominal wall mass for appropriate patient management, thereby avoiding unnecessary diagnostic procedures. Here, we report the case of a 35-year-old woman who presented with an abdominal lump where FNAC played a vital role in the patient’s management

Coastal Habitat Awareness Campaign

Awareness campaign organised by Mangalore Regional Centre of ICAR CMFR