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Biomedical subjects

J Margolin

Publications and source records attributed to J Margolin.

At least 19 recordsLinked to original sources
PubMed2002

The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia.

We applied multicolor spectral karyotyping (SKY) to a panel of 29 newly diagnosed pediatric pre B-cell ALLs with normal and abnormal G-banded karyotypes to identify cryptic translocations and define complex chromosomal rearrangements. By this method, it was possible to define all add chromosomes in six cases, a cryptic t(12;21)(p13;q11) translocation in six cases, marker chromosomes in two cases and refine the misidentified aberrations by G-banding in two cases. In addition, we identified five novel non-recurrent translocations - t(2;9)(p11.2;p13), t(2;22) (p11.2;q11.2), t(6;8)(p12;p11), t(12;14)(p13;q32) and t(X;8)(p22.3;q?). Of these translocations, t(2;9), t(2;22) and t(12;14) were identified by G-banding analysis and confirmed by SKY. We characterized a t(12;14)( p13;q32) translocation by FISH, and identified a fusion of TEL with IGH for the first time in ALL. We identified a rearrangement of PAX5 locus in a case with t(2;9)(p11.2;p13) by FISH and defined the breakpoint telomeric to PAX5 in der(9)t(3;9)(?;p13). These studies demonstrate the utility of using SKY in combination with G-banding and FISH to augment the precision with which chromosomal aberrations may be identified in tumor cells.

Acute Disease↗
PubMed2001

Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine.

PURPOSE: To assess thiopurine S-methyltransferase (TPMT) phenotype and genotype in patients who were intolerant to treatment with mercaptopurine (MP) or azathioprine (AZA), and to evaluate their clinical management. PATIENTS AND METHODS: TPMT phenotype and thiopurine metabolism were assessed in all patients referred between 1994 and 1999 for evaluation of excessive toxicity while receiving MP or AZA. TPMT activity was measured by radiochemical analysis, TPMT genotype was determined by mutation-specific polymerase chain reaction restriction fragment length polymorphism analyses for the TPMT*2, *3A, *3B, and *3C alleles, and thiopurine metabolites were measured by high-performance liquid chromatography. RESULTS: Of 23 patients evaluated, six had TPMT deficiency (activity < 5 U/mL of packed RBCs [pRBCs]; homozygous mutant), nine had intermediate TPMT activity (5 to 13 U/mL of pRBCs; heterozygotes), and eight had high TPMT activity (> 13.5 U/mL of pRBCs; homozygous wildtype). The 65.2% frequency of TPMT-deficient and heterozygous individuals among these toxic patients is significantly greater than the expected 10% frequency in the general population (P <.001, chi(2)). TPMT phenotype and genotype were concordant in all TPMT-deficient and all homozygous-wildtype patients, whereas five patients with heterozygous phenotypes did not have a TPMT mutation detected. Before thiopurine dosage adjustments, TPMT-deficient patients experienced more frequent hospitalization, more platelet transfusions, and more missed doses of chemotherapy. Hematologic toxicity occurred in more than 90% of patients, whereas hepatotoxicity occurred in six patients (26%). Both patients who presented with only hepatic toxicity had a homozygous-wildtype TPMT phenotype. After adjustment of thiopurine dosages, the TPMT-deficient and heterozygous patients tolerated therapy without acute toxicity. CONCLUSION: There is a significant (> six-fold) overrepresentation of TPMT deficiency or heterozygosity among patients developing dose-limiting hematopoietic toxicity from therapy containing thiopurines. However, with appropriate dosage adjustments, TPMT-deficient and heterozygous patients can be treated with thiopurines, without acute dose-limiting toxicity.

Adolescent↗
PubMed2001

[Chapters in the history of psychiatry in Israel and its surroundings: B). The Asfouriyeh hospital for the insane in Lebanon].

This is the second of a series of articles dealing with the history of psychiatry in Eretz-Israel and its surroundings. After a brief survey of the Ottoman medicine and Islamic hospitals, this article presents a short description of the treatment for mentally ill patients in the Ottoman Empire. We describe the historical background and the establishment of the Asfouriyeh hospital for the insane in Lebanon towards the end of 19th century, as well as other mental hospitals in this land. We outline some similarities in initiative and administration during the foundation of Ezrath-Nashim hospital in Jerusalem at that time.

History, 15th Century↗
PubMed1996

The erroneous diagnosis of malingering in a military setting.

The paper describes difficulties in diagnosing individuals from different cultures, focusing specifically on cases of erroneous diagnosis of malingering among ultraorthodox Jewish inductees. During one year, 24 inductees diagnosed as malingerers by several army psychiatrists were re-examined by the authors and subsequently re-diagnosed as psychotic, suffering from a personality disorder, or mentally retarded. Factors underlying the misdiagnosis are discussed.

Adolescent↗
PubMed1995

[Consequences of misdiagnosis and labeling in psychiatry].

Differences in diagnostic approaches between psychiatry and other medical specialties were examined and problems resulting from misdiagnosis are presented. The labelling and stigma resulting from misdiagnosis have severe implications and there is inherent difficulty in correcting misdiagnoses of major psychiatric disorders. We present a 38-year-old man who underwent numerous psychiatric and psychological examinations in order to change a previous misdiagnosis. The difficulties examiners had in accepting the possibility of misdiagnosis, and its severe consequences, are described.

Adult↗
PubMed1995

[Misdiagnosis and labeling in psychiatry and their consequences: Part II].

The complexity of arriving at a correct psychiatric diagnosis in cases in which physical and mental disorders are interrelated is discussed. A case is presented in which a psychiatric diagnosis had been made and malingering suspected, although the patient actually had a severe neurological disorder. The psychiatric diagnosis had not been changed despite recurrent medical and psychological examinations which clearly indicated a physical disorder. The difficulties that follow misdiagnosing organic disorders as psychiatric disorders are illustrated. Various aspects of the effects of psychiatric misdiagnosis on functional, legal and civil aspects of life are discussed. Emphasis is given to the problems facing those discharged from military service for medical reasons, especially mental disorders. Important measures are currently being applied to overcome some of these problems. It is strongly emphasized that there is need for greater openness and tolerance among psychiatrists when making psychiatric diagnoses.

Adult↗
PubMed1995

Stigma, labelling and psychiatric misdiagnosis: origins and outcomes.

The sources and consequences of inaccurate psychiatric diagnosis are discussed. The philosophy of the DSM diagnosis system is described, and the hazards of the practice of labelling together with its resulting social stigma are explored. The dangers and complications of psychiatric misdiagnosis are illustrated with a case example. Recommendations are made for extreme caution to be exercised in the making of psychiatric diagnoses and the need to revise misdiagnoses is strongly emphasized.

Adult↗
PubMed1992

Labeling and stigma in psychiatric misdiagnosis.

Labeling and stigma in mental disorders occupy a central place in both mental health theory and practice. Some of the problems involved in making psychiatric diagnoses are reviewed. A case description is presented, demonstrating the dangers and complications of labeling and stigma. The irreversibility of labeling and stigma in psychiatric misdiagnosis is emphasized and discussed.

Decision Making↗
PubMed1989

Supernatural impotence: historical review with anthropological and clinical implications.

The historical and cultural background of the belief in supernatural impotence is presented, emphasizing its possible implications for clinical practice. A brief historical survey of the concept in Judaism and Christianity is followed by a short anthropological survey of supernatural impotence in different ethnic subcultures in Israel. A case demonstration exemplifies the connection between understanding the patient's cultural background and beliefs and the clinical competence of the therapist. The relationship between the clinical-therapeutic process in psychiatric practice and knowledge of the patient's cultural background and beliefs is stressed.

Adult↗