Background: Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon but aggressive, malignant tumours in the paediatric age group. Presentation of concomitant supratentorial and infratentorial lesions in an infant is extremely rare. We discuss an infant diagnosed with such lesions.
View Article and Find Full Text PDFObjective: To explore the experiences and preferences of parents/guardians of adolescents and young adults (AYA) of childbearing potential with co-occurring epilepsy and intellectual disability (ID) regarding counseling by neurologists on sexual and reproductive health (SRH) topics such as pregnancy, contraception, menstruation, and folic acid supplementation.
Methods: We conducted semi-structured interviews with parents/guardians of AYAs (12-28 years old) of childbearing potential with co-occurring epilepsy and ID, recruited from a tertiary-care children's hospital. We confirmed the diagnoses of epilepsy and ID with the patient's neurologist and parent/guardian.
SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share "rhabdoid" morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al.
View Article and Find Full Text PDFThymomas originates from the epithelial cells of thymic tissue. These tumors commonly occur in the anterior mediastinum. However, thymomas can arise anywhere from the aberrant or remnant thymus in the neck or mediastinum.
View Article and Find Full Text PDFMucoepidermoid Carcinoma (MEC) is the most common malignant neoplasm of salivary gland origin. However, its morphologic heterogeneity poses difficulty in interpretation. In the present series we discuss the morphologic features of MEC, limitations and pitfalls in its diagnosis on Fine Needle Aspiration Cytology (FNAC).
View Article and Find Full Text PDFPrimary urinary Bladder Adenocarcinoma (PBA) is an uncommon neoplasm and can cause diagnostic difficulties due to histologic similarities with adenocarcinomas of adjacent structures like Gastrointestinal Tract (GIT) and prostate, since involvement of the bladder by metastasis or direct spread can occur. Seven cases of bladder adenocarcinomas were diagnosed during a period of four years in a tertiary care hospital. Patient's age ranged from 26-78 years with a male predilection.
View Article and Find Full Text PDFBackground: The incidence of and mortality from colorectal cancers (CRC) can be reduced by early detection. Currently there is a lack of established markers to detect early neoplastic changes. We aimed to identify the copy number variations (CNVs) and the associated genes which could be potential markers for the detection of neoplasia in both ulcerative colitis-associated neoplasia (UC-CRN) and sporadic colorectal neoplasia (S-CRN).
View Article and Find Full Text PDFJ Clin Diagn Res
December 2014
Hepatic epithelioid haemangio-endothelioma (HEHE) is a rare vascular tumour of endothelial origin. The etiology of this tumour is unknown and has a variable clinical outcome. It usually affects adults and is extremely rare in children.
View Article and Find Full Text PDFCryptococcus neoformans has been recognized as a human pathogen over centuries. This has achieved new prominence in the recent years as it is an opportunistic fungi causing fatal, deep mycotic infections in immunocompromised states. Although cryptococcus is principally a pathogen of central nervous system, wide variety of other organs may also be involved.
View Article and Find Full Text PDFAfter a disease-free period of 10 years, a surgically treated case of cutaneous malignant melanoma is usually not followed up further and there is a tendency to assume that the disease is cured. Late recurrence (after 10 years) of cutaneous malignant melanoma, though infrequent, has been documented well in Western countries. In our country, the malignant melanoma is still considered uncommon and there is no data regarding its late recurrence.
View Article and Find Full Text PDFThe accurate modeling of protein-ligand interactions, like any prediction of macromolecular structure, requires an energy function of sufficient detail to account for all relevant interactions and a conformational search method that can reliably find the energetically favorable conformations of a heterogeneous system. Both of these prerequisites represent daunting challenges. Consequently, the routine docking of small molecules or peptides to proteins in their correct binding modes, and the reliable ranking of binding affinities remain unsolved problems.
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