Search results for "Erk"

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

2013

Background: West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy. Case presentation: We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 y…

Cyberknife radiosurgery for cranial plasma cell tumor

2014

Cranial and intracranial involvement by myelomatous disease is relatively uncommon. Furthermore, systemic manifestations of multiple myeloma are present in the majority of these cases at the time of symptom onset. The authors report the case of a patient with serial appearance of multiple intracranial plasma cell tumor localizations as the first manifestations of a multiple myeloma. The patient was treated with CyberKnife radiosurgery for a lesion localized at the clivus and sella turcica with complete local control. With such a technique, based on high-dose conformality, the tumor was centered with an ablative dose of radiation and, at the same time, with a low dose spreading to the surrou…

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

2020

Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…

Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

2014

Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, an…

Merkitys, historia ja ideologia : Karl Mannheimin tiedonsosiologian lähtökohtien tarkastelua

2002

Behavioral reasoning perspectives to brand love toward natural products: Moderating role of environmental concern and household size

2021

Abstract Consumers do not easily trust brands’ claims of naturalness, making it essential to understand the drivers of loyalty and the underlying brand love for such products. Responding to this need, the present study developed a conceptual model based on the Behavioral Reasoning Theory (BRT) to examine the antecedents of brand love. The model was tested using data collected through a cross-sectional survey. The findings suggest that health consciousness is positively associated with reasons for consuming natural products and attitude, which, in turn, are also positively associated with each other. At the same time, reasons for consuming natural products and attitude are positively associa…

Purchasing natural personal care products in the era of fake news? The moderation effect of brand trust

2021

Natural personal care products are gaining popularity due to their benefits in terms of health and well-being. However, consumers are wary of these products and are guided by the fake news circulating about them. Since natural product consumption offers several personal and environmental benefits, it would be worthwhile to understand consumers’ tendency to let fake news influence their consumption decisions. Accordingly, the current study examined the association of fake news and purchasing behaviour towards natural personal care products, utilising Stimulus-Organism-Behaviour-Consequence (SOBC) as the theoretical framework. The study proposed openness to change as the stimulus, perceived b…

What drives brand love and purchase intentions toward the local food distribution system? A study of social media-based REKO (fair consumption) groups

2021

Local food is gaining increasing popularity among consumers due to its association with sustainable consumption. However, for a product to be commercially successful, such growing popularity should translate into high purchase intentions and positive associations with the product post-consumption. Although this success has not yet been reflected for local food consumption, research in this area has remained limited. The present study addresses this gap by examining the antecedents of brand love for both the local food distribution system and the local food it distributes. The study thus employs the stimuli-organism-response (SOR) theory, which indicates that certain environmental stimuli in…

Designing Recommendation or Suggestion Systems: looking to the future

2021

A Recommendation or Suggestion System (RSS) helps on-demand digital content and social media platforms identify associations amongst large amounts of transaction data, which are then used to provide personalised viewing and shopping recommendations to consumers. This preface introduces how RSSs are used in the marketplace and various purposes it serves. This paper is a contribution to the ongoing research beyond content-based recommender system. It presents an examination of how the Collective Intelligence Social Tagging System makes a fundamental difference to content-based recommender systems and a suggested hybrid approach to RSS architecture which uses crowdsourcing and tagging to incre…

Consumer behavior with augmented reality in retail: a review and research agenda

2021

Driven by the rapid technological development and adoption of augmented reality (AR) in retail, academic research has grown rapidly. Our purpose is to understand the reasons why consumers use augmented reality in retail and what outcomes retailers can expect. This study presents a systematic literature review and summarizes the current empirical knowledge on consumer behavior with AR in retail. This topic remains scattered between various literature streams showing that the potential of AR to create value for consumers lays in its ability to generate utilitarian and hedonic value, to improve decision-making, and to enhance personalization of the virtual self. Then, this study warns about ne…