Israel Medical Association Journal

Background: Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.

Objectives: To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2.

Methods: We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008.

Results: All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder, consistent with an autosomal dominant trait.

Conclusions: DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.
 

Background: Hepatotoxicity due to intravenous amiodarone (HIVAD) is a rare side effect with a distinct pattern of enzyme disturbances compared to liver damage from oral amiodarone. Intravenous amiodarone is administered for acute arrhythmias often causing heart failure. The enzyme abnormalities and clinical setting are very similar to that of ischemic hepatitis, a far more common condition.

Objectives:  To ascertain if acute HIVAD exists as a separate entity or whether reported cases may be explained by ischemic hepatitis.

Methods: In this case-control retrospective study the files of hospitalized patients with markedly elevated aminotransferases were reviewed for the diagnoses of HIVAD or ischemic hepatitis. Medline was searched for published cases of HIVAD. Pooled data of all patients with HIVAD were compared to a control group with ischemic hepatitis.

Results: There were no significant differences in the clinical characteristics, laboratory results or histological findings between HIVAD and ischemic hepatitis patients.

Conclusions: In our opinion, there is currently insufficient data to support the existence of distinct HIVAD, and ischemic hepatitis is a more probable diagnosis in most reported cases. Withdrawing amiodarone because of assumed hepatic damage could deprive patients of a life-saving therapy.
 

Intussuception is the most common cause of intestinal obstruction in early childhood. The cause of most intussusceptions is unknown but it can complicate the course of Henoch-Schonlein purpura (HSP) as a result of the vasculitic process. Familial Mediterranean fever (FMF), a most common disease in Israel is also associated with HSP. In a few patients, particularly in children, HSP has been reported to precede the diagnosis of FMF. We describe two patients with an unusual clinical course of severe abdominal pain as a result of intusucception. The correlation between intusucception, HSP and FMF are discussed.
 

Background: Enteral nutrition in the critically ill patient is often complicated by gastrointestinal intolerance, manifested by a large gastric residual volume. The frequency of GRV[1] assessment and the intolerant level above which feeding is stopped is controversial.

Objectives: To evaluate a novel approach to EN[2] by allowing high GRV and once-daily assessment that was correlated with the paracetamol absorption test.

Methods: We conducted a pilot prospective study in an 18 bed general intensive care unit. The study group comprised 52 consecutive critically ill mechanically ventilated patients. Enteral nutrition was started at full delivery rate. Once-daily assessment of GRV with three consecutively repeated threshold volumes of 500 ml was performed before stopping EN. The paracetamol absorption test was performed and correlated to GRV. Patients were divided into two groups: low GRV (< 500 ml), and high GRV (at least one measurement of GRV > 500 ml). Clinical outcome included maximal calories delivered, incidence of pneumonia, ICU[3] length of stay, and ICU and hospital mortality.

Results: There were 4 patients (9.5%) with ventilator-associated pneumonia in the low GRV group and 3 (30%) in the high GRV group (P = 0.12). GRV was inversely correlated to paracetamol absorption; however, neither GRV nor paracetamol absorption was associated with the development of pneumonia. Both groups had similar ICU length of stay (11.0 ± 8.2 vs. 13.8 ± 14.4 days, P = 0.41), and similar ICU (21% vs. 40%, P = 0.24) and hospital mortality (35% vs. 40%, P = 1.0).

Conclusions: In critically ill mechanically ventilated patients, allowing larger gastric residual volumes, measured once daily, enables enteral feeding with fewer interruptions which results in high calorie intake without significant complications or side effects.

Background: Trans-aortic pressure gradient in patients with aortic stenosis and left ventricular systolic dysfunction is typically low but occasionally high.

Objectives: To examine the distribution of trans-aortic PG[1] in patients with severe AS[2] and severe LV[3] dysfunction and compare the clinical and echocardiographic characteristics and outcome of patients with high versus low PG.

Methods: Using the echocardiographic laboratory database at our institution, 72 patients with severe AS (aortic valve area ≤ 1.0 cm²) and severe LV dysfunction (LV ejection fraction ≤ 30%) were identified. The characteristics and outcome of these patients were compared.

Results: PG was high (mean PG ≥ 35 mmHg) in 32 patients (44.4%) and low (< 35 mmHg) in 40 (55.6%). Aortic valve area was slightly smaller in patients with high PG (0.63 ± 0.15 vs. 0.75 ± 0.16 cm² in patients with low PG, P = 0.003), and LV ejection fraction was slightly higher in patients with high PG (26 ± 5 vs. 22 ± 5% in patients with low PG, P = 0.005). During a median follow-up period of 9 months 14 patients (19%) underwent aortic valve replacement and 46 patients (64%) died. Aortic valve replacement was associated with lower mortality (age and gender-adjusted hazard ratio 0.19, 95% confidence interval 0.05–0.82), whereas trans-aortic PG was not (P = 0.41).

Conclusions: A large proportion of patients with severe AS have relatively high trans-aortic PG despite severe LV dysfunction, a finding partially related to more severe AS and better LV function. Trans-aortic PG is not related to outcome in these patients.

Background: Health care workers bear the risk of both contracting influenza from patients and transmitting it to them. Although influenza vaccine is the most effective and safest public health measure against influenza and its complications, and despite recommendations that HCWs[1] should be vaccinated, influenza vaccination coverage among them remains low.

Objectives: To characterize influenza vaccination coverage and its determinants among employees in an Arab hospital in Israel.

Methods: An anonymous, self-administered questionnaire was distributed among employees involved in patient care in the winter of 2004–2005 at Nazareth Hospital in Israel. The questionnaire included items related to health demographic characteristics, health behaviors and attitudes, knowledge and attitude concerning influenza vaccination, and whether the respondent had received the influenza vaccine during the previous winter or any other winter.

Results: The overall rate of questionnaire return was 66%; 256 employees participated in the study. The immunization coverage rate was 16.4%, similar to that reported for other hospitals in Israel. Logistic regression analysis demonstrated a significant association only between influenza vaccination coverage and the presence of chronic illness and influenza vaccination in the past.

Conclusions: Influenza vaccination coverage among Nazareth Hospital health care workers was low. They did not view themselves as different to the general population with regard to vaccination. An intervention program was launched after the study period, aimed at increasing the knowledge on the efficacy and safety of the vaccine, stressing the importance of vaccinating HCWs, and administering the vaccine at the workplace. The program raised the vaccination coverage to 50%.

Background: Early-onset neonatal sepsis is a major cause of morbidity and mortality among newborn infants.

Objectives: To determine the incidence, type of pathogens and resistance to antibiotics among newborns with early-onset neonatal sepsis, and to identify the risk factors predisposing infants to resistant pathogens in order to reevaluate antibiotic regimens appropriate for resistant bacteria in these high risk neonates.

Methods: We retrospectively studied maternal and neonatal variables of 73 term and near-term infants and 30 preterm infants, born over a period of 10.5 years and exhibiting early-onset neonatal sepsis (positive blood cultures in the first 72 hours of life).

Results: Predominant pathogens in term and near-term infants were gram-positive compared with gram-negative organisms (mostly Escherichia coli) in preterm infants. Mothers of infants with antibiotic-resistant organisms were more likely to have prolonged rupture of membranes and prolonged hospitalization before delivery and to be treated with antibiotics. No trends towards more resistant strains of pathogens were recorded over the 10.5 years of the study period.

Conclusions: Early-onset neonatal sepsis in term infants differs in bacterial species from that in preterm infants, with predominantly gram-positive organisms in term and near-term infants and gram-negative organisms in preterms. Rates of bacterial resistance to the combination of ampicillin and gentamicin, though higher among infants born to mothers with prolonged hospitalization who had been treated with antibiotics, still remained very low in our department. Thus, it seems that our classic antibiotic regimen is still appropriate for both term and preterm newborns.