A Moroccan woman with severe electrolyte disorder

The case of a Moroccan woman, age 25, who came into the emergency department with clinical tetany, is presented. She had experienced muscle spasms and paresthaesia of the upper limb over the previous few days. She had also experienced major diarrhoea for the previous 3 weeks. Investigations revealed a severe electrolyte disorder.

Guidance on Discharge from Hospital and the Continuing Care in the Community of People with a Mental Disorder who could Represent a Risk of Serious Physical Harm to Themselves or Others (PDF 985 KB)

Guidance on Discharge from Hospital and the Continuing Care in the Community of People with a Mental Disorder who could Represent a Risk of Serious Physical Harm to Themselves or Others

"Echoing approval": a new speech disorder.

We report the cases of two patients presenting a peculiar speech disorder, which we have named "echoing approval", in which the patients echo, in replying to questions in a dialogue with short phrases, the positive or negative syntactical construction of a question, or its positive or negative intonation, but without any repetition of whole or part of sentences. When asked about their symptoms, the patients replied 80% of the time with "yes, yes", "that's right", or "exactly" to positive questions and "no, no" or "absolutely not" to negative questions, regardless of their actual symptoms and oblivious to self-contradiction. In addition, when the examining doctor was speaking to a medical colleague in the patient's presence and using medical terminology that the patient did not understand, he/she agreed or disagreed with any sentence and technical word uttered in a way entirely dependent on the syntax or intonation used. To distinguish this speech disorder from echolalia or verbal perseverations, with which it may be superficially confused, we suggest that it be called "echoing approval", as it may be part one of the manifestations of the environment-dependency syndrome. This clinical picture was found to be associated with features of transcortical motor aphasia and frontal lobe signs. One patient had a bilateral callosofrontal malignant glioma and the other a probable multiple system atrophy with global deterioration, pre-eminent frontal release signs, diffuse leukoencephalopathy and multiple lacunes. On the basis of these clinical deficits and neuroimaging features, we are unable to delineate the common, or minimal, lesioned network required for this symptomatology to occur, especially in the absence of a series of patients, and with such a difference in both the location and causes of the lesions. However, bilateral frontosubcortical dysfunction was pre-eminent in the clinical picture in both patients, even though more diffuse brain pathology was seen in one, and it might be speculated that dysfunction of the bilateral orbitofrontal and frontomesial motor frontosubcortical circuits might be involved in the aetiology of this peculiar speech disorder.

Having Your Cake and Eating It, Too: Can Regulatory Agencies Be Both Independent and Accountable?

Independent regulatory agencies (IRAs) were created in various sectors and on different governmental levels to implement liberalization policies. This paper investigates the link between IRAs' independence, which is said to promote regulatory credibility and the use of technical expertise, and their accountability, which is related to the need for controlling and legitimizing independent regulators. The literature on the regulatory state anticipates a positive relation between the independence and accountability of IRAs, but systematic empirical evidence is still lacking. To tackle this question, this paper measures and compares the independence and the accountability of IRAs in three differentially liberalized sectors in Switzerland (telecommunications, electricity and railways). With the application of Social Network Analysis, this piece of research shows that IRAs can be de facto independent and accountable at the same time, but the two features do not necessarily co-evolve in the same direction.

Influence of the in vivo deregulation of the expression of ntrk3 (trkc) on cortical development of a murine model of panic/anxiety disorder

Alteracions durant el desenvolupament cerebral produirien canvis en la connectivitat neuronal i la bioquímica cel•lular que podrien resultar en una disfunció cognitiva i/o emocional, desembocant a trastorns psiquiàtrics. Les neurotrofines intervenen en els processos del neurodesenvolupament i en la funcionalitat del cervell adult i, conseqüentment, serien bons candidats com a factors de predisposició en diverses malalties mentals. S’ha suggerit la implicació del receptor de la neurotrofina 3, TrkC, en el trastorn de pànic. Nosaltres proposem que la sobreexpressió del gen NTRK3 (TrkC) és un mediador comú dels desencadenants genètics i ambientals d’aquest trastorn. Concretament, la seva desregulació podria produir canvis estructurals i funcionals a l’escorça cerebral dels pacients pel seu paper durant l’establiment dels circuïts corticals i la neuroplasticitat a l’adult, probablement esdevenint elements de predisposició a patir atacs de pànic. Els objectius principals d’aquest treball han estat: 1/determinar la contribució específica del gen NTRK3 a les alteracions de l’escorça cerebral observades en pacients, utilitzant un model murí modificat genèticament (TgNTRK3), i 2/analitzar l’impacte específic de la sobreexpressió de NTRK3 sobre la corticogènesi durant estadis embrionaris o postnatals estudiant la neurogènesi i la neuritogènesi. Els resultats indiquen que la sobreexpressió de NTRK3 als ratolins produeix una reducció del gruix de l’escorça frontal, recapitulant la hipofrontalitat dels pacients, que comportaria una menor inhibició dels nuclis subcorticals del sistema límbic com l’amígdala, i alteracions citoarquitectòniques a l’escorça prefrontal medial que recolzen la hipòtesi del seu mal funcionament. Tanmateix, els ratolins TgNTRK3 presenten canvis estructurals a l’escorça somatosensorial, suggerint que el processament de la informació sensorial podria estar alterat, el que encara no s’ha explorat en pacients. La sobreexpressió de NTRK3 també afecta la neuritogènesi en cultius primaris corticals i modifica la resposta de les neurones a l’estimulació amb neurotrofines. Per tant, el fenotip cortical adult dels TgNTRK3 podria dependre d’alteracions durant la corticogènesi.

Strategies of emotion regulation in adolescents and young adults with substance dependence or eating disorders

Some authors argue that both substance dependence and eating disorders should be considered as dependent behaviours. Similarities and differences between these disorders, however, remain unclear. This study compares processes of emotion regulation in adolescents and young adults (15 to 25 years old) with substance dependence (SD) or eating disorders (ED). One hundred and thirteen SD, 50 ED and 86 non-clinical subjects (NC), recruited in four French and Swiss locations, completed a self-report questionnaire of emotion regulation strategies. This questionnaire addresses the subjects' relationships, concerning past and present family, and refers to Main's (1990) concept of primary strategy (balanced activation and deactivation of attachment behaviours), and of secondary strategies (hyperactivation or excessive deactivation of the attachment system). Participants were also questioned in structured interviews, about life events and DSM-IV classification criteria. SD reported more adverse events than ED and NC. SD and ED reported using fewer primary strategies than NC, and SD had secondary strategies that were different from those of ED. Patients with eating disorders reported more hyperactivation, and SD reported more deactivation of the attachment system. It is hypothesized that while subjects with SD and ED have in common poorly regulated strategies, they differ in the way they process emotion or relationship-related information.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.

Your Guide to Healthy Eating Using the Food Pyramid

Do you want to feel good and have more energy? Do you want to maintain a healthy weight and help reduce your risk of becoming ill from high blood pressure, high cholesterol, heart disease, type 2 diabetes, cancer and other chronic diseases?Eating healthy food and being physically active are two of the most importantsteps that you can take to improve your health. To help you do this, follow the Healthy Eating Guidelines, use the Food Pyramid Guide and the Physical Activity Guidelines. Click here to download PDF 540kb FSAI Resource Publication -Healthy Eating and Active Living for Adults, Teenagers and Children over 5 yearsâ?" A Food Guide for Health Professionals and Catering Services:www.fsai.ie/WorkArea/DownloadAsset.aspx?id=11387

European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset.

Bipolar disorder has a genetic component, but the mode of inheritance remains unclear. A previous genome scan conducted in 70 European families led to detect eight regions linked to bipolar disease. Here, we present an investigation of whether the phenotypic heterogeneity of the disorder corresponds to genetic heterogeneity in these regions using additional markers and an extended sample of families. The MLS statistic was used for linkage analyses. The predivided sample test and the maximum likelihood binomial methods were used to test genetic homogeneity between early-onset bipolar type I (cut-off of 22 years) and other types of the disorder (later onset of bipolar type I and early-onset bipolar type II), using a total of 138 independent bipolar-affected sib-pairs. Analysis of the extended sample of families supports linkage in four regions (2q14, 3p14, 16p23, and 20p12) of the eight regions of linkage suggested by our previous genome scan. Heterogeneity testing revealed genetic heterogeneity between early and late-onset bipolar type I in the 2q14 region (P = 0.0001). Only the early form of the bipolar disorder but not the late form appeared to be linked to this region. This region may therefore include a genetic factor either specifically involved in the early-onset bipolar type I or only influencing the age at onset (AAO). Our findings illustrate that stratification according to AAO may be valuable for the identification of genetic vulnerability polymorphisms.

Enjoy healthy eating

This leaflet aims to increase public awareness and understanding of healthy eating messages. The leaflet includes the new eatwell plate, information on the five main food groups, along with top tips for cutting down on fat and what to choose when eating out. It also includes sections on the importance of breakfast and cutting down on salt.

Promoting healthy eating at work: a guide for employers

This booklet is part of the Work Well aimed at promoting health in the workplace. It outlines to employers the benefits of promoting healthy eating at work, what action can be taken, the range of healthier food options that can be provided in a canteen or by using external caterers, ways of promoting healthy eating among employees that do not have to be expensive or time consuming, and key steps for action.

Getting a good start: healthy eating from one to five

This booklet outlines advice on many key nutritional issues for children aged one to five. It includes information on how to provide a healthy, balanced diet for this age group, guidance on suitable snacks and drinks, feeding a vegetarian child, vitamin supplements and iron, making the most of mealtimes and how to deal with fussy eaters.

Body Weight and Eating Habits in 5-12-Year Old Irish Children

A shared goal of safefood and the Health Service Executive (HSE) is to improve the health of the Irish population. One of the greatest public health threats facing all developed countries today, including the island of Ireland, is obesity. It is crucial that the various sectors and disciplines in the country work together to successfully deal with this growing issue. The Department of Health and Children (DoHC) published a strategy for obesity in 2005 which identified children and young people as a vulnerable, at-risk group. Both safefood and the HSE recognise the growing trend towards obesity, physical inactivity and unhealthy dietary habits in Ireland. Both organisations have been actively engaged in addressing the obesity epidemic. A number of initiatives targeted at school-aged children have already been established. These include the ‘Little Steps’ mass media campaign (www.littlesteps.eu) – a campaign aimed at supporting parents/guardians of children, as well as various school-based initiatives and relevant training programmes for health professionals.

Healthy eating for people with Type 2 diabetes

This booklet has been prepared for those who have recently been diagnosed with Type 2 Diabetes. Type 2 Diabetes is a very common medical condition. While it is a condition that is on the increase, a lot is now known about Type 2 Diabetes and it can be successfully treated and managed so that the person with Diabetes can live a long and healthy life.

Food Behaviours: Healthy Eating on the island of Ireland

In the past, safefood’s consumer focused reviews (CFRs) have focused on key food chains including chicken, finfish, fruit and vegetables, milk, beef and pork. The reviews aimed to address consumer concerns surrounding food safety, production methods and nutritional issues related to key foods, with a view to communicating directly to consumers on those issues. More recently, there has been a shift in emphasis by safefood to address broader issues of consumer concern, such as food origin. The aim of the current CFR is different from previous reports. Instead of addressing key consumer food concerns, it focuses on understanding consumer food behaviour. Its primary aim is to inform the research, policies and practices of all those working towards changing consumer food safety and dietary behaviour on the island of Ireland and to ensure that communication with consumers is both evidence-based and effective.