Evaluation of Planning Dysfunction in Attention Deficit Hyperactivity Disorder and Autistic Spectrum Disorders Using the Zoo Map Task

ERIC Educational Resources Information Center

Salcedo-Marin, M. D.; Moreno-Granados, J. M.; Ruiz-Veguilla, M.; Ferrin, M.

2013-01-01

Attention-Deficit-Hyperactivity-Disorders (ADHD) and Autistic-Spectrum-Disorders (ASD) share overlapping clinical and cognitive features that may confuse the diagnosis. Evaluation of executive problems and planning dysfunction may aid the clinical diagnostic process and help disentangle the neurobiological process underlying these conditions. This…

Association of neuropsychiatric symptoms and sub-syndromes with cognitive impairment in community-dwelling Asian elderly.

PubMed

Xu, Xin; Ang, Seow Li; Hilal, Saima; Chan, Qun Lin; Wong, Tien Yin; Venketasubramanian, Narayanaswamy; Ikram, Mohammad Kamran; Chen, Christopher Li-Hsian

2015-11-01

To investigate the presence of neuropsychiatric symptoms (NPS) and sub-syndromes in elderly community-dwelling Asians with varying severity of cognitive impairment. Chinese and Malay participants (n = 613) from the Epidemiology of Dementia in Singapore (EDIS) Study aged ≥ 60 years underwent clinical examination, neuropsychological testing, and NPS assessment using the Neuropsychiatric Inventory (NPI). Diagnosis of no cognitive impairment (NCI), cognitive impairment-no dementia (CIND), including CIND-mild and CIND-moderate, and dementia were made using established criteria. A significant increase in the numbers of NPS was observed accompanying with increasing severity of cognitive impairment (p < 0.001). Compared to those with NCI/CIND-mild, participants with CIND-moderate [Odds ratio (OR): 4.2, 95% confidence interval (CI): 1.8-10.0] or dementia [OR: 9.2, 95% CI: 2.3-36.0] were more likely to have two or more neuropsychiatric sub-syndromes. Participants with CIND-moderate were more likely to have hyperactivity [OR: 2.0, 95% CI: 1.0-3.8] and apathy [OR: 2.9, 95% CI: 1.0-8.4] sub-syndromes, whereas patients with dementia were more likely to have psychosis [OR: 6.9, 95% CI: 2.4-20.1], affective (OR: 8.7, 95% CI: 1.8-42.9), and hyperactivity (OR: 5.4, 95% CI: 1.8-16.1). Furthermore, executive dysfunction and visual memory impairment were associated with the presence of three neuropsychiatric sub-syndromes; whist language and visuomotor speed impairment were related to the presence of two sub-syndromes. By contrast, impairment in attention, verbal memory, and visuoconstruction were not associated with any of the sub-syndromes. The presence of NPS and sub-syndromes increase with increasing severities of cognitive impairment, and different neuropsychiatric syndromes are associated with specific impairment on cognitive domains in community-dwelling Asian elderly.

Kindling and Oxidative Stress as Contributors to Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

PubMed Central

Jason, L. A.; Porter, N.; Herrington, J.; Sorenson, M.; Kubow, S.

2010-01-01

Myalgic Encephalomyelitis/chronic fatigue syndrome (ME/CFS) is one of the more complex illnesses involving multiple systems within the body. Onset of ME/CFS frequently occurs quickly, and many patients report a prior exposure to a viral infection. This debilitating illness can affect the immune, neuroendocrine, autonomic, and neurologic systems. Abnormal biological findings among some patients have included aberrant ion transport and ion channel activity, cortisol deficiency, sympathetic nervous system hyperactivity, EEG spike waves, left ventricular dysfunction in the heart, low natural killer cell cytotoxicity, and a shift from Th1 to Th2 cytokines. We propose that the kindling and oxidative stress theories provide a heuristic template for better understanding the at times conflicting findings regarding the etiology and pathophysiology of this illness. PMID:21253446

Experimental Evidences Supporting the Benefits of Exercise Training in Heart Failure.

PubMed

Ichige, Marcelo H A; Pereira, Marcelo G; Brum, Patrícia C; Michelini, Lisete C

2017-01-01

Heart Failure (HF), a common end point for many cardiovascular diseases, is a syndrome with a very poor prognosis. Although clinical trials in HF have achieved important outcomes in reducing mortality, little is known about functional mechanisms conditioning health improvement in HF patients. In parallel with clinical studies, basic science has been providing important discoveries to understand the mechanisms underlying the pathophysiology of HF, as well as to identify potential targets for the treatment of this syndrome. In spite of being the end-point of cardiovascular derangements caused by different etiologies, autonomic dysfunction, sympathetic hyperactivity, oxidative stress, inflammation and hormonal activation are common factors involved in the progression of this syndrome. Together these causal factors create a closed link between three important organs: brain, heart and the skeletal muscle. In the past few years, we and other groups have studied the beneficial effects of aerobic exercise training as a safe therapy to avoid the progression of HF. As summarized in this chapter, exercise training, a non-pharmacological tool without side effects, corrects most of the HF-induced neurohormonal and local dysfunctions within the brain, heart and skeletal muscles. These adaptive responses reverse oxidative stress, reduce inflammation, ameliorate neurohormonal control and improve both cardiovascular and skeletal muscle function, thus increasing the quality of life and reducing patients' morbimortality.

Hyperactivity: nature of the syndrome and its natural history.

PubMed

Aman, M G

1984-03-01

The composition of hyperactivity as a syndrome is discussed from a historical perspective, and the principal events leading to the recent emphasis on attentional characteristics of hyperactive children are summarized. Some of the major challenges to the legitimacy of hyperactivity as a valid syndrome are set forth, and after critical examination of the most influential work, it is concluded that hyperactivity has not been disproved. This is followed by a survey of the large follow-up literature dealing with the natural history of children diagnosed as hyperactive. It is noted that the manifestations of the syndrome appear to change with age but there is little indication that problems simply remit with maturity. The evidence indicates that hyperactivity, as diagnosed in the past, is often a serious disorder with long-term and far-reaching consequences for the children and their families. Multivariate studies are also discussed, as they have important implications for differential outcome. Different symptoms such as aggression, overactivity, and learning disability appear to contain unique information about current and future status, and therefore it appears useful to retain these distinctions rather than view such children as part of an undifferentiated group. It is unknown whether the recent guidelines for diagnosing Attention Deficit Disorder with Hyperactivity will alter or refine the outlook for children so identified, but this is an active area of research at present.

The Structure of Adult ADHD

PubMed Central

Adler, Lenard A.; Faraone, Stephen V.; Spencer, Thomas J.; Berglund, Patricia; Alperin, Samuel; Kessler, Ronald C.

2017-01-01

Although DSM-5 stipulates that symptoms of attention-deficit/hyperactivity disorder (ADHD) are the same for adults as children, clinical observations suggest that adults have more diverse deficits than children in higher-level executive functioning and emotional control. Previous psychometric analyses to evaluate these observations have been limited in ways addressed in the current study, which analyzes the structure of an expanded set of adult ADHD symptoms in 3 pooled U.S. samples: a national household sample, a sample of health plan members, and a sample of adults referred for evaluation at an adult ADHD clinic. Exploratory factor analysis found 4 factors representing executive dysfunction/inattention (including, but not limited to, all the DSM-5 inattentive symptoms, with non-DSM symptoms having factor loadings comparable to those of DSM symptoms), hyperactivity, impulsivity, and emotional dyscontrol. Empirically-derived multivariate symptom profiles were broadly consistent with the DSM-5 inattentive-only, hyperactive/impulsive-only, and combined presentations, but with inattention including executive dysfunction/inattention and hyperactivity-only limited to hyperactivity without high symptoms of impulsivity. These results show that executive dysfunction is as central as DSM-5 symptoms to adult ADHD, while emotional dyscontrol is more distinct but prominent resent in the combined presentation of adult ADHD. PMID:28211596

Neuropsychological Disorders in Children: Effects of Medication on Learning and Behavior in Hyperactivity.

ERIC Educational Resources Information Center

Hartlage, Lawrence C.; Telzrow, Cathy Fultz

1982-01-01

Hyperactivity is defined, and the relationships among minimal brain dysfunction, cerebral stimulants, and student characteristics such as activity level, attention and learning, and behavior are discussed. Hyperactive children's responses to the use of Ritalin and methylphenidate are reported. (CJ)

Stories that Promote Understanding of Children with Special Needs: A Look at Autism Spectrum Disorders, Tourette Syndrome, Down Syndrome, and Attention Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Maples, Lucy; Applin, Janet L.

2009-01-01

This article takes on the issue of understanding children with special needs by providing an annotated bibliography of stories about children with special needs. Four areas are addressed: autism spectrum disorders, Down syndrome, Tourette syndrome, and Attention Deficit/Hyperactivity Disorder. Each area is described with its typical…

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

PubMed

Mills, Kimberly I; Anderson, Jacqueline; Levy, Philip T; Cole, F Sessions; Silva, Jennifer N A; Kulkarni, Shashikant; Shinawi, Marwan

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Widespread abnormality of the γ-aminobutyric acid-ergic system in Tourette syndrome

PubMed Central

Bagic, Anto; Simmons, Janine M.; Mari, Zoltan; Bonne, Omer; Xu, Ben; Kazuba, Diane; Herscovitch, Peter; Carson, Richard E.; Murphy, Dennis L.; Drevets, Wayne C.; Hallett, Mark

2012-01-01

Dysfunction of the γ-aminobutyric acid-ergic system in Tourette syndrome may conceivably underlie the symptoms of motor disinhibition presenting as tics and psychiatric manifestations, such as attention deficit hyperactivity disorder and obsessive–compulsive disorder. The purpose of this study was to identify a possible dysfunction of the γ-aminobutyric acid-ergic system in Tourette patients, especially involving the basal ganglia-thalamo-cortical circuits and the cerebellum. We studied 11 patients with Tourette syndrome and 11 healthy controls. Positron emission tomography procedure: after injection of 20 mCi of [11C]flumazenil, dynamic emission images of the brain were acquired. Structural magnetic resonance imaging scans were obtained to provide an anatomical framework for the positron emission tomography data analysis. Images of binding potential were created using the two-step version of the simplified reference tissue model. The binding potential images then were spatially normalized, smoothed and compared between groups using statistical parametric mapping. We found decreased binding of GABAA receptors in Tourette patients bilaterally in the ventral striatum, globus pallidus, thalamus, amygdala and right insula. In addition, the GABAA receptor binding was increased in the bilateral substantia nigra, left periaqueductal grey, right posterior cingulate cortex and bilateral cerebellum. These results are consistent with the longstanding hypothesis that circuits involving the basal ganglia and thalamus are disinhibited in Tourette syndrome patients. In addition, the abnormalities in GABAA receptor binding in the insula and cerebellum appear particularly noteworthy based upon recent evidence implicating these structures in the generation of tics. PMID:22577221

[Tics and Gilles de la Tourette syndrome].

PubMed

Tijero-Merino, B; Gómez-Esteban, J C; Zarranz, J J

2009-01-23

Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or sounds (phonic tics). It is often associated with psychiatric comorbidities, mainly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. Given its diverse presentation, Tourette's syndrome can almost mimic many hyperkinetic disorders, making the diagnosis challenging at times. The etiology of this syndrome is thought to be related to basal ganglia dysfunction and many clues have been pursued, both genetic and environmental factors, but no compelling major contribution to the pathogenesis of the disease has yet emerged. Treatment can be behavioural, pharmacologic, or surgical, and is dictated by the most incapacitating symptoms. Alpha-2-adrenergic agonists are the first line of pharmacologic therapy, but dopamine-receptor-blocking drugs are required for multiple, complex tics. Dopamine-receptor-blocking drugs are associated with potential side effects. Appropriate diagnosis and treatment can substantially improve quality of life and psychosocial functioning in affected patients.

[Analysis of Applying Chinese Medical Clinical Pathway for Treating Attention-deficit Hyperactivity Disorder].

PubMed

Guo, Yu-qing; Han, Xin-min; Zhu, Xian-kang; Zhou, Zheng; Ma, Bing-xiang; Zhang, Bao-qing; Li, Yan-ning; Feng, Yu-lin; Xue, Zheng; Wang, Yong-hong; Li, Yi-min; Jiang, Zhi-mei; Xu, Jin-xing; Yue, Wei-zhen; Xiang, Xi-xiong

2015-12-01

To evaluate the application effect of Chinese medical clinical pathway for treating attention-deficit hyperactivity disorder (ADHD), and to provide evidence for further improving clinical pathways. Totally 270 ADHD children patients were recruited and treated at pediatrics clinics of 9 cooperative hospitals from December 2011 to December 2012. The treatment course for all was 3 months. Scores of attention deficit and hyperactivity rating scale, scores of behavior, Conners index of hyperactivity (CIH), and Chinese medical syndrome scores were compared between before and after treatment. The efficacy difference in various sexes, ages, and disease courses were evaluated by judging standards for Chinese medical syndrome and ADHD. Fifteen children patients who entered clinical pathway dropped out, and the rest 255 completed this trial. Compared with before treatment, total scores of attention deficit and hyperactivity rating scale, scores of attention deficit and hyperactivity rating scale, CIH, and Chinese medical syndrome scores obviously decreased (all P < 0.01). The total effective rate in disease efficacy was 87.8% (224/255 cases), and the total effective rate in Chinese medical syndrome curative effect was 87.5% (223/255 cases). The clinical curative effect was not influenced by age, gender, or course of disease when statistically analyzed from judging standards for Chinese medical syndrome or for disease efficacy. Intervention by Chinese medical clinical pathway could improve ADHD patients' symptoms, and its efficacy was not influenced by sex, age, or course of disease.

Altered brain structural networks in attention deficit/hyperactivity disorder children revealed by cortical thickness.

PubMed

Liu, Tian; Chen, Yanni; Li, Chenxi; Li, Youjun; Wang, Jue

2017-07-04

This study investigated the cortical thickness and topological features of human brain anatomical networks related to attention deficit/hyperactivity disorder. Data were collected from 40 attention deficit/hyperactivity disorder children and 40 normal control children. Interregional correlation matrices were established by calculating the correlations of cortical thickness between all pairs of cortical regions (68 regions) of the whole brain. Further thresholds were applied to create binary matrices to construct a series of undirected and unweighted graphs, and global, local, and nodal efficiencies were computed as a function of the network cost. These experimental results revealed abnormal cortical thickness and correlations in attention deficit/hyperactivity disorder, and showed that the brain structural networks of attention deficit/hyperactivity disorder subjects had inefficient small-world topological features. Furthermore, their topological properties were altered abnormally. In particular, decreased global efficiency combined with increased local efficiency in attention deficit/hyperactivity disorder children led to a disorder-related shift of the network topological structure toward regular networks. In addition, nodal efficiency, cortical thickness, and correlation analyses revealed that several brain regions were altered in attention deficit/hyperactivity disorder patients. These findings are in accordance with a hypothesis of dysfunctional integration and segregation of the brain in patients with attention deficit/hyperactivity disorder and provide further evidence of brain dysfunction in attention deficit/hyperactivity disorder patients by observing cortical thickness on magnetic resonance imaging.

Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

ERIC Educational Resources Information Center

Oliver, Chris; Berg, Katy; Moss, Jo; Arron, Kate; Burbidge, Cheryl

2011-01-01

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in…

Pediatric neurological syndromes and inborn errors of purine metabolism.

PubMed

Camici, Marcella; Micheli, Vanna; Ipata, Piero Luigi; Tozzi, Maria Grazia

2010-02-01

This review is devised to gather the presently known inborn errors of purine metabolism that manifest neurological pediatric syndromes. The aim is to draw a comprehensive picture of these rare diseases, characterized by unexpected and often devastating neurological symptoms. Although investigated for many years, most purine metabolism disorders associated to psychomotor dysfunctions still hide the molecular link between the metabolic derangement and the neurological manifestations. This basically indicates that many of the actual functions of nucleosides and nucleotides in the development and function of several organs, in particular central nervous system, are still unknown. Both superactivity and deficiency of phosphoribosylpyrophosphate synthetase cause hereditary disorders characterized, in most cases, by neurological impairments. The deficiency of adenylosuccinate lyase and 5-amino-4-imidazolecarboxamide ribotide transformylase/IMP cyclohydrolase, both belonging to the de novo purine synthesis pathway, is also associated to severe neurological manifestations. Among catabolic enzymes, hyperactivity of ectosolic 5'-nucleotidase, as well as deficiency of purine nucleoside phosphorylase and adenosine deaminase also lead to syndromes affecting the central nervous system. The most severe pathologies are associated to the deficiency of the salvage pathway enzymes hypoxanthine-guanine phosphoribosyltransferase and deoxyguanosine kinase: the former due to an unexplained adverse effect exerted on the development and/or differentiation of dopaminergic neurons, the latter due to a clear impairment of mitochondrial functions. The assessment of hypo- or hyperuricemic conditions is suggestive of purine enzyme dysfunctions, but most disorders of purine metabolism may escape the clinical investigation because they are not associated to these metabolic derangements. This review may represent a starting point stimulating both scientists and physicians involved in the study of neurological dysfunctions caused by inborn errors of purine metabolism with the aim to find novel therapeutical approaches. Copyright (c) 2009 Elsevier Ltd. All rights reserved.

Understanding Tourette Syndrome: An Educators' Guide for the Inclusive Classroom.

ERIC Educational Resources Information Center

Knight, Diane

1999-01-01

This guide to Tourette Syndrome addresses prevalence and etiology, associated behaviors (such as obsessive-compulsive disorder and attention deficit hyperactivity disorder), treatment approaches and medication, and classroom management techniques (such as handling tic release/stress and managing hyperactivity/controlling attentional impulses). (DB)

Cushing's Syndrome and Hypothalamic-Pituitary-Adrenal Axis Hyperactivity in Chronic Central Serous Chorioretinopathy.

PubMed

van Haalen, Femke M; van Dijk, Elon H C; Dekkers, Olaf M; Bizino, Maurice B; Dijkman, Greet; Biermasz, Nienke R; Boon, Camiel J F; Pereira, Alberto M

2018-01-01

Central serous chorioretinopathy (CSC), a specific form of macular degeneration, has been reported as presenting manifestation of Cushing's syndrome. Furthermore, CSC has been associated with both exogenous hypercortisolism and endogenous Cushing's syndrome. It is important to know whether CSC patients should be screened for Cushing's syndrome. Although hypothalamic-pituitary-adrenal (HPA) axis hyperactivity in CSC has been suggested, no detailed evaluation of the HPA axis has been performed in a large cohort of CSC patients. This study aimed to investigate whether Cushing's syndrome prevalence is increased among chronic CSC (cCSC) patients and whether detailed endocrinological phenotyping indicates hyperactivity of the HPA axis. Cross-sectional study. 86 cCSC patients and 24 controls. Prevalence of Cushing's syndrome, HPA axis activity. None of the cCSC patients met the clinical or biochemical criteria of Cushing's syndrome. However, compared to controls, HPA axis activity was increased in cCSC patients, reflected by higher 24 h urinary free cortisol, and accompanying higher waist circumference and diastolic blood pressure, whereas circadian cortisol rhythm and feedback were not different. Chronic CSC patients did not report more stress or stress-related problems on questionnaires. No case of Cushing's syndrome was revealed in a large cohort of cCSC patients. Therefore, we advise against screening for Cushing's syndrome in CSC patients, unless additional clinical features are present. However, our results indicate that cCSC is associated with hyperactivity of the HPA axis, albeit not accompanied with perception of more psychosocial stress.

Cranial nerve vascular compression syndromes of the trigeminal, facial and vago-glossopharyngeal nerves: comparative anatomical study of the central myelin portion and transitional zone; correlations with incidences of corresponding hyperactive dysfunctional syndromes.

PubMed

Guclu, Bulent; Sindou, Marc; Meyronet, David; Streichenberger, Nathalie; Simon, Emile; Mertens, Patrick

2011-12-01

The aim of this study was to evaluate the anatomy of the central myelin portion and the central myelin-peripheral myelin transitional zone of the trigeminal, facial, glossopharyngeal and vagus nerves from fresh cadavers. The aim was also to investigate the relationship between the length and volume of the central myelin portion of these nerves with the incidences of the corresponding cranial dysfunctional syndromes caused by their compression to provide some more insights for a better understanding of mechanisms. The trigeminal, facial, glossopharyngeal and vagus nerves from six fresh cadavers were examined. The length of these nerves from the brainstem to the foramen that they exit were measured. Longitudinal sections were stained and photographed to make measurements. The diameters of the nerves where they exit/enter from/to brainstem, the diameters where the transitional zone begins, the distances to the most distal part of transitional zone from brainstem and depths of the transitional zones were measured. Most importantly, the volume of the central myelin portion of the nerves was calculated. Correlation between length and volume of the central myelin portion of these nerves and the incidences of the corresponding hyperactive dysfunctional syndromes as reported in the literature were studied. The distance of the most distal part of the transitional zone from the brainstem was 4.19  ±  0.81 mm for the trigeminal nerve, 2.86  ±  1.19 mm for the facial nerve, 1.51  ±  0.39 mm for the glossopharyngeal nerve, and 1.63  ±  1.15 mm for the vagus nerve. The volume of central myelin portion was 24.54  ±  9.82 mm(3) in trigeminal nerve; 4.43  ±  2.55 mm(3) in facial nerve; 1.55  ±  1.08 mm(3) in glossopharyngeal nerve; 2.56  ±  1.32 mm(3) in vagus nerve. Correlations (p  < 0.001) have been found between the length or volume of central myelin portions of the trigeminal, facial, glossopharyngeal and vagus nerves and incidences of the corresponding diseases. At present it is rather well-established that primary trigeminal neuralgia, hemifacial spasm and vago-glossopharyngeal neuralgia have as one of the main causes a vascular compression. The strong correlations found between the lengths and volumes of the central myelin portions of the nerves and the incidences of the corresponding diseases is a plea for the role played by this anatomical region in the mechanism of these diseases.

The effects of awareness training on tics in a young boy with Tourette syndrome, Asperger syndrome, and attention deficit hyperactivity disorder.

PubMed

Wiskow, Katie M; Klatt, Kevin P

2013-01-01

Previous research has shown habit reversal training (HRT) to be effective in reducing tics. In some studies, tics have been reduced by implementing only a few components of HRT. The current study investigated the first step, awareness training, for treating tics in a young boy with Asperger syndrome, Tourette syndrome, and attention deficit hyperactivity disorder. The results showed a reduction in all tics. © Society for the Experimental Analysis of Behavior.

Attention-deficit/hyperactivity disorder dimensions and sluggish cognitive tempo symptoms in relation to college students' sleep functioning.

PubMed

Becker, Stephen P; Luebbe, Aaron M; Langberg, Joshua M

2014-12-01

This study examined separate inattentive, hyperactive, and impulsive dimensions of attention-deficit/hyperactivity disorder (ADHD), as well as sluggish cognitive tempo (SCT) symptoms, in relation to college students' sleep functioning. Participants were 288 college students (ages 17-24; 65 % female; 90 % non-Hispanic White; 12 % self-reported having an ADHD diagnoses) who completed measures of ADHD/SCT symptoms and sleep functioning. Participants reported obtaining an average of 6.8 h of sleep per night (only 26 % reported obtaining ≥8 h of sleep) and having a sleep onset latency of 25 min. 63 % were classified as "poor sleepers," and poor sleepers had higher rates of ADHD and SCT symptoms than "good sleepers". Path analysis controlling for ADHD status and psychiatric medication use was used to determine associations between psychopathology and sleep functioning domains. Above and beyond covariates and other psychopathologies, hyperactivity (but not impulsivity) was significantly associated with poorer sleep quality, longer sleep latency, shorter sleep duration, and more use of sleep medications. SCT symptoms (but not inattention) were significantly associated with poorer sleep quality and increased nighttime sleep disturbance (e.g., having bad dreams, waking up in the middle of the night, feeling too cold or too hot). Both inattention and SCT were associated with greater daytime dysfunction. Regression analyses demonstrated that hyperactivity predicted sleep quality above and beyond the influence of daytime dysfunction, and inattention and SCT predicted daytime dysfunction above and beyond sleep quality. Further studies are needed to examine the interrelations of nighttime sleep functioning, ADHD/SCT, and daytime dysfunction, as well to elucidate mechanisms contributing to related functional impairments.

Exercise: Applications to Childhood ADHD

ERIC Educational Resources Information Center

Wigal, Sharon B.; Emmerson, Natasha; Gehricke, Jean-G.; Galassetti, Pietro

2013-01-01

ADHD is the most common neurobehavioral disorder of childhood, presenting with pervasive and impairing symptoms of inattention, hyperactivity, impulsivity, or a combination. The leading hypothesis of the underlying physiology of this disorder of inattention and/or hyperactivity-impulsivity is based on catecholamine dysfunction. Pharmacotherapy…

Guanfacine Use in Children With Down Syndrome and Comorbid Attention-Deficit Hyperactivity Disorder (ADHD) With Disruptive Behaviors.

PubMed

Capone, George T; Brecher, Liza; Bay, Mihee

2016-07-01

The purpose of this study was to characterize children with Down syndrome and attention-deficit hyperactivity disorder (ADHD) with disruptive behaviors using the Aberrant Behavior Checklist (ABC), and to measure the treatment effects of guanfacine on maladaptive behaviors. Subjects were enrolled from a group of outpatients who visited our clinic between 2002 and 2007. Subjects (N = 23) were children with Down syndrome ages 4 to 12 years (mean 7.4 ± 4.1), who met criteria for ADHD according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition The Aberrant Behavior Checklist Irritability and Hyperactivity subscales each showed a significant decrease (P < .0001) at follow-up. The mean decline on Hyperactivity was 25% (-7.8 points), and for Irritability, 25% (-3.5 points). The mean composite score also declined by 24% (-12 points). Effect size differences on Irritability were moderate, whereas differences on Hyperactivity and composite score appeared large. Clinically important target behaviors were reduced. Medication was generally well tolerated and the incidence of treatment emergent side effects remained low. © The Author(s) 2016.

Neuropsychological Functioning in Children with Tourette Syndrome with and without Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Sukhodolsky, Denis G.; Landeros-Weisenberger, Angeli; Scahill, Lawrence; Leckman, James F.; Schultz, Robert T.

2010-01-01

Objective: Neuropsychological functioning in children with Tourette syndrome (TS) has been characterized by subtle deficits in response inhibition, visual-motor integration, and fine-motor coordination. The association of these deficits with the tics of the TS versus co-occurring attention-deficit/hyperactivity disorder (ADHD) has not been well…

Caregiver Survey of Pharmacotherapy to Treat Attention Deficit/Hyperactivity Disorder in Individuals with Williams Syndrome

ERIC Educational Resources Information Center

Martens, Marilee A.; Seyfer, Daisha L.; Andridge, Rebecca R.; Foster, Jessica E. A.; McClure, Kelsey E.; Coury, Daniel L.

2013-01-01

Williams syndrome (WS) is a genetic condition characterized by a unique neurocognitive and behavioral profile, including increased incidence of attention deficit/hyperactivity disorder (ADHD). The purpose of the present study was to examine the perceived helpfulness and side effects of medications used to treat ADHD (methylphenidate class,…

New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality.

PubMed

Lin, John C; Spinella, Philip C; Fitzgerald, Julie C; Tucci, Marisa; Bush, Jenny L; Nadkarni, Vinay M; Thomas, Neal J; Weiss, Scott L

2017-01-01

To describe the epidemiology, morbidity, and mortality of new or progressive multiple organ dysfunction syndrome in children with severe sepsis. Secondary analysis of a prospective, cross-sectional, point prevalence study. International, multicenter PICUs. Pediatric patients with severe sepsis identified on five separate days over a 1-year period. None. Of 567 patients from 128 PICUs in 26 countries enrolled, 384 (68%) developed multiple organ dysfunction syndrome within 7 days of severe sepsis recognition. Three hundred twenty-seven had multiple organ dysfunction syndrome on the day of sepsis recognition. Ninety-one of these patients developed progressive multiple organ dysfunction syndrome, whereas an additional 57 patients subsequently developed new multiple organ dysfunction syndrome, yielding a total proportion with severe sepsis-associated new or progressive multiple organ dysfunction syndrome of 26%. Hospital mortality in patients with progressive multiple organ dysfunction syndrome was 51% compared with patients with new multiple organ dysfunction syndrome (28%) and those with single-organ dysfunction without multiple organ dysfunction syndrome (10%) (p < 0.001). Survivors of new or progressive multiple organ dysfunction syndrome also had a higher frequency of moderate to severe disability defined as a Pediatric Overall Performance Category score of greater than or equal to 3 and an increase of greater than or equal to 1 from baseline: 22% versus 29% versus 11% for progressive, new, and no multiple organ dysfunction syndrome, respectively (p < 0.001). Development of new or progressive multiple organ dysfunction syndrome is common (26%) in severe sepsis and is associated with a higher risk of morbidity and mortality than severe sepsis without new or progressive multiple organ dysfunction syndrome. Our data support the use of new or progressive multiple organ dysfunction syndrome as an important outcome in trials of pediatric severe sepsis although efforts are needed to validate whether reducing new or progressive multiple organ dysfunction syndrome leads to improvements in more definitive morbidity and mortality endpoints.

Early life stress induces attention-deficit hyperactivity disorder (ADHD)-like behavioral and brain metabolic dysfunctions: functional imaging of methylphenidate treatment in a novel rodent model.

PubMed

Bock, J; Breuer, S; Poeggel, G; Braun, K

2017-03-01

In a novel animal model Octodon degus we tested the hypothesis that, in addition to genetic predisposition, early life stress (ELS) contributes to the etiology of attention-deficit hyperactivity disorder-like behavioral symptoms and the associated brain functional deficits. Since previous neurochemical observations revealed that early life stress impairs dopaminergic functions, we predicted that these symptoms can be normalized by treatment with methylphenidate. In line with our hypothesis, the behavioral analysis revealed that repeated ELS induced locomotor hyperactivity and reduced attention towards an emotionally relevant acoustic stimulus. Functional imaging using ( 14 C)-2-fluoro-deoxyglucose-autoradiography revealed that the behavioral symptoms are paralleled by metabolic hypoactivity of prefrontal, mesolimbic and subcortical brain areas. Finally, the pharmacological intervention provided further evidence that the behavioral and metabolic dysfunctions are due to impaired dopaminergic neurotransmission. Elevating dopamine in ELS animals by methylphenidate normalized locomotor hyperactivity and attention-deficit and ameliorated brain metabolic hypoactivity in a dose-dependent manner.

Helping the Hyperactive Child: Caring about Kids.

ERIC Educational Resources Information Center

National Inst. of Mental Health (DHHS), Rockville, MD.

This booklet describes characteristics of hyperactive children and discusses identification procedures, causes, treatment, and future developments in this area. Actual diagnosis of hyperkinetic behavior syndrome, commonly referred to as hyperactivity, is complex and should include a thorough examination by a pediatrician, and sometimes a child…

Differences in individual susceptibility affect the development of trigeminal neuralgia☆

PubMed Central

Duransoy, Yusuf Kurtuluş; Mete, Mesut; Akçay, Emrah; Selçuki, Mehmet

2013-01-01

Trigeminal neuralgia is a syndrome due to dysfunctional hyperactivity of the trigeminal nerve, and is characterized by a sudden, usually unilateral, recurrent lancinating pain arising from one or more divisions of the nerve. The most accepted pathogenetic mechanism for trigeminal neuralgia is compression of the nerve at its dorsal root entry zone or in its distal course. In this paper, we report four cases with trigeminal neuralgia due to an unknown mechanism after an intracranial intervention. The onset of trigeminal neuralgia after surgical interventions that are unrelated to the trigeminal nerve suggests that in patients with greater individual susceptibility, nerve contact with the vascular structure due to postoperative pressure and changes in cerebrospinal fluid flow may cause the onset of pain. PMID:25206428

Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?

PubMed

Saini, Arushi Gahlot; Singhi, Pratibha; Sahu, Jitendra Kumar; Ganesan, Saptharishi L; Vyas, Sameer; Rao, Sandeep; Sachdeva, Man Updesh Singh

2014-08-01

Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal α-N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations. © The Author(s) 2013.

Stimulus-Dependent Dopamine Release in Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Sikstrom, Sverker; Soderlund, Goran

2007-01-01

Attention-deficit/hyperactivity disorder (ADHD) is related to an attenuated and dysfunctional dopamine system. Normally, a high extracellular dopamine level yields a tonic dopaminergic input that down-regulates stimuli-evoked phasic dopamine responses through autoreceptors. Abnormally low tonic extracellular dopamine in ADHD up-regulates the…

Parental Age and Assisted Reproductive Technology in Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, and Tourette Syndrome in a Japanese Population

ERIC Educational Resources Information Center

Shimada, Takafumi; Kitamoto, Atsushi; Todokoro, Ayako; Ishii-Takahashi, Ayaka; Kuwabara, Hitoshi; Kim, Soo-Yung; Watanabe, Kei-ichiro; Minowa, Iwao; Someya, Toshikazu; Ohtsu, Hiroshi; Osuga, Yutaka; Kano, Yukiko; Kasai, Kiyoto; Kato, Nobumasa; Sasaki, Tsukasa

2012-01-01

We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of…

Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

ERIC Educational Resources Information Center

Mathews, Carol A.; Grados, Marco A.

2011-01-01

Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

Anxiety and Depression Symptoms in Children with Asperger Syndrome Compared with Attention-Deficit/Hyperactivity Disorder and Depressive Disorder

ERIC Educational Resources Information Center

Park, Subin; Park, Min-Hyeon; Kim, Hyo Jin; Yoo, Hee Jeong

2013-01-01

The objective of this study was to examine (a) anxiety and depression symptoms in children with Asperger syndrome (AS) compared to children with attention-deficit/hyperactivity disorder (ADHD) and children with depressive disorder; (b) parental anxiety and depressive symptoms in the three groups; and (c) the association between the anxiety and…

Prefrontal Dysfunction in Attention-Deficit/Hyperactivity Disorder as Measured by Near-Infrared Spectroscopy

ERIC Educational Resources Information Center

Negoro, Hideki; Sawada, Masayuki; Iida, Junzo; Ota, Toyosaku; Tanaka, Shohei; Kishimoto, Toshifumi

2010-01-01

Recent developments in near-infrared spectroscopy (NIRS) have enabled non-invasive clarification of brain functions in psychiatric disorders with measurement of hemoglobin concentrations as cerebral blood volume. Twenty medication-naive children with attention-deficit/hyperactivity disorder (ADHD) and 20 age- and sex-matched healthy control…

[Neuropsychological subtypes of the inattention and hyperactivity syndrome].

PubMed

Etchepareborda, M C

1999-02-01

One of the commonest neurological development disorders is the syndrome of inattention with hyperactivity, ADHD. The complex neurobiological network which intervenes in paying attention permits us to maintain a basal state of alertness, to focalize and maintain attention for long periods, select the stimulus-signal required and analyze its components, and also to simultaneously carry out processes of input-output and performance (tutorial, controlling). Damage to the various systems participating in 'paying attention' leads to a syndrome of inattention, with or without hyperactivity. The distinction into clinical sub-types (combined, mainly lacking attention or mainly hyperactive and impulsive) gives a primary differentiation of the syndrome. However, from the neuropsychological point of view, some degree of heterogeneity within the groups which defines academic behaviour and conduct may also be recognized. This type of study permits a more specific neuro-cognitive and pharmacological approach. Some clinical characteristics of the syndrome of inattention improve with different drugs, such as the state of alterness (methylphenidate), impulsivity (pipamperone) and selective attention (tiapride). However, this treatment is symptomatic and in most cases is useful to accompany the ultimate biological development of the neocortical control mechanisms. A neuro-cognitive approach which permits acquisition of habits of control, functional strategies, sequential planning of activities and per- and post-functional surveillance is fundamental. The EFE programme for training executive functions is directed towards working with the damaged processing mechanisms in each neuropsychological subtype.

Tourette Syndrome: Overview and Classroom Interventions. A Complex Neurobehavioral Disorder Which May Involve Learning Problems, Attention Deficit Hyperactivity Disorder, Obsessive Compulsive Symptoms, and Stereotypical Behaviors.

ERIC Educational Resources Information Center

Fisher, Ramona A.; Collins, Edward C.

Tourette Syndrome is conceptualized as a neurobehavioral disorder, with behavioral aspects that are sometimes difficult for teachers to understand and deal with. The disorder has five layers of complexity: (1) observable multiple motor, vocal, and cognitive tics and sensory involvement; (2) Attention Deficit Hyperactivity Disorder; (3)…

Behavioural changes induced by N,N-dimethyl-tryptamine in rodents.

PubMed Central

Jenner, P.; Marsden, C. D.; Thanki, C. M.

1980-01-01

1 N,N-Dimethyltryptamine (DMT) in pargyline pretreated rodents induced a dose-dependent behavioural syndrome consisting of hyperactivity, prostration and hindlimb abduction, mild tremor, Straub tail, retropulsion and jerking. 2 In rats pretreated with pargyline, the behavioural syndrome induced by DMT differed from that induced by L-tryptophan or quipazine, in the lack of forepaw treading and head-weaving and in the presence of only mild tremor. 3 The hyperactivity component of the DMT-induced behavioural syndrome in pargyline-pretreated mice was potentiated by cyproheptadine, methergoline, and mianserin, inhibited by cinanserin, haloperidol, pimozide, methiothepin and propranolol, and not affected by 501C67-sulphate and methysergide. 4 The maximal behavioural changes induced by DMT in rats, other than hyperactivity, were unaffected by pretreatment with cyproheptadine, methysergide, and cinanserin. However, propranolol reduced the intensity of all behavioural effects apart from body jerking, and methergoline decreased the duration of prostration. Phenoxybenzamine and haloperidol, in contrast, enhanced prostration. 5 DMT plus pargyline did not induce circling behaviour in mice with a unilateral 6-hydroxy-dopamine lesion of the nigro-striatal pathway. 6 The DMT-induced behavioural syndrome appears to consist of two components, (a) hyperactivity and (b) other behavioural changes. They differ in their response to drugs affecting brain monoamines. The hyperactivity component may be expressed via dopamine mechanisms, but the other behavioural changes are not. The two behaviours do not respond consistently to drugs believed to alter brain 5-hydroxytryptamine function. PMID:6769527

Identification of Autism Spectrum Disorders Using the Child Behavior Checklist in Singapore

ERIC Educational Resources Information Center

Ooi, Yoon Phaik; Rescorla, Leslie; Ang, Rebecca P.; Woo, Bernardine; Fung, Daniel S. S.

2011-01-01

We tested the ability of the 2001 CBCL syndromes to discriminate among 86 children with Autism Spectrum Disorder (ASD), 117 children with Attention Deficit Hyperactivity Disorder-Inattentive type, 426 children with Attention Deficit Hyperactivity Disorder-Hyperactive-Impulsive or Combined type, 200 clinically referred children who did not receive…

Career Beliefs and Job Satisfaction in Adults with Symptoms of Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Painter, Carol A.; Prevatt, Frances; Welles, Theresa

2008-01-01

The authors evaluated dysfunctional career beliefs and subsequent low job satisfaction in adults reporting significant symptoms of attention-deficit/hyperactivity disorder (ADHD). Participants (N = 81) completed the Adult Attention Deficit Disorders Evaluation Scale (S. B. McCarney & P. D. Anderson, 1996), the Career Thoughts Inventory (J. P.…

ADHD: Misconceptions and the Four Rules of Treatment

ERIC Educational Resources Information Center

Kutscher, Martin L.

2008-01-01

Contrary to popular opinion, attention deficit hyperactivity disorder (ADHD) is not just about hyperactive people who have short attention spans. ADHD is a disorder that involves difficult problems on a wide range of "executive dysfunction," a wide range of co-occuring conditions, and family problems. People need to recognize that ADHD is not just…

Correlates for Academic Performance and School Functioning among Youths with and without Persistent Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Wu, Szu-Ying; Gau, Susan Shur-Fen

2013-01-01

Childhood attention-deficit hyperactivity disorder (ADHD) is associated with academic underachievement and school dysfunction. Little is known whether such association varies with the persistence of ADHD symptoms. The authors investigated school functioning among youths with and without persistent ADHD and identified the clinical correlates for…

Does ADHD Matter? Examining Attention Deficit and Hyperactivity Disorder on the Likelihood of Recidivism among Detained Youth

ERIC Educational Resources Information Center

Gordon, Jill A.; Diehl, Robyn L.; Anderson, Laura

2012-01-01

There is limited research regarding attention deficit and hyperactivity disorder (ADHD) among youth in the juvenile justice system, but the existing research demonstrates higher rates of difficulties, including substance abuse, parental dysfunction, and school issues. There is, however, little knowledge regarding the impact of detainment on…

mTOR, a Potential Target to Treat Autism Spectrum Disorder.

PubMed

Sato, Atsushi

2016-01-01

Mammalian target of rapamycin (mTOR) is a key regulator in various cellular processes, including cell growth, gene expression, and synaptic functions. Autism spectrum disorder (ASD) is frequently accompanied by monogenic disorders, such as tuberous sclerosis complex, phosphatase and tensin homolog tumor hamartoma syndrome, neurofibromatosis 1, and fragile X syndrome, in which mTOR is hyperactive. Mutations in the genes involved in the mTOR-mediated signaling pathway have been identified in some cases of syndromic ASD. Evidences indicate a pathogenic role for hyperactive mTOR-mediated signaling in ASD associated with these monogenic disorders, and mTOR inhibitors are a potential pharmacotherapy for ASD. Abnormal synaptic transmission through metabotropic glutamate receptor 5 may underlie in a part of ASD associated with hyperactive mTOR-mediated signaling. In this review, the relationship between mTOR and ASD is discussed.

mTOR, a Potential Target to Treat Autism Spectrum Disorder

PubMed Central

Sato, Atsushi

2016-01-01

Mammalian target of rapamycin (mTOR) is a key regulator in various cellular processes, including cell growth, gene expression, and synaptic functions. Autism spectrum disorder (ASD) is frequently accompanied by monogenic disorders, such as tuberous sclerosis complex, phosphatase and tensin homolog tumor hamartoma syndrome, neurofibromatosis 1, and fragile X syndrome, in which mTOR is hyperactive. Mutations in the genes involved in the mTOR-mediated signaling pathway have been identified in some cases of syndromic ASD. Evidences indicate a pathogenic role for hyperactive mTOR-mediated signaling in ASD associated with these monogenic disorders, and mTOR inhibitors are a potential pharmacotherapy for ASD. Abnormal synaptic transmission through metabotropic glutamate receptor 5 may underlie in a part of ASD associated with hyperactive mTOR-mediated signaling. In this review, the relationship between mTOR and ASD is discussed. PMID:27071790

The Occupational Transition Process to Upper Secondary School, Further Education and/or Work in Sweden: As Described by Young Adults with Asperger Syndrome and Attention Deficit Hyperactivity Disorder

ERIC Educational Resources Information Center

Baric, Vedrana Bolic; Hemmingsson, Helena; Hellberg, Kristina; Kjellberg, Anette

2017-01-01

The aim was to describe the occupational transition process to upper secondary school, further education and/or work, and to discover what support influences the process from the perspectives of young adults with Asperger syndrome or attention deficit/hyperactivity disorder. This qualitative study was performed in Sweden and comprised interviews…

Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex.

PubMed

D'Agati, Elisa; Moavero, Romina; Cerminara, Caterina; Curatolo, Paolo

2009-10-01

The neurobiological basis of attention-deficit hyperactivity disorder (ADHD) in tuberous sclerosis complex is still largely unknown. Cortical tubers may disrupt several brain networks that control different types of attention. Frontal lobe dysfunction due to seizures or epileptiform electroencephalographic discharges may perturb the development of brain systems that underpin attentional and hyperactive functions during a critical early stage of brain maturation. Comorbidity of attention-deficit hyperactivity disorder (ADHD) with mental retardation and autism spectrum disorders is frequent in children with tuberous sclerosis. Attention-deficit hyperactivity disorder (ADHD) may also reflect a direct effect of the abnormal genetic program. Treatment of children with tuberous sclerosis complex with combined symptoms of attention-deficit hyperactivity disorder (ADHD) and epilepsy may represent a challenge for clinicians, because antiepileptic therapy and drugs used to treat attention-deficit hyperactivity disorder (ADHD) may aggravate the clinical picture of each other.

Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome.

PubMed

Savic, Ivanka

2012-04-01

Klinefelter syndrome, 47,XXY is the most common chromosomal aberration among men. It represents a naturally occurring human model for studies of both X-chromosome gene expression and potential androgen effects on brain development and function. The aim of this review is to combine available brain imaging and behavioral data to provide an overview of what we have learned about the neural underpinnings of cognitive, emotional and behavioral dysunctions in Klinefelter syndrome. The behavioral phenotype of 47,XXY is characterized by language, executive and psychomotor dysfunction, as well as socioemotional impairment. The prevalence of schizophrenia, attention deficit hyperactivity disorder, autism spectrum disorders and affective regulation problems is increased. Neuroimaging studies of children and adults with Klinefelter syndrome syndrome show characteristic structural changes from typical individuals. There are increases in the grey matter volume of the sensorimotor and parietooccipital regions, as well as significant reductions in amygdala, hippocampal, insular, temporal and inferior-frontal grey matter volumes. Widespread white matter abnormalities have been revealed, with reductions in some areas (including anterior cingulate, bilaterally) but increases in others (such as left parietal lobe). Mechanisms underlying these developmental anomalies could include imbalance in gene dosage relative to typical men or women, as well as the potential consequence of endocrinological deficits. Studies of Klinefelter syndrome could generate important information about the impact of anomalies in sex chromosome gene regulation on the development of cerebral grey and white matter and, ultimately, on human behavior.

Dysfunctional elimination syndrome in three generations of one family: might it be hereditary?

PubMed

Yucel, Selcuk; Ates, Mutlu; Erdogru, Tibet; Baykara, Mehmet

2004-12-01

Dysfunctional elimination syndrome is a diagnosis gaining popularity in pediatric urologic published studies. However, its etiopathogenesis is still unclear. We report a family with 5 cases (3 urodynamically proven) of dysfunctional elimination syndrome in three generations. On the basis of the findings in this family, we revisit the hypothesis that the etiopathogenesis of dysfunctional elimination syndrome might be hereditary. We believe our observations might support the concept of the hereditary transmission of dysfunctional elimination syndrome.

New Diagnostic Terminology for Minimal Brain Dysfunction.

ERIC Educational Resources Information Center

Shaywitz, Bennett A.; And Others

1979-01-01

Minimal brain dysfunction has been redefined by the American Psychological Association as attention deficit disorder (ADD) and subdivided into categories with and without hyperactivity. The revised 'Diagnostic and Statistical Manual' (DSM III) is now undergoing field trials. Journal Availability: C. V. Mosby Company, 11830 Westline Industrial…

The Churchill School: An Alternative to Drug Treatment for Hyperactive Children.

ERIC Educational Resources Information Center

Krippner, Stanley

This paper is a discussion of The Churchill School, founded in 1972 as an alternative approach to serving the educational needs of children diagnosed as hyperactive, hyperkinetic, brain damaged, neurologically impaired, or suffering from minimal brain dysfunction. The school has a student body of 65, ranging between 6 and 13 years of age. The…

The Challenges of Being a Sensory Dysfunctional Child in a Military Family

DTIC Science & Technology

2011-05-02

Attention - Deficit / Hyperactivity Disorder ( ADHD ). 19 Sometimes the two overlap or 7 .· they can be two distinct conditions...the All-Volunteer Force. 22 Glossary ADD- Attention - Deficit Disorder ADHD - Attention - Deficit / Hyperactivity Disorder CPNP-Certified Pediatric Nurse...parent on wartime deployment. The number one diagnosis (30.1 %) was for attention - deficit disorder (ADD). Adjustment

Infrequent, but Not Frequent, Reinforcers Produce More Variable Responding and Deficient Sustained Attention in Young Children with Attention-Deficit/Hyperactivity Disorder (ADHD)

ERIC Educational Resources Information Center

Aase, Heidi; Sagvolden, Terje

2006-01-01

Background: The underlying behavioral/psychological processes of attention-deficit/hyperactivity disorder are unclear. Motivational factors, related to dopamine dysfunction, may play an important role in the development of the behavioral symptoms. Particularly, infrequent, but not frequent, reinforcers have been suggested to be associated with…

Does Attention-Deficit-Hyperactivity Disorder Exacerbate Executive Dysfunction in Children with Neurofibromatosis Type 1?

ERIC Educational Resources Information Center

Payne, Jonathan M.; Arnold, Shelley S.; Pride, Natalie A.; North, Kathryn N.

2012-01-01

Aim: Although approximately 40% of children with neurofibromatosis type 1 (NF1) meet diagnostic criteria for attention-deficit-hyperactivity disorder (ADHD), the impact of ADHD on the executive functioning of children with NF1 is not understood. We investigated whether spatial working memory and response inhibition are impaired in children with…

A Brazilian cohort of patients with Tourette's syndrome.

PubMed Central

Cardoso, F; Veado, C C; de Oliveira, J T

1996-01-01

The clinical features of 32 patients (24 males) with Tourette's syndrome in Brazil were studied. The mean age at onset was 7.1 years, tics being the first symptom in 71% and hyperactivity in 29%. Blinking, grimacing, and shoulder elevation were the most common motor tics and sniffing, throat clearing, and grunting noises, the most frequent vocal tics. Coprolalia was present in 28%, echolalia in 16%, palilalia in 9%, and copropraxia in 25% of patients. Attention deficit and hyperactivity disorder was diagnosed in 63%, and obsessive compulsive behaviour in 44% of patients. In 84% of patients there was a family history of tics whereas attention deficit and hyperactivity disorder and obsessive compulsive behaviour were respectively present in relatives of 19% and 53% of the patients studied. These data suggest that Tourette's syndrome in Brazil is not clinically different from other countries, supporting the notion that genetic factors play the most important part in its aetiology. PMID:8708658

Minimal Brain Dysfunction: Associations with Perinatal Complications.

ERIC Educational Resources Information Center

Nichols, Paul L.

Examined with over 28,000 7-year-old children whose mothers registered for prenatal care was the relationship between perinatal complications and such characteristics as poor school achievement, hyperactivity, and neurological soft signs associated with the diagnosis of minimal brain dysfunction (MBD). Ten perinatal antecedents were studied:…

Hyperactivity and lack of social discrimination in the adolescent Fmr1 knockout mouse.

PubMed

Sørensen, Emilie M; Bertelsen, Freja; Weikop, Pia; Skovborg, Maria M; Banke, Tue; Drasbek, Kim R; Scheel-Krüger, Jørgen

2015-12-01

The aims of this study were to investigate behaviour relevant to human autism spectrum disorder (ASD) and the fragile X syndrome in adolescent Fmr1 knockout (KO) mice and to evaluate the tissue levels of striatal monoamines. Fmr1 KO mice were evaluated in the open field, marble burying and three-chamber test for the presence of hyperactivity, anxiety, repetitive behaviour, sociability and observation of social novelty compared with wild-type (WT) mice. The Fmr1 KO mice expressed anxiety and hyperactivity in the open field compared with WT mice. This increased level of hyperactivity was confirmed in the three-chamber test. Fmr1 KO mice spent more time with stranger mice compared with the WT. However, after a correction for hyperactivity, their apparent increase in sociability became identical to that of the WT. Furthermore, the Fmr1 KO mice could not differentiate between a familiar or a novel mouse. Monoamines were measured by HPLC: Fmr1 KO mice showed an increase in the striatal dopamine level. We conclude that the fragile X syndrome model seems to be useful for understanding certain aspects of ASD and may have translational interest for studies of social behaviour when hyperactivity coexists in ASD patients.

Facts about Tourette Syndrome

MedlinePlus

... type="submit" value="Submit" /> Information For… Media Policy Makers ... about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ...

Mathematical performance and behavior of children with hyperactivity with and without coexisting aggression.

PubMed

Zentall, S S; Smith, Y N

1993-09-01

An analysis was made of a basic skill deficit and collateral behavior that could differentiate youth with hyperactivity from children with both hyperactivity and aggression. A total of 92 boys (with hyperactivity, with hyperactivity and aggression, and without disorders) were assessed for their timed performance and accuracy of computer-generated math operations. Response time differences documented between disordered and nondisordered groups, and between the diagnostic groups, were not explained by the group differences that were also observed in behavior or motor response speed (typing). Conclusions derived from these findings, and from prior work, indicated that speed of addition may be a marker of academic and social dysfunction. The overall importance of this assessment is related to the potential sensitivity of math fluency data for assessment and treatment monitoring.

Potential Role of Protein Disulfide Isomerase in Metabolic Syndrome-Derived Platelet Hyperactivity

PubMed Central

Gaspar, Renato Simões

2016-01-01

Metabolic Syndrome (MetS) has become a worldwide epidemic, alongside with a high socioeconomic cost, and its diagnostic criteria must include at least three out of the five features: visceral obesity, hypertension, dyslipidemia, insulin resistance, and high fasting glucose levels. MetS shows an increased oxidative stress associated with platelet hyperactivation, an essential component for thrombus formation and ischemic events in MetS patients. Platelet aggregation is governed by the peroxide tone and the activity of Protein Disulfide Isomerase (PDI) at the cell membrane. PDI redox active sites present active cysteine residues that can be susceptible to changes in plasma oxidative state, as observed in MetS. However, there is a lack of knowledge about the relationship between PDI and platelet hyperactivation under MetS and its metabolic features, in spite of PDI being a mediator of important pathways implicated in MetS-induced platelet hyperactivation, such as insulin resistance and nitric oxide dysfunction. Thus, the aim of this review is to analyze data available in the literature as an attempt to support a possible role for PDI in MetS-induced platelet hyperactivation. PMID:28053690

Potential Role of Protein Disulfide Isomerase in Metabolic Syndrome-Derived Platelet Hyperactivity.

PubMed

Gaspar, Renato Simões; Trostchansky, Andrés; Paes, Antonio Marcus de Andrade

2016-01-01

Metabolic Syndrome (MetS) has become a worldwide epidemic, alongside with a high socioeconomic cost, and its diagnostic criteria must include at least three out of the five features: visceral obesity, hypertension, dyslipidemia, insulin resistance, and high fasting glucose levels. MetS shows an increased oxidative stress associated with platelet hyperactivation, an essential component for thrombus formation and ischemic events in MetS patients. Platelet aggregation is governed by the peroxide tone and the activity of Protein Disulfide Isomerase (PDI) at the cell membrane. PDI redox active sites present active cysteine residues that can be susceptible to changes in plasma oxidative state, as observed in MetS. However, there is a lack of knowledge about the relationship between PDI and platelet hyperactivation under MetS and its metabolic features, in spite of PDI being a mediator of important pathways implicated in MetS-induced platelet hyperactivation, such as insulin resistance and nitric oxide dysfunction. Thus, the aim of this review is to analyze data available in the literature as an attempt to support a possible role for PDI in MetS-induced platelet hyperactivation.

The implications of different developmental patterns of disruptive behavior problems for school adjustment

PubMed Central

STORMSHAK, ELIZABETH A.; BIERMAN, KAREN L.

2009-01-01

Based upon developmental models of disruptive behavior problems, this study examined the hypothesis that the nature of a child’s externalizing problems at home may be important in predicting the probability of and nature of school adjustment problems at school entry. Parent ratings were collected for a sample of 631 behaviorally disruptive children using the Child Behavior Checklist. Confirmatory factor analyses revealed differentiated ratings of oppositional, aggressive, and hyperactive/inattentive behaviors at home. Teacher and peer nominations assessed school adjustment at the end of first grade. As expected from a developmental perspective, aggressive behaviors indicated more severe dysfunction and were more likely to generalize to the school setting than were oppositional behaviors. Hyperactive/inattentive behaviors at home led to more classroom disruption than did aggressive or oppositional behaviors. Co-occurring patterns of oppositional/aggressive and hyperactive/inattentive behaviors were more common than were single-problem patterns, and were associated with broad dysfunction in the social and classroom contexts. The results were interpreted within a developmental framework, in which oppositional, aggressive, and hyperactive/inattentive behaviors may reflect distinct (as well as shared) developmental processes that have implications for the home-to-school generalization of behavior problems and subsequent school adjustment. PMID:9741677

Do executive deficits and delay aversion make independent contributions to preschool attention-deficit/hyperactivity disorder symptoms?

PubMed

Sonuga-Barke, Edmund J S; Dalen, Lindy; Remington, Bob

2003-11-01

To test whether deficits in executive function and delay aversion make independent contributions to levels of attention-deficit/hyperactivity disorder (ADHD) symptoms exhibited by preschool children. One hundred fifty-six children between 3 and 5.5 years old (78 girls and 78 boys) selected from the community completed an age-appropriate battery of tests measuring working memory, set shifting, planning, delay of gratification, and preference for delayed rewards. Parents completed a clinical interview about their children's ADHD symptoms. Analysis of test performance revealed two factors: executive dysfunction and delay aversion. Multivariate analysis demonstrated that when other factors (i.e., age, IQ, and conduct problems) were controlled, executive dysfunction and delay aversion each made significant independent contributions to predictions of ADHD symptoms. Preschool ADHD symptoms are psychologically heterogeneous. Executive dysfunction and delay aversion may represent two distinct and early appearing neurodevelopmental bases for ADHD symptoms.

[Discipline styles and co-morbid disorders of adolescents with attention deficit hyperactivity disorder: a longitudinal study].

PubMed

Colomer-Diago, Carla; Berenguer-Forner, Carmen; Tárraga-Mínguez, Raúl; Miranda-Casas, Ana

2014-02-24

Problems in cognitive functioning, social and educational development of children with attention deficit hyperactivity disorder (ADHD) continue to be present in adolescence and adulthood. Although the literature shows a significant relationship between the use of dysfunctional discipline methods and severity in the course of ADHD, follow-up studies have been rare. To analyze parenting style and ADHD symptomatology assessed in childhood (time 1) to predict the oppositional behavior and cognitive problems in early adolescence (time 2), and to study, depending on the use of dysfunctional parenting style, the course of oppositional behavior and cognitive problems. Forty-five children with ADHD-combined presentation were assessed in two different moments: time 1 (ages: 6-13) and time 2 (ages: 8-16). Oppositionism and cognitive problems in the follow-up were predicted by dysfunctional discipline styles and ADHD severity (assessed in time 1). Oppositional behavior increased between time 1 and time 2 in children with a dysfunctional parenting, whereas a decrease on oppositional symptoms was observed in the functional parenting group (time x discipline interaction effect). Dysfunctional parenting practices in childhood predicted cognitive and behavioral problems associated in adolescence. The findings have implications for the planning of interventions.

Impulsive aggression and response inhibition in attention-deficit/hyperactivity disorder and disruptive behavioral disorders: Findings from a systematic review.

PubMed

Puiu, Andrei A; Wudarczyk, Olga; Goerlich, Katharina S; Votinov, Mikhail; Herpertz-Dahlmann, Beate; Turetsky, Bruce; Konrad, Kerstin

2018-04-22

Although impulsive aggression (IA) and dysfunctional response inhibition (RI) are hallmarks of attention-deficit/hyperactivity disorder (ADHD) and disrupted behavioral disorders (DBDs), little is known about their shared and distinct deviant neural mechanisms. Here, we selectively reviewed s/fMRI ADHD and DBD studies to identify disorder-specific and shared IA and RI aberrant neural mechanisms. In ADHD, deviant prefrontal and cingulate functional activity was associated with increased IA. Structural alterations were most pronounced in the cingulate cortex. Subjects with DBDs showed marked cortico-subcortical dysfunctions. ADHD and DBDs share similar cortico-limbic structural and functional alterations. RI deficits in ADHD highlighted hypoactivity in the dorso/ventro-lateral PFC, insula, and striatum, while the paralimbic system was primarily dysfunctional in DBDs. Across disorders, extensively altered cortico-limbic dysfunctions underlie IA, while RI was mostly associated with aberrant prefrontal activity. Control network deficits were evidenced across clinical phenotypes in IA and RI. Dysfunctions at any level within these cortico-subcortical projections lead to deficient cognitive-affective control by ascribing emotional salience to otherwise irrelevant stimuli. The clinical implications of these findings are discussed. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Corticotropic axis and chronic stress in abdominal obesity and metabolic syndrome].

PubMed

Boullu-Ciocca, S; Verger, P; Bocquier, A; Oliver, C

2005-12-03

Several indicators of corticotropic axis hyperactivity have been observed in common abdominal obesity, which is clinically similar to the obesity found in Cushing's syndrome. Corticotropic axis hyperactivity may be involved in the development and metabolic and cardiovascular complications of abdominal obesity. Several mechanisms may be responsible for this hormonal dysregulation: genetic, lifestyle, and nutritional factors, and chronic stress. We note the necessity of methodologically-impeccable clinical studies for an objective evaluation of the role of stress in obesity.

An Educator's Guide to Tourette Syndrome.

ERIC Educational Resources Information Center

Bronheim, Suzanne

1991-01-01

Tourette Syndrome is described in terms of causes, treatment, associated disorders (attention deficit hyperactivity disorder, obsessive-compulsive behaviors, learning disabilities), and classroom management (dealing with tics, writing problems, language problems, and attention problems). Common teacher questions concerning Tourette Syndrome are…

Specific Etiologies Associated With the Multiple Organ Dysfunction Syndrome in Children: Part 2.

PubMed

Upperman, Jeffrey S; Bucuvalas, John C; Williams, Felicia N; Cairns, Bruce A; Cox, Charles S; Doctor, Allan; Tamburro, Robert F

2017-03-01

To describe a number of conditions and therapies associated with multiple organ dysfunction syndrome presented as part of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Multiple Organ Dysfunction Workshop (March 26-27, 2015). In addition, the relationship between burn injuries and multiple organ dysfunction syndrome is also included although it was not discussed at the workshop. Literature review, research data, and expert opinion. Not applicable. Moderated by an expert from the field, issues relevant to the association of multiple organ dysfunction syndrome with a variety of conditions and therapies were presented, discussed, and debated with a focus on identifying knowledge gaps and the research priorities. Summary of presentations and discussion supported and supplemented by relevant literature. Sepsis and trauma are the two conditions most commonly associated with multiple organ dysfunction syndrome both in children and adults. However, many other pathophysiologic processes may result in multiple organ dysfunction syndrome. In this article, we discuss conditions such as liver failure and pancreatitis, pathophysiologic processes such as ischemia and hypoxia, and injuries such as trauma and burns. Additionally, therapeutic interventions such as medications, blood transfusions, transplantation may also precipitate and contribute to multiple organ dysfunction syndrome. The purpose of this article is to describe the association of multiple organ dysfunction syndrome with a variety of conditions and therapies in an attempt to identify similarities, differences, and opportunities for therapeutic intervention.

Cerebral fat embolism and the "starfield" pattern: a case report.

PubMed

Aravapalli, Amit; Fox, James; Lazaridis, Christos

2009-11-19

Nearly all long-bone fractures are accompanied by some form of fat embolism. The rare complication of clinically significant fat embolism syndrome, however, occurs in only 0.9-2.2% of cases. The clinical triad of fat embolism syndrome consists of respiratory distress, altered mental status, and petechial rash. Cerebral fat embolism causes the neurologic involvement seen in fat embolism syndrome. A 19-year-old African-American male was admitted with gunshot wounds to his right hand and right knee. He had diffuse hyperactive deep tendon reflexes, bilateral ankle clonus and decerebrate posturing with a Glasgow Coma Scale (GCS) score of 4T. Subsequent MRI of the brain showed innumerable punctate areas of restricted diffusion consistent with "starfield" pattern. On a 10-week follow up he has a normal neurological examination and he is discharged home. Despite the severity of the neurologic insult upon initial presentation, the majority of case reports on cerebral fat embolism illustrate that cerebral dysfunction associated with cerebral fat embolism is reversible. When neurologic deterioration occurs in the non-head trauma patient, then a systemic cause such as fat emboli should be considered. We describe a patient with non-head trauma who demonstrated the classic "starfield" pattern on diffusion-weighted MRI imaging.

The Use of Ritalin for Treatment of Minimal Brain Dysfunction and Hyperkinesis in Children.

ERIC Educational Resources Information Center

Bosco, James

The use of Ritalin in public schools as a means of treating hyperactive children is a much debated issue. Research done on the drug is spotty, and conclusions about the effects of its use are few. A review of current research, however, indicates no consistent beneficial results when Ritalin is used to treat hyperactive children. This may not be…

Bibliography on the Hyperkinetic Behavior Syndrome.

ERIC Educational Resources Information Center

Kirson, Tamara; And Others

The bibliography on the hyperkinetic behavior syndrome focuses on the behavior characteristics of and treatment for hyperactivity. Entries are divided into the following sections (sample subsections are in parentheses): general review of pediatric psychopharmacology; the hyperkinetic behavior syndrome (overview, diagnosis and evaluation,…

Review of the pathophysiological aspects involved in urological disease associated with metabolic syndrome.

PubMed

Sáenz Medina, J; Carballido Rodríguez, J

2016-06-01

Metabolic syndrome is a constellation of disorders that includes insulin resistance, central obesity, arterial hypertension and hyperlipidaemia. These disorders can have implications for the genitourinary apparatus. To conduct a review on the pathophysiological aspects that explain the relationship between metabolic syndrome and sexual dysfunction, lower urinary tract syndrome, prostate cancer and stone disease. We performed a qualitative, narrative literature review through a literature search on PubMed of articles published between 1997 and 2015, using the terms pathophysiology, metabolic syndrome, endothelial dysfunction, lipotoxicity, mitochondrial dysfunction, kidney stones, hypogonadism, erectile dysfunction, lower urinary tract syndrome and prostate cancer. Metabolic syndrome constitutes an established complex of symptoms, defined as the presence of insulin resistance, central obesity, hypertension and hyperlipidaemia. Endothelial dysfunction secondary to lipotoxicity generates an inflammatory state, which involves renal cell metabolism, vascularisation of the pelvis and androgen production. These facts explain the relationship between metabolic syndrome, nephrolithiasis, lower urinary tract syndrome, hypogonadism and erectile dysfunction in men. Strategies such as proper diet, regular exercise, insulin treatment, testosterone-replacement therapy, therapy with antioxidants and free-radical inhibitors and urological treatments classically used for lower urinary tract syndrome have shown promising results in this syndrome. Copyright © 2015 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

Cardio-renal syndromes: a systematic approach for consensus definition and classification.

PubMed

Ronco, Claudio; Ronco, Federico

2012-03-01

The "Cardio-Renal Syndrome" (CRS) is a disorder of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The general definition has been expanded to five subtypes reflecting the primacy of organ dysfunction and the time-frame of the syndrome: CRS type I: acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. CRS type II: chronic abnormalities in heart function (CHF-CHD) leading to kidney injury or dysfunction. CRS type III: acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. CRS type IV: chronic kidney disease (CKD) leading to heart injury, disease and/or dysfunction. CRS type V: systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. Different pathophysiological mechanisms are involved in the combined dysfunction of heart and kidney in these five types of the syndrome.

Chasing Tics in the Human Brain: Development of Open, Scheduled and Closed Loop Responsive Approaches to Deep Brain Stimulation for Tourette Syndrome

PubMed Central

Martinez-Ramirez, Daniel; Rossi, Peter J.; Peng, Zhongxing; Gunduz, Aysegul; Okun, Michael S.

2015-01-01

Tourette syndrome is a childhood-onset disorder characterized by a combination of motor and vocal tics, often associated with psychiatric comorbidities including attention deficit and hyperactivity disorder and obsessive-compulsive disorder. Despite an onset early in life, half of patients may present symptoms in adulthood, with variable degrees of severity. In select cases, the syndrome may lead to significant physical and social impairment, and a worrisome risk for self injury. Evolving research has provided evidence supporting the idea that the pathophysiology of Tourette syndrome is directly related to a disrupted circuit involving the cortex and subcortical structures, including the basal ganglia, nucleus accumbens, and the amygdala. There has also been a notion that a dysfunctional group of neurons in the putamen contributes to an abnormal facilitation of competing motor responses in basal ganglia structures ultimately underpinning the generation of tics. Surgical therapies for Tourette syndrome have been reserved for a small group of patients not responding to behavioral and pharmacological therapies, and these therapies have been directed at modulating the underlying pathophysiology. Lesion therapy as well as deep brain stimulation has been observed to suppress tics in at least some of these cases. In this article, we will review the clinical aspects of Tourette syndrome, as well as the evolution of surgical approaches and we will discuss the evidence and clinical responses to deep brain stimulation in various brain targets. We will also discuss ongoing research and future directions as well as approaches for open, scheduled and closed loop feedback-driven electrical stimulation for the treatment of Tourette syndrome. PMID:25851890

Diagnostic yield of lumbosacral magnetic resonance imaging requested by paediatric urology consultations.

PubMed

Fernández-Ibieta, M; Rojas Ticona, J; Villamil, V; Guirao Piñera, M J; López García, A; Zambudio Carmona, G

2017-11-01

In the historical series, the diagnostic yield of lumbosacral magnetic resonance imaging to rule out occult spinal dysraphism (or occult myelodysplasia), requested by paediatric urology, ranged from 2% to 15%. The aim of this study was to define our cost-effectiveness in children with urinary symptoms and to define endpoints that increase the possibility of finding occult spinal dysraphism. A screening was conducted on patients with urinary dysfunction for whom an magnetic resonance imaging was requested by the paediatric urology clinic, for persistent symptoms after treatment, voiding dysfunction or other clinical or urodynamic findings. We analysed clinical (UTI, daytime leaks, enuresis, voiding dysfunction, urgency, renal ultrasonography, lumbosacral radiography, history of acute urine retention, skin stigma and myalgia) and urodynamic endpoints (hyperactivity or areflexia, voiding dysfunction, interrupted pattern, accommodation value and maximum flow). A univariate analysis was conducted with SPSS 20.0. We analysed 21 patients during the period 2011-2015. The median age was 6 years (3-10). Three patients (14.3%) had occult spinal dysraphism: one spinal lipoma, one filum lipomatosus and one caudal regression syndrome with channel stenosis. The endpoints with statistically significant differences were the myalgias and the history of acute urine retention (66.7% vs. 5.6%, P=.04; OR= 34; 95%CI: 1.5-781 for both endpoints). The diagnostic yield of magnetic resonance imaging requested for children with urinary dysfunctions without skin stigma or neuro-orthopaedic abnormalities is low, although nonnegligible. In this group, the patients with a history of acute urine retention and muscle pain (pain, «cramps») can experience a greater diagnostic yield or positive predictive value. Copyright © 2017 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

Vestibular dysfunction in Turner syndrome: a case report.

PubMed

Baxter, Michael; Agrawal, Yuri

2014-02-01

Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

Asperger Syndrome: Associated Psychiatric and Medical Conditions.

ERIC Educational Resources Information Center

Ghaziuddin, Mohammad

2002-01-01

This article explores the association of medical and psychiatric conditions with Asperger syndrome, based mainly on publications from the last two decades. It examines comorbidity of Asperger syndrome with mood disorders, schizophrenia, obsessive-compulsive disorder, attention deficit/hyperactivity disorder, tic disorders, violence and aggression,…

Roy Porter Student Essay Prize WinnerPsychiatry Limited: Hyperactivity and the Evolution of American Psychiatry, 1957–1980

PubMed Central

Smith, Matthew

2008-01-01

Summary Hyperactivity is the most commonly diagnosed childhood psychiatric disorder in north America. Most physicians believe that the disorder is a neurological dysfunction which is best treated with stimulants, such as ritalin. Accounts of the history of hyperactivity written by physicians, psychologists and even historians suggest that the disorder was always conceived as such. This paper argues that, on the contrary, the notion that hyperactivity was a neurological condition only emerged after vigorous debate during the 1960s between three competing fields within American psychiatry: specifically psychoanalysis, social psychiatry and biological psychiatry. Biological psychiatry won the debate, not because its approach to hyperactivity was more scientifically valid, but rather because its explanations and methods fit the prevailing social context more readily than that of its rivals. American psychiatry's refusal to draw pluralistic conclusions about hyperactivity undermined the development of a deeper understanding of the disorder. The history of hyperactivity provides an ideal lens through which to view the evolution of psychiatry from a field dominated by Freudian psychoanalysis to one rooted in the neurosciences.

Comparison of ADHD Symptom Subtypes as Source-Specific Syndromes

ERIC Educational Resources Information Center

Gadow, Kenneth D.; Drabick, Deborah A. G.; Loney, Jan; Sprafkin, Joyce; Salisbury, Helen; Azizian, Allen; Schwartz, Joseph

2004-01-01

Background: This study examines differences between the three subtypes of attention-deficit/hyperactivity disorder (ADHD), inattentive (I), hyperactive-impulsive (H), and combined (C), in a heterogeneous sample of 248 boys (ages 6 to 10 years) with emotional and behavioral problems who were recruited for participation in a diagnostic study.…

Behavioral and Emotional Disturbance in Individuals with Williams Syndrome.

ERIC Educational Resources Information Center

Einfeld, Stewart L.; Tonge, Bruce J.; Florio, Tony

1997-01-01

Comparison of behavioral and emotional disturbance in 70 children and adolescents with Williams Syndrome (characterized by mental retardation and short stature) and a control group, found Williams Syndrome subjects were more likely to be diagnosed with a psychiatric disorder characterized by anxiety, hyperactivity, preoccupations, and…

The Relationship between Age of Diagnosis and the Occurrence of Dysfunctional Career Thoughts among College Students with ADHD

ERIC Educational Resources Information Center

Caolo, Jessica L.

2014-01-01

The purpose of this study was to examine the relationship between the chronological age of one's diagnosis and dysfunctional career thoughts among college students with Attention Deficit Hyperactivity Disorder (ADHD). What is currently known about the timing of ADHD diagnosis and how it could potentially impact or have an effect on one's career…

Accommodating Asperger's: An Autoethnography on the Learning Experience in an E-Learning Music Education Program

ERIC Educational Resources Information Center

Farrell, Riley Jarrett

2013-01-01

A student with Asperger's Syndrome faces a complex myriad of learning disabilities and social difficulties. The co-morbid conditions of dyslexia, Obsessive Compulsive Disorder, Attention Deficit Disorder, Attention Deficit Hyperactive Disorder and anxiety further complicate Asperger's Syndrome. Asperger's Syndrome and these conditions, singularly…

Multispectral Brain Morphometry in Tourette Syndrome Persisting into Adulthood

ERIC Educational Resources Information Center

Draganski, Bogdan; Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

2010-01-01

Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into…

Comparing ADHD in Velocardiofacial Syndrome to Idiopathic ADHD: A Preliminary Study

ERIC Educational Resources Information Center

Antshel, Kevin M.; Faraone, Stephen V.; Fremont, Wanda; Monuteaux, Michael C.; Kates, Wendy R.; Doyle, Alysa; Mick, Eric; Biederman, Joseph

2007-01-01

Objective: Background: Children with velocardiofacial syndrome (VCFS), a contiguous deletion syndrome, have an increased prevalence of attention deficit/hyperactivity disorder (ADHD). Method: The authors compared youth with VCFS+ADHD (from the SUNY Upstate VCFS Research Program) to those with ADHD but not VCFS (from the Massachusetts General…

The role of hippocampus dysfunction in deficient memory encoding and positive symptoms in schizophrenia.

PubMed

Zierhut, Kathrin; Bogerts, Bernhard; Schott, Björn; Fenker, Daniela; Walter, Martin; Albrecht, Dominik; Steiner, Johann; Schütze, Hartmut; Northoff, Georg; Düzel, Emrah; Schiltz, Kolja

2010-09-30

Declarative memory disturbances, known to substantially contribute to cognitive impairment in schizophrenia, have previously been attributed to prefrontal as well as hippocampal dysfunction. To characterize the role of prefrontal and mesolimbic/hippocampal dysfunction during memory encoding in schizophrenia. Neuronal activation in schizophrenia patients and controls was assessed using functional magnetic resonance imaging (fMRI) during encoding of words in a deep (semantic judgement) and shallow (case judgment) task. A free recall (no delay) and a recognition task (24h delay) were performed. Free recall, but not recognition performance was reduced in patients. Reduced performance was correlated with positive symptoms which in turn were related to increased left hippocampal activity during successful encoding. Furthermore, schizophrenia patients displayed a hippocampal hyperactivity during deep encoding irrespective of encoding success along with a reduced anterior cingulate cortex (ACC) and dorsomedial prefrontal cortex (DMPFC) activity in successful encoding but an intact left inferior frontal cortex (LIFC) activity. This study provides the first evidence directly linking positive symptoms and memory deficits to dysfunctional hippocampal hyperactivity. It thereby underscores the pivotal pathophysiological role of a hyperdopaminergic mesolimbic state in schizophrenia. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

PubMed Central

Meechan, Daniel W.; Maynard, Thomas M.; Fernandez, Alejandra; Karpinski, Beverly A.; Rothblat, Lawrence A.; LaMantia, Anthony S.

2015-01-01

Understanding the developmental etiology of autistic spectrum disorders, attention deficit/hyperactivity disorder and schizophrenia remains a major challenge for establishing new diagnostic and therapeutic approaches to these common, difficult-to-treat diseases that compromise neural circuits in the cerebral cortex. One aspect of this challenge is the breadth and overlap of ASD, ADHD, and SCZ deficits; another is the complexity of mutations associated with each, and a third is the difficulty of analyzing disrupted development in at-risk or affected human fetuses. The identification of distinct genetic syndromes that include behavioral deficits similar to those in ASD, ADHC and SCZ provides a critical starting point for meeting this challenge. We summarize clinical and behavioral impairments in children and adults with one such genetic syndrome, the 22q11.2 Deletion Syndrome, routinely called 22q11DS, caused by micro-deletions of between 1.5 and 3.0 MB on human chromosome 22. Among many syndromic features, including cardiovascular and craniofacial anomalies, 22q11DS patients have a high incidence of brain structural, functional, and behavioral deficits that reflect cerebral cortical dysfunction and fall within the spectrum that defines ASD, ADHD, and SCZ. We show that developmental pathogenesis underlying this apparent genetic “model” syndrome in patients can be defined and analyzed mechanistically using genomically accurate mouse models of the deletion that causes 22q11DS. We conclude that “modeling a model”, in this case 22q11DS as a model for idiopathic ASD, ADHD and SCZ, as well as other behavioral disorders like anxiety frequently seen in 22q11DS patients, in genetically engineered mice provides a foundation for understanding the causes and improving diagnosis and therapy for these disorders of cortical circuit development. PMID:25866365

Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us

PubMed Central

Santos, Ana Rita; Kanellopoulos, Alexandros K.

2014-01-01

The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the FMR1 gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain and nonneuronal cells. During brain development, FMRP controls the expression of key molecules involved in receptor signaling, cytoskeleton remodeling, protein synthesis and, ultimately, spine morphology. Symptoms associated with FXS include neurodevelopmental delay, cognitive impairment, anxiety, hyperactivity, and autistic-like behavior. Twenty years ago the first Fmr1 KO mouse to study FXS was generated, and several years later other key models including the mutant Drosophila melanogaster, dFmr1, have further helped the understanding of the cellular and molecular causes behind this complex syndrome. Here, we review to which extent these biological models are affected by the absence of FMRP, pointing out the similarities with the observed human dysfunction. Additionally, we discuss several potential treatments under study in animal models that are able to partially revert some of the FXS abnormalities. PMID:25227249

Glutamatergic synapses in neurodevelopmental disorders.

PubMed

Moretto, Edoardo; Murru, Luca; Martano, Giuseppe; Sassone, Jenny; Passafaro, Maria

2018-06-08

Neurodevelopmental disorders (NDDs) are a group of diseases whose symptoms arise during childhood or adolescence and that impact several higher cognitive functions such as learning, sociability and mood. Accruing evidence suggests that a shared pathogenic mechanism underlying these diseases is the dysfunction of glutamatergic synapses. We summarize present knowledge on autism spectrum disorders (ASD), intellectual disability (ID), Down syndrome (DS), Rett syndrome (RS) and attention-deficit hyperactivity disorder (ADHD), highlighting the involvement of glutamatergic synapses and receptors in these disorders. The most commonly shared defects involve α-amino-3-hydroxy-5-methyl- 4-isoxazole propionic acid receptors (AMPARs), N-methyl-d-aspartate receptors (NMDARs) and metabotropic glutamate receptors (mGluRs), whose functions are strongly linked to synaptic plasticity, affecting both cell-autonomous features as well as circuit formation. Moreover, the major scaffolding proteins and, thus, the general structure of the synapse are often deregulated in neurodevelopmental disorders, which is not surprising considering their crucial role in the regulation of glutamate receptor positioning and functioning. This convergence of defects supports the definition of neurodevelopmental disorders as a continuum of pathological manifestations, suggesting that glutamatergic synapses could be a therapeutic target to ameliorate patient symptomatology. Copyright © 2017. Published by Elsevier Inc.

Left Ventricular Dysfunction and Dilated Cardiomyopathy in Infants and Children with Wolff-Parkinson-White Syndrome in the Absence of Tachyarrhythmias

PubMed Central

2012-01-01

Left ventricular (LV) dysfunction and dilated cardiomyopathy (DCM) are rarely attributable to sustained or incessant tachyarrhythmias in infants and children with Wolff-Parkinson-White (WPW) syndrome. However, several recent reports suggested that significant LV dysfunction may develop in WPW syndrome in the absence of tachyarrhythmias. It is assumed that an asynchronous ventricular activation over the accessory pathway, especially right-sided, induces septal wall motion abnormalities, ventricular remodeling and ventricular dysfunction. The prognosis of DCM associated with asymptomatic WPW is excellent. Loss of ventricular pre-excitation results in mechanical resynchronization and reverse remodeling where LV function recovers completely. The reversible nature of LV dysfunction after loss of ventricular pre-excitation supports the causal relationship between LV dysfunction and ventricular pre-excitation. This review summarizes recent clinical and electrophysiological evidence for development of LV dysfunction or DCM in asymptomatic WPW syndrome, and discusses the underlying pathophysiological mechanism. PMID:23323117

Examining the association between posttraumatic stress disorder and attention-deficit/hyperactivity disorder: a systematic review and meta-analysis.

PubMed

Spencer, Andrea E; Faraone, Stephen V; Bogucki, Olivia E; Pope, Amanda L; Uchida, Mai; Milad, Mohammed R; Spencer, Thomas J; Woodworth, K Yvonne; Biederman, Joseph

2016-01-01

To conduct a systematic review and meta-analysis examining the relationship between attention-deficit/hyperactivity disorder (ADHD) and posttraumatic stress disorder (PTSD). We reviewed literature through PubMed and PsycINFO without a specified date range, utilizing the search (posttraumatic stress disorder OR PTSD) AND (ADHD OR attention deficit hyperactivity disorder OR ADD OR attention deficit disorder OR hyperkinetic syndrome OR minimal brain dysfunction). References from relevant articles were reviewed. We identified 402 articles; 28 met criteria. We included original human research in English that operationalized diagnoses of ADHD and PTSD, evaluated the relationship between the disorders, and included controls. We excluded articles that failed to differentiate ADHD or PTSD from nonspecific or subsyndromal deficits or failed to compare their relationship. We extracted sample size, age, diagnostic methods, design, referral status, control type, and number of subjects with and without ADHD and PTSD alone and combined. We computed meta-analyses for 22 studies examining ADHD in PTSD and PTSD in ADHD using a random effects model and meta-analytic regression. We assessed for heterogeneity and publication bias and adjusted for intrastudy clustering. The relative risk (RR) for PTSD in ADHD was 2.9 (P < .0005); in samples using healthy controls, the RR was 3.7 (P = .001); and in samples using traumatized controls, the RR was 1.6 (P = .003). The RR for ADHD in PTSD was 1.7 (P < .0005); in samples using traumatized controls, the RR was 2.1 (P < .0005). The association was not significant in samples using psychiatric controls. Results indicate a bidirectional association between ADHD and PTSD, suggesting clinical implications and highlighting the need for neurobiological research that examines the mechanisms underlying this connection. © Copyright 2015 Physicians Postgraduate Press, Inc.

Standardized Observational Assessment of Attention Deficit Hyperactivity Disorder Combined and Predominantly Inattentive Subtypes. II. Classroom Observations.

PubMed

McConaughy, Stephanie H; Ivanova, Masha Y; Antshel, Kevin; Eiraldi, Ricardo B; Dumenci, Levent

2009-07-01

Trained classroom observers used the Direct Observation Form (DOF; McConaughy & Achenbach, 2009) to rate observations of 163 6- to 11-year-old children in their school classrooms. Participants were assigned to four groups based on a parent diagnostic interview and parent and teacher rating scales: Attention Deficit Hyperactivity Disorder (ADHD)-Combined type (n = 64); ADHD-Inattentive type (n = 22); clinically referred without ADHD (n = 51); and nonreferred control children (n = 26). The ADHD-Combined group scored significantly higher than the referred without ADHD group and controls on the DOF Intrusive and Oppositional syndromes, Attention Deficit Hyperactivity Problems scale, Hyperactivity-Impulsivity subscale, and Total Problems; and significantly lower on the DOF On-Task score. The ADHD-Inattentive group scored significantly higher than controls on the DOF Sluggish Cognitive Tempo and Attention Problems syndromes, Inattention subscale, and Total Problems; and significantly lower on the DOF On-Task score. Implications are discussed regarding the discriminative validity of standardized classroom observations for identifying children with ADHD and differentiating between the two ADHD subtypes.

Standardized Observational Assessment of Attention Deficit Hyperactivity Disorder Combined and Predominantly Inattentive Subtypes. II. Classroom Observations

PubMed Central

McConaughy, Stephanie H.; Ivanova, Masha Y.; Antshel, Kevin; Eiraldi, Ricardo B.; Dumenci, Levent

2010-01-01

Trained classroom observers used the Direct Observation Form (DOF; McConaughy & Achenbach, 2009) to rate observations of 163 6- to 11-year-old children in their school classrooms. Participants were assigned to four groups based on a parent diagnostic interview and parent and teacher rating scales: Attention Deficit Hyperactivity Disorder (ADHD)—Combined type (n = 64); ADHD—Inattentive type (n = 22); clinically referred without ADHD (n = 51); and nonreferred control children (n = 26). The ADHD—Combined group scored significantly higher than the referred without ADHD group and controls on the DOF Intrusive and Oppositional syndromes, Attention Deficit Hyperactivity Problems scale, Hyperactivity-Impulsivity subscale, and Total Problems; and significantly lower on the DOF On-Task score. The ADHD—Inattentive group scored significantly higher than controls on the DOF Sluggish Cognitive Tempo and Attention Problems syndromes, Inattention subscale, and Total Problems; and significantly lower on the DOF On-Task score. Implications are discussed regarding the discriminative validity of standardized classroom observations for identifying children with ADHD and differentiating between the two ADHD subtypes. PMID:20802813

IDENTIFICATION AND MANAGEMENT OF ALCOHOL WITHDRAWAL SYNDROME

PubMed Central

Mirijello, Antonio; D’Angelo, Cristina; Ferrulli, Anna; Vassallo, Gabriele; Antonelli, Mariangela; Caputo, Fabio; Leggio, Lorenzo; Gasbarrini, Antonio; Addolorato, Giovanni

2016-01-01

Symptoms of alcohol withdrawal syndrome may develop within 6–24 hours after the abrupt discontinuation or decrease of alcohol consumption. Symptoms can vary from autonomic hyperactivity and agitation to delirium tremens. The gold-standard treatment for alcohol withdrawal syndrome is represented by benzodiazepines. Among them, different agents (i.e., long-acting or short-acting) and different regimens (front-loading, fixed dose or symptom-triggered) may be chosen on the basis of patient characteristics. Severe withdrawal could require ICU admission and the use of barbiturates or propofol. Other drugs, such as alpha2-agonists (clonidine and dexmetedomidine) and beta-blockers can be used as adjunctive treatments to control neuroautonomic hyperactivity. Furthermore, neuroleptics can help control hallucinations. Finally, other medications for the treatment for alcohol withdrawal syndrome have been investigated with promising results. These include carbamazepine, valproate, sodium oxybate, baclofen, gabapentin, and topiramate. The usefulness of these agents will be discussed in the text. PMID:25666543

Enhanced independence and quality of life through treatment with flotation-Restricted Environmental Stimulation Technique of a patient with both Attention Deficit Hyperactivity Disorder and Aspergers Syndrome: a case report

PubMed Central

Kjellgren, Anette; Bood, Sven-Åke; Norlander, Torsten

2009-01-01

Introduction The objective of this qualitative case report was to describe experiences of flotation-Restricted Environmental Stimulation Technique from the perspective of a woman with Attention Deficit Hyperactivity Disorder, Aspergers syndrome and experiences of depression and distress. Case presentation The respondent is a 36-year-old woman from Sweden, assessed and diagnosed by a neuropsychological multi-professional team in 2006. The 19-session flotation series prolonged during almost one year. Conclusion The positive development of arousal control, activity regulation, sensory integration and interpretation, cognitive functioning and emotional maturity created experiences of personal independence and quality of life. Flotation-restrictive environmental stimulation technique was experienced as a meaningful treatment. Additional studies of treatment for Attention Deficit Hyperactivity Disorder and comorbid disorders in adults using the flotation-restrictive environmental stimulation technique are strongly encouraged. PMID:19829887

Enhanced independence and quality of life through treatment with flotation-Restricted Environmental Stimulation Technique of a patient with both Attention Deficit Hyperactivity Disorder and Aspergers syndrome: a case report.

PubMed

Edebol, Hanna; Kjellgren, Anette; Bood, Sven-Ake; Norlander, Torsten

2009-07-07

The objective of this qualitative case report was to describe experiences of flotation-Restricted Environmental Stimulation Technique from the perspective of a woman with Attention Deficit Hyperactivity Disorder, Aspergers syndrome and experiences of depression and distress. The respondent is a 36-year-old woman from Sweden, assessed and diagnosed by a neuropsychological multi-professional team in 2006. The 19-session flotation series prolonged during almost one year. The positive development of arousal control, activity regulation, sensory integration and interpretation, cognitive functioning and emotional maturity created experiences of personal independence and quality of life. Flotation-restrictive environmental stimulation technique was experienced as a meaningful treatment. Additional studies of treatment for Attention Deficit Hyperactivity Disorder and comorbid disorders in adults using the flotation-restrictive environmental stimulation technique are strongly encouraged.

Cognitive computer training in children with attention deficit hyperactivity disorder (ADHD) versus no intervention: study protocol for a randomized controlled trial.

PubMed

Bikic, Aida; Leckman, James F; Lindschou, Jane; Christensen, Torben Ø; Dalsgaard, Søren

2015-10-24

Attention Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder characterized by symptoms of inattention and impulsivity and/or hyperactivity and a range of cognitive dysfunctions. Pharmacological treatment may be beneficial; however, many affected individuals continue to have difficulties with cognitive functions despite medical treatment, and up to 30 % do not respond to pharmacological treatment. Inadequate medical compliance and the long-term effects of treatment make it necessary to explore nonpharmacological and supplementary treatments for ADHD. Treatment of cognitive dysfunctions may prove particularly important because of the impact of these dysfunctions on the ability to cope with everyday life. Lately, several trials have shown promising results for cognitive computer training, often referred to as cognitive training, which focuses on particular parts of cognition, mostly on the working memory or attention but with poor generalization of training on other cognitive functions and functional outcome. Children with ADHD have a variety of cognitive dysfunctions, and it is important that cognitive training target multiple cognitive functions. This multicenter randomized clinical superiority trial aims to investigate the effect of "ACTIVATE™," a computer program designed to improve a range of cognitive skills and ADHD symptoms. A total of 122 children with ADHD, aged 6 to 13 years, will be randomized to an intervention or a control group. The intervention group will be asked to use ACTIVATE™ at home 40 minutes per day, 6 days per week for 8 weeks. Both intervention and control group will receive treatment as usual. Outcome measures will assess cognitive functions, symptoms, and behavioral and functional measures before and after the 8 weeks of training and in a 12- and 24-week follow-up. Results of this trial will provide useful information on the effectiveness of computer training focusing on several cognitive functions. Cognitive training has the potential to reduce cognitive dysfunctions and to become a new treatment option, which can promote a more normal neural development in young children with ADHD and thus reduce cognitive dysfunctions and symptoms. This could help children with ADHD to perform better in everyday life and school. ClinicalTrials.gov: NCT01752530 , date of registration: 10 December 2012.

Delineation of behavioral phenotypes in genetic syndromes: characteristics of autism spectrum disorder, affect and hyperactivity.

PubMed

Oliver, Chris; Berg, Katy; Moss, Jo; Arron, Kate; Burbidge, Cheryl

2011-08-01

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.

Is the ADHD brain wired differently? A review on structural and functional connectivity in attention deficit hyperactivity disorder.

PubMed

Konrad, Kerstin; Eickhoff, Simon B

2010-06-01

In recent years, a change in perspective in etiological models of attention deficit hyperactivity disorder (ADHD) has occurred in concordance with emerging concepts in other neuropsychiatric disorders such as schizophrenia and autism. These models shift the focus of the assumed pathology from regional brain abnormalities to dysfunction in distributed network organization. In the current contribution, we report findings from functional connectivity studies during resting and task states, as well as from studies on structural connectivity using diffusion tensor imaging, in subjects with ADHD. Although major methodological limitations in analyzing connectivity measures derived from noninvasive in vivo neuroimaging still exist, there is convergent evidence for white matter pathology and disrupted anatomical connectivity in ADHD. In addition, dysfunctional connectivity during rest and during cognitive tasks has been demonstrated. However, the causality between disturbed white matter architecture and cortical dysfunction remains to be evaluated. Both genetic and environmental factors might contribute to disruptions in interactions between different brain regions. Stimulant medication not only modulates regionally specific activation strength but also normalizes dysfunctional connectivity, pointing to a predominant network dysfunction in ADHD. By combining a longitudinal approach with a systems perspective in ADHD in the future, it might be possible to identify at which stage during development disruptions in neural networks emerge and to delineate possible new endophenotypes of ADHD. (c) 2010 Wiley-Liss, Inc.

Chronic Lung Allograft Dysfunction: A Systematic Review of Mechanisms.

PubMed

Royer, Pierre-Joseph; Olivera-Botello, Gustavo; Koutsokera, Angela; Aubert, John-David; Bernasconi, Eric; Tissot, Adrien; Pison, Christophe; Nicod, Laurent; Boissel, Jean-Pierre; Magnan, Antoine

2016-09-01

Chronic lung allograft dysfunction (CLAD) is the major limitation of long-term survival after lung transplantation. Chronic lung allograft dysfunction manifests as bronchiolitis obliterans syndrome or the recently described restrictive allograft syndrome. Although numerous risk factors have been identified so far, the physiopathological mechanisms of CLAD remain poorly understood. We investigate here the immune mechanisms involved in the development of CLAD after lung transplantation. We explore the innate or adaptive immune reactions induced by the allograft itself or by the environment and how they lead to allograft dysfunction. Because current literature suggests bronchiolitis obliterans syndrome and restrictive allograft syndrome as 2 distinct entities, we focus on the specific factors behind one or the other syndromes. Chronic lung allograft dysfunction is a multifactorial disease that remains irreversible and unpredictable so far. We thus finally discuss the potential of systems-biology approach to predict its occurrence and to better understand its underlying mechanisms.

Review of Pharmacotherapy Options for the Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) and ADHD-Like Symptoms in Children and Adolescents with Developmental Disorders

ERIC Educational Resources Information Center

Rowles, Brieana M.; Findling, Robert L.

2010-01-01

Developmental disorders such as subaverage intelligence, pervasive developmental disorders, and genetic syndromes are frequently associated with comorbid attention-deficit/hyperactivity disorder (ADHD) or ADHD-like symptoms. While there are not pharmacological cures for these developmental disorders, coinciding ADHD and ADHD-like symptoms that…

Foundation Phase Educators' Perceptions of Attention Deficit Hyperactivity Disorder at a Mainstream Primary School

ERIC Educational Resources Information Center

Seabi, J.

2010-01-01

Although Attention Deficit Hyperactivity Disorder (ADHD) is one of the most diagnosed conditions in children, it is also one of the misunderstood and misdiagnosed syndromes. The aim of this study was to investigate the perceptions of foundation phase educators about ADHD, specifically their views on its causes, appropriate interventions and…

Cingulate, Frontal and Parietal Cortical Dysfunction in Attention-Deficit/Hyperactivity Disorder

PubMed Central

Bush, George

2011-01-01

Functional and structural neuroimaging have identified abnormalities of the brain that are likely to contribute to the neuropathophysiology of attention-deficit/hyperactivity disorder (ADHD). In particular, hypofunction of the brain regions comprising the cingulo-frontal-parietal (CFP) cognitive-attention network have been consistently observed across studies. These are major components of neural systems that are relevant to ADHD, including cognitive/attention networks, motor systems and reward/feedback-based processing systems. Moreover, these areas interact with other brain circuits that have been implicated in ADHD, such as the “default mode” resting state network. ADHD imaging data related to CFP network dysfunction will be selectively highlighted here to help facilitate its integration with the other information presented in this special issue. Together, these reviews will help shed light on the neurobiology of ADHD. PMID:21489409

Fragile X Syndrome: Genetic Predisposition to Psychopathology.

ERIC Educational Resources Information Center

Bregman, Joel D.; And Others

1988-01-01

Psychiatric evaluation of 14 males (ages 3-27 years) with the fragile X syndrome found pervasive hyperactivity, impulsivity, and attentional deficits, and a significant degree of anxiety. However, diagnostic criteria for persistent pervasive developmental disorder and autism were not met. (Author/DB)

Problem Behaviors & Tourette Syndrome. Revised.

ERIC Educational Resources Information Center

Bruun, Ruth Dowling; And Others

This pamphlet discusses behavioral problems which are sometimes associated with Tourette Syndrome (TS), along with suggestions for parents to help manage these behaviors. Consideration is given to the following problems: obsessive-compulsive symptoms; attention deficit hyperactivity disorder; aggressive and explosive behaviors; self-injurious…

[Features of autonomic dysfunction in myofascial pain syndromes cervicobrachial localization].

PubMed

Морозова, О Г; Ярошевский, А А; Липинская, Я В

2015-01-01

The relevance of this study is due to the prevalence of autonomic disorders and musculoskeletal pain, especially among the young people of working age. In recent years, many authors in scientific works have been highlighted aspects of mutual development myofascial and autonomic dysfunction, which is caused by neurophysiological preconditions and anatomical and topographical relationships that need to be considered in the diagnostic and therapeutic approaches. To study the characteristics of the formation and flow of autonomic dysfunction syndrome with paroxysmal and permanent types of flow in patients with myofascial pain syndromes cervicobrachial localization. Using clinical neurological, vertebral neurological, neuropsychological methods of studying the severity of pain (visual analogue scale and Pain questionnaire of Mac Gill) examined 84 patients suffering from autonomic dysfunction on the background of myofascial pain syndromes cervicobrachial localization. To identify the features of vegetative regulation of patients were divided into two groups: group 1 (51 people) - with a permanent type of course; group 2 (33 patients) - a type of paroxysmal of course of autonomic dysfunction. It was found more pronounced disturbances in patients with paroxysmal type of course of autonomic dysfunction. The frequency and severity of autonomic paroxysms associated with the severity of musculo-tonic syndrome and location of active trigger points in the muscles of the neck and shoulder girdle, due to anatomic and topographic features of these muscles, namely the proximity of their location to the sympathetic formations neck. The formation and development of emotional and affective disorders in both groups played a significant role of pain and musculo-tonic syndrome. The syndrome of autonomic dysfunction, in particular its paroxysmal type of flow, on the one hand is a response to the development of myofascial pain syndromes cervicobrachial localization, with another - a factor that facilitates the development of pain and muscular-tonic syndromes, burdening the disease. In the diagnosis and treatment of myofascial and autonomic dysfunction should take into account comorbidity data of pathological conditions, which is important for developing individual therapeutic regimens.

Sons and daughters beyond your control: episodes in the prehistory of the attention deficit/hyperactivity syndrome.

PubMed

Foley, Paul Bernard

2014-09-01

Hyperactive and inattentive children have been discussed in both the pedagogic and medical literature since the nineteenth century, and many controversies associated with attention deficit and hyperactivity disorder (ADHD) have been repeatedly analyzed in different contexts. The 'prehistory' of the ADHD concept-that is, up to the definition of ADHD in DSM-III and of the corresponding 'hyperkinetic disorder' in ICD-9-is outlined, with an emphasis on the literature not previously discussed in English language reviews of the subject.

Tourette Syndrome Associated with Mental Retardation: A Single-Subject Treatment Study with Haloperidol.

ERIC Educational Resources Information Center

Rosenquist, Peter B.; And Others

1997-01-01

A study of a 35-year-old woman with severe mental retardation and Tourette syndrome examined the efficacy of haloperidol in the treatment of Tourette syndrome. Results indicate that the haloperidol treatment produced significant reduction of all tic topographies. Improvement was also seen in tic severity, hyperactivity, and compulsive behaviors.…

Pourfour du Petit Syndrome Associated With Right Eye Pressure.

PubMed

Evans, Randolph W; Garibay, Adam; Foroozan, Rod

2017-06-01

Pourfour du Petit (PDP) syndrome is a rare disorder characterized by ipsilateral mydriasis, eyelid retraction, and hemifacial hyperhidrosis caused by hyperactivity of the ipsilateral oculosympathetic pathway. A case is presented of PDP syndrome associated with likely ipsilateral occipital neuralgia. We review the causes and co-morbidities and the clinical features of PDP. © 2017 American Headache Society.

Minimal Brain Dysfunction and Otitis Media.

ERIC Educational Resources Information Center

Hersher, Leonard

1978-01-01

The frequency of otitis media among 22 hyperactive children (ages 7-to-13 years) with learning disorders was compared with the frequency of otitis media in a sample of 772 normal matched-age children. (Author/PHR)

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases.

PubMed

Şiraz, Ülkü Gül; Okdemir, Deniz; Direk, Gül; Akın, Leyla; Hatipoğlu, Nihal; Kendırcı, Mustafa; Kurtoğlu, Selim

2018-03-19

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

Neural basis of reward anticipation and its genetic determinants.

PubMed

Jia, Tianye; Macare, Christine; Desrivières, Sylvane; Gonzalez, Dante A; Tao, Chenyang; Ji, Xiaoxi; Ruggeri, Barbara; Nees, Frauke; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Bromberg, Uli; Büchel, Christian; Conrod, Patricia J; Dove, Rachel; Frouin, Vincent; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny A; Heinz, Andreas; Ittermann, Bernd; Lathrop, Mark; Lemaitre, Hervé; Martinot, Jean-Luc; Paus, Tomáš; Pausova, Zdenka; Poline, Jean-Baptiste; Rietschel, Marcella; Robbins, Trevor; Smolka, Michael N; Müller, Christian P; Feng, Jianfeng; Rothenfluh, Adrian; Flor, Herta; Schumann, Gunter

2016-04-05

Dysfunctional reward processing is implicated in various mental disorders, including attention deficit hyperactivity disorder (ADHD) and addictions. Such impairments might involve different components of the reward process, including brain activity during reward anticipation. We examined brain nodes engaged by reward anticipation in 1,544 adolescents and identified a network containing a core striatal node and cortical nodes facilitating outcome prediction and response preparation. Distinct nodes and functional connections were preferentially associated with either adolescent hyperactivity or alcohol consumption, thus conveying specificity of reward processing to clinically relevant behavior. We observed associations between the striatal node, hyperactivity, and the vacuolar protein sorting-associated protein 4A (VPS4A) gene in humans, and the causal role of Vps4 for hyperactivity was validated in Drosophila Our data provide a neurobehavioral model explaining the heterogeneity of reward-related behaviors and generate a hypothesis accounting for their enduring nature.

Neural basis of reward anticipation and its genetic determinants

PubMed Central

Jia, Tianye; Macare, Christine; Desrivières, Sylvane; Gonzalez, Dante A.; Tao, Chenyang; Ji, Xiaoxi; Ruggeri, Barbara; Nees, Frauke; Banaschewski, Tobias; Barker, Gareth J.; Bokde, Arun L. W.; Bromberg, Uli; Büchel, Christian; Conrod, Patricia J.; Dove, Rachel; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny A.; Heinz, Andreas; Ittermann, Bernd; Lathrop, Mark; Lemaitre, Hervé; Martinot, Jean-Luc; Paus, Tomáš; Pausova, Zdenka; Poline, Jean-Baptiste; Rietschel, Marcella; Robbins, Trevor; Müller, Christian P.; Feng, Jianfeng; Rothenfluh, Adrian; Flor, Herta; Schumann, Gunter

2016-01-01

Dysfunctional reward processing is implicated in various mental disorders, including attention deficit hyperactivity disorder (ADHD) and addictions. Such impairments might involve different components of the reward process, including brain activity during reward anticipation. We examined brain nodes engaged by reward anticipation in 1,544 adolescents and identified a network containing a core striatal node and cortical nodes facilitating outcome prediction and response preparation. Distinct nodes and functional connections were preferentially associated with either adolescent hyperactivity or alcohol consumption, thus conveying specificity of reward processing to clinically relevant behavior. We observed associations between the striatal node, hyperactivity, and the vacuolar protein sorting-associated protein 4A (VPS4A) gene in humans, and the causal role of Vps4 for hyperactivity was validated in Drosophila. Our data provide a neurobehavioral model explaining the heterogeneity of reward-related behaviors and generate a hypothesis accounting for their enduring nature. PMID:27001827

Uncovering Collaborative Literacy Strategies, Alternative Assessments, and a Personalized Behavior Plan to Support Learners with Attention Deficit Hyperactivity Disorder

ERIC Educational Resources Information Center

LaMantia, Dana J.

2012-01-01

The purpose of this study was to delve into the challenges of collaborative literacy instruction, literacy assessments, and the development of behavior plans in order to support Attention Deficit Hyperactivity Disorder (ADHD) learners in an urban classroom setting. The DSM-IV states that the neuropsychiatry syndrome of ADHD affects approximately…

Anxiety Symptoms in Boys with Autism Spectrum Disorder, Attention-Deficit Hyperactivity Disorder, or Chronic Multiple Tic Disorder and Community Controls

ERIC Educational Resources Information Center

Guttmann-Steinmetz, Sarit; Gadow, Kenneth D.; DeVincent, Carla J.; Crowell, Judy

2010-01-01

We compared symptoms of generalized anxiety disorder (GAD) and separation anxiety disorder (SAD) in 5 groups of boys with neurobehavioral syndromes: attention-deficit/hyperactivity disorder (ADHD) plus autism spectrum disorder (ASD), ADHD plus chronic multiple tic disorder (CMTD), ASD only, ADHD only, and community Controls. Anxiety symptoms were…

Cellular Basis for Learning Impairment in Fragile X Syndrome

DTIC Science & Technology

2015-08-01

the leading cause of inherited intellectual disability and results in cognitive impairment, hyperactivity , attention deficits , seizure disorders ...impairment, hyperactivity , attention deficits and seizure disorders . Previous studies using a mouse model for FXS (Fmr1- KO) have described impairments in...neurogenesis in adult fragile X mice, test fragile X mice for learning deficits in hippocampal-independent tasks, and determine how synaptic

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

PubMed

Zhou, Yaoyao; Zhang, Junfeng

2014-09-20

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

Frontal dysfunctions of impulse control - a systematic review in borderline personality disorder and attention-deficit/hyperactivity disorder.

PubMed

Sebastian, Alexandra; Jung, Patrick; Krause-Utz, Annegret; Lieb, Klaus; Schmahl, Christian; Tüscher, Oliver

2014-01-01

Disorders such as borderline personality disorder (BPD) or attention-deficit/hyperactivity disorder (ADHD) are characterized by impulsive behaviors. Impulsivity as used in clinical terms is very broadly defined and entails different categories including personality traits as well as different cognitive functions such as emotion regulation or interference resolution and impulse control. Impulse control as an executive function, however, is neither cognitively nor neurobehaviorally a unitary function. Recent findings from behavioral and cognitive neuroscience studies suggest related but dissociable components of impulse control along functional domains like selective attention, response selection, motivational control, and behavioral inhibition. In addition, behavioral and neural dissociations are seen for proactive vs. reactive inhibitory motor control. The prefrontal cortex with its sub-regions is the central structure in executing these impulse control functions. Based on these concepts of impulse control, neurobehavioral findings of studies in BPD and ADHD were reviewed and systematically compared. Overall, patients with BPD exhibited prefrontal dysfunctions across impulse control components rather in orbitofrontal, dorsomedial, and dorsolateral prefrontal regions, whereas patients with ADHD displayed disturbed activity mainly in ventrolateral and medial prefrontal regions. Prefrontal dysfunctions, however, varied depending on the impulse control component and from disorder to disorder. This suggests a dissociation of impulse control related frontal dysfunctions in BPD and ADHD, although only few studies are hitherto available to assess frontal dysfunctions along different impulse control components in direct comparison of these disorders. Yet, these findings might serve as a hypothesis for the future systematic assessment of impulse control components to understand differences and commonalities of prefrontal cortex dysfunction in impulsive disorders.

Developmental Right-Hemisphere Syndrome: Clinical Spectrum of the Nonverbal Learning Disability.

ERIC Educational Resources Information Center

Gross-Tsur, Varda; And Others

1995-01-01

This study reports clinical characteristics of developmental right-hemisphere syndrome, a nonverbal learning disability, in 20 children (mean age 9.5 years) who also manifested attention-deficit/hyperactivity disorder, graphomotor problems, and slow performance. Diagnostic criteria included emotional and interpersonal difficulties, paralinguistic…

Tourette Syndrome and Associated Features and the School Aged Child.

ERIC Educational Resources Information Center

Willis, Christopher

Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…

The Psychoeducational Characteristics of Children with Turner Syndrome.

ERIC Educational Resources Information Center

Rovet, Joanne F.

1993-01-01

This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

Early maladaptive schemas in adult patients with attention deficit hyperactivity disorder.

PubMed

Philipsen, Alexandra; Lam, Alexandra P; Breit, Sigrid; Lücke, Caroline; Müller, Helge H; Matthies, Swantje

2017-06-01

The main purpose of this study was to examine whether adult patients with attention deficit hyperactivity disorder (ADHD) demonstrate sets of dysfunctional cognitive beliefs and behavioural tendencies according to Jeffrey Young's schema-focused therapy model. Sets of dysfunctional beliefs (maladaptive schemas) were assessed with the Young Schema Questionnaire (YSQ-S2) in 78 adult ADHD patients and 80 control subjects. Patients with ADHD scored significantly higher than the control group on almost all maladaptive schemas. The 'Failure', 'Defectiveness/Shame', 'Subjugation' and 'Emotional Deprivation' schemas were most pronounced in adult ADHD patients, while only 'Vulnerability to Harm or Illness' did not differ between the two groups. The schemas which were most pronounced in adult patients with ADHD correspond well with their learning histories and core symptoms. By demonstrating the existence of early maladaptive schemas in adults suffering from ADHD, this study suggests that schema theory may usefully be applied to adult ADHD therapy.

Deficient attention is hard to find: applying the perceptual load model of selective attention to attention deficit hyperactivity disorder subtypes.

PubMed

Huang-Pollock, Cynthia L; Nigg, Joel T; Carr, Thomas H

2005-11-01

Whether selective attention is a primary deficit in childhood Attention Deficit Hyperactivity Disorder (ADHD) remains in active debate. We used the perceptual load paradigm to examine both early and late selective attention in children with the Primarily Inattentive (ADHD-I) and Combined subtypes (ADHD-C) of ADHD. No evidence emerged for selective attention deficits in either of the subtypes, but sluggish cognitive tempo was associated with abnormal early selection. At least some, and possibly most, children with DSM-IV ADHD have normal selective attention. Results support the move away from theories of attention dysfunction as primary in ADHD-C. In ADHD-I, this was one of the first formal tests of posterior attention network dysfunction, and results did not support that theory. However, ADHD children with sluggish cognitive tempo (SCT) warrant more study for possible early selective attention deficits.

[The clinical phenomenology of Rett's syndrome].

PubMed

Calderón-González, R; Calderón-Sepulveda, R F; Treviño-Welsh, J

1999-01-01

The work was done to facilitate the clinical diagnosis and understanding of Rett syndrome (RS) by grouping the symptoms and signs in areas of neurological disfunction. This is a retrospective, longitudinal and observational study of 30 young females whose clinical manifestations were grouped using a modified Fitzgerald et al. scale for motor and behavior evaluation of patients with RS. All patients were videotaped at least during one or several appointments during their follow-up for a period of 1 to 10 years. All patients and videotapes were reviewed independently by the three authors. We followed the clinical diagnostic criteria of classic RS, and grouped the symptoms and signs in 12 groups of clinical phenomenology that represented specific areas of central or peripheral nervous system involvement: 1) dementia syndrome (fronto-temporo-parietal and limbic dysfunction); 2) extrapyramidal syndrome (basal ganglia dysfunction); 3) respiratory function disorders (brain stem reticular system disfunction); 4) sleep disorders (reticular system and limbic dysfunction); 5) epilepsy (cortico-subcortical paroxysmal bioelectrical dysfunction); 6) lower motor neuron syndrome (neuropathic dysfunction and/or peripheral neuropathy); 7) body growth retardation; 8) tonic-postural skeletal deformities; 9) deficit of pain sensation (nociceptive deficit); 10) pseudobulbar dysfunction; 11) autonomic dysfunction and 12) others (microcephaly and bruxism). In clinical practice, we recommend the use of this grouping of symptoms and signs because it makes facilities the clinical study, definition of areas of dysfunction and diagnosis of the patient with RS.

Effective Methylphenidate Treatment of an Adult Aspergers Syndrome and a Comorbid ADHD: A Clinical Investigation with fMRI

ERIC Educational Resources Information Center

Roy, Mandy; Dillo, Wolfgang; Bessling, Svenja; Emrich, Hinderk M.; Ohlmeier, Martin D.

2009-01-01

Objective: Aspergers Syndrome can present as comorbid with attention-deficit/hyperactivity disorder (ADHD). Very few cases of the assessment and treatment of this comorbidity in adulthood are described in the research literature. Method: A 26-year-old patient as suffering from ADHD in combination with Aspergers Syndrome is diagnosed. Treatment is…

Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

PubMed

Itoh, Masayuki; Iwasaki, Yuji; Ohno, Kohsaku; Inoue, Takehiko; Hayashi, Masaharu; Ito, Shuichi; Matsuzaka, Tetsuo; Ide, Shuhei; Arima, Masataka

2014-05-01

We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

[Herbs for calming liver and suppressing yang in treatment of hyperthyroidism with hyperactive liver yang: herbal effects on lymphocyte protein expression].

PubMed

Li, Xiangping; Yin, Tao; Zhong, Guangwei; Li, Wei; Luo, Yanhong; Xiang, Lingli; Liu, Zhehao

2011-07-01

To observe the herbal effects on hyperthyroidism patients with syndrome of hyperactivity of liver-Yang by method for calming the liver and suppressing Yang and investigate its effects on the lymphocyte protein expression. This approach may lay a foundation for the further investigation of the curative mechanisms of calming the liver and suppressing Yang treatment. A total of 48 hyperthyroidism patients with syndrome of hyperactivity of liver-Yang were randomly divided into treatment group and control group. The treatment group was treated by method for calming the liver and suppressing Yang in accordance with traditional Chinese medicine (TCM) and the control group with thiamazole tablets for three periods of treatment The therapeutic effects, the score of TCM symptom, electrocardiogram (P wave), thyroid hormones and ultrasound were observed in both groups before and after the treatment. The side effects in the treatment course were observed in both groups. The level of differential protein expression was analyzed by two-dimensional electrphoresis and matrix assisted laser desorption/ionizaton time-of-flight mass spectrometry. The treatment group has the effect on stepping down the heart rate, cutting down the P wave amplitude changes, regulating the level of thyroid hormones and decreasing the volume of thyromegaly. There are not statistically significant between the treatment group and control group. However, the treatment group has obviously better effect on regulating TCM symptom and decreasing the side reaction than the control group (P<0.05). There are not statistically significant on the total effective between the treatment group and control group. The average spots in lymphocyte for normal people, before and after treating hyperthyroidism patients with syndrome of hyperactivity of liver-Yang were (429 +/- 31), (452 +/- 28) and (437 +/- 36) spots respectively. Eight down-regulated protein expressions and 11 up-regulated protein expressions were obtained in the hyperthyroidism patients with syndrome of hyperactivity of liver-Yang and normal people. Five strengthened expressions of protein were also obtained in 8 down-regulated expressions of protein and 8 lower expressions of protein in 11 up-regulated expressions of protein before and after treating the migraine patients with syndrome of hyperactivity of liver-Yang. Ten of the total 8 differential protein spots were successfully identified by MALDI-TOF-MS. The functions of these proteins were involved in metabolism associated, transportation, antioxidation, sigal transduction and immume associated protein, etc. according to information provided by NCBI and MSDB database. In this study, the TCM complex prescription with herbs for calming the liver and suppressing Yang can regulate the thyroid hormones, improves TCM symptoms, and decrease the adverse reaction. It can possibly regulate lymphocyte protein expression.

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report.

PubMed

Aljabban, Lama; Kassab, Lina; Bakoura, Nour Alhuda; Alsalka, Mohammad Fayez; Maksoud, Ismaeil

2016-11-22

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome. We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death. The findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

Fragile X Syndrome--From Genes to Cognition

ERIC Educational Resources Information Center

Schneider, A.; Hagerman, R. J.; Hessl, D.

2009-01-01

Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperactivity, short attention span, emotional problems including…

Body temperature, activity and melatonin profiles in adults with attention-deficit/hyperactivity disorder and delayed sleep: a case-control study.

PubMed

Bijlenga, Denise; Van Someren, Eus J W; Gruber, Reut; Bron, Tannetje I; Kruithof, I Femke; Spanbroek, Elise C A; Kooij, J J Sandra

2013-12-01

Irregular sleep-wake patterns and delayed sleep times are common in adults with attention-deficit/hyperactivity disorder, but mechanisms underlying these problems are unknown. The present case-control study examined whether circadian abnormalities underlie these sleep problems in a naturalistic home setting. We included 12 medication-naïve patients with attention-deficit/hyperactivity disorder and delayed sleep phase syndrome, and 12 matched healthy controls. We examined associations between sleep/wake rhythm in attention-deficit/hyperactivity disorder and circadian parameters (i.e. salivary melatonin concentrations, core and skin temperatures, and activity patterns) of the patients and controls during five consecutive days and nights. Daily bedtimes were more variable within patients compared with controls (F = 8.19, P < 0.001), but melatonin profiles were equally stable within individuals. Dim-light melatonin onset was about 1.5 h later in the patient group (U = 771, Z = -4.63, P < 0.001). Patients slept about 1 h less on nights before work days compared with controls (F = 11.21, P = 0.002). The interval between dim-light melatonin onset and sleep onset was on average 1 h longer in patients compared with controls (U = 1117, Z = -2.62, P = 0.009). This interval was even longer in patients with extremely late chronotype. Melatonin, activity and body temperatures were delayed to comparable degrees in patients. Overall temperatures were lower in patients than controls. Sleep-onset difficulties correlated with greater distal-proximal temperature gradient (DPG; i.e. colder hands, r(2)  = -0.32, P = 0.028) in patients. Observed day-to-day bedtime variability of individuals with attention-deficit/hyperactivity disorder and delayed sleep phase syndrome were not reflected in their melatonin profiles. Irregular sleep-wake patterns and delayed sleep in individuals with attention-deficit/hyperactivity disorder and delayed sleep phase syndrome are associated with delays and dysregulations of the core and skin temperatures. © 2013 European Sleep Research Society.

Mind-body interventions: applications in neurology.

PubMed

Wahbeh, Helané; Elsas, Siegward-M; Oken, Barry S

2008-06-10

Half of the adults in the United States use complementary and alternative medicine with mind-body therapy being the most commonly used form. Neurology patients often turn to their physicians for insight into the effectiveness of the therapies and resources to integrate them into their care. The objective of this article is to give a clinical overview of mind-body interventions and their applications in neurology. Medline and PsychInfo were searched on mind-body therapies and neurologic disease search terms for clinical trials and reviews and published evidence was graded. Meditation, relaxation, and breathing techniques, yoga, tai chi, and qigong, hypnosis, and biofeedback are described. Mind-body therapy application to general pain, back and neck pain, carpal tunnel syndrome, headaches, fibromyalgia, multiple sclerosis, epilepsy, muscular dysfunction, stroke, aging, Parkinson disease, stroke, and attention deficit-hyperactivity disorder are reviewed. There are several conditions where the evidence for mind-body therapies is quite strong such as migraine headache. Mind-body therapies for other neurology applications have limited evidence due mostly to small clinical trials and inadequate control groups.

[Formula: see text]Executive functioning and its relation to ASD and ADHD symptomatology in 22q11.2 deletion syndrome.

PubMed

de Sonneville, Leo M J; Hidding, Elske; van Engeland, Herman; Vorstman, Jacob A S; Sijmens-Morcus, Monique E J; Swaab, Hanna

2018-01-01

Children with 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial-syndrome) are at risk for the developmental disorders, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this study, the relation between executive functioning (EF) and the severity of ADHD and ASD symptoms is examined, since EF is known to be important in relation to emotional and behavioral problems. The participants consist of 58 children (38 females) with a mean age of 13.5 years (SD 2.6). Standardized assessment was used to evaluate the severity of ASD and ADHD symptomatology. The major aspects of EF, i.e., cognitive flexibility, inhibition, sustained attention, distractibility, working memory and reaction speed, were evaluated. The profile of EF in 22q11DS was found to be characterized by weaker performance compared to the norms on all subdomains of EF. Poor cognitive flexibility and inhibition, as well as high distractibility, were found to be related to more severe ASD symptoms, while poor quality of sustained attention and high distractibility were found to be related to more severe ADHD symptoms. It is concluded that children with 22q11DS experience impairments in EF, and that the degree of impairment on specific EF subdomains is related to the severity of ASD and/or ADHD symptomatology. These results may help in defining the mediating role of neurocognitive dysfunctions in the development of social and behavioral problems in 22q11DS.

Intellectual Functioning in Relation to Autism and ADHD Symptomatology in Children and Adolescents with 22q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Hidding, E.; Swaab, H.; Sonneville, L. M. J.; Engeland, H.; Sijmens-Morcus, M. E. J.; Klaassen, P. W. J.; Duijff, S. N.; Vorstman, J. A. S.

2015-01-01

Background: The 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial syndrome) is associated with an increased risk of various disorders, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). With this study, we aimed to investigate the relation between intellectual functioning and severity of ASD and ADHD…

Tourette Syndrome: School-Based Interventions for Tics and Associated Conditions

ERIC Educational Resources Information Center

Koutsoklenis, Athanasios; Theodoridou, Zoe

2012-01-01

Tourette syndrome (TS) is a neurological disorder characterized by motor and phonic tics that follow a fluctuating pattern of severity, intensity and frequency. TS is often associated with other conditions such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. This complex phenotype affects the…

Serving Clients with Tourette Syndrome: A Manual for Service Providers.

ERIC Educational Resources Information Center

Meyers, Abbey S.

The booklet is intended to provide an overview of Tourette Syndrome, (TS), a neurological movement disorder characterized by multiple involuntary tics, uncontrollable vocalizations, and a range of behavior problems including attention deficit and hyperactivity. Typical characteristics of TS are described along with information on etiology,…

Developmental Changes in Cognitive and Behavioural Functioning of Adolescents with Fragile-X Syndrome

ERIC Educational Resources Information Center

Frolli, A.; Piscopo, S.; Conson, M.

2015-01-01

Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

Astrocyte dysfunction in temporal lobe epilepsy: K+ channels and gap junction coupling.

PubMed

Steinhäuser, Christian; Seifert, Gerald; Bedner, Peter

2012-08-01

Astrocytes are endowed with the machinery to sense and respond to neuronal activity. Recent work has demonstrated that astrocytes play important physiological roles in the CNS, e.g., they synchronize action potential firing, ensure ion homeostasis, transmitter clearance and glucose metabolism, and regulate the vascular tone. Astrocytes are abundantly coupled through gap junctions, which is a prerequisite to redistribute elevated K(+) from sites of excessive neuronal activity to sites of lower extracellular K(+) concentration. Recent studies identified dysfunctional astrocytes as crucial players in epilepsy. Investigation of specimens from patients with pharmacoresistant temporal lobe epilepsy and epilepsy models revealed alterations in expression, localization, and function of astroglial inwardly rectifying K(+) (Kir) channels, particularly Kir4.1, which is suspected to entail impaired K(+) buffering. Gap junctions in astrocytes appear to play a dual role: on the one hand they counteract the generation of hyperactivity by facilitating clearance of elevated extracellular K(+) levels while in contrast, they constitute a pathway for energetic substrate delivery to fuel neuronal (hyper)activity. Recent work suggests that astrocyte dysfunction is causative of the generation or spread of seizure activity. Thus, astrocytes should be considered as promising targets for alternative antiepileptic therapies. Copyright © 2012 Wiley Periodicals, Inc.

Keratitis-Ichthyosis-Deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43

PubMed Central

García, Isaac E.; Maripillán, Jaime; Jara, Oscar; Ceriani, Ricardo; Palacios-Muñoz, Angelina; Ramachandran, Jayalakshimi; Olivero, Pablo; Pérez-Acle, Tomás; González, Carlos; Sáez, Juan C.; Contreras, Jorge E.; Martínez, Agustín D.

2015-01-01

Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like Keratitis Ichthyosis Deafness syndrome (KID). Because in the human skin Cx26 is co-expressed with other connexins, like Cx43 and Cx30, and since KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. Indeed, some Cx26 syndromic mutations showed gap junction dominant negative effect when co-expressed with wild type connexins, including Cx26 and Cx43. The nature of these interactions and the consequences on hemichannels and gap junction channels functions remain unknown. In this study we demonstrate that syndromic mutations at the N-terminus segment of Cx26, change connexin oligomerization compatibility, allowing aberrant interactions with Cx43. Strikingly, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) show exacerbated hemichannel activity, but nonfunctional gap junction channels; this also occurs for those Cx26 KID mutants that do not show functional homomeric hemichannels. Heterologous expression of these hyperactive heteromeric hemichannels increases cell membrane permeability, favoring ATP release and Ca2+ overload. The functional paradox produced by oligomerization of Cx43 and Cx26 KID mutants could underlie the severe syndromic phenotype in human skin. PMID:25625422

Attentional functions in children and adolescents with attention-deficit/hyperactivity disorder with and without comorbid tic disorder.

PubMed

Greimel, E; Herpertz-Dahlmann, B; Günther, T; Vitt, C; Konrad, K

2008-01-01

Although the coexistence of attention-deficit/hyperactivity disorder (ADHD) and tic disorder (TD) is common, the nature of association is yet not fully understood. Thus, the aim of the present study was to explore attentional dysfunction in children with pure ADHD compared to children with comorbid ADHD + TD. Three groups of 20 children each, aged 8-15 years with either ADHD, ADHD + chronic tic disorder or Tourette syndrome (ADHD + TD) and a healthy control group were compared in their performance on three computerized attention tasks. Tasks of sustained attention, selective attention and interference control were employed. In addition, parental ratings of ADHD symptom severity and behaviour problems were obtained. Both clinical groups were rated as equally inattentive, however, externalising symptoms were more severe in the ADHD group. Objective measures of attentional performance revealed differences between the groups: whereas the ADHD group was markedly impaired in sustaining attention and selective attention/inhibitory control, the ADHD + TD group only showed marginal deficits in selective attention/inhibitory control. Possible explanations for the superior performance of the comorbid group are discussed: In particular, the results may indicate that in some patients, the tic disorder produces behavioural symptoms of ADHD, but not the broad neurocognitive deficits that usually are associated with ADHD. Alternatively, compensatory neural mechanisms of TD patients may result in a better neuropsychological performance of comorbid patients relative to patients suffering from pure ADHD.

Executive Impairment Determines ADHD Medication Response: Implications for Academic Achievement

ERIC Educational Resources Information Center

Hale, James B.; Reddy, Linda A.; Semrud-Clikeman, Margaret; Hain, Lisa A.; Whitaker, James; Morley, Jessica; Lawrence, Kyle; Smith, Alex; Jones, Nicole

2011-01-01

Methylphenidate (MPH) often ameliorates attention-deficit/hyperactivity disorder (ADHD) behavioral dysfunction according to "indirect" informant reports and rating scales. The standard of care behavioral MPH titration approach seldom includes "direct" neuropsychological or academic assessment data to determine treatment…

Frontal Dysfunctions of Impulse Control – A Systematic Review in Borderline Personality Disorder and Attention-Deficit/Hyperactivity Disorder

PubMed Central

Sebastian, Alexandra; Jung, Patrick; Krause-Utz, Annegret; Lieb, Klaus; Schmahl, Christian; Tüscher, Oliver

2014-01-01

Disorders such as borderline personality disorder (BPD) or attention-deficit/hyperactivity disorder (ADHD) are characterized by impulsive behaviors. Impulsivity as used in clinical terms is very broadly defined and entails different categories including personality traits as well as different cognitive functions such as emotion regulation or interference resolution and impulse control. Impulse control as an executive function, however, is neither cognitively nor neurobehaviorally a unitary function. Recent findings from behavioral and cognitive neuroscience studies suggest related but dissociable components of impulse control along functional domains like selective attention, response selection, motivational control, and behavioral inhibition. In addition, behavioral and neural dissociations are seen for proactive vs. reactive inhibitory motor control. The prefrontal cortex with its sub-regions is the central structure in executing these impulse control functions. Based on these concepts of impulse control, neurobehavioral findings of studies in BPD and ADHD were reviewed and systematically compared. Overall, patients with BPD exhibited prefrontal dysfunctions across impulse control components rather in orbitofrontal, dorsomedial, and dorsolateral prefrontal regions, whereas patients with ADHD displayed disturbed activity mainly in ventrolateral and medial prefrontal regions. Prefrontal dysfunctions, however, varied depending on the impulse control component and from disorder to disorder. This suggests a dissociation of impulse control related frontal dysfunctions in BPD and ADHD, although only few studies are hitherto available to assess frontal dysfunctions along different impulse control components in direct comparison of these disorders. Yet, these findings might serve as a hypothesis for the future systematic assessment of impulse control components to understand differences and commonalities of prefrontal cortex dysfunction in impulsive disorders. PMID:25232313

Executive dysfunction, obsessive-compulsive symptoms, and attention deficit and hyperactivity disorder in Systemic Lupus Erythematosus: Evidence for basal ganglia dysfunction?

PubMed

Maciel, Ricardo Oliveira Horta; Ferreira, Gilda Aparecida; Akemy, Bárbara; Cardoso, Francisco

2016-01-15

Chorea is well described in a group of patients with Systemic Lupus Erythematosus (SLE). There is less information, however, on other movement disorders as well as non-motor neuropsychiatric features such as obsessive-compulsive symptoms (OCS), executive dysfunction and attention deficit and hyperactivity disorder (ADHD) in subjects with SLE. Fifty-four subjects with SLE underwent a battery of neuropsychiatric tests that included the Mini Mental State Examination, the Montreal Cognitive Assessment, the Frontal Assessment Battery (FAB), the FAS verbal and the categorical (animals) semantic fluency tests, the Obsessive and Compulsive Inventory - Revised, the Yale-Brown Obsessive and Compulsive Scale and Beck's Anxiety and Depression Scales. ADHD was diagnosed according to DSM-IV criteria. SLE disease activity and cumulative damage were evaluated according to the modified SLE Disease Activity Index 2000 (mSLEDAI-2K) and the SLICC/ACR, respectively. Six (11.1%) and 33 (61.1%) patients had cognitive impairment according to the MMSE and MoCA, respectively. Eleven (20.4%) had abnormal FAB scores, and 5 (9.3%) had lower semantic fluency scores than expected. The overall frequency of cognitive dysfunction was 72.2% (39 patients) and of neuropsychiatric SLE was 77.8% (42 patients). Two patients (3.7%) had movement disorders. Fifteen (27.8%) had OCS and 17 (31.5%) met diagnostic criteria for ADHD. ADHD and OCS correlated with higher disease activity, p=0.003 and 0.006, respectively. Higher cumulative damage correlated with lower FAB scores (p 0.026). Executive dysfunction, ADHD, OCS, and movement disorders are common in SLE. Our finding suggests that there is frequent basal ganglia dysfunction in SLE. Copyright © 2015 Elsevier B.V. All rights reserved.

[Assessing the treatment for sacroiliac joint dysfunction, piriformis syndrome and tarsal tunnel syndrome associated with lumbar degenerative disease].

PubMed

Morimoto, Daijiro; Isu, Toyohiko; Shimoda, Yuusuke; Hamauchi, Shuuji; Sasamori, Tooru; Sugawara, Atsushi; Kim, Kyongsong; Matsumoto, Ryouji; Isobe, Masanori

2009-09-01

Sacroiliac joint (SIJ) dysfunction, piriformis syndrome (PFS) and tarsal tunnel syndrome (TTS) produce symptoms similar to lumbar degenerative disease (LDD). Patients who have these diseases plus LDD sometimes experience residual symptoms after surgery for LDD. We therefore assessed the results of treatment of SIJ dysfunction, PFS and TTS associated with LDD. We assessed 25 patients who underwent surgery for LDD and were affected with SIJ dysfunction (12 patients), PFS (7 patients) or TTS (6 patients). SIJ dysfunction was treated with rest, drugs, pelvic band and sacroiliac joint block. PFS was treated with rest, drugs, physical exercise, injection of local anesthetic into the piriformis muscle, and surgical resection of the piriformis muscle. TTS was treated with drugs and tarsal tunnel opening. We analyzed the improvement score and recovery rate (JOA score) for both LDD surgery and the treatment of SIJ dysfunction, PFS and TTS. Symptom improvement was observed in all patients with SIJ dysfunction and PFS and in 4 patients with TTS. The improvement score and recovery rate of treatments for SIJ dysfunction, PFS and TTS were lower than those of surgery for LDD. The improvement score and recovery rate of treatment for SIJ dysfunction, PFS and TTS were not as high as those for LDD. To enhance patient satisfaction, it is important to consider these complicating diseases when designing treatments for LDD.

Construct Validation Theory Applied to the Study of Personality Dysfunction

PubMed Central

Zapolski, Tamika C. B.; Guller, Leila; Smith, Gregory T.

2013-01-01

The authors review theory validation and construct validation principles as related to the study of personality dysfunction. Historically, personality disorders have been understood to be syndromes of heterogeneous symptoms. The authors argue that the syndrome approach to description results in diagnoses of unclear meaning and constrained validity. The alternative approach of describing personality dysfunction in terms of homogeneous dimensions of functioning avoids the problems of the syndromal approach and has been shown to provide more valid description and diagnosis. The authors further argue that description based on homogeneous dimensions of personality function/dysfunction is more useful, because it provides direct connections to validated treatments. PMID:22321263

Brain and Behavior in Children with 22Q11.2 Deletion Syndrome: A Volumetric and Voxel-Based Morphometry MRI Study

ERIC Educational Resources Information Center

Campbell, Linda E.; Daly, Eileen; Toal, Fiona; Stevens, Angela; Azuma, Rayna; Catani, Marco; Ng, Virginia; Van Amelsvoort, Therese; Chitnis, Xavier; Cutter, William; Murphy, Declan G. M.; Murphy, Kieran C.

2006-01-01

In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit hyperactivity disorder…

16 CFR 1303.5 - Findings.

Code of Federal Regulations, 2012 CFR

2012-01-01

... designed to eliminate or reduce is lead poisoning in children. The adverse effects of this poisoning in children can cause a range of disorders such as hyperactivity, slowed learning ability, withdrawal... functional disorders which are often included under the heading of minimal brain dysfunction. Studies suggest...

16 CFR 1303.5 - Findings.

Code of Federal Regulations, 2010 CFR

2010-01-01

... designed to eliminate or reduce is lead poisoning in children. The adverse effects of this poisoning in children can cause a range of disorders such as hyperactivity, slowed learning ability, withdrawal... functional disorders which are often included under the heading of minimal brain dysfunction. Studies suggest...

16 CFR 1303.5 - Findings.

Code of Federal Regulations, 2011 CFR

2011-01-01

... designed to eliminate or reduce is lead poisoning in children. The adverse effects of this poisoning in children can cause a range of disorders such as hyperactivity, slowed learning ability, withdrawal... functional disorders which are often included under the heading of minimal brain dysfunction. Studies suggest...

16 CFR 1303.5 - Findings.

Code of Federal Regulations, 2014 CFR

2014-01-01

... designed to eliminate or reduce is lead poisoning in children. The adverse effects of this poisoning in children can cause a range of disorders such as hyperactivity, slowed learning ability, withdrawal... functional disorders which are often included under the heading of minimal brain dysfunction. Studies suggest...

Short- and long-term outcomes of 1000 adult lung transplant recipients at a single center.

PubMed

Kreisel, Daniel; Krupnick, Alexander S; Puri, Varun; Guthrie, Tracey J; Trulock, Elbert P; Meyers, Bryan F; Patterson, G Alexander

2011-01-01

Lung transplantation has become accepted therapy for end-stage pulmonary disease. The objective of this study was to review a single-institution experience of adult lung transplants. We reviewed 1000 adult lung transplants that were performed at Washington University between July 1988 and January 2009. Transplants were performed for emphysema (52%), cystic fibrosis (18.2%), pulmonary fibrosis (16.1%), and pulmonary vascular disease (7.2%). Overall recipient age was 48 ± 13 years with an increase from 43 ± 12 years (July 1988-November 1993) to 50 ± 14 years (June 2005-January 2009). Overall incidence of primary graft dysfunction was 22.1%. Hospital mortality was higher for patients who had primary graft dysfunction (primary graft dysfunction, 13.6%; no primary graft dysfunction, 4%; P < .001). Freedom from bronchiolitis obliterans syndrome was 84% at 1 year, 38.2% at 5 years, and 12.2% at 10 years. Survival at 1, 5, 10, and 15 years was 84%, 56.4%, 32.2%, and 17.8%, respectively. Five-year survival improved from 49.6% (July 1988-November 1993) to 62.1% (October 2001-June 2005). Primary graft dysfunction was associated with lower survival at 1, 5, and 10 years (primary graft dysfunction: 72.8%, 43.9%, and 18.7%, respectively; no primary graft dysfunction: 87.1%, 59.8%, and 35.7%, respectively, P < .001) and lower rates of freedom from bronchiolitis obliterans syndrome (primary graft dysfunction: 78%, 27.5%, and 8.5%, respectively; no primary graft dysfunction: 85.4%, 40.7%, and 13.1%, respectively, P = .007). Five-year survival has improved over the study period, but long-term outcomes are limited by bronchiolitis obliterans syndrome. Primary graft dysfunction is associated with higher rates of bronchiolitis obliterans syndrome and impaired short- and long-term survival. A better understanding of primary graft dysfunction and bronchiolitis obliterans syndrome is critical to improve outcomes. Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

Tourette Syndrome and the School Nurse. Revised.

ERIC Educational Resources Information Center

Ort, Sharon I.; And Others

Information on Tourette Syndrome (TS), as well as transient and chronic tic disorders, is provided in this pamphlet for the school nurse, who can support and educate the child, family, and other school personnel. Information is included on genetic factors and behaviors that may be connected to TS: obsessive-compulsive symptoms, hyperactivity,…

Narrative Competence and "Internal State Language" of Children with Asperger Syndrome and ADHD

ERIC Educational Resources Information Center

Rumpf, Anna-Lena; Kamp-Becker, Inge; Becker, Katja; Kauschke, Christina

2012-01-01

The central question of the present study was whether there are differences between children with Asperger Syndrome (AS), children with attention deficit hyperactivity disorder (ADHD) and healthy controls (HC) with respect to the organization of narratives and their verbalization of internal states. Oral narrations of a wordless picture book…

Pediatric Multiple Organ Dysfunction Syndrome: Promising Therapies.

PubMed

Doctor, Allan; Zimmerman, Jerry; Agus, Michael; Rajasekaran, Surender; Bubeck Wardenburg, Juliane; Fortenberry, James; Zajicek, Anne; Mairson, Emma; Typpo, Katri

2017-03-01

To describe the state of the science, identify knowledge gaps, and offer potential future research questions regarding promising therapies for children with multiple organ dysfunction syndrome presented during the Eunice Kennedy Shriver National Institute of Child Health and Human Development Workshop on Pediatric Multiple Organ Dysfunction Syndrome (March 26-27, 2015). Literature review, research data, and expert opinion. Not applicable. Moderated by an expert from the field, issues relevant to the association of multiple organ dysfunction syndrome with a variety of conditions were presented, discussed, and debated with a focus on identifying knowledge gaps and research priorities. Summary of presentations and discussion supported and supplemented by relevant literature. Among critically ill children, multiple organ dysfunction syndrome is relatively common and associated with significant morbidity and mortality. For outcomes to improve, effective therapies aimed at preventing and treating this condition must be discovered and rigorously evaluated. In this article, a number of potential opportunities to enhance current care are highlighted including the need for a better understanding of the pharmacokinetics and pharmacodynamics of medications, the effect of early and optimized nutrition, and the impact of effective glucose control in the setting of multiple organ dysfunction syndrome. Additionally, a handful of the promising therapies either currently being implemented or developed are described. These include extracorporeal therapies, anticytokine therapies, antitoxin treatments, antioxidant approaches, and multiple forms of exogenous steroids. For the field to advance, promising therapies and other therapies must be assessed in rigorous manner and implemented accordingly.

[Organ damage and cardiorenal syndrome in acute heart failure].

PubMed

Casado Cerrada, Jesús; Pérez Calvo, Juan Ignacio

2014-03-01

Heart failure is a complex syndrome that affects almost all organs and systems of the body. Signs and symptoms of organ dysfunction, in particular kidney dysfunction, may be accentuated or become evident for the first time during acute decompensation of heart failure. Cardiorenal syndrome has been defined as the simultaneous dysfunction of both the heart and the kidney, regardless of which of the two organs may have suffered the initial damage and regardless also of their previous functional status. Research into the mechanisms regulating the complex relationship between the two organs is prompting the search for new biomarkers to help physicians detect renal damage in subclinical stages. Hence, a preventive approach to renal dysfunction may be adopted in the clinical setting in the near future. This article provides a general overview of cardiorenal syndrome and an update of the physiopathological mechanisms involved. Special emphasis is placed on the role of visceral congestion as an emergent mechanism in this syndrome. Copyright © 2014 Elsevier España, S.L. All rights reserved.

Syndromes with salivary dysfunction predispose to tooth wear: Case reports of congenital dysfunction of major salivary glands, Prader-Willi, congenital rubella, and Sjögren's syndromes.

PubMed

Young, W; Khan, F; Brandt, R; Savage, N; Razek, A A; Huang, Q

2001-07-01

Four cases-of congenital dysfunction of the major salivary glands as well as of Prader-Willi, congenital rubella, and Sjögren's syndromes-were identified in a series of 500 patients referred for excessive tooth wear. Although there was evidence of consumption of highly acidic drinks, some occlusal parafunction, and unacceptable toothbrushing habits, salivary dysfunction was the salient factor predisposing a patient to tooth wear in these syndromal cases. The 500 subjects have been characterized either as having medical conditions and medications that predispose them to xerostomia or lifestyles in which workplace- and sports-related dehydration lead to reduced salivary flow. Normal salivation, by buffering capacity, clearance by swallowing, pellicle formation, and capacity for remineralization of demineralized enamel, protects the teeth from extrinsic and intrinsic acids that initiate dental erosion. Thus, the syndromes, unrelated in many respects, underline the importance of normal salivation in the protection of teeth against tooth wear by erosion, attrition, and abrasion.

Attention deficit hyperactivity disorder: overdiagnosed or diagnoses missed?

PubMed

Taylor, Eric

2017-04-01

The prevalence of attention deficit hyperactivity disorder is about 5% of the child population, and it carries risks for mental health, educational and personal dysfunction, antisociality and death. The diagnosis in practice is made with remarkable differences in frequency between nations. Low rates in the UK, by comparison with research estimates, suggest that the condition may often be missed in clinical practice; the reasons are considered. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Is Reaction Time Variability in ADHD Mainly at Low Frequencies?

ERIC Educational Resources Information Center

Karalunas, Sarah L.; Huang-Pollock, Cynthia L.; Nigg, Joel T.

2013-01-01

Background: Intraindividual variability in reaction times (RT variability) has garnered increasing interest as an indicator of cognitive and neurobiological dysfunction in children with attention deficit hyperactivity disorder (ADHD). Recent theory and research has emphasized specific low-frequency patterns of RT variability. However, whether…

16 CFR § 1303.5 - Findings.

Code of Federal Regulations, 2013 CFR

2013-01-01

... regulation is designed to eliminate or reduce is lead poisoning in children. The adverse effects of this poisoning in children can cause a range of disorders such as hyperactivity, slowed learning ability... functional disorders which are often included under the heading of minimal brain dysfunction. Studies suggest...

[Executive dysfunctions in adults with attention deficit hyperactivity disorder].

PubMed

Rodriguez-Jiménez, R; Cubillo, A; Jiménez-Arriero, M A; Ponce, G; Aragüés-Figuero, M; Palomo, T

Several different follow-up studies have shown that attention deficit hyperactivity disorder (ADHD) can persist into adulthood. To review the findings in adults with ADHD related to alterations in the executive functions. Research conducted among children with ADHD has revealed the existence of alterations in different tasks that evaluate the executive functions, such as the planning test, sustained attention tasks, cognitive flexibility, verbal fluency and working memory tasks, as well as several inhibition response tasks. In adults with ADHD, despite the lower number of reports in the literature and the methodological shortcomings that exist in some studies, analogous results have also been described with respect to executive functioning, namely, disorders affecting inhibition response, the capacity for planning, difficulties in cognitive flexibility and verbal fluency, and problems with working memory, which include aspects of spatial working memory, logical or visual memory. The findings we have available at present enable us to confirm the persistence of executive dysfunctions in adult patients with ADHD that are similar to those observed in children with ADHD.

Cytokine Release Syndrome After Chimeric Antigen Receptor T Cell Therapy for Acute Lymphoblastic Leukemia.

PubMed

Fitzgerald, Julie C; Weiss, Scott L; Maude, Shannon L; Barrett, David M; Lacey, Simon F; Melenhorst, J Joseph; Shaw, Pamela; Berg, Robert A; June, Carl H; Porter, David L; Frey, Noelle V; Grupp, Stephan A; Teachey, David T

2017-02-01

Initial success with chimeric antigen receptor-modified T cell therapy for relapsed/refractory acute lymphoblastic leukemia is leading to expanded use through multicenter trials. Cytokine release syndrome, the most severe toxicity, presents a novel critical illness syndrome with limited data regarding diagnosis, prognosis, and therapy. We sought to characterize the timing, severity, and intensive care management of cytokine release syndrome after chimeric antigen receptor-modified T cell therapy. Retrospective cohort study. Academic children's hospital. Thirty-nine subjects with relapsed/refractory acute lymphoblastic leukemia treated with chimeric antigen receptor-modified T cell therapy on a phase I/IIa clinical trial (ClinicalTrials.gov number NCT01626495). All subjects received chimeric antigen receptor-modified T cell therapy. Thirteen subjects with cardiovascular dysfunction were treated with the interleukin-6 receptor antibody tocilizumab. Eighteen subjects (46%) developed grade 3-4 cytokine release syndrome, with prolonged fever (median, 6.5 d), hyperferritinemia (median peak ferritin, 60,214 ng/mL), and organ dysfunction. Fourteen (36%) developed cardiovascular dysfunction treated with vasoactive infusions a median of 5 days after T cell therapy. Six (15%) developed acute respiratory failure treated with invasive mechanical ventilation a median of 6 days after T cell therapy; five met criteria for acute respiratory distress syndrome. Encephalopathy, hepatic, and renal dysfunction manifested later than cardiovascular and respiratory dysfunction. Subjects had a median of 15 organ dysfunction days (interquartile range, 8-20). Treatment with tocilizumab in 13 subjects resulted in rapid defervescence (median, 4 hr) and clinical improvement. Grade 3-4 cytokine release syndrome occurred in 46% of patients following T cell therapy for relapsed/refractory acute lymphoblastic leukemia. Clinicians should be aware of expanding use of this breakthrough therapy and implications for critical care units in cancer centers.

Attention checklist: a rating scale for mildly mentally handicapped adolescents.

PubMed

Das, J P; Melnyk, L

1989-06-01

A check list for attentional deficits without reference to hyperactive behavior observed in the classroom was constructed, and teachers' ratings were factor analyzed. The check-list rating was compared to a widely used rating scale for attention deficit-hyperactive disorder (AD-HD), the Abbreviated Conners Rating Scale. Both scales were given to 15 teachers to rate 100 mildly mentally handicapped adolescent students. Analysis showed that 33% of the mentally handicapped students were rated above 1.5 on the Conners Scale, which is the cut-off for hyperactivity. This is much higher than the prevalence of hyperactivity in regular classrooms. The two sets of ratings correlated strongly (.84). Check-list items were grouped under one factor explaining 70.7% of variance and so are recommended for use in discriminating attentional deficit in mentally handicapped as well as in regular class students. The high correlation with ratings on the Conners Scale suggests that AD-HD is a unitary syndrome with attention being most problematic for children labeled hyperactive.

Are Amygdalar Volume Alterations in Children with Tourette Syndrome Due to ADHD Comorbidity?

ERIC Educational Resources Information Center

Ludolph, Andrea G.; Pinkhardt, Elmar H.; van Elst, Ludger Tebartz; Libal, Gerhard; Ludolph, Albert C.; Fegert, Jorg M.; Kassubek, Jan

2008-01-01

Recent studies have shown that changes in the basal ganglia circuitry and limbic loops may play an important role both in Tourette syndrome (TS) and attention-deficit-hyperactivity disorder (ADHD). This study aimed to investigate in vivo possible morphological alterations of the amygdala as a key component of the limbic system. Amygdalar and total…

Renal denervation in a patient with Alport syndrome and rejected renal allograft.

PubMed

Raju, Narayana; Lloyd, Vincent; Yalagudri, Sachin; Das, Bharati; Ravikishore, A G

2015-12-01

Renal denervation is a new intervention to treat resistant hypertension. By applying radiofrequency (RF) to renal arteries, sympathetic nerves in adventitia layer of vascular wall can be denervated. Sympathetic hyperactivity is an important contributory factor in hypertension of hemodialysis patients. Hyperactive sympathetic nervous system aggravates hypertension and it can cause complications like left ventricular hypertrophy, heart failure, arrhythmias and atherogenesis. Our report illustrates the use of renal denervation using conventional RF catheter for uncontrolled hypertension in a patient with Alport syndrome and rejected renal allograft. Progressive and sustained reduction of blood pressure was obtained post-procedure and at 24 months follow-up with antihypertensives decreased from 6 to 2 per day, thereby demonstrating the safety, feasibility, and efficacy of the procedure. There are some reports available on the usefulness of this technique in hemodialysis patients; however, there are no studies of renal denervation in patients with Alport syndrome and failed allograft situation. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Neurocognitive Performance in Children with ADHD and OCD

ERIC Educational Resources Information Center

Vloet, Timo D.; Marx, Ivo; Kahraman-Lanzerath, Berrak; Zepf, Florian D.; Herpertz-Dahlmann, Beate; Konrad, Kerstin

2010-01-01

Attention-deficit/hyperactivity Disorder (ADHD) and obsessive-compulsive disorder (OCD) have both been linked to dysfunction in the cortico-striato-thalamo-cortical circuitry (CSTCC). However, the exact nature of neurocognitive deficits remains to be investigated in both disorders. We applied two neuropsychological tasks that tap into different…

Heart Rate and Reinforcement Sensitivity in ADHD

ERIC Educational Resources Information Center

Luman, Marjolein; Oosterlaan, Jaap; Hyde, Christopher; van Meel, Catharina S.; Sergeant, Joseph A.

2007-01-01

Background: Both theoretical and clinical accounts of attention-deficit/hyperactivity disorder (ADHD) implicate a dysfunctional reinforcement system. This study investigated heart rate parameters in response to feedback associated with reward and response cost in ADHD children and controls aged 8 to 12. Methods: Heart rate responses (HRRs)…

Endothelial dysfunction in patients with obstructive sleep apnoea independent of metabolic syndrome.

PubMed

Amra, Babak; Karbasi, Elaheh; Hashemi, Mohammad; Hoffmann-Castendiek, Birgit; Golshan, Mohammad

2009-05-01

Obstructive sleep apnoea syndrome (OSAS), characterised by intermittent hypoxia/re-oxygenation, has been identified as an independent risk factor for cardiovascular diseases and endothelial dysfunction. Our aim was to investigate flow-mediated dilatation (FMD) in patients with obstructive sleep apnoea with and without metabolic syndrome. Fifty-two subjects with OSAS diagnosed by polysomnography were classified into 2 groups according to the presence and absence of the metabolic syndrome and also according to the severity: mild to moderate OSAS group and severe OSAS group. Endothelial function of the brachial artery was evaluated by using high-resolution vascular ultrasound. Endothelial-dependent dilatation (EDD) was assessed by establishing reactive hyperaemia and endothelial-independent dilatation (EID) was determined by using sublingual isosorbide dinitrate. Spearman correlation and regression analysis were performed. EDD was not significantly different in patients with OSAS and metabolic syndrome as compared with OSAS without metabolic syndrome (4.62 +/- 0.69 versus 4.49 +/- 0.93, P >0.05). Endothelial dysfunction in OSA may be independent of metabolic syndrome.

Irritant vocal cord dysfunction at first misdiagnosed as reactive airway dysfunction syndrome.

PubMed

Galdi, Eugenia; Perfetti, Luca; Pagella, Fabio; Bertino, Giulia; Ferrari, Massimo; Moscato, Gianna

2005-06-01

This report describes a case of vocal cord dysfunction at first misdiagnosed as reactive airway dysfunction syndrome (RADS). A woman developed recurrent episodes of cough, dyspnea, and wheezing unresponsive to asthma therapy after irritant exposure to glutaraldehyde. Direct laryngoscopy was performed immediately after the induction of symptoms. Laryngoscopy showed a paradoxical adduction of the vocal cord on inspiration. Vocal cord dysfunction was diagnosed. A case of vocal cord dysfunction occurred after exposure to glutaraldhyde in a person with a history highly suggestive of RADS. Vocal cord dysfunction should always be considered in the differential diagnosis of patients with acute respiratory symptoms after exposure to irritants and with asthma-like symptoms that fail to respond to conventional asthma therapy.

Attention deficits and hyperactivity–impulsivity: What have we learned, what next?

PubMed Central

NIGG, JOEL T.

2015-01-01

The domains of self-regulation, self-control, executive function, inattention, and impulsivity cut across broad swathes of normal and abnormal development. Attention-deficit/hyperactivity disorder is a common syndrome that encompasses a portion of these domains. In the past 25 years research on attention-deficit/hyperactivity disorder has been characterized by dramatic advances in genetic, neural, and neuropsychological description of the syndrome as well as clarification of its multidimensional phenotypic structure. The limited clinical applicability of these research findings poses the primary challenge for the next generation. It is likely that clinical breakthroughs will require further refinement in describing heterogeneity or clinical/biological subgroups, renewed focus on the environment in the form of etiological events as well as psychosocial contexts of development, and integration of both with biological understanding. PMID:24342852

Stabilisation splint therapy for temporomandibular pain dysfunction syndrome.

PubMed

Al-Ani, M Z; Davies, S J; Gray, R J M; Sloan, P; Glenny, A M

2004-01-01

Pain dysfunction syndrome (PDS) is the most common temporomandibular disorder (TMD). There are many synonyms for this condition including facial arthromylagia, TMJ dysfunction syndrome, myofacial pain dysfunction syndrome, craniomandibular dysfunction and myofacial pain dysfunction. The aetiology of PDS is multifactorial and many different therapies have been advocated. To establish the effectiveness of stabilisation splint therapy in reducing symptoms in patients with pain dysfunction syndrome. Electronic databases (including the Cochrane Oral Health Group's Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); The Cochrane Library Issue 2, 2003; MEDLINE (1966 to June 2001); EMBASE (1966 to June 2001)) were searched. Handsearching of relevant journals was undertaken and reference lists of included studies screened. Experts in the field were contacted to identify unpublished articles. There was no language restriction. Randomised or quasi-randomised controlled trials (RCTs), in which splint therapy was compared concurrently to no treatment, other occlusal appliances, or any other active intervention. Data extraction was carried out independently and in duplicate. Validity assessment of the included trials was carried out at the same time as data extraction. Discrepancies were discussed and a third reviewer consulted. The author of the primary study was contacted where necessary. The studies were grouped according to treatment type and duration of follow up. Twenty potentially relevant RCTs were identified. Eight trials were excluded leaving 12 RCTs for analysis. Stabilisation splint therapy was compared to: acupuncture, bite plates, biofeedback/stress management, visual feedback, relaxation, jaw exercises, non-occluding appliance and minimal/no treatment. There was no evidence of a statistically significant difference in the effectiveness of stabilisation splint therapy (SS) in reducing symptoms in patients with pain dysfunction syndrome compared with other active treatments. There is weak evidence to suggest that the use of SS for the treatment of PDS may be beneficial for reducing pain severity, at rest and on palpation, when compared to no treatment. There is insufficient evidence either for or against the use of stabilisation splint therapy for the treatment of temporomandibular pain dysfunction syndrome. This review suggests the need for further, well conducted RCTs that pay attention to method of allocation, outcome assessment, large sample size, and enough duration of follow up. A standardisation of the outcomes of the treatment of PDS should be established in the RCTs.

Targeting Extracellular Histones with Novel RNA Biodrugs for the Treatment of Acute Lung Injury

DTIC Science & Technology

2017-10-01

inactivate) circulating histones and prevent the morbidity and mortality associated with multiple organ dysfunction/ acute respiratory distress syndrome ...patients. 15. SUBJECT TERMS Acute lung injury (ALI), acute respiratory distress syndrome (ARDS), multiple organ dysfunction syndrome , extracellular...are acute lung injury (ALI) from smoke/chlorine gas inhalation, burns, radiation , influenza and severe infection. Only recently have investigators

Electrophysiological Signs of Supplementary-Motor-Area Deficits in High-Functioning Autism but Not Asperger Syndrome: An Examination of Internally Cued Movement-Related Potentials

ERIC Educational Resources Information Center

Enticott, Peter G.; Bradshaw, John L.; Iansek, Robert; Tonge, Bruce J.; Rinehart, Nicole J.

2009-01-01

Aims: Motor dysfunction is common to both autism and Asperger syndrome, but the underlying neurophysiological impairments are unclear. Neurophysiological examinations of motor dysfunction can provide information about likely sites of functional impairment and can contribute to the debate about whether autism and Asperger syndrome are variants of…

Enduring sexual dysfunction after treatment with antidepressants, 5α-reductase inhibitors and isotretinoin: 300 cases.

PubMed

Healy, David; Le Noury, Joanna; Mangin, Derelie

2018-05-01

To investigate clinical reports of post-SSRI sexual dysfunction (PSSD), post-finasteride syndrome (PFS) and enduring sexual dysfunction following isotretinoin. Data from RxISK.org, a global adverse event reporting website, have been used to establish the clinical features, demographic details and clinical trajectories of syndromes of persistent sexual difficulties following three superficially different treatment modalities.RESULTSWe report on 300 cases of enduring sexual dysfunction from 37 countries following 14 different drugs comprised of serotonin reuptake inhibiting antidepressants, 5α-reductase inhibitors and isotretinoin. While reports of certain issues were unique to the antidepressants, such as the onset of premature ejaculation and persistent genital arousal disorder (PGAD), there was also a significant overlap in symptom profile between the drug groups, with common features including genital anaesthesia, pleasureless or weak orgasm, loss of libido and impotence. Secondary consequences included relationship breakdown and impaired quality of life.CONCLUSIONSThese data point to a legacy syndrome or syndromes comprising a range of disturbances to sexual function. More detailed studies will require developments in coding systems that recognise the condition(s). Further exploration of these tardive sexual syndromes may yield greater understanding of tardive syndromes in general.

Enduring sexual dysfunction after treatment with antidepressants, 5α-reductase inhibitors and isotretinoin: 300 cases

PubMed Central

Healy, David; Le Noury, Joanna; Mangin, Derelie

2018-01-01

OBJECTIVE: To investigate clinical reports of post-SSRI sexual dysfunction (PSSD), post-finasteride syndrome (PFS) and enduring sexual dysfunction following isotretinoin. METHODS: Data from RxISK.org, a global adverse event reporting website, have been used to establish the clinical features, demographic details and clinical trajectories of syndromes of persistent sexual difficulties following three superficially different treatment modalities. RESULTS We report on 300 cases of enduring sexual dysfunction from 37 countries following 14 different drugs comprised of serotonin reuptake inhibiting antidepressants, 5α-reductase inhibitors and isotretinoin. While reports of certain issues were unique to the antidepressants, such as the onset of premature ejaculation and persistent genital arousal disorder (PGAD), there was also a significant overlap in symptom profile between the drug groups, with common features including genital anaesthesia, pleasureless or weak orgasm, loss of libido and impotence. Secondary consequences included relationship breakdown and impaired quality of life. CONCLUSIONS These data point to a legacy syndrome or syndromes comprising a range of disturbances to sexual function. More detailed studies will require developments in coding systems that recognise the condition(s). Further exploration of these tardive sexual syndromes may yield greater understanding of tardive syndromes in general. PMID:29733030

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

PubMed

Koç, Eyup; Bayrak, Gulden; Suher, Murat; Ensari, Cuneyt; Aktas, Dilek; Ensari, Arzu

2006-04-01

Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders.

PubMed

Ge, Yu-Xing; Shang, Bo; Chen, Wen-Zhen; Lu, You; Wang, Jue

2017-03-01

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders, which is different from the common clinical manifestations of MELAS syndrome, such as exercise intolerance, migraine-like headaches, hearing loss and seizures etc. There are considerable interests in the possibility that mitochondrial dysfunction may play a role in the pathogenesis of endocrine dysfunctions and psychiatric disorders in MELAS syndrome.

School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD.

PubMed

Chiang, Huey-Ling; Kao, Wei-Chih; Chou, Mei-Chun; Chou, Wen-June; Chiu, Yen-Nan; Wu, Yu-Yu; Gau, Susan Shur-Fen

2018-06-01

School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths. Their parents received a semi-structured psychiatric interview for their ASD and ADHD diagnoses and reported their school functions. Youths with ASD were further grouped into low-functioning autism (LFA, ASD with intellectual disability and developmental language delay, n = 44), high-functioning autism (HFA, ASD with no intellectual disability, n = 55) and Asperger's syndrome (AS, ASD with neither language delay nor intellectual disability, n = 61). Compared to TD, ASD had worse school functions in the domains of academic performance, attitude toward schoolwork, social interaction, and behavioral problems except for no academic differences from TD in HFA and ASD without ADHD. Subgroup analysis revealed that HFA and AS had better academic performance but showed worse attitude toward school than LFA. Comorbidity of ADHD negatively impacted all domains of school functions. Besides autistic and ADHD symptoms, oppositional symptoms, lower intelligence, older age, and female gender in youths also predicted school dysfunction. Although youths with ASD have school dysfunction in several domains, this study specifically addresses the role of intelligence and comorbid ADHD on their school dysfunction. Autism Res 2018, 11: 857-869. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Impaired school functions varied in ASD youths with different characteristics. Youths with autism spectrum disorder (ASD) encounter varying levels and domains of impaired performance at schools, such as lower academic performance, negative attitude toward school work, fewer reciprocal friendships, and more behavioral problems. Our results indicate that ASD youths without intellectual disability had better academic performance, but worse attitude toward school than those with intellectual disability. Co-occurrence with ADHD is associated with school dysfunction. In summary, intelligence and comorbid ADHD influences several domains of school functions. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Temporomandibular joint dysfunction syndrome. A clinical report.

PubMed

Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

1985-08-01

We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

Sinusoidal Endothelial Dysfunction Precedes Inflammation and Fibrosis in a Model of NAFLD

PubMed Central

Pasarín, Marcos; La Mura, Vincenzo; Gracia-Sancho, Jorge; García-Calderó, Héctor; Rodríguez-Vilarrupla, Aina; García-Pagán, Juan Carlos; Bosch, Jaime; Abraldes, Juan G.

2012-01-01

Non-alcoholic fatty liver disease (NAFLD) is the hepatic manifestation of the metabolic syndrome. Most morbidity associated with the metabolic syndrome is related to vascular complications, in which endothelial dysfunction is a major pathogenic factor. However, whether NAFLD is associated with endothelial dysfunction within the hepatic vasculature is unknown. The aims of this study were to explore, in a model of diet-induced overweight that expresses most features of the metabolic syndrome, whether early NAFLD is associated with liver endothelial dysfunction. Wistar Kyoto rats were fed a cafeteria diet (CafD; 65% of fat, mostly saturated) or a control diet (CD) for 1 month. CafD rats developed features of the metabolic syndrome (overweight, arterial hypertension, hypertryglyceridemia, hyperglucemia and insulin resistance) and liver steatosis without inflammation or fibrosis. CafD rats had a significantly higher in vivo hepatic vascular resistance than CD. In liver perfusion livers from CafD rats had an increased portal perfusion pressure and decreased endothelium-dependent vasodilation. This was associated with a decreased Akt-dependent eNOS phosphorylation and NOS activity. In summary, we demonstrate in a rat model of the metabolic syndrome that shows features of NAFLD, that liver endothelial dysfunction occurs before the development of fibrosis or inflammation. PMID:22509248

Blink rate in boys with fragile X syndrome: preliminary evidence for altered dopamine function.

PubMed

Roberts, J E; Symons, F J; Johnson, A-M; Hatton, D D; Boccia, M L

2005-09-01

Dopamine, a neurotransmitter involved in motor and cognitive functioning, can be non-invasively measured via observation of spontaneous blink rates. Blink rates have been studied in a number of clinical conditions including schizophrenia, autism, Parkinsons, and attention deficit/hyperactivity disorder with results implicating either hyper or hypo dopaminergic states. This study examined spontaneous blink rate in boys with fragile X syndrome (FXS). Blink rates of boys (4-8 years old) with FXS (n = 6) were compared with those of age-matched typically developing boys (n = 6) during active and passive tasks. Blink rates (blinks per minute) for each task were compared between the two groups. Then, the relation between blink measures and core FXS-related features [problem behaviours, arousal, fmr 1 protein (FMRP)] were examined within the group of boys with FXS. Blink rate in boys with FXS was significantly higher than typically developing boys during passive tasks. Within the FXS group, there were significant correlations between blink rate and problem behaviours and physiological arousal (i.e. heart activity) but not with FMRP. Observed differences in spontaneous blink rate between boys with and without FXS and the relation between blink rate and physiological and behavioural measures in boys with FXS suggests that further work examining dopamine dysfunction as a factor in the pathophysiology of FXS may be warranted.

Psychiatric disorders and family functioning in children and adolescents with functional abdominal pain syndrome.

PubMed

Ghanizadeh, Ahmad; Moaiedy, Farah; Imanieh, Mohammad Hadi; Askani, Hamid; Haghighat, Mahmood; Dehbozorgi, Gholamreza; Dehghani, Seyed Mohsen

2008-07-01

Functional abdominal pain syndrome (FAPS) is a functional gastrointestinal disorder. There is a heightened risk when conducting potentially dangerous and unnecessary medical investigations and procedures in children with FAPS. The aim of this study was to survey the rate of the psychiatric disorders and family functioning in children and adolescents with FAPS. The subjects were a consecutive new sample of 45 children and adolescents with FAPS, 45 with an organic abdominal pain, and 45 pain-free comparison subjects aged 5-18 years that were interviewed using the Farsi version of K-SADS. Family functioning and the severity of pain were also studied. About 51.1% of patients with FAPS suffered from at least one psychiatric disorder. Psychiatric disorders in the FAPS patients studied included general anxiety disorder (8.9%), obsessive-compulsive disorder (11.1%), attention deficit hyperactivity disorder (15.6%), separation anxiety disorder (24.4%), and major depressive disorder (15.6%). Except for generalized anxiety disorder and tic disorder, the other disorders were significantly more common in the FAPS group than in the two other control groups. Family functioning scores were not significantly different between groups. There is a high rate of psychiatric disorders in children and adolescents with FAPS in Iran, but our study found fewer incidences of disorders than previous reports have indicated. Family dysfunction difficulties in FAPS children are not more common than those in the control groups.

Erectile dysfunction, metabolic syndrome and arterial disease. Clinical-pathological relation by carotid ultrasonography.

PubMed

Arrabal-Polo, M A; Vera-Arroyo, B; Lahoz-García, C; Valderrama-Illana, P; Cámara-Ortega, M; Arrabal-Martín, M; Zuluaga-Gomez, A; Lopez-Carmona Pintado, F

2014-04-01

Different studies have shown the relationship between erectile dysfunction, metabolic syndrome and cardiovascular disease. The objective of this study was to evaluate the presence of arteriopathy performing carotid ultrasound in patients with and without erectile dysfunction. We conducted a case-control study with 44 patients consulting for erectile dysfunction and 20 controls. All subjects completed the IIEF-5 test and we studied the criteria for metabolic syndrome, and a carotid ultrasound to study the intima-media thickness and the presence of atherosclerotic plaques was performed. Mean intima-media thickness was .71mm±.21 for the right and of .71±.17 for the left carotid in patients with erectile dysfunction. In the control group, the means were .54±0.11 and 0.59±0.15mm respectively, statistically significant differences (P=.02 and P=.05 respectively). No plaque was found in any control, but in 25% of both carotid arteries of patients with erectile dysfunction (P=.01). As metabolic syndrome, according to the American Heart Association, were diagnosed 52.8% of patients with erectile dysfunction, and 16.7% of controls, and according to the International Diabetes Federation, 52.3% of patients with erectile dysfunction and 25% of controls met diagnostic criteria. In both cases there were significant differences (P<.01 and P=.02 respectively). We found a positive linear correlation between waist circumference and the intima-media thickness in both carotid (P<.05). Patients with erectile dysfunction may be at increased risk of cardiovascular disease, as determined by the presence of arterial disease in the carotid arteries, which indicates that we should made a more thorough and comprehensive study of patients with erectile dysfunction. Copyright © 2013 AEU. Published by Elsevier Espana. All rights reserved.

Adipose tissue mitochondrial dysfunction triggers a lipodystrophic syndrome with insulin resistance, hepatosteatosis, and cardiovascular complications

PubMed Central

Vernochet, Cecile; Damilano, Federico; Mourier, Arnaud; Bezy, Olivier; Mori, Marcelo A.; Smyth, Graham; Rosenzweig, Anthony; Larsson, Nils-Göran; Kahn, C. Ronald

2014-01-01

Mitochondrial dysfunction in adipose tissue occurs in obesity, type 2 diabetes, and some forms of lipodystrophy, but whether this dysfunction contributes to or is the result of these disorders is unknown. To investigate the physiological consequences of severe mitochondrial impairment in adipose tissue, we generated mice deficient in mitochondrial transcription factor A (TFAM) in adipocytes by using mice carrying adiponectin-Cre and TFAM floxed alleles. These adiponectin TFAM-knockout (adipo-TFAM-KO) mice had a 75–81% reduction in TFAM in the subcutaneous and intra-abdominal white adipose tissue (WAT) and interscapular brown adipose tissue (BAT), causing decreased expression and enzymatic activity of proteins in complexes I, III, and IV of the electron transport chain (ETC). This mitochondrial dysfunction led to adipocyte death and inflammation in WAT and a whitening of BAT. As a result, adipo-TFAM-KO mice were resistant to weight gain, but exhibited insulin resistance on both normal chow and high-fat diets. These lipodystrophic mice also developed hypertension, cardiac hypertrophy, and cardiac dysfunction. Thus, isolated mitochondrial dysfunction in adipose tissue can lead a syndrome of lipodystrophy with metabolic syndrome and cardiovascular complications.—Vernochet, C., Damilano, F., Mourier, A., Bezy, O., Mori, M. A., Smyth, G., Rosenzweig, A., Larsson, N.-G., Kahn, C. R. Adipose tissue mitochondrial dysfunction triggers a lipodystrophic syndrome with insulin resistance, hepatosteatosis, and cardiovascular complications. PMID:25005176

Comparative Effects of Stimulant Drugs in Hyperkinetic Children.

ERIC Educational Resources Information Center

Conners, C. Keith

The study compared the efficacy, side effects, and safety of magnesium pemoline (Cylert) and destroamphetamine (Dexedrine) as compared with placebo. Subjects were 81 children, ages 6-12 years, who evidenced one or more signs of minimal brain dysfunction, and were referred with major complaints of hyperactivity, short attention span,…

How Do Trait Dimensions Map onto ADHD Symptom Domains?

ERIC Educational Resources Information Center

Martel, Michelle M.; Nigg, Joel T.; von Eye, Alexander

2009-01-01

Theories of Attention-Deficit/Hyperactivity Disorder (ADHD) implicate dysfunctional regulation mechanisms that have been conceptually grouped into "top-down" control and "bottom-up" affective/reactive processes. This dual-process account can be invoked in relation to temperament or personality traits and may clarify how traits relate to ADHD. Two…

ADHD- and Medication-Related Brain Activation Effects in Concordantly Affected Parent-Child Dyads with ADHD

ERIC Educational Resources Information Center

Epstein, Jeffery N.; Casey, B. J.; Tonev, Simon T.; Davidson, Matthew C.; Reiss, Allan L.; Garrett, Amy; Hinshaw, Stephen P.; Greenhill, Laurence L.; Glover, Gary; Shafritz, Keith M.; Vitolo, Alan; Kotler, Lisa A.; Jarrett, Matthew A.; Spicer, Julie

2007-01-01

Background: Several studies have documented fronto-striatal dysfunction in children and adolescents with attention deficit/hyperactivity disorder (ADHD) using response inhibition tasks. Our objective was to examine functional brain abnormalities among youths and adults with ADHD and to examine the relations between these neurobiological…

ADHD Related Behaviors Are Associated with Brain Activation in the Reward System

ERIC Educational Resources Information Center

Stark, R.; Bauer, E.; Merz, C. J.; Zimmermann, M.; Reuter, M.; Plichta, M. M.; Kirsch, P.; Lesch, K. P.; Fallgatter, A. J.; Vaitl, D.; Herrmann, M. J.

2011-01-01

Neuroimaging studies on attention-deficit/hyperactivity disorder (ADHD) suggest dysfunctional reward processing, with hypo-responsiveness during reward anticipation in the reward system including the nucleus accumbens (NAcc). In this study, we investigated the association between ADHD related behaviors and the reward system using functional…

Serotonin syndrome: a complex but easily avoidable condition.

PubMed

Dvir, Yael; Smallwood, Patrick

2008-01-01

Serotonin syndrome is a potentially life-threatening adverse drug reaction caused by excessive serotonergic agonism in central and peripheral nervous system serotonergic receptors (Boyer EW, Shannon M. The serotonin syndrome. N Engl J Med 2005;352:1112-1120). Symptoms are characterized by a triad of neuron-excitatory features, which include (a) neuromuscular hyperactivity -- tremor, clonus, myoclonus, hyperreflexia and, in advanced stages, pyramidal rigidity; (b) autonomic hyperactivity -- diaphoresis, fever, tachycardia and tachypnea; (c) altered mental status -- agitation, excitement and, in advanced stages, confusion (Gillman PK. Monoamine oxidase inhibitors, opioid analgesics and serotonin toxicity. Br J Anaesth 2005;95:434-441). It arises when pharmacological agents increase serotonin neurotransmission at postsynaptic 5-hydroxytryptamine 1A and 5-hydroxytryptamine 2A receptors through increased serotonin synthesis, decreased serotonin metabolism, increased serotonin release, inhibition of serotonin reuptake or direct agonism of the serotonin receptors (Houlihan D. Serotonin syndrome resulting from coadministration of tramodol, venlafaxine, and mirtazapine. Ann Pharmacother 2004;38:411-413). The etiology is often the result of therapeutic drug use, intentional overdosing of serotonergic agents or complex interactions between drugs that directly or indirectly modulate the serotonin system (Boyer EW, Shannon M. The serotonin syndrome. N Engl J Med 2005;352:1112-1120). Due to the increasing availability of agents with serotonergic activity, physicians need to more aware of serotonin syndrome. The following case highlights the complex nature in which serotonin syndrome can arise, as well as the proper recognition and treatment of a potentially life-threatening yet easily avoidable condition.

The Brazilian contribution to Attention-Deficit/Hyperactivity Disorder molecular genetics in children and adolescents

PubMed Central

Genro, Júlia Pasqualini; Roman, Tatiana; Rohde, Luis Augusto; Hutz, Mara Helena

2012-01-01

Attention-Deficit/Hyperactivity Disorder (ADHD) is a common psychiatric condition of children worldwide. This disorder is defined by a combination of symptoms of inattention and hyperactivity/impulsivity. Diagnosis is based on a sufficient number of symptoms causing impairment in these two domains determining several problems in personal and academic life. Although genetic and environmental factors are important in ADHD etiology, how these factors influence the brain and consequently behavior is still under debate. It seems to be consensus that a frontosubcortical dysfunction is responsible, at least in part, for the ADHD phenotype spectrum. The main results from association and pharmacogenetic studies performed in Brazil are discussed. The investigations performed so far on ADHD genetics in Brazil and elsewhere are far from conclusive. New plausible biological hypotheses linked to neurotransmission and neurodevelopment, as well as new analytic approaches are needed to fully disclose the genetic component of the disorder. PMID:23411749

Use of Operational Criteria in an Office Practice for Diagnosis of Children Referred for Evaluation of Learning or Behavior Disorders.

ERIC Educational Resources Information Center

Brumback, Roger A.

1979-01-01

Operational criteria for childhood depression, specific learning disability, developmental hyperactivity, and Gilles de la Tourette syndrome were used to establish the correct diagnosis in 55 of 100 school age Ss. Forty-five Ss were diagnosed as having one of three classical neurological syndromes (epilepsy, sensorineural deafness, and childhood…

Exercise training decreases NADPH oxidase activity and restores skeletal muscle mass in heart failure rats.

PubMed

Cunha, Telma F; Bechara, Luiz R G; Bacurau, Aline V N; Jannig, Paulo R; Voltarelli, Vanessa A; Dourado, Paulo M; Vasconcelos, Andrea R; Scavone, Cristóforo; Ferreira, Júlio C B; Brum, Patricia C

2017-04-01

We have recently demonstrated that NADPH oxidase hyperactivity, NF-κB activation, and increased p38 phosphorylation lead to atrophy of glycolytic muscle in heart failure (HF). Aerobic exercise training (AET) is an efficient strategy to counteract skeletal muscle atrophy in this syndrome. Therefore, we tested whether AET would regulate muscle redox balance and protein degradation by decreasing NADPH oxidase hyperactivity and reestablishing NF-κB signaling, p38 phosphorylation, and proteasome activity in plantaris muscle of myocardial infarcted-induced HF (MI) rats. Thirty-two male Wistar rats underwent MI or fictitious surgery (SHAM) and were randomly assigned into untrained (UNT) and trained (T; 8 wk of AET on treadmill) groups. AET prevented HF signals and skeletal muscle atrophy in MI-T, which showed an improved exercise tolerance, attenuated cardiac dysfunction and increased plantaris fiber cross-sectional area. To verify the role of inflammation and redox imbalance in triggering protein degradation, circulating TNF-α levels, NADPH oxidase profile, NF-κB signaling, p38 protein levels, and proteasome activity were assessed. MI-T showed a reduced TNF-α levels, NADPH oxidase activity, and Nox2 mRNA expression toward SHAM-UNT levels. The rescue of NADPH oxidase activity induced by AET in MI rats was paralleled by reducing nuclear binding activity of the NF-κB, p38 phosphorylation, atrogin-1, mRNA levels, and 26S chymotrypsin-like proteasome activity. Taken together our data provide evidence for AET improving plantaris redox homeostasis in HF associated with a decreased NADPH oxidase, redox-sensitive proteins activation, and proteasome hyperactivity further preventing atrophy. These data reinforce the role of AET as an efficient therapy for muscle wasting in HF. NEW & NOTEWORTHY This study demonstrates, for the first time, the contribution of aerobic exercise training (AET) in decreasing muscle NADPH oxidase activity associated with reduced reactive oxygen species production and systemic inflammation, which diminish NF-κB overactivation, p38 phosphorylation, and ubiquitin proteasome system hyperactivity. These molecular changes counteract plantaris atrophy in trained myocardial infarction-induced heart failure rats. Our data provide new evidence into how AET may regulate protein degradation and thus prevent skeletal muscle atrophy. Copyright © 2017 the American Physiological Society.

TEMPOROMANDIBULAR PAIN DYSFUNCTION SYNDROME IN PATIENTS ATTENDING LAGOS UNIVERSITY TEACHING HOSPITAL, LAGOS, NIGERIA.

PubMed

Eweka, O M; Ogundana, O M; Agbelusi, G A

2016-01-01

Temporomandibular joint pain dysfunction syndrome (TMJPDS) is the most common temporomandibular disorder. This condition presents with symptoms of pain, restricted jaw movement and joint noise. Other symptoms include otalgia, headache, neck pain and trismus. To determine the pattern of Temporomandibular joint pain dysfunction syndrome patients managed at the Lagos University Teaching Hospital, Lagos, Nigeria. A descriptive study of patients with signs and symptoms of Temporomandibular joint pain dysfunction syndrome attending the Oral Medicine Clinic of Lagos University Teaching Hospital. Twenty-one patients with Temporomandibular joint pain dysfunction syndrome were enrolled into the study, out of which 10(48%) were females and 11(52%) were males. The age range was 23-81years with a mean of 45.2 ± 18.9 years. Majority of the patients 20(95.2%) complained of pain around the joint, in the pre-auricular region, in the muscles of mastication and the ear. While 7(35%) complained of clicking sounds, 10(47.6%) complained of pain on mouth opening and during mastication only. In all 5(23.8%) had impaired movement of the jaws, mouth opening was normal in 18(85.7%) but reduced in 3(14.3%) patients. Over half of patients 12(57%) experienced clicking sounds, there was tenderness around the temporomandibular joint in 16(76.2%) cases, pain in the ear of 7(33.3%) patients and 13(61.9%) people presented with tenderness of the muscles of mastication. Conservative management of all the cases resulted in resolution of the symptoms. Temporomandibular joint pain dysfunction syndrome has diverse clinical presentation and though distressing, it responds to prompt and effective conservative management.

ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

PubMed Central

Kocaay, Pınar; Şıklar, Zeynep; Çamtosun, Emine; Kendirli, Tanıl; Berberoğlu, Merih

2014-01-01

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction. PMID:25541898

ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity.

PubMed

Kocaay, Pınar; Şıklar, Zeynep; Çamtosun, Emine; Kendirli, Tanıl; Berberoğlu, Merih

2014-12-01

A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress. Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient. In addition to these features, the patient was found to have hypergonadotropic hypogonadism and megaloblastic anemia. Because of its high mortality and morbidity, the possibility of ROHHAD syndrome needs to be considered in all pediatric cases of early- and rapid-onset obesity associated with hypothalamic-pituitary endocrine dysfunction.

Human apolipoprotein B transgenic SHR/NDmcr-cp rats show exacerbated kidney dysfunction

PubMed Central

ASAHINA, Makoto; SHIMIZU, Fumi; OHTA, Masayuki; TAKEYAMA, Michiyasu; TOZAWA, Ryuichi

2015-01-01

Nephropathy frequently co-occurs with metabolic syndrome in humans. Metabolic syndrome is a cluster of metabolic diseases including obesity, diabetes, hypertension, and dyslipidemia, and some previous studies revealed that dyslipidemia contributes to the progression of kidney dysfunction. To establish a new nephropathy model with metabolic syndrome, we produced human apolipoprotein B (apoB) transgenic (Tg.) SHR/NDmcr-cp (SHR-cp/cp) rats, in which dyslipidemia is exacerbated more than in an established metabolic syndrome model, SHR-cp/cp rats. Human apoB Tg. SHR-cp/cp rats showed obesity, hyperinsulinemia, hypertension, and severe hyperlipidemia. They also exhibited exacerbated early-onset proteinuria, accompanied by increased kidney injury and increased oxidative and inflammatory markers. Histological analyses revealed the characteristic features of human apoB Tg. SHR-cp/cp rats including prominent glomerulosclerosis with lipid accumulation. Our newly established human apoB Tg. SHR-cp/cp rat could be a useful model for the nephropathy in metabolic syndrome and for understanding the interaction between dyslipidemia and renal dysfunction in metabolic syndrome. PMID:25912321

Human apolipoprotein B transgenic SHR/NDmcr-cp rats show exacerbated kidney dysfunction.

PubMed

Asahina, Makoto; Shimizu, Fumi; Ohta, Masayuki; Takeyama, Michiyasu; Tozawa, Ryuichi

2015-01-01

Nephropathy frequently co-occurs with metabolic syndrome in humans. Metabolic syndrome is a cluster of metabolic diseases including obesity, diabetes, hypertension, and dyslipidemia, and some previous studies revealed that dyslipidemia contributes to the progression of kidney dysfunction. To establish a new nephropathy model with metabolic syndrome, we produced human apolipoprotein B (apoB) transgenic (Tg.) SHR/NDmcr-cp (SHR-cp/cp) rats, in which dyslipidemia is exacerbated more than in an established metabolic syndrome model, SHR-cp/cp rats. Human apoB Tg. SHR-cp/cp rats showed obesity, hyperinsulinemia, hypertension, and severe hyperlipidemia. They also exhibited exacerbated early-onset proteinuria, accompanied by increased kidney injury and increased oxidative and inflammatory markers. Histological analyses revealed the characteristic features of human apoB Tg. SHR-cp/cp rats including prominent glomerulosclerosis with lipid accumulation. Our newly established human apoB Tg. SHR-cp/cp rat could be a useful model for the nephropathy in metabolic syndrome and for understanding the interaction between dyslipidemia and renal dysfunction in metabolic syndrome.

Developmental dyscalculia.

PubMed

Shalev, Ruth S

2004-10-01

Developmental dyscalculia is a specific learning disability affecting the normal acquisition of arithmetic skills. Genetic, neurobiologic, and epidemiologic evidence indicates that dyscalculia, like other learning disabilities, is a brain-based disorder. However, poor teaching and environmental deprivation have also been implicated in its etiology. Because the neural network of both hemispheres comprises the substrate of normal arithmetic skills, dyscalculia can result from dysfunction of either hemisphere, although the left parietotemporal area is of particular significance. The prevalence of developmental dyscalculia is 5 to 6% in the school-aged population and is as common in girls as in boys. Dyscalculia can occur as a consequence of prematurity and low birthweight and is frequently encountered in a variety of neurologic disorders, such as attention-deficit hyperactivity disorder (ADHD), developmental language disorder, epilepsy, and fragile X syndrome. Developmental dyscalculia has proven to be a persisting learning disability, at least for the short term, in about half of affected preteen pupils. Educational interventions for dyscalculia range from rote learning of arithmetic facts to developing strategies for solving arithmetic exercises. The long-term prognosis of dyscalculia and the role of remediation in its outcome are yet to be determined.

Myocardial perfusion imaging study of CO(2)-induced panic attack.

PubMed

Soares-Filho, Gastão L F; Machado, Sergio; Arias-Carrión, Oscar; Santulli, Gaetano; Mesquita, Claudio T; Cosci, Fiammetta; Silva, Adriana C; Nardi, Antonio E

2014-01-15

Chest pain is often seen alongside with panic attacks. Moreover, panic disorder has been suggested as a risk factor for cardiovascular disease and even a trigger for acute coronary syndrome. Patients with coronary artery disease may have myocardial ischemia in response to mental stress, in which panic attack is a strong component, by an increase in coronary vasomotor tone or sympathetic hyperactivity setting off an increase in myocardial oxygen consumption. Indeed, coronary artery spasm was presumed to be present in cases of cardiac ischemia linked to panic disorder. These findings correlating panic disorder with coronary artery disease lead us to raise questions about the favorable prognosis of chest pain in panic attack. To investigate whether myocardial ischemia is the genesis of chest pain in panic attacks, we developed a myocardial perfusion study through research by myocardial scintigraphy in patients with panic attacks induced in the laboratory by inhalation of 35% carbon dioxide. In conclusion, from the data obtained, some hypotheses are discussed from the viewpoint of endothelial dysfunction and microvascular disease present in mental stress response. Copyright © 2014 Elsevier Inc. All rights reserved.

Response Inhibition and Interference Control in Obsessive–Compulsive Spectrum Disorders

PubMed Central

van Velzen, Laura S.; Vriend, Chris; de Wit, Stella J.; van den Heuvel, Odile A.

2014-01-01

Over the past 20 years, motor response inhibition and interference control have received considerable scientific effort and attention, due to their important role in behavior and the development of neuropsychiatric disorders. Results of neuroimaging studies indicate that motor response inhibition and interference control are dependent on cortical–striatal–thalamic–cortical (CSTC) circuits. Structural and functional abnormalities within the CSTC circuits have been reported for many neuropsychiatric disorders, including obsessive–compulsive disorder (OCD) and related disorders, such as attention-deficit hyperactivity disorder, Tourette’s syndrome, and trichotillomania. These disorders also share impairments in motor response inhibition and interference control, which may underlie some of their behavioral and cognitive symptoms. Results of task-related neuroimaging studies on inhibitory functions in these disorders show that impaired task performance is related to altered recruitment of the CSTC circuits. Previous research has shown that inhibitory performance is dependent upon dopamine, noradrenaline, and serotonin signaling, neurotransmitters that have been implicated in the pathophysiology of these disorders. In this narrative review, we discuss the common and disorder-specific pathophysiological mechanisms of inhibition-related dysfunction in OCD and related disorders. PMID:24966828

Mind–body interventions

PubMed Central

Wahbeh, Helané; Elsas, Siegward-M.; Oken, Barry S.

2010-01-01

Objective Half of the adults in the United States use complementary and alternative medicine with mind–body therapy being the most commonly used form. Neurology patients often turn to their physicians for insight into the effectiveness of the therapies and resources to integrate them into their care. The objective of this article is to give a clinical overview of mind–body interventions and their applications in neurology. Methods Medline and PsychInfo were searched on mind–body therapies and neurologic disease search terms for clinical trials and reviews and published evidence was graded. Results Meditation, relaxation, and breathing techniques, yoga, tai chi, and qigong, hypnosis, and biofeedback are described. Mind–body therapy application to general pain, back and neck pain, carpal tunnel syndrome, headaches, fibromyalgia, multiple sclerosis, epilepsy, muscular dysfunction, stroke, aging, Parkinson disease, stroke, and attention deficit–hyperactivity disorder are reviewed. Conclusions There are several conditions where the evidence for mind–body therapies is quite strong such as migraine headache. Mind–body therapies for other neurology applications have limited evidence due mostly to small clinical trials and inadequate control groups. PMID:18541886

Corneal endothelial dysfunction in Pearson syndrome.

PubMed

Kasbekar, Shivani A; Gonzalez-Martin, Jose A; Shafiq, Ayad E; Chandna, Arvind; Willoughby, Colin E

2013-01-01

Mitochondrial disorders are associated with well recognized ocular manifestations. Pearson syndrome is an often fatal, multisystem, mitochondrial disorder that causes variable bone marrow, hepatic, renal and pancreatic exocrine dysfunction. Phenotypic progression of ocular disease in a 12-year-old male with Pearson syndrome is described. This case illustrates phenotypic drift from Pearson syndrome to Kearns-Sayre syndrome given the patient's longevity. Persistent corneal endothelial failure was noted in addition to ptosis, chronic external ophthalmoplegia and mid-peripheral pigmentary retinopathy. We propose that corneal edema resulting from corneal endothelial metabolic pump failure occurs within a spectrum of mitochondrial disorders.

[Nonspecific symptoms of pain syndromes of cervicobrachial localization and their dynamics under the influence of non - pharmacological treatment].

PubMed

Ярошевський, Олександр Анатолійович

2016-01-01

The relevance of this study is caused by the wide spread of musculoskeletal pain, particularly among young people of working age and lack of effectiveness of drug treatment. To study the capability of non-pharmacological treatment in patients with myofascial pain syndrome of cervicobrachial localization considering the influence to nonspecific symptoms of myofascial pain syndrome (autonomic dysfunctions and emotional disorders). We studied 115 patients aged from 18 to 44 years with myofascial pain syndrome of cervicobrachial localization. We used neurological, vertebral- neurological, neuropsychological examination. The severity of pain was assessed by the Visual analog scale for pain (VAS pain). Patients were divided into two groups. The first group of patients (59 individuals) received the complex of manual therapy. The second group of patients (56 individuals) received the complex of manual therapy combined with acupuncture. Non-pharmacological treatment was effective in patients with myofascial pain syndrome of cervicobrachial localization. Application of manual therapy methods in the treatment of myofascial pain syndrome of cervicobrachial localization leading to the reduction of severity of pain, emotional disorders and autonomic dysfunctions. The combination of manual therapy with acupuncture increases the effectiveness of treatment of myofascial pain syndrome of cervicobrachial localization by reducing the emotional disorders and autonomic dysfunctions. Patients with myofascial pain syndrome of cervicobrachial localization need the complex of manual therapy combined with acupuncture. The manual therapy corrects abnormal biomechanical pattern while acupuncture corrects autonomic dysfunctions and emotional disorders.

Diastolic dysfunction characterizes cirrhotic cardiomyopathy

PubMed Central

Somani, Piyush O.; contractor, Qais; Chaurasia, Ajay S.; Rathi, Pravin M.

2014-01-01

Aim Present study aims to study the occurrence of cirrhotic cardiomyopathy and its correlation to hepatorenal syndrome by assessing the cardiac status in patients with cirrhosis of liver and healthy controls. Methods Thirty alcoholic cirrhotic, thirty non-alcoholic cirrhotic and thirty controls were enrolled for the study. Cardiac parameters were assessed by color doppler echocardiography. Patients were followed up for twelve months period for development of hepatorenal syndrome. Results Mild diastolic dysfunction was present in 18 cirrhotic patients (30%): grade I in fifteen patients and grade II in three. Diastolic dysfunction was unrelated to age; sex and etiology of cirrhosis. Among all the echocardiographic parameters, only deceleration time was found to be statistically significant. Echocardiographic parameters in systolic and diastolic function were not different in compensated vs decompensated patients in different Child-Pugh classes or cirrhosis aetiologies. At one year follow-up, no significant differences were found in survival between patients with or without diastolic dysfunction. Hepatorenal syndrome developed in only two patients and its correlation with diastolic dysfunction was not statistically significant. Conclusions Present study shows that although diastolic dysfunction is a frequent event in cirrhosis, it is usually of mild degree and does not correlate with severity of liver dysfunction. There are no significant differences in echocardiographic parameters between alcoholic and non-alcoholic cirrhosis. HRS is not correlated to diastolic dysfunction in cirrhotic patients. There is no difference in survival at one year between patients with or without diastolic dysfunction. Diastolic dysfunction in cirrhosis is unrelated to circulatory dysfunction, ascites and HRS. PMID:25634400

Ovarian and adipose tissue dysfunction in polycystic ovary syndrome: report of the 4th special scientific meeting of the Androgen Excess and PCOS Society.

PubMed

Yildiz, Bulent O; Azziz, Ricardo

2010-07-01

Significant advances have been made in our understanding of ovarian dysfunction in polycystic ovary syndrome (PCOS), and alterations in adipose tissue function are likely to play an important role in its pathophysiology. This review highlights the principal novel concepts presented at the 4th special scientific meeting of the Androgen Excess and PCOS Society, "Ovarian and Adipose Tissue Dysfunction: Potential Roles in Polycystic Ovary Syndrome," which occurred on June 6, 2008 in San Francisco, California. Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Oesophageal dysfunction in patients with primary Sjögren's syndrome.

PubMed Central

Tsianos, E B; Chiras, C D; Drosos, A A; Moutsopoulos, H M

1985-01-01

Oesophageal motility was studied in 22 patients with primary Sjögren's syndrome and 20 normal volunteers. Oesophageal dysfunction was detected in eight of the 22 patients (36.4%) with primary Sjögren's syndrome. No abnormalities were detected in the normal subjects. Individual analysis of the oesophageal motility studies showed different patterns of oesophageal dysfunction; aperistalsis (three patients), triphasic tertiary contractions (two patients), frequent non-peristaltic contractions (two patients), and low contractions (one patient). These oesophageal abnormalities did not correlate with the parotid flow rate, the degree of inflammatory infiltrate of the minor salivary glands, the extraglandular manifestations, or the presence of autoantibodies. Images PMID:4037887

A cross-syndrome evaluation of a new attention rating scale: The Scale of Attention in Intellectual Disability.

PubMed

Freeman, Nerelie C; Gray, Kylie M; Taffe, John R; Cornish, Kim M

2016-10-01

Whilst neuropsychological research has enhanced our understanding of inattentive and hyperactive behaviours among children with intellectual disability (ID), the absence of rating scales developed for this group continues to be a gap in knowledge. This study examined these behaviours in 176 children with autism spectrum disorder (ASD), Down Syndrome (DS), or idiopathic ID using a newly developed teacher rating scale, the Scale of Attention in Intellectual Disability. Findings suggested that children with ASD had a significantly greater breadth of hyperactive/impulsive behaviours than those with DS or idiopathic ID. These findings support existing research suggesting differing profiles of attention and activity across groups. Understanding disorder-specific profiles has implications for developing strategies to support students with ID in the classroom. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Occupational Transition Process to Upper Secondary School, Further Education and/or Work in Sweden: As Described by Young Adults with Asperger Syndrome and Attention Deficit Hyperactivity Disorder.

PubMed

Baric, Vedrana Bolic; Hemmingsson, Helena; Hellberg, Kristina; Kjellberg, Anette

2017-03-01

The aim was to describe the occupational transition process to upper secondary school, further education and/or work, and to discover what support influences the process from the perspectives of young adults with Asperger syndrome or attention deficit/hyperactivity disorder. This qualitative study was performed in Sweden and comprised interviews with 15 young adults recruited from community based day centres. Support influencing the process included: occupational transition preparation in compulsory school, practical work experience in a safe environment, and support beyond the workplace. The overall understanding shows that the occupational transition process was a longitudinal one starting as early as in middle school, and continuing until the young adults obtained and were able to remain in employment or further education.

Review of the relationship of restless legs syndrome and periodic limb movements in sleep to hypertension, heart disease, and stroke.

PubMed

Walters, Arthur S; Rye, David B

2009-05-01

Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperactivity associated with RLS/PLMS may lead to daytime hypertension that in turn leads to heart disease and stroke; (b) in the absence of daytime hypertension, this sympathetic hyperactivity may predispose to heart disease and stroke either directly or indirectly via atherosclerotic plaque formation and rupture; and (c) comorbidities associated with RLS/PLMS, such as renal failure, diabetes, iron deficiency, and insomnia, may predispose to heart disease and stroke. One theoretical cause for sympathetic hyperactivity is insufficient All diencephalospinal dopaminergic neuron inhibition of sympathetic preganglionic neurons residing in the intermediolateral cell columns of the spinal cord. We cannot exclude the possibility that peripheral vascular, cardiovascular, and cerebrovascular disease may also contribute to RLS/PLMS, and mechanisms for these possibilities are also discussed.

Feeding and Swallowing Dysfunction in Genetic Syndromes

ERIC Educational Resources Information Center

Cooper-Brown, Linda; Copeland, Sara; Dailey, Scott; Downey, Debora; Petersen, Mario Cesar; Stimson, Cheryl; Van Dyke, Don C.

2008-01-01

Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant, negative, or even painful because of choking, coughing,…

Hyperactivity and Learning Deficits in Transgenic Mice Bearing a Human Mutant Thyroid Hormone β1 Receptor Gene

PubMed Central

McDonald, Michael P.; Wong, Rosemary; Goldstein, Gregory; Weintraub, Bruce; Cheng, Sheue-yann; Crawley, Jacqueline N.

1998-01-01

Resistance to thyroid hormone (RTH) is a human syndrome mapped to the thyroid receptor β (TRβ) gene on chromosome 3, representing a mutation of the ligandbinding domain of the TRβ gene. The syndrome is characterized by reduced tissue responsiveness to thyroid hormone and elevated serum levels of thyroid hormones. A common behavioral phenotype associated with RTH is attention deficit hyperactivity disorder (ADHD). To test the hypothesis that RTH produces attention deficits and/or hyperactivity, transgenic mice expressing a mutant TRβ gene were generated. The present experiment tested RTH transgenic mice from the PV kindred on behavioral tasks relevant to the primary features of ADHD: hyperactivity, sustained attention (vigilance), learning, and impulsivity. Male transgenic mice showed elevated locomotor activity in an open field compared to male wild-type littermate controls. Both male and female transgenic mice exhibited impaired learning of an autoshaping task, compared to wild-type controls. On a vigilance task in an operant chamber, there were no differences between transgenics and controls on the proportion of hits, response latency, or duration of stimulus tolerated. On an operant go/no-go task measuring sustained attention and impulsivity, there were no differences between controls and transgenics. These results indicate that transgenic mice bearing a mutant human TRβ gene demonstrate several behavioral characteristics of ADHD and may serve a valuable heuristic role in elucidating possible candidate genes in converging pathways for other causes of ADHD. PMID:10454355

Hyperactivity and learning deficits in transgenic mice bearing a human mutant thyroid hormone beta1 receptor gene.

PubMed

McDonald, M P; Wong, R; Goldstein, G; Weintraub, B; Cheng, S Y; Crawley, J N

1998-01-01

Resistance to thyroid hormone (RTH) is a human syndrome mapped to the thyroid receptor beta (TRbeta) gene on chromosome 3, representing a mutation of the ligand-binding domain of the TRbeta gene. The syndrome is characterized by reduced tissue responsiveness to thyroid hormone and elevated serum levels of thyroid hormones. A common behavioral phenotype associated with RTH is attention deficit hyperactivity disorder (ADHD). To test the hypothesis that RTH produces attention deficits and/or hyperactivity, transgenic mice expressing a mutant TRbeta gene were generated. The present experiment tested RTH transgenic mice from the PV kindred on behavioral tasks relevant to the primary features of ADHD: hyperactivity, sustained attention (vigilance), learning, and impulsivity. Male transgenic mice showed elevated locomotor activity in an open field compared to male wild-type littermate controls. Both male and female transgenic mice exhibited impaired learning of an autoshaping task, compared to wild-type controls. On a vigilance task in an operant chamber, there were no differences between transgenics and controls on the proportion of hits, response latency, or duration of stimulus tolerated. On an operant go/no-go task measuring sustained attention and impulsivity, there were no differences between controls and transgenics. These results indicate that transgenic mice bearing a mutant human TRbeta gene demonstrate several behavioral characteristics of ADHD and may serve a valuable heuristic role in elucidating possible candidate genes in converging pathways for other causes of ADHD.

Symptoms of Attention-Deficit/Hyperactivity Disorder in Down Syndrome: Effects of the Dopamine Receptor D4 Gene

ERIC Educational Resources Information Center

Mason, Gina Marie; Spanó, Goffredina; Edgin, Jamie

2015-01-01

This study examined individual differences in ADHD symptoms and executive function (EF) in children with Down syndrome (DS) in relation to the dopamine receptor D4 (DRD4) gene, a gene often linked to ADHD in people without DS. Participants included 68 individuals with DS (7-21 years), assessed through laboratory tasks, caregiver reports, and…

Relationship between Parenting Stress and Ratings of Executive Functioning in Children with ADHD

ERIC Educational Resources Information Center

Joyner, Krystle B.; Silver, Cheryl H.; Stavinoha, Peter L.

2009-01-01

Executive functioning is important to assess in children with attention deficit/hyperactivity disorder (ADHD). Parent report is used to obtain information about a child's executive functioning; however, parent report can be influenced by many factors. This study's hypothesis was that higher ratings of children's executive dysfunction are…

Handwriting Deficits in Children with Minimal Brain Dysfunction: Effects of Methylphenidate (Ritalin) and Placebo.

ERIC Educational Resources Information Center

Lerer, Robert J.; And Others

1979-01-01

Fifty hyperactive and learning disabled children (8 to 12 years old) were selected for study because of severe handwriting difficulties. The children received methylphenidate (Ritalin) or placebo under double blind conditions. Twenty-six students (52 percent) showed improvement in overall handwriting following the administration of methylphenidate…

(Un)becoming Dysfunctional: ADHD and How Matter Comes to Matter

ERIC Educational Resources Information Center

Nilsson Sjöberg, Mattias

2017-01-01

Various neuropsychiatric disorders are a common feature today, not least in educational contexts where Attention Deficit Hyperactivity Disorder (ADHD) is a common diagnosis. The dominant perspective regarding ADHD is biomedical. This perspective has been questioned and challenged in various ways. The aim of this article is to think ADHD through…

Executive Functioning Characteristics Associated with ADHD Comorbidity in Adolescents with Disruptive Behavior Disorders

ERIC Educational Resources Information Center

Hummer, Tom A.; Kronenberger, William G.; Wang, Yang; Dunn, David W.; Mosier, Kristine M.; Kalnin, Andrew J.; Mathews, Vincent P.

2011-01-01

The nature of executive dysfunction in youth with disruptive behavior disorders (DBD) remains unclear, despite extensive research in samples of children with attention-deficit hyperactivity disorder (ADHD). To determine the relationship between DBD, ADHD, and executive function deficits in aggressive teens, adolescents with DBD and comorbid ADHD…

Attention deficit/hyperactivity-disorder and obesity: A review and model of current hypotheses explaining their comorbidity.

PubMed

Hanć, Tomasz; Cortese, Samuele

2018-05-19

Available meta-analyses point to a significant association between attention-deficit/hyperactivity disorder (ADHD) and obesity. The possible mechanisms underlying this relationship are unclear. Here, we overview the studies aimed at identifying the factors contributing to the comorbidity between ADHD and obesity, including genetic factors, fetal programming, executive dysfunctions, psychosocial stress, factors directly related to energy balance, and sleep patterns alterations. The bulk of current research has focused on reduced physical activity and abnormal eating patterns as possible causes of weight gain in individuals with ADHD. Further research is needed to explore the specific role of executive dysfunctions. None of the available published studies have evaluated physiological mechanisms such as hormonal and metabolic disorders or inappropriate neurobiological regulation of appetite. Research exploring the genetic basis for the coexistence of ADHD and obesity and epigenetic mechanisms, with particular emphasis on stress, both pre- and postnatal, seems particularly promising. Here, we propose a biopsychosocial model to integrate current findings and move the field forward to gain insight into the ADHD-obesity relationship. Copyright © 2018 Elsevier Ltd. All rights reserved.

Myxedema coma in a patient with Down's syndrome.

PubMed

Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

2006-11-01

hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

PubMed

Runde, Joseph; Rivera-Rivera, Edgardo; Pompeii-Wolfe, Cecelia; Clardy, Christopher; Sentongo, Timothy

2018-05-10

Refeeding syndrome is diagnosed based on the onset of multiple laboratory abnormalities (most commonly hypophosphatemia) and clinical signs in the setting of nutrition rehabilitation of malnourished patients. Because definitions are not uniform, a broad differential diagnosis should always include renal tubular dysfunction. Our report details a 3 year-old child with undiagnosed renal tubular dysfunction who presented with the clinical picture of refeeding syndrome with refractory electrolyte abnormalities. A diagnosis of renal Fanconi syndrome was made after urinalysis that revealed glucosuria and urine electrolyte losses. Thus, urinalysis can aid in making a positive diagnosis of refeeding syndrome. © 2018 American Society for Parenteral and Enteral Nutrition.

Glutamatergic modulation of hyperactivity in mice lacking the dopamine transporter

PubMed Central

Gainetdinov, Raul R.; Mohn, Amy R.; Bohn, Laura M.; Caron, Marc G.

2001-01-01

In the brain, dopamine exerts an important modulatory influence over behaviors such as emotion, cognition, and affect as well as mechanisms of reward and the control of locomotion. The dopamine transporter (DAT), which reuptakes the released neurotransmitter into presynaptic terminals, is a major determinant of the intensity and duration of the dopaminergic signal. Knockout mice lacking the dopamine transporter (DAT-KO mice) display marked changes in dopamine homeostasis that result in elevated dopaminergic tone and pronounced locomotor hyperactivity. A feature of DAT-KO mice is that their hyperactivity can be inhibited by psychostimulants and serotonergic drugs. The pharmacological effect of these drugs occurs without any observable changes in dopaminergic parameters, suggesting that other neurotransmitter systems in addition to dopamine might contribute to the control of locomotion in these mice. We report here that the hyperactivity of DAT-KO mice can be markedly further enhanced when N-methyl-d-aspartate receptor-mediated glutamatergic transmission is blocked. Conversely, drugs that enhance glutamatergic transmission, such as positive modulators of l-α-amino-3-hydroxy-5-methylisoxazole-4-propionate glutamate receptors, suppress the hyperactivity of DAT-KO mice. Interestingly, blockade of N- methyl-d-aspartate receptors prevented the inhibitory effects of both psychostimulant and serotonergic drugs on hyperactivity. These findings support the concept of a reciprocal functional interaction between dopamine and glutamate in the basal ganglia and suggest that agents modulating glutamatergic transmission may represent an approach to manage conditions associated with dopaminergic dysfunction. PMID:11572967

Childhood symptoms of inattention-hyperactivity predict cannabis use in first episode psychosis.

PubMed

Cassidy, Clifford M; Joober, Ridha; King, Suzanne; Malla, Ashok K

2011-11-01

A history of childhood symptoms of inattention-hyperactivity is often reported in first episode psychosis (FEP) as is cannabis use. In the general population childhood ADHD predicts future cannabis use but the relationship has not been tested in FEP. Parents of patients with a first episode of psychosis (n=75) retrospectively assessed their affected child for symptoms of early-life disorders, namely, attention deficit hyperactivity disorder (ADHD), conduct disorder (CD) and oppositional defiant disorder (ODD) using the Child Behaviour Checklist (CBCL). Assessments were made prospectively of cannabis use over two years following a FEP and of SCID diagnosis of cannabis-use disorder. Childhood hyperactivity-inattention symptoms predicted inability to maintain abstinence from cannabis following treatment (Wald=8.4, p=.004) and lifetime cannabis-use diagnosis (Wald=5.3, p=.022) in a logistic regression controlling for relevant covariates including symptoms of CD and ODD from ages 12 to 18. When the symptom of inattention was considered in place of the hyperactivity-inattention syndrome it predicted cannabis-use diagnosis (Wald=6.4, p=.011) and persistent abstinence from cannabis (Wald=5.3, p=.021). Symptoms of CD and ODD did not predict cannabis use when hyperactivity-inattention symptoms were controlled for. Symptoms of childhood inattention-hyperactivity predict subsequent cannabis use in FEP. Copyright © 2011 Elsevier B.V. All rights reserved.

Acquired Bartter syndrome following gentamicin therapy

PubMed Central

Singh, J.; Patel, M. L.; Gupta, K. K.; Pandey, S.; Dinkar, A.

2016-01-01

Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7th day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management. PMID:27942182

Acquired Bartter syndrome following gentamicin therapy.

PubMed

Singh, J; Patel, M L; Gupta, K K; Pandey, S; Dinkar, A

2016-01-01

Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7 th day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management.

Aniracetam: its novel therapeutic potential in cerebral dysfunctional disorders based on recent pharmacological discoveries.

PubMed

Nakamura, Kazuo

2002-01-01

Aniracetam is a pyrrolidinone-type cognition enhancer that has been clinically used in the treatment of behavioral and psychological symptoms of dementia following stroke and in Alzheimer's disease. New discoveries in the behavioral pharmacology, biochemistry and pharmacokinetics of aniracetam provided new indications for this drug in the treatment of various CNS disorders or disease states. This article reviews these new findings and describes the effects of aniracetam in various rodent models of mental function impairment or cerebral dysfunction. Also, several metabolites of aniracetam have been reported to affect learning and memory in animals. It is, therefore, conceivable that major metabolites of aniracetam contribute to its pharmacological effects. The animal models, used in pharmacological evaluation of aniracetam included models of hypoattention, hypovigilance-arousal, impulsiveness, hyperactivity, fear and anxiety, depression, impaired rapid-eye movement sleep, disturbed temporal regulation, behavioral performance, and bladder hyperactivity. These are models of clinical disorders or symptoms that may include personality disorders, anxiety, depression, posttraumatic stress disorder, attention-deficit/hyperactivity disorder, autism, negative symptoms of schizophrenia, and sleep disorders. At present, there is no convincing evidence that promising effects of aniracetam in the animal models will guarantee its clinical efficacy. It is conceivable, however, that clinical trials will demonstrate beneficial effects of aniracetam in the above listed disease states. New findings regarding the mechanism of action of aniracetam, its central target sites, and its effects on signal transduction are also discussed in this review article.

Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals

ClinicalTrials.gov

2018-05-04

Obsessive Compulsive Disorder; Body Dysmorphic Disorder; Tourette Syndrome; Trichotillomania; Panic Disorder; Social Phobia; Generalized Anxiety Disorder; Depression; Post-Traumatic Stress Disorder; Attention Deficit Hyperactivity Disorder; Eating Disorder; Specific Phobia; General Medical Condition

Effects of distractors on upright balance performance in school-aged children with attention deficit hyperactivity disorder, preliminary study.

PubMed

Aydinli, Fatma Esen; Çak, Tuna; Kirazli, Meltem Çiğdem; Çinar, Betül Çiçek; Pektaş, Alev; Çengel, Ebru Kültür; Aksoy, Songül

Attention deficit hyperactivity disorder is a common impairing neuropsychiatric disorder with onset in early childhood. Almost half of the children with attention deficit hyperactivity disorder also experience a variety of motor-related dysfunctions ranging from fine/gross motor control problems to difficulties in maintaining balance. The main purpose of this study was to investigate the effects of distractors two different auditory distractors namely, relaxing music and white noise on upright balance performance in children with attention deficit hyperactivity disorder. We compared upright balance performance and the involvement of different sensory systems in the presence of auditory distractors between school-aged children with attention deficit hyperactivity disorder (n=26) and typically developing controls (n=20). Neurocom SMART Balance Master Dynamic Posturography device was used for the sensory organization test. Sensory organization test was repeated three times for each participant in three different test environments. The balance scores in the silence environment were lower in the attention deficit hyperactivity disorder group but the differences were not statistically significant. In addition to lower balance scores the visual and vestibular ratios were also lower. Auditory distractors affected the general balance performance positively for both groups. More challenging conditions, using an unstable platform with distorted somatosensory signals were more affected. Relaxing music was more effective in the control group, and white noise was more effective in the attention deficit hyperactivity disorder group and the positive effects of white noise became more apparent in challenging conditions. To the best of our knowledge, this is the first study evaluating balance performance in children with attention deficit hyperactivity disorder under the effects of auditory distractors. Although more studies are needed, our results indicate that auditory distractors may have enhancing effects on upright balance performance in children with attention deficit hyperactivity disorder. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Latent profile analysis of neuropsychological measures to determine preschoolers' risk for ADHD

PubMed Central

Rajendran, Khushmand; O'Neill, Sarah; Marks, David J.; Halperin, Jeffrey M.

2015-01-01

Background Hyperactive/Inattentive preschool children show clear evidence of neuropsychological dysfunction. We examined whether patterns and severity of test scores could reliably identify subgroups of preschoolers with differential risk for ADHD during school-age. Method Typically-developing (TD: n=76) and Hyperactive/Inattentive (HI: n=138) 3-4 year-olds were assessed annually for 6 years (T1-T6). Latent profile analysis (LPA) was used to form subgroups among the HI group based on objective/neuropsychological measures (NEPSY, Actigraph and Continuous Performance Test). Logistic regression assessed the predictive validity of empirically-formed subgroups for risk for ADHD diagnosis relative to the TD group and to each other from T2-T6. Results LPA yielded 2 subgroups of HI preschoolers: 1) selectively weak Attention/Executive functions and 2) pervasive neuropsychological dysfunction across all measures. Both subgroups were more likely to have ADHD at all follow-up time-points relative to the TD group (OR range: 11.29-86.32), but there were no significant differences between the LPA-formed subgroups of HI children at any time-point. Conclusions Objective/neuropsychological measures distinguish HI preschoolers from their TD peers, but patterns and severity of neuropsychological dysfunction do not predict risk for ADHD during school-age. We hypothesize that trajectories in at-risk children are influenced by subsequent environmental and neurodevelopmental factors, raising the possibility that they are amenable to early intervention. PMID:26053870

Frontal brain asymmetry in adult attention-deficit/hyperactivity disorder (ADHD): extending the motivational dysfunction hypothesis.

PubMed

Keune, Philipp M; Wiedemann, Eva; Schneidt, Alexander; Schönenberg, Michael

2015-04-01

Attention-deficit/hyperactivity disorder (ADHD) involves motivational dysfunction, characterized by excessive behavioral approach tendencies. Frontal brain asymmetry in the alpha band (8-13 Hz) in resting-state electroencephalogram (EEG) represents a neural correlate of global motivational tendencies, and abnormal asymmetry, indicating elevated approach motivation, was observed in pediatric and adult patients. To date, the relation between ADHD symptoms, depression and alpha asymmetry, its temporal metric properties and putative gender-specificity remain to be explored. Adult ADHD patients (n=52) participated in two resting-state EEG recordings, two weeks apart. Asymmetry measures were aggregated across recordings to increase trait specificity. Putative region-specific associations between asymmetry, ADHD symptoms and depression, its gender-specificity and test-retest reliability were examined. ADHD symptoms were associated with approach-related asymmetry (stronger relative right-frontal alpha power). Approach-related asymmetry was pronounced in females, and also associated with depression. The latter association was mediated by ADHD symptoms. Test-retest reliability was sufficient. The association between reliably assessable alpha asymmetry and ADHD symptoms supports the motivational dysfunction hypothesis. ADHD symptoms mediating an atypical association between asymmetry and depression may be attributed to depression arising secondary to ADHD. Gender-specific findings require replication. Frontal alpha asymmetry may represent a new reliable marker of ADHD symptoms. Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Neural dysfunction during temporal discounting in paediatric Attention-Deficit/Hyperactivity Disorder and Obsessive-Compulsive Disorder.

PubMed

Norman, Luke J; Carlisi, Christina O; Christakou, Anastasia; Chantiluke, Kaylita; Murphy, Clodagh; Simmons, Andrew; Giampietro, Vincent; Brammer, Michael; Mataix-Cols, David; Rubia, Katya

2017-11-30

Both Attention-Deficit/Hyperactivity Disorder (ADHD) and Obsessive-Compulsive Disorder (OCD) are associated with choice impulsivity, i.e. the tendency to prefer smaller immediate rewards over larger delayed rewards. However, the extent to which this impulsivity is mediated by shared or distinct underlying neural mechanisms is unclear. Twenty-six boys with ADHD, 20 boys with OCD and 20 matched controls (aged 12-18) completed an fMRI version of an individually adjusted temporal discounting (TD) task which requires choosing between a variable amount of money now or £100 in one week, one month or one year. Activations to immediate and delayed reward choices were compared between groups using a three-way ANCOVA. ADHD patients had steeper discounting rates on the task relative to controls. OCD patients did not differ from controls or patients with ADHD. Patients with ADHD and OCD showed predominantly shared activation deficits during TD in fronto-striato-insular-cerebellar regions responsible for self-control and temporal foresight, suggesting that choice impulsivity is mediated by overlapping neural dysfunctions in both disorders. OCD patients alone showed dysfunction relative to controls in right orbitofrontal and rostrolateral prefrontal cortex, extending previous findings of abnormalities in these regions in OCD to the domain of choice impulsiveness. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

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

PubMed

Cho, Soo-Churl; Kim, Boong-Nyun; Kim, Jae-Won; Rohde, Luis Augusto; Hwang, Jun-Won; Chungh, Dong-Seon; Shin, Min-Sup; Lyoo, In Kyoon; Go, Bock-Ja; Lee, Sang-Eun; Kim, Hyo-Won

2009-07-01

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.

Interacting Neural Processes of Feeding, Hyperactivity, Stress, Reward, and the Utility of the Activity-Based Anorexia Model of Anorexia Nervosa

PubMed Central

Ross, Rachel A.; Mandelblat-Cerf, Yael; Verstegen, Anne M.J.

2017-01-01

Anorexia nervosa (AN) is a psychiatric illness with minimal effective treatments and a very high rate of mortality. Understanding the neurobiological underpinnings of the disease is imperative for improving outcomes and can be aided by the study of animal models. The activity-based anorexia rodent model (ABA) is the current best parallel for the study of AN. This review describes the basic neurobiology of feeding and hyperactivity seen in both ABA and AN, and compiles the research on the role that stress-response and reward pathways play in modulating the homeostatic drive to eat and to expend energy, which become dysfunctional in ABA and AN. PMID:27824637

Interacting Neural Processes of Feeding, Hyperactivity, Stress, Reward, and the Utility of the Activity-Based Anorexia Model of Anorexia Nervosa.

PubMed

Ross, Rachel A; Mandelblat-Cerf, Yael; Verstegen, Anne M J

Anorexia nervosa (AN) is a psychiatric illness with minimal effective treatments and a very high rate of mortality. Understanding the neurobiological underpinnings of the disease is imperative for improving outcomes and can be aided by the study of animal models. The activity-based anorexia rodent model (ABA) is the current best parallel for the study of AN. This review describes the basic neurobiology of feeding and hyperactivity seen in both ABA and AN, and compiles the research on the role that stress-response and reward pathways play in modulating the homeostatic drive to eat and to expend energy, which become dysfunctional in ABA and AN.

Nonpeptide corticotropin-releasing hormone receptor type 1 antagonists and their applications in psychosomatic disorders.

PubMed

Contoreggi, Carlo; Rice, Kenner C; Chrousos, George

2004-01-01

Overproduction of corticotropin-releasing hormone (CRH) and stress system abnormalities are seen in psychiatric diseases such as depression, anxiety, eating disorders, and addiction. Investigations of CRH type 1 receptor (CRHR1) nonpeptide antagonists suggest therapeutic potential for treatment of these and other neuropsychiatric diseases. However, overproduction of CRH in the brain and on its periphery and disruption of the hypothalamic-pituitary-adrenal axis are also found in 'somatic' disorders. Some rare forms of Cushing's disease and related pituitary/adrenal disorders are obvious applications for CRHR1 antagonists. In addition, however, these antagonists may also be effective in treating more common somatic diseases. Patients with obesity and metabolic syndrome who often have subtle, but chronic hypothalamic-pituitary-adrenal hyperactivity, which may reflect central dysregulation of CRH and consequently glucocorticoid hypersecretion, could possibly be treated by administration of CRHR1 antagonists. Hormonal, autonomic, and immune aberrations are also present in chronic inflammatory, autoimmune, and allergic diseases, with considerable evidence linking CRH with the observed abnormalities. Furthermore, autonomic dysregulation is a prominent feature of common gastrointestinal disorders, such as irritable bowel syndrome and peptic ulcer disease. Patients with irritable bowel syndrome and other gastrointestinal disorders frequently develop altered pain perception and affective symptoms. CRH acts peripherally to modulate bowel activity both directly through the autonomic system and centrally by processing viscerosensory and visceromotor neural signals. This review presents clinical and preclinical evidence for the role of CRH in the pathophysiology of these disorders and for potential diagnostic and therapeutic applications of CRHR1 antagonists. Recognition of a dysfunctional stress system in these and other diseases will alter the understanding and treatment of 'psychosomatic' disorders.

Magnetic resonance imaging correlates of bee sting induced multiple organ dysfunction syndrome: A case report.

PubMed

Das, Sushant K; Zeng, Li-Chuan; Li, Bing; Niu, Xiang-Ke; Wang, Jing-Liang; Bhetuwal, Anup; Yang, Han-Feng

2014-09-28

Occasionally systemic complications with high risk of death, such as multiple organ dysfunction syndrome (MODS), can occur following multiple bee stings. This case study reports a patient who presented with MODS, i.e., acute kidney injury, hepatic and cardiac dysfunction, after multiple bee stings. The standard clinical findings were then correlated with magnetic resonance imaging (MRI) findings, which demonstrates that MRI may be utilized as a simpler tool to use than other multiple diagnostics.

Genetics Home Reference: 22q11.2 deletion syndrome

MedlinePlus

... hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorders that affect communication and social interaction. ... J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders and symptoms in children with molecularly ...

PubMed Central

Combaz-Söhnchen, Nina; Kuhn, Annette

2017-01-01

Mycoplasma species relevant to the urogenital tract include mycoplasma hominis, mycoplasma genitalia and ureaplasma urealyticum. Their occurrence in the context of urogynaecological disease has been demonstrated in urethritis, cystitis and upper renal tract infections. Their role in hyperactive bladder and interstitial cystitis/painful bladder syndrome is controversial. All the above-mentioned microorganisms can occur as commensals or as potential pathogens. In most cases their role in any particular pathology cannot be proven, only presumed. The aim of this systematic review was to summarise current knowledge on the influence of mycoplasma and ureaplasma in urogynaecological pathology and to provide clinical guidance on diagnosis (when and how is pathogen detection indicated?) and treatment. 377 relevant articles were analysed. In summary: a urethral swab for PCR analysis of the three bacteria should be performed in the context of symptomatic sterile leukocyturia, chronic urethritis and suspected hyperactive bladder or interstitial cystitis/painful bladder syndrome. Symptomatic women should be treated strictly according to results of the antibiogram. PMID:29269957

RAAS inhibition and cardiorenal syndrome.

PubMed

Onuigbo, Macaulay Amechi C

2014-01-01

The consensus conference on cardio-renal syndromes (2008) defined 'cardio-renal syndromes' as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other' and identified five subtypes of the syndromes. Various pathophysiologic mechanisms underlie cardiorenal syndrome including hemodynamic derangements, reduced cardiac output leading to impaired renal perfusion, reduced stroke volume, raised atrial filling pressures, elevated atrial pressures, sodium and water retention, venous congestion, right ventricular dysfunction and venous hypertension causing increased renal venous pressure, intra-abdominal hypertension, various neurohormonal adaptations including activation of the renin-angiotensin-aldosterone system, adaptive activation of the sympathetic nervous system, cytokine release and oxidative stress. Although there are standardized clinical guidelines for the management of heart failure, and chronic kidney disease, respectively, there are no similar consensus clinical guidelines for the management of the cardiorenal syndromes. RAAS inhibition is advocated in treating systolic heart failure. There is evidence that RAAS inhibition is also useful in cardiorenal syndrome. However, RAAS inhibition, while potentially useful in the management of cardiorenal syndrome, is not the 'magic bullet', is sometimes limited by adverse renal events, is not applicable to all patients, and must be applied by physicians with due diligence and caution. Nevertheless, a more comprehensive multidisciplinary multipronged approach to managing patients with cardiorenal syndrome is even more pragmatic and commonsense given the multiple mechanisms and pathogenetic pathways implicated in the causation and perpetuation of cardiorenal syndrome.

The Compensatory ADHD Behaviors Scale (CABS): Development and Initial Validation.

PubMed

Castagna, Peter J; Roye, Scott; Calamia, Matthew

2018-05-01

Several measures are available that assess inattention, hyperactivity/impulsivity, and executive functioning deficits. Treatments for adults with attention-deficit/hyperactivity disorder (ADHD) and skill-based academic interventions focus on improving compensatory strategies to ameliorate functional impairment; however, no measure exists that examines the compensatory behaviors adults utilize to compensate for the functional deficits associated with inattention and hyperactivity/impulsivity. The current study aimed to determine the psychometric properties of the Compensatory ADHD Behaviors Scale (CABS). Five-hundred participants ( M age = 36.83, SD = 11.57) completed measures of ADHD symptomatology, executive functioning, functional impairment, mood disorder symptoms, and the CABS. Analyses revealed that scales assessing both use and effectiveness of compensatory behaviors subscales had similar factor structures, reflecting present- and future-oriented behaviors. The present-, but not future-oriented, behaviors significantly related to ADHD symptomatology, executive dysfunction, and functional impairment; effectiveness of present-oriented compensatory behaviors demonstrated incremental validity in predicting impairment. Compensatory strategies may be a useful variable to measure when examining functional impairment associated with inattention and hyperactivity/impulsivity. The current study provides preliminary evidence of the ability of CABS to validly measure various strategies associated with (clinical and subclinical) ADHD symptomatology, executive functioning, and overall impairment.

Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism.

PubMed

Shimohata, Atsushi; Ishihara, Keiichi; Hattori, Satoko; Miyamoto, Hiroyuki; Morishita, Hiromasa; Ornthanalai, Guy; Raveau, Matthieu; Ebrahim, Abdul Shukkur; Amano, Kenji; Yamada, Kazuyuki; Sago, Haruhiko; Akiba, Satoshi; Mataga, Nobuko; Murphy, Niall P; Miyakawa, Tsuyoshi; Yamakawa, Kazuhiro

2017-07-01

Ts1Cje mice have a segmental trisomy of chromosome 16 that is orthologous to human chromosome 21 and display Down syndrome-like cognitive impairments. Despite the occurrence of affective and emotional impairments in patients with Down syndrome, these parameters are poorly documented in Down syndrome mouse models, including Ts1Cje mice. Here, we conducted comprehensive behavioral analyses, including anxiety-, sociability-, and depression-related tasks, and biochemical analyses of monoamines and their metabolites in Ts1Cje mice. Ts1Cje mice showed enhanced locomotor activity in novel environments and increased social contact with unfamiliar partners when compared with wild-type littermates, but a significantly lower activity in familiar environments. Ts1Cje mice also exhibited some signs of decreased depression like-behavior. Furthermore, Ts1Cje mice showed monoamine abnormalities, including increased extracellular dopamine and serotonin, and enhanced catabolism in the striatum and ventral forebrain. This study constitutes the first report of deviated monoamine metabolism that may help explain the basis for abnormal behaviors, including the environmental stimuli-triggered hyperactivity, increased sociability and decreased depression-like behavior in Ts1Cje mice. Copyright © 2017 Elsevier Inc. All rights reserved.

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

PubMed

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Adipose tissue mitochondrial dysfunction triggers a lipodystrophic syndrome with insulin resistance, hepatosteatosis, and cardiovascular complications.

PubMed

Vernochet, Cecile; Damilano, Federico; Mourier, Arnaud; Bezy, Olivier; Mori, Marcelo A; Smyth, Graham; Rosenzweig, Anthony; Larsson, Nils-Göran; Kahn, C Ronald

2014-10-01

Mitochondrial dysfunction in adipose tissue occurs in obesity, type 2 diabetes, and some forms of lipodystrophy, but whether this dysfunction contributes to or is the result of these disorders is unknown. To investigate the physiological consequences of severe mitochondrial impairment in adipose tissue, we generated mice deficient in mitochondrial transcription factor A (TFAM) in adipocytes by using mice carrying adiponectin-Cre and TFAM floxed alleles. These adiponectin TFAM-knockout (adipo-TFAM-KO) mice had a 75-81% reduction in TFAM in the subcutaneous and intra-abdominal white adipose tissue (WAT) and interscapular brown adipose tissue (BAT), causing decreased expression and enzymatic activity of proteins in complexes I, III, and IV of the electron transport chain (ETC). This mitochondrial dysfunction led to adipocyte death and inflammation in WAT and a whitening of BAT. As a result, adipo-TFAM-KO mice were resistant to weight gain, but exhibited insulin resistance on both normal chow and high-fat diets. These lipodystrophic mice also developed hypertension, cardiac hypertrophy, and cardiac dysfunction. Thus, isolated mitochondrial dysfunction in adipose tissue can lead a syndrome of lipodystrophy with metabolic syndrome and cardiovascular complications. © FASEB.

Brain differences between persistent and remitted attention deficit hyperactivity disorder.

PubMed

Mattfeld, Aaron T; Gabrieli, John D E; Biederman, Joseph; Spencer, Thomas; Brown, Ariel; Kotte, Amelia; Kagan, Elana; Whitfield-Gabrieli, Susan

2014-09-01

Previous resting state studies examining the brain basis of attention deficit hyperactivity disorder have not distinguished between patients who persist versus those who remit from the diagnosis as adults. To characterize the neurobiological differences and similarities of persistence and remittance, we performed resting state functional magnetic resonance imaging in individuals who had been longitudinally and uniformly characterized as having or not having attention deficit hyperactivity disorder in childhood and again in adulthood (16 years after baseline assessment). Intrinsic functional brain organization was measured in patients who had a persistent diagnosis in childhood and adulthood (n = 13), in patients who met diagnosis in childhood but not in adulthood (n = 22), and in control participants who never had attention deficit hyperactivity disorder (n = 17). A positive functional correlation between posterior cingulate and medial prefrontal cortices, major components of the default-mode network, was reduced only in patients whose diagnosis persisted into adulthood. A negative functional correlation between medial and dorsolateral prefrontal cortices was reduced in both persistent and remitted patients. The neurobiological dissociation between the persistence and remittance of attention deficit hyperactivity disorder may provide a framework for the relation between the clinical diagnosis, which indicates the need for treatment, and additional deficits that are common, such as executive dysfunctions. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Cardio-renal syndromes: from foggy bottoms to sunny hills.

PubMed

Ronco, Claudio

2011-11-01

"Cardio-renal syndromes" (CRS) are disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The current definition has been expanded into five subtypes whose etymology reflects the primary and secondary pathology, the time-frame and simultaneous cardiac and renal co-dysfunction secondary to systemic disease: CRS type I: acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. CRS type II: chronic abnormalities in heart function (CHF-CHD) leading to kidney injury or dysfunction. CRS type III: acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. CRS type IV: chronic kidney disease (CKD) leading to heart injury, disease and/or dysfunction. CRS type V: systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. These different subtypes may have a different pathophysiological mechanism and they may represent separate entities in terms of prevention and therapy.

Identifying the Characteristics of Fetal Alcohol Spectrum Disorders (FASD) among Children with Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Someki, Fumio

2011-01-01

Fetal alcohol spectrum disorder (FASD), characterized by various levels of dysmorphia and behavioral and cognitive dysfunctions, is the result of prenatal alcohol exposure. FASD characteristics can be masked by many other conditions. As a result, early identification of FASD is often difficult, leading to a delay of children with FASD receiving…

Cauda equina syndrome: evaluation of the clinical outcome.

PubMed

Tamburrelli, F C; Genitiempo, M; Bochicchio, M; Donisi, L; Ratto, C

2014-01-01

Cauda equina syndrome is a rare but highly impairing syndrome involving lower limbs as well as urinary, defecatory and sexual function. In the literature the most investigated sphincter dysfunction is the urinary. Bowel and sexual function are often overlooked since they become more relevant after the acute phase. Eight consecutive male patients affected by cauda equina syndrome with sphincter dysfunction due to herniated disc disease of lumbar spine were treated between 2007 and 2009. Five patients were followed-up for at least two years. Sexual function was evaluated by IIEF-5 questionnaire; bowel function was investigated by means of clinical and instrumental investigation and manometry. Although little clinical improved, patients still complained severe symptoms at first year follow-up while all but one improved significantly in the following year. At two years follow-up only the patient whose cauda equina syndrome was misdiagnosed and surgically treated late respect to the onset of the syndrome, complained a persistent severe sexual and bowel dysfunction. Our results show that a long-term follow-up is mandatory to evaluate the real outcome of surgical managed cauda equine syndrome because short-term evaluation could be misleading about the residual capacity of late neurologic improving. Despite the relatively low number of cases evaluated, our results confirm that early diagnosing and treating the syndrome are relevant for the final outcome.

Total artificial heart implantation in a young Marfan syndrome patient.

PubMed

Rao, Prashant; Keenan, Jack B; Rajab, Taufiek K; Kim, Samuel; Smith, Richard; Amabile, Orazio; Khalpey, Zain

2018-03-01

Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. We implanted a total artificial heart with a good outcome. Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

X-Chromosome Effects on Attention Networks: Insights from Imaging Resting-State Networks in Turner Syndrome.

PubMed

Green, Tamar; Saggar, Manish; Ishak, Alexandra; Hong, David S; Reiss, Allan L

2017-07-18

Attention deficit hyperactivity disorder (ADHD) is strongly affected by sex, but sex chromosomes' effect on brain attention networks and cognition are difficult to examine in humans. This is due to significant etiologic heterogeneity among diagnosed individuals. In contrast, individuals with Turner syndrome (TS), who have substantially increased risk for ADHD symptoms, share a common genetic risk factor related to the absence of the X-chromosome, thus serving as a more homogeneous genetic model. Resting-state functional MRI was employed to examine differences in attention networks between girls with TS (n = 40) and age- sex- and Tanner-matched controls (n = 33). We compared groups on resting-state functional connectivity measures from data-driven independent components analysis (ICA) and hypothesis-based seed analysis. Using ICA, reduced connectivity was observed in both frontoparietal and dorsal attention networks. Similarly, using seeds in the bilateral intraparietal sulcus (IPS), reduced connectivity was observed between IPS and frontal and cerebellar regions. Finally, we observed a brain-behavior correlation between IPS-cerebellar connectivity and cognitive attention measures. These findings indicate that X-monosomy contributes affects to attention networks and cognitive dysfunction that might increase risk for ADHD. Our findings not only have clinical relevance for girls with TS, but might also serve as a biological marker in future research examining the effects of the intervention that targets attention skills. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.

PubMed

Zhou, Xiao; Liao, Yuangao; Xu, Miaojing; Ji, Zhong; Xu, Yunqi; Zhou, Liang; Wei, Xiaoming; Hu, Peiqian; Han, Peng; Yang, Fanghan; Pan, Suyue; Hu, Yafang

2017-10-10

Mutations in Methyl-CpG binding protein 2 ( MECP2 ) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either. The clinical and radiological features of a girl with progressive hyperactivity and loss of acquired linguistic and motor functions were presented. Next generation sequencing was used to screen the causative gene. Effect of the mutant protein on histone 3 methylation was assessed in vitro experiment. The patient was diagnosed with an atypical RTT at the age of nine. Magnetic resonance imaging revealed a loss of whole-brain volume and abnormal myelination. Genetic analysis identified a de novo novel missense mutation of MECP2 (NM_004992, c.570G->A, p.Arg190His). This mutation is located in the AT-hook 1 domain of MeCP2 protein. Overexpression of the mutant MeCP2 in cultured neuroblastoma cells SH-SY5Y revealed increased level of dimethylated histone 3 lysine 9, a transcriptional repressor marker. A novel missense mutation in AT-hook 1 domain of MeCP2 was identified in a patient with atypical RTT. Clinical data and in vitro experiment result imply that R190H mutation in AT-hook1 may cause dysfunction of MeCP2 and be a pathogenic variant.

Acute motor-sensory axonal neuropathy with hyperreflexia in Guillain-Barré syndrome.

PubMed

Tosun, Ayşe; Dursun, Şiar; Akyildiz, Utku Ogan; Oktay, Seçil; Tataroğlu, Cengiz

2015-04-01

Guillain-Barré syndrome is an acute inflammatory autoimmune polyradiculoneuritis. Progressive motor weakness and areflexia are essential for its diagnosis. Hyperreflexia has rarely been reported in the early healing period of Guillain-Barré syndrome following Campylobacter jejuni infection in patients with acute motor axonal neuropathy with antiganglioside antibody positivity. In this study, we report a 12-year-old girl presenting with complaints of inability to walk, numbness in hands and feet, and hyperactive deep tendon reflexes since the onset of the clinical picture, diagnosed with acute motor-sensory axonal neuropathy type of Guillain-Barré syndrome. © The Author(s) 2014.

Common Pediatric Disabilities: Medical Aspects and Educational Implications.

ERIC Educational Resources Information Center

Tyler, Janet Siantz; Colson, Steven

1994-01-01

This paper presents definitions of common pediatric disabilities and information about incidence, causes, diagnosis, common characteristics, complications with educational implications, and multidisciplinary intervention approaches. It covers the following conditions: attention deficit hyperactivity disorder, cerebral palsy, Down syndrome, fragile…

Aripiprazole Selectively Reduces Motor Tics in a Young Animal Model for Tourette’s Syndrome and Comorbid Attention Deficit and Hyperactivity Disorder

PubMed Central

Rizzo, Francesca; Nespoli, Ester; Abaei, Alireza; Bar-Gad, Izhar; Deelchand, Dinesh K.; Fegert, Jörg; Rasche, Volker; Hengerer, Bastian; Boeckers, Tobias M.

2018-01-01

Tourette’s syndrome (TS) is a neurodevelopmental disorder characterized primarily by motor and vocal tics. Comorbidities such as attention deficit and hyperactivity disorder (ADHD) are observed in over 50% of TS patients. We applied aripiprazole in a juvenile rat model that displays motor tics and hyperactivity. We additionally assessed the amount of ultrasonic vocalizations (USVs) as an indicator for the presence of vocal tics and evaluated the changes in the striatal neurometabolism using in vivo proton magnetic resonance spectroscopy (1H-MRS) at 11.7T. Thirty-one juvenile spontaneously hypertensive rats (SHRs) underwent bicuculline striatal microinjection and treatment with either aripiprazole or vehicle. Control groups were sham operated and sham injected. Behavior, USVs, and striatal neurochemical profile were analyzed at early, middle, and late adolescence (postnatal days 35 to 50). Bicuculline microinjections in the dorsolateral striatum induced motor tics in SHR juvenile rats. Acute aripiprazole administration selectively reduced both tic frequency and latency, whereas stereotypies, USVs, and hyperactivity remained unaltered. The striatal neurochemical profile was only moderately altered after tic-induction and was not affected by systemic drug treatment. When applied to a young rat model that provides high degrees of construct, face, and predictive validity for TS and comorbid ADHD, aripiprazole selectively reduces motor tics, revealing that tics and stereotypies are distinct phenomena in line with clinical treatment of patients. Finally, our 1H-MRS results suggest a critical revision of the striatal role in the hypothesized cortico-striatal dysregulation in TS pathophysiology. PMID:29487562

Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome.

PubMed

Wheeler, Anne; Raspa, Melissa; Bann, Carla; Bishop, Ellen; Hessl, David; Sacco, Pat; Bailey, Donald B

2014-01-01

Behavior problems are a common challenge for individuals with fragile X syndrome (FXS) and constitute the primary clinical outcome domain in trials testing new FXS medications. However, little is known about the relationship between caregiver-reported behavior problems and co-occurring conditions such as anxiety and attention problems. In this study, 350 caregivers, each with at least one son or daughter with full-mutation FXS, rated one of their children with FXS using the Aberrant Behavior Checklist-Community Version (ABC-C); the Anxiety subscale of the Anxiety, Depression, and Mood Scale; and the Attention/Hyperactivity Items from the Symptom Inventories. In addition to examining family consequences of these behaviors, this study also sought to replicate psychometric findings for the ABC-C in FXS, to provide greater confidence for its use in clinical trials with this population. Psychometric properties and baseline ratings of problem behavior were consistent with other recent studies, further establishing the profile of problem behavior in FXS. Cross-sectional analyses suggest that selected dimensions of problem behavior, anxiety, and hyperactivity are age related; thus, age should serve as an important control in any studies of problem behavior in FXS. Measures of anxiety, attention, and hyperactivity were highly associated with behavior problems, suggesting that these factors at least coincide with problem behavior. However, these problems generally did not add substantially to variance in caregiver burden predicted by elevated behavior problems. The results provide further evidence of the incidence of problem behaviors and co-occurring conditions in FXS and the impact of these behaviors on the family. © 2013 Wiley Periodicals, Inc.

Can Individualized Health Care Plans Help Increase Continence in Children with Dysfunctional Elimination Syndrome?

ERIC Educational Resources Information Center

Boisclair-Fahey, Anne

2009-01-01

School-age children with dysfunctional elimination syndrome (DES) do not always have school support for their treatment plans, including an every 2-hr voiding schedule. The objective of this study was to increase school support of treatment plans by allowing access to bathrooms, thereby improving continence. An eight-question survey about bathroom…

Attention deficit-hyperactivity disorder symptoms in women with polycystic ovary syndrome.

PubMed

Hergüner, Sabri; Harmancı, Hatice; Toy, Harun

2015-01-01

Several studies suggest that androgens are involved in the etiology of attention deficit-hyperactivity disorder (ADHD). In this study, we investigated the ADHD symptoms in women with polycystic ovary syndrome (PCOS), a complex endocrine, hormonal, and metabolic condition associated with hyperandrogenism. Forty women between the ages of 18 and 35 years with PCOS were recruited for the study group. For comparison, 40 healthy women who had regular menses were included. Current and childhood ADHD symptoms were assessed by using the Adult ADHD Self-Report Scale and Wender-Utah Rating Scale, respectively. Women with PCOS had higher total Adult ADHD Self-Report Scale and total Wender-Utah Rating Scale scores than controls. According to the Wender-Utah Rating Scale, the frequency of childhood ADHD was significantly higher in PCOS group than the control. Adult ADHD Self-Report Scale: Hyperactivity-Impulsivity and Wender-Utah Rating Scale: Behavioral Problems/Impulsivity scores were significantly higher in women with PCOS. However, there were no significant differences between groups in both current and childhood inattention scores. We found no correlations between ADHD symptoms and serum hormone levels including testosterone in women with PCOS. These results suggest that women with PCOS have higher ADHD symptoms. Further studies are needed to investigate the association between PCOS and ADHD. © The Author(s) 2015.

Large-Scale Brain Systems in ADHD: Beyond the Prefrontal-Striatal Model

PubMed Central

Castellanos, F. Xavier; Proal, Erika

2012-01-01

Attention-deficit/hyperactivity disorder (ADHD) has long been thought to reflect dysfunction of prefrontal-striatal circuitry, with involvement of other circuits largely ignored. Recent advances in systems neuroscience-based approaches to brain dysfunction enable the development of models of ADHD pathophysiology that encompass a number of different large-scale “resting state” networks. Here we review progress in delineating large-scale neural systems and illustrate their relevance to ADHD. We relate frontoparietal, dorsal attentional, motor, visual, and default networks to the ADHD functional and structural literature. Insights emerging from mapping intrinsic brain connectivity networks provide a potentially mechanistic framework for understanding aspects of ADHD, such as neuropsychological and behavioral inconsistency, and the possible role of primary visual cortex in attentional dysfunction in the disorder. PMID:22169776

Frontostriatal Dysfunction During Decision Making in Attention-Deficit/Hyperactivity Disorder and Obsessive-Compulsive Disorder.

PubMed

Norman, Luke J; Carlisi, Christina O; Christakou, Anastasia; Murphy, Clodagh M; Chantiluke, Kaylita; Giampietro, Vincent; Simmons, Andrew; Brammer, Michael; Mataix-Cols, David; Rubia, Katya

2018-03-24

The aim of the current paper is to provide the first comparison of computational mechanisms and neurofunctional substrates in adolescents with attention-deficit/hyperactivity disorder (ADHD) and adolescents with obsessive-compulsive disorder (OCD) during decision making under ambiguity. Sixteen boys with ADHD, 20 boys with OCD, and 20 matched control subjects (12-18 years of age) completed a functional magnetic resonance imaging version of the Iowa Gambling Task. Brain activation was compared between groups using three-way analysis of covariance. Hierarchical Bayesian analysis was used to compare computational modeling parameters between groups. Patient groups shared reduced choice consistency and relied less on reinforcement learning during decision making relative to control subjects, while adolescents with ADHD alone demonstrated increased reward sensitivity. During advantageous choices, both disorders shared underactivation in ventral striatum, while OCD patients showed disorder-specific underactivation in the ventromedial orbitofrontal cortex. During outcome evaluation, shared underactivation to losses in patients relative to control subjects was found in the medial prefrontal cortex and shared underactivation to wins was found in the left putamen/caudate. ADHD boys showed disorder-specific dysfunction in the right putamen/caudate, which was activated more to losses in patients with ADHD but more to wins in control subjects. The findings suggest shared deficits in using learned reward expectancies to guide decision making, as well as shared dysfunction in medio-fronto-striato-limbic brain regions. However, findings of unique dysfunction in the ventromedial orbitofrontal cortex in OCD and in the right putamen in ADHD indicate additional, disorder-specific abnormalities and extend similar findings from inhibitory control tasks in the disorders to the domain of decision making under ambiguity. Copyright © 2018 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Correlation between clinical manifestations of nocturnal enuresis and attentional performance in children with attention deficit hyperactivity disorder (ADHD).

PubMed

Yang, Teng-Kai; Huang, Kuo-How; Chen, Shyh-Chyan; Chang, Hong-Chiang; Yang, Hung-Ju; Guo, Ya-Jun

2013-01-01

Children with attention deficit hyperactivity disorder (ADHD) tend to be more vulnerable to various forms of voiding dysfunction and nocturnal enuresis (NE). We attempt to compare the clinical manifestations and attentional performance between ADHD children with NE and those without NE. We consecutively enrolled children diagnosed with ADHD in child and adolescent psychiatric clinics. The questionnaires for evaluation of ADHD symptoms and voiding dysfunction symptoms were administered to all study participants. All participants also received the Test Battery for Attention Performance (TAP) for assessment of attentional function. A total of 53 children were enrolled in this study, comprising 47 boys and six girls. The prevalence rate of NE was 28.3%. Children in the NE group had statistically significant higher dysfunctional voiding symptom score (5.40 ± 3.66 vs.3.16 ± 2.74; p = 0.018) and two subscales of "When I wet myself, my underwear is soaked" (p < 0.001) and "I miss having a bowel movement every day" (p = 0.047). There were no significant differences with regard to all psychiatric evaluations between the NE and non-NE groups. In the TAP test, the NE group showed a significantly shorter reaction time in the domain of inhibitory control, working memory, and auditory sustained attention than the non-NE group. Children with ADHD have a high prevalence of NE. ADHD children with NE had a significantly higher dysfunctional voiding symptom score and shorter reaction time in most domains of the TAP test. Further study is needed to discern the impact of NE on the neuropsychological function of ADHD children. Copyright © 2012. Published by Elsevier B.V.

Do patients with symptoms and signs of lower urinary tract dysfunction need a urodynamic diagnosis? ICI-RS 2013.

PubMed

Rosier, Peter F W M; Giarenis, Ilias; Valentini, Francoise A; Wein, Alan; Cardozo, Linda

2014-06-01

The ICI-RS Think Tank discussed the diagnostic process for patients who present with symptoms and signs of lower urinary tract (LUT) dysfunction. This manuscript reflects the Think Tank's summary and opinion. An overview of the existing evidence and consensus regarding urodynamic testing was presented and discussed in relation to contemporary treatment strategies. Evidence of the validity of the diagnostic process in relation to the contemporary management paradigm is incomplete, scattered, and sometimes conflicting and therefore a process redesign may be necessary. The Think Tanks' suggestion, contained in this manuscript, is that the symptoms and signs that the patients present can be more precisely delineated as syndromes. The overactive bladder syndrome (OAB-S); the stress urinary incontinence syndrome (SUI-S); the urinary incontinence syndrome (UI-S); the voiding dysfunction syndrome (VD-S); and or the neurogenic LUT dysfunction syndrome (NLUTD-S) may become evidence based starting point for initial management. Consistent addition of the word syndrome, if adequately defined, acknowledges the uncertainty, but will improve outcome and will improve selection of patients that need further (invasive) diagnosis before management. The ICS-RS Think Tank has summarized the level of evidence for UDS and discussed the evidence in association with the currently changing management paradigm. The ICI-RS Think Tank recommends that the diagnostic process for patients with LUTD can be redesigned. Carefully delineated and evidence based LUTD syndromes may better indicate, personalize and improve the outcome of initial management, and may also contribute to improved and rational selection of patients for invasive UDS. Neurourol. Urodynam. 33:581-586, 2014. © 2014 Wiley Periodicals, Inc. © 2014 Wiley Periodicals, Inc.

Muscle stem cell dysfunction impairs muscle regeneration in a mouse model of Down syndrome.

PubMed

Pawlikowski, Bradley; Betta, Nicole Dalla; Elston, Tiffany; Williams, Darian A; Olwin, Bradley B

2018-03-09

Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome. Ts65Dn satellite cells accumulate DNA damage and over express Usp16, a histone de-ubiquitinating enzyme that regulates the DNA damage response. Impairment of satellite cell function, which further declines as Ts65Dn mice age, underscores stem cell deficiencies as an important contributor to Down syndrome pathologies.

Cholinergic Signaling Exerts Protective Effects in Models of Sympathetic Hyperactivity-Induced Cardiac Dysfunction

PubMed Central

Gavioli, Mariana; Lara, Aline; Almeida, Pedro W. M.; Lima, Augusto Martins; Damasceno, Denis D.; Rocha-Resende, Cibele; Ladeira, Marina; Resende, Rodrigo R.; Martinelli, Patricia M.; Melo, Marcos Barrouin; Brum, Patricia C.; Fontes, Marco Antonio Peliky; Souza Santos, Robson A.; Prado, Marco A. M.; Guatimosim, Silvia

2014-01-01

Cholinergic control of the heart is exerted by two distinct branches; the autonomic component represented by the parasympathetic nervous system, and the recently described non-neuronal cardiomyocyte cholinergic machinery. Previous evidence has shown that reduced cholinergic function leads to deleterious effects on the myocardium. Yet, whether conditions of increased cholinergic signaling can offset the pathological remodeling induced by sympathetic hyperactivity, and its consequences for these two cholinergic axes are unknown. Here, we investigated two models of sympathetic hyperactivity: i) the chronic beta-adrenergic receptor stimulation evoked by isoproterenol (ISO), and ii) the α2A/α2C-adrenergic receptor knockout (KO) mice that lack pre-synaptic adrenergic receptors. In both models, cholinergic signaling was increased by administration of the cholinesterase inhibitor, pyridostigmine. First, we observed that isoproterenol produces an autonomic imbalance characterized by increased sympathetic and reduced parasympathetic tone. Under this condition transcripts for cholinergic proteins were upregulated in ventricular myocytes, indicating that non-neuronal cholinergic machinery is activated during adrenergic overdrive. Pyridostigmine treatment prevented the effects of ISO on autonomic function and on the ventricular cholinergic machinery, and inhibited cardiac remodeling. α2A/α2C-KO mice presented reduced ventricular contraction when compared to wild-type mice, and this dysfunction was also reversed by cholinesterase inhibition. Thus, the cardiac parasympathetic system and non-neuronal cardiomyocyte cholinergic machinery are modulated in opposite directions under conditions of increased sympathetic drive or ACh availability. Moreover, our data support the idea that pyridostigmine by restoring ACh availability is beneficial in heart disease. PMID:24992197

Developmental Dyscalculia and Medical Assessment.

ERIC Educational Resources Information Center

Shalev, Ruth S.; Gross-Tsur, Varda

1993-01-01

Medical evaluation of seven third-grade children with developmental dyscalculia in a mainstream setting identified neurological conditions (including petit mal seizures, Gerstmann syndrome, and attention deficit disorder without hyperactivity) in all the children. Findings suggest that children who are not improving academically should undergo…

Executive dysfunction and delay aversion in attention deficit hyperactivity disorder: nosologic and diagnostic implications.

PubMed

Sonuga-Barke, Edmund J S; Sergeant, Joseph A; Nigg, Joel; Willcutt, Erik

2008-04-01

In this article the authors reflect on the role of executive function (EF) deficits and delay aversion (DAv) in the diagnosis of attention deficit hyperactivity disorder (ADHD). The authors, empirical review shows clearly that EF deficits and DAv are implicated in ADHD, although neither is necessary for ADHD nor specific to it. The constructs are somewhat dissociable from one another so that each may represent a distinctive feature associated with an ADHD subsample. The authors argue that neither EF deficits nor DAv add much value to the diagnosis of ADHD as it is currently conceptualized, but may be crucial in helping to partition heterogeneity in the condition, leading to the refinement of ADHD nosology.

"A" motor neuron disease.

PubMed

Vishnu, Venugopalan Y; Modi, Manish; Prabhakar, Sudesh; Bhansali, Anil; Goyal, Manoj Kumar

2014-01-15

Allgrove syndrome is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenal insufficiency, autonomic dysfunction and amyotrophy. The syndrome has been described in childhood and adult presentation, as in our case, is very rare. There is a considerable delay in diagnosis due to lack of awareness about the syndrome. We report a single case of a 36 year old man who was initially diagnosed and treated for achalasia cardia in our institute 14 years before. After 8 years he presented again with weakness and wasting predominantly distally. He had tongue fasciculations, brisk reflexes and extensor plantar. After supportive electrophysiological studies he was diagnosed as Amyotrophic lateral sclerosis. After 5 years he presented with generalised fatigue without any significant worsening of his neurological status. On reevaluation he had alacrimia, autonomic dysfunction and mild ACTH resistance. Allgrove syndrome may be an underdiagnosed cause of multisystem neurological disease due to the heterogeneous clinical presentation as well as for ignorance of clinician about the syndrome. Based on our case, we also believe that there does exist a subgroup of patients who follow a less severe and chronic course. Recognition of syndrome allows for treatment of autonomic dysfunction, adrenal insufficiency and dysphagia. © 2013.

Latent profile analysis of neuropsychological measures to determine preschoolers' risk for ADHD.

PubMed

Rajendran, Khushmand; O'Neill, Sarah; Marks, David J; Halperin, Jeffrey M

2015-09-01

Hyperactive/Inattentive preschool children show clear evidence of neuropsychological dysfunction. We examined whether patterns and severity of test scores could reliably identify subgroups of preschoolers with differential risk for ADHD during school-age. Typically developing (TD: n = 76) and Hyperactive/Inattentive (HI: n = 138) 3-4 year olds were assessed annually for 6 years (T1-T6). Latent profile analysis (LPA) was used to form subgroups among the HI group based on objective/neuropsychological measures (NEPSY, Actigraph and Continuous Performance Test). Logistic regression assessed the predictive validity of empirically formed subgroups at risk for ADHD diagnosis relative to the TD group and to each other from T2 to T6. Latent profile analysis yielded two subgroups of HI preschoolers: (a) selectively weak Attention/Executive functions, and (b) pervasive neuropsychological dysfunction across all measures. Both subgroups were more likely to have ADHD at all follow-up time-points relative to the TD group (OR range: 11.29-86.32), but there were no significant differences between the LPA-formed subgroups of HI children at any time-point. Objective/neuropsychological measures distinguish HI preschoolers from their TD peers, but patterns and severity of neuropsychological dysfunction do not predict risk for ADHD during school-age. We hypothesize that trajectories in at-risk children are influenced by subsequent environmental and neurodevelopmental factors, raising the possibility that they are amenable to early intervention. © 2015 Association for Child and Adolescent Mental Health.

Advances in the Treatment of Fragile X Syndrome

PubMed Central

Hagerman, Randi J.; Berry-Kravis, Elizabeth; Kaufmann, Walter E.; Ono, Michele Y.; Tartaglia, Nicole; Lachiewicz, Ave; Kronk, Rebecca; Delahunty, Carol; Hessl, David; Visootsak, Jeannie; Picker, Jonathan; Gane, Louise; Tranfaglia, Michael

2010-01-01

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here. PMID:19117905

Dysfunctional adipose tissue and low-grade inflammation in the management of the metabolic syndrome: current practices and future advances

PubMed Central

van Greevenbroek, Marleen M. J.; Schalkwijk, Casper G.; Stehouwer, Coen D.A.

2016-01-01

The ongoing worldwide obesity epidemic makes the metabolic syndrome an increasingly important entity. In this review, we provide a short background on the metabolic syndrome, we discuss recent developments in the three main options that have been identified for intervention in the metabolic syndrome, i.e. lifestyle and surgical and pharmacological interventions, and we focus on different views in the literature and also include our own viewpoints on the metabolic syndrome. In addition, we discuss some emerging treatment targets for adipose tissue dysfunction and low-grade inflammation, i.e. activation of the inflammasome and the complement system, and consider some selected opportunities for intervention in these processes. PMID:27803798

The Relationship between Divorce and the Psychological Well-Being of Children with ADHD: Differences in Age, Gender, and Subtype

ERIC Educational Resources Information Center

Heckel, Leila; Clarke, Adam; Barry, Robert; McCarthy, Rory; Selikowitz, Mark

2009-01-01

It is generally accepted that Attention-Deficit/Hyperactivity Disorder (ADHD) results from a dysfunction of the central nervous system, which has led to a commonly held belief that environmental factors play little role in the behavioural problems of children identified as having ADHD. Therefore, the two studies reported in this article…

Disentangling weak coherence and executive dysfunction: planning drawing in autism and attention-deficit/hyperactivity disorder.

PubMed Central

Booth, Rhonda; Charlton, Rebecca; Hughes, Claire; Happé, Francesca

2003-01-01

A tendency to focus on details at the expense of configural information, 'weak coherence', has been proposed as a cognitive style in autism. In the present study we tested whether weak coherence might be the result of executive dysfunction, by testing clinical groups known to show deficits on tests of executive control. Boys with autism spectrum disorders (ASD) were compared with age- and intelligence quotient (IQ)-matched boys with attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) boys, on a drawing task requiring planning for the inclusion of a new element. Weak coherence was measured through analysis of drawing style. In line with the predictions made, the ASD group was more detail-focused in their drawings than were either ADHD or TD boys. The ASD and ADHD groups both showed planning impairments, which were more severe in the former group. Poor planning did not, however, predict detail-focus, and scores on the two aspects of the task were unrelated in the clinical groups. These findings indicate that weak coherence may indeed be a cognitive style specific to autism and unrelated to cognitive deficits in frontal functions. PMID:12639335

Neurological soft signs are associated with attentional dysfunction in children with attention deficit hyperactivity disorder.

PubMed

Pitzianti, Mariabernarda; D'Agati, Elisa; Casarelli, Livia; Pontis, Marco; Kaunzinger, Ivo; Lange, Klaus W; Tucha, Oliver; Curatolo, Paolo; Pasini, Augusto

2016-11-01

Inattention is one of the core symptoms of Attention Deficit Hyperactivity Disorder (ADHD). Most of patients with ADHD show motor impairment, consisting in the persistence of neurological soft signs (NSS). Our aim was to evaluate attentional and motor functioning in an ADHD sample and healthy children (HC) and possible link between attentional dysfunction and motor impairment in ADHD. Twenty-seven drug-naive patients with ADHD and 23 HC were tested with a test battery, measuring different aspects of attention. Motor evaluation has provided three primary variables: overflow movements (OM), dysrhythmia and total speed of timed activities. Compared to HC, patients were impaired in a considerable number of attentional processes and showed a greater number of NSS. Significant correlations between disturbances of attention and motor abnormalities were observed in ADHD group. Our findings suggest that attentional processes could be involved in the pathophysiology of the NSS and add scientific evidence to the predictive value of NSS as indicators of the severity of functional impairment in ADHD. Given the marked improvement or complete resolution of NSS following treatment with methylphenidate, we suggest that evaluation of NSS is useful to monitor the effectiveness of pharmacological treatment with MPH in ADHD.

Ten years on: a follow-up review of ERP research in attention-deficit/hyperactivity disorder.

PubMed

Johnstone, Stuart J; Barry, Robert J; Clarke, Adam R

2013-04-01

This article reviews the event-related potential (ERP) literature in relation to attention-deficit/hyperactivity disorder (AD/HD) over the years 2002-2012. ERP studies exploring various aspects of brain functioning in children and adolescents with AD/HD are reviewed, with a focus on group effects and interpretations in the domains of attention, inhibitory control, performance monitoring, non-pharmacological treatments, and ERP/energetics interactions. There has been a distinct shift in research intensity over the past 10 years, with a large increase in ERP studies conducted in the areas of inhibitory control and performance monitoring. Overall, the research has identified a substantial number of ERP correlates of AD/HD. Robust differences from healthy controls have been reported in early orienting, inhibitory control, and error-processing components. These data offer potential to improve our understanding of the specific brain dysfunction(s) which contribute to the disorder. The literature would benefit from a more rigorous approach to clinical group composition and consideration of age effects, as well as increased emphasis on replication and extension studies using exacting participant, task, and analysis parameters. Copyright © 2012 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Observer variability identifying attention deficit/hyperactivity disorder in 10-year-old children born extremely preterm.

PubMed

Leviton, Alan; Hunter, Scott J; Scott, Megan N; Hooper, Stephen R; Joseph, Robert M; O'Shea, Thomas Michael; Allred, Elizabeth N; Kuban, Karl

2017-08-01

A DSM-5 diagnosis of attention deficit/hyperactive disorder (ADHD) requires that symptoms be present in two settings. We wanted to see how teachers and parents compare on their assessments. We evaluated how well Child Symptom Inventory-4 (CSI-4) reports from 871 parents and 634 teachers of 10-year-old children born before the 28th week of gestation provided information about indicators of school dysfunction. Kappa values for parent and teacher agreement of any ADHD were at best fair to poor (<0.41). Nevertheless, ADHD identified by each alone provided a moderate amount of information about such indicators of school dysfunction as grade repetition. Only occasionally did agreement provide more information than provided by only one reporter. Mother's social class and intelligence level did not discriminate between parents who did and did not agree with the teacher. ADHD identified by a single observer can provide appreciable information about a range of the child's functions needed for success in school and, therefore, should not be discounted when another observer does not consider the child to have ADHD symptoms. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists

PubMed Central

Abdala, Ana P.; Bissonnette, John M.; Newman-Tancredi, Adrian

2014-01-01

Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system. One of the most severe and life-threatening presentations of this syndrome is brainstem dysfunction, which results in autonomic disturbances such as breathing deficits, typified by episodes of breathing cessation intercalated with episodes of hyperventilation or irregular breathing. Defects in numerous neurotransmitter systems have been observed in Rett syndrome both in animal models and patients. Here we dedicate special attention to serotonin due to its role in promoting regular breathing, increasing vagal tone, regulating mood, alleviating Parkinsonian-like symptoms and potential for therapeutic translation. A promising new symptomatic strategy currently focuses on regulation of serotonergic function using highly selective serotonin type 1A (5-HT1A) “biased agonists.” We address this newly emerging therapy for respiratory brainstem dysfunction and challenges for translation with a holistic perspective of Rett syndrome, considering potential mood and motor effects. PMID:24910619

Evaluation of cerebral-cardiac syndrome using echocardiography in a canine model of acute traumatic brain injury.

PubMed

Qian, Rong; Yang, Weizhong; Wang, Xiumei; Xu, Zhen; Liu, Xiaodong; Sun, Bing

2015-01-01

Previous studies have confirmed that traumatic brain injury (TBI) can induce general adaptation syndrome (GAS), which subsequently results in myocardial dysfunction and damage in some patients with acute TBI; this condition is also termed as cerebral-cardiac syndrome. However, most clinicians ignore the detection and treatment of myocardial dysfunction, and instead concentrate only on the serious neural damage that is observed in acute TBI, which is one of the most important fatal factors. Therefore, clarification is urgently needed regarding the relationship between TBI and myocardial dysfunction. In the present study, we evaluated 18 canine models of acute TBI, by using real-time myocardial contrast echocardiography and strain rate imaging to accurately evaluate myocardial function and regional microcirculation, including the strain rate of the different myocardial segments, time-amplitude curves, mean ascending slope of the curve, and local myocardial blood flow. Our results suggest that acute TBI often results in cerebral-cardiac syndrome, which rapidly progresses to the serious stage within 3 days. This study is the first to provide comprehensive ultrasonic characteristics of cerebral-cardiac syndrome in an animal model of TBI.

A comprehensive assessment of cognitive function in the common genetic generalized epilepsy syndromes.

PubMed

Loughman, A; Bowden, S C; D'Souza, W J

2017-03-01

Considered to be benign conditions, the common genetic generalized epilepsy (GGE) syndromes are now known to be frequently accompanied by cognitive dysfunction. However, unresolved issues impede clinical management of this common comorbidity, including which cognitive abilities are most affected, whether there are differences between syndromes and how seizure type and mood symptoms affect cognitive dysfunction. We provide a detailed description of cognitive ability and evaluate factors contributing to cognitive dysfunction. A total of 76 adults with GGE were assessed with the Woodcock Johnson III Tests of Cognitive Abilities. Scores on tests of overall cognitive ability, acquired knowledge, long-term retrieval and speed of information processing were significantly below the normative mean. Long-term retrieval was a pronounced weakness with a large reduction in scores (d = 0.84). GGE syndrome, seizure type and the presence of recent psychopathology symptoms were not significantly associated with cognitive function. This study confirms previous meta-analytic findings with a prospective study, offers new insights into the cognitive comorbidity of these common epilepsy syndromes and reinforces the need for cognitive interventions in people with GGE. © 2016 EAN.

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

PubMed

Ward, Christopher S; Huang, Teng-Wei; Herrera, José A; Samaco, Rodney C; Pitcher, Meagan R; Herron, Alan; Skinner, Steven A; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K; Neul, Jeffrey L

2016-01-01

Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

PubMed Central

Ward, Christopher S.; Huang, Teng-Wei; Herrera, José A.; Samaco, Rodney C.; Pitcher, Meagan R.; Herron, Alan; Skinner, Steven A.; Kaufmann, Walter E.; Glaze, Daniel G.; Percy, Alan K.; Neul, Jeffrey L.

2016-01-01

Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized. PMID:27828991

[Minimal emotional dysfunction and first impression formation in personality disorders].

PubMed

Linden, M; Vilain, M

2011-01-01

"Minimal cerebral dysfunctions" are isolated impairments of basic mental functions, which are elements of complex functions like speech. The best described are cognitive dysfunctions such as reading and writing problems, dyscalculia, attention deficits, but also motor dysfunctions such as problems with articulation, hyperactivity or impulsivity. Personality disorders can be characterized by isolated emotional dysfunctions in relation to emotional adequacy, intensity and responsivity. For example, paranoid personality disorders can be characterized by continuous and inadequate distrust, as a disorder of emotional adequacy. Schizoid personality disorders can be characterized by low expressive emotionality, as a disorder of effect intensity, or dissocial personality disorders can be characterized by emotional non-responsivity. Minimal emotional dysfunctions cause interactional misunderstandings because of the psychology of "first impression formation". Studies have shown that in 100 ms persons build up complex and lasting emotional judgements about other persons. Therefore, minimal emotional dysfunctions result in interactional problems and adjustment disorders and in corresponding cognitive schemata.From the concept of minimal emotional dysfunctions specific psychotherapeutic interventions in respect to the patient-therapist relationship, the diagnostic process, the clarification of emotions and reality testing, and especially an understanding of personality disorders as impairment and "selection, optimization, and compensation" as a way of coping can be derived.

Basolateral amygdala and stress-induced hyperexcitability affect motivated behaviors and addiction.

PubMed

Sharp, B M

2017-08-08

The amygdala integrates and processes incoming information pertinent to reward and to emotions such as fear and anxiety that promote survival by warning of potential danger. Basolateral amygdala (BLA) communicates bi-directionally with brain regions affecting cognition, motivation and stress responses including prefrontal cortex, hippocampus, nucleus accumbens and hindbrain regions that trigger norepinephrine-mediated stress responses. Disruption of intrinsic amygdala and BLA regulatory neurocircuits is often caused by dysfunctional neuroplasticity frequently due to molecular alterations in local GABAergic circuits and principal glutamatergic output neurons. Changes in local regulation of BLA excitability underlie behavioral disturbances characteristic of disorders including post-traumatic stress syndrome (PTSD), autism, attention-deficit hyperactivity disorder (ADHD) and stress-induced relapse to drug use. In this Review, we discuss molecular mechanisms and neural circuits that regulate physiological and stress-induced dysfunction of BLA/amygdala and its principal output neurons. We consider effects of stress on motivated behaviors that depend on BLA; these include drug taking and drug seeking, with emphasis on nicotine-dependent behaviors. Throughout, we take a translational approach by integrating decades of addiction research on animal models and human trials. We show that changes in BLA function identified in animal addiction models illuminate human brain imaging and behavioral studies by more precisely delineating BLA mechanisms. In summary, BLA is required to promote responding for natural reward and respond to second-order drug-conditioned cues; reinstate cue-dependent drug seeking; express stress-enhanced reacquisition of nicotine intake; and drive anxiety and fear. Converging evidence indicates that chronic stress causes BLA principal output neurons to become hyperexcitable.

Basolateral amygdala and stress-induced hyperexcitability affect motivated behaviors and addiction

PubMed Central

Sharp, B M

2017-01-01

The amygdala integrates and processes incoming information pertinent to reward and to emotions such as fear and anxiety that promote survival by warning of potential danger. Basolateral amygdala (BLA) communicates bi-directionally with brain regions affecting cognition, motivation and stress responses including prefrontal cortex, hippocampus, nucleus accumbens and hindbrain regions that trigger norepinephrine-mediated stress responses. Disruption of intrinsic amygdala and BLA regulatory neurocircuits is often caused by dysfunctional neuroplasticity frequently due to molecular alterations in local GABAergic circuits and principal glutamatergic output neurons. Changes in local regulation of BLA excitability underlie behavioral disturbances characteristic of disorders including post-traumatic stress syndrome (PTSD), autism, attention-deficit hyperactivity disorder (ADHD) and stress-induced relapse to drug use. In this Review, we discuss molecular mechanisms and neural circuits that regulate physiological and stress-induced dysfunction of BLA/amygdala and its principal output neurons. We consider effects of stress on motivated behaviors that depend on BLA; these include drug taking and drug seeking, with emphasis on nicotine-dependent behaviors. Throughout, we take a translational approach by integrating decades of addiction research on animal models and human trials. We show that changes in BLA function identified in animal addiction models illuminate human brain imaging and behavioral studies by more precisely delineating BLA mechanisms. In summary, BLA is required to promote responding for natural reward and respond to second-order drug-conditioned cues; reinstate cue-dependent drug seeking; express stress-enhanced reacquisition of nicotine intake; and drive anxiety and fear. Converging evidence indicates that chronic stress causes BLA principal output neurons to become hyperexcitable. PMID:28786979

Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

PubMed

Stevic, Marija; Milojevic, Irina; Bokun, Zlatko; Simic, Dusica

2015-02-01

Preoperative use of midazolam sedation is mandatory during induction of anesthesia in noncooperative and hyperactive children to prevent possible obstacles. Unusual drug reactions rarely occur in patients undergoing anesthesia or in intensive care unit. This report describes an unpredictable drug reaction after a routine midazolam premedication in a patient with no history of allergy. There has been no literature data yet to show that midazolam can provoke respiratory problems in patients with Cornelia de Lange Syndrome. In our opinion midazolam should be avoided in patients with Cornelia de Lange Syndrome, which we enforced after first unpredictable reaction.

78 FR 35272 - Agency Forms Undergoing Paperwork Reduction Act Review

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-12

...); sickle cell disease (SCD); attention-deficit/hyperactivity disorder (ADHD); and Tourette syndrome. Birth... blood disorders. Identified priority diseases, disorders, and conditions included in this information collection activity include but are not limited to preconception health; autism spectrum disorders (ASDs) and...

78 FR 14553 - Proposed Data Collections Submitted for Public Comment and Recommendations

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-06

...; deep vein thrombosis/pulmonary embolism (DVT/PE); sickle cell disease (SCD); attention-deficit/hyperactivity disorder (ADHD); and Tourette syndrome. The Children's Health Act of 2000 required the... Defects and Developmental Disabilities, Human Development and Disabilities, and Blood Disorders--NEW...

Association of morning blood pressure surge with carotid intima-media thickness and cardiac dysfunction in patients with cardiac syndrome-X.

PubMed

Mahfouz, Ragab A; Goda, Mohammad; Galal, Islam; Ghareb, Mohamed S

2018-05-23

Background & hypothesis: We hypothesized that exaggerated morning blood pressure surge, may contribute in cardiac dysfunction and arterial stiffness in patients with cardiac syndrome X. Thus we investigated the impact of morning blood pressure surge on cardiac function and carotid intima-media thickness in subjects with cardiac syndrome X. We studied patients with cardiac syndrome X using ambulatory blood pressure monitoring and investigated the association of morning blood pressure surge with carotid intima thickness, left atrial volume index and left ventricular filling (E/e'). Seventy patients with cardiac syndrome X were enrolled for the study and compared with 70 age and sex matched controls. Patients with cardiac syndrome X were stratified based on the systolic morning blood pressure surge value of control subjects to patients with exaggerated blood pressure surge (n = 42) and those with normal morning blood pressure surge (n = 28). Basal heart rate (p < .05), high sensitive C-reactive protein (p < .01), left atrial volume index (p < .01), E/e' (p < .01); carotid intima-media thickness (p < .001) and percentage of detected plaque (p < .005) were significantly higher in patients with exaggerated morning blood pressure surge group than those with morning blood pressure surge group. Morning blood pressure surge was significantly correlated with carotid intima-media thickness, high sensitive C-reactive protein, left atrial volume index and E/e' ratio in patients with cardiac syndrome X. In multivariate analysis, exaggerated morning blood pressure surge was the only independent predictor of increased carotid intima-media thickness (OR = 2.379; p < .001), and diastolic dysfunction (OR = 2.464; p < .001) in patients with cardiac syndrome X. Our data suggest that excessive morning blood pressure surge is an independent predictor for arterial stiffness and diastolic dysfunction in patients with cardiac syndrome X.

Toll-like receptor 4-induced endoplasmic reticulum stress contributes to endothelial dysfunction

USDA-ARS?s Scientific Manuscript database

Impairment of vasodilator action of insulin is associated with endothelial dysfunction and insulin resistance. Endoplasmic reticulum (ER) stress is implicated as one of the mechanisms for pathophysiology of various cardiometabolic syndromes, including insulin resistance and endothelial dysfunction. ...

[Some neurologic and psychiatric complications in endocrine disorders: the thyroid gland].

PubMed

Aszalós, Zsuzsa

2007-02-18

Thyroid hormones are of primary importance for the perinatal development of the central nervous system, and for normal function of the adult brain. These hormones primarily regulate the transcription of specific target genes. They increase the cortical serotonergic neurotransmission, and play an important role in regulating central noradrenergic and GABA function. Thyroid deficiency during the perinatal period results in mental retardation. Hypothyroidism of the adults causes most frequently dementia and depression. Other less common clinical pictures include myxoedema coma, dysfunction of cerebellum and cranial nerves. Hypothyroidism also increases predisposition of stroke. Peripheral diseases frequently include polyneuropathy, carpal tunnel syndrome, myalgic state, and rarely myokymia. Nearly all the hyperthyroid patients show minor psychiatric signs, and infrequently psychosis, dementia, confusion state, depression, apathetic thyrotoxicosis, thyrotoxic crisis, seizures, pyramidal signs, or chorea occur. The peripheral complications may be indicated by chronic thyrotoxic myopathy, infiltrative ophthalmopathy, myasthenia gravis, periodic hypokalemic paralysis and polyneuropathy. Generalized resistance to thyroid hormone was confirmed in a number of patients with attention deficit-hyperactivity disorder. Significantly elevated antithyroid antibody titers characterize Hashimoto's encephalopathy. This condition is a rare, acute - subacute, serious, life threatening, but steroid-responsive, relapsing-remitting, autoimmune disease.

Disease mongering.

PubMed

Shankar, P R; Subish, P

2007-04-01

Convincing healthy people that they are sick and require medicines can enormously expand the market. Disease mongering can turn ordinary ailments like baldness into medical problems, consider risk factors such as hypertension and osteoporosis as diseases and frame prevalence estimates to increase potential markets. In Asia, conditions like erectile dysfunction, male pattern baldness, attention deficit hyperactivity disorder and irritable bowel syndrome, and the drugs to treat them, are widely promoted. Fairness creams and traditional medicines are also widely used. The cost of disease mongering to the individual and the community is expected to be high. Some authors have argued that medicalisation of illnesses may not be a problem and the real problem may be the lack of medicines. Doctors will play a key role in combating disease mongering. Disentanglement from the pharmaceutical industry and development of a capacity for critical analysis are required. Educating patients and empowering them to make decisions are important. Several initiatives have been undertaken to combat disease mongering. Initiatives at the level of the patient and the physician are especially important. Studies on the extent and knowledge of disease mongering among doctors and medical students, and their economic and social consequences are urgently required.

How Informative Are Self-Reported Adult Attention-Deficit/Hyperactivity Disorder Symptoms? An Examination of the Agreement Between the Adult Attention-Deficit/Hyperactivity Disorder Self-Report Scale V1.1 and Adult Attention-Deficit/Hyperactivity Disorder Investigator Symptom Rating Scale.

PubMed

Silverstein, Michael J; Faraone, Stephen V; Alperin, Samuel; Biederman, Joseph; Spencer, Thomas J; Adler, Lenard A

2018-06-01

Assess agreement between self-ratings via the adult attention-deficit/hyperactivity disorder (ADHD) Self-Report Scale (ASRS)-v1.1 Symptom Checklist and clinician ratings via the adult ADHD Investigator Symptom Rating Scale (AISRS) expanded version using DSM-5 adult ADHD patients (referred sample) and ADHD controls (recruited from a primary care physician practice). The ASRS v1.1 Symptom Checklist was administered to measure self-reported ADHD symptoms and impairment, the Adult ADHD Clinical Diagnostic Scale v1.2 was used to establish an adult ADHD diagnosis and the childhood and adult/current sections of the scale were used to provide scores to measure symptoms of childhood ADHD and recent symptoms of adult ADHD, the AISRS to measure ADHD current symptom severity. Participants (n = 299; range 18-58), of which 171 were ADHD+ and 128 ADHD-. ASRS and AISRS total scores and individual subsections examining inattention, hyperactivity, emotional dysfunction (EF), and emotional dyscontrol (EC) were all significantly correlated (Spearman's ρ's = 0.78-0.89, ps < 0.01). Correlations remained significant when controlling for demographic factors and psychiatric conditions. The ASRS (self) and AISRS (clinician rated) scales have high agreement. This agreement extended not only the to the core 18 DSM symptoms, but also to the additional 13 symptoms that examine EC and EF.

Restless 'rest': intrinsic sensory hyperactivity and disinhibition in post-traumatic stress disorder.

PubMed

Clancy, Kevin; Ding, Mingzhou; Bernat, Edward; Schmidt, Norman B; Li, Wen

2017-07-01

Post-traumatic stress disorder is characterized by exaggerated threat response, and theoretical accounts to date have focused on impaired threat processing and dysregulated prefrontal-cortex-amygdala circuitry. Nevertheless, evidence is accruing for broad, threat-neutral sensory hyperactivity in post-traumatic stress disorder. As low-level, sensory processing impacts higher-order operations, such sensory anomalies can contribute to widespread dysfunctions, presenting an additional aetiological mechanism for post-traumatic stress disorder. To elucidate a sensory pathology of post-traumatic stress disorder, we examined intrinsic visual cortical activity (based on posterior alpha oscillations) and bottom-up sensory-driven causal connectivity (Granger causality in the alpha band) during a resting state (eyes open) and a passive, serial picture viewing state. Compared to patients with generalized anxiety disorder (n = 24) and healthy control subjects (n = 20), patients with post-traumatic stress disorder (n = 25) demonstrated intrinsic sensory hyperactivity (suppressed posterior alpha power, source-localized to the visual cortex-cuneus and precuneus) and bottom-up inhibition deficits (reduced posterior→frontal Granger causality). As sensory input increased from resting to passive picture viewing, patients with post-traumatic stress disorder failed to demonstrate alpha adaptation, highlighting a rigid, set mode of sensory hyperactivity. Interestingly, patients with post-traumatic stress disorder also showed heightened frontal processing (augmented frontal gamma power, source-localized to the superior frontal gyrus and dorsal cingulate cortex), accompanied by attenuated top-down inhibition (reduced frontal→posterior causality). Importantly, not only did suppressed alpha power and bottom-up causality correlate with heightened frontal gamma power, they also correlated with increased severity of sensory and executive dysfunctions (i.e. hypervigilance and impulse control deficits, respectively). Therefore, sensory aberrations help construct a vicious cycle in post-traumatic stress disorder that is in action even at rest, implicating dysregulated triangular sensory-prefrontal-cortex-amygdala circuitry: intrinsic sensory hyperactivity and disinhibition give rise to frontal overload and disrupt executive control, fuelling and perpetuating post-traumatic stress disorder symptoms. Absent in generalized anxiety disorder, these aberrations highlight a unique sensory pathology of post-traumatic stress disorder (ruling out effects merely reflecting anxious hyperarousal), motivating new interventions targeting sensory processing and the sensory brain in these patients. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Association of ADHD symptoms and social competence with cognitive status in preschoolers.

PubMed

Ramos, Rosa; Freire, Carmen; Julvez, Jordi; Fernández, Mariana F; García-Esteban, Raquel; Torrent, Maties; Sunyer, Jordi; Olea, Nicolás

2013-03-01

We aimed to investigate the association of attention-deficit hyperactivity disorder (ADHD) symptoms and social competence outcomes with cognitive status in preschool children. The study population was drawn from three birth cohorts belonging to the Spanish INMA (Infancia y Medio Ambiente) project: Menorca (n = 289), Ribera d'Ebre (n = 60), and Granada (n = 108). Children were assessed at the age of 4 years for cognitive functions (McCarthy Scales of Children's Abilities, MSCA) by psychologists and for inattention and hyperactivity symptoms (ADHD Criteria of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, ADHD-DSM-IV) and social competence (California Preschool Social Competence Scale) by their teachers. Multiple regression analyses were conducted to examine potential associations between behavioral outcomes (ADHD symptoms and social competence) and MSCA cognitive outcomes, adjusting for confounders. The presence of general ADHD symptoms (inattention, hyperactivity, or both) and poorer social competence both showed negative associations with cognitive outcomes. When we compared children according to ADHD subtypes, those with inattention symptoms alone and those with both inattention and hyperactivity symptoms showed significantly lower cognitive function scores in comparison to children with no ADHD symptoms. Behavioral dysfunctions in preschoolers may be associated with impairment of cognitive functions.

Circadian Modulation of Dopamine Levels and Dopaminergic Neuron Development Contributes to Attention Deficiency and Hyperactive Behavior

PubMed Central

Huang, Jian; Zhong, Zhaomin; Wang, Mingyong; Chen, Xifeng; Tan, Yicheng; Zhang, Shuqing; He, Wei; He, Xiong; Huang, Guodong; Lu, Haiping; Wu, Ping; Che, Yi; Yan, Yi-Lin; Postlethwait, John H.; Chen, Wenbiao

2015-01-01

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent psychiatric disorders in children and adults. While ADHD patients often display circadian abnormalities, the underlying mechanisms are unclear. Here we found that the zebrafish mutant for the circadian gene period1b (per1b) displays hyperactive, impulsive-like, and attention deficit-like behaviors and low levels of dopamine, reminiscent of human ADHD patients. We found that the circadian clock directly regulates dopamine-related genes monoamine oxidase and dopamine β hydroxylase, and acts via genes important for the development or maintenance of dopaminergic neurons to regulate their number and organization in the ventral diencephalic posterior tuberculum. We then found that Per1 knock-out mice also display ADHD-like symptoms and reduced levels of dopamine, thereby showing highly conserved roles of the circadian clock in ADHD. Our studies demonstrate that disruption of a circadian clock gene elicits ADHD-like syndrome. The circadian model for attention deficiency and hyperactive behavior sheds light on ADHD pathogenesis and opens avenues for exploring novel targets for diagnosis and therapy for this common psychiatric disorder. PMID:25673850

Clinical Management of Heat-Related Illnesses

DTIC Science & Technology

2012-01-01

rhabdomyolysis and multiorgan dysfunction syndrome, and it may result in death from overwhelming cell necrosis caused by a lethal heat-shock exposure...complications such as rhabdomyolysis and multiorgan dysfunction syndrome, and it may result in death from overwhelming cell necrosis caused by a...acetaminophen lower Tco by normalizing the elevated hypothalamic set point that is caused by pyrogens; in heatstroke, the set point is normal, with

Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome).

PubMed

Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Italo Bruno Dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

2013-03-01

Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae.

Trigeminal Neuralgia, Glossopharyngeal Neuralgia, and Myofascial Pain Dysfunction Syndrome: An Update.

PubMed

Khan, Mohammad; Nishi, Shamima Easmin; Hassan, Siti Nazihahasma; Islam, Md Asiful; Gan, Siew Hua

2017-01-01

Neuropathic pain is a common phenomenon that affects millions of people worldwide. Maxillofacial structures consist of various tissues that receive frequent stimulation during food digestion. The unique functions (masticatory process and facial expression) of the maxillofacial structure require the exquisite organization of both the peripheral and central nervous systems. Neuralgia is painful paroxysmal disorder of the head-neck region characterized by some commonly shared features such as the unilateral pain, transience and recurrence of attacks, and superficial and shock-like pain at a trigger point. These types of pain can be experienced after nerve injury or as a part of diseases that affect peripheral and central nerve function, or they can be psychological. Since the trigeminal and glossopharyngeal nerves innervate the oral structure, trigeminal and glossopharyngeal neuralgia are the most common syndromes following myofascial pain dysfunction syndrome. Nevertheless, misdiagnoses are common. The aim of this review is to discuss the currently available diagnostic procedures and treatment options for trigeminal neuralgia, glossopharyngeal neuralgia, and myofascial pain dysfunction syndrome.

Trigeminal Neuralgia, Glossopharyngeal Neuralgia, and Myofascial Pain Dysfunction Syndrome: An Update

PubMed Central

Nishi, Shamima Easmin; Hassan, Siti Nazihahasma

2017-01-01

Neuropathic pain is a common phenomenon that affects millions of people worldwide. Maxillofacial structures consist of various tissues that receive frequent stimulation during food digestion. The unique functions (masticatory process and facial expression) of the maxillofacial structure require the exquisite organization of both the peripheral and central nervous systems. Neuralgia is painful paroxysmal disorder of the head-neck region characterized by some commonly shared features such as the unilateral pain, transience and recurrence of attacks, and superficial and shock-like pain at a trigger point. These types of pain can be experienced after nerve injury or as a part of diseases that affect peripheral and central nerve function, or they can be psychological. Since the trigeminal and glossopharyngeal nerves innervate the oral structure, trigeminal and glossopharyngeal neuralgia are the most common syndromes following myofascial pain dysfunction syndrome. Nevertheless, misdiagnoses are common. The aim of this review is to discuss the currently available diagnostic procedures and treatment options for trigeminal neuralgia, glossopharyngeal neuralgia, and myofascial pain dysfunction syndrome. PMID:28827979

Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome)

PubMed Central

Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Ítalo Bruno dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

2013-01-01

Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae. PMID:23887762

"Hyperglutamatergic cortico-striato-thalamo-cortical circuit" breaker drugs alleviate tics in a transgenic circuit model of Tourette׳s syndrome.

PubMed

Nordstrom, Eric J; Bittner, Katie C; McGrath, Michael J; Parks, Clinton R; Burton, Frank H

2015-12-10

The brain circuits underlying tics in Tourette׳s syndrome (TS) are unknown but thought to involve cortico/amygdalo-striato-thalamo-cortical (CSTC) loop hyperactivity. We previously engineered a transgenic mouse "circuit model" of TS by expressing an artificial neuropotentiating transgene (encoding the cAMP-elevating, intracellular A1 subunit of cholera toxin) within a small population of dopamine D1 receptor-expressing somatosensory cortical and limbic neurons that hyperactivate cortico/amygdalostriatal glutamatergic output circuits thought to be hyperactive in TS and comorbid obsessive-compulsive (OC) disorders. As in TS, these D1CT-7 ("Ticcy") transgenic mice׳s tics were alleviated by the TS drugs clonidine and dopamine D2 receptor antagonists; and their chronic glutamate-excited striatal motor output was unbalanced toward hyperactivity of the motoric direct pathway and inactivity of the cataleptic indirect pathway. Here we have examined whether these mice׳s tics are countered by drugs that "break" sequential elements of their hyperactive cortical/amygdalar glutamatergic and efferent striatal circuit: anti-serotonoceptive and anti-noradrenoceptive corticostriatal glutamate output blockers (the serotonin 5-HT2a,c receptor antagonist ritanserin and the NE alpha-1 receptor antagonist prazosin); agmatinergic striatothalamic GABA output blockers (the presynaptic agmatine/imidazoline I1 receptor agonist moxonidine); and nigrostriatal dopamine output blockers (the presynaptic D2 receptor agonist bromocriptine). Each drug class alleviates tics in the Ticcy mice, suggesting a hyperglutamatergic CSTC "tic circuit" could exist in TS wherein cortical/amygdalar pyramidal projection neurons׳ glutamatergic overexcitation of both striatal output neurons and nigrostriatal dopaminergic modulatory neurons unbalances their circuit integration to excite striatothalamic output and create tics, and illuminating new TS drug strategies. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

Prenatal exposure to very severe maternal obesity is associated with adverse neuropsychiatric outcomes in children.

PubMed

Mina, T H; Lahti, M; Drake, A J; Räikkönen, K; Minnis, H; Denison, F C; Norman, J E; Reynolds, R M

2017-01-01

Prenatal maternal obesity has been linked to adverse childhood neuropsychiatric outcomes, including increased symptoms of attention deficit hyperactivity disorder (ADHD), internalizing and externalizing problems, affective disorders and neurodevelopmental problems but few studies have studied neuropsychiatric outcomes among offspring born to very severely obese women or assessed potential familial confounding by maternal psychological distress. We evaluated neuropsychiatric symptoms in 112 children aged 3-5 years whose mothers had participated in a longitudinal study of obesity in pregnancy (50 very severe obesity, BMI ⩾40 kg/m2, obese class III and 62 lean, BMI 18.5-25 kg/m2). The mothers completed the Conners' Hyperactivity Scale, Early Symptomatic Syndrome Eliciting Neurodevelopmental Clinical Examination Questionnaire (ESSENCE-Q), Child's Sleep Habits Questionnaire (CSHQ), Strengths and Difficulties Questionnaire (SDQ), and Child Behavior Checklist (CBCL) to assess child neuropsychiatric symptoms. Covariates included child's sex, age, birthweight, gestational age, socioeconomic deprivation levels, maternal age, parity, smoking status during pregnancy, gestational diabetes and maternal concurrent symptoms of anxiety and depression assessed using State Anxiety of Spielberger State-Trait Anxiety Index (STAI) and General Health Questionnaire (GHQ), respectively. Children exposed to prenatal maternal very severe obesity had significantly higher scores in the Conners' Hyperactivity Scale; ESSENCE-Q; total sleep problems in CSHQ; hyperactivity, conduct problems and total difficulties scales of the SDQ; higher externalizing and total problems, anxious/depressed, aggressive behaviour and other problem syndrome scores and higher DSM-oriented affective, anxiety and ADHD problems in CBCL. Prenatal maternal very severe obesity remained a significant predictor of child neuropsychiatric problems across multiple scales independent of demographic factors, prenatal factors and maternal concurrent symptoms of anxiety and depression. Prenatal maternal very severe obesity is a strong predictor of increased neuropsychiatric problems in early childhood.

Coronary microvascular dysfunction equivalent to left main coronary artery disease.

PubMed

Panç, Cafer; Kocaağa, Mehmet; Erdoğan, Onur; Sarıkaya, Remzi; Umman, Sabahattin

2017-04-01

Coronary microvascular dysfunction, also known as cardiac syndrome X, is a clinical syndrome presenting with typical angina and evidence of myocardial ischemia in the absence of flow-limiting stenosis on coronary angiography. Of patients undergoing coronary angiography due to suspected myocardial ischemia, 50% are found to have normal or near-normal coronary arteries. Described in this case report is a patient who developed hypotension and ST segment depressions during treadmill exercise test. Left main coronary artery or multivessel disease was suspected. Coronary angiography was normal, but coronary flow reserve measurement revealed severe microvascular dysfunction.

Developmental exposure to acetaminophen does not induce hyperactivity in zebrafish larvae.

PubMed

Reuter, Isabel; Knaup, Sabine; Romanos, Marcel; Lesch, Klaus-Peter; Drepper, Carsten; Lillesaar, Christina

2016-08-01

First line pain relief medication during pregnancy relies nearly entirely on the over-the-counter analgesic acetaminophen, which is generally considered safe to use during gestation. However, recent epidemiological studies suggest a risk of developing attention-deficit/hyperactivity disorder (ADHD)-like symptoms in children if mothers use acetaminophen during pregnancy. Currently, there are no experimental proofs that prenatal acetaminophen exposure causes developmental brain alterations of progeny. Exposure to high acetaminophen concentrations causes liver toxicity, which is well investigated in different model organisms. However, sub-liver-toxic concentrations have not been experimentally investigated with respect to ADHD endophenotypes such as hyperactivity. We used zebrafish to investigate the potential impact of acetaminophen exposure on locomotor activity levels, and compared it to the established zebrafish Latrophilin 3 (Lphn3) ADHD-model. We determined the sub-liver-toxic concentration of acetaminophen in zebrafish larvae and treated wild-type and lphn3.1 knockdown larvae with increasing concentrations of acetaminophen. We were able to confirm that lphn3.1 knockdown alone causes hyperactivity, strengthening the implication of Lphn3 dysfunction as an ADHD risk factor. Neither acute nor chronic exposure to acetaminophen at sub-liver-toxic concentrations in wild-type or lphn3.1 knock-downs increases locomotor activity levels. Together our findings show that embryonic to larval exposure to acetaminophen does not cause hyperactivity in zebrafish larvae. Furthermore, there are no additive and/or synergistic effects of acetaminophen exposure in a susceptible background induced by knock-down of lphn3.1. Our experimental study suggests that there is, at least in zebrafish larvae, no direct link between embryonic acetaminophen exposure and hyperactivity. Further work is necessary to clarify this issue in humans.

Sexual Dysfunction in Women

MedlinePlus

... Exercise at Every AgeTics and Tourette SyndromeRead Article >>Tics and Tourette Syndrome Visit our interactive symptom checker ... age. There is a place for exercise at…Tics and Tourette SyndromeRead Article >>Exercise and FitnessTics and ...

Retinal pigment epithelium changes in Kartagener syndrome.

PubMed

Garcia, Maria D; Ventura, Camila V; Dias, João R; Chang, Ta Chen P; Berrocal, Audina M

2018-06-01

We present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration. A 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Humphrey visual field testing confirmed glaucomatous changes. Drusenoid pigment epithelial detachments were observed bilaterally with optical coherence tomography. We hypothesize that in addition to the lungs, spermatozoa and the Fallopian tubes, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome. Given recent advances in our knowledge of retinal ciliopathies, further studies are needed to understand how ciliary dysfunction affects the retina in Kartagener syndrome.

Making Sense of Every Child

ERIC Educational Resources Information Center

Viola, Stephen; Noddings, Alicia

2006-01-01

This article presents an example of two boys who have received a list of diagnoses including Attention Deficit Hyperactivity Disorder (ADHD), autism, Asperger's syndrome, Oppositional Defiant Disorder (ODD), and clinical depression. Both boys received a variety of interventions ranging from behavior modification plans to counseling and medication,…

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

PubMed Central

Winthrop, Zachary A.; Salman, Rabia; Majeed, Salman

2016-01-01

Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder. PMID:28018696

Child abuse, sudden infant death syndrome, and attention-deficit hyperactivity disorder.

PubMed

Botash, A S; Fuller, P G; Blatt, S D; Church, C C; Weinberger, H L

1995-04-01

A review of recent literature helps to clarify normal variations in the physical examination of children who are thought to have been sexually abused. In many instances, no abnormal physical findings are discovered. Clinicians must continue to pay careful attention to the history and work with other professionals to implement appropriate management, despite the lack of physical findings. Guidelines for evaluating sudden and unexpected infant deaths are reviewed. The current recommendations of the American Academy of Pediatrics for infant sleep positions are discussed in light of epidemiologic studies in the United States and other countries. Attention-deficit hyperactivity disorder appears to respond best to a combination of stimulant medication, parent training in coping with behavior of affected children, and social skill training for the affected children themselves. A review of recent research failed to reach consistent correlations between resistance to thyroid hormone and attention-deficit hyperactivity disorder.

Attention deficit hyperactivity disorder and the behavior of "Che" Guevara.

PubMed

Teive, Hélio A G; Zavala, Jorge A; Munhoz, Renato P; Lara, Diogo R; Lima, Pedro; Palmini, André

2009-09-01

Attention deficit hyperactivity disorder (ADHD) is a childhood onset neuropsychiatric disorder characterized by inattention, hyperactivity and impulsivity. ADHD is related to several co-morbidities, such as opposition defiant disorder, conduct disorder, mood and anxiety disturbances, as well as tics and Tourette's syndrome. The objective of this report is to shed an alternative light on the personality of Ernesto "Che" Guevara, discussing whether he might have had ADHD. Several published biographies of Che Guevara were reviewed. Established ADHD criteria (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition), were used as a framework to evaluate Che's behaviour. In addition, we compared the main features of Che's reported behaviour to the set of abnormalities leading to the diagnosis of ADHD in adults proposed by Wender and colleagues and known as the UTAH ADHD criteria. Analysis of the most renowned biographies of Ernesto "Che" Guevara suggests that he may have had ADHD.

GDNF Gene Is Associated With Tourette Syndrome in a Family Study

PubMed Central

Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A.; King, Robert A.; Heiman, Gary A.; Mir, Pablo

2016-01-01

Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. Methods We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). Results The polymorphism rs3096140 in glial cell line–derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10−4). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. Conclusions As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. PMID:26096985

GDNF gene is associated with tourette syndrome in a family study.

PubMed

Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A; King, Robert A; Heiman, Gary A; Mir, Pablo

2015-07-01

Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). The polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10(-4) ). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. © 2015 International Parkinson and Movement Disorder Society.

Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery?

PubMed

Nelke, Kamil H; Pawlak, Wojciech; Gerber, Hanna

2015-01-01

Dandy-Walker syndrome is a rare congenital brain deformation. Most symptoms are related with fourth ventricle and skull base malformations. Quite often, symptoms develop from infancy or progress rapidly. Cerebellar dysfunction, lack of muscle coordination, and skull deformities involving eye movement might be present. There are several Dandy-Walker syndrome complex types. We present a 23-year-old patient who had a severe dentofacial deformity with mandibular prognathism and extremely undeveloped maxillary bone resulting in palatopharyngeal and velopharyngeal dysfunction with complete lack of soft palate function resulting in increased speech tone and volume. Performing Le Fort I osteotomy in this case is greatly controversial and might result in even greater loss of function or even its total lack. Velopharyngeal complex is very important, and every surgeon should consider its value while planning Le Fort I osteotomies.

Executive Dysfunctions among Boys with Attention Deficit Hyperactivity Disorder (ADHD): Performance-Based Test and Parents Report

ERIC Educational Resources Information Center

Shimoni, Ma'ayan; Engel-Yeger, Batya; Tirosh, Emanuel

2012-01-01

Difficulty in executive functions (EF) is a core symptom of ADHD. Yet, the EF assessments are still in controversy. It is still unclear whether the everyday implementation of EF can be assessed under laboratory conditions. Therefore, the purposes of the present study are: (a) to examine EF among boys with ADHD both in everyday behavior (as…

Metabolic Syndrome and Sexual Function in Postmenopausal Women.

PubMed

Trompeter, Susan E; Bettencourt, Ricki; Barrett-Connor, Elizabeth

2016-12-01

Limited literature suggests that sexual dysfunction in women covaries with the metabolic syndrome. This study examined the association of sexual function with metabolic syndrome and cardiovascular disease in healthy older women. There were 376 postmenopausal, community-dwelling women from the Rancho Bernardo Study (mean baseline age = 73 years) that completed a clinic visit during 1999-2002 and returned the Female Sexual Function Index (FSFI) questionnaire mailed in 2002. Thirty-nine percent reported being sexually active; 41.5% met a diagnosis of metabolic syndrome. The number of metabolic syndrome components was strongly associated with decreased sexual activity, desire, and low sexual satisfaction. Waist girth, diabetes, and hypertension were associated with decreased sexual activity. Elevated triglycerides were associated with low desire. Among the cardiovascular endpoints, heart attack, coronary artery bypass, and angina were associated with decreased sexual activity, but not with sexual desire or satisfaction. Past diagnosis of heart failure, poor circulation, and stroke were not associated with sexual function. Sexually active women with metabolic syndrome met criteria for sexual dysfunction in desire, arousal, orgasm, and satisfaction domains. The FSFI Total Score did not differ significantly between sexually active and inactive women. Metabolic syndrome was associated with decreased sexual activity, desire, and satisfaction in all women and with sexual dysfunction in most domains in sexually active women. Coronary artery disease was more prevalent in women with low sexual activity. Copyright © 2016 Elsevier Inc. All rights reserved.

Evaluating sub-clinical cognitive dysfunction and event-related potentials (P300) in clinically isolated syndrome.

PubMed

Kocer, Belgin; Unal, Tugba; Nazliel, Bijen; Biyikli, Zeynep; Yesilbudak, Zulal; Karakas, Sirel; Irkec, Ceyla

2008-12-01

This study investigated the presence of sub-clinical cognitive dysfunction in patients with clinically isolated syndrome (CIS) and the abnormalities of cognitive event-related potentials (ERPs). Subclinical cognitive dysfunction was assessed in 20 patients with CIS and in 20 healthy controls. Patients had impairments in verbal learning and long-term memory, evaluating attention, executive function and visuospatial skills, in decreasing order of frequency. SDLT and SIT were the most, and COWAT and BNT were the least affected tests. The N200 and P200 latencies were prolonged, and N100, N200 and P200 amplitudes were reduced in the patients relative to the controls, from the Fz, Cz and Pz electrode positions (p<0.05). Detailed cognitive testing is valuable in determining subclinical cognitive dysfunction in CIS patients. ERP abnormalities as well as abnormalities in detailed cognitivetesting in patients with CIS are helpful in the diagnosis of sub-clinical cognitive dysfunction.

Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.

PubMed

Scheibye-Knudsen, Morten; Tseng, Anne; Borch Jensen, Martin; Scheibye-Alsing, Karsten; Fang, Evandro Fei; Iyama, Teruaki; Bharti, Sanjay Kumar; Marosi, Krisztina; Froetscher, Lynn; Kassahun, Henok; Eckley, David Mark; Maul, Robert W; Bastian, Paul; De, Supriyo; Ghosh, Soumita; Nilsen, Hilde; Goldberg, Ilya G; Mattson, Mark P; Wilson, David M; Brosh, Robert M; Gorospe, Myriam; Bohr, Vilhelm A

2016-11-01

Cockayne syndrome is a neurodegenerative accelerated aging disorder caused by mutations in the CSA or CSB genes. Although the pathogenesis of Cockayne syndrome has remained elusive, recent work implicates mitochondrial dysfunction in the disease progression. Here, we present evidence that loss of CSA or CSB in a neuroblastoma cell line converges on mitochondrial dysfunction caused by defects in ribosomal DNA transcription and activation of the DNA damage sensor poly-ADP ribose polymerase 1 (PARP1). Indeed, inhibition of ribosomal DNA transcription leads to mitochondrial dysfunction in a number of cell lines. Furthermore, machine-learning algorithms predict that diseases with defects in ribosomal DNA (rDNA) transcription have mitochondrial dysfunction, and, accordingly, this is found when factors involved in rDNA transcription are knocked down. Mechanistically, loss of CSA or CSB leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures, and recombinant CSB can melt G-quadruplex structures. Indeed, stabilization of G-quadruplex structures activates PARP1 and leads to accelerated aging in Caenorhabditis elegans In conclusion, this work supports a role for impaired ribosomal DNA transcription in Cockayne syndrome and suggests that transcription-coupled resolution of secondary structures may be a mechanism to repress spurious activation of a DNA damage response.

A young patient with atypical type-B Wolff–Parkinson–White syndrome accompanied by left ventricular dysfunction

PubMed Central

Takeuchi, Takahiro; Tomita, Takeshi; Kasai, Hiroki; Kashiwagi, Daisuke; Yoshie, Koji; Yaguchi, Tomonori; Oguchi, Yasutaka; Kozuka, Ayako; Gautam, Milan; Motoki, Hirohiko; Okada, Ayako; Shiba, Yuji; Aizawa, Kazunori; Izawa, Atsushi; Miyashita, Yusuke; Koyama, Jun; Hongo, Minoru; Ikeda, Uichi

2014-01-01

A 15-year-old asymptomatic male patient presented with an electrocardiographic abnormality and left ventricular (LV) dysfunction (left ventricle ejection fraction of 40%) in a physical examination performed 2 years previously. LV dysfunction did not improve despite optimal medical therapy for dilated cardiomyopathy. Twelve-lead electrocardiography revealed a normal PR interval (138 ms) with a small delta-like wave in V2, but not a typical diagnostic wave that could be diagnosed as Wolff–Parkinson–White (WPW) syndrome by an electrocardiogram auto-analysis. Transthoracic echocardiography showed a remarkable asynchronous septal motion. An electrophysiological study was performed to exclude WPW syndrome. An accessory pathway (AP) was revealed on the lateral wall of the right ventricle, and radiofrequency catheter ablation was successfully performed to disconnect the AP. Thereafter, the dyssynchrony disappeared, and LV function improved. The intrinsic atrioventricular nodal conduction was very slow (A-H, 237 ms). The results of electrocardiogram auto-analysis could not be used to confirm the diagnosis of WPW syndrome because of the atypical delta wave. Conduction via the right lateral AP caused electrical dyssynchrony in the LV. This case suggests that atypical delta waves should be evaluated without depending on electrocardiographic auto-analyses in patients with LV dysfunction accompanied by dyssynchrony. PMID:26336525

[Considerations on family dynamics and the malnutrition syndrome in Mexican children].

PubMed

Vásquez-Garibay, Edgar Manuel; González-Rico, José Luis; Romero-Velarde, Enrique; Sánchez-Talamantes, Eva; Navarro-Lozano, María Eugenia; Nápoles-Rodríguez, Francisco

2015-01-01

Since the early 1990s we noted that family dysfunction was more common in children with severe primary malnutrition than in children admitted to the hospital without malnutrition. Defects on feeding habits during the first year of life, especially early weaning and inadequate complementary feeding were more common in dysfunctional families. We also observed that chronic malnutrition in preschool children, and overweight and obesity in schoolchildren were more common in children from dysfunctional families. Once the association between dysfunctional family dynamics and obesity in schoolchildren was demonstrated, it was observed that low education of fathers and mothers increased twofold the possibility of family dysfunction: OR: 2.06; 95% CI: 1.37-3.10 and OR: 2.47; 95% CI: 1.57-3.89, respectively. In addition, the low-income and the lower purchasing power of foods were associated to family dysfunction (p<0.05). A remaining task is to explore how to assess family dysfunction in composite, extended, single-parent families where there exist other persons vulnerable to the different entities of malnutrition syndrome and indeed depend on adults for their care, food and nutrition.

[Treatment of functional somatic syndrome with abdominal pain].

PubMed

Abe, Tetsuya; Kanbara, Kenji; Mizuno, Yasuyuki; Fukunaga, Mikihiko

2009-09-01

Functional somatic syndrome (FSS) with abdominal pain include functional gastrointestinal disorder, chronic pancreatitis, chronic pelvic pain syndrome, which generally contain autonomic dysfunction. Regarding the treatment of FSS, it is important to know about FSS for a therapist at first. Secondly, the therapist should find out physical dysfunction of patients positively, and confirm objectively the hypotheses about both peripheral and central pathophysiological mechanisms as much as possible. Heart rate variability is an easy method, and useful to assess autonomic function. After grasping the patient's explanatory model about the illness, the therapist showes the most acceptable treatment for the patient at last.

The pathophysiology, medical management and dental implications of adult attention-deficit/hyperactivity disorder.

PubMed

Friedlander, Arthur H; Yagiela, John A; Mahler, Michael E; Rubin, Robert

2007-04-01

Few published reports in the dental literature have focused on adult attention-deficit/hyperactivity disorder (ADHD) and its dental implications. The authors conducted a MEDLINE search for the period 2000 through 2005 using the terms "adult" and "attention-deficit" to define ADHD's pathology, medical treatment and dental implications. ADHD is a developmental condition that affects slightly more than 4 percent of the adult U.S. population. Its symptoms include inattention, hyperactivity and impulsivity that can cause personal, social, occupational and leisure-time dysfunction. Medications used to treat the disorder include stimulants, selective noradrenergic uptake inhibitors and tricyclic antidepressants. The oral health of people with ADHD may be compromised by inattention and impulsivity that impair home care regimens and can lead to cigarette addiction, which may cause oral cancer and damage the periodontium, and excessive ingestion of caffeinated sugar-laden soft drinks that promote dental caries. To safely care for this patient population, dentists must be familiar with the stimulant and nonstimulant medications used to treat adult ADHD, because these drugs can cause adverse orofacial and systemic reactions and interact adversely with dental therapeutic agents.

[Diagnostic validity of attention deficit/hyperactivity disorder: from phenomenology to neurobiology (I)].

PubMed

Trujillo-Orrego, N; Pineda, D A; Uribe, L H

2012-03-01

The diagnostic criteria for the attentional deficit hyperactivity disorder (ADHD), were defined by the American Psychiatric Association in the Diagnostic and Statistical Manual of Mental Disorders fourth version (DSM-IV) and World Health Organization in the ICD-10. The American Psychiatric Association used an internal validity analysis to select specific behavioral symptoms associated with the disorder and to build five cross-cultural criteria for its use in the categorical diagnosis. The DSM has been utilized for clinicians and researchers as a valid and stable approach since 1968. We did a systematic review of scientific literature in Spanish and English, aimed to identify the historical origin that supports ADHD as a psychiatric construct. This comprehensive review started exploring the concept of minimal brain dysfunction, hyper-activity, inattention, impulsivity since 1932 to 2011. This paper summarize all the DSM versions that include the definition of ADHD or its equivalent, and it point out the statistical and methodological approach implemented for defining ADHD as a valid epidemiological and psychometric construct. Finally the paper discusses some considerations and suggestions for the new versions of the manual.

Attentional blink in adults with attention-deficit hyperactivity disorder. Influence of eye movements.

PubMed

Armstrong, I T; Munoz, D P

2003-09-01

The attentional blink paradigm tests attention by overloading it: a list of stimuli is presented very rapidly one after another at the same location on a computer screen, each item overwriting the last, and participants monitor the list using two criteria [e.g. detect the target (red letter) and identify the probe (letter p)]. If the interval between the target and the probe is greater than about 500 ms, both are usually reported correctly, but, when the interval between the target and the probe is within 200-500 ms, report of the probe declines. This decline is the attentional blink, an interval of time when attention is supposedly switching from the first criterion to the second. The attentional blink paradigm should be difficult to perform correctly without vigilantly attending to the rapidly presented list. Vigilance tasks are often used to assess attention-deficit hyperactivity disorder (ADHD). Symptoms of the disorder include hyperactivity and attentional dysfunction; however, some people with ADHD also have difficulty maintaining gaze at a fixed location. We tested 15 adults with ADHD and their age- and sex-matched controls, measuring accuracy and gaze stability during the attentional blink task. ADHD participants reported fewer targets and probes, took longer to recover from the attentional blink, made more eye movements, and made identification errors consistent with non-perception of the letter list. In contrast, errors made by control participants were consistent with guessing (i.e., report of a letter immediately preceding or succeeding the correct letter). Excessive eye movements result in poorer performance for all participants; however, error patterns confirm that the weak performance of ADHD participants may be related to gaze instability as well as to attentional dysfunction.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

PubMed

Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

2011-01-27

Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

Parenting a Child with a Learning Disability: A Qualitative Approach

ERIC Educational Resources Information Center

Fernández-Alcántara, Manuel; Correa-Delgado, Cayetana; Muñoz, Ángela; Salvatierra, María Teresa; Fuentes-Hélices, Tadeo; Laynez-Rubio, Carolina

2017-01-01

The present study describes experiences associated with parenting children diagnosed with learning disabilities. Parents whose children were diagnosed with Attention Deficit Hyperactivity Disorder, dyslexia/language problems, and Asperger syndrome, related to poor performance at school, took part in the study. A qualitative study design was…

Obsessive Compulsive Disorder: What an Educator Needs to Know

ERIC Educational Resources Information Center

Chaturvedi, Amrita; Murdick, Nikki L.; Gartin, Barbara C.

2014-01-01

The presence of obsessive compulsive disorder (OCD) impairs social, emotional and academic functioning. Individuals with OCD may have co-morbid disorders including attention deficit hyperactivity disorder, depression, oppositional defiant disorder, or Tourette syndrome. Challenges occur when students with OCD become a part of the general education…

Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children.

PubMed

Chandrakantan, Arvind; Poulton, Thomas J

2013-01-01

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction is an increasingly common diagnosis in patients who are being seen at tertiary care children's hospitals. We present two cases of anesthetics from the authors' own experience in addition to a comprehensive review of the disorder and anesthetic implications. © 2012 Blackwell Publishing Ltd.

[Pseudo-Bartter syndrome--2 cases].

PubMed

Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

2010-01-01

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

Streptococcal Toxic Shock syndrome.

PubMed

Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

2014-09-01

Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control.

Agraphia of the left hand with dysfunction of the left superior parietal region without callosal lesions.

PubMed

Kinno, Ryuta; Ohashi, Hideaki; Mori, Yukiko; Shiromaru, Azusa; Ono, Kenjiro

2018-03-01

A 28-year-old right-handed man noticed weakness in his legs, three days after an ephedrine overdose. Initial brain magnetic resonance imaging showed lesions in the parietal regions bilaterally. Computed tomography angiography showed segmental and multifocal vasoconstriction of the cerebral arteries. After treatment, clinical and radiological findings resolved, suggesting the patient had reversible cerebral vasoconstriction syndrome with posterior reversible encephalopathy syndrome. However, he had residual agraphia of the left hand. Language testing revealed no difficulties in oral expression, auditory comprehension, understanding of written language, or writing with the right hand. I-123 iodoamphetamine single-photon emission computed tomography showed residual dysfunction in the left superior parietal lobule. There were no apparent signs of other disconnection syndromes or neuroimaging abnormalities in the corpus callosum. We diagnosed left-hand agraphia due to left parietal dysfunction. Our case suggests that left superior parietal dysfunction without callosal lesions is a possible cause of left-hand agraphia. Neural mechanisms for writing with the right or left hand may be separable at the cortical level.

[Depression and frontal dysfunction: risks for the elderly?].

PubMed

Thomas, P; Hazif Thomas, C; Billon, R; Peix, R; Faugeron, P; Clément, J-P

2009-09-01

Frontal lobe syndromes include reduced activity, particularly a diminution of spontaneous activity, lack of drive, inability to plan ahead, and induce a lack of concern. These last points constitute the executive dysfunction syndrome. That executive dysfunction could be the core defect in patients with geriatric or vascular depression, and might be related to frontal-subcortical circuit dysfunction. Sometimes frontal lobe syndromes are associated with restless, aimless, uncoordinated behavior or even disinhibition, increasing the risks of falls and of malnutrition. Some authors have distinguished between lesions of the lateral frontal cortex, most closely linked to the motor structures of the brain, which lead to disturbances of movement and action with perseveration and inertia, and lesions of the orbital and medial areas, interlinked with limbic and reticular systems, damage to which leads to disinhibition and changes of affect. The medial frontal syndrome is marked by akinesia, associated with gait disturbances, and loss of autonomy. For these reasons, it has been proposed that a subtype of depression, "depression-executive dysfunction syndrome" could occur in late life. This assertion was based on clinical, neuropathological, and neuroimaging findings suggesting that frontostriatal dysfunctions contribute to the development of both depression and executive dysfunction and influence the course of depression. Depressive symptomatology, and especially psychomotor retardation and loss of interest in activities, contributed to disability in depression-executive dysfunction syndrome patients. This study is not restricted to major depression. It examined the relationship of executive impairment to the course of depressive symptoms among a psychogeriatric population with dementia or depression in order to assess the consequences of these pathologies on disabilities of aged persons. The study was carried out in Limoges (France) during 2006 and 2007. Three hundred and twenty one psychogeriatric outpatients were included after their written agreement. They were assessed using different scales for autonomy, cognition, depression, frontal impairment and these results were compared with the risk of fall, a possible loss of autonomy and a proteino-energical malnutrition. The statistical study was made using the Systat 11 software. The following tests were used: Student Test, Chi(2) test, and the Manova test, which was adjusted to the duration of the disease, the caregiver's age, his/her education level, and level of cognitive impairment. The regression method used was the multiple linear regression method as well as a descending step-by-step analysis. One hundred and thirty six males (77.3+/-7.09 years old) and 185 females (80.4+/-6.5 years old) were recruited. Patients mainly presented with Alzheimer's disease (n=123) and 65 presented an associated depression, 25 presented vascular dementia, 30 a Lewy bodies dementia, 27 a fronto-temporal dementia. Twenty-seven presented psychosis and 40 a Mild Cognitive Impairment. A control group was composed of 33 persons presumed without psychogeriatric pathologies. Depression associated with an executive dysfunction syndrome increased loss of autonomy, the risk of fall and of malnutrition, especially in the case of cognitive impairment. The multivariate regression analysis step-by-step shows an increasing risk of fall in the presence of a depression-executive dysfunction syndrome. Motivation is altered when the patient is depressed. In demented patients, depression significantly increases behavioral disorders, social and familial relationships, and instrumental acts of daily life. It precipitates the risks of falls and of malnutrition. The principal finding of this study is that geriatric depression is characterized by impaired executive functioning. In the present study, depressed patients also had a greater tendency to fall and to suffer from malnutrition. Executive processes are fundamental to the daily functioning of depressed older adults, and dysfunction may lead to a lack of compensatory strategies that would improve the outcomes of late-life depression or of increasing dependency as well. In demented patients, depression triggers loss of motivation and executive dysfunction as well. Depression and executive dysfunction triggers the loss of autonomy, the risk of fall and of malnutrition in elderly patients. The clinical significance of this study is that the delineation of specific executive in depressed elderly patients may facilitate the development of effective treatment interventions, including treatment for geriatric depression.

Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes

PubMed Central

Loe, Irene M.

2015-01-01

Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and th neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. PMID:25585889

[Circadian rhythm disruption and human development].

PubMed

Kohyama, Jun

2013-12-01

Ontogenetic developments of rest-activity, sleep-wakefulness, temperature and several hormone rhythms in humans were reviewed. The reported effects of environment on these alterations were also summarized. Then, disorders or conditions which often encounter during early stage of life and reveal circadian rhythm disruptions were described. These disorders or conditions included severe brain damage, visual disturbance, developmental disorders(autistic spectrum disorder and attention deficit/hyperactivity disorder), Rett syndrome, Angelman syndrome, Smith-Magenis syndrome, epilepsy, Yonaki, and inadequate sleep hygiene. Finally, it was emphasized that we should pay special attention on the development of youngsters who showed sleep disturbance during early stage of life with special reference to the later occurrence of developmental disorders.

Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide

PubMed Central

Rane, Shruti; McReynolds, Lisa J.; Steppan, Diana A.; Chen, Allen R.; Paz-Priel, Ido

2016-01-01

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality. We describe 2 children who had symptomatic and neuropsychological improvement after high-dose cyclophosphamide treatment. Our experience supports an autoimmune pathogenesis and provides the first neuropsychological profile of patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. PMID:27313069

[Relationship between phthalates and testicular dysgenesis syndrome].

PubMed

Chen, Guo-Rong; Dong, Lei; Ge, Ren-Shan; Hardy, Matthew P

2007-03-01

Recent epidemiological evidence demonstrates that boys born to women exposed to phthalates during pregnancy have an increased incidence of cryptorchidism, hypospadias, testicular cancer and spermatogenic dysfunction, which are collectively referred to as testicular dysgenesis syndrome (TDS). TDS may be attributed to the dysfunction of Leydig cells and Sertoli cells during their differentiation after exposure to phthalates in utero. Fox example, Leydig cell functions are significantly affected by phthalates, leading to the decrease of two Leydig cell products--insulin-like growth factor 3 (INSL3) and testosterone, which are critical factors for testis descent. The disorientation of Leydig cells and Sertoli cells in the adult testis may be the cause of spermatogenic dysfunction.

Transient postpartum diabetes insipidus associated with HELLP syndrome.

PubMed

Ellidokuz, Ender; Uslan, Ihsan; Demir, Serap; Cevrioglu, Serhan; Tufan, Gulnihal

2006-12-01

Diabetes insipidus in pregnancy has different causes. The association of diabetes insipidus with disturbances of liver function has been reported, however, diabetes insipidus has rarely been reported in HELLP syndrome. We present a 23-year-old primigravida with a singleton gestation complicated by HELLP syndrome who developed postpartum diabetes insipidus. Labor was induced promptly to terminate pregnancy because of intrauterine fetal death and liver dysfunction. 1-deamino-8-D-arginine-vasopressin was administered. Diabetes insipidus and liver dysfunction resolved within 2 weeks. Development of diabetes insipidus may result from increased vasopressinase activity mainly caused by deterioration of liver functions caused by HELLP syndrome. In pregnant women with liver disease as a result of any cause, the development of diabetes insipidus should be assessed with particular attention.

The role of platelets and ε-aminocaproic acid in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome associated hemorrhage

PubMed Central

Weyand, Angela C.; Lombel, Rebecca M.; Pipe, Steven W.; Shavit, Jordan A.

2015-01-01

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare disorder associated with platelet abnormalities resembling Gray Platelet Syndrome. Affected patients have normal platelet numbers but abnormal morphology and function. Bleeding symptomatology ranges from post-procedural to spontaneous life-threatening hemorrhage. We report a patient with ARC syndrome and compound heterozygous mutations in VPS33B who presented with significant bleeding requiring numerous admissions and transfusions. She was treated with prophylactic platelet transfusions and ε-aminocaproic acid. This was well tolerated and significantly decreased transfusion requirements and admissions for bleeding. Our experience provides support for consideration of prophylactic measures in these patients as well as the possibility of using prophylaxis in related disorders. PMID:26505894

Pharmacological Management of Cardiorenal Syndromes

PubMed Central

House, Andrew A.; Haapio, Mikko; Lassus, Johan; Bellomo, Rinaldo; Ronco, Claudio

2011-01-01

Cardiorenal syndromes are disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The pharmacological management of Cardiorenal syndromes may be complicated by unanticipated or unintended effects of agents targeting one organ on the other. Hence, a thorough understanding of the pathophysiology of these disorders is paramount. The treatment of cardiovascular diseases and risk factors may affect renal function and modify the progression of renal injury. Likewise, management of renal disease and associated complications can influence heart function or influence cardiovascular risk. In this paper, an overview of pharmacological management of acute and chronic Cardiorenal Syndromes is presented, and the need for high-quality future studies in this field is highlighted. PMID:21660311

Dysfunctions of mitochondria in close association with strong perturbation of long noncoding RNAs expression in down syndrome.

PubMed

Qiu, Jia-Jun; Liu, Yan-Na; Ren, Zhao-Rui; Yan, Jing-Bin

2017-11-01

Trisomy 21 is the most common chromosomal disorder and underlies Down syndrome. Epigenetics, such as DNA methylation and post-translational histone modifications, plays a vital role in Down syndrome. However, the functions of epigenetics-related long noncoding RNAs (lncRNAs), found to have an impact on neural diseases such as Alzheimer's disease, remain unknown in Down syndrome. In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs. Notably, stronger perturbation was shown in the expression of lncRNAs compared to protein coding genes (Kolmogorov-Smirnov test, P<0.05), suggesting that lncRNAs play more important roles in Down syndrome. Through gene set enrichment analysis and bi-clustering, we also found that most of the differential expressed lncRNAs were closely associated with mitochondrial functions (e.g. mitochondrion organization, P=3.21×10 -17 ; mitochondrial ATP synthesis coupled electron transport, P=1.73×10 -19 and mitochondrial membrane organization, P=4.04×10 -8 ). PCR-array and qRT-PCR results revealed that almost all genes related to mitochondria were down-regulated in Down syndrome-iPSCs, implying that mitochondria were dysfunctional in Down syndrome (e.g. ATP5B, Fold Change=-8.2317; COX6A1, Fold Change=-12.7788 and SLC25A17, Fold Change=-22.1296). All in all, our study indicated that a stronger perturbation of lncRNAs expression may lead to the dysfunction of mitochondria in Down syndrome. Copyright © 2017. Published by Elsevier Ltd.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

PubMed

Chow, Cristelle; Fortier, Marielle Valerie; Das, Lena; Menon, Anuradha P; Vasanwala, Rashida; Lam, Joyce C M; Ng, Zhi Min; Ling, Simon Robert; Chan, Derrick W S; Choong, Chew Thye; Liew, Wendy K M; Thomas, Terrence

2015-05-01

Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions. A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation. These features describe the ROHHAD syndrome. Cerebrospinal fluid analysis showed pleocytosis, elevated neopterins, and oligoclonal bands, and serology for systemic and antineuronal antibodies was negative. He improved after receiving intravenous steroids, immunoglobulins, and long-term mycophenolate. Screening for neural crest tumors was negative. Magnetic resonance imaging of the brain early in his illness showed focal inflammation in the periaqueductal gray matter and hypothalamus. This unique localization explains almost all symptoms of this rare autoimmune encephalitis. Copyright © 2015 Elsevier Inc. All rights reserved.

Use of Early Inhaled Nitric Oxide Therapy in Fat Embolism Syndrome to Prevent Right Heart Failure

PubMed Central

Koyfman, Leonid; Kutz, Ruslan; Frenkel, Amit; Gruenbaum, Shaun E.; Zlotnik, Alexander; Klein, Moti

2014-01-01

Fat embolism syndrome (FES) is a life-threatening condition in which multiorgan dysfunction manifests 48–72 hours after long bone or pelvis fractures. Right ventricular (RV) failure, especially in the setting of pulmonary hypertension, is a frequent feature of FES. We report our experience treating 2 young, previously healthy trauma patients who developed severe hypoxemia in the setting of FES. Neither patient had evidence of RV dysfunction on echocardiogram. The patients were treated with inhaled nitric oxide (NO), and their oxygenation significantly improved over the subsequent few days. Neither patient developed any cardiovascular compromise. Patients with FES that have severe hypoxemia and evidence of adult respiratory distress syndrome (ARDS) are likely at risk for developing RV failure. We recommend that these patients with FES and severe refractory hypoxemia should be treated with inhaled NO therapy prior to the onset of RV dysfunction. PMID:25180103

[Epithelial dysfunction associated with pyo-inflammatory diseases of the ENT organs].

PubMed

Petukhova, N A

The modern concept of epithelial-endothelial dysfunction and epithelial-endothelial distress-syndrome associated with pyo-inflammatory ENT diseases is presented. It has provided a basis for the analysis of the initial stages of etiopathogenesis of acute and chronic inflammation in the ENT system including the mucous and associated lymphoid tissues as well as the Pirogov-Waldeyer limphopharyngeal ring making up the first protective barrier. The leading role of dysbiosis of synanthropic microflora and endotoxins of the Gram-negative bacteria in the mechanisms of regional responsiveness of the organism to the infection and chronic endotoxic aggression is demonstrated. The regional and synthetic mechanisms underlying the interaction between the external and internal media of the organism are subjected to the analysis with special reference to those operating in epithelium. The possible variants of the outcome of these processes are considered including both the recovery and the development of chronic inflammation. It has been proved that the exhaustion of the internal reserves for the stabilization of the epithelium-associated lymphoid tissue system including the Pirogov-Waldeyer limphopharyngeal ring leads to the formation of epithelial dysfunction as the initial stage of epithelial-endothelial dysfunction and epithelial-endothelial distress-syndrome. It is concluded that the modern concept of epithelial-endothelial dysfunction and epithelial-endothelial distress-syndrome is a fundamental interdisciplinary phenomenon.

How Parents Cope with Raising Children with Developmental Disorders: A Phenomenological Study

ERIC Educational Resources Information Center

McLurkin, Carol

2012-01-01

A qualitative narrative transcendental-phenomenological study was conducted to explore the lived experiences and coping strategies of parents in California raising children with development disorders (DDs). Twenty parents of children with Prader-Willi syndrome, attention deficit hyperactive disorder, or autism spectrum disorder were interviewed to…

Gifted & Talented Children with Special Educational Needs: Double Exceptionality.

ERIC Educational Resources Information Center

Montgomery, Diane

Based on international research and practice, this text is designed to enable elementary and secondary practitioners to identify able pupils with special needs such as attention deficit hyperactivity disorder, dyspraxia, dyslexia, and Down syndrome, and then make provisions for them within the mainstream school. Following an introduction that…

Blink Rate in Boys with Fragile X Syndrome: Preliminary Evidence for Altered Dopamine Function

ERIC Educational Resources Information Center

Roberts, J. E.; Symons, F. J.; Johnson, A.-M.; Hatton, D. D.; Boccia, M. L.

2005-01-01

Background: Dopamine, a neurotransmitter involved in motor and cognitive functioning, can be non-invasively measured via observation of spontaneous blink rates. Blink rates have been studied in a number of clinical conditions including schizophrenia, autism, Parkinsons, and attention deficit/hyperactivity disorder with results implicating either…

The Nature of Ritalin: A Response to Cooter.

ERIC Educational Resources Information Center

Mick, Lori Bell

1991-01-01

In response to Robert Cooter, Jr. (EC 202 670), who questioned the widespread use of Ritalin with children having attention deficit hyperactivity disorders, this commentary considers four specific points: how Ritalin works, Ritalin's side effects and relationship to Tourette syndrome, the assumption that Ritalin leads to drug abuse, and the…

Neuropathy Target Esterase in Brain Function and Deterioration Caused by Cholinesterase Inhibiting Chemicals

DTIC Science & Technology

2005-08-01

hyperactivity. Invited speaker at 2004 International Meeting for Autism Research – Autism , Genes and Environment Session. Sacramento, California. • Patents...Clinical Findings from Medical Examinations of U.S. Gulf War Veterans Vaccines Linked to Gulf War Syndrome 03.25.03 email to a friend As

Alaska Native Education: Issues in the Nineties. Alaska Native Policy Papers.

ERIC Educational Resources Information Center

Kleinfeld, Judith

This booklet identifies several crucial problems in Alaska Native education, for example: (1) Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) occur in Alaska Native populations at relatively high rates and can produce mental retardation, hyperactivity, attention deficits, and learning disabilities; (2) while many Native rural school…

The ESSENCE in Child Psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations

ERIC Educational Resources Information Center

Gillberg, Christopher

2010-01-01

Co-existence of disorders--including attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorder, developmental coordination disorder, and autism spectrum disorder--and sharing of symptoms across disorders (sometimes referred to as comorbidity) is the rule rather than the exception in child psychiatry and developmental…

Children's Literature & Disability. Resources You Can Use. NICHCY Bibliography 5. Second Edition.

ERIC Educational Resources Information Center

National Information Center for Children and Youth with Disabilities, Washington, DC.

This bibliography of 95 items is intended to help parents and professionals identify books that are written about or include characters with a disability. The list is grouped according to the following disabilities or issues: attention deficit/hyperactivity disorder, autism, Down syndrome, hearing impairment (including deafness, learning…

Nutritional Requirements for Children with Special Needs

ERIC Educational Resources Information Center

Roth, Michael; Drucker, Richard

2008-01-01

In the last few decades, there has been an alarming and disturbing increase in infant and childhood behavioral and physiologic disorders. These include, but are not limited to, attention deficit hyperactivity disorder (ADHD), dyslexia, dyspraxia, autism, cerebral palsy, mental retardation, and Down syndrome to name just a few. The society has…

Inhibitory Performance, Response Speed, Intraindividual Variability, and Response Accuracy in ADHD

ERIC Educational Resources Information Center

De Zeeuw, Patrick; Aarnoudse-Moens, Cornelieke; Bijlhout, Joyce; Konig, Claudia; Uiterweer, Annebeth Post; Papanikolau, Alky; Hoogenraad, Caecilia; Imandt, Lieke; De Been, Debbie; Sergeant, Joseph A.; Oosterlaan, Jaap

2008-01-01

The study aims to investigate the influence of inhibitory performance, response speed, intraindividual variability and response accuracy in distinguishing children from those with Attention-deficit/Hyperactivity (ADHD) syndrome from normal healthy children. The results conclude that there exist large number of differences in the symptoms between…

[PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

PubMed

Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

2016-12-01

Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

Placenta - organ important for fetus and interesting for the rise of the Attention Deficit Hyperactivity Disorder Syndrome - interdisciplinary study.

PubMed

Foltin, Viktor; Foltinova, Janka; Neu, Eva; Morvova, Marcela; Lettrichova, Ivana

2011-01-01

This work is aiming at broadening knowledge about placenta and giving evidence that lead penetrates through transplacental barrier. We have intended to find further possible reasons of the rise of Attention Deficit Hyperactivity Disorder (ADHD) and to suggest ways of preventing development of this syndrome. For revealing presence of lead in placenta and umbilical cord blood we used histochemical methods, scanning and transmission electron microscopy, Energy dispersive spectroscopy (EDS) analysis of element composition and infrared spectroscopy. We are presenting new findings that emphasize importance of Hofbauer cells. These cells have high phagocyting activity and form filter regulating entering lead into umbilical cord blood and thus influence possibility of the ADHD rise. We found positivity on lipids in placenta. Importance of this finding consists in the fact that lead is lipophilic metal and tissue containing lipid is available path for the transport of lead. We explained why just striatum is affected with toxic action of lead in case of ADHD syndrome. We have also shown that more blood elements circulate in umbilical cord blood than in a common circulation. High number of patients with the ADHD syndrome inspired us to suggest establishment of centers where these children would be registered. Staff of specialists consisting of psychologist, physician and physicist (responsible for application of methods of early diagnosis) will take care of the development of their health conditions and further treatment.

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes.

PubMed

Cejas, Ivette; Hoffman, Michael F; Quittner, Alexandra L

2015-01-01

The number of children with hearing loss with additional disabilities receiving cochlear implantation has increased dramatically over the past decade. However, little is known about their auditory and speech and language development following implantation. The purpose of this review is to evaluate the effects of cochlear implantation on the most common genetic and developmental disorders in children with hearing loss. Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. Our review indicates that children with hearing loss and additional disabilities benefit from cochlear implantation, especially when implanted early. Thus, early interventions seem as important for these children as for deaf children without additional disabilities. Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome). In addition, parents of children with hearing loss and additional disabilities report higher levels of parenting stress and greater child behavior problems than those without comorbid diagnoses. However, these parents are as sensitive when interacting with their children as parents with typically developing children using cochlear implantation. Given these results, it is critical to evaluate these children's developmental milestones to provide early implantation and intervention, appropriately counsel families regarding realistic expectations for the implant, and facilitate family adaptation.

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes

PubMed Central

Cejas, Ivette; Hoffman, Michael F; Quittner, Alexandra L

2015-01-01

The number of children with hearing loss with additional disabilities receiving cochlear implantation has increased dramatically over the past decade. However, little is known about their auditory and speech and language development following implantation. The purpose of this review is to evaluate the effects of cochlear implantation on the most common genetic and developmental disorders in children with hearing loss. Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. Our review indicates that children with hearing loss and additional disabilities benefit from cochlear implantation, especially when implanted early. Thus, early interventions seem as important for these children as for deaf children without additional disabilities. Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome). In addition, parents of children with hearing loss and additional disabilities report higher levels of parenting stress and greater child behavior problems than those without comorbid diagnoses. However, these parents are as sensitive when interacting with their children as parents with typically developing children using cochlear implantation. Given these results, it is critical to evaluate these children’s developmental milestones to provide early implantation and intervention, appropriately counsel families regarding realistic expectations for the implant, and facilitate family adaptation. PMID:29388595

[The course of behaviour changes in children with attention deficit and hyperactivity after drug treatment].

PubMed

Roselló, B; Pitarch, I; Abad, L

2002-02-01

Several studies have reported differences in behaviour in patients with various subtypes of attention deficit with hyperactivity and the benefits of psychostimulant medication in the treatment of behaviour problems of patients with the attention deficit hyperactivity syndrome (TDAH). 1. To determine possible differences in behaviour between patients with subtypes of the attention deficit hyperactivity disorder; 2. To analyze the efficacy of methylphenidate on behaviour in three subtypes of TDAH, evaluated on the opinions of patients and teachers. A total of 90 children were studied: 39 children with TDAH-C; 36 with TDAH-1 and 15 with TDAH-H/I. All patients were given 0.5 mg/kg of methylphenidate for a period of three months, once in the morning and once in the afternoon. The results show that the children with the three subtypes of TDAH have significant differences in all the behaviour variables studied except for the variable timidity anxiety, in which no differences were observed between the subtypes of TDAH. Statistical analysis also showed that children with all three subtypes of TDAH improved significantly with regard to most of the aspects of behaviour studied after psychostimulant medication, in the opinions of parents and teachers. Our findings are similar to those of other studies and give fresh data on the behaviour and advantages of methylphenidate in the new subtype included in the DSM-1V, the predominantly hyperactive impulsive type.

Wild-type male offspring of fmr-1+/- mothers exhibit characteristics of the fragile X phenotype.

PubMed

Zupan, Bojana; Toth, Miklos

2008-10-01

Fragile X syndrome is an X-linked disorder caused by the inactivation of the FMR-1 gene with symptoms ranging from impaired cognitive functions to seizures, anxiety, sensory abnormalities, and hyperactivity. Males are more severely affected than heterozygote (H) females, who, as carriers, have a 50% chance of transmitting the mutated allele in each pregnancy. fmr-1 knockout (KO) mice reproduce fragile X symptoms, including hyperactivity, seizures, and abnormal sensory processing. In contrast to the expectation that wild-type (WT) males born to H (fmr-1(+/-)) mothers (H>WT) are behaviorally normal and indistinguishable from WT males born to WT mothers (WT>WT); here, we show that H>WT offspring are more active than WT>WT offspring and that their hyperactivity is similar to male KO mice born to H or KO (fmr-1(-/-)) mothers (H>KO/KO>KO). H>WT mice, however, do not exhibit seizures or abnormal sensory processing. Consistent with their hyperactivity, the effect of the D2 agonist quinpirole is reduced in H>WT as well as in H>KO and KO>KO mice compared to WT>WT offspring, suggesting a diminished feedback inhibition of dopamine release. Our data indicate that some aspects of hyperactivity and associated dopaminergic changes in 'fragile X' mice are a maternal fmr-1 genotype rather than an offspring fmr-1 genotype effect.

Wild-Type Male Offspring of fmr-1+/− Mothers Exhibit Characteristics of the Fragile X Phenotype

PubMed Central

Zupan, Bojana; Toth, Miklos

2009-01-01

Fragile X syndrome is an X-linked disorder caused by the inactivation of the FMR-1 gene with symptoms ranging from impaired cognitive functions to seizures, anxiety, sensory abnormalities, and hyperactivity. Males are more severely affected than heterozygote (H) females, who, as carriers, have a 50% chance of transmitting the mutated allele in each pregnancy. fmr-1 knockout (KO) mice reproduce fragile X symptoms, including hyperactivity, seizures, and abnormal sensory processing. In contrast to the expectation that wild-type (WT) males born to H (fmr-1+/−) mothers (H> WT) are behaviorally normal and indistinguishable from WT males born to WT mothers (WT> WT); here, we show that H> WT offspring are more active than WT> WT offspring and that their hyperactivity is similar to male KO mice born to H or KO (fmr-1−/−) mothers (H> KO/KO> KO). H> WT mice, however, do not exhibit seizures or abnormal sensory processing. Consistent with their hyperactivity, the effect of the D2 agonist quinpirole is reduced in H> WT as well as in H> KO and KO> KO mice compared to WT> WT offspring, suggesting a diminished feedback inhibition of dopamine release. Our data indicate that some aspects of hyperactivity and associated dopaminergic changes in ‘fragile X’ mice are a maternal fmr-1 genotype rather than an offspring fmr-1 genotype effect. PMID:18172434

Polycystic ovarian syndrome management options.

PubMed

Bates, G Wright; Propst, Anthony M

2012-12-01

Polycystic ovarian syndrome (PCOS) is a disorder of androgen excess and ovarian dysfunction. Hirsutism and elevated free testosterone levels are the most consistent signs of the androgen excess. Irregular, infrequent, or absent menses and infertility are symptoms of ovulatory dysfunction. Obesity is also a feature of this syndrome and contributes to associated metabolic abnormalities. Lifestyle modification should be the first treatment and is effective in reducing the signs and symptoms. The ovulatory infertility associated with PCOS can be overcome in most cases with oral (clomiphene citrate or letrozole) or injectable (gonadotropins) agents. Surgical intervention is reserved for cases resistant to medical management. Copyright © 2012 Elsevier Inc. All rights reserved.

beta-Adrenoceptor agonists enhance 5-hydroxytryptamine-mediated behavioural responses.

PubMed Central

Cowen, P. J.; Grahame-Smith, D. G.; Green, A. R.; Heal, D. J.

1982-01-01

The beta-adrenoceptor agonists, salbutamol, terbutaline and clenbuterol, were investigated for their effect on 5-hydroxytryptamine-mediated (5-HT) hyperactivity. 2 The lipophilic beta-adrenoceptor agonist, clenbuterol (5 mg/kg) enhanced the behaviours induced by quipazine (25 mg/kg), including headweaving, forepaw treading and hind-limb abduction and thus increased automated activity recording. Clenbuterol (5 mg/kg) also enhanced the hyperactivity syndrome produced by the 5-HT agonist, 5-methoxy N,N-dimethyltryptamine (2 mg/kg) and the combination of tranylcypromine (10 mg/kg) and L-tryptophan (50 mg/kg). Salbutamol and terbutaline potentiated quipazine-induced hyperactivity only when given at the higher dose of 20 mg/kg. 3 The effect of clenbuterol in enhancing quipazine hyperactivity was blocked by the centrally acting beta 1-adrenoceptor antagonist, metoprolol (5 mg/kg), but not by the beta 2-adrenoceptor antagonist, butoxamine (5 mg/kg) or the peripherally acting beta 1-adrenoceptor antagonist, atenolol (5 mg/kg). 4 Clenbuterol (5 mg/kg) did not enhance the circling responses produced by methamphetamine (0.5 mg/kg) in unilateral nigrostriatal-lesioned rats. 5 The results suggest that beta-adrenoceptor agonists in common with some established antidepressant treatments produce enhancement of 5-HT-mediated behavioural responses. PMID:6124294

Tarsal tunnel syndrome

MedlinePlus

Tibial nerve dysfunction; Neuropathy - posterior tibial nerve; Peripheral neuropathy - tibial nerve; Tibial nerve entrapment ... Tarsal tunnel syndrome is an unusual form of peripheral neuropathy . It occurs when there is damage to the ...

Hypothalamic-pituitary-adrenal axis functioning and dysfunctional attitude in depressed patients with and without childhood neglect.

PubMed

Peng, Hongjun; Long, Ying; Li, Jie; Guo, Yangbo; Wu, Huawang; Yang, YuLing; Ding, Yi; He, Jianfei; Ning, Yuping

2014-02-18

To date, the relationships between childhood neglect, hypothalamic-pituitary-adrenal (HPA) axis functioning and dysfunctional attitude in depressed patients are still obscure. The Childhood Trauma Questionnaire (CTQ) was used to assess childhood emotional neglect and physical neglect. Twenty-eight depressed patients with childhood neglect and 30 depressed patients without childhood neglect from Guangzhou Psychiatric Hospital were compared with 29 age- and gender-matched control subjects without childhood neglect and 22 control subjects with childhood neglect. Cortisol awakening response, the difference between the cortisol concentrations at awakening and 30 minutes later, provided a measure of HPA axis functioning. The Dysfunctional Attitude Scale measured cognitive schema. HPA axis functioning was significantly increased in depressed patients with childhood neglect compared with depressed patients without childhood neglect (p < 0.001). HPA axis activity in the control group with childhood neglect was significantly higher than in the depressed group without childhood neglect (p < 0.001). Total scores of childhood neglect were positively correlated with HPA axis functioning and dysfunctional attitude scores, but not with severity of depression. We did not find correlations with HPA axis functioning and dysfunctional attitude or with the Hamilton Rating Scale for Depression scores. Childhood neglect may cause hyperactivity of the HPA axis functioning and dysfunctional attitude, but does not affect depression severity.

The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.

PubMed

Weyand, Angela C; Lombel, Rebecca M; Pipe, Steven W; Shavit, Jordan A

2016-03-01

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare disorder associated with platelet abnormalities resembling gray platelet syndrome. Affected patients have normal platelet numbers but abnormal morphology and function. Bleeding symptomatology ranges from postprocedural to spontaneous life-threatening hemorrhage. We report a patient with ARC syndrome and compound heterozygous mutations in VPS33B (vacuolar protein sorting 33B) who presented with significant bleeding requiring numerous admissions and transfusions. She was treated with prophylactic platelet transfusions and ε-aminocaproic acid. This was well-tolerated and significantly decreased transfusion requirements and admissions for bleeding. Our experience provides support for consideration of prophylactic measures in these patients as well as the possibility of using prophylaxis in related disorders. © 2015 Wiley Periodicals, Inc.

[Thyroid dysfunction in adults infected by human immunodeficiency virus].

PubMed

Abelleira, Erika; De Cross, Graciela A; Pitoia, Fabián

2014-01-01

Patients infected with human immunodeficiency virus (HIV) have a higher prevalence of thyroid dysfunction when compared with the general population. The most frequently observed manifestations are euthyroid sick syndrome, Graves' disease and subclinical hypothyroidism. The relationship between the use of highly active antiretroviral therapy and the increased prevalence of thyroid dysfunction has been demonstrated in several series of patients. Grave's disease is recognized as a consequence of immune restitution syndrome. Besides, several studies have suggested an association between hypothyroidism and the use of nucleoside reverse transcriptase inhibitors, particularly stavudine and non-nucleoside reverse transcriptase inhibitors such as efavirenz. Further studies could provide additional evidence of the need for routine assessment of thyroid function in HIV-infected patients.

Improved Behavior and Neuropsychological Function in Children With ROHHAD After High-Dose Cyclophosphamide.

PubMed

Jacobson, Lisa A; Rane, Shruti; McReynolds, Lisa J; Steppan, Diana A; Chen, Allen R; Paz-Priel, Ido

2016-07-01

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality. We describe 2 children who had symptomatic and neuropsychological improvement after high-dose cyclophosphamide treatment. Our experience supports an autoimmune pathogenesis and provides the first neuropsychological profile of patients with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. Copyright © 2016 by the American Academy of Pediatrics.

Primary CNS lymphoma as a cause of Korsakoff syndrome.

PubMed

Toth, Cory; Voll, Chris; Macaulay, Robert

2002-01-01

Korsakoff syndrome presents with memory dysfunction with retrograde amnesia, anterograde amnesia, limited insight into dysfunction, and confabulation. The most common etiology of Korsakoff syndrome is thiamine deficiency secondary to alcoholism. There are limited case reports of structural lesions causing Korsakoff syndrome. A 46-year-old male with a long history of alcoholism presented with a history of confusion, amnesia, and confabulation with no localizing features on neurological examination. The patient showed no clinical change with intravenous thiamine. Computed tomography of the brain revealed a heterogenous, enhancing mass lesion centered within the third ventricle, with other lesions found throughout cortical and subcortical regions. The patient was given dexamethasone i.v. without noticeable clinical improvement but with marked radiological improvement with mass reduction. Stereotactic biopsy revealed a diagnosis of primary central nervous system (CNS) lymphoma. Most patients presenting with Korsakoff syndrome have thiamine deficiency; however, mass lesions can produce an identical clinical picture. This is the first case report of a patient with primary CNS lymphoma presenting as Korsakoff syndrome.

[Hand and finger anomalous developmental coordination to write in children with attention deficit/hyperactivity syndrome].

PubMed

Pascual-Castroviejo, I; Lobo-Llorente, A

To present a developmental coordination disorder in children with attention deficit/hyperactivity syndrome (ADHS) characterized by anomalous handwriting posture of hands and fingers. Forty-five children who presented with ADHS were studied (39 males and 6 females) with ages ranging from 6 to 16 years (average 10.8 years) and an analysis of the position of the hands and fingers during handwriting was made within the context of a complete neurological evaluation. Only 2 of the 6 hyperactive patients showed a discrete anomalous posture of the fingers, with normality in the other four patients. Seventeen of the 25 children (68%) with ADHS combined type showed poor posture of the fingers when writing. Among the 14 children with ADHS attention deficit type, 8 had abnormal posture when using a pencil, and 4 had shown the problem several years before consulting, and the problem had disappeared after local orthopedic treatment. All 4 left-handed children (3 females and 1 male) presented abnormal posture of the fingers when writing. Evaluation of the anomalous posture of the fingers when writing of patients with ADHS is a test that we commonly use because it is easy to do, the patients collaborate very well to do it and uncovers very early the developmental coordination disorder. The anomalous posture is associated with other coordination disorders and problems of muscular tone such as splay-foot, genu recurvatum, problems with jumping, walking on one foot, etc. in most patients.

The Epidemiology of Hospital Death Following Pediatric Severe Sepsis: When, Why, and How Children With Sepsis Die.

PubMed

Weiss, Scott L; Balamuth, Fran; Hensley, Josey; Fitzgerald, Julie C; Bush, Jenny; Nadkarni, Vinay M; Thomas, Neal J; Hall, Mark; Muszynski, Jennifer

2017-09-01

The epidemiology of in-hospital death after pediatric sepsis has not been well characterized. We investigated the timing, cause, mode, and attribution of death in children with severe sepsis, hypothesizing that refractory shock leading to early death is rare in the current era. Retrospective observational study. Emergency departments and ICUs at two academic children's hospitals. Seventy-nine patients less than 18 years old treated for severe sepsis/septic shock in 2012-2013 who died prior to hospital discharge. None. Time to death from sepsis recognition, cause and mode of death, and attribution of death to sepsis were determined from medical records. Organ dysfunction was assessed via daily Pediatric Logistic Organ Dysfunction-2 scores for 7 days preceding death with an increase greater than or equal to 5 defined as worsening organ dysfunction. The median time to death was 8 days (interquartile range, 1-12 d) with 25%, 35%, and 49% of cumulative deaths within 1, 3, and 7 days of sepsis recognition, respectively. The most common cause of death was refractory shock (34%), then multiple organ dysfunction syndrome after shock recovery (27%), neurologic injury (19%), single-organ respiratory failure (9%), and nonseptic comorbidity (6%). Early deaths (≤ 3 d) were mostly due to refractory shock in young, previously healthy patients while multiple organ dysfunction syndrome predominated after 3 days. Mode of death was withdrawal in 72%, unsuccessful cardiopulmonary resuscitation in 22%, and irreversible loss of neurologic function in 6%. Ninety percent of deaths were attributable to acute or chronic manifestations of sepsis. Only 23% had a rise in Pediatric Logistic Organ Dysfunction-2 that indicated worsening organ dysfunction. Refractory shock remains a common cause of death in pediatric sepsis, especially for early deaths. Later deaths were mostly attributable to multiple organ dysfunction syndrome, neurologic, and respiratory failure after life-sustaining therapies were limited. A pattern of persistent, rather than worsening, organ dysfunction preceded most deaths.

Relevance of Donepezil in Enhancing Learning and Memory in Special Populations: A Review of the Literature

ERIC Educational Resources Information Center

Yoo, J. Helen; Valdovinos, Maria G.; Williams, Dean C.

2007-01-01

This review discusses the laboratory and clinical research supporting the rationale for the efficacy of donepezil (Aricept[R] USA) in enhancing cognition in autism, Alzheimer disease, Down syndrome, traumatic brain injury, Attention Deficit Hyperactivity Disorder (ADHD), and schizophrenia. While preliminary animal models have shown effective,…

Life-threatening NLRC4-associated hyperinflammation successfully treated with Interleukin-18 inhibition

PubMed Central

Canna, Scott W.; Girard, Charlotte; Malle, Louise; de Jesus, Adriana; Romberg, Neil; Kelsen, Judith; Surrey, Lea F.; Russo, Pierre; Sleight, Andrew; Schiffrin, Eduardo; Gabay, Cem; Goldbach-Mansky, Raphaela; Behrens, Edward M.

2017-01-01

Capsule Summary NLRC4-inflammasome hyperactivity causes infantile-onset Macrophage Activation Syndrome and enterocolitis with extraordinary serum IL-18 elevation (NLRC4-MAS). Herein, we report a critically ill infant with severe, refractory NLRC4-MAS who showed sustained response to treatment with experimental IL-18 inhibition. PMID:27876626

Overcoming Attention Deficit Disorders in Children, Adolescents, and Adults. Fourth Edition

ERIC Educational Resources Information Center

Jordan, Dale R.

2006-01-01

Previously published as "Attention Deficit Disorder: ADHD and ADD Syndromes," this popular book is now in its fourth edition. It provides up-to-date research and more complete explanations of how Attention Deficit Hyperactivity Disorder (ADHD) and Attention Deficit Disorder (ADD) interfere with classroom learning, behavior at home, job…

Cognitive Variability in Adults with ADHD and AS: Disentangling the Roles of Executive Functions and Social Cognition

ERIC Educational Resources Information Center

Gonzalez-Gadea, Maria Luz; Baez, Sandra; Torralva, Teresa; Castellanos, Francisco Xavier; Rattazzi, Alexia; Bein, Victoria; Rogg, Katharina; Manes, Facundo; Ibanez, Agustin

2013-01-01

Attention-deficit/hyperactivity disorder (ADHD) and Asperger's Syndrome (AS) share a heterogeneous cognitive profile. Studies assessing executive functions (EF) and social cognition in both groups have found preserved and impaired performances. These inconsistent findings would be partially explained by the cognitive variability reported in these…

Art Therapy with a Child Experiencing Sensory Integration Difficulty. Brief Report

ERIC Educational Resources Information Center

Kearns, Diane

2004-01-01

An increasing number of students diagnosed with difficulties such as attention deficit hyperactivity disorder and Asperger?s syndrome are being seen in schools. Sensory integration difficulties may be part of the symptomatology of these disorders. These difficulties may result in difficulties with both classroom behaviors and academic performance.…

Hippity Hops Velcroed to the Floor and Other Strategies to Educate Kids with FAS or FAE.

ERIC Educational Resources Information Center

Wescott, Siobhan

1991-01-01

Children with fetal alcohol syndrome may exhibit hyperactivity, hypersensitivity to touch, attention deficit disorder, stimulus overload, or an overtrusting nature. Educational strategies include consistent routines, multisensory cues to prompt memory, problem-solving training to recognize options, and emphasis on social skills and daily living…

The effect of methylphenidate on anxiety and depression symptoms in patients with Asperger syndrome and comorbid attention deficit/hyperactivity disorder.

PubMed

Golubchik, Pavel; Rapaport, Michal; Weizman, Abraham

2017-09-01

The objective of this study was to assess the response of anxiety and depression symptoms to methylphenidate (MPH) treatment in patients with Asperger syndrome (AS) combined with attention deficit/hyperactivity disorder (ADHD). A group of 12 patients with AS/ADHD, aged 8-18 years, received 12 weeks of MPH treatment. The severities of ADHD, anxiety, and depression symptoms were assessed by means of the ADHD Rating Scale (ADHD-RS), Screen for Child Anxiety Related Emotional Disorders, and the Children's Depression Inventory. The severity of ADHD and depression symptoms was reduced significantly (P<0.0003 and P=0.046, respectively). No improvement in total anxiety symptoms was found, but a significant reduction was obtained in the school-related subscale of the Screen for Child Anxiety Related Emotional Disorders (P=0.0054). A positive correlation was found between the reductions in ADHD-RS and Children's Depression Inventory scores (r=0.59, P=0.039). MPH treatment may be safe, tolerable, and effective in alleviating depression and school-related anxiety symptoms in patients with AS and ADHD.

Pelvic Muscle Rehabilitation: A Standardized Protocol for Pelvic Floor Dysfunction

PubMed Central

Pedraza, Rodrigo; Nieto, Javier; Ibarra, Sergio; Haas, Eric M.

2014-01-01

Introduction. Pelvic floor dysfunction syndromes present with voiding, sexual, and anorectal disturbances, which may be associated with one another, resulting in complex presentation. Thus, an integrated diagnosis and management approach may be required. Pelvic muscle rehabilitation (PMR) is a noninvasive modality involving cognitive reeducation, modification, and retraining of the pelvic floor and associated musculature. We describe our standardized PMR protocol for the management of pelvic floor dysfunction syndromes. Pelvic Muscle Rehabilitation Program. The diagnostic assessment includes electromyography and manometry analyzed in 4 phases: (1) initial baseline phase; (2) rapid contraction phase; (3) tonic contraction and endurance phase; and (4) late baseline phase. This evaluation is performed at the onset of every session. PMR management consists of 6 possible therapeutic modalities, employed depending on the diagnostic evaluation: (1) down-training; (2) accessory muscle isolation; (3) discrimination training; (4) muscle strengthening; (5) endurance training; and (6) electrical stimulation. Eight to ten sessions are performed at one-week intervals with integration of home exercises and lifestyle modifications. Conclusions. The PMR protocol offers a standardized approach to diagnose and manage pelvic floor dysfunction syndromes with potential advantages over traditional biofeedback, involving additional interventions and a continuous pelvic floor assessment with management modifications over the clinical course. PMID:25006337

[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome].

PubMed

von Schnakenburg, C; Hufnagel, M; Superti-Furga, A; Rieger-Fackeldey, E; Berner, R

2009-01-01

Group B streptococcal early-onset sepsis (GBS EOS) in neonates has a mortality rate of approximately 5%, particularly in the presence of multi-organ dysfunction. Fluid management is crucial in these patients, and continuous venovenous haemofiltration (CVVH) should be considered a therapeutic option even in newborn babies. After an uneventful pregnancy within hours after birth, a female term infant presented with dyspnoea, irritability and cyanosis. The systemic inflammatory response syndrome (SIRS) progressed to multi-organ dysfunction with acute respiratory distress syndrome (ARDS), impaired myocardial contractility, pulmonary hypertension and fluid overload. The maximum PRISM score was 51. The child required maximal respiratory and inotropic support with high volume intravenous fluid administration. However, only by using of CVVH from day 5 to 14, we successfully resolved progressive pulmonary and cardiovascular dysfunction. The child improved directly after initiation of fluid removal, was extubated on day 17 and discharged without obvious sequelae on day 57. All microbiology studies revealed GBS. Perinatal GBS-infections remain a major life-threatening event for newborn babies. CVVH should be considered an option for reversing fluid overload even in neonates with overwhelming SIRS. Alternatively, extracorporeal membrane oxygenation (ECMO) is discussed.

Sleep disturbances in children with attention-deficit/hyperactivity disorder

PubMed Central

Spruyt, Karen; Gozal, David

2011-01-01

In this article, we advocate the need for better understanding and treatment of children exhibiting inattentive, hyperactive, impulsive behaviors, by in-depth questioning on sleepiness, sleep-disordered breathing or problematic behaviors at bedtime, during the night and upon awakening, as well as night-to-night sleep duration variability. The relationships between sleep and attention-deficit/hyperactivity disorder (ADHD) are complex and are routinely overlooked by practitioners. Motricity and somnolence, the most consistent complaints and objectively measured sleep problems in children with ADHD, may develop as a consequence of multidirectional and multifactorial pathways. Therefore, subjectively perceived or reported restless sleep should be evaluated with specific attention to restless legs syndrome or periodic limb movement disorder, and awakenings should be queried with regard to parasomnias, dyssomnias and sleep-disordered breathing. Sleep hygiene logs detailing sleep onset and offset quantitatively, as well as qualitatively, are required. More studies in children with ADHD are needed to reveal the 24-h phenotype, or its sleep comorbidities. PMID:21469929

Attention Deficit Hyperactivity Disorder (ADHD): Controversy, Developmental Mechanisms, and Multiple Levels of Analysis.

PubMed

Hinshaw, Stephen P

2018-05-07

Controversy abounds regarding the symptom dimensions of attention problems, impulsivity, and hyperactivity, developmentally extreme and impairing levels of which compose the diagnostic category of attention deficit hyperactivity disorder (ADHD). I highlight causal factors, underlying mechanisms, developmental trajectories, and female manifestations of ADHD, integrating the psychobiological underpinnings of this syndrome with contextual factors related to its clinical presentation, impairments, and soaring increases in diagnosed prevalence. Indeed, despite strong heritability, ADHD is expressed via transactional patterns of influence linked to family-, school-, peer-, neighborhood-, and policy-related factors. Moreover, intervention strategies must take into account both pharmacologic and behavioral modalities if the goal is to enhance competencies, rather than symptom reduction per se. A comprehensive understanding of ADHD mandates multiple levels of analysis-spanning genes, neurotransmission, brain pathways, individual skill levels, family socialization, peer relationships, and educational and cultural forces-which must be integrated and synthesized to surpass reductionist accounts, reduce stigma, and maximize the impact of prevention- and intervention-related efforts.

Relationships between symptomatology and SES-related factors in hyperkinetic/MBD boys.

PubMed

Paternite, C E; Loney, J; Langhorne, J E

1976-04-01

Relationships among symptomatology, socioeconomic status, and parenting styles were examined for 113 hyperkinetic/minimal brain dysfunction boys from intact families. Primary symptoms (e.g. hyperactivity) did not vary as a function of SES, but SES-related differences emerged for secondary symptoms (e.g., aggressive behavior, self-esteem deficits) and for parenting variables. Parenting variables were found to be better predictors of secondary symptoms than was SES. Implications for further research are offered.

Fat embolism syndrome in a patient demonstrating only neurologic symptoms

PubMed Central

Bardana, David; Rudan, John; Cervenko, Frank; Smith, Roger

1998-01-01

Fat embolism syndrome (FES) is a recognized complication of both long bone fractures and intramedullary orthopedic procedures. The usual presenting features are respiratory failure, neurologic dysfunction and petechiae. In this report, a 25-year-old woman with FES presented with serious neurologic symptoms and signs in the absence of respiratory dysfunction. The diagnosis is essentially a clinical one, but nuclear magnetic resonance imaging of the brain revealed distinctive lesions that may help future diagnosis of FES. PMID:9793509

Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes.

PubMed

Wusthoff, Courtney J; Loe, Irene M

2015-02-01

Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and the neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. Copyright © 2014 Elsevier Ltd. All rights reserved.

Management of patients with rectocele, multiple pelvic floor dysfunctions and obstructed defecation syndrome.

PubMed

Murad-Regadas, Sthela Maria; Regadas, Francisco Sergio P; Rodrigues, Lusmar Veras; Fernandes, Graziela Olivia da Silva; Buchen, Guilherme; Kenmoti, Viviane T

2012-01-01

Management of patients with obstructed defecation syndrome is still controversial. To analyze the efficacy of clinical, clinical treatment followed by biofeedback, and surgical treatment in patients with obstructed defecation, rectocele and multiple dysfunctions evaluated with echodefecography. The study included 103 females aged 26-84 years with obstructed defecation, grade-II/III rectocele and multiple dysfunctions on echodefecography. Patients were distributed into three treatment groups and constipation scores were assigned. Group I: 34 (33%) patients with significant improvement of symptoms through clinical management only. Group II: 14 (14%) with improvement through clinical treatment plus biofeedback. Group III: 55 (53%) referred to surgery due to treatment failure. Group I: 20 (59%) patients had grade-II rectocele, 14 (41%) grade-III. Obstructed defecation syndrome was associated with intussusception (41%), mucosal prolapse (41%), anismus (29%), enterocele (9%) or 2 dysfunctions (23%). The average constipation score decreased significantly from 11 to 5. Group II: 11 (79%) grade-II rectocele, 3 (21%) grade-III, associated with intussusception (7%), mucosal prolapse (43%), anismus (71%) or 2 dysfunctions (29%). There was significant decrease in constipation score from 13 to 6. Group III: 8 (15%) grade-II rectocele, 47 (85%) grade-III, associated with intussusception (42%), mucosal prolapse (40%) or 2 dysfunctions (32%). The constipation score remained unchanged despite clinical treatment and biofeedback. Twenty-three underwent surgery had a significantly decrease in constipation score from 12 to 4. The remaining 32 (31%) patients which 22 refused surgery, 6 had low anal pressure and 4 had slow transit. Approximately 50% of patients with obstructed defecation, rectocele and multiple dysfunctions presented a satisfactory response to clinical treatment and/or biofeedback. Surgical repair was mainly required in patients with grade-III rectocele whose constipation scores remained high despite all efforts.

Takotsubo-like Myocardial Dysfunction in a Patient with Botulism.

PubMed

Tonomura, Shuichi; Kakehi, Yoshiaki; Sato, Masatoshi; Naito, Yuki; Shimizu, Hisao; Goto, Yasunobu; Takahashi, Nobuyuki

2017-11-01

Botulinum toxin A (BTXA) can disrupt the neuromuscular and autonomic functions. We herein report a case of autonomic system dysfunction that manifested as Takotsubo-like myocardial dysfunction in a patient with botulism. Takotsubo syndrome results in acute cardiac insufficiency, another fatal complication of botulism in addition to respiratory muscle paralysis, particularly in patients with cardiovascular disease.

Takotsubo-like Myocardial Dysfunction in a Patient with Botulism

PubMed Central

Tonomura, Shuichi; Kakehi, Yoshiaki; Sato, Masatoshi; Naito, Yuki; Shimizu, Hisao; Goto, Yasunobu; Takahashi, Nobuyuki

2017-01-01

Botulinum toxin A (BTXA) can disrupt the neuromuscular and autonomic functions. We herein report a case of autonomic system dysfunction that manifested as Takotsubo-like myocardial dysfunction in a patient with botulism. Takotsubo syndrome results in acute cardiac insufficiency, another fatal complication of botulism in addition to respiratory muscle paralysis, particularly in patients with cardiovascular disease. PMID:28924131

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

PubMed

Tsukahara, M; Opitz, J M

1996-05-03

We review clinical information on 141 individuals with Dubowitz syndrome, 105 reported since 1965, and 36 previously unreported. We define the Dubowitz syndrome phenotype on the basis of clinical descriptions. The facial appearance is characteristic and present in most patients with Dubowitz syndrome. The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe growth retardation, mental retardation, microcephaly, and eczema. Overall, the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, hematological, and immune systems. Characteristic behavior patterns which have not been cited previously are present in our cases; most patients are hyperactive, shy, hate crowds, and like music, rhythm, and vibrations from music speakers, tape recorders, or transmitted through floors. Dubowitz syndrome is an autosomal recessive disorder with possibly increased frequency of parental consanguinity. Heterogeneity cannot be excluded at this time.

Emergency management of fat embolism syndrome

PubMed Central

Shaikh, Nissar

2009-01-01

Fat emboli occur in all patients with long-bone fractures, but only few patients develop systemic dysfunction, particularly the triad of skin, brain, and lung dysfunction known as the fat embolism syndrome (FES). Here we review the FES literature under different subheadings. The incidence of FES varies from 1–29%. The etiology may be traumatic or, rarely, nontraumatic. Various factors increase the incidence of FES. Mechanical and biochemical theories have been proposed for the pathophysiology of FES. The clinical manifestations include respiratory and cerebral dysfunction and a petechial rash. Diagnosis of FES is difficult. The other causes for the above-mentioned organ dysfunction have to be excluded. The clinical criteria along with imaging studies help in diagnosis. FES can be detected early by continuous pulse oximetry in high-risk patients. Treatment of FES is essentially supportive. Medications, including steroids, heparin, alcohol, and dextran, have been found to be ineffective. PMID:19561953

Attentional Lapses of Adults with Attention Deficit Hyperactivity Disorder in Tasks of Sustained Attention.

PubMed

Gmehlin, Dennis; Fuermaier, Anselm B M; Walther, Stephan; Tucha, Lara; Koerts, Janneke; Lange, Klaus W; Tucha, Oliver; Weisbrod, Matthias; Aschenbrenner, Steffen

2016-06-01

Adults with attention deficit hyperactivity disorder (ADHD) show attentional dysfunction such as distractibility and mind-wandering, especially in lengthy tasks. However, fundamentals of dysfunction are ambiguous and relationships of neuropsychological test parameters with self-report measures of ADHD symptoms are marginal. We hypothesize that basic deficits in sustaining attention explain more complex attentional dysfunction in persons with ADHD and relate to ADHD symptoms. Attentional function was analyzed by computing ex-Gaussian parameters for 3 time Blocks in a 20 min test of sustained alertness. Changes in performance across these blocks were analyzed by comparing adult persons with ADHD (n = 24) with healthy matched controls (n = 24) and correlated with neuropsychological measures of selective and divided attention as well as self-report measures of ADHD symptoms. We found a significantly steeper increase in the number of slow responses (ex-Gaussian parameter τ) in persons with ADHD with time on task in basic sustained alertness. They also performed significantly worse in tasks of sustained selective and divided attention. However, after controlling for an increase in τ during the alertness task, significant differences between groups disappeared for divided and partly selective attention. Increases in τ in the sustained alertness task correlated significantly with self-report measures of ADHD symptoms. Our results provide evidence that very basic deficits in sustaining attention in adults with ADHD are related to infrequent slow responses (=attentional lapses), with changes over time being relevant for more complex attentional function and experienced ADHD symptoms in everyday life. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Co-segregation of hyperactivity, active coping styles, and cognitive dysfunction in mice selectively bred for low levels of anxiety.

PubMed

Yen, Yi-Chun; Anderzhanova, Elmira; Bunck, Mirjam; Schuller, Julia; Landgraf, Rainer; Wotjak, Carsten T

2013-01-01

We established mouse models of extremes in trait anxiety, which are based on selective breeding for low vs. normal vs. high open-arm exploration on the elevated plus-maze. Genetically selected low anxiety-related behavior (LAB) coincided with hyperactivity in the home cage. Given the fact that several psychiatric disorders such as schizophrenia, mania, and attention deficit hyperactivity disorder (ADHD) share hyperactivity symptom, we systematically examined LAB mice with respect to unique and overlapping endophenotypes of the three diseases. To this end Venn diagrams were used as an instrument for discrimination of possible models. We arranged the endophenotypes in Venn diagrams and translated them into different behavioral tests. LAB mice showed elevated levels of locomotion in the open field (OF) test with deficits in habituation, compared to mice bred for normal (NAB) and high anxiety-related behavior (HAB). Cross-breeding of hypoactive HAB and hyperactive LAB mice resulted in offspring showing a low level of locomotion comparable to HAB mice, indicating that the HAB alleles are dominant over LAB alleles in determining the level of locomotion. In a holeboard test, LAB mice spent less time in hole exploration, as shown in patients with schizophrenia and ADHD; however, LAB mice displayed no impairments in social interaction and prepulse inhibition (PPI), implying a unlikelihood of LAB as an animal model of schizophrenia. Although LAB mice displayed hyperarousal, active coping styles, and cognitive deficits, symptoms shared by mania and ADHD, they failed to reveal the classic manic endophenotypes, such as increased hedonia and object interaction. The neuroleptic haloperidol reduced locomotor activity in all mouse lines. The mood stabilizer lithium and the psychostimulant amphetamine, in contrast, selectively reduced hyperactivity in LAB mice. Based on the behavioral and pharmacological profiles, LAB mice are suggested as a novel rodent model of ADHD-like symptoms.

Co-segregation of hyperactivity, active coping styles, and cognitive dysfunction in mice selectively bred for low levels of anxiety

PubMed Central

Yen, Yi-Chun; Anderzhanova, Elmira; Bunck, Mirjam; Schuller, Julia; Landgraf, Rainer; Wotjak, Carsten T.

2013-01-01

We established mouse models of extremes in trait anxiety, which are based on selective breeding for low vs. normal vs. high open-arm exploration on the elevated plus-maze. Genetically selected low anxiety-related behavior (LAB) coincided with hyperactivity in the home cage. Given the fact that several psychiatric disorders such as schizophrenia, mania, and attention deficit hyperactivity disorder (ADHD) share hyperactivity symptom, we systematically examined LAB mice with respect to unique and overlapping endophenotypes of the three diseases. To this end Venn diagrams were used as an instrument for discrimination of possible models. We arranged the endophenotypes in Venn diagrams and translated them into different behavioral tests. LAB mice showed elevated levels of locomotion in the open field (OF) test with deficits in habituation, compared to mice bred for normal (NAB) and high anxiety-related behavior (HAB). Cross-breeding of hypoactive HAB and hyperactive LAB mice resulted in offspring showing a low level of locomotion comparable to HAB mice, indicating that the HAB alleles are dominant over LAB alleles in determining the level of locomotion. In a holeboard test, LAB mice spent less time in hole exploration, as shown in patients with schizophrenia and ADHD; however, LAB mice displayed no impairments in social interaction and prepulse inhibition (PPI), implying a unlikelihood of LAB as an animal model of schizophrenia. Although LAB mice displayed hyperarousal, active coping styles, and cognitive deficits, symptoms shared by mania and ADHD, they failed to reveal the classic manic endophenotypes, such as increased hedonia and object interaction. The neuroleptic haloperidol reduced locomotor activity in all mouse lines. The mood stabilizer lithium and the psychostimulant amphetamine, in contrast, selectively reduced hyperactivity in LAB mice. Based on the behavioral and pharmacological profiles, LAB mice are suggested as a novel rodent model of ADHD-like symptoms. PMID:23966915

Radioactive Iodine-131 as a Definitive Treatment in Rare Association of Down Syndrome With Hyperthyroidism: A Case Report and Review of Literature

PubMed Central

Khan, Shoukat H.; Mahajan, Aditya; Rather, Tanveer A.

2017-01-01

Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves’ disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis. PMID:28242979

Review of Prader-Willi syndrome: the endocrine approach

PubMed Central

Heksch, Ryan; Kamboj, Manmohan; Anglin, Kathryn

2017-01-01

Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM). In this paper, we will review the current literature pertaining to the endocrine concerns of PWS and current recommendations for screening and management of these conditions. PMID:29184809

Molecular mechanisms underlying neurodevelopmental disorders, ADHD and autism.

PubMed

Bădescu, George Mihai; Fîlfan, Mădălina; Sandu, Raluca Elena; Surugiu, Roxana; Ciobanu, Ovidiu; Popa-Wagner, Aurel

2016-01-01

Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADHD), mood disorders, substance use disorders and obesity each increase the risk for mortality. However, data about comorbidity is mainly descriptive, with mechanistic studies limited to genetic epidemiological studies that document shared genetic risk factors among these conditions. Autism and intellectual disability affects 1.5 to 2% of the population in Western countries with many individuals displaying social-emotional agnosia and having difficulty in forming attachments and relationships. Underlying mechanisms include: (i) dysfunctions of neuronal miRNAs; (ii) deletions in the chromosome 21, subtelomeric deletions, duplications and a maternally inherited duplication of the chromosomal region 15q11-q13; (iii) microdeletions in on the long (q) arm of the chromosome in a region designated q21.1 increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems associated with autism, schizophrenia, and epilepsy and weak muscle tone (hypotonia); (iv) interstitial duplications encompassing 16p13.11.

Neuroendocrinology and brain imaging of reward in eating disorders: A possible key to the treatment of anorexia nervosa and bulimia nervosa.

PubMed

Monteleone, Alessio Maria; Castellini, Giovanni; Volpe, Umberto; Ricca, Valdo; Lelli, Lorenzo; Monteleone, Palmiero; Maj, Mario

2018-01-03

Anorexia nervosa and bulimia nervosa are severe eating disorders whose etiopathogenesis is still unknown. Clinical features suggest that eating disorders may develop as reward-dependent syndromes, since eating less food is perceived as rewarding in anorexia nervosa while consumption of large amounts of food during binge episodes in bulimia nervosa aims at reducing the patient's negative emotional states. Therefore, brain reward mechanisms have been a major focus of research in the attempt to contribute to the comprehension of the pathophysiology of these disorders. Structural brain imaging data provided the evidence that brain reward circuits may be altered in patients with anorexia or bulimia nervosa. Similarly, functional brain imaging studies exploring the activation of brain reward circuits by food stimuli as well as by stimuli recognized to be potentially rewarding for eating disordered patients, such as body image cues or stimuli related to food deprivation and physical hyperactivity, showed several dysfunctions in ED patients. Moreover, very recently, it has been demonstrated that some of the biochemical homeostatic modulators of eating behavior are also implicated in the regulation of food-related and non-food-related reward, representing a possible link between the aberrant behaviors of ED subjects and their hypothesized deranged reward processes. In particular, changes in leptin and ghrelin occur in patients with anorexia or bulimia nervosa and have been suggested to represent not only homeostatic adaptations to an altered energy balance but to contribute also to the acquisition and/or maintenance of persistent starvation, binge eating and physical hyperactivity, which are potentially rewarding for ED patients. On the basis of such findings new pathogenetic models of EDs have been proposed, and these models may provide new theoretical basis for the development of innovative treatment strategies, either psychological and pharmacological, with the aim to improve the outcomes of so severe disabling disorders. Copyright © 2017 Elsevier Inc. All rights reserved.

Acute hypertriglyceridemia induces platelet hyperactivity that is not attenuated by insulin in polycystic ovary syndrome.

PubMed

Aye, Myint Myint; Kilpatrick, Eric S; Aburima, Ahmed; Wraith, Katie S; Magwenzi, Simbarashe; Spurgeon, B; Rigby, Alan S; Sandeman, Derek; Naseem, Khalid M; Atkin, Stephen L

2014-02-28

Atherothrombosis is associated with platelet hyperactivity. Hypertriglyceridemia and insulin resistance (IR) are features of polycystic ovary syndrome (PCOS). The effect of induced hypertriglyceridemia on IR and platelet function was examined in young women with PCOS. Following overnight fasting, 13 PCOS and 12 healthy women were infused with saline or 20% intralipid for 5 hours on separate days. Insulin sensitivity was measured using a hyperinsulinemic euglycaemic clamp in the final 2 hours of each infusion. Platelet responses to adenosine diphosphate (ADP) and prostacyclin (PGI2) were measured by flow cytometric analysis of platelet fibrinogen binding and P-selectin expression using whole blood taken during each infusion (at 2 hours) and at the end of each clamp. Lipid infusion increased triglycerides and reduced insulin sensitivity in both controls (median, interquartile range ) (5.25 [3.3, 6.48] versus 2.60 [0.88, 3.88] mg kg(-1) min(-1), P<0.001) and PCOS (3.15 [2.94, 3.85] versus 1.06 [0.72, 1.43] mg kg(-1) min(-1), P<0.001). Platelet activation by ADP was enhanced and ability to suppress platelet activation by PGI2 diminished during lipid infusion in both groups when compared to saline. Importantly, insulin infusion decreased lipid-induced platelet hyperactivity by decreasing their response to 1 μmol/L ADP (78.7% [67.9, 82.3] versus 62.8% [51.8, 73.3], P=0.02) and increasing sensitivity to 0.01 μmol/L PGI2 (67.6% [39.5, 83.8] versus 40.9% [23.8, 60.9], P=0.01) in controls, but not in PCOS. Acute hypertriglyceridemia induced IR, and increased platelet activation in both groups that was not reversed by insulin in PCOS subjects compared to controls. This suggests that platelet hyperactivity induced by acute hypertriglyceridemia and IR could contribute athero-thrombotic risk. www.isrctn.org. Unique Identifier: ISRCTN42448814.

Acute Hypertriglyceridemia Induces Platelet Hyperactivity That is Not Attenuated by Insulin in Polycystic Ovary Syndrome

PubMed Central

Aye, Myint Myint; Kilpatrick, Eric S.; Aburima, Ahmed; Wraith, Katie S.; Magwenzi, Simbarashe; Spurgeon, B.; Rigby, Alan S.; Sandeman, Derek; Naseem, Khalid M.; Atkin, Stephen L.

2014-01-01

Background Atherothrombosis is associated with platelet hyperactivity. Hypertriglyceridemia and insulin resistance (IR) are features of polycystic ovary syndrome (PCOS). The effect of induced hypertriglyceridemia on IR and platelet function was examined in young women with PCOS. Methods and Results Following overnight fasting, 13 PCOS and 12 healthy women were infused with saline or 20% intralipid for 5 hours on separate days. Insulin sensitivity was measured using a hyperinsulinemic euglycaemic clamp in the final 2 hours of each infusion. Platelet responses to adenosine diphosphate (ADP) and prostacyclin (PGI2) were measured by flow cytometric analysis of platelet fibrinogen binding and P‐selectin expression using whole blood taken during each infusion (at 2 hours) and at the end of each clamp. Lipid infusion increased triglycerides and reduced insulin sensitivity in both controls (median, interquartile range ) (5.25 [3.3, 6.48] versus 2.60 [0.88, 3.88] mg kg−1 min−1, P<0.001) and PCOS (3.15 [2.94, 3.85] versus 1.06 [0.72, 1.43] mg kg−1 min−1, P<0.001). Platelet activation by ADP was enhanced and ability to suppress platelet activation by PGI2 diminished during lipid infusion in both groups when compared to saline. Importantly, insulin infusion decreased lipid‐induced platelet hyperactivity by decreasing their response to 1 μmol/L ADP (78.7% [67.9, 82.3] versus 62.8% [51.8, 73.3], P=0.02) and increasing sensitivity to 0.01 μmol/L PGI2 (67.6% [39.5, 83.8] versus 40.9% [23.8, 60.9], P=0.01) in controls, but not in PCOS. Conclusion Acute hypertriglyceridemia induced IR, and increased platelet activation in both groups that was not reversed by insulin in PCOS subjects compared to controls. This suggests that platelet hyperactivity induced by acute hypertriglyceridemia and IR could contribute athero‐thrombotic risk. Clinical Trial Registration URL: www.isrctn.org. Unique Identifier: ISRCTN42448814. PMID:24584741

Cholinergic autonomic dysfunction in veterans with Gulf War illness: confirmation in a population-based sample.

PubMed

Haley, Robert W; Charuvastra, Elizabeth; Shell, William E; Buhner, David M; Marshall, W Wesley; Biggs, Melanie M; Hopkins, Steve C; Wolfe, Gil I; Vernino, Steven

2013-02-01

The authors of prior small studies raised the hypothesis that symptoms in veterans of the 1991 Gulf War, such as chronic diarrhea, dizziness, fatigue, and sexual dysfunction, are due to cholinergic autonomic dysfunction. To perform a confirmatory test of this prestated hypothesis in a larger, representative sample of Gulf War veterans. Nested case-control study. Clinical and Translational Research Center, University of Texas Southwestern Medical Center, Dallas. Representative samples of Gulf War veterans meeting a validated case definition of Gulf War illness with 3 variants (called syndromes 1-3) and a control group, all selected randomly from the US Military Health Survey. Validated domain scales from the Autonomic Symptom Profile questionnaire, the Composite Autonomic Severity Score, and high-frequency heart rate variability from a 24-hour electrocardiogram. The Autonomic Symptom Profile scales were significantly elevated in all 3 syndrome groups (P< .001), primarily due to elevation of the orthostatic intolerance, secretomotor, upper gastrointestinal dysmotility, sleep dysfunction, urinary, and autonomic diarrhea symptom domains. The Composite Autonomic Severity Score was also higher in the 3 syndrome groups (P= .045), especially in syndrome 2, primarily due to a significant reduction in sudomotor function as measured by the Quantitative Sudomotor Axon Reflex Test, most significantly in the foot; the score was intermediate in the ankle and upper leg and was nonsignificant in the arm, indicating a peripheral nerve length-related deficit. The normal increase in high-frequency heart rate variability at night was absent or blunted in all 3 syndrome groups (P< .001). Autonomic symptoms are associated with objective, predominantly cholinergic autonomic deficits in the population of Gulf War veterans.

[Homogeneous spinal-shortening axial decompression procedure for tethered cord syndrome].

PubMed

Wang, Haibo; Sun, Jingchuan; Wang, Yuan; Wu, Zhao; Xu, Tao; Chen, Kefu; Shi, Guodong; Yuan, Wen; Jia, Lianshun; Shi, Jiangang

2015-06-16

Surgical detethering is a traditional treatment for symptomatic tethered cord syndrome. However, such complications as cerebrospinal fluid leakage and neurologic deterioration are common. Homogeneous spinal-shortening axial decompression (HSAD) is a modified procedure of monosegmental spinal-shortening osteotomy and it is a novel surgical alternative of reducing neural tension indirectly. The objective was to evaluate the surgical outcomes of HSAD for tethered cord syndrome. The surgical outcomes were examined for 15 consecutive patients with tethered cord syndrome undergoing HSAD from April 2010 to July 2014. Improvements of neurological symptoms including urinary dysfunction, lower-extremity motor and sensory disturbances and/or gait abnormalities, low-back and/or lower-extremity pain, bowel incontinence and sexual dysfunction were evaluated. Their average follow-up period was 21.5 months. The length of spinal column shortening was 17.2 ± 2.9 mm. Urinary dysfunction (n = 9) was the most common residual deficit. All 9 patients with urological symptoms reported improvements, although deficits persisted at the last follow-up. All patients with lower-extremity motor dysfunction improved and 4 (50.0%) noted complete resolution of preoperative lower-extremity sensory symptoms. All patients reported immediate low-back or lower-extremity pain relief after HSAD. One patient reported improved sexual functioning and regained complete erectile capabilities. Two patients (11%) experienced less satisfactory symptomatic or functional benefit from HSAD. However, the main objective of surgery was to prevent further worsening of neurological status. Complete bone union at osteotomy site was noted in all cases at the last follow-up. As a novel surgical option for tethered cord syndrome, HSAD may avoid such complications as cerebrospinal fluid leakage or neurologic deterioration commonly encountered during traditional detethering surgery. All patients gain satisfactory functional outcomes without complications compared to their preoperative symptoms.

Analysis of structural relationship among the occupational dysfunction on the psychological problem in healthcare workers: a study using structural equation modeling

PubMed Central

Kyougoku, Makoto

2015-01-01

Purpose. The purpose of this study is to demonstrate the hypothetical model based on structural relationship with the occupational dysfunction on psychological problems (stress response, burnout syndrome, and depression) in healthcare workers. Method. Three cross sectional studies were conducted to assess the following relations: (1) occupational dysfunction on stress response (n = 468), (2) occupational dysfunction on burnout syndrome (n = 1,142), and (3) occupational dysfunction on depression (n = 687). Personal characteristics were collected through a questionnaire (such as age, gender, and job category, opportunities for refreshment, time spent on leisure activities, and work relationships) as well as the Classification and Assessment of Occupational Dysfunction (CAOD). Furthermore, study 1 included the Stress Response Scale-18 (SRS-18), study 2 used the Japanese Burnout Scale (JBS), and study 3 employed the Center for Epidemiological Studies Depression Scale (CES-D). The Kolmogorov–Smirnov test, confirmatory factor analysis (CFA), exploratory factor analysis (EFA), and path analysis of structural equation modeling (SEM) analysis were used in all of the studies. EFA and CFA were used to measure structural validity of four assessments; CAOD, SRS-18, JBS, and CES-D. For examination of a potential covariate, we assessed the correlation of the total and factor score of CAOD and personal factors in all studies. Moreover, direct and indirect effects of occupational dysfunction on stress response (Study 1), burnout syndrome (Study 2), and depression (Study 3) were also analyzed. Results. In study 1, CAOD had 16 items and 4 factors. In Study 2 and 3, CAOD had 16 items and 5 factors. SRS-18 had 18 items and 3 factors, JBS had 17 items and 3 factors, and CES-D had 20 items and 4 factors. All studies found that there were significant correlations between the CAOD total score and the personal factor that included opportunities for refreshment, time spent on leisure activities, and work relationships (p < 0.01). The hypothesis model results suggest that the classification of occupational dysfunction had good fit on the stress response (RMSEA = 0.061, CFI = 0.947, and TLI = 0.943), burnout syndrome (RMSEA = 0.076, CFI = 0.919, and TLI = 0.913), and depression (RMSEA = 0.060, CFI = 0.922, TLI = 0.917). Moreover, the detected covariates include opportunities for refreshment, time spent on leisure activities, and work relationships on occupational dysfunction. Conclusion. Our findings indicate that psychological problems are associated with occupational dysfunction in healthcare workers. Reduction of occupational dysfunction might be a strategy of better preventive occupational therapies for healthcare workers with psychological problems. However, longitudinal studies will be needed to determine a causal relationship. PMID:26618078

Analysis of structural relationship among the occupational dysfunction on the psychological problem in healthcare workers: a study using structural equation modeling.

PubMed

Teraoka, Mutsumi; Kyougoku, Makoto

2015-01-01

Purpose. The purpose of this study is to demonstrate the hypothetical model based on structural relationship with the occupational dysfunction on psychological problems (stress response, burnout syndrome, and depression) in healthcare workers. Method. Three cross sectional studies were conducted to assess the following relations: (1) occupational dysfunction on stress response (n = 468), (2) occupational dysfunction on burnout syndrome (n = 1,142), and (3) occupational dysfunction on depression (n = 687). Personal characteristics were collected through a questionnaire (such as age, gender, and job category, opportunities for refreshment, time spent on leisure activities, and work relationships) as well as the Classification and Assessment of Occupational Dysfunction (CAOD). Furthermore, study 1 included the Stress Response Scale-18 (SRS-18), study 2 used the Japanese Burnout Scale (JBS), and study 3 employed the Center for Epidemiological Studies Depression Scale (CES-D). The Kolmogorov-Smirnov test, confirmatory factor analysis (CFA), exploratory factor analysis (EFA), and path analysis of structural equation modeling (SEM) analysis were used in all of the studies. EFA and CFA were used to measure structural validity of four assessments; CAOD, SRS-18, JBS, and CES-D. For examination of a potential covariate, we assessed the correlation of the total and factor score of CAOD and personal factors in all studies. Moreover, direct and indirect effects of occupational dysfunction on stress response (Study 1), burnout syndrome (Study 2), and depression (Study 3) were also analyzed. Results. In study 1, CAOD had 16 items and 4 factors. In Study 2 and 3, CAOD had 16 items and 5 factors. SRS-18 had 18 items and 3 factors, JBS had 17 items and 3 factors, and CES-D had 20 items and 4 factors. All studies found that there were significant correlations between the CAOD total score and the personal factor that included opportunities for refreshment, time spent on leisure activities, and work relationships (p < 0.01). The hypothesis model results suggest that the classification of occupational dysfunction had good fit on the stress response (RMSEA = 0.061, CFI = 0.947, and TLI = 0.943), burnout syndrome (RMSEA = 0.076, CFI = 0.919, and TLI = 0.913), and depression (RMSEA = 0.060, CFI = 0.922, TLI = 0.917). Moreover, the detected covariates include opportunities for refreshment, time spent on leisure activities, and work relationships on occupational dysfunction. Conclusion. Our findings indicate that psychological problems are associated with occupational dysfunction in healthcare workers. Reduction of occupational dysfunction might be a strategy of better preventive occupational therapies for healthcare workers with psychological problems. However, longitudinal studies will be needed to determine a causal relationship.

[Nebido in the treatment of hypogonadism syndrome and its complications in men].

PubMed

Dedov, I I; Kurbatov, D G; Rozhivanov, R V; Lepetukhin, A E; Dubskiĭ, S A; Goncharov, N P

2011-01-01

The article presents original experience with use of undecanoate (nebido, BayerHealthcare Pharmaceuticals, Germany) in androgenic testosteron replacement therapy in males with hypogonadism. Prospective studies of nebido efficacy were made in males with vein-occlusive erectile dysfunction (n = 20), chronic pelvic pain syndrome (n = 77), metabolic syndrome (n = 170). Retrospective studies assessed efficacy of nebido monotherapy in patients with erectile dysfunction and hypogonadism (n = 34), hematological and urological safety of the drug (n = 40). Laboratory monitoring was performed in all the studies according to ISSAM recommendations. The patients were not included in contraindications to androgenic therapy. Nebido treatment significantly improved libido and erectile function, efficacy of phosphodiesterase of type 5 inhibiors used in moderate and severe erectile dysfunction. Depressive, asthenic, pain symptoms declined in males with chronic pelvic pain. Body fat reduced in metabolic syndrome with alleviation of its other components. Insignificant rise of hemoglobin level and packed cell volume was observed in some patients while a PSA level increase was clinically significant in 10% patients who had initial PSA > 2.5 ng/ml and acromegalia. Also, nebido depressed production of gonadotropins and spermatogenesis. Thus, nebido is highly effective in sexual dysfunction and other somatic disorders caused by hypogonadism. Nebido does not induce severe side effects, but clinically significant rise of PSA level requires treatment discontinuation and more careful urological examination. In view of nebido ability to suppress spermatogenesis, the drug should not be used in reproductively active men.

Common pathophysiological mechanisms involved in luteal phase deficiency and polycystic ovary syndrome. Impact on fertility.

PubMed

Boutzios, Georgios; Karalaki, Maria; Zapanti, Evangelia

2013-04-01

Luteal phase deficiency (LPD) is a consequence of the corpus luteum (CL) inability to produce and preserve adequate levels of progesterone. This is clinically manifested by short menstrual cycles and infertility. Abnormal follicular development, defects in neo-angiogenesis or inadequate steroidogenesis in the lutein cells of the CL have been implicated in CL dysfunction and LPD. LPD and polycystic ovary syndrome (PCOS) are independent disorders sharing common pathophysiological profiles. Factors such as hyperinsulinemia, AMH excess, and defects in angiogenesis of CL are at the origin of both LPD and PCOS. In PCOS ovulatory cycles, infertility could result from dysfunctional CL. The aim of this review was to investigate common mechanisms of infertility in CL dysfunction and PCOS.

[Analysis of syndrome discipline of generalized anxiety disorder using data mining techniques].

PubMed

Tang, Qi-sheng; Sun, Wen-jun; Qu, Miao; Guo, Dong-fang

2012-09-01

To study the use of data mining techniques in analyzing the syndrome discipline of generalized anxiety disorder (GAD). From August 1, 2009 to July 31, 2010, 705 patients with GAD in 10 hospitals of Beijing were investigated over one year. Data mining techniques, such as Bayes net and cluster analysis, were used to analyze the syndrome discipline of GAD. A total of 61 symptoms of GAD were screened out. By using Bayes net, nine syndromes of GAD were abstracted based on the symptoms. Eight syndromes were abstracted by cluster analysis. After screening for duplicate syndromes and combining the experts' experience and traditional Chinese medicine theory, six syndromes of GAD were defined. These included depressed liver qi transforming into fire, phlegm-heat harassing the heart, liver depression and spleen deficiency, heart-kidney non-interaction, dual deficiency of the heart and spleen, and kidney deficiency and liver yang hyperactivity. Based on the results, the draft of Syndrome Diagnostic Criteria for Generalized Anxiety Disorder was developed. Data mining techniques such as Bayes net and cluster analysis have certain future potential for establishing syndrome models and analyzing syndrome discipline, thus they are suitable for the research of syndrome differentiation.

Cardiovascular and systemic effects of gastric dilatation and volvulus in dogs.

PubMed

Sharp, Claire R; Rozanski, Elizabeth A

2014-09-01

Gastric dilatation and volvulus (GDV) is a common emergency condition in large and giant breed dogs that is associated with high morbidity and mortality. Dogs with GDV classically fulfill the criteria for the systemic inflammatory response syndrome (SIRS) and can go on to develop multiple organ dysfunction syndrome (MODS). Previously reported organ dysfunctions in dogs with GDV include cardiovascular, respiratory, gastrointestinal, coagulation and renal dysfunction. Cardiovascular manifestations of GDV include shock, cardiac arrhythmias and myocardial dysfunction. Respiratory dysfunction is also multifactorial, with contributory factors including decreased respiratory excursion due to gastric dilatation, decreased pulmonary perfusion and aspiration pneumonia. Gastrointestinal dysfunction includes gastric necrosis and post-operative gastrointestinal upset such as regurgitation, vomiting, and ileus. Coagulation dysfunction is another common feature of MODS in dogs with GDV. Disseminated intravascular coagulation can occur, putting them at risk of complications associated with thrombosis in the early hypercoagulable state and hemorrhage in the subsequent hypocoagulable state. Acute kidney injury, acid-base and electrolyte disturbances are also reported in dogs with GDV. Understanding the potential for systemic effects of GDV allows the clinician to monitor patients astutely and detect such complications early, facilitating early intervention to maximize the chance of successful management. Copyright © 2014 Elsevier Inc. All rights reserved.

Deanol and methylphenidate in minimal brain dysfunction.

PubMed

Lewis, J A; Young, R

1975-05-01

Deanol, a putative acetylcholine precursor, has been used as a treatment for childhood hyperactivity for years. Efficacy has not been satisfactorily established, however. Seventy-four children referred for problems with learning, including many with hyperactivity, were screened for neurological or psychiatric illness, then given deanol, methylphenidate, or placebo in a double-blind fashion for 3 months. Maintenance dose for methylphenidate was 40 mg daily; for deanol, 500 mg. Behavior rating forms, reaction time, and a series of standard psychometric tests were given before and after treatment. Both drugs showed significant improvement on a number of tests; the pattern and degree of change differed slightly for the two. In this paradigm, deanol thus appeared to improve performance in children with learning and behavior disorders. The mechanism of action remains speculative; proof that deanol increases acetylcholine is scanty, and there is a theoretical basis for actually assuming an anticholinergic effect. Further clinical studies on deanol are indicated.

Post-finasteride syndrome and post-SSRI sexual dysfunction: two sides of the same coin?

PubMed

Giatti, Silvia; Diviccaro, Silvia; Panzica, Giancarlo; Melcangi, Roberto Cosimo

2018-04-19

Sexual dysfunction is a clinical condition due to different causes including the iatrogenic origin. For instance, it is well known that sexual dysfunction may occur in patients treated with antidepressants like selective serotonin reuptake inhibitors (SSRI). A similar side effect has been also reported during treatment with finasteride, an inhibitor of the enzyme 5alpha-reductase, for androgenetic alopecia. Interestingly, sexual dysfunction persists in both cases after drug discontinuation. These conditions have been named post-SSRI sexual dysfunction (PSSD) and post-finasteride syndrome (PFS). In particular, feeling of a lack of connection between the brain and penis, loss of libido and sex drive, difficulty in achieving an erection and genital paresthesia have been reported by patients of both conditions. It is interesting to note that the incidence of these diseases is probably so far underestimated and their etiopathogenesis is not sufficiently explored. To this aim, the present review will report the state of art of these two different pathologies and discuss, on the basis of the role exerted by three different neuromodulators such as dopamine, serotonin and neuroactive steroids, whether the persistent sexual dysfunction observed could be determined by common mechanisms.

Tourette Syndrome and Chronic Tic Disorders: The Clinical Spectrum Beyond Tics.

PubMed

Martino, Davide; Ganos, Christos; Pringsheim, Tamara M

2017-01-01

The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli. Recent evidence suggests that raised interoceptive awareness may be related to the classical premonitory urges associated with tics. The burden of behavioral comorbidities is very important in determining the degree of disability of patients with primary tic disorders. Only 10%-15% of these patients presents exclusively with a tic disorder. Obsessive-compulsive disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. "Tic-related OCD" represents a phenomenologically characteristic subtype of OCD, also associated with "just right" phenomena. Probably the presence of comorbid attention deficit/hyperactivity disorder is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Mood and anxiety disorders, impulse control disorders, rage attacks, "impulsive" tic-like behaviors (e.g., nonobscene socially inappropriate behaviors, and self-injurious behaviors), and autism spectrum disorders complete the wide psychopathological spectrum of primary chronic tic disorders. Moreover, specific sleep abnormalities have been reported in TS patients, although more research is needed on this specific clinical problem. As in other areas of clinical neuroscience, a comprehensive approach to both motor and nonmotor aspects of this group of disorders will help personalizing treatment interventions and, ultimately, improve quality of care. © 2017 Elsevier Inc. All rights reserved.

An introduction to the clinical phenomenology of Tourette syndrome.

PubMed

Martino, Davide; Madhusudan, Namrata; Zis, Panagiotis; Cavanna, Andrea E

2013-01-01

Tourette syndrome (TS) is the primary tic disorder that reaches most commonly medical attention and monitoring, with an estimated prevalence close to 1% between 5 and 18 years of age. Motor and phonic tics are the core features of TS. In addition to their well-characterized phenomenology, tics display a peculiar variability over time, which is strongly influenced by a variety of contextual factors. The sensory phenomena of TS are increasingly recognized as another crucial symptom of TS and consist of premonitory urges and somatic hypersensitivity. A relevant proportion of patients with TS display complex, tic-like, repetitive behaviors that include echophenomena, coprophenomena, and nonobscene socially inappropriate behaviors (NOSIBs). The burden of behavioral comorbidities is very important in determining the degree of disability of TS patients. Only a small minority of TS patients presents exclusively with a tic disorder. Obsessive-compulsive symptoms and related disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. Probably, the presence of comorbid attention deficit hyperactivity disorder (ADHD) is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Affective disorders, impulse control disorders, autism spectrum disorders, and personality disorders complete the wide psychopathological spectrum of this condition, but have been less investigated than OCD and ADHD. The complexity of the Tourette spectrum has been confirmed by cluster and factor analytical approaches, and is likely to inform the study of the genetic basis of this disorder, as well as future reappraisal of its nosography, with the development of novel clinical subtypes. © 2013 Elsevier Inc. All rights reserved.

The Role of Androgen Excess in Metabolic Dysfunction in Women : Androgen Excess and Female Metabolic Dysfunction.

PubMed

Escobar-Morreale, Héctor F

2017-01-01

Polycystic ovary syndrome (PCOS) is characterized by the association of androgen excess with chronic oligoovulation and/or polycystic ovarian morphology, yet metabolic disorders and classic and nonclassic cardiovascular risk factors cluster in these women from very early in life. This chapter focuses on the mechanisms underlying the association of PCOS with metabolic dysfunction, focusing on the role of androgen excess on the development of visceral adiposity and adipose tissue dysfunction.

Specific cognitive-neurophysiological processes predict impulsivity in the childhood attention-deficit/hyperactivity disorder combined subtype.

PubMed

Bluschke, A; Roessner, V; Beste, C

2016-04-01

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent neuropsychiatric disorders in childhood. Besides inattention and hyperactivity, impulsivity is the third core symptom leading to diverse and serious problems. However, the neuronal mechanisms underlying impulsivity in ADHD are still not fully understood. This is all the more the case when patients with the ADHD combined subtype (ADHD-C) are considered who are characterized by both symptoms of inattention and hyperactivity/impulsivity. Combining high-density electroencephalography (EEG) recordings with source localization analyses, we examined what information processing stages are dysfunctional in ADHD-C (n = 20) compared with controls (n = 18). Patients with ADHD-C made more impulsive errors in a Go/No-go task than healthy controls. Neurophysiologically, different subprocesses from perceptual gating to attentional selection, resource allocation and response selection processes are altered in this patient group. Perceptual gating, stimulus-driven attention selection and resource allocation processes were more pronounced in ADHD-C, are related to activation differences in parieto-occipital networks and suggest attentional filtering deficits. However, only response selection processes, associated with medial prefrontal networks, predicted impulsive errors in ADHD-C. Although the clinical picture of ADHD-C is complex and a multitude of processing steps are altered, only a subset of processes seems to directly modulate impulsive behaviour. The present findings improve the understanding of mechanisms underlying impulsivity in patients with ADHD-C and might help to refine treatment algorithms focusing on impulsivity.

Teachers' Assumptions Regarding the Severity, Causes, and Outcomes of Behavioral Problems in Preschoolers: Implications for Referral.

ERIC Educational Resources Information Center

Walker, Elaine; And Others

1984-01-01

Asked preschool teachers (N=100) to rate severity, long-term outcome, stability, and importance of constitutional and environmental determinants for case vignettes describing three syndromes: aggression, hyperactivity, and withdrawal, and to judge the need for referral. Results indicated little evidence of sex bias in teachers' evaluations of the…

Immediate-Release Methylphenidate for ADHD in Children with Comorbid Chronic Multiple Tic Disorder

ERIC Educational Resources Information Center

Gadow, Kenneth D.; Sverd, Jeffrey; Nolan, Edith E.; Sprafkin, Joyce; Schneider, Jayne

2007-01-01

Objective: To examine the safety and efficacy of immediate-release methylphenidate (MPH-IR) for the treatment of attention-deficit/hyperactivity disorder (ADHD) in children (ages 6-12 years) with Tourette's syndrome (96%) or chronic motor tic disorder (4%). Method: Two cohorts of prepubertal children (N = 71) received placebo and three doses of…

Learning Curve Analyses in Neurodevelopmental Disorders: Are Children with Autism Spectrum Disorder Truly Visual Learners?

ERIC Educational Resources Information Center

Erdodi, Laszlo; Lajiness-O'Neill, Renee; Schmitt, Thomas A.

2013-01-01

Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly…

Direct and Indirect Measures of Social Perception, Behavior, and Emotional Functioning in Children with Asperger's Disorder, Nonverbal Learning Disability, or ADHD

ERIC Educational Resources Information Center

Semrud-Clikeman, Margaret; Walkowiak, Jenifer; Wilkinson, Alison; Minne, Elizabeth Portman

2010-01-01

Understanding social interactions is crucial for development of social competence. The present study was one of the first to utilize direct and indirect measures of social perception to explore possible differences among children with nonverbal learning disability (NLD), Asperger's Syndrome (AS), Attention Deficit Hyperactivity Disorder-Combined…

A novel experimental paradigm to evaluate children and adolescents diagnosed with attention-deficit/hyperactivity disorder: Comparison with two standard neuropsychological methods.

PubMed

Rosetti, Marcos F; Ulloa, Rosa E; Reyes-Zamorano, Ernesto; Palacios-Cruz, Lino; de la Peña, Francisco; Hudson, Robyn

2018-08-01

In this study we evaluated a recently developed test, the Ball Search Field Task (BSFT) as a neuropsychological tool for measuring cognitive and behavioral performance of individuals with disorders such as attention-deficit/hyperactivity disorder (ADHD), which are frequently accompanied by cognitive deficits and a lack of behavioral inhibition. The task provides a complementary method of assessment that attempts ecological validity by drawing on challenges faced in real-world situations. In this task, energetic costs and gross sensorimotor feedback are involved, as participants are required to search for targets in a large open area. We compared performance on the BSFT in a clinical sample of children and adolescents with a diagnosis of ADHD with their scores on two widely used neuropsychological tools, the Tower of London (ToLo) and the Behavior Rating Inventory of Executive Function (BRIEF). We found no correlations between scores on the BRIEF and those on either the BSFT or ToLo. However, we found moderate correlations between rule violations on ToLo and several BSFT variables, suggesting the capacity of these tests to detect common aspects of executive dysfunction. These findings, although modest, encourage further study of tasks like the BSFT, which may help assess cognitive dysfunction found in neurodevelopmental disorders such as ADHD in ecologically valid situations.

Mitochondrial dysfunction and lipid peroxidation in rat frontal cortex by chronic NMDA administration can be partially prevented by lithium treatment.

PubMed

Kim, Helena K; Isaacs-Trepanier, Cameron; Elmi, Nika; Rapoport, Stanley I; Andreazza, Ana C

2016-05-01

Chronic N-methyl-d-aspartate (NMDA) administration to rats may be a model to investigate excitotoxicity mediated by glutamatergic hyperactivity, and lithium has been reported to be neuroprotective. We hypothesized that glutamatergic hyperactivity in chronic NMDA injected rats would cause mitochondrial dysfunction and lipid peroxidation in the brain, and that chronic lithium treatment would ameliorate some of these NMDA-induced alterations. Rats treated with lithium for 6 weeks were injected i.p. 25 mg/kg NMDA on a daily basis for the last 21 days of lithium treatment. Brain was removed and frontal cortex was analyzed. Chronic NMDA decreased brain levels of mitochondrial complex I and III, and increased levels of the lipid oxidation products, 8-isoprostane and 4-hydroxynonenal, compared with non-NMDA injected rats. Lithium treatment prevented the NMDA-induced increments in 8-isoprostane and 4-hydroxynonenal. Our findings suggest that increased chronic activation of NMDA receptors can induce alterations in electron transport chain complexes I and III and in lipid peroxidation in brain. The NMDA-induced changes may contribute to glutamate-mediated excitotoxicity, which plays a role in brain diseases such as bipolar disorder. Lithium treatment prevented changes in 8-isoprostane and 4-hydroxynonenal, which may contribute to lithium's reported neuroprotective effect and efficacy in bipolar disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.

Pharmacological inhibition of soluble epoxide hydrolase ameliorates diet-induced metabolic syndrome in rats.

PubMed

Iyer, Abishek; Kauter, Kathleen; Alam, Md Ashraful; Hwang, Sung Hee; Morisseau, Christophe; Hammock, Bruce D; Brown, Lindsay

2012-01-01

The signs of metabolic syndrome following chronic excessive macronutrient intake include body weight gain, excess visceral adipose deposition, hyperglycaemia, glucose and insulin intolerances, hypertension, dyslipidaemia, endothelial damage, cardiovascular hypertrophy, inflammation, ventricular contractile dysfunction, fibrosis, and fatty liver disease. Recent studies show increased activity of soluble epoxide hydrolase (sEH) during obesity and metabolic dysfunction. We have tested whether sEH inhibition has therapeutic potential in a rat model of diet-induced metabolic syndrome. In these high-carbohydrate, high-fat-fed rats, chronic oral treatment with trans-4-[4-(3-adamantan-1-ylureido)-cyclohexyloxy]-benzoic acid (t-AUCB), a potent sEH inhibitor, alleviated the signs of metabolic syndrome in vivo including glucose, insulin, and lipid abnormalities, changes in pancreatic structure, increased systolic blood pressure, cardiovascular structural and functional abnormalities, and structural and functional changes in the liver. The present study describes the pharmacological responses to this selective sEH inhibitor in rats with the signs of diet-induced metabolic syndrome.

Dengue-Associated Posterior Reversible Encephalopathy Syndrome, Vietnam

PubMed Central

Mai, Nguyen Thi Hoang; Phu, Nguyen Hoan; Nghia, Ho Dang Trung; Phuong, Tran My; Duc, Du Trong; Chau, Nguyen Van Vinh; Wills, Bridget; Lim, Choie Cheio Tchoyoson; Thwaites, Guy; Simmons, Cameron Paul

2018-01-01

Dengue can cause neurologic complications in addition to the more common manifestations of plasma leakage and coagulopathy. Posterior reversible encephalopathy syndrome has rarely been described in dengue, although the pathophysiology of endothelial dysfunction likely underlies both. We describe a case of dengue-associated posterior reversible encephalopathy syndrome and discuss diagnosis and management. PMID:29350156

Secondary hemophagocytic lymphohistiocytosis and severe sepsis/systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of infla

USDA-ARS?s Scientific Manuscript database

In an effort to attain earlier diagnoses in children with hemophagocytic lymphohistiocytosis (HLH), the International Histiocyte Society has now broadened their diagnostic criteria to no longer differentiate primary (HLH) and secondary hemophagocytic lymphohistiocytosis (SHLH). Five of the following...

Progressive posterior cortical dysfunction

PubMed Central

Porto, Fábio Henrique de Gobbi; Machado, Gislaine Cristina Lopes; Morillo, Lilian Schafirovits; Brucki, Sonia Maria Dozzi

2010-01-01

Progressive posterior cortical dysfunction (PPCD) is an insidious syndrome characterized by prominent disorders of higher visual processing. It affects both dorsal (occipito-parietal) and ventral (occipito-temporal) pathways, disturbing visuospatial processing and visual recognition, respectively. We report a case of a 67-year-old woman presenting with progressive impairment of visual functions. Neurologic examination showed agraphia, alexia, hemispatial neglect (left side visual extinction), complete Balint’s syndrome and visual agnosia. Magnetic resonance imaging showed circumscribed atrophy involving the bilateral parieto-occipital regions, slightly more predominant to the right. Our aim was to describe a case of this syndrome, to present a video showing the main abnormalities, and to discuss this unusual presentation of dementia. We believe this article can contribute by improving the recognition of PPCD. PMID:29213665

Developmental androgen excess programs sympathetic tone and adipose tissue dysfunction and predisposes to a cardiometabolic syndrome in female mice.

PubMed

Nohara, Kazunari; Waraich, Rizwana S; Liu, Suhuan; Ferron, Mathieu; Waget, Aurélie; Meyers, Matthew S; Karsenty, Gérard; Burcelin, Rémy; Mauvais-Jarvis, Franck

2013-06-15

Among women, the polycystic ovarian syndrome (PCOS) is considered a form of metabolic syndrome with reproductive abnormalities. Women with PCOS show increased sympathetic tone, visceral adiposity with enlarged adipocytes, hypoadiponectinemia, insulin resistance, glucose intolerance, increased inactive osteocalcin, and hypertension. Excess fetal exposure to androgens has been hypothesized to play a role in the pathogenesis of PCOS. Previously, we showed that neonatal exposure to the androgen testosterone (NT) programs leptin resistance in adult female mice. Here, we studied the impact of NT on lean and adipose tissues, sympathetic tone in cardiometabolic tissues, and the development of metabolic dysfunction in mice. Neonatally androgenized adult female mice (NTF) displayed masculinization of lean tissues with increased cardiac and skeletal muscle as well as kidney masses. NTF mice showed increased and dysfunctional white adipose tissue with increased sympathetic tone in both visceral and subcutaneous fat as well as increased number of enlarged and insulin-resistant adipocytes that displayed altered expression of developmental genes and hypoadiponectinemia. NTF exhibited dysfunctional brown adipose tissue with increased mass and decreased energy expenditure. They also displayed decreased undercarboxylated and active osteocalcin and were predisposed to obesity during chronic androgen excess. NTF showed increased renal sympathetic tone associated with increased blood pressure, and they developed glucose intolerance and insulin resistance. Thus, developmental exposure to testosterone in female mice programs features of cardiometabolic dysfunction, as can be observed in women with PCOS, including increased sympathetic tone, visceral adiposity, insulin resistance, prediabetes, and hypertension.

Developmental androgen excess programs sympathetic tone and adipose tissue dysfunction and predisposes to a cardiometabolic syndrome in female mice

PubMed Central

Nohara, Kazunari; Waraich, Rizwana S.; Liu, Suhuan; Ferron, Mathieu; Waget, Aurélie; Meyers, Matthew S.; Karsenty, Gérard; Burcelin, Rémy

2013-01-01

Among women, the polycystic ovarian syndrome (PCOS) is considered a form of metabolic syndrome with reproductive abnormalities. Women with PCOS show increased sympathetic tone, visceral adiposity with enlarged adipocytes, hypoadiponectinemia, insulin resistance, glucose intolerance, increased inactive osteocalcin, and hypertension. Excess fetal exposure to androgens has been hypothesized to play a role in the pathogenesis of PCOS. Previously, we showed that neonatal exposure to the androgen testosterone (NT) programs leptin resistance in adult female mice. Here, we studied the impact of NT on lean and adipose tissues, sympathetic tone in cardiometabolic tissues, and the development of metabolic dysfunction in mice. Neonatally androgenized adult female mice (NTF) displayed masculinization of lean tissues with increased cardiac and skeletal muscle as well as kidney masses. NTF mice showed increased and dysfunctional white adipose tissue with increased sympathetic tone in both visceral and subcutaneous fat as well as increased number of enlarged and insulin-resistant adipocytes that displayed altered expression of developmental genes and hypoadiponectinemia. NTF exhibited dysfunctional brown adipose tissue with increased mass and decreased energy expenditure. They also displayed decreased undercarboxylated and active osteocalcin and were predisposed to obesity during chronic androgen excess. NTF showed increased renal sympathetic tone associated with increased blood pressure, and they developed glucose intolerance and insulin resistance. Thus, developmental exposure to testosterone in female mice programs features of cardiometabolic dysfunction, as can be observed in women with PCOS, including increased sympathetic tone, visceral adiposity, insulin resistance, prediabetes, and hypertension. PMID:23612996

The influence of age on posterior pelvic floor dysfunction in women with obstructed defecation syndrome.

PubMed

Murad-Regadas, S M; Rodrigues, L V; Furtado, D C; Regadas, F S P; Olivia da S Fernandes, G; Regadas Filho, F S P; Gondim, A C; de Paula Joca da Silva, R

2012-06-01

Knowledge of risk factors is particularly useful to prevent or manage pelvic floor dysfunction but although a number of such factors have been proposed, results remain inconsistent. The purpose of this study was to evaluate the impact of aging on the incidence of posterior pelvic floor disorders in women with obstructed defecation syndrome evaluated using echodefecography. A total of 334 patients with obstructed defecation were evaluated using echodefecography in order to quantify posterior pelvic floor dysfunction (rectocele, intussusception, mucosal prolapse, paradoxical contraction or non-relaxation of the puborectalis muscle, and grade III enterocele/sigmoidocele). Patients were grouped according to the age (Group I = patients up to 50 years of age; Group II = patients over 50 years of age) to evaluate the isolated and associated incidence of dysfunctions. To evaluate the relationship between dysfunction and age-related changes, patients were also stratified into decades. Group I included 196 patients and Group II included 138. The incidence of significant rectocele, intussusception, rectocele associated with intussusception, rectocele associated with mucosal prolapse and 3 associated disorders was higher in Group II, whereas anismus was more prevalent in Group I. The incidence of significant rectocele, intussusception, mucosal prolapse and grade III enterocele/sigmoidocele was found to increase with age. Conversely, anismus decreased with age. Aging was shown to influence the incidence of posterior pelvic floor disorders (rectocele, intussusception, mucosa prolapse and enterocele/sigmoidocele), but not the incidence of anismus, in women with obstructed defecation syndrome.

[Mitochondrial and microcirculatory distress syndrome in the critical patient. Therapeutic implications].

PubMed

Navarrete, M L; Cerdeño, M C; Serra, M C; Conejero, R

2013-10-01

Mitochondrial and microcirculatory distress syndrome (MMDS) can occur during systemic inflammatory response syndrome (SIRS), and is characterized by cytopathic tissue hypoxia uncorrected by oxygen transport optimization, and associated with an acquired defect in the use of oxygen and energy production in mitochondria, leading to multiple organ dysfunction (MOD). We examine the pathogenesis of MMDS, new diagnostic methods, and recent therapeutic approaches adapted to each of the three phases in the evolution of the syndrome. In the initial phase, the aim is prevention and early reversal of mitochondrial dysfunction. Once the latter is established, the aim is to restore flow of the electron chain, mitochondrial respiration, and to avoid cellular energy collapse. Finally, in the third (resolution) stage, treatment should focus on stimulating mitochondrial biogenesis and the repair or replacement of damaged mitochondria. Copyright © 2012 Elsevier España, S.L. and SEMICYUC. All rights reserved.

A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

PubMed

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2014-05-01

Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

PubMed

Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

2011-10-01

Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Electrophysiological signs of supplementary-motor-area deficits in high-functioning autism but not Asperger syndrome: an examination of internally cued movement-related potentials.

PubMed

Enticott, Peter G; Bradshaw, John L; Iansek, Robert; Tonge, Bruce J; Rinehart, Nicole J

2009-10-01

Motor dysfunction is common to both autism and Asperger syndrome, but the underlying neurophysiological impairments are unclear. Neurophysiological examinations of motor dysfunction can provide information about likely sites of functional impairment and can contribute to the debate about whether autism and Asperger syndrome are variants of the same disorder or fundamentally distinct neurodevelopmental conditions. We investigated the neurophysiology of internally determined motor activity in autism and Asperger syndrome via examination of movement-related potentials (MRPs). We used electroencephalography to investigate MRPs, via an internally cued movement paradigm, in the following three groups: (1) individuals with high-functioning autism (14 males, one female; mean age 13 y 1 mo, SD 4 y 2 mo, range 7 y 8 mo to 20 y 9 mo; mean Full-scale IQ 93.40, SD 20.72); (2) individuals with Asperger syndrome (10 males, two females; mean age 13 y 7 mo, SD 3 y 9 mo, range 8 y 11 mo to 20 y 4 mo; mean Full-scale IQ 103.25, SD 19.37), and (3) a healthy control group (13 males, seven females; mean age 14 y 0 mo, SD 3 y 11 mo; range 8 y 4 mo to 21 y 0 mo; mean Full-scale IQ 114.25, SD 11.29). Abnormal MRPs can reflect disruption of motor-related neural networks involving the basal ganglia, thalamus, and supplementary motor area. There was evidence for abnormal MRPs in autism (e.g. increased post-movement cortical activity, abnormal peak time) but not in Asperger syndrome. The results support basal ganglia, thalamus, and supplementary motor area involvement as a likely source of motor dysfunction in autism, and provide further evidence for the neurobiological separateness of autism and Asperger syndrome.

Mitochondrial translocation of Nur77 induced by ROS contributed to cardiomyocyte apoptosis in metabolic syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Xu, Aibin; Liu, Jingyi; Institute of Cardiovascular Disease, General Hospital of Beijing Command, PLA, Beijing

Highlights: • Metabolic syndrome exacerbated MI/R induced injury accompanied by decreased Nur77. • ROS led to Nur77 translocation in metabolic syndrome. • Inhibiting relocation of Nur77 to mitochondria reduced ROS-induced cardiomyocyte injury in metabolic syndrome. - Abstract: Metabolic syndrome is a major risk factor for cardiovascular diseases, and increased cardiomyocyte apoptosis which contributes to cardiac dysfunction after myocardial ischemia/reperfusion (MI/R) injury. Nur77, a nuclear orphan receptor, is involved in such various cellular events as apoptosis, proliferation, and glucose and lipid metabolism in several cell types. Apoptosis is positively correlated with mitochondrial translocation of Nur77 in the cancer cells. However, themore » roles of Nur77 on cardiac myocytes in patients with metabolic syndrome remain unclear. The objective of this study was to determine whether Nur77 may contribute to cardiac apoptosis in patients with metabolic syndrome after I/R injury, and, if so, to identify the underlying molecular mechanisms responsible. We used leptin-deficient (ob/ob) mice to make metabolic syndrome models. In this report, we observed that, accompanied by the substantial decline in apoptosis inducer Nur77, MI/R induced cardiac dysfunction was manifested as cardiomyopathy and increased ROS. Using the neonatal rat cardiac myocytes cultured in a high-glucose and high-fat medium, we found that excessive H{sub 2}O{sub 2} led to the significant alteration in mitochondrial membrane potential and translocation of Nur77 from the nucleus to the mitochondria. However, inhibition of the relocation of Nur77 to mitochondria via Cyclosporin A reversed the changes in membrane potential mediated by H{sub 2}O{sub 2} and reduced myocardial cell injury. Therefore, these data provide a potential underlying mechanism for cardiac dysfunction in metabolic syndrome and the suppression of Nur77 translocation may provide an effective approach to reduce cardiac injury in the process.« less

Erectile dysfunction and the internet: drug company manipulation of public and professional opinion.

PubMed

Read, John; Mati, Elizabeth

2013-01-01

Given that the Internet is now a major source of information regarding health and mental health problems, and that it is in the interest of the pharmaceutical industry to influence public and professional opinion, this study evaluated 70 websites about erectile dysfunction. The 31 drug company-funded websites (44%) were, compared with the 39 websites that are not industry funded, significantly more biased toward biological factors in general, and toward medication in particular (p < .01). The high proportion of websites that are industry sponsored, and the bias of those websites, confirms previous studies on depression, posttraumatic stress disorder, schizophrenia, and attention deficit hyperactivity disorder, and demonstrates that drug companies are using their financial might to manipulate public and professional opinion on the Internet.

Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells.

PubMed

Dobson, Lucianne; Träger, Ulrike; Farmer, Ruth; Hayardeny, Liat; Loupe, Pippa; Hayden, Michael R; Tabrizi, Sarah J

2016-06-01

Huntington's disease (HD) is a neurodegenerative condition characterized by pathology in the brain and peripheral tissues. Hyperactivity of the innate immune system, due in part to NFκB pathway dysregulation, is an early and active component of HD. Evidence suggests targeting immune disruption may slow disease progression. Laquinimod is an orally active immunomodulator that down-regulates proinflammatory cytokine production in peripheral blood mononuclear cells, and in the brain down-regulates astrocytic and microglial activation by modulating NFκB signalling. Laquinimod had beneficial effects on inflammation, brain atrophy and disease progression in multiple sclerosis (MS) in two phase III clinical trials. This study investigated the effects of laquinimod on hyperactive proinflammatory cytokine release and NFκB signalling in HD patient myeloid cell cultures. Monocytes from manifest (manHD) and pre-manifest (preHD) HD gene carriers and healthy volunteers (HV) were treated with laquinimod and stimulated with lipopolysaccharide. After 24 h pre-treatment with 5 μM laquinimod, manHD monocytes released lower levels of IL-1β, IL-5, IL-8, IL-10, IL-13 and TNFα in response to stimulation. PreHD monocytes released lower levels of IL-8, IL-10 and IL-13, with no reduction observed in HV monocytes. The effects of laquinimod on dysfunctional NFκB signalling in HD was assessed by inhibitor of kappa B (IκB) degradation kinetics, nuclear translocation of NFκB and interactions between IκB kinase (IKK) and HTT, in HD myeloid cells. No differences were observed between laquinimod-treated and untreated conditions. These results provide evidence that laquinimod dampens hyper-reactive cytokine release from manHD and preHD monocytes, with a much reduced effect on HV monocytes. Evidence suggests targeting CNS and peripheral immune disruption may slow Huntington's disease (HD) neurodegenerative processes. The effects of laquinimod, an orally active immunomodulator, on hyperactive cytokine release and dysfunctional NFκB signalling in stimulated myeloid cell cultures from pre-manifest and manifest HD gene carriers and healthy volunteers were investigated. Laquinimod dampened cytokine release but did not impact NFκB signalling. Read the Editorial Highlight for this article on page 670. © 2016 The Authors. Journal of Neurochemistry published by John Wiley & Sons Ltd on behalf of International Society for Neurochemistry.

Acute Korsakoff syndrome following mammillothalamic tract infarction.

PubMed

Yoneoka, Yuichiro; Takeda, Norio; Inoue, Akira; Ibuchi, Yasuo; Kumagai, Takashi; Sugai, Tsutomu; Takeda, Ken-ichiro; Ueda, Kaoru

2004-01-01

There are limited case reports of structural lesions causing Korsakoff syndrome. This report describes acute Korsakoff syndrome following localized, bilateral infarction of the mammillothalamic tracts (MTTs). Axial T2-weighted imaging revealed the lesions at the lateral wall level of the third ventricle and diffusion-weighted imaging confirmed that the left lesion was new and the right old. Korsakoff syndrome persisted 6 months after the onset. This case suggests that bilateral MTT dysfunction can lead to Korsakoff syndrome.

Reversible renal allograft dysfunction and proteinuria from nutcracker-like syndrome: a case report.

PubMed

Krishnan, S G S; Pritsiolas, J; Susin, M; Linden, E; Beil-Levi, E; Gitman, M; Mossey, R; Bhaskaran, M

2007-06-01

A 27-year-old Hispanic man with hypertension and renal failure was on hemodialysis for 4 years prior to receiving a living donor renal transplant from his 19-year-old sister. His serum creatinine decreased to 1.7 mg/dL at 3 weeks posttransplant with a urine protein creatinine ratio (UP) of 0.1 (g/g). Over the next 2 months, he experienced repeated episodes of allograft dysfunction with elevation of creatinine and proteinuria levels, associated with a lymphocele. Doppler studies of the allograft revealed renal vein compression. His symptoms responded to aspiration of the fluid collection, resolving completely with surgical drainage. We believe that the episodes of allograft dysfunction and proteinuria were related to recurrent lymphocele, causing a nutcracker-like syndrome.

Primary Sjögren's syndrome is characterized by distinct phenotypic and transcriptional profiles of IgD+ unswitched memory B cells.

PubMed

Roberts, Mustimbo E P; Kaminski, Denise; Jenks, Scott A; Maguire, Craig; Ching, Kathryn; Burbelo, Peter D; Iadarola, Michael J; Rosenberg, Alexander; Coca, Andreea; Anolik, Jennifer; Sanz, Iñaki

2014-09-01

The significance of distinct B cell abnormalities in primary Sjögren's syndrome (SS) remains to be established. We undertook this study to analyze the phenotype and messenger RNA (mRNA) transcript profiles of B cell subsets in patients with primary SS and to compare them with those in sicca syndrome patients and healthy controls. CD19+ B cells from 26 patients with primary SS, 27 sicca syndrome patients, and 22 healthy controls were analyzed by flow cytometry. Gene expression profiles of purified B cell subsets (from 3-5 subjects per group per test) were analyzed using Affymetrix gene arrays. Patients with primary SS had lower frequencies of CD27+IgD- switched memory B cells and CD27+IgD+ unswitched memory B cells compared with healthy controls. Unswitched memory B cell frequencies were also lower in sicca syndrome patients and correlated inversely with serologic hyperactivity in both disease states. Further, unswitched memory B cells in primary SS had lower expression of CD1c and CD21. Gene expression analysis of CD27+ memory B cells separated patients with primary SS from healthy controls and identified a subgroup of sicca syndrome patients with a primary SS-like transcript profile. Moreover, unswitched memory B cell gene expression analysis identified 187 genes differentially expressed between patients with primary SS and healthy controls. A decrease in unswitched memory B cells with serologic hyperactivity is characteristic of both established primary SS and a subgroup of sicca syndrome, which suggests the value of these B cells both as biomarkers of future disease progression and for understanding disease pathogenesis. Overall, the mRNA transcript analysis of unswitched memory B cells suggests that their activation in primary SS takes place through innate immune pathways in the context of attenuated antigen-mediated adaptive signaling. Thus, our findings provide important insight into the mechanisms and potential consequences of decreased unswitched memory B cells in primary SS. Copyright © 2014 by the American College of Rheumatology.

Insulin resistance in obesity as the underlying cause for the metabolic syndrome.

PubMed

Gallagher, Emily J; Leroith, Derek; Karnieli, Eddy

2010-01-01

The metabolic syndrome affects more than a third of the US population, predisposing to the development of type 2 diabetes and cardiovascular disease. The 2009 consensus statement from the International Diabetes Federation, American Heart Association, World Heart Federation, International Atherosclerosis Society, International Association for the Study of Obesity, and the National Heart, Lung, and Blood Institute defines the metabolic syndrome as 3 of the following elements: abdominal obesity, elevated blood pressure, elevated triglycerides, low high-density lipoprotein cholesterol, and hyperglycemia. Many factors contribute to this syndrome, including decreased physical activity, genetic predisposition, chronic inflammation, free fatty acids, and mitochondrial dysfunction. Insulin resistance appears to be the common link between these elements, obesity and the metabolic syndrome. In normal circumstances, insulin stimulates glucose uptake into skeletal muscle, inhibits hepatic gluconeogenesis, and decreases adipose-tissue lipolysis and hepatic production of very-low-density lipoproteins. Insulin signaling in the brain decreases appetite and prevents glucose production by the liver through neuronal signals from the hypothalamus. Insulin resistance, in contrast, leads to the release of free fatty acids from adipose tissue, increased hepatic production of very-low-density lipoproteins and decreased high-density lipoproteins. Increased production of free fatty acids, inflammatory cytokines, and adipokines and mitochondrial dysfunction contribute to impaired insulin signaling, decreased skeletal muscle glucose uptake, increased hepatic gluconeogenesis, and β cell dysfunction, leading to hyperglycemia. In addition, insulin resistance leads to the development of hypertension by impairing vasodilation induced by nitric oxide. In this review, we discuss normal insulin signaling and the mechanisms by which insulin resistance contributes to the development of the metabolic syndrome.

Takotsubo cardiomyopathy associated with Miller-Fisher syndrome.

PubMed

Gill, Dalvir; Liu, Kan

2017-07-01

51-year-old female who presented with progressive paresthesia, numbness of the lower extremities, double vision, and trouble walking. Physical exam was remarkable for areflexia, and ptosis. Her initial EKG showed nonspecific ST segment changes and her Troponin T was elevated to 0.41ng/mL which peaked at 0.66ng/mL. Echocardiogram showed a depressed left ventricular ejection fraction to 35% with severely hypokinetic anterior wall and left ventricular apex was severely hypokinetic. EMG nerve conduction study showed severely decreased conduction velocity and prolonged distal latency in all nerves consistent with demyelinating disease. She was treated with 5days of intravenous immunoglobulin therapy to which she showed significant improvement in strength in her lower extremities. Echocardiogram repeated 4days later showing an improved left ventricular ejection fraction of 55% and no left ventricular wall motion abnormalities. Takotsubo cardiomyopathy is a rare complication of Miller-Fisher syndrome and literature review did not reveal any cases. Miller-Fisher syndrome is an autoimmune process that affects the peripheral nervous system causing autonomic dysfunction which may involve the heart. Due to significant autonomic dysfunction in Miller-Fisher syndrome, it could lead to arrhythmias, blood pressure changes, acute coronary syndrome and myocarditis, Takotsubo cardiomyopathy can be difficult to distinguish. The treatment of Takotsubo cardiomyopathy is supportive with beta-blockers and angiotensin-converting enzyme inhibitors are recommended until left ventricle ejection fraction improvement. Takotsubo cardiomyopathy is a rare complication during the acute phase of Miller-Fisher syndrome and must be distinguished from autonomic dysfunction as both diagnoses have different approaches to treatment. Published by Elsevier Inc.

Increased O-GlcNAcylation of Endothelial Nitric Oxide Synthase Compromises the Anti-contractile Properties of Perivascular Adipose Tissue in Metabolic Syndrome.

PubMed

da Costa, Rafael M; da Silva, Josiane F; Alves, Juliano V; Dias, Thiago B; Rassi, Diane M; Garcia, Luis V; Lobato, Núbia de Souza; Tostes, Rita C

2018-01-01

Under physiological conditions, the perivascular adipose tissue (PVAT) negatively modulates vascular contractility. This property is lost in experimental and human obesity and in the metabolic syndrome, indicating that changes in PVAT function may contribute to vascular dysfunction associated with increased body weight and hyperglycemia. The O -linked β-N-acetylglucosamine ( O -GlcNAc) modification of proteins ( O -GlcNAcylation) is a unique posttranslational process that integrates glucose metabolism with intracellular protein activity. Increased flux of glucose through the hexosamine biosynthetic pathway and the consequent increase in tissue-specific O -GlcNAc modification of proteins have been linked to multiple facets of vascular dysfunction in diabetes and other pathological conditions. We hypothesized that chronic consumption of glucose, a condition that progresses to metabolic syndrome, leads to increased O -GlcNAc modification of proteins in the PVAT, decreasing its anti-contractile effects. Therefore, the current study was devised to determine whether a high-sugar diet increases O -GlcNAcylation in the PVAT and how increased O -GlcNAc interferes with PVAT vasorelaxant function. To assess molecular mechanisms by which O -GlcNAc contributes to PVAT dysfunction, thoracic aortas surrounded by PVAT were isolated from Wistar rats fed either a control or high sugar diet, for 10 and 12 weeks. Rats chronically fed a high sugar diet exhibited metabolic syndrome features, increased O -GlcNAcylated-proteins in the PVAT and loss of PVAT anti-contractile effect. PVAT from high sugar diet-fed rats for 12 weeks exhibited decreased NO formation, reduced expression of endothelial nitric oxide synthase (eNOS) and increased O -GlcNAcylation of eNOS. High sugar diet also decreased OGA activity and increased superoxide anion generation in the PVAT. Visceral adipose tissue samples from hyperglycemic patients showed increased levels of O -GlcNAc-modified proteins, increased ROS generation and decreased OGA activity. These data indicate that O -GlcNAcylation contributes to metabolic syndrome-induced PVAT dysfunction and that O -GlcNAcylation of eNOS may be targeted in the development of novel therapies for vascular dysfunction in conditions associated with hyperglycemia.

A single-centre report on the characteristics of Tako-tsubo syndrome.

PubMed

Teh, Andrew W; New, Gishel; Cooke, Jennifer

2010-02-01

Tako-tsubo cardiomyopathy is an increasingly recognised phenomenon characterised by chest pain, ECG abnormalities, cardiac biomarker elevation and transient left ventricular dysfunction without significant coronary artery obstruction. To report the clinical and echocardiographic characteristics from a large single-centre Australian series of patients with Tako-tsubo syndrome. We prospectively collected data on 23 consecutive patients presenting between November 2005 and November 2007. Baseline demographics, ECG, echocardiography and coronary angiography were performed on nearly all patients. All patients presented with chest pain; 87% were female. Various stressors were noted and cardiac Troponin-T was elevated in 91% of patients. All patients had non-obstructive coronary disease at angiography. 19/23 patients had initial and subsequent echocardiography. Mean ejection fraction was 50% at baseline and 64% at follow-up (p<0.0001). Right ventricular dysfunction was present in eight, dynamic left ventricular outflow tract obstruction in two, diastolic dysfunction in seven and two patients had the mid-cavity variant. This large prospective single-centre Australian series of Tako-tsubo syndrome is in concert with previous published series. Complete recovery of left ventricular function on echocardiographic follow-up was typical. Although its pathogenesis remains unclear, early distinction from acute coronary syndromes is important and the prognosis is reassuringly good. Crown Copyright (c) 2009. Published by Elsevier B.V. All rights reserved.

Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

ERIC Educational Resources Information Center

Rovet, Joanne F.

This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

Lifestyle modifications and erectile dysfunction: what can be expected?

PubMed Central

Maiorino, Maria Ida; Bellastella, Giuseppe; Esposito, Katherine

2015-01-01

Erectile dysfunction (ED) is a common medical disorder whose prevalence is increasing worldwide. Modifiable risk factors for ED include smoking, lack of physical activity, wrong diets, overweight or obesity, metabolic syndrome, and excessive alcohol consumption. Quite interestingly, all these metabolic conditions are strongly associated with a pro-inflammatory state that results in endothelial dysfunction by decreasing the availability of nitric oxide (NO), which is the driving force of the blood genital flow. Lifestyle and nutrition have been recognized as central factors influencing both vascular NO production, testosterone levels, and erectile function. Moreover, it has also been suggested that lifestyle habits that decrease low-grade clinical inflammation may have a role in the improvement of erectile function. In clinical trials, lifestyle modifications were effective in ameliorating ED or restoring absent ED in people with obesity or metabolic syndrome. Therefore, promotion of healthful lifestyles would yield great benefits in reducing the burden of sexual dysfunction. Efforts, in order to implement educative strategies for healthy lifestyle, should be addressed. PMID:25248655

[New concepts in hyperactive malarial splenomegaly].

PubMed

Moraes, M F; Soares, M; Arroz, M J; Do Rosário, V E; Da Graça, J Pimenta; Abecasis, P

2003-01-01

Hyperreactive malarial splenomegaly is thought to represent an immunological dysfunction due to recurrent episodes of malaria. The authors present a case of hyperreactive malarial splenomegaly in a patient from São Tomé e Príncipe and discuss aspects of its differential diagnosis and treatment. A revision is made of recent concepts related to its pathogenesis and relationship with lymphoproliferative disorders. Malarial DNA was found in the absence of parasite forms in the peripheral blood. This may indicate that latent infection plays a role in its pathogenesis.

Neurological soft signs, but not theory of mind and emotion recognition deficit distinguished children with ADHD from healthy control.

PubMed

Pitzianti, Mariabernarda; Grelloni, Clementina; Casarelli, Livia; D'Agati, Elisa; Spiridigliozzi, Simonetta; Curatolo, Paolo; Pasini, Augusto

2017-10-01

Attention Deficit Hyperactivity Disorder (ADHD) is associated with social cognition impairment, executive dysfunction and motor abnormalities, consisting in the persistence of neurological soft signs (NSS). Theory of mind (ToM) and emotion recognition (ER) deficit of children with ADHD have been interpreted as a consequence of their executive dysfunction, particularly inhibitory control deficit. To our knowledge, there are not studies that evaluate the possible correlation between the ToM and ER deficit and NSS in the population with ADHD, while this association has been studied in other psychiatric disorders, such as schizophrenia. Therefore, the aim of this study was to evaluate ToM and ER and NSS in a sample of 23 drug-naïve children with ADHD and a sample of 20 healthy children and the possible correlation between social cognition dysfunction and NSS in ADHD. Our findings suggest that ToM and ER dysfunction is not a constant feature in the population with ADHD, while NSS confirmed as a markers of atypical neurodevelopment and predictors of the severity of functional impairment in children with ADHD. Copyright © 2017 Elsevier B.V. All rights reserved.

Attention Deficit/Hyperactivity Disorder in Children and Adolescents with Autism Spectrum Disorder: Symptom or Syndrome?

ERIC Educational Resources Information Center

Sinzig, Judith; Walter, Daniel; Doepfner, Manfred

2009-01-01

Objective: This study aims to evaluate ADHD-like symptoms in children with autism spectrum disorder (ASD) based on single-item analysis, as well as the comparison of two ASD subsamples of children with ADHD (ASD+) and without ADHD (ASD-). Methods: Participants are 83 children with ASD. Dimensional and categorical aspects of ADHD are evaluated…

Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

PubMed

Baeza-Velasco, Carolina; Sinibaldi, Lorenzo; Castori, Marco

2018-02-14

Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome. A comprehensive search of scientific databases and references lists was conducted, encompassing publications based on qualitative and quantitative research. Impaired coordination and proprioception, fatigue, chronic pain, and dysautonomia are identified as potential bridges between ADHD and JH. Based on these findings, a map of the pathophysiological and psychopathological pathways connecting both conditions is proposed. Although ADHD and JH are traditionally separated human attributes, their association may testify for the dyadic nature of mind-body connections during critical periods of post-natal development. Such a mixed picture has potentially important consequences in terms of disability and deserves more clinical and research attention.

Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome.

PubMed

Hederstierna, Christina; Hultcrantz, Malou; Rosenhall, Ulf

2009-06-01

Turner syndrome is a chromosomal aberration affecting 1:2000 newborn girls, in which all or part of one X chromosome is absent. This leads to ovarial dysgenesis and little or no endogenous estrogen production. These women have, among many other syndromal features, a high occurrence of ear and hearing problems, and neurocognitive dysfunctions, including reduced visual-spatial abilities; it is assumed that estrogen deficiency is at least partially responsible for these problems. In this, study 30 Turner women aged 40-67, with mild to moderate hearing loss, performed a battery of hearing tests aimed at localizing the lesion causing the sensorineural hearing impairment and assessing central auditory function, primarily sound localization. The results of TEOAE, ABR and speech recognition scores in noise were all indicative of cochlear dysfunction as the cause of the sensorineural impairment. Phase audiometry, a test for sound localization, showed mild disturbances in the Turner women compared to the reference group, suggesting that auditory-spatial dysfunction is another facet of the recognized neurocognitive phenotype in Turner women.

Effective methylphenidate treatment of an adult Aspergers Syndrome and a comorbid ADHD: a clinical investigation with fMRI.

PubMed

Roy, Mandy; Dillo, Wolfgang; Bessling, Svenja; Emrich, Hinderk M; Ohlmeier, Martin D

2009-01-01

Aspergers Syndrome can present as comorbid with attention-deficit/hyperactivity disorder (ADHD). Very few cases of the assessment and treatment of this comorbidity in adulthood are described in the research literature. A 26-year-old patient as suffering from ADHD in combination with Aspergers Syndrome is diagnosed. Treatment is started with methylphenidate (MPH), and the patient's clinical response is observed, psychological tests concerning attention are analyzed, and a functional magnetic resonance imaging (fMRI) examination is performed during an attention-task. On the functional magnetic resonance imaging, a reduction of cerebral activity bilaterally in the parietal lobe under the influence of MPH is detected. Besides the neurophysiological findings, this case reports the complex impairment caused by the combination of AD/HD with Aspergers Syndrome and the broad social and behavioral benefits of treatment with MPH for this comorbidity.

Differences in the profile of neonatal abstinence syndrome signs in methadone- versus buprenorphine-exposed neonates

PubMed Central

Gaalema, Diann E.; Scott, Teresa Linares; Heil, Sarah H.; Coyle, Mara G.; Kaltenbach, Karol; Badger, Gary J.; Arria, Amelia M.; Stine, Susan M.; Martin, Peter R.; Jones, Hendrée E.

2014-01-01

Aims To compare the profile of signs of neonatal abstinence syndrome (NAS) in methadone- versus buprenorphine-exposed infants. Design, setting and participants Secondary analysis of NAS data from a multi-site, double-blind, double-dummy, flexible-dosing, randomized clinical trial. Data from a total of 129 neonates born to opioid-dependent women who had been assigned to receive methadone or buprenorphine treatment during pregnancy were examined. Measurements For 10 days after delivery, neonates (methadone = 72, buprenorphine = 57) were assessed regularly using a 19-item modified Finnegan scale. Data from neonates who required pharmacological treatment (methadone = 41, buprenorphine = 27) were included up to the time treatment was initiated. The incidence and mean severity of the total NAS score and each individual sign of NAS were calculated and compared between medication conditions, as was the median time until morphine treatment initiation among treated infants in each condition. Findings Two NAS signs (undisturbed tremors and hyperactive Moro reflex) were observed significantly more frequently in methadone-exposed neonates and three (nasal stuffiness, sneezing, loose stools) were observed more frequently in buprenorphine-exposed neonates. Mean severity scores on the total NAS score and five individual signs (disturbed and undisturbed tremors, hyperactive Moro reflex, excessive irritability, failure to thrive) were significantly higher among methadone-exposed neonates, while sneezing was higher among buprenorphine-exposed neonates. Among treated neonates, methadone-exposed infants required treatment significantly earlier than buprenorphine-exposed infants (36 versus 59 hours postnatal, respectively). Conclusions The profile of neonatal abstinence syndrome differs in methadone- versus buprenorphine-exposed neonates, with significant differences in incidence, severity and treatment initiation time. Overall, methadone-exposed neonates have a more severe neonatal abstinence syndrome. PMID:23106927

Botulinum neurotoxin type A injections for vaginismus secondary to vulvar vestibulitis syndrome.

PubMed

Bertolasi, Laura; Frasson, Emma; Cappelletti, Jee Yun; Vicentini, Silvana; Bordignon, Monia; Graziottin, Alessandra

2009-11-01

To investigate whether botulinum neurotoxin type A improves vaginismus and study its efficacy with repeated treatments. Outpatients were referred because standard cognitive-behavioral and medical treatment for vaginismus and vulvar vestibular syndrome failed. From this group, we prospectively recruited consecutive women (n=39) whose diagnostic electromyogram (EMG) recordings from the levator ani muscle showed hyperactivity at rest and reduced inhibition during straining. These women were followed for a mean (+/-standard deviation) of 105 (+/-50) weeks. Recruited patients underwent repeated cycles of botulinum neurotoxin type A injected into the levator ani under EMG guidance and EMG monitoring thereafter. At enrollment and 4 weeks after each cycle, women were asked about sexual intercourse; underwent EMG evaluation and examinations to grade vaginal resistance according to Lamont; and completed a visual analog scale (VAS) for pain, the Female Sexual Function Index Scale, a quality-of-life questionnaire (Short-Form 12 Health Survey), and bowel and bladder symptom assessment. At 4 weeks after the first botulinum neurotoxin type A cycle, the primary outcome measures (the possibility of having sexual intercourse, and levator ani EMG hyperactivity) both improved, as did the secondary outcomes, Lamont scores, VAS, Female Sexual Function Index Scales, Short-Form 12 Health Survey, and bowel-bladder symptoms. These benefits persisted through later cycles. When follow-up ended, 63.2% of the patients completely recovered from vaginismus and vulvar vestibular syndrome, 15.4% still needed reinjections (censored), and 15.4% had dropped out. Botulinum neurotoxin type A is an effective treatment option for vaginismus secondary to vulvar vestibular syndrome refractory to standard cognitive-behavioral and medical management. After patients received botulinum neurotoxin type A, their sexual activity improved and reinjections provided sustained benefits. III.

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review.

PubMed

Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-06-01

TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients' laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome.

Primary graft dysfunction of the liver: definitions, diagnostic criteria and risk factors.

PubMed

Neves, Douglas Bastos; Rusi, Marcela Balbo; Diaz, Luiz Gustavo Guedes; Salvalaggio, Paolo

2016-01-01

Primary graft dysfunction is a multifactorial syndrome with great impact on liver transplantation outcomes. This review article was based on studies published between January 1980 and June 2015 and retrieved from PubMed database using the following search terms: "primary graft dysfunction", "early allograft dysfunction", "primary non-function" and "liver transplantation". Graft dysfunction describes different grades of graft ischemia-reperfusion injury and can manifest as early allograft dysfunction or primary graft non-function, its most severe form. Donor-, surgery- and recipient-related factors have been associated with this syndrome. Primary graft dysfunction definition, diagnostic criteria and risk factors differ between studies. RESUMO A disfunção primária do enxerto hepático é uma síndrome multifatorial com grande impacto no resultado do transplante de fígado. Foi realizada uma ampla revisão da literatura, consultando a base de dados PubMed, em busca de estudos publicados entre janeiro de 1980 e junho de 2015. Os termos descritivos utilizados foram: "primary graft dysfunction", "early allograft dysfunction", "primary non-function" e "liver transplantation". A disfunção traduz graus diferentes da lesão de isquemia e reperfusão do órgão, e pode se manifestar como disfunção precoce ou, na forma mais grave, pelo não funcionamento primário do enxerto. Fatores relacionados ao doador, ao transplante e ao receptor contribuem para essa síndrome. Existem definições diferentes na literatura quanto ao diagnóstico e aos fatores de risco associados à disfunção primária.

Phenotypic expression of polycystic ovary syndrome in South Asian women.

PubMed

Mehta, Jaya; Kamdar, Vikram; Dumesic, Daniel

2013-03-01

Polycystic ovary syndrome (PCOS) occurs in 6% to 10% of women and, as the most common worldwide endocrinopathy of reproductive-aged women, is linked to a constellation of reproductive and metabolic abnormalities, including anovulatory infertility, hirsutism, acne, and insulin resistance in association with metabolic syndrome. Despite a genetic component to PCOS, ethnicity plays an important role in the phenotypic expression of PCOS, with South Asian PCOS women having more severe reproductive and metabolic symptoms than other ethnic groups. South Asians with PCOS seek medical care at an earlier age for reproductive abnormalities; have a higher degree of hirsutism, infertility, and acne; and experience lower live birth rates following in vitro fertilization than do whites with PCOS. Similarly, South Asians with PCOS have a higher prevalence of insulin resistance and metabolic syndrome than do other PCOS-related ethnic groups of a similar body mass index. Inheritance of PCOS appears to have a complex genetic basis, including genetic differences based on ethnicity, which interact with lifestyle and other environmental factors to affect PCOS phenotypic expression. Obstetricians and Gynecologists, Family Physicians Learning Objectives: After completing this CME activity, physicians should be better able to state an ethnic difference in reproductive dysfunction between South Asian and white women with polycystic ovary syndrome (PCOS), state an ethnic difference in metabolic dysfunction between South Asian and white women with PCOS, identify a genetic abnormality found in South Asian women with PCOS, and list 2 environmental factors that predispose South Asian women to metabolic dysfunction.

Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome.

PubMed

Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

2014-12-26

Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

ROHHAD in a 9-year-old boy — clinical case.

PubMed

Kot, Karolina; Moszczyńska, Elżbieta; Lecka-Ambroziak, Agnieszka; Migdał, Marek; Szalecki, Mieczysław

2016-01-01

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome. ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team.

Postconcussion Syndrome: A Review.

PubMed

Barlow, Karen M

2016-01-01

Postconcussion syndrome is a symptom complex with a wide range of somatic, cognitive, sleep, and affective features, and is the most common consequence of traumatic brain injury. Between 14% and 29% of children with mild traumatic brain injury will continue to have postconcussion symptoms at 3 months, but the pathophysiological mechanisms driving this is poorly understood. The relative contribution of injury factors to postconcussion syndrome decreases over time and, instead, premorbid factors become important predictors of symptom persistence by 3 to 6 months postinjury. The differential diagnoses include headache disorder, cervical injury, anxiety, depression, somatization, vestibular dysfunction, and visual dysfunction. The long-term outcome for most children is good, although there is significant morbidity in the short term. Management strategies target problematic symptoms such as headaches, sleep and mood disturbances, and cognitive complaints. © The Author(s) 2014.

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

PubMed

Saitsu, Hirotomo; Tohyama, Jun; Walsh, Tom; Kato, Mitsuhiro; Kobayashi, Yu; Lee, Ming; Tsurusaki, Yoshinori; Miyake, Noriko; Goto, Yu-Ichi; Nishino, Ichizo; Ohtake, Akira; King, Mary-Claire; Matsumoto, Naomichi

2014-10-01

Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.

Frailty syndrome in patients with heart rhythm disorders.

PubMed

Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

2017-09-01

To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

Subthreshold attention-deficit/hyperactivity disorder is associated with functional impairments across domains: a comprehensive analysis in a large-scale community study.

PubMed

Hong, Soon-Beom; Dwyer, Dominic; Kim, Jae-Won; Park, Eun-Jin; Shin, Min-Sup; Kim, Boong-Nyun; Yoo, Hee-Jeong; Cho, In-Hee; Bhang, Soo-Young; Hong, Yun-Chul; Pantelis, Christos; Cho, Soo-Churl

2014-08-01

This study compared children who experience attention-deficit/hyperactivity disorder (ADHD) symptoms but do not meet criteria (i.e., subthreshold ADHD) with those with the full syndrome and healthy controls. Presence of ADHD symptoms was determined in a nationwide community sample of 921 children, aged 8-11 years. The main outcome measures comprised attentional symptoms, comorbidity profiles, academic performance, and neurocognitive ability (i.e., ADHD Rating Scale, Child Behavior Checklist, Learning Disability Evaluation Scale, and Stroop Color-Word Test, respectively). Subthreshold ADHD was equally prevalent in boys and girls, and more prevalent in low-income families. Throughout all the outcome measurements, subthreshold ADHD was both a significantly milder condition than full syndrome ADHD and a significantly more severe condition than non-ADHD status. The findings were consistent across the total as well as the subtest scores, and after correction for multiple comparisons (p < 0.0017). Children with subthreshold ADHD were found to experience significant symptoms and functional impairments. The results of this study support the clinical relevance of subthreshold ADHD in a childhood population. Subthreshold diagnostic criteria for ADHD may be more sensitive in detecting ADHD symptoms in girls than the full syndrome criteria, and subthreshold clinical, cognitive, and behavioral symptoms of ADHD may occur in a subset of children who are possibly more sensitive to their environment. Further consideration about the diagnostic threshold for ADHD may particularly benefit girls and children in low-income families.

[Urine metabonomic study on hypertension patients of ascendant hyperactivity of gan yang syndrome by high performance liquid chromatography coupled with time of flight mass spectrometry].

PubMed

Jiang, Hai-Qiang; Li, Yun-Lun; Xie, Jun

2012-03-01

To study the changes of urine metabolites in hypertension patients of ascendant hyperactivity of Gan yang syndrome (AHGYS), and to explore its essence in hypertension patients. Ten typical hypertension patients of AHGYS were recruited as the patient group, and the other twelve healthy volunteers were recruited as the normal group. The metabolite profiling in the urine were collected using by high performance liquid chromatography coupled with time of flight mass spectrometry (HPLC-TOFMS). The principal component analysis (PCA) and partial least-square discriminant analysis (PLS-DA) were analyzed using SIMCA-P Software. The differential metabolites in the urine were found out and identified. The possible relevant metabolic pathways were explained. The data from the analysis by PCA in the urine samples of the patient group and the normal group showed, two sets of data could be obviously classified in the score plot. Compared with the normal group, significant changes happened to the body metabolism in the patient group. The metabolites relevant to hypertension patients of AHGYS were determined using the PLS-DA. Fifteen compounds of the structure and metabolic pathways had been confirmed through inquiring KEGG Database, mainly including amino acids, free fatty acids, sphingosine, and so on. The hypertension patients of AHGYS were studied using HPLC-TOFMS combined with pattern recognition, thus finding out small molecular metabolic markers from the microscopic field, which was advantageous in probing the biological nature of Chinese medicine syndromes.

Attention Deficit Hyperactive Disorder and Occurrence of Tic Disorders in Children and Adolescents-What is the Verdict.

PubMed

Cooke, Tommi; So, Tsz-Yin

2016-01-01

The United States Food and Drug Administration currently states that the use of stimulants in patients with tic disorders and/or family history of tic disorders including Tourette's syndrome is contraindicated. Patients with attention deficit hyperactivity disorder (ADHD), however, are at increased risk of tics regardless of stimulants use. After evaluating the most recent literature on the incidence of tic disorders in pediatric patients treated with stimulants for ADHD, it is reasonable to say that the incidence of tics and the severity of tics are not increased by the use of these medications. For patients with pre-existing tic disorders, the usual recommended dosing of stimulants should be used because supratherapeutic doses of this class of medications, specifically dextroamphetamine, have shown to exacerbate tic disorders.

[Atomoxetine and piracetam in the treatment of attention deficit hyperactivity disorder in children].

PubMed

Zavadenko, N N; Suvorinova, N Iu

2008-01-01

Therapeutic effect of atomoxetine and piracetam has been assessed in the open controlled study included 42 patients with attention deficit hyperactivity disorder (ADHD), aged from 6 to 13 years. Group 1 (16 patients) received atomoxetine (strattera) in daily dosage 0,8-1,2 mg/kg as a monotherapy for 6 weeks. Patients of group 2 (14 children) received piracetam as a monotherapy in daily dosage 50-70 mg/kg for 6 weeks. No pharmacological therapy was conducted in group 3 (a control one) which included 12 patients with ADHD. The high effectiveness of both atomoxetine and piracetam has been shown. However, comparing to piracetam, the therapeutic effect of atomoxetine was reached earlier (two weeks after the beginning of therapy) and was more pronounced for all components of syndromes.

Exaggerated Cap-Dependent Translation as a Mechanism for Corticostriatal Dysfunction in Fragile X Syndrome Model Mice

DTIC Science & Technology

2016-10-01

AWARD NUMBER: W81XWH-15-1-0361 TITLE: Exaggerated Cap- Dependent Translation as a Mechanism for Corticostriatal Dysfunction in Fragile X Syndrome...DATES  COVERED 09/30/2015-09/29/2016 4. TITLE  AND  SUBTITLE 5a.  CONTRACT  NUMBER   Exaggerated Cap- Dependent Translation as a Mechanism for...cap-­ dependent  translation  inhibitors.  Our  specific  tasks   are  centered  on  a  proteomic  study  of  FXS  striatal  synapses  by  using  a

Investigation of the Plausibility of 5-Alpha-Reductase Inhibitor Syndrome

PubMed Central

Fertig, Raymond; Shapiro, Jerry; Bergfeld, Wilma; Tosti, Antonella

2017-01-01

Postfinasteride syndrome (PFS) is a term recently coined to characterize a constellation of reported undesirable side effects described in postmarketing reports and small uncontrolled studies that developed during or after stopping finasteride treatment, and persisted after drug discontinuation. Symptoms included decreased libido, erectile dysfunction, sexual anhedonia, decreased sperm count, gynecomastia, skin changes, cognitive impairment, fatigue, anxiety, depression, and suicidal ideation. The aim of this study is to review the existing medical literature for evidence-based research of permanent sexual dysfunction and mood changes during treatment with 5-alpha-reductase inhibitors including finasteride and dutasteride. PMID:28232919

Pharmacotherapy for Irritable Bowel Syndrome

PubMed Central

Camilleri, Michael

2017-01-01

Irritable bowel syndrome (IBS) is a disorder of the brain-gut axis; the pathophysiological mechanisms include altered colonic motility, bile acid metabolism, neurohormonal regulation, immune dysfunction, alterations in the epithelial barrier and secretory properties of the gut. This article reviews the mechanisms, efficacy, and safety of current pharmacotherapy, and medications that are in phase III trials for the treatment of IBS. There remains a significant unmet need for effective treatments—particularly for the pain component of IBS—although the introduction of drugs directed at secretion, motility and a non-absorbable antibiotic provide options for the bowel dysfunction in IBS. PMID:29077050

Imaging functional and structural brain connectomics in attention-deficit/hyperactivity disorder.

PubMed

Cao, Miao; Shu, Ni; Cao, Qingjiu; Wang, Yufeng; He, Yong

2014-12-01

Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopment disorders in childhood. Clinically, the core symptoms of this disorder include inattention, hyperactivity, and impulsivity. Previous studies have documented that these behavior deficits in ADHD children are associated with not only regional brain abnormalities but also changes in functional and structural connectivity among regions. In the past several years, our understanding of how ADHD affects the brain's connectivity has been greatly advanced by mapping topological alterations of large-scale brain networks (i.e., connectomes) using noninvasive neurophysiological and neuroimaging techniques (e.g., electroencephalograph, functional MRI, and diffusion MRI) in combination with graph theoretical approaches. In this review, we summarize the recent progresses of functional and structural brain connectomics in ADHD, focusing on graphic analysis of large-scale brain systems. Convergent evidence suggests that children with ADHD had abnormal small-world properties in both functional and structural brain networks characterized by higher local clustering and lower global integrity, suggesting a disorder-related shift of network topology toward regular configurations. Moreover, ADHD children showed the redistribution of regional nodes and connectivity involving the default-mode, attention, and sensorimotor systems. Importantly, these ADHD-associated alterations significantly correlated with behavior disturbances (e.g., inattention and hyperactivity/impulsivity symptoms) and exhibited differential patterns between clinical subtypes. Together, these connectome-based studies highlight brain network dysfunction in ADHD, thus opening up a new window into our understanding of the pathophysiological mechanisms of this disorder. These works might also have important implications on the development of imaging-based biomarkers for clinical diagnosis and treatment evaluation in ADHD.

Amphetamine sensitisation and memory in healthy human volunteers: a functional magnetic resonance imaging study.

PubMed

O'Daly, Owen G; Joyce, Daniel; Tracy, Derek K; Stephan, Klaas E; Murray, Robin M; Shergill, Sukhwinder

2014-09-01

Amphetamine sensitisation (AS) is an established animal model of the hypersensitivity to psychostimulants seen in patients with schizophrenia. AS also models the dysregulation of mesolimbic dopamine signalling which has been implicated in the development of psychotic symptoms. Recent data suggest that the enhanced excitability of mesolimbic dopamine neurons in AS is driven by a hyperactivity of hippocampal (subiculum) neurons, consistent with a strong association between hippocampal dysfunction and schizophrenia. While AS can be modelled in human volunteers, its functional consequences on dopaminoceptive brain regions (i.e. striatum and hippocampus) remains unclear. Here we describe the effects of a sensitising dosage pattern of dextroamphetamine on the neural correlates of motor sequence learning in healthy volunteers, within a randomised, double-blind, parallel-groups design. Behaviourally, sensitisation was characterised by enhanced subjective responses to amphetamine but did not change performance (i.e. learning rate) during an explicit sequence learning task. In contrast, functional magnetic resonance imaging (fMRI) measurements showed that repeated intermittent amphetamine exposure was associated with increased blood-oxygen-level dependent (BOLD) signal within the medial temporal lobe (MTL) (subiculum/entorhinal cortex) and midbrain, in the vicinity of the substantia nigra/ventral tegmental area (SN/VTA) during sequence encoding. Importantly, MTL hyperactivity correlated with the sensitisation of amphetamine-induced attentiveness. The MTL-midbrain hyperactivity reported here mirrors observations in sensitised rodents and is consistent with contemporary models of schizophrenia and behavioural sensitisation. These findings of meso-hippocampal hyperactivity during AS thus link pathophysiological concepts of dopamine dysregulation to cognitive models of psychosis. © The Author(s) 2014.

Use of Cognitive Behavioral Therapy and Token Economy to Alleviate Dysfunctional Behavior in Children with Attention-Deficit Hyperactivity Disorder.

PubMed

Coelho, Luzia Flavia; Barbosa, Deise Lima Fernandes; Rizzutti, Sueli; Muszkat, Mauro; Bueno, Orlando Francisco Amodeo; Miranda, Monica Carolina

2015-01-01

Medication has proved highly efficacious as a means of alleviating general symptoms of attention-deficit hyperactivity disorder (ADHD). However, many patients remain functionally impaired by inappropriate behavior. The present study analyzed the use of cognitive behavioral therapy (CBT) with the Token-Economy (TE) technique to alleviate problem behavior for 25 participants with ADHD, all children (19 boys, mean age 10.11) on long-term methylphenidate medication, who were given 20 CBT sessions with 10 weeks of TE introduced as of session 5. Their ten most acute problem behaviors were selected and written records kept. On weekdays, parents recorded each inappropriate behavior and provided a suitable model for their actions. At weekly sessions, problem behaviors were counted and incident-free participants rewarded with a token. To analyze improvement (less frequent problem behavior), a list of 11 behavioral categories was rated: inattention, impulsivity, hyperactivity, disorganization, disobeying rules and routines, poor self-care, verbal/physical aggression, low frustration tolerance, compulsive behavior, antisocial behavior, lacking in initiative and distraction. Two CBT specialists categorized behaviors and an ADHD specialist ruled on discrepancies. Statistical analyses used were Generalized Estimating Equations with Poisson distribution and autoregressive order correlation structure. In the course of the sessions, problematic behaviors decreased significantly in seven categories: impulsiveness, hyperactivity, disorganization, disobeying rules and routine, poor self-care, low frustration tolerance, compulsive behaviors, and antisocial behaviors. Caregiver attitudes to children's inappropriate behavior were discussed and reshaped. As functional improvement was observed on applying TE for 10 weeks, this type of intervention may be useful as an auxiliary strategy combined with medication.

Referral pattern and special interests in children and adolescents with Asperger syndrome: a Turkish referred sample.

PubMed

Tanidir, Canan; Mukaddes, Nahit M

2014-02-01

To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey. This study includes 61 children and adolescents diagnosed with Asperger syndrome using strict DSM-IV criteria. The mean age at first referral was 7.9 whereas the mean age when Asperger syndrome was diagnosed was 9.9, which is compatible with other studies. The most frequent reasons for the first referral were attention deficits, hyperactivity, and academic failure, and the most common special interest area was "electronic devices, computer, and technical interests". The types of special interests and referral reasons in our Asperger syndrome sample are very similar to the interest areas and referral reasons of individuals with Asperger syndrome from developed western countries indicating the universality of symptoms. It could be concluded that children and adolescents with Asperger syndrome may refer to mental health services with a variety of symptoms; therefore, it is important to make a detailed assessment of social difficulties especially in school-age children and adolescents for the differential diagnosis of Asperger syndrome.

Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome.

PubMed

Abbasi, Amanullah; Butt, Nazish; Sultan, Baseer; Munir, S M

2009-03-01

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia.

Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

ERIC Educational Resources Information Center

Bellon-Harn, Monica L.

2005-01-01

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

Fat embolism syndrome

PubMed Central

Richards, Robin R.

1997-01-01

Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonary, cerebral and cutaneous dysfunction and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Treatment of fat embolism syndrome consists of general supportive measures, including splinting, maintenance of fluid and electrolyte balance and the administration of oxygen. Endotracheal intubation and mechanical ventilatory assistance can be indicated. The role of corticosteroids remains controversial. Early stabilization of long bone fractures has been shown to decrease the incidence of pulmonary complications. Clinical and experimental studies suggest that the exact method of fracture fixation plays a minor role in the development of pulmonary dysfunction. As more is learned about the specifics of the various triggers for the development of fat embolism syndrome, it is hoped that the prospect of more specific therapy for the prevention and treatment of this disorder will become a reality. PMID:9336522

[Irritable bowel syndrome, levator ani syndrome, proctalgia fugax and chronic pelvic and perineal pain].

PubMed

Watier, Alain; Rigaud, Jérôme; Labat, Jean-Jacques

2010-11-01

To define functional gastrointestinal pain, irritable bowel syndrome (IBS), levator ani syndrome, proctalgia fugax, the pathophysiology of these syndromes and the treatments that can be proposed. Review of articles published on the theme based on a Medline (PubMed) search and consensus conferences selected according to their scientific relevance. IBS is very common. Patients report abdominal pain and/or discomfort, bloating, and abnormal bowel habit (diarrhoea, constipation or both), in the absence of any structural or biochemical abnormalities. IBS has a complex, multifactorial pathophysiology, involving biological and psychosocial interactions resulting in dysregulation of the brain-gut axis associated with disorders of intestinal motility, hyperalgesia, immune disorders and disorders of the intestinal bacterial microflora and autonomic and hormonal dysfunction. Many treatments have been proposed, ranging from diet to pharmacology and psychotherapy. Patients with various types of chronic pelvic and perineal pain, especially those seen in urology departments, very often report associated IBS. This syndrome is also part of a global and integrated concept of pelviperineal dysfunction, avoiding a rigorous distinction between the posterior segment and the midline and anterior segments of the perineum. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Mitochondria-Targeted Antioxidant Prevents Cardiac Dysfunction Induced by Tafazzin Gene Knockdown in Cardiac Myocytes

PubMed Central

He, Quan; Harris, Nicole; Ren, Jun; Han, Xianlin

2014-01-01

Tafazzin, a mitochondrial acyltransferase, plays an important role in cardiolipin side chain remodeling. Previous studies have shown that dysfunction of tafazzin reduces cardiolipin content, impairs mitochondrial function, and causes dilated cardiomyopathy in Barth syndrome. Reactive oxygen species (ROS) have been implicated in the development of cardiomyopathy and are also the obligated byproducts of mitochondria. We hypothesized that tafazzin knockdown increases ROS production from mitochondria, and a mitochondria-targeted antioxidant prevents tafazzin knockdown induced mitochondrial and cardiac dysfunction. We employed cardiac myocytes transduced with an adenovirus containing tafazzin shRNA as a model to investigate the effects of the mitochondrial antioxidant, mito-Tempo. Knocking down tafazzin decreased steady state levels of cardiolipin and increased mitochondrial ROS. Treatment of cardiac myocytes with mito-Tempo normalized tafazzin knockdown enhanced mitochondrial ROS production and cellular ATP decline. Mito-Tempo also significantly abrogated tafazzin knockdown induced cardiac hypertrophy, contractile dysfunction, and cell death. We conclude that mitochondria-targeted antioxidant prevents cardiac dysfunction induced by tafazzin gene knockdown in cardiac myocytes and suggest mito-Tempo as a potential therapeutic for Barth syndrome and other dilated cardiomyopathies resulting from mitochondrial oxidative stress. PMID:25247053

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome.

PubMed

Valenti, Daniela; de Bari, Lidia; De Filippis, Bianca; Henrion-Caude, Alexandra; Vacca, Rosa Anna

2014-10-01

Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors. Until now, the causative mechanism leading to intellectual disability is unknown and the progression of the condition is poorly understood. We first report latest advances on genetic and environmental regulation of mitochondrial function and its role in brain development. Starting from the structure, function and regulation of the oxidative phosphorylation apparatus, we review how mitochondrial biogenesis and dynamics play a central role in neurogenesis and neuroplasticity. We then discuss how dysfunctional mitochondria and alterations in reactive oxygen species homeostasis are potentially involved in the pathogenesis of various neurodevelopmental syndromes with a special focus on Down, Rett, Fragile X syndromes and autism spectrum disorders. Finally, we review and suggest novel therapeutic approaches aimed at improving intellectual disability by activating mitochondrial function and reducing oxidative stress to amiliorate the quality of life in the subjects affected. Copyright © 2014 Elsevier Ltd. All rights reserved.

Carcinoid heart disease.

PubMed

Hassan, Saamir A; Banchs, Jose; Iliescu, Cezar; Dasari, Arvind; Lopez-Mattei, Juan; Yusuf, Syed Wamique

2017-10-01

Rare neuroendocrine tumours (NETs) that most commonly arise in the gastrointestinal tract can lead to carcinoid syndrome and carcinoid heart disease. Patients with carcinoid syndrome present with vasomotor changes, hypermotility of the gastrointestinal system, hypotension and bronchospasm. Medical therapy for carcinoid syndrome, typically with somatostatin analogues, can help control symptoms, inhibit tumour progression and prolong survival. Carcinoid heart disease occurs in more than 50% of these patients and is the initial presentation of carcinoid syndrome in up to 20% of patients. Carcinoid heart disease has characteristic findings of plaque-like deposits composed of smooth muscle cells, myofibroblasts, extracellular matrix and an overlying endothelial layer which can lead to valve dysfunction. Valvular dysfunction can lead to oedema, ascites and right-sided heart failure. Medical therapy of carcinoid heart disease is limited to symptom control and palliation. Valve surgery for carcinoid heart disease should be considered for symptomatic patients with controlled metastatic carcinoid syndrome. A multidisciplinary approach is needed to guide optimal management. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Parkinson's: a syndrome rather than a disease?

PubMed

Titova, Nataliya; Padmakumar, C; Lewis, Simon J G; Chaudhuri, K Ray

2017-08-01

Emerging concepts suggest that a multitude of pathology ranging from misfolding of alpha-synuclein to neuroinflammation, mitochondrial dysfunction, and neurotransmitter driven alteration of brain neuronal networks lead to a syndrome that is commonly known as Parkinson's disease. The complex underlying pathology which may involve degeneration of non-dopaminergic pathways leads to the expression of a range of non-motor symptoms from the prodromal stage of Parkinson's to the palliative stage. Non-motor clinical subtypes, cognitive and non-cognitive, have now been proposed paving the way for possible subtype specific and non-motor treatments, a key unmet need currently. Natural history of these subtypes remains unclear and need to be defined. In addition to in vivo biomarkers which suggest variable involvement of the cholinergic and noradrenergic patterns of the Parkinson syndrome, abnormal alpha-synuclein accumulation have now been demonstrated in the gut, pancreas, heart, salivary glands, and skin suggesting that Parkinson's is a multi-organ disorder. The Parkinson's phenotype is thus not just a dopaminergic motor syndrome, but a dysfunctional multi-neurotransmitter pathway driven central and peripheral nervous system disorder that possibly ought to be considered a syndrome and not a disease.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

PubMed

Chao, Hsiao-Tuan; Chen, Hongmei; Samaco, Rodney C; Xue, Mingshan; Chahrour, Maria; Yoo, Jong; Neul, Jeffrey L; Gong, Shiaoching; Lu, Hui-Chen; Heintz, Nathaniel; Ekker, Marc; Rubenstein, John L R; Noebels, Jeffrey L; Rosenmund, Christian; Zoghbi, Huda Y

2010-11-11

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features of autism, especially stereotyped behaviours. The mechanisms mediating these features are poorly understood. Here we show that mice lacking Mecp2 from GABA (γ-aminobutyric acid)-releasing neurons recapitulate numerous Rett syndrome and autistic features, including repetitive behaviours. Loss of MeCP2 from a subset of forebrain GABAergic neurons also recapitulates many features of Rett syndrome. MeCP2-deficient GABAergic neurons show reduced inhibitory quantal size, consistent with a presynaptic reduction in glutamic acid decarboxylase 1 (Gad1) and glutamic acid decarboxylase 2 (Gad2) levels, and GABA immunoreactivity. These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes.

Cardiometabolic Risk and Female Sexuality-Part I. Risk Factors and Potential Pathophysiological Underpinnings for Female Vasculogenic Sexual Dysfunction Syndromes.

PubMed

Maseroli, Elisa; Scavello, Irene; Vignozzi, Linda

2018-05-02

Erectile dysfunction is recognized as an opportunity for preventing cardiovascular (CV) events, and assessing the impairment of penile vascular flow by Doppler ultrasound is an important tool to ascertain CV risk. Conversely, the role of genital vascular impairment in the pathophysiology of female sexual dysfunction (FSD) remains contentious. To focus on the current scientific support for an association between CV risk factors and female sexual health in the 1st part of a 2-part review. A thorough literature search of peer-reviewed publications on the associations between CV risk factors and FSD and their underlying mechanisms was performed using the PubMed database. We present a summary of the evidence from clinical studies and discuss the possible mechanisms providing the pathophysiologic bases of vasculogenic FSD syndromes. The peripheral sexual response in women is a vascular-dependent event, and evidence suggests that cardiometabolic-related perturbations in endothelial function can determine vascular insufficiency in female genital tissues. Although epidemiologic and observational studies demonstrate that the prevalence of FSD is higher in women with diabetes mellitus, a cause-effect relation between these clinical conditions cannot be assumed. Evidence on the effect of obesity, metabolic syndrome, and polycystic ovary syndrome on sexual function in women is controversial. Data on the associations of dyslipidemia and hypertension with FSD are limited. Common cardiometabolic alterations could affect vascular function in the female genital tract. Based on limited data, there is an association between CV risk factors and female sexual health in women; however, this association appears milder than in men. Maseroli E, Scavello I, Vignozzi L. Cardiometabolic Risk and Female Sexuality-Part I. Risk Factors and Potential Pathophysiological Underpinnings for Female Vasculogenic Sexual Dysfunction Syndromes. Sex Med Rev 2018;X:XXX-XXX. Copyright © 2018 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type.

PubMed

Hakim, Alan; De Wandele, Inge; O'Callaghan, Chris; Pocinki, Alan; Rowe, Peter

2017-03-01

Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems. Other problems that commonly contribute to fatigue in EDS include sleep disorders, chronic pain, deconditioning, cardiovascular autonomic dysfunction, bowel and bladder dysfunction, psychological issues, and nutritional deficiencies. While there is no specific pharmacological treatment for fatigue, many medications are effective for specific symptoms (such as headache, menstrual dysfunction, or myalgia) and for co-morbid conditions that result in fatigue, including orthostatic intolerance and insomnia. Comprehensive treatment of fatigue needs to also evaluate for biomechanical problems that are common in EDS, and usually involves skilled physical therapy and attention to methods to prevent deconditioning. In addition to managing specific symptoms, treatment of fatigue in EDS also needs to focus on maintaining function and providing social, physical, and nutritional support, as well as providing on-going medical evaluation of new problems and review of new evidence about proposed treatments. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome.

PubMed

Ronesi, Jennifer A; Collins, Katie A; Hays, Seth A; Tsai, Nien-Pei; Guo, Weirui; Birnbaum, Shari G; Hu, Jia-Hua; Worley, Paul F; Gibson, Jay R; Huber, Kimberly M

2012-01-22

Enhanced metabotropic glutamate receptor subunit 5 (mGluR5) function is causally associated with the pathophysiology of fragile X syndrome, a leading inherited cause of intellectual disability and autism. Here we provide evidence that altered mGluR5-Homer scaffolds contribute to mGluR5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout (Fmr1(-/y)). In Fmr1(-/y) mice, mGluR5 was less associated with long Homer isoforms but more associated with the short Homer1a. Genetic deletion of Homer1a restored mGluR5-long Homer scaffolds and corrected several phenotypes in Fmr1(-/y) mice, including altered mGluR5 signaling, neocortical circuit dysfunction and behavior. Acute, peptide-mediated disruption of mGluR5-Homer scaffolds in wild-type mice mimicked many Fmr1(-/y) phenotypes. In contrast, Homer1a deletion did not rescue altered mGluR-dependent long-term synaptic depression or translational control of target mRNAs of fragile X mental retardation protein, the gene product of Fmr1. Our findings reveal new functions for mGluR5-Homer interactions in the brain and delineate distinct mechanisms of mGluR5 dysfunction in a mouse model of cognitive dysfunction and autism.

Polycystic Ovary Syndrome in the Pediatric Population

PubMed Central

2010-01-01

Abstract Polycystic ovary syndrome (PCOS) is a common disorder characterized by hyperandrogenism and disordered gonadotropin secretion, often associated with insulin resistance. The syndrome, which modulates both hormonal and metabolic processes, is the most common endocrinopathy in reproductive-age women and increases a woman's risk of infertility, endometrial pathology, and cardiometabolic disease. As it is currently defined, PCOS most likely encompasses several distinct diseases with similar clinical phenotypes but different underlying pathophysiological processes. However, hyperandrogenism remains the syndrome's clinical hallmark. The clinical manifestations of PCOS often emerge during childhood or in the peripubertal years, suggesting that the syndrome is influenced by fetal programming and/or early postnatal events. However, given that the full clinical spectrum of PCOS does not typically appear until puberty, a “two-hit” hypothesis has been proposed: (1) a girl develops hyperandrogenism via one or more of many different potential mechanisms; (2) the preexisting hyperandrogenism subsequently disturbs the hypothalamic–pituitary–ovarian axis, resulting in ovulatory dysfunction and sustained hyperandrogenism. No consensus guidelines exist regarding the diagnosis and management of PCOS in the pediatric population; however, because the syndrome is a diagnosis of exclusion, the clinical evaluation of girls suspected of having PCOS is aimed at excluding other causes of androgen excess and menstrual dysfunction. For the syndrome's management, emphasis is placed on lifestyle and symptom-directed treatment. PMID:20939704

Perinatal outcome in fetuses with heterotaxy syndrome and atrioventricular block or bradycardia.

PubMed

Escobar-Diaz, Maria C; Tworetzky, Wayne; Friedman, Kevin; Lafranchi, Terra; Fynn-Thompson, Francis; Alexander, Mark E; Mah, Douglas Y

2014-08-01

Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10-25%). However, information about perinatal outcome and predictors of non-survival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and 2011, and analyzed pre and post-natal variables. The primary outcome was death and the secondary outcome was pacemaker placement. Of the 154 fetuses with heterotaxy syndrome, 91 had polysplenia syndrome, 22/91(24%) with bradycardia or AV-block. Thirteen (59%) patients had sinus bradycardia at diagnosis, 8 (36%) complete AV block, and 1 (5%) second-degree AV-block. Three patients elected for termination of pregnancy (3/22, 14%), 4 had spontaneous fetal demise (4/22, 18%), and 15 (15/22, 68%) were live-born. Of the fetuses with bradycardia/AV-block, 30% presented with hydrops, 20% had ventricular rates <55 beats/min, and 10% had cardiac dysfunction. Excluding termination of pregnancy, 15/19 fetuses (79%) survived to birth. Among the 15 live-born patients, 4 had bradycardia and 11 had AV-block. A further 3 patients died in infancy, all with AV-block who required pacemakers in the neonatal period. Thus, the 1-year survival rate, excluding termination of pregnancy, was 63% (12/19). Of the remaining 12 patients, 9 required pacemaker. Predictors of perinatal death included hydrops (p < 0.0001), ventricular dysfunction (p = 0.002), prematurity (p = 0.04), and low ventricular rates (p = 0.04). In conclusion, we found a higher survival rate (63%) than previously published in patients with heterotaxy syndrome and AV block or bradycardia diagnosed prenatally. Hydrops, cardiac dysfunction, prematurity and low ventricular rates were predictors of death.

Perinatal Outcome in Fetuses with Heterotaxy Syndrome and Atrioventricular Block or Bradycardia

PubMed Central

Tworetzky, Wayne; Friedman, Kevin; Lafranchi, Terra; Fynn-Thompson, Francis; Alexander, Mark E.; Mah, Douglas Y.

2015-01-01

Congenital atrioventricular (AV) block is commonly associated with heterotaxy syndrome; together they have reportedly low survival rates (10–25 %). However, information about perinatal outcome and predictors of nonsurvival after prenatal diagnosis of this association is scarce. Therefore, we studied fetuses with heterotaxy syndrome and bradycardia or AV-block diagnosed between 1995 and 2011, and analyzed pre and post-natal variables. The primary outcome was death and the secondary outcome was pacemaker placement. Of the 154 fetuses with heterotaxy syndrome, 91 had polysplenia syndrome, 22/91(24 %) with bradycardia or AV-block. Thirteen (59 %) patients had sinus bradycardia at diagnosis, 8 (36 %) complete AV block, and 1 (5 %) second-degree AV-block. Three patients elected for termination of pregnancy (3/22, 14 %), 4 had spontaneous fetal demise (4/22, 18 %), and 15 (15/22, 68 %) were live-born. Of the fetuses with bradycardia/AV-block, 30 % presented with hydrops, 20 % had ventricular rates <55 beats/min, and 10 % had cardiac dysfunction. Excluding termination of pregnancy, 15/19 fetuses (79 %) survived to birth. Among the 15 live-born patients, 4 had bradycardia and 11 had AV-block. A further 3 patients died in infancy, all with AV-block who required pacemakers in the neonatal period. Thus, the 1-year survival rate, excluding termination of pregnancy, was 63 % (12/19). Of the remaining 12 patients, 9 required pacemaker. Predictors of perinatal death included hydrops (p < 0.0001), ventricular dysfunction (p = 0.002), prematurity (p = 0.04), and low ventricular rates (p = 0.04). In conclusion, we found a higher survival rate (63 %) than previously published in patients with heterotaxy syndrome and AV block or bradycardia diagnosed prenatally. Hydrops, cardiac dysfunction, prematurity and low ventricular rates were predictors of death. PMID:24509635

[Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

PubMed

Sarimski, Klaus

2018-05-01

We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

Aging and recurrent urinary tract infections are associated with bladder dysfunction in type 2 diabetes.

PubMed

Lin, Tzu-Li; Chen, Gin-Den; Chen, Yi-Ching; Huang, Chien-Ning; Ng, Soo-Cheen

2012-09-01

The objective of this study was to demonstrate the diversity of urodynamic findings and temporal effects on bladder dysfunction in diabetes as well as to evaluate the predisposing factors that attenuate the storage and voiding function of diabetic women. In this prospective study, 181 women with type 2 diabetes mellitus (DM) and lower urinary tract dysfunction underwent complete urogynecological evaluations and urodynamic studies. The patients' histories of DM and the treatment agents used were documented from chart records and interviews. The urodynamic diagnoses were recategorized into two groups for comparison, namely overactive detrusor (detrusor overactivity and/or increased bladder sensation as well as mixed incontinence) and voiding dysfunction (detrusor hyperactivity with insufficient contractility and detrusor underactivity with poor voiding efficiency) in order to evaluate the temporal effect of DM on diabetic bladder dysfunction. The development of bladder dysfunction showed a trend involving time-dependent progression, beginning with storage problems (i.e. advancing from urodynamic stress incontinence to detrusor overactivity and/or increased bladder sensation) and eventually led to impaired voiding function. The duration of DM relative to the urodynamic diagnoses of these women was longer in women with voiding dysfunction (6.8 ± 2.8 years with urodynamic stress incontinence, 7.3 ± 6.5 years with detrusor overactivity and/or increased bladder sensation, and 10.4 ± 8.3 years with women with voiding dysfunction). Notwithstanding these findings, stepwise logistic regression analysis indicated that age and recurrent urinary tract infections were the two independent factors associated with developing voiding dysfunction. The urodynamic study revealed a temporal effect on bladder function, and women with diabetic voiding dysfunction were found to have had a longer duration of DM than women with an overactive detrusor. However, aging and recurrent urinary tract infections are the two independent factors that contribute to impaired voiding function and diabetic bladder dysfunction. Copyright © 2012. Published by Elsevier B.V.

Cognitive dysfunction in depression - pathophysiology and novel targets.

PubMed

Carvalho, Andre F; Miskowiak, Kamilla K; Hyphantis, Thomas N; Kohler, Cristiano A; Alves, Gilberto S; Bortolato, Beatrice; G Sales, Paulo Marcelo; Machado-Vieira, Rodrigo; Berk, Michael; McIntyre, Roger S

2014-01-01

Major depressive disorder (MDD) is associated with cognitive dysfunction encompassing several domains, including memory, executive function, processing speed and attention. Cognitive deficits persist in a significant proportion of patients even in remission, compromising psychosocial functioning and workforce performance. While monoaminergic antidepressants may improve cognitive performance in MDD, most antidepressants have limited clinical efficacy. The overarching aims of this review were: (1) to synthesize extant literature on putative biological pathways related to cognitive dysfunction in MDD and (2) to review novel neurotherapeutic targets for cognitive enhancement in MDD. We found that reciprocal and overlapping biological pathways may contribute to cognitive dysfunction in MDD, including an hyperactive hypothalamic-pituitary-adrenal axis, an increase in oxidative and nitrosative stress, inflammation (e.g., enhanced production of pro-inflammatory cytokines), mitochondrial dysfunction, increased apoptosis as well as a diminished neurotrophic support. Several promising neurotherapeutic targets were identified such as minocycline, statins, anti-inflammatory compounds, N-acetylcysteine, omega-3 poliunsaturated fatty acids, erythropoietin, thiazolidinediones, glucagon-like peptide-1 analogues, S-adenosyl-l-methionine (SAMe), cocoa flavonols, creatine monohydrate and lithium. Erythropoietin and SAMe had pro-cognitive effects in randomized controlled trials (RCT) involving MDD patients. Despite having preclinical and/or preliminary evidences from trials suggesting possible efficacy as novel cognitive enhancing agents for MDD, no RCT to date was performed for most of the other therapeutic targets reviewed herein. In conclusion, multiple biological pathways are involved in cognitive dysfunction in MDD. RCTs testing genuinely novel pro-cognitive compounds for MDD are warranted.

High Risk for Severe Emotional Dysregulation in Psychiatrically Referred Youth with Autism Spectrum Disorder: A Controlled Study.

PubMed

Joshi, Gagan; Wozniak, Janet; Fitzgerald, Maura; Faraone, Stephen; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L; Conroy, Kristina; Kilcullen, J Ryan; Belser, Abigail; Biederman, Joseph

2018-04-19

To assess prevalence and severity of emotional dysregulation (ED) in psychiatrically referred youth with autism spectrum disorder (ASD). ASD youth (N = 123) were compared to youth with attention-deficit/hyperactivity disorder (ADHD) and controls. The majority of psychiatrically referred youth with ASD had positive Child Behavior Checklist-ED (CBCL-ED) profile that was significantly higher than in youth with ADHD (82 vs. 53%; p < 0.001). The severe emotional dysregulation (SED) profile was significantly greater in ASD youth than ADHD (44 vs. 15%; p < 0.001). In the presence of SED profile ASD youth suffered from greater severity of autism, associated psychopathology, and psychosocial dysfunction. Greater than expected prevalence of SED in psychiatrically referred youth with ASD that identifies distinct clinical correlates associated with severe morbidity and dysfunction.

Tics and tourette syndrome.

PubMed

Ganos, Christos; Martino, Davide

2015-02-01

Gilles de la Tourette syndrome is a common neuropsychiatric disorder spectrum with tics as the defining feature. Comorbidities such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder often complicate clinical presentation. Their recognition is paramount for the introduction of efficient treatment strategies to promote healthy development and good quality of life. Here, knowledge on the movement disorder of tics, the spectrum of associated comorbidities, and the list of differential diagnoses of tic disorders are summarized. Also, an account of the prevailing pathophysiologic models of tic generation is provided, and a concise update on contemporary treatment strategies is presented. Copyright © 2015 Elsevier Inc. All rights reserved.