Mastocytosis: a Rare Case of Anaphylaxis in Paediatric Age and Literature Review

The term “mastocytosis” denotes a heterogeneous group of disorders characterised by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. Symptoms result from MC chemical mediator’s release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem to contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently encountered, especially in systemic disease. We present a literature review of mastocytosis and a rare case report of an 18 month-old-girl with a bullous dermatosis, respiratory distress and anaphylaxis, as clinical manifestations of mastocytosis. The developments of accepted classification systems and novel useful markers allowed a re-evaluation and updating of the classification of mastocytosis. In paediatric age cutaneous forms of disease prevail and may regress spontaneously. SM is more frequently diagnosed in adults and is a persistent(clonal) disease of bone marrow. The clinical course in these patients is variable.Today diagnostic criteria for each disease variant are reasonably well defined. There are, however, peculiarities, namely in paediatric age, that makes the diagnostic approach difficult. Systemic disease may pose differential diagnostic problems resulting from multiple organ systems involvement. Coversly, the “unexplained” appearance of those symptoms with no skin lesions should raise the suspicion of MC disease. This case is reported in order to stress the clinical severity and difficult diagnostic approach that paediatric mastocytosis may assume

Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal

Activation of tissue mast cells (MCs) and their abnormal growth and accumulation in various organs are typically found in primary MC disorders also referred to as mastocytosis. However, increasing numbers of patients are now being informed that their clinical findings are due to MC activation (MCA) that is neither associated with mastocytosis nor with a defined allergic or inflammatory reaction. In other patients with MCA, MCs appear to be clonal cells, but criteria for diagnosing mastocytosis are not met. A working conference was organized in 2010 with the aim to define criteria for diagnosing MCA and related disorders, and to propose a global unifying classification of all MC disorders and pathologic MC reactions. This classification includes three types of `MCA syndromes' (MCASs), namely primary MCAS, secondary MCAS and idiopathic MCAS. MCA is now defined by robust and generally applicable criteria, including (1) typical clinical symptoms, (2) a substantial transient increase in serum total tryptase level or an increase in other MC-derived mediators, such as histamine or prostaglandin D 2, or their urinary metabolites, and (3) a response of clinical symptoms to agents that attenuate the production or activities of MC mediators. These criteria should assist in the identification and diagnosis of patients with MCAS, and in avoiding misdiagnoses or overinterpretation of clinical symptoms in daily practice. Moreover, the MCAS concept should stimulate research in order to identify and exploit new molecular mechanisms and therapeutic targets. Copyright (C) 2011 S. Karger AG, Base

Evaluation of Mast Cell Activation Syndromes: Impact of Pathology and Immunohistology

Mast cell activation syndromes (MCAS) are clinically defined disease states with a largely unknown morphological background. Since mastocytosis may be associated with MCAS, it is crucial in every patient to document or exclude mastocytosis by appropriate histological, molecular, and serological investigations of tissues/organs that are commonly involved in mastocytosis like skin, mucosa of the gastrointestinal tract and bone marrow. Accordingly, histopathological investigation including immunohistological stains is crucial to reach the final diagnosis in such patients and to classify MCAS into primary MCAS, which can present with or without evidence of overt mastocytosis, or secondary MCAS, where an underlying disease with or without tissue inflammation is detected. Cases without evidence of mastocytosis, monoclonal mast cells, or any underlying disease should be termed idiopathic MCAS. When the activating point mutant KIT D816V is detectable but criteria for diagnosis of mastocytosis are not completely met, a so-called (mono)clonal MCAS as a subvariant of primary MCAS should be diagnosed. Copyright (C) 2012 S. Karger AG, Base

Housing and road transport modify the brain neurotransmitter systems of pigs : Do pigs raised in different conditions cope differently with unknown environments?

How housing and transport conditions may affect welfare in porcine production is a leading topic in livestock research. This study investigated whether pigs present a different neurological response to management conditions and to ascertain whether pigs living partially outdoors cope differently with road transport-associated stress. Twenty-four female pigs were divided in two groups: one living indoors (ID, n = 12) and the other housed combining indoor conditions with 4 hours per day of outdoor pasture (OD, n = 12). After one month, one set of animals from each housing condition were driven in a truck to the slaughterhouse in low-stress conditions (5 min drive, no mixing groups, soft management, LS group, n = 12) or high-stress conditions (2 hours drive, mixing groups, harsh management, HS group, n = 12). At the slaughterhouse, blood was collected, and the prefrontal cortex (PFC) and the hippocampus (HC) dissected. OD pigs had lower serum haptoglobin and increased dopaminergic pathway (DA-system) in the PFC, suggesting that living outdoors increases their wellbeing. HS conditions increased serum creatine kinase (CK) and affected several brain pathways: activation of the noradrenergic (NA-system) and DA -system in the PFC and the activation of the DA-system and an increase in c-Fos as well as a decrease in brain-derived neurotrophic factor (BDNF) in the HC. The serotonergic system (5-HT-system) was mildly altered in both areas. There was an interaction between housing and transport in serum NA and the DA-system in the HC, indicating that living conditions affected the response to stress. Multivariate analysis was able to discriminate the four animal groups. In conclusion, this work indicates that housing conditions and road transport markedly modifies the neurophysiology of pigs, and suggests that animals raised partially outdoors respond differently to transport-associated stress than animals raised indoors, indicating that they cope differently with unknown environments

Effects of a high-fat-diet supplemented with probiotics and ω3-fatty acids on appetite regulatory neuropeptides and neurotransmitters in a pig model

The pig is a valuable animal model to study obesity in humans due to the physiological similarity between humans and pigs in terms of digestive and associated metabolic processes. The dietary use of vegetal protein, probiotics and omega-3 fatty acids is recommended to control weight gain and to fight obesity-associated metabolic disorders. Likewise, there are recent reports on their beneficial effects on brain functions. The hypothalamus is the central part of the brain that regulates food intake by means of the production of food intake-regulatory hypothalamic neuropeptides, as neuropeptide Y (NPY), orexin A and pro-opiomelanocortin (POMC), and neurotransmitters, such as dopamine and serotonin. Other mesolimbic areas, such as the hippocampus, are also involved in the control of food intake. In this study, the effect of a high fat diet (HFD) alone or supplemented with these additives on brain neuropeptides and neurotransmitters was assessed in forty-three young pigs fed for 10 weeks with a control diet (T1), a high fat diet (HFD, T2), and HFD with vegetal protein supplemented with Bifidobacterium breve CECT8242 alone (T3) or in combination with omega-3 fatty acids (T4). A HFD provoked changes in regulatory neuropeptides and 3,4-dihydroxyphenylacetic acid (DOPAC) in the hypothalamus and alterations mostly in the dopaminergic system in the ventral hippocampus. Supplementation of the HFD with B. breve CECT8242, especially in combination with omega-3 fatty acids, was able to partially reverse the effects of HFD. Correlations between productive and neurochemical parameters supported these findings. These results confirm that pigs are an appropriate animal model alternative to rodents for the study of the effects of HFD on weight gain and obesity. Furthermore, they indicate the potential benefits of probiotics and omega-3 fatty acids on brain function.info:eu-repo/semantics/acceptedVersio

Polyphenols and IUGR Pregnancies : effects of the Antioxidant Hydroxytyrosol on Brain Neurochemistry and Development in a Porcine Model

Supplementation of a mother's diet with antioxidants, such as hydroxytyrosol (HTX), has been proposed to ameliorate the adverse phenotypes of fetuses at risk of intrauterine growth restriction. In the present study, sows were treated daily with or without 1.5 mg of HTX per kilogram of feed from day 35 of pregnancy (at 30% of total gestational period), and individuals were sampled at three different ages: 100-day-old fetuses and 1-month- and 6-month-old piglets. After euthanasia, the brain was removed and the hippocampus, amygdala, and prefrontal cortex were dissected. The profile of the catecholaminergic and serotoninergic neurotransmitters (NTs) was characterized and an immunohistochemical study of the hippocampus was performed. The results indicated that maternal supplementation with HTX during pregnancy affected the NT profile in a brain-area-dependant mode and it modified the process of neuron differentiation in the hippocampal CA1 and GD areas, indicating that cell differentiation occurred more rapidly in the HTX group. These effects were specific to the fetal period, concomitantly with HTX maternal supplementation, since no major differences remained between the control and treated groups in 1-month- and 6-month-old pigs

Handcycling: training effects of a specific dose of upper body endurance training in females

Purpose: This study aims to evaluate a handcycling training protocol based on ACSM guidelines in a well-controlled laboratory setting. Training responses of a specific dose of handcycling training were quantified in a homogeneous female subject population to obtain a more in depth understanding of physiological mechanisms underlying adaptations in upper body training. Methods: 22 female able-bodied participants were randomly divided in a training (T) and control group (C). T received 7-weeks of handcycling training, 3 × 30 min/week at 65 % heart rate reserve (HRR). An incremental handcycling test was used to determine local, exercise-specific adaptations. An incremental cycling test was performed to determine non-exercise-specific central/cardiovascular adaptations. Peak oxygen uptake (peakVO2), heart rate (peakHR) and power output (peakPO) were compared between T and C before and after training. Results: T completed the training sessions at 65 ± 3 % HRR, at increasing power output (59.4 ± 8.2 to 69.5 ± 8.9 W) over the training program. T improved on handcycling peakVO2 (+18.1 %), peakPO (+31.9 %), and peakHR (+4.0 %). No improvements were found in cycling parameters. Conclusion: Handcycling training led to local, exercise-specific improvements in upper body parameters. Results could provide input for the design of effective evidence-based training programs specifically aimed at upper body endurance exercise in females

Factors precipitating the risk of aspiration in hospitalized patients: findings from a multicentre critical incident technique study

Objective: To elucidate factors, other than those clinical, precipitating the risk of aspiration in hospitalized patients. Design: The Critical Incident Technique was adopted for this study in 2015. Setting: Three departments located in two academic hospitals in the northeast of Italy, equipped with 800 and 1500 beds, respectively. Participants: A purposeful sample of 12 registered nurses (RN), all of whom (i) had reported one or more episodes of aspiration during the longitudinal survey, (ii) had worked 653 years in the department, and (iii) were willing to participate, were included. Main Outcome Measure(s): Antecedent factors involved in episodes of aspiration as experienced by RNs were collected through an open-ended interview, and qualitatively analysed. Results: In addition to clinical factors, other factors interacting with each other may precipitate the risk of aspiration episodes during hospitalization: at the nursing care level (misclassifying patients, transferring tasks to other healthcare professionals and standardizing processes to remove potential threats); at the family level (misclassifying patients, dealing with the cultural relevance of eating) and at the environmental level (positioning the patient, managing time pressures, distracting patient while eating, dealing with food consistency and irritating oral medication). Conclusions: At the hospital level, an adequate nursing workforce and models of care delivery, as well as time for initial and continuing patient and family assessment are required. At the unit level, patient-centred models of care aimed at reducing care standardization are also recommended; in addition, nursing, family and environmental factors should be recorded in the incident reports documenting episodes of aspiratio