Multiple cerebral infarctions with severe multi-organ dysfunction following multiple wasp stings

Wasp and bee sting are commonly encountered worldwide. Local reactions are more common, generally are self-limiting and settle within a few hours. Multiple stings can lead to various clinical manifestations like vomiting, diarrhea, dyspnea, generalized edema, hypotension, syncope, acute renal failure, and even death. Rarely, they can cause vasculitis, serum sickness, neuritis, and encephalitis. We are reporting a case of 40-year-old male who presented with stroke, right hemiparesis with severe multi-organ dysfunction due to multiple wasp stings.     

Thoracoabdominal approach for traumatic diaphragmatic hernia in a hemodynamically unstable patient

European Surgery - Diaphragmatic hernias with strangulated contents are a surgical challenge. Thoracoabdominal incisions are commonly used for a variety of thoracic and vascular...     

Differential Privacy in Cognitive Radio Networks: A Comprehensive Survey

Cognitive Computation - Integrating cognitive radio (CR) with traditional wireless networks is helping solve the problem of spectrum scarcity in an efficient manner. The opportunistic and dynamic...     

Core curriculum case illustration: medial peritalar dislocation

This is the 29th installment of a series that will highlight one case per publication issue from the bank of cases available online as part of the American Society of Emergency Radiology (ASER) educational resources. Our goal is to generate more interest in and use of our online materials. To view more cases online, please visit the ASER Core Curriculum and Recommendations for Study online at: http://www.aseronline.org/curriculum/toc.htm.     

Epigenetic Regulation of Milk Production in Dairy Cows

It is well established that milk production of the dairy cow is a function of mammary epithelial cell (MEC) number and activity and that these factors can be influenced by diverse environmental influences and management practises (nutrition, milk frequency, photoperiod, udder health, hormonal and local effectors). Thus, understanding how the mammary gland is able to respond to these environmental cues provides a huge potential to enhance milk production of the dairy cow. In recent years our understanding of molecular events within the MEC underlying bovine lactation has been advanced through mammary microarray studies and will be further advanced through the recent availability of the bovine genome sequence. In addition, the potential of epigenetic regulation (non-sequence inheritable chemical changes in chromatin, such as DNA methylation and histone modifications, which affect gene expression) to manipulate mammary function is emerging. We propose that a substantial proportion of unexplained phenotypic variation in the dairy cow is due to epigenetic regulation. Heritability of epigenetic marks also highlights the potential to modify lactation performance of offspring. Understanding the response of the MEC (cell signaling pathways and epigenetic mechanisms) to external stimuli will be an important prerequisite to devising new technologies for maximising their activity and, hence, milk production in the dairy cow.     

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the recent years, biallelic pathogenic variants in CRADD have been associated with a neurodevelopmental disorder (MRT34; MIM 614499) characterized by pachygyria with a predominant anterior gradient, megalencephaly, epilepsy and intellectual disability. More recently, biallelic pathogenic variants in PIDD1 have been described in a few families with apparently nonsydnromic intellectual disability. Here, we aim to delineate the genetic and radio-clinical features of PIDD1-related disorder. Exome sequencing was carried out in six consanguineous families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals as well as reviewing all the data from previously reported cases. We identified five distinct novel homozygous variants (c.2584C>T p.(Arg862Trp), c.1340G>A p.(Trp447*), c.2116_2120del p.(Val706Hisfs*30), c.1564_1565delCA p.(Gln522fs*44), and c.1804_1805del p.(Gly602fs*26) in eleven subjects displaying intellectual disability, behaviorial and psychiatric features, and a typical anterior-predominant pachygyria, remarkably resembling the CRADD-related neuroimaging pattern. In summary, we outlin`e the phenotypic and molecular spectrum of PIDD1 biallelic variants supporting the evidence that the PIDD1/CRADD/caspase-2 signaling is crucial for normal gyration of the developing human neocortex as well as cognition and behavior.Subject terms: Clinical genetics, Medical research     

Vitamin A intake and elevated serum retinol levels in children and young adults with cystic fibrosis.

BACKGROUND: Individuals with cystic fibrosis (CF) and pancreatic insufficiency (PI) are at risk for fat-soluble vitamin deficiency, including vitamin A. Recent evidence suggests current practices of vitamin A intake results in elevated serum retinol. METHODS: Serum retinol was assessed in 78 subjects (8 to 25 years old) with CF and PI by high performance liquid chromatography, and compared to the U.S. National Health and Nutrition Examination Survey (NHANES) data of subjects of similar age and gender. Vitamin A intake, anthropometry and FEV(1) were measured, and their relationship to serum retinol status was assessed. RESULTS: Median (range) serum retinol was 80 microg/dL (33 to 208) in subjects with CF; 58% were above the NHANES reference range (30 to 72 microg/dL). Total vitamin A intake from diet and supplements was high (608+431% Recommended Dietary Allowance). Serum retinol was not correlated with vitamin A intake, age or gender, and was inversely correlated with weight and height z scores (r=-0.28, p<0.05) in the subjects with CF. CONCLUSIONS: Both vitamin A intake and serum retinol were elevated in subjects with CF and PI, corroborating recent evidence of elevated serum retinol in preadolescent children with CF. These findings indicate the need for further study of dosing and monitoring care practices of vitamin A, to ensure adequacy and to avoid toxicity.