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281 results on '"Zaizov, Rina"'

4. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (Report)

Author

Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Cretien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rossler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., and Tamary, Hannah

Subjects
Anemia -- Genetic aspects, Erythropoiesis -- Genetic aspects, Familial diseases -- Research, Biological sciences
Published
2002

9. Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3

Author

Tamary, Hannah, Shalmon, Lea, Shalev, Hanna, Halil, Albudar, Dobrushin, Dina, Ashkenazi, Noga, Zoldan, Meira, Resnitzky, Peretz, Korostishevsky, Michael, Bonne-Tamir, Batsheva, and Zaizov, Rina

Subjects
Anemia -- Genetic aspects, Erythropoiesis -- Genetic aspects, Genetic disorders -- Research, Biological sciences
Abstract

The gene for congenital dyserythropoietic anemia type 1 is located between D15S779 and D15S778 on chromosome 15q15.1-15.3. Eight carrier haplotypes have been identified in a cluster of 25 patients from four large consanguineous Israeli Bedouin families, with indications of a single founder haplotype. The mutation probably occurred between 400-500 years ago.

Published
1998

17. Aminohydroxy propylidene bisphosphonate (APD) treatment improves the clinical skeletal manifestations of Gaucher's disease

Author

Samuel, Ruth, Katz, Kalman, Papapoulos, Socrates E., Yosipovitch, Zvi, Zaizov, Rina, and Liberman, Uri A.

Subjects
Gaucher's disease -- Drug therapy, Diphosphonates -- Evaluation, Osteal manifestations of general diseases -- Drug therapy
Abstract

Aminohydroxy propylidene bisphosphonate (APD) may improve the abnormal bone development that accompanies Gaucher's disease. Gaucher's disease is a genetic disorder that results in abnormal bone growth and excessive organ enlargement. Researchers studied five adolescents with Gaucher's disease. Patients received between 50 and 300 mg of APD per day for 14 to 83 months. Prior to drug therapy, patients experienced an average of 1 to 2.8 episodes of bone destruction per year. Three patients experienced no episodes of bone destruction during APD treatment. The two other patients only experienced two episodes each of bone destruction during drug treatment. The number of bone fractures also decreased during APD treatment. Four patients experienced a total of 10 bone fractures in the six years before treatment, while only one fracture occurred during APD treatment. The drug did not induce significant side effects and patients' growth rates remained normal during treatment., Objective. To evaluate the long-term effects and safety of aminohydroxy propylidene bisphosphonate (APD) treatment on the frequency and severity of the clinical skeletal manifestations of Gaucher&apos;s disease. Methodology. Five adolescents who suffered from recurrent bone crisis episodes and atraumatic bone fractures due to Gaucher&apos;s disease were treated with APD for 14 to 83 months. Results. During the 6 years before treatment, the patients suffered from 6 to 17 bone crisis episodes, or 1 to 2.8 episodes per patient per year. Three patients were free from bone crisis episodes during 14 to 32 months of ADP treatment, while two patients had two such episodes during 60 and 83 months of APD treatment (these represent a decrease in bone crisis episodes from 1 and 2.8 per year to 0.4 and 0.3 per year, respectively. Although four patients suffered from 1 to 3 atraumatic bone fractures during the 6 years preceding treatment (a total of 10 fractures), only one patient sustained a fracture on APD treatment (total of 219 months of treatment). Using APD was not associated with clinical side effects, biochemical aberrations, significant changes in liver and kidney function, or changes in serum levels of the hormones regulating mineral metabolism. In all patients, a band-like metaphyseal sclerosis appeared on radiography of the long bone. However, APD did not interfere with bone growth. Conclusions. The marked clinical improvement in the clinical skeletal manifestations of Gaucher&apos;s disease and the absence of toxic side effects in adolescent patients treated with APD support previous findings in three adult patients on the efficacy of APD and indicate possibilities for its use in inducing prolonged remissions in affected patients. Pediatrics 1994;94:385-389; Gaucher&apos;s disease, bisphosphonate, aminohydroxy propylidene bisphosphonate, bone crisis.

Published
1994

19. Effective preventive central nervous system therapy with extented triple intrathecal therapy and the modified ALL-BFM 86 chemotherapy program in an enlarged non-high risk group of children and adolescents with non-B-cell acute lymphoblastic leukemia: the Israel National Study Report

Author

Stark, Batia, Sharon, Rivka, Rechavi, Gideon, Attias, Dina, Ballin, Ami, Cividalli, Gabriel, Burstein, Yoav, Sthoeger, Dalia, Abramov, Ayala, and Zaizov, Rina

Subjects
Lymphoblastic leukemia in children -- Care and treatment, Radiotherapy -- Usage, Health
Published
2000

23. Myopathic changes as a paraneoplastic sign in childhood acute lymphoblastic leukemia

Author

Shuper, Avinoam, Gilai, Arieh N., Stark, Batya, Zeevi, Orna, Cohen, Ian J., and Zaizov, Rina

Subjects
Muscle diseases -- Causes of, Paraneoplastic syndromes -- Case studies, Lymphocytic leukemia -- Diagnosis, Health
Abstract

Paraneoplastic phenomena should be aggressively investigated in case they are a sign of progressive cancer. These phenomena are symptoms that arise in cancer patients that are not directly related to the cancer. A case is presented of a 5-year-old girl who developed severe muscle weakness. She had been diagnosed with a myeloproliferative disorder at the age of two months. This disorder can be a precursor of cancer. Three months after she developed the muscle weakness, she developed blood cell changes characteristic of acute lymphoblastic leukemia. After treatment, her muscle weakness disappeared.

Published
1998

28. The prognostic significance of glial fibrillary acidic protein staining in medulloblastoma

Author

Goldberg-Stern, Hadassa, Gadoth, Natan, Stern, Sidi, Cohen, Ian J., Zaizov, Rina, and Sandbank, Uri

Subjects
Medulloblastoma -- Prognosis, Proteins -- Measurement, Neuroglia -- Physiological aspects, Brain tumors -- Prognosis, Health
Abstract

Medulloblastoma is a childhood brain tumor involving cells within the cerebellum (an area of the brain). It is known that a medulloblastoma develops from primitive cells, but the exact characteristics of these cells remain a point of contention among pathologists. Some investigators feel that the cells of medulloblastoma are capable of differentiation (expressing the characteristics of a mature cell type), while other investigators doubt this. A study was conducted to determine if medulloblastoma cells expressed the glial fibrillary acidic protein (GFAP), a specific protein that is expressed in the adult forms of certain glial cells in the nervous system. Medulloblastoma specimens from 48 patients with medulloblastoma were stained using immunocytochemical methods to detect GFAP. The protein was clearly identified in 15 cases and was absent in 23 cases. In some cases, the presence or absence of GFAP could not be conclusively determined. When the features of the tumor specimens were correlated with the survival of the patients, no relation could be found between the histologic appearance of the tumor, the number of dividing cells, or several other features, and the length of survival. However, the presence or absence of GFAP correlated significantly with survival. Of the patients expressing GFAP in their tumors, 82 percent were alive at the end of five years. In contrast, only 30 percent of the patients whose tumors did not express GFAP survived five years. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

31. Neonatal ABO incompatibility: complicated by hemoglobinuria and acute renal failure

Author

Merlob, Paul, Litwin, Aviva, Lazar, Leora, and Zaizov, Rina

Subjects
Acute renal failure in children -- Diagnosis, Blood groups -- ABO system, Erythroblastosis fetalis -- Complications, Acute renal failure in children -- Causes of, Health
Abstract

ABO incompatibility is a condition in which the blood type of a newborn is not compatible with that of his or her mother. Among newborns ABO incompatibility is the most common cause of hemolytic disease, which is characterized by the destruction of red blood cells. A small number of infants with ABO incompatibility develop hemoglobinuria (the presence of hemoglobin, the molecule that carries oxygen, in the urine) and acute renal failure. Case studies describe two male newborns with ABO incompatibility who developed massive hemoglobinuria and acute renal failure. The first baby was born to a mother who had previously given birth to two children with ABO incompatibility. These infants were treated successfully. This male newborn developed anemia (a reduction in the number of red blood cells, or in the concentration of hemoglobin) shortly after birth, and his first urine contained a large quantity of hemoglobin. Renal failure was diagnosed. Fluids were administered and the infant's electrolyte imbalance was corrected. He was discharged at the age of 10 days with normal renal function. The second newborn was mildly jaundiced and produced urine containing hemoglobin. Renal failure was diagnosed and similar treatment was instituted. This male infant was also discharged in good health. The incidence of hemolytic disease associated with ABO incompatibility over a period of 16 years was 0.94 in the authors' newborn population. Diagnostic criteria for complicated ABO incompatibility are provided, and the possible reasons for renal failure are discussed. The long-term consequences of this somewhat traumatic beginning for these young patients are not yet known. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

36. Pica

Author

Jaber, Lutfi, Grunebaum, Michael, Zaizov, Rina, and Wood, Beverly P.

Subjects
Iron deficiency anemia in children -- Complications, Abdomen, Family and marriage, Health
Published
1992

38. Room temperature ADP induced first stage hyperaggregation of human blood platelets: a previously undescribed phenomenon and its relationship to spontaneous cold induced platelet aggregation

Author

Cohen, Ian J., primary, Fuchs, Jacob, additional, Kaplinski, Chaim, additional, Krugliak, Judith, additional, Stark, Batia, additional, Vogel, Ruth, additional, Weinberger, Itzhak, additional, Rotenberg, Zvi, additional, Agmon, Jacob, additional, Jerushalmyi, Zohara, additional, and Zaizov, Rina, additional

Published
2008
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40. Prenatal Diagnosis in Li-Fraumeni Syndrome

Author

Avigad, Smadar, primary, Peleg, Dan, additional, Barel, Dalit, additional, Benyaminy, Hadar, additional, Ben-Baruch, Noa, additional, Taub, Ellen, additional, Shohat, Mordechai, additional, Goshen, Yacov, additional, Cohen, Ian J, additional, Yaniv, Isaac, additional, and Zaizov, Rina, additional

Published
2004
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43. CATSPER2, a human autosomal nonsyndromic male infertility gene

Author

Avidan, Nili, primary, Tamary, Hannah, additional, Dgany, Orly, additional, Cattan, Daniel, additional, Pariente, Alexandre, additional, Thulliez, Michel, additional, Borot, Nicolas, additional, Moati, Lucien, additional, Barthelme, Alain, additional, Shalmon, Lea, additional, Krasnov, Tatyana, additional, Ben-Asher, Edna, additional, Olender, Tsvyia, additional, Khen, Miriam, additional, Yaniv, Issac, additional, Zaizov, Rina, additional, Shalev, Hanna, additional, Delaunay, Jean, additional, Fellous, Marc, additional, Lancet, Doron, additional, and Beckmann, Jacques S, additional

Published
2003
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