The use of the Istanbul Protocol in Israel: Insights at the reception of the revised (2022) version.

Health professionals and lawyers in Israel have used the Istanbul Protocol (IP), the internationally accepted protocol for documenting torture and ill-treatment, for many years (Abu Akar et al., 2014; Weishut, 2022). A complete IP report requires substantial effort and investment of -mostly pro bono- experts, while the IP interview on which it is based is often an emotionally burdensome experience for clients. This paper presents insights about the use of the IP in Israel, as collected by a group of experts in the documentation of torture and ill-treatment, at the reception of the revised (2022) version.

Recognition and treatment of law enforcement violence against detainees and prisoners: A survey among Israeli physicians and medical students.

INTRODUCTION: Physicians regularly encounter victims of violence. Although some at-risk groups are increasingly recognized as such, the risks faced by prisoners and detainees are often overlooked. The scope of violence against them is unknown and their treatment is often hampered by unique social and institutional impediments. This article reviews the need for improved recognition and protection of such patients and the associated obstacles, while presenting information on the experience, knowledge and attitudes of physicians in Israel regarding the maltreatment of prisoners and detainees. METHODS: We sent a questionnaire to physicians and medical students in Israel to enquire about their knowledge concerning examination and treatment of persons under police custody who appear to be victims of violence as well as their attitude concerning torture. RESULTS: We received answers from 443 physicians and 114 medical students. Most physicians would correctly examine and document the injuries, but only 59% would report their suspicions of violence to the Ministry of Health. Though 60% of physicians objected in principle to the use of torture, a majority endorsed the use of physical and psychological pressure during interrogation. Moreover, 29% of physicians thought it is permissible for physicians to examine detainees and verify their health so that torture can begin or continue. DISCUSSION: Our study shows that there is a need for development and implementation of treatment and reporting protocols as well as educational programs concerning the ethical and legal requirements of physicians towards detainees and prisoners in Israel. Limitations of our study are discussed.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

IMPORTANCE: Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially responsive to betaine therapy. OBSERVATIONS: Both pairs of siblings presented with a similar combination of progressive spastic paraparesis and polyneuropathy, variably associated with behavioral changes, cognitive impairment, psychosis, seizures, and leukoencephalopathy, beginning between the ages of 29 and 50 years. By the time of diagnosis a decade later, 3 patients were ambulatory and 1 was bedridden. Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutation in the other family. Treatment with betaine produced a rapid decline of homocysteine by 50% to 70% in all 4 patients and, over 9 to 15 years, improved the conditions of the 3 ambulatory patients. CONCLUSIONS AND RELEVANCE: Although severe MTHFR deficiency is a rare cause of complicated spastic paraparesis in adults, it should be considered in select patients because of the potential therapeutic benefit of betaine supplementation.

The Istanbul protocol (manual on the effective investigation and documentation of torture and other cruel, inhuman or degrading treatment or punishment): implementation and education in Israel.

All victims of violence encountered in our emergency rooms and clinics need to be recognized and documented as such. Although there has been progress in the implementation of rules concerning (domestic) violence against women, children and the elderly, the management of cases where patients have been subjected to violence while under the custody of legal enforcement agencies, or patients who have been victims of torture, is still not sufficiently standardized. We describe the Istanbul Protocol of the United Nations, an excellent tool that can help physicians and health professionals recognize and treat cases of torture or institutional violence.

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced ß-glucocerebrosidase activity.

Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate-independent trafficking of ß-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We report a family with myoclonic epilepsy, ataxia and skeletal muscle atrophy but without cognitive impairment or overt renal disease. A novel SCARB2 mutation was indicated by a striking discrepancy between lymphocyte and fibroblast GC activity in the proband evaluated for possible Gaucher disease. Our findings expand the genetic and phenotypic diversity of AMRF and suggest that low GC activity may present an important biochemical clue to the diagnosis of AMRF.

Phenotype in patients with Gaucher disease and Parkinson disease.

BACKGROUND: Previous reports have shown an increased risk for Parkinson disease (PD) among type 1 Gaucher disease (GD) patients. However, the number of the reported cases of GD/PD is small and it is unknown whether certain GD phenotypes are associated with an increased PD risk. OBJECTIVE: To present GD and PD characteristics of adults affected by both diseases from a large Israeli GD clinic, and assess whether certain GD characteristics are associated with a higher risk for PD. METHODS: Medical files of patients >18years between 1990 and 2010 were reviewed for PD signs or symptoms. Available patients with PD underwent an additional neurological examination. Demographic and GD characteristics were compared between GD patients with and without PD using t-test and Fisher exact. Kaplan-Meier survival curves were used to estimate age-specific risk for PD among males and females. Age-specific risk for PD was compared between males and females using Cox Hazard ratio model. RESULTS: 510 type 1 GD adults (233 males; 45.7%), were evaluated. 11 PD patients were identified (2.2%). Among those with GD/PD cognitive impairment was common (7/11). Two patients underwent successful deep brain stimulation (DBS). PD diagnosis was associated with male gender (81.8% versus 44.9% male, p=0.027) and older age (mean age, PD=62.8, non-PD=47.1, p=0.004). GD phenotype and severity did not differ between the two groups, including mean Zimran Severity Score index (7.7 versus 8.3), percent splenectomized (15.8% versus 27.3%), history of avascular necrosis (13.0% versus 27.3%) and percent ever treated with enzyme replacement (49.4% versus 45.5%). CONCLUSION: Male gender and older age are risk factors for PD among GD patients, but GD severity is not associated with increased risk for PD. Further research is required to assess which GD patients are at a higher risk for PD, and why.

No symptomatic intracerebral hemorrhage after cardiac surgery: a 14-year retrospective study.

BACKGROUND: In the presence of new neurological findings occurring after cardiac surgery, the clinical question is whether to exclude symptomatic intracerebral hemorrhage (ICH), particularly in the context of routine postoperative anticoagulation treatment. METHODS: This is a retrospective 14-year study including 5,275 patients who underwent cardiovascular surgery. The control cohort included all patients with acute cerebrovascular accidents hospitalized in 2 general hospitals in Jerusalem during a 2-month period in 2007 (part of a national survey). RESULTS: After cardiac surgery, 78 patients developed ischemic strokes, mostly of large-vessel etiology. These ischemic strokes occurred more often in patients who underwent combined operations (22/647 = 3.4% vs. 45/3,489 = 1.3%; p = 0.0004). ICH was found in 6% of all acute cerebrovascular accidents in the general survey, but was absent after cardiac surgery (5 vs. 0; p = 0.02). CONCLUSIONS: Despite hypertension as a main risk factor and the administration of postoperative anticoagulation, we found that symptomatic ICH did not occur after cardiac surgery.

The possible risk for strokes complicating cardiac surgery in patients with intraoperative hypothermia.

BACKGROUND: The effect of hypothermia as a possible neuroprotective tool on the outcome of cardiac surgery is still controversial. METHODS: We retrospectively assessed all patients who underwent cardiac surgery within a 14-year period and compared patients with and without postoperative stroke. RESULTS: Stroke occurred more frequently in patients who underwent valve repair/replacement combined with coronary artery bypass grafting (CABG) than in patients who had CABG alone (p = 0.0002). All strokes (1.4%) were ischemic and mostly of large-vessel etiology. All patients with stroke had intraoperative minimal temperature <34°C. More patients in this group than in the group without stroke had an intraoperative minimal temperature <30°C (p = 0.01). Stepwise multivariate analysis of all pre- and intraoperative parameters identified significant risk factors for stroke: hypertension, diabetes mellitus and previous stroke as preoperative risk factors, but only lower minimal temperature as a significant intraoperative risk factor (p = 0.03; odds ratio 1.080/1°C, 95% confidence interval 1.004-1.152). The mean intraoperative temperature was 28 ± 4°C in patients who developed stroke and 30 ± 3°C in patients without stroke. CONCLUSIONS: Intraoperative hypothermia around 28°C might be harmful and associated with increased risk for postsurgical stroke.

Reaction to intravenous contrast media mimicking intracerebral hemorrhage after percutaneous coronary intervention.

BACKGROUND: Cerebroavascular complications after percutaneous coronary interventions, although rare, need immediate diagnostic and treatment in order to minimize the possible sequelae. CASE REPORT: At the end of a percutaneous coronary intervention a 63-year old man, long standing migraineur, developed severe headache, confusion, nausea, photophobia, slow speech and left hemiparesis. In the presence of hyperdensity of the right parietal area in the brain CT, he was suspected to suffer from intracerebral hemorrhage, and treatment with platelet glycoprotein IIb/IIIa inhibitors was immediately stopped. Revision of the CT and disappearance of the clinical and radiological signs were concordant with the diagnosis of intraparenchymal extravasation of the contrast media. CONCLUSIONS: We report a very rare complication of contrast media after coronary angiography with extravasation unilaterally in the anterior circulation. Recognition of this complication can avoid unnecessary investigations.

Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy.

The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum of its clinical manifestations is still not known. We report a 3-generation family of Jewish-Yemenite origin with Tyr77 FAP presenting with atypical features. The affected individuals had sensorimotor and autonomic neuropathy and cardiomyopathy accompanied by prominent dysphagia, hearing loss and asymptomatic carpal tunnel syndrome. Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression.

Copolymer 1 (glatiramer acetate) in relapsing forms of multiple sclerosis: open multicenter study of alternate-day administration.

Daily 20-mg doses of Copolymer 1 have been shown to significantly decrease the relapse rate in patients with multiple sclerosis (MS). In the present open-label study, patients with relapsing MS were treated with the same dose of Copolymer 1 administered on alternate days. Sixty-eight patients were recruited: fifty-one and forty-one patients completed 1 and 2 years of treatment respectively. The relapse rate during the 2 years of treatment decreased by 80.8% compared with the 2 years before treatment (means, 0.56 +/- 1.02 versus 2.91 +/- 1.10, respectively; p < 0.0001). This lower rate is comparable with that obtained with daily open-label administration previously reported by the authors. The score on the Expanded Disability Status Scale did not differ from that at baseline after the first year of treatment, although it increased somewhat at the end of the second year (baseline = 2.72 +/- 1.55, 1 year = 2.71 +/- 1.59, 2 years = 2.97 +/- 1.80; p < 0.008). The drug was very well tolerated. This preliminary open-label study suggests that alternate-day therapy has beneficial effects and is well tolerated, comparing favorably with the effects of daily injections of Copolymer 1 in patients with relapsing MS. These results should be confirmed by randomized double-blind examinations.