Israel Medical Association Journal

Objectives: To evaluate the upper extremity injury pattern of attacks on civilian targets, comparing bomb explosion injuries to gunshot injuries and their functional recovery using standard outcome measures.

Methods: Of 157 patients admitted to the hospital between 2000 and 2004, 72 (46%) sustained explosion injuries and 85 (54%) gunshot injuries. The trauma registry files were reviewed and the patients completed the Disabilities of Arm, Shoulder and Hand Questionnaire (DASH) and Short Form-12 (SF-12) after a minimum period of 1 year.

Results: Of the 157 patients, 72 (46%) had blast injuries and 85 (54%) had shooting injuries. The blast casualties had higher Injury Severity Scores (47% over a score of 16 vs. 22%, P = 0.02) and higher percent of patients treated in intensive care units (47% vs. 28%, P = 0.02). Although the Abbreviated Injury Scale score of the upper extremity injury was similar in the two groups, the blast casualties were found to have more bilateral and complex soft tissue injuries and were treated surgically more often. No difference was found in the SF-12 or DASH scores between the groups at follow up.  

Conclusions: The casualties with upper extremity blast injuries were more severely injured and sustained more bilateral and complex soft tissue injuries to the upper extremity. However, the rating of the local injury to the isolated limb is similar, as was the subjective functional recovery.

Background: Transthyretin (TTR)-associated familial amyloid polyneuropathy (FAP) is an autosomal dominant multisystem disease with neurological and extra-neurological manifestations. It is caused by various mutations in the TTR gene leading to the formation of insoluble amyloid.

Objectives: To describe the clinical and genetic findings in patients with TTR-associated FAP in Israel.

Methods: We evaluated eight patients clinically and genetically during the years 2006 to 2011.

Results: At onset, all the patients exhibited sensory loss of the lower and upper limbs, five patients experienced muscle pain, and one patient had lower limb weakness. Five patients had autonomic nervous system manifestations, and four demonstrated evidence of amyloid cardiomyopathy. Nerve conduction studies showed sensorimotor axonal neuropathy in all patients. Sural nerve biopsies were obtained in five patients; only three biopsies revealed amyloid deposit. In four patients of Yemenite descent, genetic analysis of the TTR gene demonstrated ser77tyr mutation. One patient of Tunisian descent and one Ashkenazi patient harbored the val30met mutation. One patient of Iranian descent showed val32ala mutation, and another Ashkenazi patient showed phe33leu mutation.

Conclusions: TTR-associated FAP is a progressive and fatal disease that exists in the Israeli population and is unproportionally common among Yemenite Jews. This disease may be under-diagnosed and should be considered in the differential diagnosis of any patient with rapidly progressive neuropathy, especially with autonomic involvement or extra-neural features. The absence of amyloid in nerve biopsy should not rule out the diagnosis.  
 

The DRESS syndrome (drug reaction with eosinophilia and systemic symptoms), also known as DIHS (drug-induced hypersensitivity syndrome), presents clinically as an extensive mucocutaneous rash, accompanied by fever, lymphadenopathy, hepatitis, hematologic abnormalities with eosinophilia and atypical lymphocytes, and may involve other organs with eosinophilic infiltration, producing damage in several systems, especially kidney, heart, lungs, and pancreas. The pathogenesis is related to specific drugs (especially the aromatic anticonvulsants), altered immune response, sequential reactivation of herpes virus, and association with some HLA alleles. Glucocorticoids are the basis for the treatment of the syndrome, which may be given with intravenous immunoglobulin and, in selected cases, ganciclovir. This article reviews current concepts regarding the interaction of drugs, viruses and immune responses during this complex adverse-drug reaction.