A. Segev, D. Spiegelstein, P. Fefer, A. Shinfeld, I. Hay, E. Raanani and V. Guetta
Background: Trans-catheter aortic valve implantation (TAVI) has emerged as a novel therapeutic approach for patients with severe tricuspid aortic stenosis (AS) not suitable for aortic valve replacement.
Objectives: To describe our initial single-center experience with TAVI in patients with "off-label" indications.
Methods: Between August 2008 and December 2011 we performed TAVI in 186 patients using trans-femoral, trans-axillary, trans-apical and trans-aortic approaches. In 11 patients (5.9%) TAVI was undertaken due to: a) pure severe aortic regurgitation (AR) (n=2), b) prosthetic aortic valve (AV) failure (n=5), c) bicuspid AV stenosis (n=2), and d) prosthetic valve severe mitral regurgitation (MR) (n=2).
Results: Implantation was successful in all: six patients received a CoreValve and five patients an Edwards-Sapien valve. In-hospital mortality was 0%. Valve hemodynamics and function were excellent in all patients except for one who received an Edwards-Sapien that was inside a Mitroflow prosthetic AV and led to consistently high trans-aortic gradients. No significant residual regurgitation in AR and MR cases was observed.
Conclusions: TAVI is a good alternative to surgical AV replacement in high risk or inoperable patients with severe AS. TAVI for non-classical indications such as pure AR, bicuspid AV, and failed prosthetic aortic and mitral valves is feasible and safe and may be considered in selected patients.
R. Somech, A. Lev, A.J. Simon, D. Korn, B.Z. Garty, N. Amariglio, G. Rechavi, S. Almashanu, J. Zlotogora and A. Etzioni
Background: Enumeration of T cell receptor excision circles (TREC) was recently adopted as a neonatal screening assay for severe combined immunodeficiency (SCID). Enumeration of kappa-deleting recombination excision circle (KREC) copy numbers can be similarly used for early assessment of B cell lymphopenia.
Objective: To assess the ability of TREC and KREC counts to identify patients with combined T and B cell immunodeficiency in a pilot study in Israel.
Methods: We studied seven children born in Israel during the years 2010–2011 and later diagnosed with SCID, and an additional patient with pure B cell immunodeficiency. TREC and KREC in peripheral blood upon diagnosis and in their neonatal Guthrie cards were analyzed using real-time quantitative polymerase chain reaction, as were Guthrie cards with dried blood spots from healthy newborns and from normal and SCID-like controls.
Results: The first features suggestive of SCID presented at age 3.1 ± 2.4 months in all patients. Yet, the diagnosis was made 4.1 ± 2.9 months later. Their TREC were undetectable or significantly low at their clinical diagnosis and in their originally stored Guthrie cards, irrespective of the amount of their circulating T cells. KREC were undetectable in six SCID patients who displayed B cell lymphopenia in addition to T cell lymphopenia. KREC were also undetectable in one patient with pure B cell immunodeficiency.
Conclusions: TREC and KREC quantification are useful screening tests for severe T and B cell immunodeficiency. Implementation of these tests is highly important especially in countries such as Israel where a high frequency of consanguinity is known to exist.
O. Kassis, N. Katz, S. Ravid and G. Pillar
Background: Post-lunch dip is a well-known phenomenon that results in a substantial deterioration in function and productivity after lunch.
Objectives: To assess whether a new herbal-based potentially wake-promoting beverage is effective in counteracting somnolence and reduced post-lunch performance.
Methods: Thirty healthy volunteers were studied on three different days at the sleep clinic. On each visit they ate a standard lunch at noontime, followed by a drink of "Wake up®," 50 mg caffeine, or a placebo in a cross-over double-blind regimen. At 30 and 120 minutes post-drinking, they underwent a battery of tests to determine the effects of the beverage. These included: a) a subjective assessment of alertness and performance based on a visual analog scale, and b) objective function tests: the immediate word recall test, the digit symbol substitution test (DSST), and hemodynamic measurements. The results of the three visits were compared using one-way analysis of variance, with P < 0.05 considered statistically significant.
Results: In all performance tests, subjective vigilance and effectiveness assessment, both Wake up® and caffeine were significantly superior to placebo 30 minutes after lunch. However, at 2 hours after lunch, performance had deteriorated in those who drank the caffeine-containing drink, while Wake up® was superior to both caffeine and placebo. Blood pressure and pulse were higher 2 hours after caffeine ingestion, compared to both Wake up® and placebo.
Conclusions: These results suggest that a single dose of Wake up® is effective in counteracting the somnolence and reduced performance during the post-lunch hours. In the current study it had no adverse hemodynamic consequences.
M. Drendel, E. Carmel, P. Kerimis, M. Wolf and Y. Finkelstein
Background: Cricopharyngeal achalasia (CA) is a rare cause of dysphagia in children presenting with non-specific symptoms such as choking, food regurgitation, nasal reflux, coughing, recurrent pneumonia, cyanosis, and failure to thrive. It results from failure of relaxation of the upper esophageal sphincter (UES) and may appear either as an isolated lesion or in conjunction with other pathologies. Recognition and early diagnosis of this condition may minimize children's morbidity.
Objectives: To evaluate the clinical course of four children with cricopharyngeal achalasia presenting to our clinic.
Methods: We conducted a 5 year retrospective chart review in a tertiary referral center.
Results: Four children were diagnosed with primary cricopharyngeal achalasia between 2006 and 2010. Diagnosis was established by videofluoroscopy and all underwent uneventful cricopharyngeal myotomy. Three children recovered completely and one child showed partial improvement. For residual UES spasm in a partially improved patient, botulinum toxin was injected into the UES which led to further improvement. Dysphagia recurred in one child who was successfully treated with botulinum toxin injection.
Conclusions: Cricopharyngeal myotomy is a safe procedure in infants and young children. Botulinum toxin injection of the UES was found to be effective in refractory cases.
E. Rogev and G. Pillar
Background: Insomnia is the most common sleep disorder. Treatment options are improved sleep hygiene, relaxation, cognitive behavioral therapy, and medications. Studies examining the effect of hypnotics on insomnia reported that placebo had a substantial beneficial effect. Objectives: To evaluate whether placebo is an effective treatment for insomnia.
Methods: We assessed 25 patients with insomnia who were enrolled in a hypnotic study but prior to the study were asked to undergo two full nights in lab polysomnography studies: with and without a placebo. Although they were not explicitly told that they were receiving a placebo, the participants knew that the results of these studies would determine whether they met the criteria to participate in the pharmaceutical study.
Results: Although the participants acknowledged that they were given a placebo, almost all measures of their sleep improved. With placebo, sleep latency was shortened from 55.8 ± 43.5 to 39.8 ± 58.5 minutes (P < 0.05); total sleep time was extended from 283 ± 72.5 to 362.9 ± 56.3 minutes, and sleep efficiency improved from 59.57 ± 14.78 to 75.5 ± 11.70% (P < 0.05). Interestingly, placebo had no effect on the relative sleep stage distribution (percentage of total sleep time), except for a trend toward increased percentage of REM sleep.
Conclusions: Our findings how a clear and significant beneficial effect of placebo on insomnia, despite participants' understanding that they were receiving placebo. These results emphasize the importance of the patients' perception and belief in insomnia treatment, and suggest that in some cases placebo may serve as a treatment.
E. Silberstein, Y. Krieger, A. Sagi, Y. Shoham, O. Arnon and A. Bogdanov-Berezovsky
M.W. Moloi, F. Zhou, K. Baliki, M.K. Kayembe, F. Cainelli and S. Vento