The trip is not over yet as definite therapy for GNE myopathy is not yet available. Also the exact mechanisms by which GNE defects lead to isolated muscle disease in humans are not fully recognized. But in the Gaetano Conte lecture of 2013 I have tried to describe how much a progress was made in several research laboratories and clinical institutes in the investigation of this unique myopathy.

Background : Medical Laboratory plays a critical role in maintaining and promoting health. Increasing wide applications of laboratory medicine in clinical practice have highlighted specific topics in the areas of social, professional and ethical issues in the laboratory. Despite the important role of clinical lab in health system, ethical issues have been rarely discussed for clinical labs. Con...

Abstract Background Leukemia is the most prevalent childhood cancer and Acute Lymphoblastic Leukemia (ALL) constitutes 75% of all cases. The most frequent presenting symptoms are fever, weight loss and pallor. Early detection of clinical symptoms positively affects timely diagnosis. The objectives of the present study were to assess frequency of presenting symptoms, laboratory data, immune ph...

Background: Acute disseminated encephalomyelitis (ADEM), which occurs spontaneously or after systemic viral infection and vaccination mostly affects children. This study aims at describing the epidemiologic, clinical, neuroimaging, laboratory features, treatment and outcome in children who diagnosed as having ADEM and admitted in a referral center in Tehran. Methods: This descriptive prospectiv...

This-work may be regarded as a companion volume of Kolmer and Boerner's Applied Laboratory Technique. Hence, details of procedure are for the most part not given, except for an appended section of 140 pages which will undoubtedly prove valuable for those not having ready access to the previous elaborate text. The subject matter is treated from two points of view, mutually complementary. In the ...

Interference by endogenous and exogenous substances with assays for clinical analytes is a common problem in laboratory medicine. For this review, we defined interference as "the effect of a substance present in the sample that alters the correct value of the result, usually expressed as concentration or activity, for an analyte." There are four major endogenous compounds that consistently inte...