Full Syndrome Research Articles

P.1.c.007 Effects of selective glutamate mGlu5 receptor antagonist, MPEP, on sleep and wakefulness in the rat

The purpose of the present studies was to investigate the behavioral and convulsant effects produced by the group I metabotropic glutamate receptor agonist (S)-3,5-dihydroxyphenylglycine (DHPG). Administered i.c.v. to mice, (S)-3,5-DHPG produced a behavioral syndrome consisting of scratching and/or facial grooming, tremors, slow forelimb clonus, rearing, and falling that increased over the dose range of 10–400 nmol. The full syndrome, produced by 400 nmol of (S)-3,5-DHPG, was antagonized by the selective mGlu1 receptor antagonist LY456236 but not by the mGlu5 receptor antagonist MPEP or the mGlu2/3 receptor antagonist LY341495. The behaviors induced by the 400 nmol dose were not blocked by the NMDA receptor antagonist MK-801, but were attenuated by the non-NMDA receptor antagonists GYKI 52466 and NBQX, and the Ca2+ mobilization inhibitor dantrolene, but at motor-impairing doses. The scratching behaviors produced by 30 nmol of (S)-3,5-DHPG were antagonized by LY456236 but not by MPEP, LY341495 or MK-801. GYKI 52466 and dantrolene, but not NBQX, inhibited scratching at motor-impairing doses. Both 400 and 30 nmol of (S)-3,5-DHPG produced a generalized seizure as recorded by surface EEG electrodes. LY456236 blocked the seizures produced by 30 nmol but not by 400 nmol; dantrolene was ineffective in blocking seizures produced by either dose. The present findings suggest that (S)-3,5-DHPG produces an increase in excitation that is mediated by mGlu1 and non-NMDA receptors.

Part Two: Against the Motion: It is not necessary to perform a randomised trial to compare open and endovascular repair of ruptured abdominal aortic aneurysms

anticipated from the literature. Irrespective of the reports of the good outcomes after endovascular repair from single expert centres or administrative databases, all these results are heavily confounded by patient selection and risks are under-reported. We need better evidence to guarantee the best outcomes for future patients with aneurysm rupture. We need to know whether an attempt at endovascular repair would be beneficial for all patients. It is only such knowledge that will drive changes in the provision of healthcare services to benefit future patients. The front cover of the Lancet issue of 26th September 2009, which published the IDEAL statements, carried this sentence: “It is incumbent on academic surgeons worldwide to transform what was once considered a comic opera into a dynamic world-class specialty”. We need to assess surgical innovations, including endovascular repair for ruptured aneurysm, rapidly in large, pragmatic RCTs.

Systemic inflammation and the metabolic syndrome among middle-aged community volunteers

The metabolic syndrome is conceptualized as a clustering of risk factors—including insulin resistance, dyslipidemia, central adiposity, and elevated blood pressure (BP)—that increase the risk for cardiovascular disease and type 2 diabetes mellitus. Recent evidence suggests that markers of systemic inflammation may be included in the definition of the syndrome and play some role in its pathogenesis. In this study, we use a statistical modeling technique, confirmatory factor analysis, to evaluate relationships of systemic inflammation, as measured by plasma concentrations of C-reactive protein and interleukin-6, with the component factors of the metabolic syndrome (insulin resistance, dyslipidemia, central adiposity, and elevated BP) and to examine whether inflammation is a potential common pathway linking established components to the full syndrome. Subjects were 645 community volunteers aged 30 to 54 years (48% male, 82% European American, 18% African American). Consistent with existing literature, structural equation modeling adjusting for age, sex, and race confirmed a higher-order common factor underlying the covariation of insulin resistance, dyslipidemia, adiposity, and BP. Inflammation was positively associated with this common factor, accounting for 54% of its variance and partially mediating statistical aggregation of the component factors comprising the metabolic syndrome. These results were particularly strong for adiposity, raising the possibility that inflammatory processes stimulated by intraabdominal adipose tissue contribute to the development of the metabolic syndrome. The inclusion of inflammatory markers in the clinical definition of metabolic syndrome seems warranted and may improve prognostic assessment of risk of type 2 diabetes mellitus and cardiovascular disease.

Depression and parkinsonism in older Europeans: results from the EURODEP concerted action

The prevalence rate of depression among patients with Parkinson's disease (PD) has been estimated at 25%, although prevalence figures range between 7-76%. Relatively few studies on PD and depression are based on random samples in the general population. Some depressive symptoms can also be understood as symptoms of parkinsonism, and the current study aims to describe which 'overlap' symptoms can be identified in a community sample. Data are employed from the EURODEP collaboration. Nine study centres, from eight western European countries, provided data on depression (most GMS-AGECAT), depressive symptoms (EURO-D items and anxiety), parkinsonism (self-report of PD or clinical signs of PD), functional disability and dementia diagnosis. Data were complete for 16 313 respondents, aged 65 and older; 306 (1.9%) reported or had signs of parkinsonism. The rate of depression was about twice as high among respondents with parkinsonism (unadjusted Odds Ratio 2.44, 95% Confidence Interval 1.88-3.17), also among those without functional disability. 'Overlap' symptoms between parkinsonism and depression, were represented by motivation and concentration problems, appetite problems and especially the symptom of fatigue (energy loss). However, principal component analysis showed that these 'overlap' symptoms loaded on different factors of the EURO-D scale. As among clinical patients with PD, depression is highly common in community dwelling older people with parkinsonism, even among those without functional disability. Although fatigue did not strongly relate to motivational symptoms, both types of 'overlap' symptoms possibly trigger a final common pathway towards a full depressive syndrome.

Smoking Cessation and the Risk for Type 2 Diabetes Mellitus

Letters1 June 2010Smoking Cessation and the Risk for Type 2 Diabetes MellitusRichard L. Shriner, MD, Noni A. Graham, MPh, and Mark S. Gold, MDRichard L. Shriner, MDFrom University of Florida College of Medicine, Gainesville, FL 32610.Search for more papers by this author, Noni A. Graham, MPhFrom University of Florida College of Medicine, Gainesville, FL 32610.Search for more papers by this author, and Mark S. Gold, MDFrom University of Florida College of Medicine, Gainesville, FL 32610.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-152-11-201006010-00020 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:We congratulate Yeh and colleagues (1) for a job well done. Tonstad and colleagues (2) had similar findings in patients with coronary heart disease: Ex-smokers were more likely to have the full metabolic syndrome and increased waist circumference. It is reported (3, 4) that tobacco and other drugs of abuse are associated with appetite suppression and that discontinuation is associated with hyperphagia and weight gain. Discontinuation of drug use is so regularly associated with weight gain that most abstinence-oriented rehabilitation centers that provide detox services and treat addiction have incorporated prophylactic diet and exercise into their programs. ...

Association of Spa Therapy with Improvement of Psychological Symptoms of Occupational Burnout: A Pilot Study

Objectives: The aim of the present study was to investigate effects of a 3-week resort-based spa therapy (a combination of balneotherapy, massages, exercise etc., including a respite from work) on psychological symptoms associated with occupational burnout. Patients and Methods: In a longitudinal design, a group of 65 actively working individuals (45 women, 20 men, mean age 50.4 ± 6.7 years) of various occupations selected on the basis of their level of burnout and undergoing spa therapy primarily for musculoskeletal pain were studied in regard to the change in fatigue, distress, reduced motivation, and quality of sleep. Variables were assessed at the beginning and at the end of spa therapy as well as 4 weeks and 3 months after treatment. Two levels of burnout were distinguished: individuals with mild burnout (i.e. increased emotional exhaustion) and individuals with a full burnout syndrome (i.e. increased exhaustion plus social detachment and/or performance dissatisfaction). Results: At the end of the treatment, all four symptoms of burnout showed a significant improvement in both groups compared to their pre-treatment level. This improvement was sustained up to 3 months post-treatment for both burnout groups. Conclusion: Spa therapy may be a helpful measure for treating the symptoms of occupational burnout.

The Pharmacogenetics of Depression: Enter the GWAS

The Pharmacogenetics of Depression: Enter the GWAS

The prodrome of autism: early behavioral and biological signs, regression, peri‐ and post‐natal development and genetics

Autism is one of the most heritable neurodevelopmental conditions and has an early onset, with symptoms being required to be present in the first 3 years of life in order to meet criteria for the 'core' disorder in the classification systems. As such, the focus on identifying a prodrome over the past 20 years has been on pre-clinical signs or indicators that will be present very early in life, certainly in infancy. A number of novel lines of investigation have been used to this end, including retrospective coding of home videos, prospective population screening and 'high risk' sibling studies; as well as the investigation of pre- and peri-natal, brain developmental and other biological factors. While no single prodromal sign is expected to be present in all cases, a picture is emerging of indicative prodromal signs in infancy and initial studies are being undertaken to attempt to ameliorate early presentation and even 'prevent' emergence of the full syndrome.

Hormone-specific psychiatric disorders: do they exist?

A stated goal of the DSM-V process is to try to use the biological pathophysiology of mental disorders to inform psychiatric diagnoses, including dimensional features which may cut across diagnostic categories (Charney et al. 2002; Regier et al. 2009). At this point in time, however, biological markers have not been identified which are robust enough to be incorporated in diagnostic criteria. Progress in developing biologically-based diagnoses will depend on more detailed examination of clinical phenomenology associated with particular genetic, physiological, and neural processing characteristics. It is reasonable to expect that such an effort could result in identification of syndromes that map more closely to biological abnormalities than current diagnostic categories. As part of this effort, hormone-related syndromes deserve close attention as potential diagnostic entities or potential supraordinate dimensions that would cross diagnostic boundaries. Because mood and behavior are emergent properties, it is difficult to focus on a level of physiology that would be most informative for diagnostic classification. It is now recognized that individual genetic polymorphisms are unlikely to contribute more than a very small degree of risk for psychiatric disorders. Moreover, the pathway from genes to behavior is now known to incorporate multiple opportunities for modulation of risk, including epigenetic modification of gene expression and plasticity of neurons, synapses and neural networks. Hormones can impact each of these biological processes. Hormonal abnormalities may arise at the synthesis, metabolism or receptor level, but still form organized, identifiable psychiatric syndromes. There are several challenges to identifying hormone-related syndromes. First, in naturalistic reproductive hormone fluxes, such as puberty, the menstrual cycle, pregnancy, lactation and menopause, multiple hormonal changes occur simultaneously. There is an unfortunate tendency to attribute psychiatric symptoms to fluctuations in estrogen, rather than considering a more complete set of hormonal changes. In some cases, such a postpartum OCD, the full syndrome may not be evident following exposure to pregnancy levels of estrogen or progesterone alone. Another major challenge in sorting out hormonal influences on psychiatric disorders is the complex metabolism of circulating steroid hormones. Circulating hormone levels can differ from levels in specific brain areas or within specific cells because local tissue and cellular enzymes can metabolize steroid hormones to other compounds with distinct activities, such as neurosteroids. Approaches to sort out the hormone metabolite most proximal to symptom generation are to study the effects of enzyme inhibitors, receptor antagonists and hormonal agents which are resistant to metabolism. Finally, examination of psychiatric effects of peptide hormones such as oxytocin and inflammatory cytokines is complicated by lack of agonists and antagonists which can access the brain, and separate pools of hormone at specific brain sites and in the periphery.

Are Guidelines Needed for the Diagnosis and Management of Incipient Alzheimer's Disease and Mild Cognitive Impairment?

Current research is aiming to push the boundaries of the point at which a diagnosis of Alzheimer Disease (AD) can be made. Clinical syndromes such as Mild Cognitive Impairment (MCI) and various clinical and biological markers of AD may help to identify people in the early stage of AD, before a full dementia syndrome is present. In the first part of this paper, we discuss whether MCI represents incipient AD, and examine some of the methods currently used in research to identify AD patients in the preclinical phase. In the second part, we discuss whether specific guidelines are needed for the diagnosis and management of MCI and incipient AD, and consider the potential impact of this on clinical practice and public health from the perspective of patients, caregivers, and healthcare providers.

DNA structure and the Werner protein modulate human DNA polymerase delta-dependent replication dynamics within the common fragile site FRA16D

Common fragile sites (CFS) are chromosomal regions that exhibit instability during DNA replication stress. Although the mechanism of CFS expression has not been fully elucidated, one known feature is a severely delayed S-phase. We used an in vitro primer extension assay to examine the progression of DNA synthesis through various sequences within FRA16D by the replicative human DNA polymerases δ and α, and with human cell-free extracts. We found that specific cis-acting sequence elements perturb DNA elongation, causing inconsistent DNA synthesis rates between regions on the same strand and complementary strands. Pol δ was significantly inhibited in regions containing hairpins and microsatellites, [AT/TA]24 and [A/T]19–28, compared with a control region with minimal secondary structure. Pol δ processivity was enhanced by full length Werner Syndrome protein (WRN) and by WRN fragments containing either the helicase domain or DNA-binding C-terminal domain. In cell-free extracts, stalling was eliminated at smaller hairpins, but persisted in larger hairpins and microsatellites. Our data support a model whereby CFS expression during cellular stress is due to a combination of factors—density of specific DNA secondary-structures within a genomic region and asymmetric rates of strand synthesis.

Recent Advances in Psychopathy Research

Can J Psychiatry. 2009;54(12):787-790. The study of psychopathy is a rapidly growing area of psychiatry and psychology. The articles in this In Reviewprovide insight into 3 critical domains of psychopathy research. Taken together, they illustrate the substantial progress made in understanding psychopathy and the mechanisms that underlie it. In addition, each identifies limitations of current knowledge and suggests important directions for fixture studies. Dr Robert D Hare and Dr Craig S Neumann1 provide a good introduction to the syndrome and summarize various issues related to using the expert-rater Psychopathy Checklist (PCL) measures to assess psychopathy, and address relations between psychopathy, antisocial behaviour, and violence. In reviewing similarities and differences between psychopathy and antisocial personality disorder (ASPD), they argue persuasively that psychopathy merits a greater role in diagnostic taxonomies. Their reviews of the application of multivariate statistical methods and intervention studies are especially informative. Regarding intervention, they make the provocative argument that treatment need not alter the personality of psychopathic offenders to reduce antisocial behaviour. They also review recent findings suggesting somewhat effective treatment both of adults and of youth with psychopathic features. I comment here on only a few of these issues. First, Dr Hare and Dr Neumann' address the trend toward studying the dimensions underlying psychopathy rather than psychopathy itself. These studies raise questions about when the full psychopathy syndrome, compared with one of its components, is most useful in predicting outcomes of interest. Although they illustrate this issue within the domain of antisocial behaviour, the same issue applies to the affective, cognitive, and physiological anomalies associated with psychopathy. A related issue is that regression and structural equation modelling studies commonly report unique relations of factor scores to scores on criterion variables. However, because intercorrelations between psychopathy factor scores often account for one-half or more of the variance in a factor score, it is difficult to interpret the meaning of relations that are evident only after controlling for the influence of other factor scores.2 Substantial additional research on this issue is needed. Second, they review recent research suggesting the possibility of rater bias in assessments completed by clinicians in adversarial contexts. Given the increasing use of psychopathy in courtrooms, it is striking that so much of what we know about the disorder is based on research in which psychopathy is assessed confidentially. Evidence on the impact of biased self-presentation3 and on rater bias in adversarial contexts suggests that PCL ratings may be less reliable in forensic than in laboratory settings,4'5 another critical direction for fixture research. As Dr Hare and Dr Neumann note,1 PCL assessments that are completed based solely on file material provide a method that circumvents the need to interview defendants. However, such assessments may provide less information at higher levels of psychopathy and less adequate assessments of interpersonal-affective aspects of psychopathy.6 Whereas Dr Hare and Dr Neumann note that PCL: Youth Version (YV) scores have many of the same correlates as PCL - Revised scores, their chief focus is on psychopathy in adults. In contrast, Dr Paul J Frick7 reviews the burgeoning literature on youth with psychopathic traits. Given the probability that understanding the development of psychopathy will aid in preventing it, the past decade has seen a dramatic increase in studies of youth with psychopathic traits. Dr Frick's work occupies a pivotal place in this growing empirical literature. Instead of using expert-rater measures, Dr Frick7 focuses on studies employing parent, teacher, or self-ratings of psychopathic traits. …

A New Preoperative Predictor of Outcome in Ruptured Abdominal Aortic Aneurysms: The Time Before Shock (TBS)

In patients with ruptured abdominal aortic aneurysm (RAAA) and shock, the time lag between the onset of the symptoms due to RAAA and the presence of a full developed shock syndrome was evaluated to assess its prognostic meaning. This time lag was called time before shock (TBS). Ninety-four patients operated on between 2002 and 2007 have been retrospectively analyzed regarding TBS and the following parameters: presence of shock, severity of bleeding, age, comorbidities, and gender. According to TBS, on a 10-hour cutoff value, three groups of patients were distinguished: patients with TBS of 10 or less (short TBS), patients with TBS greater than 10 (long TBS), and patients without shock. The relationship of these variables with intraoperative and 30-day mortality was analyzed by both univariate and multivariate analyses. In the univariate analysis, patients with short TBS presented with four-fold mortality compared to patients without shock (p=0.000), whereas the increase in mortality of the patients with long TBS was nonsignificant (p=0.448). The mortality in patients with shock (presence of shock) was 3.7 times higher than in patients without shock (p=0.001). The mortality related to massive bleeding was 3.7 times higher than that associated with moderate bleeding (p=0.001). An increased mortality with borderline significance level was observed in patients older than 75 years (p=0.052). The relationship of mortality to the presence of comorbidities and gender was not significant. In the multivariate analysis, the mortality among the patients with short TBS was clearly highest, after either massive or moderate bleeding. In the logistic model with TBS, the Wald test showed as significant both short TBS (p=0.001) and severity of bleeding (p=0.033) but not age (p=0.103) and long TBS (p=0.0401). The model with TBS presented a better performance than that with shock, showing higher sensitivity, higher values of Youden's J, and a greater proportion of the total variation in mortality. Through the model with TBS, two groups of patients (those 75 years or younger with massive bleeding and those older than 75 years with moderate bleeding), both with short TBS, presented with a high risk of death not predicted by the model with shock. TBS seems to complete the information given by the parameter "presence of shock," and its evaluation allows a more effective judgment of the risk of death, at emergency admission of patients with RAAA.

Subthreshold conditions as precursors for full syndrome disorders: a 15‐year longitudinal study of multiple diagnostic classes

There has been increasing interest in the distinction between subthreshold and full syndrome disorders and specifically whether subthreshold conditions escalate or predict the onset of full syndrome disorders over time. Most of these studies, however, examined whether a single subthreshold condition escalates into the full syndrome form of that disorder. Equally important, though, is whether subthreshold conditions are likely to develop other full syndrome disorders and whether these associations are maintained after adjusting for comorbidity. A 15-year longitudinal study of subthreshold psychiatric conditions was conducted with 1,505 community-drawn young adults. We examined whether 1) subthreshold major depression, bipolar, anxiety disorders, alcohol use, substance use, conduct disorder and/or ADHD were precursors for the corresponding (homotypic) full syndrome disorder; 2) subthreshold conditions were precursors for other (heterotypic) full syndrome disorders; and 3) these homotypic and heterotypic precursors persisted after adjusting for comorbidity. Subthreshold major depression, anxiety, alcohol use, substance use, and conduct all escalated into their corresponding full syndrome and nearly all homotypic developments were maintained after adjusting for comorbid subthreshold and full syndrome conditions. Many heterotypic associations were also observed and most remained after controlling for comorbidity, particularly among externalizing disorders (e.g., alcohol, substance, conduct/antisocial personality disorder). Many subthreshold conditions have predictive validity as they may represent precursors for full syndrome disorders. Alternatively, dimensional conceptualizations of psychopathology which include these more minor conditions may yield greater validity. Subthreshold conditions may represent good targets for preventive interventions.

Should the diagnosis of major depression be made independent of or dependent upon the psychosocial context?

The diagnosis of certain psychiatric syndromes (e.g. panic attacks, post-traumatic stress disorder) is crucially dependent on the psychosocial context in which they arise. For other syndromes (e.g. schizophrenia), the context is generally irrelevant. Should the diagnosis of major depression (MD) be made dependent upon or independent of the psychosocial context in which it occurs? Twins were selected from a population-based registry who, on personal interview, reported developing a full depressive syndrome either 'out of the blue' or in response to stressful life events (SLEs) rated objectively as having mild, low moderate, high moderate or severe long-term contextual threat (LTCT). In these depressed subjects, no relationship was found between the level of adversity associated with onset and most indices of liability to depression, including risk of MD in co-twin and parents, level of neuroticism, risk for future depressive episodes, co-morbidity with other internalizing disorders and history of sexual abuse. Compared to the remainder of this epidemiologic cohort, subjects developing depression in response to the severe threat events had substantially elevated levels of all the examined indices of liability to MD. Individuals who develop a full depressive syndrome in response to high-threat events do not have an appreciably lower liability to MD than those developing depression after exposure to low adversity and have much higher liability to depression than observed in their population cohort. These results support the hypothesis that, in general, MD can be diagnosed independently of the psychosocial context in which it arises.

Significant association of metabolic syndrome with silent brain infarction in elderly people

A silent brain infarction (SBI) can predict clinical overt stroke or dementia. Studies focusing on the elderly population, where SBI is most common, are sparse. We examined the associations between SBI and metabolic syndrome (MetS) in healthy elderly individuals. Neurologically healthy subjects (1,254 persons, 723 males) aged > or =65 years who underwent brain MRI were evaluated. MetS was diagnosed following the AHA/NHLBI-2005 criteria. We examined associations between full syndrome (at least three of the five conditions) as well as its components and SBI while controlling for possible confounders. One hundred and ninety-seven subjects (15.7%) were found to have one or more SBIs on MRI. Age (1-year difference) was found to be significantly related to SBI prevalence (OR 1.09; 95% CI 1.05-1.12). MetS was significantly associated with SBI (OR 1.68; 95% CI 1.15-2.44). The component model of MetS showed a strong significance between elevated blood pressure (OR 1.89; 95% CI 1.23-2.91) and SBI. Subjects exhibiting more components of MetS showed more prevalent SBI and multiple SBIs. MetS was found to be significantly associated with SBI in neurologically healthy elderly people. The positive trend between the number of MetS components and SBI could be used as a diagnostic tool to predict and prevent future stroke.

A 6-Month Follow-Up Study of Posttraumatic Stress and Anxiety/Depressive Symptoms in Korean Children After Direct or Indirect Exposure to a Single Incident of Trauma

The aims of this study were to examine the symptoms of posttraumatic stress and anxiety/depression in Korean children after direct or indirect exposure to a single incident of trauma during a fire-escape drill and to assess the incidence of psychiatric disorders in this population. A total of 1,394 students who attended the elementary school at which the traumatic event took place were evaluated using self-administered questionnaires (the Child Posttraumatic Stress Disorder-Reaction Index [CPTSD-RI], State Anxiety Scale of the State-Trait Anxiety Inventory for Children [STAIC], and Children's Depression Inventory [CDI]), as well as structured diagnostic interviews (Diagnostic Interview Schedule for Children, Version-IV [DISC-IV]) at 2 days (time point 1), 2 months (time point 2), and 6 months (time point 3) after the incident. The 335 students who witnessed the accident were defined as the direct-exposure group, and the remaining students (n = 1,059) were defined as the indirect-exposure group. The study was conducted from May to November 2007. At time point 1, the prevalence of severe posttraumatic stress disorder (PTSD), anxiety, and depressive symptoms was 18.2%, 5.5%, and 3.4%, respectively. The prevalence of severe PTSD symptoms, as measured by the CPTSD-RI, was significantly higher in the direct-exposure group than in the indirect-exposure group (36.6% vs 12.7%, respectively; P < .001). At time point 2, the prevalence of severe PTSD symptoms was 7.4% (14.0% in the direct-exposure group and 4.9% in the indirect-exposure group, P < .001). The mean total CPTSD-RI score was significantly higher (P < .001) in the direct-exposure group than in the indirect-exposure group. At time point 3, thirty-eight of the 58 subjects (65.5%) evaluated with the DISC-IV in the direct-exposure group had 1 or more of the 7 anxiety/depressive disorders assessed, including subthreshold diagnoses. Among the diagnoses meeting full DSM-IV criteria for each disorder, agoraphobia was the most prevalent (22.4%), followed by generalized anxiety disorder (13.8%), separation anxiety disorder (6.9%), PTSD (5.2%), and social phobia (5.2%). When the subthreshold diagnoses were considered along with the full syndrome diagnoses, separation anxiety disorder was the most common diagnosis (41.4%), followed by agoraphobia (34.5%), obsessive-compulsive disorder (22.4%), PTSD (20.7%), and social phobia (20.7%). The results of this study provide important evidence that various anxiety/depressive disorders, in addition to PTSD, might follow after direct or indirect exposure to trauma. Our findings highlight the importance of comprehensive screening for psychiatric problems in children exposed to trauma of any scale.

Caso para diagnóstico

Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

Collectrin gene screening in Turner syndrome patients with kidney malformation

Turner syndrome (TS) affects one in 2500–3000 live-born girls, and is the most prevalent female sex chromosomal disorder in humans, resulting from the loss of all or part of one of the two X chromosomes (Sybert and McCauley 2004). About 50% of TS patients carry a 45, X monosomy, the rest being mosaics or structural chromosome abnormalities. TS patients’ phenotype is variable, and the wide spectrum of clinical features includes: short stature, ovarian dysgenesis, lymphedema, cardiovascular defects and renal malformation. Diabetes mellitus is also present at a rate two to four times higher than in the general population (Elsheikh et al. 2002), consistent with the finding of a relative insulin deficiency in TS on a non-immune basis, suggesting that haploinsufficiency for X-chromosome gene(s) impairs beta-cell function predisposing to diabetes mellitus in TS (Bakalov et al. 2004). The loss of the short arm of chromosome X (Xp), common to all TS, generally results in the full syndrome phenotype (Elsheikh et al. 2002). So far, a correlation between karyotype and phenotype in TS patients has not been clearly defined. Haploinsufficiency of several genes mapped to the short arm of X chromosome has been related to the clinical signs observed in TS patients; for example, the SHOX (short stature homeobox-containing gene) responsible for the short stature characteristic of the patients. Association of renal abnormalities and TS varies from 33% to 70% (Matthies et al. 1971). These include horseshoe kidney, duplication of collecting system, ectopic kidney, ureteropelvic stenosis, renal agenesis and renal cysts. Two forms of cystic kidney disease have been described in

Full syndrome and subthreshold attention-deficit/hyperactivity disorder in a Korean community sample: comorbidity and temperament findings

The main objective of this study was to investigate the comorbid disorders and temperamental profiles of full syndrome and subthreshold attention-deficit/hyperactivity disorder (ADHD). A sample of 2,493 students was randomly selected from six representative elementary schools in Seoul, Korea. Among 245 children with full syndrome and subthreshold ADHD diagnosed by the diagnostic interview schedule for children-4th version, parents of 185 subjects (mean age 9.0 +/- 1.7 years) and of a random sample of 185 age- and gender-matched non-ADHD children have completed the parent's version of the children behavior checklist (CBCL) and the juvenile temperament and character inventory (JTCI). The prevalence rates of full syndrome and subthreshold ADHD were, respectively, 5.90% (95% confidence interval = 4.74-7.06) and 9.00% (95% confidence interval = 7.58-10.41). Subthreshold ADHD cases did not differ from full syndrome ADHD in any JTCI profile, showing high novelty seeking/low persistence/low self-directedness than controls. Subthreshold ADHD also showed increased risk for externalizing disorders and higher scores in eight CBCL scales (somatic complaints, anxious/depressed, social problems, attention problems, delinquent behaviors, aggressive behaviors, externalizing problems and total behavioral problems) compared to the controls. These results support the clinical relevance of subthreshold ADHD in Asian culture. Increased clinical awareness for children with subthreshold ADHD is needed.