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עמוד בית
Tue, 16.04.24

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July 2011
G.Y. Stein, D. Blickstein, J. Orlin, G. Sarig and A. Inbal
 

Acquired thrombotic thrombocytopenic purpura (TTP) is an uncommon disease in adults, characterized by fever, neurological manifestations, microangiopathic hemolytic anemia, thrombocytopenia, renal dysfunction, and the presence of antibodies against the enzyme ADAMTS13. Treatment with plasmapheresis has increased the survival from 10% to more than 90%. Still, there is a subset of patients with resistant TTP who fail to respond to plasmapheresis or remain dependent on this procedure. There is mounting evidence that rituximab may play an important role in remission induction of resistant/relapsing TTP; however, the extent of the remission is unknown. We present here four patients with chronic-relapsing TTP who responded favorably to rituximab. All four patients achieved prolonged remission of 23 to 82 months after the treatment.  One patient relapsed 6 years after the initial treatment with rituximab and re-entered remission following retreatment.

 

September 2010
I. Fuchs, M. Abu-Shakra, E. Gelfer, A. Smoliakov, D. Ben-Haroch, J. Horowitz and L.S. Avnon
May 2010
A. Kesler, I. Haber and S. Kurtz

Background: Normal-tension glaucoma is a chronic progressive optic neuropathy of unknown etiology. Neuroimaging workup in these patients is controversial.

Objectives: To determine the value of routine neurologic and neuro-ophthalmologic evaluations in patients with NTG[1].

Methods: We conducted a retrospective review of all patients diagnosed with NTG in our institution between 2001 and 2006. Neurologic and neuro-ophthalmologic data were evaluated.

Results: Sixty-eight patients were considered suitable for the study (35 males, 33 females age range 43–90 years). Neurologic and neuro-ophthalmologic findings were normal in all of them. The computed tomography brain scan was normal in 88% and duplex carotid Doppler scan was normal in 92%.

Conclusions: Pathologic findings in neurologic and neuro-ophthalmologic assessments were uncommon in NTG. Therefore, contrary to earlier suggestions, neurologic and neuro-ophthalmologic evaluations in typical normal-tension glaucoma patients appear to have no added value.




 

[1] NTG  = normal-tension glaucoma


 

 
 
 
November 2008
Michal Tenenbaum, Shahar Lavi, Nurit Magal, Gabrielle J. Halpern, Inbal Bolocan, Monther Boulos, Michael Kapeliovich, Mordechai Shohat, Haim Hammerman

Background: Long QT syndrome is an inherited cardiac disease, associated with malignant arrhythmias and sudden cardiac death.

Objectives: To map and identify the gene responsible for LQTS[1] in an Israeli family.

Methods: A large family was screened for LQTS after one of them was successfully resuscitated from ventricular fibrillation. The DNA was examined for suspicious loci by whole genome screening and the coding region of the LQT2 gene was sequenced.

Results: Nine family members, 6 males and 3 females, age (median and interquartile range) 26 years (13, 46), who were characterized by a unique T wave pattern were diagnosed as carrying the mutant gene. The LQTS-causing gene was mapped to chromosome 7 with the A614V mutation. All of the affected members in the family were correctly identified by electrocardiogram. Corrected QT duration was inversely associated with age in the affected family members and decreased with age.
Conclusions: Careful inspection of the ECG can correctly identify LQTS in some families. Genetic analysis is needed to confirm the diagnosis and enable the correct therapy in this disease







[1] LQTS = long QT syndrome


October 2008
P. Rozen, Z. Levi, R. Hazazi, I. Barnes-Kedar, Z. Samuel, A. Vilkin and Y. Niv

Background: Dedicated, organ-specific screening clinics have been shown to significantly reduce cancer morbidity and mortality.

Objectives: To establish a dedicated clinic for Clalit Health Service patients at high risk for hereditary gastrointestinal cancer and to provide them with clinical and genetic counseling, diagnostic screening and follow–up.

Results: During the 3 years of the clinic's activity, 634 high risk families, including 3804 at-risk relatives, were evaluated. The most common conditions were hereditary colorectal syndromes, Lynch syndrome (n=259), undefined young-onset or familial colorectal cancer (n=214), familial adenomatous polyposis (n=55), and others (n=106). They entered follow-up protocols and 52 underwent surgical procedures.

Conclusions: Consistent public and professional education is needed to increase awareness of hereditary colorectal cancer and the possibility of family screening, early diagnosis and therapy. The public health services – i.e., the four health management organizations – should provide genetic testing for these patients who, at present, are required to pay for almost all of these available but costly tests. Dedicated colorectal surgical units are needed to provide the specialized therapeutic procedures needed by patients with familial colorectal cancer. Our future plans include adding psychosocial support for these at-risk patients and their families as well as preventive lifestyle and dietary intervention. 

April 2008
S. Berestizschevsky, D. Weinberger, I. Avisar and R. Avisar
December 2007
H.N. Baris, I. Kedar, G.J. Halpern, T. Shohat, N. Magal, M.D. Ludman and M. Shohat

Background: Fanconi anemia complementation group C and Bloom syndrome, rare autosomal recessive disorders marked by chromosome instability, are especially prevalent in the Ashkenazi* Jewish community. A single predominant mutation for each has been reported in Ashkenazi Jews: c.711+4A→T (IVS4 +4 A→T) in FACC[1] and BLMAsh in Bloom syndrome. Individuals affected by both syndromes are characterized by susceptibility for developing malignancies, and we questioned whether heterozygote carriers have a similarly increased risk.

Objectives: To estimate the cancer rate among FACC and BLMAsh carriers and their families over three previous generations in unselected Ashkenazi Jewish individuals.

Methods: We studied 42 FACC carriers, 28 BLMAsh carriers and 43 controls. The control subjects were Ashkenazi Jews participating in our prenatal genetic screening program who tested negative for FACC and BLMAsh. All subjects filled out a questionnaire regarding their own and a three-generation family history of cancer. The prevalence rates of cancer among relatives of FACC, BLMAsh and controls were computed and compared using the chi-square test.

Results: In 463 relatives of FACC carriers, 45 malignancies were reported (9.7%) including 10 breast (2.2%) and 13 colon cancers (2.8%). Among 326 relatives of BLMAsh carriers there were 30 malignancies (9.2%) including 7 breast (2.1%) and 4 colon cancers (1.2%). Controls consisted of 503 family members with 63 reported malignancies (12.5%) including 11 breast (2.2%) and 11 colon cancers (2.2%).

Conclusions: We found no significantly increased prevalence of malignancies among carriers in at least three generations compared to the controls.






* Jews of East European origin



[1] FACC = Fanconi anemia complementation group C


December 2006
R. Avisar, R. Friling, M. Snir, I. Avisar and D. Weinberger

Background: The prevalence and incidence of blindness in Israel appear to be comparable to other western countries. Comparisons are difficult because of different definitions of blindness, and the uniqueness of the Israeli registry for the blind.

Objective: To characterize the population who were registered as Blind in Israel in the years 1998–2003 and estimate the prevalence and incidence of blindness by age and causes of blindness.

Methods: A retrospective review of the annual report of the National Registry for the Blind in Israel between 1998 and 2003 identified 21,585 blind persons who received a certificate for blindness. Blind persons are identified by ophthalmologists throughout Israel and referred to the Registry of the Blind if they have a visual acuity of 3/60 or worse, or a visual field loss of < 20 degrees in their better eye. This report includes prevalence data on 21,585 persons enrolled in this review still alive and living in Israel in 2003. We estimated the prevalence rate of blindness nationwide and the incidence rate for each cause of blindness for every year.

Results: The main leading causes of blindness in Israel in 1998 were (in percent of the total number of newly registered patients): age-related macular degeneration (20.1%), glaucoma (13.8%), myopic maculopathy (12%), cataract (10.4%), diabetic retinopathy and maculopathy (10.1%), and optic atrophy (7.9%), and in 2003, 28%, 11.8%, 7.4%, 6.5%, 14.4% and 6.5% respectively.

Conclusions: The results indicate that the incidence of age-related macular degeneration, diabetic retinopathy and maculopathy in Israel is increasing, while that of glaucoma, myopic maculopthy, optic atrophy and cataract is decreasing.

June 2006
A. Ekka-Zohar, Y. Zitser-Gurevich, M. Mandel, I. Weiss-Salz, S. Nir, E. Mor, R. Nakash, H. Merhav, R. Bruck and E. Simchen
Background: There is a dearth of organs for liver transplantation in Israel. Enhancing our understanding of factors affecting graft survival in this country could help optimize the results of the transplant operation.




Objectives: To report 3 years national experience with orthotopic liver transplantation, and to evaluate patient and perioperative risk factors that could affect 1 year graft survival.

Methods: The study related to all 124 isolated adult liver transplantations performed in Israel between October 1997 and October 2000. Data were abstracted from the medical records. One-year graft survival was described using the Kaplan-Meier survival curve and three multivariate logistic regression models were performed: one with preoperative case-mix factors alone, and the other two with the addition of donor and operative factors respectively.

Results: Of the 124 liver transplantations performed, 32 failed (25.8%). The 1 year survival was lower than rates reported from both the United States and Europe, but the difference was not significant. Of the preoperative risk factors, recipient age ≥ 60 years, critical condition prior to surgery, high serum bilirubin and serum hemoglobin ≤ 10 g/dl were independently associated with graft failure, adjusting for all the other factors that entered the logistic regression equation. Extending the model to include donor and operative factors raised the C-statistic from 0.79 to 0.87. Donor age ≥ 40, cold ischemic time > 10 hours and a prolonged operation (> 10 hours) were the additional predictors for graft survival. A MELD score of over 18 was associated with a sixfold increased risk for graft failure (odds ratio = 6.5, P = 0.001).

Conclusions: Graft survival in Israel is slightly lower than that reported from the U.S. and Europe. Adding donor and operative factors to recipient characteristics significantly increased our understanding of 1 year survival of liver grafts.

July 2002
Amir Vardi, MD, Inbal Levin, RN, Haim Berkenstadt, MD, Ariel Hourvitz, MD, Arik Eisenkraft, MD, Amir Cohen, MD and Amital Ziv, MD

With chemical warfare becoming an imminent threat, medical systems need to be prepared to treat the resultant mass casualties. Medical preparedness should not be limited to the triage and logistics of mass casualties and first-line treatment, but should include knowledge and training covering the whole medical spectrum. In view of the unique characteristics of chemical warfare casualties the use of simulation-assisted medical training is highly appropriate. Our objective was to explore the potential of simulator-based teaching to train medical teams in the treatment of chemical warfare casualties. The training concept integrates several types of skill-training simulators, including high tech and low tech simulators as well as standardized simulated patients in a specialized simulated setting. The combined use of multi-simulation modalities makes this maverick program an excellent solution for the challenge of multidisciplinary training in the face of the looming chemical warfare threat.

June 2002
Nurit Rosenberg, PhD, Ariella Zivelin, PhD, Angela Chetrit, PhD, Rima Dardik, PhD, Nurit Kornbrot, MSc, Dov Freimark, MD and Aida Inbal, MD

Background: Platelet adhesion and aggregation are mediated by specific platelet membrane glycoproteins GPIa/IIa, GPIba, and GPIIb/IIIa, and are essential steps in thrombus formation and development of acute myocardial infarction.

Objective: To evaluate the risks exerted by each of the following polymorphisms: HPA-1a/b in GPIIIa; 807C/T in GPIa; and HPA-2a/b, VNTR and Kozak C/T in GPIba in young males with AMI[1]..

Methods: We conducted a case-control study of 100 young males with first AMI before the age of 53 and 119 healthy controls of similar age. All subjects were tested for the above polymorphisms.

Results: The allele frequencies of each of the platelet polymorphism were not significantly different between the young men with AMI and the controls. Smoking alone was associated with a 9.97-fold risk, and the presence of at least one metabolic risk factor resulted in a 2.57-fold risk of AMI.

Conclusion: These results indicate that platelet glycoproteins polymorphisms are not an independent risk factor for AMI.






[1] AMI = acute myocardial infarction


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