Israel Medical Association Journal

Background: Williams syndrome (WS) is a neurogenetic syndrome characterized by a variety of medical conditions and cognitive deficits along with distinct psychiatric and behavioral characteristics. To the best of our knowledge, no studies to date have comprehensively reported the prevalence of medical, cognitive deficits, and psychiatric disorders in one cohort of people with WS in one study.

Objectives: To detail the prevalence of the various clinical features of WS in a large nationwide Israeli cohort. To examine potential risk factors for attention deficit hyperactivity disorder (ADHD) in WS.

Methods: We investigated the effects of cardiovascular anomalies, intellectual quotient (IQ), and phonophobia (fear of sounds) on the likelihood of ADHD. The study included 80 participants with WS (mean age 7.76 years). Relevant medical information from medical records was obtained retrospectively. In addition, IQ testing and psychiatric assessments using structured tools were conducted. The association between ADHD and cardiovascular anomalies, IQ, and phonophobia was analyzed using a logistic regression.

Results: Supravalvular aortic stenosis and supravalvular pulmonary stenosis are the prevalent cardiovascular anomaly in WS. Phonophobia and ADHD are the most prevalent psychiatric diagnoses in people with WS. Phonophobia was significantly associated with the risk for ADHD in WS participants.

Conclusions: Our findings regarding the type and prevalence of medical, cognitive, and psychiatric characteristics in WS correspond to results in previous publications. We also showed a potential link between phonophobia and ADHD that merits further research.

Background: Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disease with poor prognosis despite intensive therapy.

Objectives: To discuss the ideal therapy of EBV-associated HLH for adults.

Methods: We retrospectively studied 23 adult patients with EBV-associated HLH at our institution between January 2000 and June 2015. The clinical characteristics, treatment, and prognosis of adult EBV-associated HLH were analyzed. The median age was 38 years (range 18–72).

Results: All patients were found to have high fever, thrombocytopenia, abnormal liver function, elevated ferritin, and lactate dehydrogenase. Leukopenia, anemia, coagulopathy, hypofibrinogenemia, and splenomegaly were found in more than 80% of patients. Ten patients were treated with HLH-2004 protocol. Eventually, 95.7% of patients died of EBV-associated HLH. Non-HLH-2004 treatment and bone marrow suppression may predict early relapse independently, and the poor performance status and high lactate dehydrogenase level can be poor prognostic factors. It was also validated in comprehensive analysis of published articles.

Conclusions: Adult EBV-associated HLH occurs most often in people of Asian descent who are older than 35 years. These patients had a disappointing outcome despite intensive treatment, especially with high lactate dehydrogenase levels, poor performance status, and bone marrow suppression. HLH-2004 protocol has shown a glimmer of hope in the adult populations.

Background: Outcomes of patients with acute ST-elevation myocardial infarction (STEMI) are strongly correlated to the time interval from hospital entry to primary percutaneous coronary intervention (PPCI). Current guidelines recommend a door to balloon time of < 90 minutes. 

Objectives: To reduce the time from hospital admission to PPCI and to increase the proportion of patients treated within 90 minutes. 

Methods: In March 2013 the authors launched a seven-component intervention program: 

1. Direct patient evacuation by out-of-hospital emergency medical services to the coronary intensive care unit or catheterization laboratory


2. Education program for the emergency department staff


3. Dissemination of information regarding the urgency of the PPCI decision


4. Activation of the catheterization team by a single phone call


5. Reimbursement for transportation costs to on-call staff who use their own cars


6. Improvement in the quality of medical records


7. Investigation of failed cases and feedback 

Results: During the 14 months prior to the intervention, initiation of catheterization occurred within 90 minutes of hospital arrival in 88/133 patients(65%); during the 18 months following the start of the intervention, the rate was 181/200 (90%) (P < 0.01). The respective mean/median times to treatment were 126/67 minutes and 52/47 minutes (P < 0.01). Intervention also resulted in shortening of the time interval from hospital entry to PPCI on nights and weekends. 

Conclusions: Following implementation of a comprehensive intervention, the time from hospital admission to PPCI of STEMI patients shortened significantly, as did the proportion of patients treated within 90 minutes of hospital arrival. 

 

Background: Antiphospholipid antibodies (aPL) have been advocated as potential mediators of unexplained female infertility, but no evidence has yet been raised to support such an association.

Objectives: To test the hypothesis that aPL might interfere with uterine decidualization, a gene expression study was performed on decidual stromal cells treated with different aPL preparations.

Methods: Decidual stromal cells were isolated from first-trimester deciduas obtained from two women undergoing elective abortion, and treated with: (i) a β2GPI-dependent aPL monoclonal antibody (IS3); (ii) IS3 plus TIFI, a synthetic peptide mimicking PL-binding region of β2GPI; and (iii) IgG from healthy subjects (NHS). Gene expression data were acquired using human HT-12 v3 beadchip arrays (Illumina). Differential expression analysis was performed by fitting a gene-wise linear model using the treatment group and decidual source as covariates.

Results: In the comparison of IS3 versus IgG NHS-treated decidual cells, gene ontology (GO) enrichment was expressed in terms relating to well-characterized aPL-mediated cellular effects: “inflammatory response,” “immune response,” “response to stress,” “oxydoreductase activity,” “metalloendopeptidase activity,” and “cytokine/chemokine activity.” As expected, almost all genes were up-regulated by IS3 treatment. The same GO categories appeared to be differentially expressed when IS3 treatment was compared to IS3 + TIFI, but with most genes being down-regulated.

Conclusions: Given the inflammatory response evinced at gene expression analysis on decidual stromal cells treated with a β2GPI -dependent aPL monoclonal antibody, it is feasible that aPL might interfere with uterine decidualization, affecting the early stages of implantation and ultimately resulting in female infertility.

 

Background: Ethiopian immigration to Israel was initiated in 1981. Most immigrants were rural dwellers who migrated first to Addis Ababa or Gondar, where they waited for eligibility status from Israel to leave Ethiopia. Soon after arriving in Israel, all immigrants were offered screening tests for human immunodeficiency virus (HIV) and syphilis.

Objectives: To evaluate the association of age, gender, marital status and length of time spent in urban areas in Ethiopia with the prevalence of HIV and syphilis seropositivity.

Methods: All adult Ethiopian immigrants who arrived at the Jerusalem immigration center between 1999 and 2002 and consented to HIV and syphilis screening tests were interviewed.

Results: Altogether, 678 immigrants (51% females) were screened; 39 (5.8 %) were seropositive for HIV and 33 (4.9%) for syphilis. The length of time the immigrants spent in Ethiopian cities before leaving for Israel was significantly associated with HIV: odds ratio (OR) 2.76, 95% confidence interval (CI) 1.13–6.71, and syphilis seropositivity  OR 3.87, 95%CI  1.56–9.62.

Conclusions: The length of transit time Ethiopian immigrants from rural areas spend in Ethiopian cities is significantly associated with HIV and syphilis seropositivity. Efforts should be made to shorten this time in order to reduce the risk of infection

Objectives: To describe the results of nerve conduction studies in patients with anogenital pruritus, brachioradial pruritus and scalp dysesthesia, and compare these sites to typical sites of lichen simplex chronicus (LSC).

Methods: The study summarizes previously published data combined with unpublished data of patients with scalp dysesthesia. Nerve conduction studies included measurements of distal sensory and motor latency, conduction velocity and F-responses.

Results: A neuropathy was demonstrated in 29 of 36 patients with anogenital pruritus (80.5%), 8/14 with brachioradial pruritus (57.1%) and 4/9 with scalp dysesthesia (44.4%). The typical sites overlapped with some but not all LSC sites.

Conclusions: A considerable proportion of patients with brachioradial pruritus, anogenital pruritus and scalp dysesthesia have abnormal nerve conduction findings, suggesting a neuropathic origin. The skin sites overlap with some common LSC sites, suggesting that in some cases of LSC a local neuropathy could be a possible cause.

Objectives: To evaluate common misinterpretations of head CT scans by radiology residents in a level I trauma center ED.

Methods: We studied 960 head CT scans of patients admitted to our ED from January 2010 to May 2011. They were reviewed separately by two senior neuroradiologists and graded as being unimportant (score of 1), important but not requiring emergent treatment (score of 2), and important requiring urgent treatment (score of 3). We recorded the time of day the examination was performed, the year of residency, the site, subsite and side of the lesion, the pathology, the anatomical mistake, false-positive findings, and the attending neuroradiologists' score.

Results: A total of 955 examinations were interpreted of which 398 had misinterpreted findings that were entered into the database, with the possibility of multiple errors per examination. The overall misinterpretation rate was 41%. The most commonly missed pathologies were chronic infarcts, hypodense lesions, and mucosal thickening in the paranasal sinuses. The most common sites for misdiagnosis were brain lobes, sinuses and deep brain structures. The highest percentage of misinterpretation occurred between 14:30 and 20:00, and the lowest between 00:00 and 08:00 (P < 0.05). The overall percentage of errors involving pathologies with a score of 3 by at least one of the neuroradiologists was 4.7%. Third-year residents had an overall higher error rate and first-year residents had significantly more false-positive misinterpretations compared to the other residents.

Conclusions: The percentage of errors made by our residents in cases that required urgent treatment was comparable to the published data. We believe that the intense workload of radiology residents contributes to their misinterpretation of head CT findings.

Objectives: To assess the ability of perfusion-weighted imaging to differentiate between high grade gliomas and brain metastases.

Methods: During 5 months, 21 patients (age 40–85, median age 61, 16 males and 5 females) with either glioblastoma multiforme (GBM) or metastasis (pathology proven), underwent MRI for assessment of the tumor prior to surgery. Most of the scans were done at 3 Tesla. The scans included perfusion-weighted imaging sequences. Perfusion in the tumor, in the peritumoral edema and in normal tissue were assessed using Functool® software. The ratios of tumor perfusion and peritumoral edema perfusion to normal tissue perfusion were calculated and compared.

Results: Bleeding artifact precluded perfusion assessment in four patients. There was no statistically significant difference between the tumor perfusion ratios of high grade gliomas and those of metastases. The edema perfusion ratios were higher in GBM than in metastases (P = 0.007).

Conclusions: Perfusion-weighted imaging of peritumoral edema can help to differentiate between GBM and metastases.

Background: Frequent readmissions significantly contribute to health care costs as well as work load in internal medicine wards.

Objective: To develop a simple scoring method that includes basic demographic and medical characteristics of  elderly patients in internal medicine wards, which would allow prediction of readmission within 3 months of discharge.

Methods: We conducted a retrospective observational study of 496 hospitalized patients using data collected from discharge letters in the computerized archives. Univariate and multivariate logistic regression analyses were performed and factors that were significantly associated with readmission were selected to construct a scoring tool. Validity was assessed in a cohort of 200 patients.

Results: During a 2 year follow-up 292 patients were readmitted at least once within 3 months of discharge. Age 80 or older, any degree of impaired cognition, nursing home residence, congestive heart failure, and creatinine level > 1.5 mg/dl were found to be strong predictors of readmission. The presence of each variable was scored as 1. A score of 3 or higher in the derivation and validation cohorts corresponded with a positive predictive value of 80% and 67%, respectively, when evaluating the risk of rehospitalization.

Conclusions: We propose a practical, readily available five-item scoring tool that allows prediction of most unplanned readmissions within 3 months. The strength of this scoring tool, as compared with previously published scores, is its simplicity and straightforwardness.