Israel Medical Association Journal

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced.

Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs.

Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.
 

Background: Chlamydia pneumoniae has previously been associated with higher prevalence of valvular and cardiac calcifications.

Objectives: To investigate a possible association of seropositivity for C. pneumoniae and the presence of cardiac calcifications (mitral annular or aortic root calcification, and aortic valve sclerosis).

Methods: We retrospectively analyzed serological data (immunoglobulin G TWAR antibodies) from the AZACS trial (Azithromycin in Acute Coronary Syndromes), and correlated the serological findings according to titer levels with the presence of cardiac calcifications as detected by transthoracic echocardiography.

Results: In 271 patients, age 69 ± 13 years, who underwent both serological and echocardiographic evaluation, we found no significant association between the "calcification sum score" (on a scale of 0–3) in seropositive compared to seronegative patients (1.56 ± 1.15 vs.1.35 ± 1.15, respectively, P = 0.26). The median "calcification sum score" was 1 (interquartile range 0–3) for the seronegative group, and 2 (interquartile range 0–3) for the seropositive group (P = 0.2757). In addition, we did not find a significant correlation of any of the individual sites of cardiac calcification and Chlamydia pneumoniae seropositivity.

Conclusion: Our findings suggest that past C. pneumoniae infection may not be associated with the pathogenesis of valvular and cardiac calcifications.
 

Background: Iron deficiency is the most prevalent anemia in infants and is known to be a major public health problem.

Objective: To examine mothers’ knowledge and adherence with recommendations regarding iron supplementation and assess their association with the prevalence of anemia in infants.

Methods: Data on 101 infants and mothers of infants born between November 2000 and February 2001, living in a small Jewish town in southern Israel, were collected using a structured questionnaire and the infants’ medical charts. Anemia was defined as serum hemoglobin less than 11 g/dl. Independent variables include socioeconomic data, mothers' knowledge, and adherence to treatment as reported by them. Chi-square test was used to analyze categorical variables, t-test was used for continuous variables, and hemoglobin was tested at 9–12 months of age.

Results: Of the 101 infants in the study, 47% had serum hemoglobin under 11 g/dl. Of the mothers, 62 (62%) were partially or completely non-compliant with iron supplementation; 34 (34%) had low level of knowledge regarding anemia. Multivariate logistic regression analysis revealed a significant and inverse relationship between the presence of anemia and the level of maternal knowledge (odds ratio = 5.6, 95% confidence interval 1.6–9.7; P = 0.006) and reported adherence with iron supplementation (3.2, 1.1–9.7; P = 0.04) after controlling for confounding factors: maternal education, socioeconomic status, breastfeeding, and meat consumption.

Conclusions: The presence of iron deficiency anemia in infants in southern Israel is inversely affected by the level of maternal knowledge of anemia and adherence to iron supplementation. Low level of knowledge is also directly related to low adherence.
 

Background: Head injuries, especially in young children, are frequent and may cause long-lasting impairments.

Objectives: To investigate the outcome of head and other injuries caused by diverse mechanisms and of varied severity.

Methods: The population consisted of Jews and Arabs (n=792), aged 0–17 years old, hospitalized for injuries in six hospitals in Israel. Caregivers were interviewed during hospitalization regarding circumstances of the injury and sociodemographic variables. Information on injury mechanism, profile and severity, and length of hospitalization was gathered from the medical files. Five months post-injury the caregivers were interviewed by phone regarding physical limitations and stress symptoms.

 Results: Head injuries occurred in 60% of the children, and of these, 22.2% suffered traumatic brain injury with loss of consciousness (type 1). Among the rest, 22% of Jewish children and 28% of Arab children remained with at least one activity limitation, and no statistically significant differences were found among those with head or other injuries. The odds ratio for at least two stress symptoms was higher for children involved in transport-related injuries (OR[1] 2.70, 95% confidence interval 1.38–5.28) than for other mechanisms, controlling for injury profile. No association was found between stress symptoms and injury severity.

Conclusions: Most children had recovered by 5 months after the injury. Residual activity limitations were no different between those with head or with other injuries. Stress symptoms were related to transport-related injuries, but not to the presence of TBI[2] or injury severity.

Background: It is not entirely clear when and how steroids should be used to treat trichinellosis.

Objectives: To describe the course of consecutive patients with trichinellosis treated with antihelminthic drugs with and without the addition of prednisone.

Methods: We extracted data from the hospital records of 30 patients hospitalized for trichinellosis contracted after eating poorly cooked pork that came from two pigs killed in the Golan Heights, and contacted them for follow-up 5–6 weeks and 6 months after hospital discharge.

Results: All the patients who attended a party and ingested the infected pork (100% attack rate) were hospitalized after 2–16 days (median 9 days); 29 were symptomatic and 1 patient without symptoms had creatine phosphokinase levels 17.9 times above the upper limit of normal. Twelve of 23 patients (52%) treated with antihelminthic drugs without prednisone were rehospitalized with worsening fever, increased peripheral blood eosinophil counts, but decreasing CPK[1] values. These patients and another seven at the time of admission were treated with prednisone 40 mg/day for 5 days in addition to antihelminthic drugs for at least 14 days. All became asymptomatic within 24 hours and were asymptomatic 6 weeks and 6 months later.

Conclusions: Worsening symptoms in patients treated with antihelminthic drugs alone is common. A short course of prednisone is safe and alleviates symptoms due to tissue larvae in patients with trichinellosis.

Background: The epidemiology of bacteremic febrile neutropenia differs between locations and constitutes the basis for selection of empiric antibiotic therapy for febrile neutropenia.

Objectives: To describe the epidemiology of bacteremia among patients with neutropenia in a single center in Israel.

Methods: We conducted a prospective data collection on all patients with neutropenia (< 500/mm³) and clinically significant bacteremia or fungemia during the period 1988–2004.

Results: Among adults (462 episodes) the most common bloodstream isolate was Esherichia coli. Gram-negative bacteria predominated throughout the study period and the ratio between Gram-negative and Gram-positive bacteremia increased from 1.7 to 2.3 throughout the study period. Among children (752 episodes), the ratio between Gram-negative and Gram-positive bacteremia reversed from 1.2 to 0.7, due to increasing prevalence of coagulase-negative staphylcoccal bacteremia. Both among adults and children, the length of hospital stay prior to bacteremia had a major impact on the pathogens causing bacteremia and their antibiotic susceptibilities. The prevalence of E. coli decreased with time in hospital, while the rates of Pseudomonas aeruginosa, Klebsiella pneumoniae, Enterobacter spp., Acinetobacter spp., Enterococcus spp. and Candida spp. increased. Resistance to broad-spectrum empiric monotherapy in our center was observed in > 40% of Gram-negative bacteria when bacteremia was acquired after 14 days in hospital.
Conclusions: Improved infection-control measures for neutropenic cancer patients in our center are needed. Empiric antibiotic treatment should be tailored to patients’ risk for multidrug-resistant organisms. Individual hospitals should monitor infection epidemiology among cancer patients to guide empiric antibiotic treatment

Background: The extent of medical and financial problems of polypharmacy in the elderly is disturbing, particularly in nursing homes and nursing departments.

Objectives: To improve drug therapy and minimize drug intake in nursing departments.

Methods: We introduced a geriatric-palliative approach and methodology to combat the problem of polypharmacy. The study group comprised 119 disabled patients in six geriatric nursing departments, and the control group 71 patients of comparable age, gender and co-morbidities patients in the same wards. After 12 months, we assessed whether any change in medications affected the death rate, referrals to acute care facility and costs.

Results: A total of 332 different drugs were discontinued in 119 patients (average of 2.8 drugs per patient) and was not associated with significant adverse effects. The overall rate of drug discontinuation failure was 18% of all patients and 10% of all drugs. The 1 year mortality rate was 45% in the control group but only 21% in the study group (P < 0.001, chi-square test). The patients’ annual referral rate to acute care facilities was 30% in the control group but only 11.8% in the study group (P < 0.002). The intervention was associated with a substantial decrease in the cost of drugs.

Conclusions: Application of the geriatric-palliative methodology in the disabled elderly enables simultaneous discontinuation of several medications and yields a number of benefits: reduction in mortality rates and referrals to acute care facilities, lower costs, and improved quality of living.

Background: The management of aspirin therapy before an invasive procedure poses a frequent clinical dilemma due to uncertainty regarding b[AS1] leeding versus thromboembolic risks associated with continuation or withdrawal of the drug. There is no evidence-based data to refer to.

Objectives: To assess the opinions of internal medicine physicians regarding aspirin therapy prior to an invasive procedure.

Methods: A questionnaire presenting nine hypothetical cases with different combinations of bleeding and thromboembolic risk was given to physicians in an Internal Medicine Division during a personal interview. For each case the participants had to choose between withdrawal of aspirin prior to an invasive procedure, continuation of aspirin, or substitution of low molecular weight heparin for aspirin. Results: Sixty-one physicians participated in the survey. For a patient with low thromboembolic risk, 77% (95% confidence interval 65.3–86.3%), 95% (87.2–98.7%) and 97% (89.6–99.5%) of physicians elected to discontinue aspirin prior to a low, intermediate or high bleeding risk procedure, respectively. For intermediate risk patients, 23% (95% CI[1] 13.7–34.7%), 59% (46.4–70.8%) and 74% (61.7–83.6%) would discontinue aspirin prior to a low, intermediate or high risk procedure, and 5% (95% CI 1.3–12.8%), 23% (13.7–34.7%) and 18% (9.9–29.2%) would substitute LMWH[2] for aspirin. For a patient with high thromboembolic risk, 1.6% (95% CI 0.08–7.8%), 11.5% (5.2–21.4%) and 18% (9.9–29.2%) recommended discontinuing aspirin prior to a low, intermediate or high risk procedure, respectively. In these situations, 18% (95% CI 9.9–29.2%), 53% (40.0–64.7%) and 57% (44.8–69.3%), respectively, would substitute LMWH for aspirin.

Conclusions: The results of the current investigation may help practicing physicians to decide whether to discontinue aspirin therapy prior to invasive procedures. The possible use of LMWH to replace aspirin as suggested here should be further evaluated in a controlled clinical study.