Huffing and puffing sign in functional axial jerks with secondary gait impairment

Propriospinal myoclonus (PSM) is characterized by predominant axial jerk-like movements. To date, most of the PSM cases reported in the literature are considered to be functional (psychogenic) in origin. The “huffing and puffing sign” is a clinical clue with high diagnostic specificity for a functional etiology in gait disorders. However, this sign has not yet been described in patients with PSM. Here, we report a case of PSM of functional etiology, with coexisting gait disorder and the “huffing and puffing sign.” Our case adds to the list of clinical diagnostic clues that suggest a functional etiology of PSM

Mucins and associated glycan signatures in colon adenoma-carcinoma sequence:Prospective pathological implication(s) for early diagnosis of colon cancer

Development of biomarkers that detect early stage resectable premalignant lesions of colon can provide critical aid in prevention of colorectal cancer. Recent evidences advocate the utility of mucin expression to predict malignant transformation of colon pre-neoplastic lesions. In this study, we investigated the combined expression of multiple mucins and mucin-associated glycans during the adenoma-carcinoma sequence of colon cancer progression. Further, we evaluated their applicability as markers for differentiating adenomas/adenocarcinomas from hyperplastic polyps. Immunohistochemical analyses performed on colon disease tissue microarrays revealed that MUC2, MUC4 expression were downregulated (p<0.0001) and MUC1, MUC5AC expression were upregulated (p=0.01) during adenoma-adenocarcinoma progression. Expression of MUC17 was downregulated in inflamed tissues compared to normal tissues, but its increased expression differentiated adenomas (p=0.0028) and adenocarcinomas (p=0.025) from inflammation. MUC1 specific glycan-Tn/STn-MUC1 showed higher expression in hyperplastic polyps (p=0.023), adenomas (p=0.042) and adenocarcinomas (p=0.0096) compared to normal. Multivariate regression analyses indicated that a combination of MUC2, MUC5AC, and MUC17 could effectively discriminate adenoma-adenocarcinoma from hyperplastic polyps. Altogether, a combined analysis of altered mucins and mucin-associated glycans is a useful approach to distinguish premalignant/malignant lesions of colon from benign polyps