Abstract Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient’s age and sex. We ...describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping Nsp I 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.2-q24.12. The candidate region includes 22 known or predicted genes, including RAD21 , which is related to the cohesion complex EIF3H , which is involved in translation initiation, and TAF2 , which may be involved in intellectual disability. Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition.
To examine the association between leisure-time physical activity (LTPA) and long-term cancer risk in a nationwide cohort of older adults.
The cohort comprised participants of a national survey ...conducted between July 2005 and December 2006, constituting a random sample of Israeli community-dwelling adults aged 65 years or older. Based on self-reported LTPA habits, participants were classified as sufficiently active, insufficiently active, or inactive according to published guidelines. Cancer diagnosis was assessed via the Israeli National Cancer Registry through September 2015. Inverse probability weighted hazard ratios for incident cancer, based on propensity score, were estimated for LTPA categories.
Analysis included 1542 participants with no history of cancer at baseline (median 25th-75th percentile age, 73 years 69-78 years; 826 53.6% women). Inactive participants (n=641 41.6%) were more likely to be female, of lower socioeconomic status, and with higher body mass index and poorer perceived health compared with their insufficiently active (n=443 28.7%) and sufficiently active (n=458 29.7%) counterparts. In the propensity score–weighted synthetic sample, the distribution of measured baseline covariates was similar across LTPA categories. Over a median follow-up of 9 years, 254 new cancer cases (16.5%) were diagnosed. Leisure-time physical activity was inversely associated with incident cancer, with adjusted hazard ratios (95% CIs) of 0.66 (0.46-0.93) in insufficiently active and 0.59 (0.42-0.82) in sufficiently active participants compared with inactive individuals (P value for trend = .002).
Among older adults, engaging in LTPA, even at lower levels than officially recommended, may have a beneficial effect on primary prevention of cancer.
Our aim was to determine the rate of focal lesions of the corpus callosum in children with neurofibromatosis type 1, and to characterize their natural history. Magnetic resonance imaging scans of the ...brain in 79 children with neurofibromatosis type 1 who were followed at the Neurology Clinic of Schneider Children's Medical Center (Petah Tiqwa, Israel) from 1990-2005 were reviewed. Focal lesions of the corpus callosum were identified in 11 (14%). These included unidentified bright objects in 7 patients (9%), and a neoplastic process in 4 (5%). Follow-up ranged from 1-16 years. Two of 4 tumors had enlarged during follow-up, and one was excised. Neurofibromatosis type 1 may be associated with a 14% prevalence of corpus callosum lesions. Owing to the apparently high frequency of callosal neoplasms in this population (5% in our series), and their tendency to enlarge, careful evaluation and prolonged follow-up are warranted.
A 14-year-old male sustained neck trauma during a fight at school. Torticollis developed immediately afterwards, followed by axial dystonia and camptocormia. Thorough evaluation for etiology or ...background disease, including psychiatric examination, was negative except for the recent trauma. Antidystonia medications, administered after significant worsening of the symptoms, led to improvement. Dystonia and camptocormia resulting from trauma are rare presentations in childhood and adolescence.
Abstract Purpose The purpose of the study is to describe the implementation of measures introduced in Israel in 2009 to promote the safe practice of brain death determination (BDD). Materials and ...methods The measures require (1) physicians to undergo a mandatory training course, (2) the mandatory performance of an ancillary test, and (3) retrospective examination of all BDD forms by an independent committee. Any deviations from practice parameters were noted. Surveys were also undertaken to assess (i) the attitude of local physicians to the measures and (ii) whether similar measures are in place in Europe and whether they were considered necessary. Results After implementation, the measures resulted in the absence of deviations from practice parameters over time. A majority of local physician (n = 64) felt the measures added a sense of security to BDD (73%) and ensured its proper performance (85%). The European survey (n = 20 countries) revealed (1) specialized BDD training is required in 60%, provided in 50%, while felt necessary by 80%; (2) independent supervision of BDD is performed in only one other country; and (3) BDD is performed country-wide using the same criteria in 80% while felt necessary by 95%. Conclusion The measures were successfully implemented, reduced diversity in patient testing, and positively accepted by local physicians. Wider application of the measures may be appropriate as suggested by the results of a European survey and the variability of BDD reported in the literature.
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