Publications by authors named "J Antich"

Article Synopsis
  • Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes premature aging in children, primarily due to mutations in the lamin A gene, leading to early death from cardiovascular diseases.
  • A study on G608G HGPS mouse models revealed significant cardiac issues, such as reduced output and impaired heart relaxation, as well as skeletal muscle problems like atrophy and increased fibrosis.
  • Additionally, HGPS fibroblasts displayed nuclear irregularities and slowed growth, highlighting the potential targets for future therapeutic strategies for HGPS.
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Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph'). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively.

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Our objective was to construct 3-generation pedigree charts from 350 patients with hallux valgus. During a 1-year period, all consecutive patients (n = 1174) with a painful bunion deformity evaluated roentgenographically were asked to complete a detailed 3-generation family history questionnaire. We studied 350 probands (22 men, 328 women; male/female ratio, 1:14.

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Background And Objectives: Subcutaneous Ara-C plus interferon (IFN) produces more cytogenetic responses than IFN in chronic myeloid leukemia (CML) but a greater toxicity. The objective of this study was to determine the efficacy and tolerance of IFN plus oral Ara-C ocfosfate (YNK-01) in IFN-resistant CML patients.

Design And Methods: A phase II pilot study was conducted in 19 CML patients primarily resistant or with minimal cytogenetic response to IFN.

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One of the responsibilities of cochlear implant centers is to counsel deaf patients regarding the potential for transmitting deafness of their children. Diagnostic studies should be made to determine if deafness is an isolated event or part of a syndrome. We report the criteria used in our center for genetic counseling of the deaf.

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