Israel Medical Association Journal

Background: Recently, cognitive assessments of patients with Fabry disease highlighted neurocognitive impairment using test batteries that are time and labor intensive.

Objectives: To introduce a user-friendly self-administered tool for cognitive testing in patients with Fabry disease.

Methods: We used a computerized system requiring about 1 hour for patient follow-up. All patients with enzymatic and/or molecular diagnosis of Fabry disease seen in our clinic underwent assessment with the Fabry-specific Mainz Severity Score Index (MSSI) with subscores (neurological, renal, cardiac, and general) and a Mindstreams neurocognitive battery for mild impairment, evaluating memory, executive function, attention, information processing, visual spatial processing, verbal function, and motor skills. A Global Cognitive Score (GCS) was also computed.

Results: Ten patients (3 males, 7 females) were tested (mean age 41.5, range 25–56 years). Males were younger, had moderate nephropathy and no cerebrovascular accident (CVA); their Mindstreams GCS was 85.6–107 points. Three females had mild-moderate (8,10,15 points) neurological MSSI subscores (two CVA); all females had Mindstreams GCS of 59–107.7 points. Below-average performance was prevalent, particularly in information processing and motor skills consistent with mild impairment. Average GCS in females (90.3 points) was lower than in males (98.2 points). For individual patients, performance was poorest in information processing (n=4), attention (n=2), motor skills (n=2), verbal function (n=1), and visual spatial processing (n=1).

Conclusions: MindStreams may simplify cognitive assessment monitoring in Fabry disease.
 

Background: Most studies on asbestos-related diseases describe the associations between exposure and disease and the factors influencing that association. It is recognized that there is a long latency period between exposure and disease, but the health status of affected individuals after long-term non-exposure is uncertain.

Objectives: To describe the changes in pulmonary function tests (PFTs) and computed tomographic imaging of the thorax over a 15 year period after cessation of exposure to asbestos in a cohort of Israeli power plant workers.

Methods: Israeli power plant workers whose PFTs and thoracic CT imaging between 1993 and 1998 revealed asbestos-related disease underwent a second clinical, functional and imaging evaluation up to 15 years later. The two sets of results were compared.

Results: Of the original cohort of 59 males, 35 were still alive, and 18 of them agreed to take part in the current study. The mean length of their exposure was 30 ± 10.06 years (range 7–43 years). Comparison of the initial and follow-up examination findings revealed a significant increase in calcification of the pleural plaques (from 37% to 66%, P = 0.008) and a deterioration in PFTs (P = 0.04). Of the 24 men who died, malignant disease was the cause of death in 53%, mostly in sites other than the respiratory system.

Conclusions: PFTs declined and CT findings worsened in subjects who were formerly exposed to asbestos and had not been exposed to it for over a decade. Continued monitoring of individuals exposed to asbestos, even decades after the cessation of exposure, is recommended.
 

Background: Since clinical signs of meningeal irritation in infants may be absent or misleading, the American Academy of Pediatrics in 1996 recommended that a lumbar puncture be performed in young children following a febrile seizure. Recent evidence supports a conservative approach in children who do not look ill at the time of the physician's assessment. Moreover, seizures as the presenting or sole symptom of bacterial meningitis are very rare.

Objectives: To assess physicians’ compliance with the Academy’s recommendations and to determine the incidence of meningitis among febrile seizure patients, including those who did not undergo the puncture.

Methods: We conducted a retrospective analysis of the number of punctures obtained in febrile seizure patients aged 6–24 months, focusing on the clinician's indications for performing the procedure and on the clinical course of children who did not undergo the puncture.

Results: Among 278 patients (84% simple febrile seizure), 52 (18.7%) underwent the procedure. It was performed in 38% of 45 complex febrile seizure cases and in 48% of 91 infants younger than 12 months of age. Aseptic meningitis occurred in two infants, both with post-ictal apathy. Bacterial meningitis was not found and in none of the patients who did not undergo the puncture was meningitis later diagnosed.

Conclusions: Compliance with the Academy’s recommendations was low, as emergency room physicians based their decision whether to obtain a lumbar puncture solely on clinical grounds. No case of bacterial meningitis was detected among 278 young children with a febrile seizure, including those who did not undergo the puncture.
 

Heart failure (HF) accompanied by renal failure, termed cardiorenal syndrome (CRS), encompasses both the development and worsening of renal insufficiency secondary to HF as well as the harmful effects of impaired renal function on the cardiovascular system, and remains a universal clinical challenge. CRS was recently classified into subtypes depending on the etiologic and chronologic interactions between cardiac and renal dysfunctions. The mechanisms underlying the CRS are multifactorial, including hemodynamic alterations, neurohormonal effects, and inflammatory components. However, despite enhanced understanding and awareness of CRS, further elucidation of the mechanisms involved and the appropriate treatment approaches are clearly warranted. CRS is a difficult condition to manage, as treatment to relieve congestive symptoms of HF is limited by a further decline in renal functions, itself a major independent predictor of long-term cardiac morbidity. In order to perform a proper clinical investigation and implement appropriate treatment that will minimize subsequent progression of heart and kidney injury, a comprehensive approach to these two pathologies is crucial. In the present review we discuss current theories behind the mechanistic evolution of the CRS as well as therapeutic issues regarding this multifaceted condition.
 

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.
 

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.
 

Background: Patient protection requires the provision of informed consent for participation in medical research. The MacArthur Competence Assessment Tool for Clinical Research (MacCAT-CR) is frequently used for screening the capacity of research subjects to consent to participate in research.

Objectives: To evaluate the utility of the Hebrew translation of the MacCAT-CR for the assessment of capacity of patients with chronic schizophrenia to provide informed consent to participate in clinical trials.

Methods: We evaluated the translated MacCAT-CR by comparing the capacity of patients with chronic schizophrenia to provide informed consent to participate in clinical trials. The following standardized neurocognitive assessment tools were used: Addenbrooke’s Cognitive Examination (ACE) and Frontal Assessment Battery (FAB), as well as the attending doctor’s assessment.

Results: Twenty-one patients participated. Mean MacCAT-CR score was12 ¡À 10.57 (range 0¨C32), mean FAB score was 9.9 ¡À 4.77 (range 1¨C18), mean ACE was 59.14 ¡À 16.6 (range 27¨C86) and mean doctor’s assessment was 5.24 ¡À 1.18 (range 3¨C7).

Conclusions: The Hebrew-version of the MacCAT-CR helped identify patients with the capacity to provide informed consent for participation in research. Patients with FAB scores ¡Ý 12 tended to score higher on the Hebrew-version of the MacCAT-CR, thus confirming the utility of the Hebrew version of the MacCAT-CR. During the screening process for clinical trials it may be practical to administer the concise FAB questionnaire, and then administer the MacCAT-CR only to those who scored ¡Ý 12 on the FAB.

Background: Human brucellosis is common in southern Israel among the semi-nomadic Bedouin, a population that consumes unpasteurized dairy products. Though camel milk ingestion is a known mechanism for brucellosis acquisition, only a few reports of sporadic cases have been published in the medical literature.

Objectives: To describe a local brucellosis outbreak in 15 extended Bedouin family members, following ingestion of infected camel milk.

Methods: Data regarding patient’s clinical manifestations, laboratory findings, treatment and outcome were collected from the hospital and the health fund clinics’ computerized database. Camel’s blood and milk were tested for Brucella serology and culture. Cases were defined by positive Rose Bengal test, symptoms correlating with brucellosis, and consumption of infected camel milk.

Results: Fifteen patients were diagnosed with acute brucellosis from March to June 2011. Sixty percent of cases had serum agglutination test titers of 1:160 or higher and 4/8 (50%) had positive blood culture for Brucella melitensis. Arthralgia and fever were the most consistent clinical manifestations. Blood and milk serology and milk culture taken from the female camel were positive for Brucella melitensis.

Conclusions: The treating physicians must consider the possibility of infected camel milk ingestion as the mode of infection, both in sporadic cases and in outbreaks of brucellosis.

Background: The pathogenesis of anemia associated with acute infection in children has not been well delineated.

Objectives: To characterize this type of anemia in children with acute infection, mainly in relation to iron status.

Methods: These two cross-sectional studies compared the prevalence and severity of anemia between outpatient febrile children and age-matched non-febrile controls.

Results: In part 1 of the study, children with acute infection (n=58) had a significant decrease in hemoglobin levels compared with 54 non-febrile controls. Mean corpuscular volume (MCV) did not change this association. Moreover, there was no significant difference in MCV, mean cell hemoglobin or red cell distribution width values between the two groups. Regarding part 2, of the 6534 blood counts obtained in community clinics, 229 were defined as “bacterial infection.” Chart survey confirmed this diagnosis. White blood cell level was significantly inversely associated with hemoglobin level (r = -0.36, P < 0.0001). Anemia was significantly more prevalent among children with bacterial infection compared to those without: 21.4% vs. 14.1% (P = 0.002). Mean values of iron status parameters were all within normal limits.

Conclusions: Acute illness is associated with anemia. The pathogenesis of this anemia does not appear to be associated with disruption of iron metabolism.