CHARGE syndrome: developmental and behavioral data

Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic features include long palpebral fissures with everted lower lids, prominent ears, skeletal abnormalities, mental retardation, and short stature. An increased incidence of infection has been reported in KS, and a few patients have been noted to have immune defects. However, the frequency and severity of the immune deficiency has not been clearly defined. Immunologic evaluation of 19 consecutive individuals with KS was performed at The Children's Hospital of Philadelphia. Decreased IgA levels were noted in 15/19 individuals (79%), 2 of whom had undetectable levels. Eight patients (42%) also had low total IgG levels. Specific IgG subclass abnormalities were found in 6 of 13 patients evaluated. IgM levels were less frequently decreased. One patient failed to generate anti-tetanus antibodies despite immunization. This study suggests that hypogammaglobulinemia is a frequent finding in children with KS. The pattern of antibody abnormalities seen in children with KS resembles common variable immune deficiency (CVID). Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality.     

Post traumatic brain perfusion SPECT analysis using reconstructed ROI maps of radioactive microsphere derived cerebral blood flow and statistical parametric mapping

Background  

Assessment of cerebral blood flow (CBF) by SPECT could be important in the management of patients with severe traumatic brain injury (TBI) because changes in regional CBF can affect outcome by promoting edema formation and intracranial pressure elevation (with cerebral hyperemia), or by causing secondary ischemic injury including post-traumatic stroke. The purpose of this study was to establish an improved method for evaluating regional CBF changes after TBI in piglets.     

Mast cell myositis: a new feature of allergic asthma?

There is some evidence that, in asthma, mast cells infiltrate the airway smooth muscle layer and, as a consequence, alter the functional and structural properties of myocytes. This inflammation so-called mast-cell myositis, probably contributes to both bronchial hyperresponsiveness and airway remodelling. Previous observations have pointed out the presence of mast cells within airway smooth muscle of atopic patients and recent data obtained in asthmatic patients demonstrate that this infiltration is more important in asthmatic patients with atopy. Although the mechanism of such a mast cell attraction remains to be fully understood, experimental data demonstrate that, upon stimulation by tryptase or cytokines, smooth muscle cells can attract mast cells through the production of TGF-beta1 or SCF. Once at the site of inflammation, activated mast cells are responsible for an important extracellular deposition of inflammatory products that may facilitate the increase in smooth muscle mass. In addition, comparison of asthmatic patients with and without atopy suggests that mast cell myositis is closely related with atopy.     

Theta coupling in the human electroencephalogram during a working memory task

The role of coupling between prefrontal and temporo-parietal brain areas within the theta frequency range of the human electroencephalogram was explored in a working memory task. During encoding of visual information higher theta amplitudes were observed in the right compared to the left hemisphere. Retrieval of visuospatial and verbal information elicited a more bilateral activation pattern. These effects were accompanied by theta coupling between dorsolateral prefrontal and right posterior temporal electrode sites during encoding. During retrieval prefrontal and bilateral temporo-parietal brain areas were coupled. These results support the idea of working memory functions being dependent on distributed prefrontal-temporal networks.     

Evaluation of the COBAS TaqMan 48 real-time PCR system for quantitation of hepatitis B virus DNA

The purpose of this study is to evaluate the usefulness of the new real-time PCR COBAS TaqMan 48 analyzer, comparing it to the existing COBAS AMPLICOR HBV MONITOR based on conventional PCR technology. The study used 104 samples from different patients. No differences were found in the sensitivity of the tests. There was an excellent correlation between the sample with a viral load within the dynamic range of the two tests (r = 0.938). The COBAS TaqMan test has a wider linear range, and this fact enables quantifying of the viral load without diluting the sample.     

ECT and Anticoagulation

Electroconvulsive therapy (ECT) is an effective and safe treatment for depression. Anticoagulation therapy is used to reduce morbidity or mortality from stroke or recurrent pulmonary embolus in various cardiac and vascular conditions. We report in detail the successful ECT treatment of a patient suffering from major depression with psychotic features who continued warfarin (Coumadin) anticoagulant therapy.     

Prospective adverse event risk evaluation in clinical trials

Health Care Management Science - Proactive and objective regulatory risk management of ongoing clinical trials is limited, especially when it involves the safety of the trial. We seek to...     

Efficacy of a Family-Based Intervention for HIV Prevention with Hispanic Adolescents with Same Gender Sexual Behaviors

Prevention Science - Despite the availability of efficacious and effective family-based interventions, such interventions are scarce for sexual minority adolescents, particularly among...     

Beneficial Effects of a Mixture of Algae and Extra Virgin Olive Oils on the Age-Induced Alterations of Rodent Skeletal Muscle: Role of HDAC-4

Aging is associated with a progressive decline in skeletal muscle mass, strength and function (sarcopenia). We have investigated whether a mixture of algae oil (25%) and extra virgin olive oil (75%) could exert beneficial effects on sarcopenia. Young (3 months) and old (24 months) male Wistar rats were treated with vehicle or with the oil mixture (OM) (2.5 mL/kg) for 21 days. Aging decreased gastrocnemius weight, total protein, and myosin heavy chain mRNA. Treatment with the OM prevented these effects. Concomitantly, OM administration decreased the inflammatory state in muscle; it prevented the increase of pro-inflammatory interleukin-6 (IL-6) and the decrease in anti-inflammatory interleukin-10 (IL-10) in aged rats. The OM was not able to prevent aging-induced alterations in either the insulin-like growth factor I/protein kinase B (IGF-I/Akt) pathway or in the increased expression of atrogenes in the gastrocnemius. However, the OM prevented decreased autophagy activity (ratio protein 1A/1B-light chain 3 (LC3b) II/I) induced by aging and increased expression of factors related with muscle senescence such as histone deacetylase 4 (HDAC-4), myogenin, and IGF-I binding protein 5 (IGFBP-5). These data suggest that the beneficial effects of the OM on muscle can be secondary to its anti-inflammatory effect and to the normalization of HDAC-4 and myogenin levels, making this treatment an alternative therapeutic tool for sarcopenia.     

Are Homemade and Commercial Infant Foods Different? A Nutritional Profile and Food Variety Analysis in Spain

Complementary feeding (CF) is an important determinant of early and later life nutrition with great implications for the health status and the development of an adequate growth. Parents can choose between homemade foods (HMFs) and/or commercial infant foods (CIFs). There is no consistent evidence as to whether HMFs provide a better nutritional profile and variety over CIFs. The aim of this study was to compare the nutritional profiles and food variety of HMFs versus CIFs in the Spanish market targeted for infants (6–11 months) and young children (12–18 months). Thirty mothers with their children aged 6 to 18 months were included in this cross-sectional study, following a 3-day weighed food diary of which HMFs were collected and chemically analyzed. HMFs meals for infant provided significantly lower energy, higher protein and higher fiber, for young children provided significantly higher protein and fiber than CIFs meals. HMFs fruit purees for infant shown significantly higher fiber and for young children provided higher energy than CIFs. HMFs meals contained a significantly greater number of different vegetables than CIFs meals (3.7 vs. 3.3), with carrot as the most frequently used in both. However, in CIFs fruit purees shown higher different fruits than HMFs, in both the banana was the fruit most frequently used. There was a predominance of meat and lack of oily fish and legumes in both HMFs and CIFs meals. HMFs and CIFs were equally characterized by a soft texture and yellow-orange colours. Importantly, our findings emphasize the need for clear guidelines for the preparation of HMFs as well as the promotion of food variety (taste and textures) in both HMFs and CIFs to suit infants’ and young children’s nutritional and developmental needs.