Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders.

Objective: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).

Materials And Methods: Detection of JAK2 V617F mutation by allele specific-PCR.

Results: One hundred and three patients with CMD were included in the study.

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness-causing mutations in the OTOF gene.

Program for the conservation and promotion of hearing among adolescents.

Purpose: We describe a program for the promotion of hearing conservation aimed at the adolescent population. The intent of our program is to (a) detect hearing disorders early, as well as to establish their relation to psychosocial and acoustic factors; (b) devise a follow-up procedure to study relevant variables; (c) evaluate the relation between hearing disorders and genetic factors, and (d) raise the social awareness of the effects of noise and its consequences.

Method: This program, designed to be carried out over a 7-year period, focuses on participants from technical schools in the city of Cordoba, Argentina.

Accuracy of leukocyte alkaline phosphatase score to predict JAK2 V617F mutation.

Granulocyte activation parameters have been described in patients with myeloproliferative disorders (MPD). We have evaluated the accuracy of leukocyte alkaline phosphatase (LAP) score to predict JAK2 V617F mutation. LAP score was obtained using a cytochemical reaction in granulocytes of patients' peripheral blood with MPD.

[Genetic study of hearing loss in families from Argentina].

Recent advances in molecular genetics as well as improved strategies for the prevention and control of non-syndromic hearing loss (NSHL) have contributed to the rising importance of their inherited causes. In this study we report 32 families from Argentine with one (sporadic) or more (familial) individuals affected. All the families were initially screened for mutations in three autosomal nuclear genes and one mutation in mitochondrial DNA.

Trypanosoma cruzi in persons without serologic evidence of disease, Argentina.

Current diagnosis of chronic Chagas disease relies on serologic detection of specific immunoglobulin G against Trypanosoma cruzi. However, the presence of parasites detected by polymerase chain reaction (PCR) in patients without positive conventional serologic testing has been observed. We determined the prevalence and clinical characteristics of persons with seronegative results and T.