Intracerebral hemorrhage due to hemorrhagic disease of the newborn and failure to administer vitamin K at birth

In infants, intracerebral hemorrhage (ICH) is most likely the result of trauma or disturbances of coagulation function. Routine and standard care of the newborn includes the administration of vitamin K to prevent hemorrhagic disease of the newborn. We present two infants, the products of home deliveries, who did not receive vitamin K at birth. Both infants developed ICH at 5 weeks of age and presented with signs and symptoms of increased IC pressure. In both cases, recombinant factor VIIa was administered to correct coagulation function and allow immediate surgical intervention which included craniotomy and hematoma evacuation in one patient and placement of a ventriculostomy in the other to treat increased IC pressure. Despite this therapy, both infants were left with severe neurologic sequelae. These two cases illustrate that hemorrhagic disease of the newborn can occur when prophylactic vitamin K is not administered and that it can have devastating consequences. Given these issues, the routine administration of vitamin K to all infants is mandatory and should not be considered optional.     

Differential modulation of estrogen receptors (ERs) in ischemic brain injury: a role for ERalpha in estradiol-mediated protection against delayed cell death

Estradiol enhances plasticity and survival of the injured brain. Our previous work demonstrates that physiological levels of estradiol protect against cerebral ischemia in the young and aging brain through actions involving estrogen receptors (ERs) and alterations in gene expression. The major goal of this study was to establish mechanisms of neuroprotective actions induced by low levels of estradiol. We first examined effects of estradiol on the time-dependent evolution of ischemic brain injury. Because estradiol is known to influence apoptosis, we hypothesized that it acts to decrease the delayed phase of cell death observed after middle cerebral artery occlusion (MCAO). Furthermore, because ERs are pivotal to neuroprotection, we examined the temporal expression profiles of both ER subtypes, ERalpha and ERbeta, after MCAO and delineated potential roles for each receptor in estradiol-mediated neuroprotection. We quantified cell death in brains at various times after MCAO and analyzed ER expression by RT-PCR, in situ hybridization, and immunohistochemistry. We found that during the first 24 h, the mechanisms of estradiol-induced neuroprotection after MCAO are limited to attenuation of delayed cell death and do not influence immediate cell death. Furthermore, we discovered that ERs exhibit distinctly divergent profiles of expression over the evolution of injury, with ERalpha induction occurring early and ERbeta modulation occurring later. Finally, we provide evidence for a new and functional role for ERalpha in estradiol-mediated protection of the injured brain. These findings indicate that physiological levels of estradiol protect against delayed cell death after stroke-like injury through mechanisms requiring ERalpha.     

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.     

Integrating pathology and radiology disciplines: an emerging opportunity?

ABSTRACT: Pathology and radiology form the core of cancer diagnosis, yet the workflows of both specialties remain ad hoc and occur in separate "silos," with no direct linkage between their case accessioning and/or reporting systems, even when both departments belong to the same host institution. Because both radiologists' and pathologists' data are essential to making correct diagnoses and appropriate patient management and treatment decisions, this isolation of radiology and pathology workflows can be detrimental to the quality and outcomes of patient care. These detrimental effects underscore the need for pathology and radiology workflow integration and for systems that facilitate the synthesis of all data produced by both specialties. With the enormous technological advances currently occurring in both fields, the opportunity has emerged to develop an integrated diagnostic reporting system that supports both specialties and therefore improves the overall quality of patient care.     

An exploratory analysis on gene-environment interactions for Parkinson disease

Little is known about gene-environment interactions in Parkinson disease (PD). We examined potential interactions of smoking and caffeine intake with 10 genome-wide association studies single nucleotide polymorphisms (SNPs) at or near the SNCA, MAPT, LRRK2, and HLA loci among 584 PD patients and 1571 controls. The main effects of these SNPs and environmental exposures were consistent with previous reports. Family history of PD was associated with PD risk (odds ratio = 2.71, 95% confidence interval, 1.97-3.74), which was little affected by further adjustment for these SNPs and environmental exposures. Overall, we did not find significant interactions of either smoking or caffeine intake with these SNPs. However, with a combined smoking and caffeine intake exposure, we found a significant interaction with rs2896905 at SLC2A13, near LRRK2 (p uncorrected = 0.0008). Each A allele was associated with a 35% higher PD risk among never smokers with low caffeine intake, but with a 32% lower risk among smokers with high caffeine intake. This study provides preliminary evidence of a potential gene-environment interaction for PD, which should be investigated in future studies.     

Influence of ethnocentrism and neo-phobia on ethnic food consumption in Spain

Over the last decade, a strong upsurge in Spanish immigration has fostered a thriving ethnic food market. To examine indigenous consumer predilections toward ethnic foods, a carefully designed choice experiment is employed, with particular focus on ethnocentricity and food neo-phobia traits on potential purchase decisions. Employing a two level nested logit model, consumers choose to accept/reject ethnic foods, with a positive response met by a further series of different ethnic cuisine and consumption scenario alternatives. Bivariate tests reveal that higher ethnocentric and neo-phobic segments possess common socio-demographic characteristics, whilst neo-phobia plays a significantly stronger role in determining the probability of rejection. Further tests reveal culturally similar Mexican food as the preferred ethnic food across all consumption scenarios. Moreover, the ‘restaurant’ is the favoured format of consumption, whilst there is evidence of a strong association between specific ethnic food types and consumption formats. The implications of our research suggest that in the short to medium turn, price is a strong strategic variable, whilst marketing strategies must successfully isolate and exploit specific ‘ethnic food/consumption scenario’ mixes. Finally, stronger messages emphasizing quality and convenience factors are seen as key to bolstering the underrepresented ‘home preparation’ ethnic food market in Spain.