Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous. A muscle biopsy from the older brother showed absence of type-2 muscle fibers and predominance of type-1 fibers. The aspirations causing pneumonia likely result from weakness of the laryngeal muscles, normally rich in type-2 fibers. The findings expand the phenotypic spectrum of MYH2 deficiency. MYH2 mutations should be included in the differential diagnosis of infants presenting with recurrent aspirations.

Delayed-onset PTSD among war veterans: the role of life events throughout the life cycle.

BACKGROUND: The underlying mechanisms of delayed-onset PTSD are yet to be understood. This study examines the role of stressful life events throughout the life cycle in delayed-onset PTSD following combat. METHODS: 675 Israeli veterans from the 1982 Lebanon War, 369 with antecedent combat stress reaction (CSR) and 306 without CSR were assessed prospectively, 1, 2 and 20 years after the war. Veterans were divided into four groups, according to the time of first PTSD onset (first onset at 1983, 1984, and 2002 and no PTSD onset). They were assessed for post-, peri- and pre-traumatic life events, as well as military and socio-demographic characteristics. RESULTS: Our findings indicate that shorter delays in PTSD onset were associated with a higher risk for CSR, a higher number of pre- and post-war life events, more severe subjective battle exposure, greater perceived danger during combat and a more stressful military position. CSR was found to be the most powerful predictor of PTSD onset. A recency effect was also found, with more recent life events proving to be stronger predictors of PTSD onset. CONCLUSIONS: First, our findings validate the existence of delayed-onset PTSD, as it was found among a substantial number of participants (16.5%). Second, post-, peri- and pre-traumatic life events are associated with the time of PTSD onset. Thus, practitioners and researchers are encouraged to examine not only the original trauma, but also the stressful experiences throughout the survivors' life cycle. In particular, identification of antecedent CSR may help mental help professionals in targeting high-risk populations.

Paediatric Hashimoto encephalopathy, refractory epilepsy and immunoglobulin treatment - unusual case report and review of the literature.

BACKGROUND: Hashimoto encephalopathy (HE) is a rare autoimmune disorder. It is defined as a 'corticosteroid-responsive encephalopathy associated with thyroiditis'. CLINICAL OBSERVATION: We describe a boy who suffered from HE, responded only to intravenous immunoglobulin therapy. This is the first case report of immunoglobulin therapy in paediatric HE. CONCLUSION: After review of the literature, we recommend that unexplained encephalopathy in children should lead to evaluation of thyroid autoantibody titres. Immunoglobulins should be considered.

Characterization of a triple opioid system in the human neuroblastoma NMB cell line.

The human neuroblastoma NMB cell line was found to contain the three types of opioid receptors (60% delta 25% kappa and 15% mu). The opioid receptors were negatively coupled to adenylyl-cyclase. Maximal reduction in cAMP content was achieved by selectively activating single receptor types, indicating the co-presence of the various opioid receptors in the same cells. The opioid receptors in NMB cells were up-regulated following prolonged exposure to the opioid antagonist naloxone and down-regulated following chronic treatment with the opioid agonist etorphine. Down-regulation was time-, dose- and temperature-dependent and was inhibited by colchicine and sodium azide. The NMB culture is presented as an excellent experimental model for studying the selective activation and regulation of the different opioid receptor types when they are co-expressed in the same neuron, as well as for studying interactions between the various opioid receptors.

Suicide attempt and the emergency room of the general hospital.

Data are presented on 270 consecutive cases of suicide attempts examined by a psychiatrist in a community general hospital's emergency room in Tel Aviv, Israel, during the years 1972--1974. The rates were 55:100,000, 42:100,000 and 33:100,000 respectively. The male-female ratio was 1:4. Predominantly young women having emotional problems used an overdosage of tranquillizers in an attempt to secure help. The second category of patients attempting suicide were males suffering from mental illness.