Immunohistochemical Study of Cytokeratin Expression in Familial and Non-familial White Sponge Nevi

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping

Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...

Familial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges.

White sponge nevus (WSN) is a rare autosomal dominant disorder with variable penetrance (1). It was first described by Hyde in 1909 (2); in 1935 Cannon named it white sponge nevus (3). Several other names have been applied to this condition: HydeCannon’s disease, familial white folded dysplasia, congenital leukokeratosis mucose oris, hereditary leukokeratosis, and white folded gingivostomatosis...

Title Abnormalities in connectivity of white-matter tracts in patients with familial and non-familial schizophrenia

Abnormalities in connectivity of white-matter tracts in patients with familial and non-familial schizophrenia.

BACKGROUND Abnormalities in the connectivity of white-matter (WM) tracts in schizophrenia are supported by evidence from post-mortem investigations, functional and structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). The aims of this study were to explore the microstructural changes in first-episode schizophrenia in a Han Chinese population and to investigate whether ...

Acquired melanocytic nevi in childhood and familial melanoma.

IMPORTANCE In the surveillance of familial melanoma, the identification of children at greater risk of developing melanoma later in life would serve as a helpful tool. OBJECTIVE To determine whether acquired melanocytic nevi in childhood are an indicator of risk of melanoma in children from families with familial melanoma. DESIGN, SETTING, AND PARTICIPANTS A 20-year follow-up study of a coh...