DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown.

The refractory secondary hyperparathyroidism presenting with retro-orbital brown tumor: a case report.

Background: Tertiary hyperparathyroidism describes the autonomous and excessive secretion of parathyroid hormone (PTH) by the parathyroid glands after longstanding secondary hyperparathyroidism in chronic kidney disease. Brown tumors are a sign of uncontrolled hyperparathyroidism. In this case, we have reported a refractory and destructive hyperparathyroidism storm.

Should Core Needle Lymph Node Biopsy be a Relevant Alternative to Surgical Excisional Biopsy in Diagnostic Work Up of Lymphomas?

Objective: Surgical excisional biopsy is accepted as the standard of care approach in the diagnosis of lympho- mas. Financial issues related to the increased cost and the invasive nature of the procedure forced physicians to use some alternative diagnostic methods. Percutaneous core needle biopsy, which gained a reputation for the diagnosis of lymphomas with the advent of improved pathological, immunohistochemical, and molecular analysis, made it possible to have an accurate diagnosis with limited tissue samples.

High-risk human papillomavirus in Turkish patients with clinically suspicious cervical lesions analyzed by multiplex-PCR.

Background & Objectives: Human papillomavirus (HPV) infection is known to be the main cause of cervical cancer. This study aimed to determine the prevalence of high-risk HPV genotypes in smear specimens taken from women who had normal or abnormal cytology using a multiplex PCR method.

Methods: The study included 270 women aged between 19 and 69 yr with or without suspicious cervical abnormalities.