Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.

Background: Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifestations of two families affected with CRC and proposed appropriate individual preventive strategies for all carriers of the variant.

A Novel Splice-Site Mutation in Is Associated With the Development of Lynch Syndrome.

Lynch syndrome (LS) is an inherited autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes, including , and . This study aimed to analyze the molecular defects and clinical manifestations of an affected family and propose appropriate individual prevention strategies for all mutation carriers. A novel splicing mutation (c.

Expanded Paramedian Forehead Flaps for Nasal Defects: Beyond Aesthetic Subunits.

Background: Reconstruction of nasal tip defects presents a significant challenge for plastic surgeons. The form, function, and aesthetic appeal of all nasal subunits must be addressed. The expanded paramedian forehead flap is a good choice for nasal reconstruction, providing similar texture, structure, and skin color, and high reliability.

Angiocentric glioma: a report of nine new cases, including four with atypical histological features.

Aims: Angiocentric glioma (AG) is a rare, slow-growing tumour of the central nervous system. It is often associated with refractory epilepsy and occurs most commonly in children and young adults. We herein report nine cases of AG, including four with atypical histological findings.

[Expression of PI3K pathway proteins in refractory epilepsy associated with cortical malformation development].

Objective: To investigate the expression of TSC1, TSC2, p-mTOR, p-4E-BP1, p-p70S6K and p-S6 in refractory epilepsy associated malformation of cortical development (MCD) tissues.

Methods: A total of 43 cases of refractory epilepsy were involved in the study, and all the patients were treated in Xuanwu Hospital during 2005 - 2008, including focal cortical dysplasia type IIa (11 cases) and type IIb (11 cases), tuberous sclerosis complex (10 cases) and ganalioglioma (11 cases), and other 12 cases were used as control. These cases were divided into 7 study groups and immunohistochemical EnVision method was used.

Chordoid glioma of the third ventricle: four cases including one case with papillary features.

Chordoid glioma is a rare, slowly growing tumor of the CNS, which is always located in the third ventricle of adults. Chordoid glioma has classic histological features consisting of clusters and cords of epithelioid tumor cells embedded within a mucinous stroma with rich lymphoplasmacytic infiltrate. The important distinctive immunohistochemical feature of this neoplasm is strong and diffuse reactivity for GFAP.