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Muchtar E.,Institute of Hematology | Muchtar E.,Tel Aviv University | Ram R.,Institute of Hematology | Ram R.,Tel Aviv University | And 9 more authors.
Leukemia Research | Year: 2014

Total therapy 3 is an intensified protocol for multiple myeloma (MM). The "real life" outcomes of this protocol were seldom reported. Data was obtained for 81 patients (newly diagnosed, n=. 49; progressive MM, n=. 32), most of which had high-risk parameters. Overall response rate following (V)DT-PACE was 96% and 75% for the newly diagnosed and progressive groups, respectively. Median progression-free survival was 42.5 and 9 months, respectively. The 2-year overall survival was 88% and 40%, respectively. Treatment with (V)DT-PACE achieves high response rate among patients with high-risk disease, which can be translated into long-term remission only for newly diagnosed patients. © 2014 Elsevier Ltd.

COHEN L.,The Raphael Recanati Genetic Institute | COHEN L.,Schneider Childrens Medical Center | COHEN L.,Tel Aviv University | TZUR S.,Emedgene Technologies | And 6 more authors.
Genetics Research | Year: 2016

Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inherited Leber's hereditary optic neuropathy are the most common forms. Optic atrophy type 1, caused by mutations in the OPA1 gene is believed to be the most common hereditary optic neuropathy, and most patients inherit a mutation from an affected parent. In this study we used whole-exome sequencing to investigate the genetic aetiology in a patient affected with isolated optic atrophy. Since the proband was the only affected individual in his extended family, and was a product of consanguineous marriage, homozygosity mapping followed by whole-exome sequencing were pursued. Exome results identified a novel de novo OPA1 mutation in the proband. We conclude, that though de novo OPA1 mutations are uncommon, testing of common optic atrophy-associated genes such as mitochondrial mutations and OPA1 gene sequencing should be performed first in single individuals presenting with optic neuropathy, even when dominant inheritance is not apparent. Copyright © Cambridge University Press 2016

Cohen I.J.,The Raphael Recanati Genetic Institute | Cohen I.J.,Tel Aviv University | Wolff J.E.,Tufts Medical Center
Pediatric Blood and Cancer | Year: 2014

To determine the optimal time of folinic acid rescue after methotrexate (MTX) treatment in patients with ALL, we selected and evaluated relevant studies that included doses, rescue delay, and side effects. Rescue at 42-48 hours resulted in considerable toxicity, except when low doses of MTX were used (1 g/m2) or serum MTX levels remained consistently low at 24, 30, and 36 hours. Rescue started at 30-36 hours was safe. In the absence of evidence that later rescue improves prognosis, we suggest that folinic acid rescue (105 mg/m2) be started no later than 36 hours from the start of MTX (5-6 g/m2). Pediatr Blood Cancer 2014;61:7-10. © 2013 Wiley Periodicals, Inc.

Maya I.,The Raphael Recanati Genetic Institute | Davidov B.,The Raphael Recanati Genetic Institute | Gershovitz L.,The Raphael Recanati Genetic Institute | Zalzstein Y.,The Raphael Recanati Genetic Institute | And 5 more authors.
Prenatal Diagnosis | Year: 2010

Objective: Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009. Method: The indications for testing were fetal anomalies on ultrasound (U/S), advanced maternal age (AMA), family history of a disorder of unknown etiology, parental concern, abnormal routine karyotype and abnormal serum biochemical screening for common fetal aneuploidies. Results: Of 15 cases with a known abnormal karyotype, 11 had a normal aCGH. This enabled us to reassure the families and the pregnancies were continued. The remaining four showed an abnormal aCGH, confirming the chromosomes were unbalanced, and were terminated. Of 254 cases with a normal karyotype, 3 had an abnormal aCGH and were terminated. Overall, new clinically relevant results were detected by aCGH in 18 cases, providing additional information for prenatal genetic counseling and risk assessment. Conclusion: Our results suggest that prenatal aCGH should be offered particularly in cases with abnormal U/S. We found the rate of detecting an abnormality by aCGH in low-risk pregnancies was 1:84, but larger studies will be needed to expand our knowledge and validate our conclusions. Copyright © 2010 John Wiley & Sons, Ltd.

Melamed O.,The Raphael Recanati Genetic Institute | Behar D.M.,The Raphael Recanati Genetic Institute | Behar D.M.,Molecular Medicine Laboratory | Bram C.,Michigan State University | And 11 more authors.
Clinical Genetics | Year: 2015

Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene. The prevalence of HD is known for Europeans but has not been studied in the Israeli population. Between 2006 and 2011 we diagnosed in our adult genetics clinic ten HD probands, nine of whom were Caucasus Jews (CJ) (Azerbaijani), and one Ashkenazi Jewish. We performed haplotype analysis to look for evidence of a founder mutation, and found that of the nine CJ, eight shared the same haplotype that was compatible with the A1 haplogroup. We calculated the coalescence age of the mutation to be between 80 and 150years. Ninety percent of our HD patients are CJ, as are 27% of the HD patients in Israel, although the CJ comprise only 1.4% of the Israeli population. Our findings suggest a higher prevalence of HD among CJ compared to the general Israeli population and are consistent with a recent founder mutation. We recommend a higher degree of suspicion for HD in CJ with subtle clinical findings. © 2015 John Wiley & Sons A/S.

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