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1.
Article | IMSEAR | ID: sea-222210

ABSTRACT

Severe Acute Respiratory Syndrome Coronavirus-2(SARS-CoV-2) is the novel coronavirus responsible for causing Coronavirus disease (COVID-19). The pandemic has seen many ebbs and flows since its detection, particularly regarding various manifestations coupled with it. Secondary fungal infections, especially COVID-19-associated mucormycosis, have seen a summit, especially during the second wave of the pandemic. However, we reported a series of three cases of mucormycosis in association with another fungal mould from the sample received from patients infected with this virus that presented to our hospital during this pandemic. Our report is about the novelty of dual fungal infection caused by a Zygomycete group along with Aspergillus isolated from pulmonary as well as extra-pulmonary sites, all of which were confirmed on culture. Timely and multidisciplinary management of these patients helped patient survival

2.
J Genet ; 2019 Feb; 98: 1-4
Article | IMSEAR | ID: sea-215478

ABSTRACT

This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). This deletion leads to a frameshift and a premature termination signal much upstream of the wild-type termination signal, leading to a nonsense mediated decay of the mRNA. CUL7 protein plays an important role in formation of 3M complex, ubiquitination, microtubule dynamics and cell cycle regulation. Mutations in CUL7 gene is known to cause a rare 3M syndrome. Information about the novel mutation has been accepted in the ClinVar database with rs1064792895.

3.
Indian J Pathol Microbiol ; 2014 Jul-sept 57 (3): 473-475
Article in English | IMSEAR | ID: sea-156091

ABSTRACT

Synovium is specialized mesenchymal tissue lining the inner surface of the joint capsule and is the site for a series of pathologic processes that are characteristic, and in some cases specific, to this distinctive tissue. Hemosiderotic synovitis is a rare and inadequately defined synovial proliferative disorder, which develops with recurrent hemorrhages in the joint. The most affected joint from bleeding is the knee whatever the etiology is. Repeated hemarthrosis may produce significant structural alteration of joints leading to chronic osteoarthritis. The most common cause is hereditary clotting factor deficiency diseases like hemophilia. We report a rare case of nonhemophilic hemosiderotic synovitis of the knee joint, in which the patient lacks history of any bleeding diathesis. Its definitive diagnosis was possible only by histopathological examination. The prompt recognition of this distinct subtype of hemosiderotic synovitis and awareness of underlying causes should lead to earlier diagnosis, appropriate therapy, less joint destruction, and better outcomes.

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