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: There is a wide treatment gap between evidence-based guidelines and their implementation in primary care.

Objective: To evaluate the extent to which physicians "literally" follow guidelines for secondary prevention of dyslipidemia and the extent to which they practice "substitute" therapeutic measures.

Methods: We performed a post hoc analysis of data collected in a prospective cluster randomized trial. The participants were 130 primary care physicians treating 7745 patients requiring secondary prevention of dyslipidemia. The outcome measure was physician "literal" adherence or "substitute" adherence. We used logistic regressions to evaluate the effect of various clinical situations on “literal” and “substitute” adherence.

Results: "Literal" adherence was modest for ordering a lipoprotein profile (35.1%) and for pharmacotherapy initiations (26.0%), but rather poor for drug up-titrations (16.1%) and for referrals for specialist consultation (3.8%). In contrast, many physicians opted for "substitute" adherence for up-titrations (75.9%) and referrals for consultation (78.7%). Physicians tended to follow the guidelines “literally” in simple clinical situations (such as the need for lipid screening) but to use "substitute" measures in more complex cases (when dose up-titration or metabolic consultation was required). Most substitute actions were less intense than the actions recommended by the guidelines.

Conclusions: Physicians often do not blindly follow guidelines, but rather evaluate their adequacy for a particular patient and adjust the treatment according to their assessment. We suggest that clinical management be evaluated in a broader sense than strict guideline adherence, which may underestimate physicians' efforts.
 

Pulmonary epithelioid hemangioendothelioma (PEH), previously known as "intravascular bronchoalveolar tumor," is a rare vascular malignancy with an unpredictable prognosis. Treatment can vary from observation in asymptomatic patients to surgery in patients with resectable disease or chemotherapy in patients with disseminated disease. This report describes the clinical, radiological and pathological features of three cases of PEH and a review of the current literature.
 

Background: Little is known of the risk factor disparities in first stroke among Jewish and Arab patients undergoing rehabilitation in Israel.

Objectives: To investigate the age, gender and risk factor disparities in first stroke among Jewish (immigrant and non-immigrant) and Arab patients undergoing rehabilitation and to compare the prevalence and odds ratio of stroke risk factors in these patients.

Methods: The database of the Department of Neurological Rehabilitation C at Loewenstein Rehabilitation Center was used to investigate first ischemic and hemorrhagic stroke patients admitted for hospital rehabilitation over a 15 year period, January 1993 to December 2008. Particular attention was paid to age, gender and risk factor disparities.

Results: The 2000 patients with first stroke who were included in the study were grouped as Jewish (immigrant and non-immigrant) and Arab (237 Arabs, 370 non-immigrant Jews and 1393 immigrant Jews). A high percentage of Arab patients were found to have hypertension and diabetes mellitus, while a high percentage of Jewish immigrants had stenosis of the internal carotid artery.

Conclusions: The study demonstrated some differences in the effect of risk factors between the groups. It may be important to address such differences when developing stroke preventative strategies in this population of Jewish and Arab stroke survivors in Israel.
 

Background: An outbreak of respiratory illness caused by a novel swine-origin influenza virus (influenza A/H1N1 2009) that began in Mexico was declared a global pandemic by the World Health Organization in June 2009. The pandemic affected many countries, including Israel.

Objectives: To compare the course of chest radiographic and computed tomography findings in patients who survived and those who died following admission to the intensive care unit (ICU) or intubation due to severe laboratory-confirmed swine-origin influenza A/H1N1 2009.

Methods: We retrospectively reviewed the patient records (267 radiographs, 8 CTs) of 22 patients (10 males, 12 females) aged 3.5–66 years (median 34) with confirmed influenza A/H1N1 2009, admitted to the ICU and/or intubated in five major Israeli medical centers during the period July–November 2009. We recorded demographic, clinical, and imaging findings –including pattern of opacification, extent, laterality, distribution, zone of findings, and presence/absence of nodular opacities– at initial radiography and during the course of disease, and compared the findings of survivors and non-survivors. Statistical significance was calculated using the Wilcoxon (continuous variables) and Fisher's exact tests (categorical variables).

Results: The most common findings on the initial chest radiography were airspace opacities, which were multifocal in 17patients (77%) and bilateral in 16 (73%), in the lower or lower and middle lung zones in 19 patients (86%). Large airspace nodules with indistinct margins were seen in 8 patients (36%). Twelve patients survived, 10 died. Patients who died had multiple background illnesses and were significantly older than survivors (P = 0.006). Radiologic findings for the two groups were not significantly different.

Conclusion: Airspace opacities, often with nodular appearance, were the most common findings among patients with severeinfluenza A/H1N1 2009. The course of radiologic findings was similar in patients with severe influenza A/H1N1 2009 whosurvived and those who died.

Background: Percutaneous angioplasty (PTA) and stenting is an established procedure for the treatment of hypertension caused by atherosclerotic renal artery stenosis. However recently, the decision whether or not to perform this procedure has raised considerable debate.

Objectives: To examine the association between the basic clinical and radiological characteristics of candidates for renal artery PTA and the clinical outcome of the procedure in terms of improvement of blood pressure control and renal function.

Methods: We conducted a retrospective cohort study of all patients who underwent percutaneous transluminal renal artery angioplasty (PTRA) and stent implantation in a tertiary medical center during the period 2000–2007. The clinical and radiological data were extracted from the medical file of each patient. Blood pressure measurements and creatinine level were recorded before the procedure and 1 month, 6 months, 12 months and 18 months after PTRA.

Results: Thirty-two patients were included in the final statistical analysis. The mean age of the study population was 66.6 ± 8.8 years old and 75% were men. There was a significant reduction in both systolic and diastolic blood pressure 1 month after the procedure: 160.5 ± 24.7 vs. 141.8 ± 23.6 mmHg and 83.8 ± 12.9 vs. 68.8 ± 11.8 mmHg respectively (P < 0.001). The reduction in blood pressure was constant throughout the follow-up period and was evident 18 months after the procedure: 160.5 ± 24.7 vs. 135.0 ± 35.1 mmHg and 83.8 ± 12.9 vs. 71.3 ± 16.5 mmHg respectively (P < 0.001). However, no improvement in renal function was observed at any time during the follow-up period. We could not demonstrate an association between clinical or radiological features and the clinical outcome after PTRA.

Conclusions: Our findings show that PTRA[1] can be considered an effective procedure for improving blood pressure control in patients with atherosclerotic renal artery stenosis (ARAS) and resistant hypertension. This research, together with previous studies, strengthens the knowledge that the decline in glomerular filtration rate seen in many patients with ARAS is non-reversible and is not improved by PTRA.

Background: Several studies have suggested that iron deficiency may be related to the pathophysiology of attention deficit hyperactivity disorder (ADHD) due to the role of iron in the production of dopamine and noradrenaline.

Objectives: To evaluate the status of iron deficiency in ADHD children, using ferritin levels, a reliable measure of iron storage in body tissue, as an iron status marker, and to investigate a possible correlation between ferritin levels and the diagnosis of ADHD.

Methods: The study group included 113 newly referred ADHD children aged 5–15 years (mean age 8.8 ± 2.7).

Results: Ferritin levels were below 20 ng/ml in 67 children (59%) and above 20 ng/ml in 45 (41%). There was a very low inverse statistical correlation between scores on Conners’ Rating Scale and ferritin levels, probably without clinical significance. 

Conclusions: Our findings suggest that low iron stores may be related to ADHD pathophysiology; therefore, ferritin should be included in the overall evaluation of children with ADHD.

Attention deficit hyperactivity disorder (ADHD) is among the most prevalent chronic health disorders affecting school-age children. The disorder is the subject of much debate for several reasons, the major one being the diagnostic process, which in some aspects is unstructured and can be relatively easily biased. The impact of undiagnosed or misdiagnosed ADHD on the lives of many children can be severe. Therefore, it is important to understand the complexities of the diagnostic procedure in ADHD, including the cultural bias effect, the limitations of the DSM-IV-TR definitions, the effect of comorbid conditions on the diagnostic process, the gene-environment interactions, and the need to compose an objective, more accurate, and generally accepted diagnostic battery of tests. This review addresses the diagnostic difficulties of ADHD and considers some steps that would make ADHD a more easily identifiable disorder.
 

Background: Epidemiological studies have found that intrauterine growth retardation (IUGR) is closely related to hypertension and is associated with a reduced number of nephrons that may be a predisposing factor for the development of hypertension.

Objectives: To determine whether blood pressure levels of children with a history of IUGR are higher than those of children without IUGR.

Methods: Diastolic, systolic and mean arterial blood pressure levels were measured in 64 children aged 8–12 years old with a history of IUGR (mean birth weight 1780 ± 422 g) and compared with 64 age and gender-matched controls who had a normal birth weight (mean 3134 ±  594 g).

Results: Contrary to previous reports, systolic blood pressure values were significantly lower in the IUGR group compared to the controls (91.6 ±11.3 vs. 96.6 ±13.9, P = 0.027). There was no difference in diastolic blood pressure values. In the IUGR group, systolic blood pressure correlated significantly with current weight (P < 0.01) and body mass index (P < 0.05), and diastolic blood pressure with weight gain between age 2 and 4 years (P < 0.05). None of the blood pressure values correlated with birth weight.

Conclusions: Children born with IUGR have lower systolic blood pressure levels than matched controls at age 8–12 years. These data indicate that postnatal weight gain in this group has a greater impact on systolic blood pressure than birth weight.