Clinical education and student satisfaction: An integrative literature review

Directory of Open Access Journals (Sweden)

Karen F. Phillips, EdD, MSN, IBCLC, ICCE

2017-04-01

Full Text Available The clinical component of undergraduate clinical education is a critical area in nursing programs. Faculty shortages have made recruitment of clinical faculty and clinical teaching more challenging. As such, alternate models of clinical faculty assignments are being explored to address faculty shortages. This article contains an extensive literature review conducted to survey models of clinical education and student satisfaction with the clinical environment. The purpose of this paper is to examine student satisfaction in the clinical learning environment using articles employing the Clinical Learning Environment Inventory (CLEI along with examining the use of alternate clinical staffing models in differing levels of undergraduate nursing students. A literature search focusing on studies published between 2002 and 2015 was conducted from 5 electronic databases. Thirty-five articles were reviewed and 22 were selected for this literature review. The studies reviewed concluded that students favored a more positive and favorable clinical environment than they perceived as being actually present. A supportive clinical learning environment is of paramount importance in securing positive teaching learning outcomes. Nurse educators can apply the results of this review in order to develop and maintain quality clinical teaching and to promote a positive, student-centric, clinical learning environment.

Clinical Spectrum of Propionic Acidaemia

Directory of Open Access Journals (Sweden)

Muhammad Rafique

2013-01-01

Full Text Available Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA. Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85% of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia. Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.

Expanded clinical spectrum of enhanced S-cone syndrome

NARCIS (Netherlands)

Yzer, Suzanne; Barbazetto, Irene; Allikmets, Rando; van Schooneveld, Mary J.; Bergen, Arthur; Tsang, Stephen H.; Jacobson, Samuel G.; Yannuzzi, Lawrence A.

2013-01-01

New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. Retrospective, noncomparative case series of 31 patients examined

A review on the clinical spectrum and natural history of human influenza.

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Punpanich, Warunee; Chotpitayasunondh, Tawee

2012-10-01

The objective of this review is to provide updated information on the clinical spectrum and natural history of human influenza, including risk factors for severe disease, and to identify the knowledge gap in this area. We searched the MEDLINE database of the recent literature for the period January 2009 to August 17, 2011 with regard to the abovementioned aspects of human influenza, focusing on A(H1N1)pdm09 and seasonal influenza. The clinical spectrum and outcomes of cases of A(H1N1)pdm09 influenza have been mild and rather indistinguishable from those of seasonal influenza. Sporadic cases covering a wide range of neurological complications have been reported. Underlying predisposing conditions considered to be high-risk for A(H1N1)pdm09 infections are generally similar to those of seasonal influenza, but with two additional risk groups: pregnant women and the morbidly obese. Co-infections with bacteria and D222/N variants or 225G substitution of the viral genome have also been reported to be significant factors associated with the severity of disease. The current knowledge gap includes: (1) a lack of clarification regarding the relatively greater severity of the Mexican A(H1N1)pdm09 influenza outbreak in the early phase of the pandemic; (2) insufficient data on the clinical impact, risk factors, and outcomes of human infections caused by resistant strains of influenza; and (3) insufficient data from less developed countries that would enable them to prioritize strategies for influenza prevention and control. Clinical features and risk factors of A(H1N1)pdm09 are comparable to those of seasonal influenza. Emerging risk factors for severe disease with A(H1N1)pdm09 include morbid obesity, pregnancy, bacterial co-infections, and D222/N variants or 225G substitution of the viral genome. Copyright © 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Molecular detection of TEM broad spectrum β-lactamase in clinical ...

African Journals Online (AJOL)

Resistance to β-lactam antibiotics, along with clinical isolates, frequently results to production of β- lactamase enzymes. In recent years, the production of extended spectrum β-lactamases (ESBLs) among clinical isolates, especially Escherichia coli has greatly increased. On the other hand, β lactamase genes have several ...

The Prevalence of Internet Addiction among a Japanese Adolescent Psychiatric Clinic Sample with Autism Spectrum Disorder And/or Attention-Deficit Hyperactivity Disorder: A Cross-Sectional Study

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So, Ryuhei; Makino, Kazunori; Fujiwara, Masaki; Hirota, Tomoya; Ohcho, Kozo; Ikeda, Shin; Tsubouchi, Shouko; Inagaki, Masatoshi

2017-01-01

Extant literature suggests that autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are risk factors for internet addiction (IA). The present cross-sectional study explored the prevalence of IA among 132 adolescents with ASD and/or ADHD in a Japanese psychiatric clinic using Young's Internet Addiction Test. The…

Clinical Supervision in Undergraduate Nursing Students: A Review of the Literature

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Franklin, Natasha

2013-01-01

The concept of clinical supervision to facilitate the clinical education environment in undergraduate nursing students is well discussed within the literature. Despite the many models of clinical supervision described within the literature there is a lack of clear guidance and direction which clinical supervision model best suits the clinical…

Aggression in children with autism spectrum disorders and a clinic-referred comparison group

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Farmer, Cristan; Butter, Eric; Mazurek, Micah O.; Cowan, Charles; Lainhart, Janet; Cook, Edwin H.; DeWitt, Mary Beth; Aman, Michael

2015-01-01

A gap exists in the literature regarding aggression in autism spectrum disorders (ASD) and how this behavior compares to other groups. In this multisite study, the Children’s Scale for Hostility and Aggression: Reactive/Proactive (C-SHARP) and the Aggression subscale of the Child Behavior Checklist (CBCL) were rated for 414 children with ASD (Autistic Disorder, 69%; PDD-NOS, 24%; Asperger’s Disorder, 7%) and 243 clinic-referred children without ASD, aged 1-21 years (mean age about 7). Participants were not selected for aggressive behavior. Relative to the comparison group, children with ASD were reported to have less aggression and were more likely to be rated as reactive rather than proactive. Among all subjects, sex was not associated with aggression; higher IQ/adaptive behavior and older age were associated with more sophisticated types of aggression while lower scores on IQ, adaptive behavior, and communication measures were associated with more physical aggression. The interaction between demographic variables and diagnosis was significant only for age: younger but not older children with ASD showed less aggression than clinic-referred controls. PMID:24497627

Clinical nursing and midwifery research: grey literature in African countries.

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Sun, C; Dohrn, J; Omoni, G; Malata, A; Klopper, H; Larson, E

2016-03-01

This study reviewed grey literature to assess clinical nursing and midwifery research conducted in southern and eastern African countries over the past decade. The shortage of published nursing research from African countries severely limits the ability of practicing nurses and midwives to base clinical decisions on solid evidence. However, little is known regarding unpublished or unindexed clinical research ('grey literature'), a potentially rich source of information. Identifying these sources may reveal resources to assist nurses in providing evidence-based care. This scoping review of grey literature on clinical nursing and midwifery research in southern and eastern African countries helped to identify gaps in research and assess whether these gaps differ from published research. Systematic searches of grey literature were performed. Research was included if it was conducted by nurses in 1 of 25 southern or eastern African countries, between 2004 and 2014 and included patient outcomes. Data were extracted on location, institution, research topic, institutional connections and author information. Chi-square tests were performed to compare differences between indexed and non-indexed literature. We found 262 studies by 287 authors from 17 southern and eastern African countries covering 13 topics. Although all topics were also found in indexed literature and there were statistically significant differences between the number of times, fewer topics were covered in grey literature vs. indexed. Patient satisfaction and experience and traditional health practices were more likely to be published, whereas chronic disease, assault and paediatric-related research were less often published. Generally, there is a paucity of clinical nursing research in this region. This could reflect the shortage of nurses prepared to conduct research in this region. Nurses may find additional resources for evidence in the grey literature. A complete understanding of the state of nursing

Clinical leadership in pre-registration nursing programmes--an international literature review.

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Brown, Angela; Crookes, Patrick; Dewing, Jan

2015-01-01

Clinical leadership and the safety, quality and efficiency of patient/client care are inextricably linked in government reports, major inquiries and the professional literature. This review explores the literature on clinical leadership development within pre-registration nursing programmes. The literature retrieved from a scoping review was evaluated to identify what is already published on the development of clinical leadership within pre-registration nursing programmes. Twenty-seven publications matched the inclusion criteria and were included in this review, 14 journal articles, one thesis and 11 chapters within one book were analysed and three themes were identified: clinical leadership; curriculum content and pedagogy. RESULTS AND MAIN OUTCOMES: This review identified a paucity of literature specifically relating to clinical leadership and pre-registration nursing programmes and what is available is inconclusive and unconvincing. Academics, curriculum development leaders and accreditation bodies have a responsibility to influence how nurses are prepared for the profession as such clinical leadership and the new graduate should be considered an area of greater importance.

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

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Goh, Elaine Suk-Ying; Li, Chumei; Horsburgh, Sheri; Kasai, Yumi; Kolomietz, Elena; Morel, Chantal France

2010-02-01

Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented. Copyright 2010 Wiley-Liss, Inc.

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

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El Achkar, Christelle M; Spence, Sarah J

2015-06-01

The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure

International nursing students and what impacts their clinical learning: literature review.

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Edgecombe, Kay; Jennings, Michele; Bowden, Margaret

2013-02-01

This paper reviews the sparse literature about international nursing students' clinical learning experiences, and also draws on the literature about international higher education students' learning experiences across disciplines as well as nursing students' experiences when undertaking international clinical placements. The paper aims to identify factors that may impact international nursing students' clinical learning with a view to initiating further research into these students' attributes and how to work with these to enhance the students' clinical learning. Issues commonly cited as affecting international students are socialisation, communication, culture, relationships, and unmet expectations and aspirations. International student attributes tend to be included by implication rather than as part of the literature's focus. The review concludes that recognition and valuing of international nursing students' attributes in academic and clinical contexts are needed to facilitate effective strategies to support their clinical practice in new environments. Copyright © 2012. Published by Elsevier Ltd.

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

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Pedro C. Carricondo

2018-01-01

Full Text Available Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1 and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

[Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].

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Szczaluba, Krzysztof

2014-01-01

Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.

IncobotulinumtoxinA in clinical literature.

Science.gov (United States)

Lorenc, Z Paul; Kenkel, Jeffrey M; Fagien, Steven; Hirmand, Haideh; Nestor, Mark S; Sclafani, Anthony P; Sykes, Jonathan M; Waldorf, Heidi A

2013-03-01

IncobotulinumtoxinA is the third neurotoxin type A to be approved for aesthetic use in the United States. Because incobotulinumtoxinA has been in use in Europe for some time, the clinical literature is fairly replete with references to its properties and characteristics, as well as its safety and efficacy. In North America, 2 pivotal trials, referred to as GL-1 and GL-2, investigated the safety and efficacy of incobotulinumtoxinA in the glabellar region; both are currently in press with another journal. Other published studies of incobotulinumtoxinA are also described in depth in this article, including reports on aesthetic indications, diffusion, therapeutic indications, and studies pertaining to the preclinical and clinical pharmacology of incobotulinumtoxinA. Topics addressed include potency variability, mean concentration, stability and dissociation, and endopeptide immunoassay.

Aggression in Children with Autism Spectrum Disorders and a Clinic-Referred Comparison Group

Science.gov (United States)

Farmer, Cristan; Butter, Eric; Mazurek, Micah O.; Cowan, Charles; Lainhart, Janet; Cook, Edwin H.; DeWitt, Mary Beth; Aman, Michael

2015-01-01

A gap exists in the literature regarding aggression in autism spectrum disorders and how this behavior compares to other groups. In this multisite study, the "Children's Scale for Hostility and Aggression: Reactive/Proactive" and the Aggression subscale of the "Child Behavior Checklist" were rated for 414 children with autism…

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

DEFF Research Database (Denmark)

Semplicini, Claudio; Vissing, John; Dahlqvist, Julia R

2015-01-01

OBJECTIVE: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS: All LGMD2E patients followed in participating centers were included. A specific clinical protoc...

Oleander toxicity – the clinical spectrum and mortality predictors: an ...

African Journals Online (AJOL)

Oleander toxicity – the clinical spectrum and mortality predictors: an observational study. ... This is a prospective, observational study conducted at Villupuram Medical College. Consecutive hospitalized patients who had consumed ... The data were analyzed using standard statistical methods. A total of 101 patients (46 male ...

Clinical spectrum of food allergies: a comprehensive review.

Science.gov (United States)

Ho, Marco H-K; Wong, Wilfred H-S; Chang, Christopher

2014-06-01

Food allergy is defined as an adverse immune response towards food proteins or as a form of a food intolerance associated with a hypersensitive immune response. It should also be reproducible by a double-blind placebo-controlled food challenge. Many reported that food reactions are not allergic but are intolerances. Food allergy often presents to clinicians as a symptom complex. This review focuses on the clinical spectrum and manifestations of various forms of food allergies. According to clinical presentations and allergy testing, there are three types of food allergy: IgE mediated, mixed (IgE/Non-IgE), and non-IgE mediated (cellular, delayed type hypersensitivity). Recent advances in food allergy in early childhood have highlighted increasing recognition of a spectrum of delayed-onset non-IgE-mediated manifestation of food allergy. Common presentations of food allergy in infancy including atopic eczema, infantile colic, and gastroesophageal reflux. These clinical observations are frequently associated with food hypersensitivity and respond to dietary elimination. Non-IgE-mediated food allergy includes a wide range of diseases, from atopic dermatitis to food protein-induced enterocolitis and from eosinophilic esophagitis to celiac disease. The most common food allergies in children include milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. Milk and egg allergies are usually outgrown, but peanut and treenut allergy tends to persist. The prevalence of food allergy in infancy is increasing and may affect up to 15-20 % of infants. The alarming rate of increase calls for a public health approach in the prevention and treatment of food allergy in children.

Tourette Syndrome and Chronic Tic Disorders: The Clinical Spectrum Beyond Tics.

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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

Language Acquisition in Autism Spectrum Disorders: A Developmental Review

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Eigsti, Inge-Marie; de Marchena, Ashley B.; Schuh, Jillian M.; Kelley, Elizabeth

2011-01-01

This paper reviews the complex literature on language acquisition in the autism spectrum disorders (ASD). Because of the high degree of interest in ASD in the past decade, the field has been changing rapidly, with progress in both basic science and applied clinical areas. In addition, psycholinguistically-trained researchers have increasingly…

GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM

Directory of Open Access Journals (Sweden)

Arsov Todor

2016-07-01

Full Text Available The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy and movement disorders. The biochemical parameters of this disease, used in diagnosis, are low levels of glucose in the cerebrospinal fluid, normal level of glucose in the blood and consequent low ratio of cerebrospinal fluid vs. blood glucose levels (<40-45%. So far, more than 200 cases of the classical GLUT-1 DS have been described in the literature. Genetic research demonstrated that this disease is caused by mutations in SLC2A1 gene coding for GLUT-1, a transporter of glucose across the blood brain barrier. Over the last few years the clinical spectrum of GLUT-1 deficiencywas expanded to include other rare diseases such as paroxysmal exertional dyskinesia and early-onset absence epilepsy, but also some more common diseases such as idiopathic generalised epilepsy (1-2%. GLUT-1 deficiency is an important pathophysiological basis of these diseases as early diagnosis (aided by DNA mutation testing and treatment (ketogenic diet could lead to improved disease outcomes.

[Process and key points of clinical literature evaluation of post-marketing traditional Chinese medicine].

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Liu, Huan; Xie, Yanming

2011-10-01

The clinical literature evaluation of the post-marketing traditional Chinese medicine is a comprehensive evaluation by the comprehensive gain, analysis of the drug, literature of drug efficacy, safety, economy, based on the literature evidence and is part of the evaluation of evidence-based medicine. The literature evaluation in the post-marketing Chinese medicine clinical evaluation is in the foundation and the key position. Through the literature evaluation, it can fully grasp the information, grasp listed drug variety of traditional Chinese medicines second development orientation, make clear further clinical indications, perfect the medicines, etc. This paper discusses the main steps and emphasis of the clinical literature evaluation. Emphasizing security literature evaluation should attach importance to the security of a comprehensive collection drug information. Safety assessment should notice traditional Chinese medicine validity evaluation in improving syndrome, improveing the living quality of patients with special advantage. The economics literature evaluation should pay attention to reliability, sensitivity and practicability of the conclusion.

Autism Spectrum Disorder in Anorexia Nervosa: An Updated Literature Review.

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Westwood, Heather; Tchanturia, Kate

2017-07-01

There is growing interest in the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). This review aimed to synthesise the most recent research on this topic to identify gaps in current knowledge, directions for future research and reflect on implications for treatment. Eight studies assessing the presence of ASD in AN were identified in the literature along with three studies examining the impact of symptoms of ASD on treatment outcome. Research with young people and using parental-report measures suggest lower rates of co-morbidity than previous adult studies. The wide range of diagnostic tools, methodologies and populations studied make it difficult to determine the prevalence of ASD in AN. Despite this, studies consistently report over-representation of symptoms of ASD in AN. Co-morbid AN and ASD may require more intensive treatment or specifically tailored interventions. Future longitudinal research and female-specific diagnostic tools would help elucidate the relationship between these two disorders.

A CLINICAL STUDY TO ANALYSE THE SPECTRUM OF PERITONITIS DUE TO HOLLOW VISCUS PERFORATION

Directory of Open Access Journals (Sweden)

Sai Datta

2015-07-01

Full Text Available Perforation peritonitis is the one of the common abdominal surgical emergency . The spectrum of etiology of perforation in Tropical countries continues to be different from its Western counterpart. The objective of the study was to highlight the spectrum of perforation peritonitis as encountered at K aturi M edical C ollege and H ospital , G untur. A.P. Hundred consec utive cases of perforation peritonitis over a period of 26 months . (June 2010 - July 2012 were reviewed in terms of clinical presentation, operative findings and postoperative course retrospectively. The most common type of perforation in our series was per forated duodenal ulcer (56 cases followed by Appendicular (16 cases, Ileal (12 cases, Colonic ( 6 cases, Gastric ( 4 cases, Jejunal (2 cases, Gall bladder (2 cases, Anastomotic ulcer ( 2 cases were reported . Despite delay in seeking medical treatment (32%, the overall mortality (11% , favorably comparable with other published series though the overall morbidity (29% was favorable. In contrast to western literature, where lower gastrointestinal tract perforations predominate, upper gastrointestinal tr act perforations constitute the majority of cases in India. Mostly males and elderly people are affected due to injudicious usage of NSAIDS, alcohol, smoking. ( 11 Withdrawal from these habits and using of proton pump inhibitors and H - Pylori eradication which warrant early recognition and prompt treatment to avoid serious complications and death.

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

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Harini Sarva

2016-03-01

Full Text Available Background: “Classic” stiff person syndrome (SPS features stiffness, anti-glutamic acid decarboxylase (anti-GAD antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia in which stiffness is inconsistently present. Patients with otherwise “classic” SPS may either lack anti-GAD antibodies or be seropositive for others. Hence, SPS cases appear to fall within a clinical spectrum that includes conditions such as progressive encephalomyelitis with rigidity and myoclonus (PERM, which exhibits brainstem and autonomic features. We have compiled herein SPS-spectrum cases reported since 2010, and have segregated them on the basis of likely disease mechanism (autoimmune, paraneoplastic, or cryptogenic for analysis. Methods: The phrases “stiff person syndrome”, “PERM”, “anti-GAD antibody syndrome”, and “glycine receptor antibody neurological disorders” were searched for in PubMed in January 2015. The results were narrowed to 72 citations after excluding non-English and duplicate reports. Clinical descriptions, laboratory data, management, and outcomes were categorized, tabulated, and analyzed. Results: Sixty-nine autoimmune, 19 paraneoplastic, and 13 cryptogenic SPS-spectrum cases were identified. SPS was the predominant diagnosis among the groups. Roughly two-thirds of autoimmune and paraneoplastic cases were female. Anti-GAD antibodies were most frequently identified, followed by anti-amphiphysin among paraneoplastic cases and by anti-glycine receptor antibodies among autoimmune cases. Benzodiazepines were the most commonly used medications. Prognosis seemed best for cryptogenic cases; malignancy worsened that of paraneoplastic cases. Discussion: Grouping SPS-spectrum cases by pathophysiology provided insights into work-up, treatment, and prognosis. Ample phenotypic and serologic variations are present within the categories. Ruling out malignancy and autoimmunity is

Clinical and anatomical heterogeneity in autistic spectrum disorder: a structural MRI study.

LENUS (Irish Health Repository)

Toal, F

2010-07-01

Autistic spectrum disorder (ASD) is characterized by stereotyped\\/obsessional behaviours and social and communicative deficits. However, there is significant variability in the clinical phenotype; for example, people with autism exhibit language delay whereas those with Asperger syndrome do not. It remains unclear whether localized differences in brain anatomy are associated with variation in the clinical phenotype.

Prenatal and perinatal risk factors and the clinical implications on autism spectrum disorder.

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Chien, Yi-Ling; Chou, Miao-Chun; Chou, Wen-Jiun; Wu, Yu-Yu; Tsai, Wen-Che; Chiu, Yen-Nan; Gau, Susan Shur-Fen

2018-06-01

Prenatal and perinatal factors may increase the risk of autism spectrum disorder. However, little is known about whether unaffected siblings of probands with autism spectrum disorder also share the phenomenon and whether the prenatal/perinatal factors are related to the clinical severity of autistic symptoms. We compared the frequency of prenatal and perinatal factors among 323 probands with autism spectrum disorder (mean age ± standard deviation, 10.7 ± 3.5 years; males, 91.0%), 257 unaffected siblings (11.7 ± 4.5; 42.8%), and 1504 typically developing controls (8.9 ± 1.6 years; 53.1%); and investigated their effects on the severity of autistic symptoms. We found that probands with autism spectrum disorder and their unaffected siblings had more prenatal/perinatal events than typically developing controls with higher numbers of prenatal/perinatal factors in probands than in unaffected siblings. The prenatal/perinatal events were associated with greater stereotyped behaviors, social-emotional problems, socio-communication deficits, and overall severity. We also found that six prenatal/perinatal factors (i.e. preeclampsia, polyhydramnios, oligoamnios, placenta previa, umbilical cord knot, and gestational diabetes) were associated with the severity of autistic symptoms, particularly stereotyped behaviors and socio-communication deficits. Our findings suggest that prenatal and perinatal factors may potentially moderate the clinical expression of autism spectrum disorder. The underlying mechanism warrants further research.

Decision-Making Difficulties Experienced by Adults with Autism Spectrum Conditions

Science.gov (United States)

Luke, Lydia; Clare, Isabel C. H.; Ring, Howard; Redley, Marcus; Watson, Peter

2012-01-01

Autobiographical and clinical accounts, as well as a limited neuropsychological research literature, suggest that, in some situations, men and women with autism spectrum conditions (ASCs) may have difficulty making decisions. Little is known, however, about how people with ASCs experience decision-making or how they might best be supported to make…

A Review of the Role of Female Gender in Autism Spectrum Disorders

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Kirkovski, Melissa; Enticott, Peter G.; Fitzgerald, Paul B.

2013-01-01

This paper reviews the literature exploring gender differences associated with the clinical presentation of autism spectrum disorders (ASD). The potentially mediating effect of comorbid psychopathology, biological and neurodevelopmental implications on these gender differences is also discussed. A vastly heterogeneous condition, while females on…

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Science.gov (United States)

Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

2017-04-01

Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient

Directory of Open Access Journals (Sweden)

Woodbury-Smith Marc

2008-02-01

Full Text Available Abstract Background Autism Spectrum Conditions (ASCs are characterized by a high degree of clinical heterogeneity, but the extent to which this variation represents a severity gradient versus discrete phenotypes is unclear. This issue has complicated genetic studies seeking to investigate the genetic basis of the high hereditability observed clinically in those with an ASC. The aim of this study was to examine the possible clustering of symptoms associated with ASCs to determine whether the observed distribution of symptom type and severity supported either a severity or a symptom subgroup model to account for the phenotypic variation observed within the ASCs. Methods We investigated the responses of a group of adults with higher functioning ASCs on the fifty clinical features examined in the Autism Spectrum Quotient, a screening questionnaire used in the diagnosis of higher functioning ASCs. In contrast to previous studies we have used this instrument with no a priori assumptions about any underlying factor structure of constituent items. The responses obtained were analyzed using complete linkage hierarchical cluster analysis. For the members of each cluster identified the mean score on each Autism Spectrum Quotient question was calculated. Results Autism Spectrum Quotient responses from a total of 333 individuals between the ages of 16.6 and 78.0 years were entered into the hierarchical cluster analysis. The four cluster solution was the one that generated the largest number of clusters that did not also include very small cluster sizes, defined as a membership comprising 10 individuals or fewer. Examination of these clusters demonstrated that they varied in total Autism Spectrum Quotient but that the profiles across the symptoms comprising the Autism Spectrum Quotient did not differ independently of this severity factor. Conclusion These results are consistent with a unitary spectrum model, suggesting that the clinical heterogeneity observed

Postural Control Impairments in Individuals With Autism Spectrum Disorder: A Critical Review of Current Literature

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Memari, Amir Hossein; Ghanouni, Parisa; Shayestehfar, Monir; Ghaheri, Banafsheh

2014-01-01

Context: Motor impairments in individuals with autism spectrum disorder (ASD) have been frequently reported. In this review, we narrow our focus on postural control impairments to summarize current literature for patterns, underlying mechanisms, and determinants of posture in this population. Evidence Acquisition: A literature search was conducted through Medline, ISI web of Knowledge, Scopus and Google Scholar to include studies between 1992 and February 2013. Results: Individuals with ASD have problems in maintaining postural control in infancy that well persists into later years. However, the patterns and underlying mechanisms are still unclear. Conclusions: Examining postural control as an endophenotype or early diagnostic marker of autism is a conceptual premise which should be considered in future investigations. At the end of the review, methodological recommendations on the assessment of postural control have also been provided. PMID:25520765

The full spectrum of ethical issues in the care of patients with ALS: a systematic qualitative review.

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Seitzer, F; Kahrass, H; Neitzke, G; Strech, D

2016-02-01

Dealing systematically with ethical issues in amyotrophic lateral sclerosis (ALS) care requires an unbiased awareness of all the relevant ethical issues. The aim of the study was to determine systematically and transparently the full spectrum of ethical issues in ALS care. We conducted a systematic review in Medline and Google Books (restricted to English and German literature published between 1993 and 2014). We applied qualitative text analysis and normative analysis to categorise the spectrum of ethical issues in ALS care. The literature review retrieved 56 references that together mentioned a spectrum of 103 ethical issues in ALS care. The spectrum was structured into six major categories that consist of first and second-order categories of ethical issues. The systematically derived spectrum of ethical issues in ALS care presented in this paper raises awareness and understanding of the complexity of ethical issues in ALS care. It also offers a basis for the systematic development of informational and training materials for health professionals, patients and their relatives, and society as a whole. Finally, it supports a rational and fair selection of all those ethical issues that should be addressed in health policies, position papers and clinical practice guidelines. Further research is needed to identify ways to systematically select the most relevant ethical issues not only in the clinical environment, but also for the development of clinical practice guidelines.

Evaluating clinical ethics support in mental healthcare: a systematic literature review.

NARCIS (Netherlands)

Hem, M.H.; Pedersen, R.; Norvoll, R.; Molewijk, A.C.

2015-01-01

A systematic literature review on evaluation of clinical ethics support services in mental healthcare is presented and discussed. The focus was on (a) forms of clinical ethics support services, (b) evaluation of clinical ethics support services, (c) contexts and participants and (d) results. Five

Clinical spectrum of anorexia nervosa in children.

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Atkins, D M; Silber, T J

1993-08-01

A retrospective review of 21 patients ages 12 years and younger (age of onset range 7 to 12 years) with anorexia nervosa showed diagnostic delay in the youngest ones, high incidence of family psychiatric history, a remarkable severity of illness, and positive response to intensive treatment. Additional findings included significant comorbidity, a distinct subgroup with personality disorder and another with features of the "vulnerable child syndrome." This broad clinical spectrum of anorexia nervosa in children may explain the great variability in outcome. The development of anorexia nervosa in children relates to a complex combination of etiological and trigger factors. Precipitants identified in this study were physical maturation, entry into junior high, loss, or some combination thereof.

Examining the Clinical Correlates of Autism Spectrum Disorder in Youth by Ascertainment Source

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Joshi, Gagan; Faraone, Stephen V.; Wozniak, Janet; Petty, Carter; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L.; McDermott, Katie; Epstien, Cecily; Walker, Rosemary; Caron, Ashley; Feinberg, Leah; Biederman, Joseph

2014-01-01

To examine whether presentation of autism spectrum disorder (ASD) and associated patterns of psychiatric comorbidity and dysfunction vary by referral source. ASD youth referred to a specialized ambulatory program for ASD (N = 143) were compared to ASD youth referred to a general child psychiatry clinic (N = 217). More ASD clinic youth met criteria…

Vitamin D and Autism Spectrum Disorder: A Literature Review

Directory of Open Access Journals (Sweden)

Hajar Mazahery

2016-04-01

Full Text Available Low vitamin D status in early development has been hypothesised as an environmental risk factor for Autism Spectrum Disorder (ASD, given the concurrent increase in the prevalence of these two conditions, and the association of vitamin D with many ASD-associated medical conditions. Identification of vitamin D-ASD factors may provide indications for primary and secondary prevention interventions. We systematically reviewed the literature for studies on vitamin D-ASD relationship, including potential mechanistic pathways. We identified seven specific areas, including: latitude, season of conception/birth, maternal migration/ethnicity, vitamin D status of mothers and ASD patients, and vitamin D intervention to prevent and treat ASD. Due to differences in the methodological procedures and inconsistent results, drawing conclusions from the first three areas is difficult. Using a more direct measure of vitamin D status—that is, serum 25(OHD level during pregnancy or childhood—we found growing evidence for a relationship between vitamin D and ASD. These findings are supported by convincing evidence from experimental studies investigating the mechanistic pathways. However, with few primary and secondary prevention intervention trials, this relationship cannot be determined, unless randomised placebo-controlled trials of vitamin D as a preventive or disease-modifying measure in ASD patients are available.

Vitamin D and Autism Spectrum Disorder: A Literature Review

Science.gov (United States)

Mazahery, Hajar; Camargo, Carlos A.; Conlon, Cathryn; Beck, Kathryn L.; Kruger, Marlena C.; von Hurst, Pamela R.

2016-01-01

Low vitamin D status in early development has been hypothesised as an environmental risk factor for Autism Spectrum Disorder (ASD), given the concurrent increase in the prevalence of these two conditions, and the association of vitamin D with many ASD-associated medical conditions. Identification of vitamin D-ASD factors may provide indications for primary and secondary prevention interventions. We systematically reviewed the literature for studies on vitamin D-ASD relationship, including potential mechanistic pathways. We identified seven specific areas, including: latitude, season of conception/birth, maternal migration/ethnicity, vitamin D status of mothers and ASD patients, and vitamin D intervention to prevent and treat ASD. Due to differences in the methodological procedures and inconsistent results, drawing conclusions from the first three areas is difficult. Using a more direct measure of vitamin D status—that is, serum 25(OH)D level during pregnancy or childhood—we found growing evidence for a relationship between vitamin D and ASD. These findings are supported by convincing evidence from experimental studies investigating the mechanistic pathways. However, with few primary and secondary prevention intervention trials, this relationship cannot be determined, unless randomised placebo-controlled trials of vitamin D as a preventive or disease-modifying measure in ASD patients are available. PMID:27110819

Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis

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Hirota, Tomoya; Veenstra-VanderWeele, Jeremy; Hollander, Eric; Kishi, Taro

2014-01-01

Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine,…

Conceptualizations of clinical leadership: a review of the literature

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Mianda, Solange; Voce, Anna S

2017-01-01

Introduction Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature. Design Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost). Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid®) and electronic journals (Contemporary Nurse, Journal of Research in Nursing, Australian Journal of Nursing and Midwifery, International Journal of Clinical Leadership) were also searched. Results Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider, regardless of the position in the health care system. Conclusion Conceptualizations of clinical leadership among frontline health care providers arise mainly from high-income settings. Understanding the

Conceptualizations of clinical leadership: a review of the literature.

Science.gov (United States)

Mianda, Solange; Voce, Anna S

2017-01-01

Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature. Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost). Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid ® ) and electronic journals ( Contemporary Nurse , Journal of Research in Nursing , Australian Journal of Nursing and Midwifery , International Journal of Clinical Leadership ) were also searched. Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider, regardless of the position in the health care system. Conceptualizations of clinical leadership among frontline health care providers arise mainly from high-income settings. Understanding the influence of context on

Competencies to enable learning-focused clinical supervision: a thematic analysis of the literature.

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Pront, Leeanne; Gillham, David; Schuwirth, Lambert W T

2016-04-01

Clinical supervision is essential for development of health professional students and widely recognised as a significant factor influencing student learning. Although considered important, delivery is often founded on personal experience or a series of predetermined steps that offer standardised behavioural approaches. Such a view may limit the capacity to promote individualised student learning in complex clinical environments. The objective of this review was to develop a comprehensive understanding of what is considered 'good' clinical supervision, within health student education. The literature provides many perspectives, so collation and interpretation were needed to aid development and understanding for all clinicians required to perform clinical supervision within their daily practice. A comprehensive thematic literature review was carried out, which included a variety of health disciplines and geographical environments. Literature addressing 'good' clinical supervision consists primarily of descriptive qualitative research comprising mostly small studies that repeated descriptions of student and supervisor opinions of 'good' supervision. Synthesis and thematic analysis of the literature resulted in four 'competency' domains perceived to inform delivery of learning-focused or 'good' clinical supervision. Domains understood to promote student learning are co-dependent and include 'to partner', 'to nurture', 'to engage' and 'to facilitate meaning'. Clinical supervision is a complex phenomenon and establishing a comprehensive understanding across health disciplines can influence the future health workforce. The learning-focused clinical supervision domains presented here provide an alternative perspective of clinical supervision of health students. This paper is the first step in establishing a more comprehensive understanding of learning-focused clinical supervision, which may lead to development of competencies for clinical supervision. © 2016 John Wiley

[Teaching methods for clinical settings: a literature review].

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Brugnolli, Anna; Benaglio, Carla

2017-01-01

. Teaching Methods for clinical settings: a review. The teaching process during internship requires several methods to promote the acquisition of more complex technical skills such as relational, decisional and planning abilities. To describe effective teaching methods to promote the learning of relational, decisional and planning skills. A literature review of the teaching methods that have proven most effective, most appreciated by students, and most frequently used in Italian nursing schools. Clinical teaching is a central element to transform clinical experiences during internship in professional competences. The students are gradually brought to become more independent, because they are offered opportunities to practice in real contexts, to receive feedback, to have positive role models, to become more autonomous: all elements that facilitate and potentiate learning. Clinical teaching should be based on a variety of methods. The students value a gradual progression both in clinical experiences and teaching strategies from more supervised methods to methods more oriented towards reflecting on clinical practice and self-directed learning.

Peer Assisted Learning in Clinical Education: Literature Review

Science.gov (United States)

Henning, Jolene M.; Weidner, Thomas G.; Marty, Melissa C.

2008-01-01

Objective: To examine the occurrence, benefits, and preferences for peer assisted learning (PAL) in medical and allied health clinical education, and to identify areas in athletic training which need further research. Data Sources: Using relevant terms, five databases were searched for the period 1980-2006 regarding literature on the use of PAL in…

Demographic and Clinical Correlates of Autism Symptom Domains and Autism Spectrum Diagnosis

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Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

2014-01-01

Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive…

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

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Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

2016-01-01

We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

[Titanium or steel as osteosynthesis material : Systematic literature search for clinical evidence].

Science.gov (United States)

Joeris, Alexander; Goldhahn, Sabine; Rometsch, Elke; Höntzsch, Dankward

2017-02-01

The selection of the appropriate implant material, stainless steel or titanium, is still the decision of the surgeon and/or the affiliated institution. Additionally, remarkable international differences can be found between the different markets, which cannot really be explained. A systematic literature search was performed to verify whether there is clinical evidence for the preference of one material over the other. The systematic literature search was performed utilizing the internet databases PubMed, Cochrane and Web of Science. Comparative studies were included that reported on adult patients with osteosynthesis of extremities after trauma using either stainless steel or titanium implants. Information was extracted about infection rates, incidence of clinically relevant allergies, problems with implant removal and other complications. A total of 18 publications were identified to be eligible and 2 referenced articles were added. In summary, there is insufficient clinical evidence that the use of titanium or steel implants has a positive or negative effect on fracture healing, shows different rates of allergies, different rates of infections or mechanical failure. No supporting evidence could be identified for the difficulties with removal of titanium implants reported by surgeons. This systematic literature search did not provide any clinical evidence for material-related differences between titanium or stainless steel implants for fracture fixation. Based on the current clinical evidence both titanium and steel implants can be considered to be of equal value. The reported difficulties with implant removal are not reflected in the published literature.

Do Social Stories Help to Decrease Disruptive Behaviour in Children with Autistic Spectrum Disorders? A Review of the Published Literature

Science.gov (United States)

Rhodes, Christine

2014-01-01

A structured search and identification of themes within the literature regarding the use of Social Stories to decrease disruptive behaviour in children with autistic spectrum disorders is presented. The examination of seven studies showed that the Social Story intervention was successful for the majority of the participants, although the level of…

Clinical Spectrum, Management and Outcome of Neonatal Candidiasis

International Nuclear Information System (INIS)

Khan, E. A.; Choudhry, S.; Fatima, M.; Batool, Z.

2015-01-01

Objective: To identify clinical spectrum, management and outcome of neonatal candidiasis. Methods: The retrospective study was conducted at the Shifa International Hospital, Islamabad, Pakistan, and comprised microbiological records of all the babies admitted to the Neonatal Intensive Care Unit from January 2009 to January 2014 that were reviewed to identify those with positive candida cultures. Medical records were analysed for demographic and clinical spectrum features, management and outcome. SPSS 16 was used statistical analysis. Results: Of the total 1550 neonatal admissions, 560 (36 percent) had positive cultures, and, of them, candida was isolated in 49(8.8 percent) neonates. Among them, 13(26 percent) had candida albicans and the rest had candida species. Majority were males 34(70 percent), and preterm with 30(61 percent) being <37 weeks. The mean birth weight was 2000±873 grams. Mean age at admission was 6±7.6 days. Overall, 39(80 percent) had >2 risk factors. The commonest site of isolation was blood in 41(84 percent). Besides, 32 (65 percent) received fluconazole alone for treatment. Mean duration of anti-fungal therapy was 10±5 days (range: 1-21 days). Twelve (24 percent) neonates expired and the cause of death was candida sepsis in 10(20 percent) cases. Mortality was not significantly associated with gender, place of birth, gestation, risk factors, length of stay, prior antibiotic exposure or receipt of antifungal prophylaxis except those who were <1500 grams (p<0.05). Conclusion: Approximately one in ten at-risk neonates may develop candida sepsis with high mortality. Early institution of anti-fungal therapy may prove to be life-saving. (author)

Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals.

Science.gov (United States)

Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

2015-01-01

Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: "confidentiality and information", "interpersonal, relational and behavioral issues", "psychological strain of individuals", and "scarce resources"; B) meso level: "structural issues of medical institutions", "issues with private clinics", "challenges connected to the family", and "issues of education, training and competence"; and C) macro level: "influence of society, culture, religion and superstition", "applicability of western medicine", "structural issues on the political level", and "legal issues". Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into perspective. As many participants reported a lack of awareness of ethical issues amongst other health

Conceptualizations of clinical leadership: a review of the literature

Directory of Open Access Journals (Sweden)

Mianda S

2017-10-01

Full Text Available Solange Mianda, Anna S Voce Department of Public Health Medicine, School of Nursing and Public Health, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa Introduction: Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature.Design: Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost. Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid® and electronic journals (Contemporary Nurse, Journal of Research in Nursing, Australian Journal of Nursing and Midwifery, International Journal of Clinical Leadership were also searched.Results: Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider

Instructional scaffolding to improve students' skills in evaluating clinical literature.

Science.gov (United States)

Dawn, Stefani; Dominguez, Karen D; Troutman, William G; Bond, Rucha; Cone, Catherine

2011-05-10

To implement and assess the effectiveness of an activity to teach pharmacy students to critically evaluate clinical literature using instructional scaffolding and a Clinical Trial Evaluation Rubric. The literature evaluation activity centered on a single clinical research article and involved individual, small group, and large group instruction, with carefully structured, evidence-based scaffolds and support materials centered around 3 educational themes: (1) the reader's awareness of text organization, (2) contextual/background information and vocabulary, and (3) questioning, prompting, and self-monitoring (metacognition). Students initially read the article, scored it using the rubric, and wrote an evaluation. Students then worked individually using a worksheet to identify and define 4 to 5 vocabulary/concept knowledge gaps. They then worked in small groups and as a class to further improve their skills. Finally, they assessed the same article using the rubric and writing a second evaluation. Students' rubric scores for the article decreased significantly from a mean pre-activity score of 76.7% to a post-activity score of 61.7%, indicating that their skills in identifying weaknesses in the article's study design had improved. Use of instructional scaffolding in the form of vocabulary supports and the Clinical Trial Evaluation Rubric improved students' ability to critically evaluate a clinical study compared to lecture-based coursework alone.

Re-thinking clinical assessment: What can we learn from the medical literature?

International Nuclear Information System (INIS)

Yielder, Jill; Thompson, Andrea; De Bueger, Tracy

2012-01-01

This article explores the literature available in the field of medical education on the topic of clinical assessment, in order to suggest different ways of assessing clinical experience that may not have been considered within undergraduate radiography programmes. The medical literature is contrasted with the clinical assessment currently being used in a medical imaging programme in New Zealand, with the aim of offering suggestions that may benefit the assessment of the clinical and professional elements of radiography programmes more generally. The authors conclude that ideally students need to be assessed in the clinical domain by multiple assessors, with varied assessment methods used repeatedly over a period of time and with the provision of frequent and constructive feedback. Various methods of clinical assessment are suggested and it is emphasised that the methods selected need to be valid, reliable and psychometrically supported. This encourages an evidence-based practice approach that is supportive of on-going programme development and change.

Gaze palsy, hypogeusia and a probable association with miscarriage of pregnancy--the expanding clinical spectrum of non-opticospinal neuromyelitis optica spectrum disorders: a case report.

Science.gov (United States)

Chang, Thashi; Withana, Milinda

2015-02-10

Neuromyelitis optica is characterised by optic neuritis, longitudinally-extensive transverse myelitis and presence of anti-aquaporin-4 antibodies in the serum. However, non-opticospinal central nervous system manifestations have been increasingly recognised. Awareness of the widening clinical spectrum of neuromyelitis optica (unified within the nosology of 'neuromyelitis optica spectrum disorders') is key to earlier diagnosis and appropriate therapy. We report 2 patients to illustrate the varied clinical manifestations of neuromyelitis optica spectrum disorders while postulating an effect of anti-aquaporin-4 antibodies on the miscarriage of pregnancy. This is the first report of horizontal gaze palsy as a presenting symptom of neuromyelitis optica spectrum disorders. Patient 1: A 17-year-old Sri Lankan female presented with hypersomnolence, lateral gaze palsy and loss of taste of 1 week duration. Two years previously she had presented with intractable hiccups and vomiting followed by a brainstem syndrome. Magnetic resonance imaging showed a lesion in the left cerebellum extending into the pons while lesions in bilateral hypothalami and medulla noted 2 years ago had resolved. Autoimmune, vasculitis and infection screens were negative. Anti-aquaporin-4 antibodies were detected in serum. All her symptoms resolved with immunosuppressive therapy. Patient 2: A 47-Year-old Sri Lankan female presented with persistent vomiting lasting over 3 weeks. Three years previously, at 25-weeks of her 4(th) pregnancy, she had presented with quadriparesis and was found to have a longitudinally extensive transverse myelitis from C2 to T2 vertebral levels, which gradually improved following intravenous steroid therapy. Magnetic resonance imaging showed a hyper-intense lesion in the area postrema and longitudinally extensive atrophy of the cord corresponding to her previous myelitis. Autoimmune, vasculitis and infection screens were negative. Anti-aquaporin-4 antibodies were detected in

Beyond PubMed: Searching the "Grey Literature" for Clinical Trial Results.

Science.gov (United States)

Citrome, Leslie

2014-07-01

Clinical trial results have been traditionally communicated through the publication of scholarly reports and reviews in biomedical journals. However, this dissemination of information can be delayed or incomplete, making it difficult to appraise new treatments, or in the case of missing data, evaluate older interventions. Going beyond the routine search of PubMed, it is possible to discover additional information in the "grey literature." Examples of the grey literature include clinical trial registries, patent databases, company and industrywide repositories, regulatory agency digital archives, abstracts of paper and poster presentations on meeting/congress websites, industry investor reports and press releases, and institutional and personal websites.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

DEFF Research Database (Denmark)

Taylor, Jenny C; Martin, Hilary C; Lise, Stefano

2015-01-01

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the numb...

Clinical relevance of metronidazole and peripheral neuropathy: a systematic review of the literature.

Science.gov (United States)

Goolsby, Tiffany A; Jakeman, Bernadette; Gaynes, Robert P

2018-03-01

The objective of this paper was to review and evaluate the literature on metronidazole-associated peripheral neuropathy and determine the relevance in clinical practice. MEDLINE/PubMed, EBSCO, and Google Scholar were searched through February 2017 using the search terms metronidazole and peripheral neuropathy, or polyneuropathy, or paresthesia, or neurotoxicity. Relevant case reports, retrospective studies, surveys, and review articles were included. Bibliographies of all relevant articles were reviewed for additional sources. Overall, metronidazole is generally well tolerated, but serious neurotoxicity, including peripheral neuropathy, has been reported. The overall incidence of peripheral neuropathy associated with metronidazole is unknown. Our review found 36 case reports (40 unique patients) of metronidazole-associated peripheral neuropathy, with most cases (31/40) receiving a >42 g total (>4 weeks) of therapy. In addition, we reviewed 13 clinical studies and found varying rates of peripheral neuropathy from 0 to 50%. Within these clinical studies, we found a higher incidence of peripheral neuropathy in patients receiving >42 g total (>4 weeks) of metronidazole compared with those patients receiving ≤42 g total (17.9% vs. 1.7%). Nearly all patients had complete resolution of symptoms. In conclusion, peripheral neuropathy is rare in patients who receive ≤42 g total of metronidazole. Patients who receive higher total doses may be at higher risk of peripheral neuropathy, but symptoms resolve after discontinuation of therapy in most patients. Antimicrobial stewardship programs may consider use of antibiotic combinations that include metronidazole over broad-spectrum alternatives when treating with ≤42 g total of the drug (≤4 weeks). Published by Elsevier B.V.

Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases

Directory of Open Access Journals (Sweden)

Soomin Ahn

2016-09-01

Full Text Available Pulmonary arteriovenous fistula (PAVF is abnormally dilated vessels that provide a right-to-left shunt between pulmonary artery and pulmonary vein and is clinically divided into simple and complex type. Here, we report four cases of surgically resected sporadic PAVFs presenting various clinical and histologic spectrums. Cases 1 (a 57-old-female and 2 (a 54-old-female presented as incidentally identified single aneurysmal fistulas and the lesions were surgically removed without complication. On the other hand, case 3 (an 11-old-male showed diffuse dilated vascular sacs involving both lungs and caused severe hemodynamic and pulmonary dysfunction. Embolization and surgical resection of the main lesion failed to relieve the symptoms. Case 4 (a 36-old-male had a localized multiloculated cyst clinically mimicking congenital cystic adenomatoid malformation. Microscopically, the lesion consisted of dilated thick vessels, consistent with the diagnosis of fistulous arteriovenous malformation/hemangioma.

Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals

Science.gov (United States)

Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

2015-01-01

Introduction Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. Materials and Methods In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Results Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: “confidentiality and information”, “interpersonal, relational and behavioral issues”, “psychological strain of individuals”, and “scarce resources”; B) meso level: “structural issues of medical institutions”, “issues with private clinics”, “challenges connected to the family”, and “issues of education, training and competence”; and C) macro level: “influence of society, culture, religion and superstition”, “applicability of western medicine”, “structural issues on the political level”, and “legal issues”. Discussion Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into

A Prospective Study on the Clinical and Microbiological Spectrum of Endophthalmitis in a Specific Region in Denmark

DEFF Research Database (Denmark)

Solborg Bjerrum, Søren; Hamoudi, Hassan; Friis-Møller, Alice

2016-01-01

PURPOSE: To study the clinical and microbiological spectrum of endophthalmitis with emphasis on clinical features, visual outcomes and risks of surgical complications. METHODS: A prospective observational study was conducted between 2012 and 2013 in a specific region in Denmark. Patients were...... clinically examined before, during and after surgical intervention for endophthalmitis. RESULTS: Fifty eyes with endophthalmitis were included. Endophthalmitis after cataract surgery (post-cataract), anti-VEGF (vascular endothelial growth factor) intravitreal injections (post-injection) and cases...... of endogenous endophthalmitis were responsible for 40, 28 and 18% of all cases, respectively. There was no difference in the microbiological spectrum in post-cataract patients and post-injection patients, but patients with post-cataract endophthalmitis presented statistically significantly more frequently...

Pain clinic definitions in the medical literature and U.S. state laws: an integrative systematic review and comparison.

Science.gov (United States)

Andraka-Christou, Barbara; Rager, Joshua B; Brown-Podgorski, Brittany; Silverman, Ross D; Watson, Dennis P

2018-05-22

In response to widespread opioid misuse, ten U.S. states have implemented regulations for facilities that primarily manage and treat chronic pain, called "pain clinics." Whether a clinic falls into a state's pain clinic definition determines the extent to which it is subject to oversight. It is unclear whether state pain clinic definitions model those found in the medical literature, and potential differences lead to discrepancies between scientific and professionally guided advice found in the medical literature and actual pain clinic practice. Identifying discrepancies could assist states to design laws that are more compatible with best practices suggested in the medical literature. We conducted an integrative systematic review to create a taxonomy of pain clinic definitions using academic medical literature. We then identified existing U.S. state pain clinic statutes and regulations and compared the developed taxonomy using a content analysis approach to understand the extent to which medical literature definitions are reflected in state policy. In the medical literature, we identified eight categories of pain clinic definitions: 1) patient case mix; 2) single-modality treatment; 3) multidisciplinary treatment; 4) interdisciplinary treatment; 5) provider supervision; 6) provider composition; 7) marketing; and 8) outcome. We identified ten states with pain clinic laws. State laws primarily include the following definitional categories: patient case mix; single-modality treatment, and marketing. Some definitional categories commonly found in the medical literature, such as multidisciplinary treatment and interdisciplinary treatment, rarely appear in state law definitions. This is the first study to our knowledge to develop a taxonomy of pain clinic definitions and to identify differences between pain clinic definitions in U.S. state law and medical literature. Future work should explore the impact of different legal pain clinic definitions on provider decision

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

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Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

2010-01-01

Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

Clinical spectrum of rhabdomyolysis presented to pediatric emergency department

Science.gov (United States)

2013-01-01

Background Rhabdomyolysis is a potentially life-threatening syndrome that can develop from a variety of causes. The aim of the work is to analyze the clinical spectrum and to evaluate the prevalence of various etiologies in children, who present to the emergency department (ED) with rhabdomyolysis. Methods During a 6-year study period, we retrospectively analyzed the medical charts of patients, aged 18 years or younger, with a definite diagnosis of rhabdomyolysis and serum creatinine phosphokinase (CK) levels greater than 1000IU/L. We analyzed the clinical spectrum and evaluated the potential risk factors of acute renal failure (ARF). Results Thirty-seven patients (mean age = 10.2 ± 5.5 years), including 26 males and 11 females, were enrolled in the study. Two of the most common presented symptoms in these 37 patients were muscle pain and muscle weakness (83.8% and 73%, respectively). Dark urine was reported in only 5.4% of the patients. The leading cause of rhabdomyolysis in the 0- to 9-year age group was presumed infection, and the leading cause in the 10- to 18-year age group was trauma and exercise. The incidence of ARF associated with rhabdomyolysis was 8.1 % and no child needed for renal replacement therapy (RRT). We did not identify any reliable predictors of ARF or need for RRT. Conclusions The classic triad of symptoms of rhabdomyolysis includes myalgia, weakness and dark urine are not always presented in children. The cause of rhabdomyolysis in younger age is different from that of teenager group. However, the prognosis of rhabdomyolysis was good with appropriate management. PMID:24004920

Increased Clinical and Neurocognitive Impairment in Children with Autism Spectrum Disorders and Comorbid Bipolar Disorder

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Weissman, Adam S.; Bates, Marsha E.

2010-01-01

Bipolar (BD) symptomatology is prevalent in children with autism spectrum disorders (ASD) and may lead to increased impairment. The current study compared clinical and neurocognitive impairment in children (7-13 years) diagnosed with ASD (n=55), BD (n=34), ASD + BD (n=23), and a non-clinical control group (n=27). Relative to the ASD group, the ASD…

Gender dysphoria and autism spectrum disorder: A narrative review.

Science.gov (United States)

Van Der Miesen, Anna I R; Hurley, Hannah; De Vries, Annelou L C

2016-01-01

The current literature shows growing evidence of a link between gender dysphoria (GD) and autism spectrum disorder (ASD). This study reviews the available clinical and empirical data. A systematic search of the literature was conducted using the following databases: PubMed, Web of Science, PsycINFO and Scopus; utilizing different combinations of the following search terms: autism, autism spectrum disorder (ASD), Asperger's disorder (AD), co-morbidity, gender dysphoria (GD), gender identity disorder (GID), transgenderism and transsexualism. In total, 25 articles and reports were selected and discussed. Information was grouped by found co-occurrence rates, underlying hypotheses and implications for diagnosis and treatment. GD and ASD were found to co-occur frequently - sometimes characterized by atypical presentation of GD, which makes a correct diagnosis and determination of treatment options for GD difficult. Despite these challenges there are several case reports describing gender affirming treatment of co-occurring GD in adolescents and adults with ASD. Various underlying hypotheses for the link between GD and ASD were suggested, but almost all of them lack evidence.

Effects of the Picture Exchange Communication System (PECS) on Maladaptive Behavior in Children with Autism Spectrum Disorders (ASD): A Review of the Literature

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Battaglia, Dana; McDonald, Mary E.

2015-01-01

This paper provides an overview of the literature investigating the functional relationship between the use of the Picture Exchange Communication System (PECS) and maladaptive behavior (i.e., aggression, tantrums) in individuals with autism spectrum disorders (ASD). Digital searches were conducted to identify single subject design studies…

Data-driven analysis of biomedical literature suggests broad-spectrum benefits of culinary herbs and spices

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Mukherjee, Jagriti

2018-01-01

Spices and herbs are key dietary ingredients used across cultures worldwide. Beyond their use as flavoring and coloring agents, the popularity of these aromatic plant products in culinary preparations has been attributed to their antimicrobial properties. Last few decades have witnessed an exponential growth of biomedical literature investigating the impact of spices and herbs on health, presenting an opportunity to mine for patterns from empirical evidence. Systematic investigation of empirical evidence to enumerate the health consequences of culinary herbs and spices can provide valuable insights into their therapeutic utility. We implemented a text mining protocol to assess the health impact of spices by assimilating, both, their positive and negative effects. We conclude that spices show broad-spectrum benevolence across a range of disease categories in contrast to negative effects that are comparatively narrow-spectrum. We also implement a strategy for disease-specific culinary recommendations of spices based on their therapeutic tradeoff against adverse effects. Further by integrating spice-phytochemical-disease associations, we identify bioactive spice phytochemicals potentially involved in their therapeutic effects. Our study provides a systems perspective on health effects of culinary spices and herbs with applications for dietary recommendations as well as identification of phytochemicals potentially involved in underlying molecular mechanisms. PMID:29813110

Data-driven analysis of biomedical literature suggests broad-spectrum benefits of culinary herbs and spices.

Science.gov (United States)

Rakhi, N K; Tuwani, Rudraksh; Mukherjee, Jagriti; Bagler, Ganesh

2018-01-01

Spices and herbs are key dietary ingredients used across cultures worldwide. Beyond their use as flavoring and coloring agents, the popularity of these aromatic plant products in culinary preparations has been attributed to their antimicrobial properties. Last few decades have witnessed an exponential growth of biomedical literature investigating the impact of spices and herbs on health, presenting an opportunity to mine for patterns from empirical evidence. Systematic investigation of empirical evidence to enumerate the health consequences of culinary herbs and spices can provide valuable insights into their therapeutic utility. We implemented a text mining protocol to assess the health impact of spices by assimilating, both, their positive and negative effects. We conclude that spices show broad-spectrum benevolence across a range of disease categories in contrast to negative effects that are comparatively narrow-spectrum. We also implement a strategy for disease-specific culinary recommendations of spices based on their therapeutic tradeoff against adverse effects. Further by integrating spice-phytochemical-disease associations, we identify bioactive spice phytochemicals potentially involved in their therapeutic effects. Our study provides a systems perspective on health effects of culinary spices and herbs with applications for dietary recommendations as well as identification of phytochemicals potentially involved in underlying molecular mechanisms.

Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis

OpenAIRE

Frazier, Thomas W; Youngstrom, Eric A; Embacher, Rebecca; Hardan, Antonio Y; Constantino, John N; Law, Paul; Findling, Robert L; Eng, Charis

2013-01-01

Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the So...

How to write a surgical clinical research protocol: literature review and practical guide.

Science.gov (United States)

Rosenthal, Rachel; Schäfer, Juliane; Briel, Matthias; Bucher, Heiner C; Oertli, Daniel; Dell-Kuster, Salome

2014-02-01

The study protocol is the core document of every clinical research project. Clinical research in studies involving surgical interventions presents some specific challenges, which need to be accounted for and described in the study protocol. The aim of this review is to provide a practical guide for developing a clinical study protocol for surgical interventions with a focus on methodologic issues. On the basis of an in-depth literature search of methodologic literature and on some cardinal published surgical trials and observational studies, the authors provides a 10-step guide for developing a clinical study protocol in surgery. This practical guide outlines key methodologic issues important when planning an ethically and scientifically sound research project involving surgical interventions, with the ultimate goal of providing high-level evidence relevant for health care decision making in surgery. Copyright © 2014 Elsevier Inc. All rights reserved.

Gender identity and autism spectrum disorders.

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van Schalkwyk, Gerrit I; Klingensmith, Katherine; Volkmar, Fred R

2015-03-01

In this review, we briefly summarize much of the existing literature on gender-related concerns and autism spectrum disorders (ASD), drawing attention to critical shortcomings in our current understanding and potential clinical implications. Some authors have concluded that gender identity disorder (GID), or gender dysphoria (GD), is more common in individuals with ASD, providing a range of potential explanations. However, existing literature is quantitatively limited, and our capacity to draw conclusions is further complicated by conceptual challenges regarding how gender identity is best understood. Discourses that emphasize gender as a component of identity formation are gaining prominence and seem particularly salient when applied to ASD. Individuals with ASD should enjoy equal rights with regard to treatment for gender dysphoria. Clinicians may be able to assist individuals in understanding this aspect of their identity by broadening the social frame and facilitating an exploration of gender roles.

[Molecular Biology on the Mechanisms of Autism Spectrum Disorder for Clinical Psychiatrists].

Science.gov (United States)

Makinodan, Manabu

2015-01-01

While, in general, a certain number of clinical psychiatrists might not be familiar with molecular biology, the mechanisms of mental illnesses have been uncovered by molecular biology for decades. Among mental illnesses, even biological psychiatrists and neuroscientists have paid less attention to the biological treatment of autism spectrum disorder (ASD) than Alzheimer's disease and schizophrenia since ASD has been regarded as a developmental disorder that was seemingly untreatable. However, multifaceted methods of molecular biology have revealed the mechanisms that would lead to the medication of ASD. In this article, how molecular biology dissects the pathobiology of ASD is described in order to announce the possibilities of biological treatment for clinical psychiatrists.

Clinical Spectrum of Medium-Sized Vessel Vasculitis.

Science.gov (United States)

Alibaz-Oner, Fatma; Koster, Matthew J; Crowson, Cynthia S; Makol, Ashima; Ytterberg, Steven R; Salvarani, Carlo; Matteson, Eric L; Warrington, Kenneth J

2017-06-01

Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of medium-sized visceral vessels. However, cutaneous arteritis (CA) and gastrointestinal (GI) vasculitis are forms of single-organ vasculitis having indistinguishable histopathologic findings from PAN. The aim of this study was to evaluate and compare the clinical characteristics, treatment, and outcomes of patients with systemic PAN, CA, and GI vasculitis. Retrospective cohorts were assembled, consisting of patients with PAN, CA, and GI vasculitis between 1980 and 2014. The demographics, clinical characteristics, treatment, and outcomes of patients were abstracted from medical records. We included 48 patients with PAN, 41 patients with CA, and 19 patients with GI vasculitis. The disease of 1 patient evolved from CA to systemic PAN during the disease course. At diagnosis, 94% of patients with PAN, 93% of patients with CA, and 67% of patients with GI vasculitis were treated with glucocorticoids. Additional immunosuppressive agents were used in 67% of PAN, 37% of GI vasculitis, and 32% of CA cases. The 5-year cumulative relapse rate was 45.2% in CA, and only 9.6% in PAN during a followup of approximately 6 years. No deaths were observed in the CA group. The survival rate at 10 years was 66% in the PAN group and 61% in the GI vasculitis group. Systemic PAN, CA, and GI vasculitis take different clinical courses and therefore may be different diseases, rather than existing on a spectrum of the same disease. Progression of CA to systemic PAN is very rare. Relapse risk is low during followup in PAN. Patients with CA have a higher relapse rate than those with systemic PAN, possibly due to less use of immunosuppressive therapy in CA. © 2016, American College of Rheumatology.

The mental health of individuals referred for assessment of autism spectrum disorder in adulthood: A clinic report.

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Russell, Ailsa J; Murphy, Clodagh M; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M; Craig, Michael C; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M; Spain, Deborah; Murphy, Declan Gm

2016-07-01

Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis. © The Author(s) 2015.

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Directory of Open Access Journals (Sweden)

Hiren Patt

2017-11-01

Full Text Available Objective: To study genotype–phenotype spectrum of triple A syndrome (TAS. Methods: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8 and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications. Results: Median age at presentation was 4.75 years (range: 4–10 and 5 years (range: 1–42 for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI, achalasia and neurological dysfunction (ND were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC was uncommon (absent in cohort 1, 12.5% in cohort 2. In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45 was commonest, followed by a deletion in exon 8 (p.S255Vfs*36. Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations as compared to NT (non-truncating mutations group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion: Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research.

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Science.gov (United States)

Patt, Hiren; Koehler, Katrin; Lodha, Sailesh; Yerawar, Chaitanya; Huebner, Angela; Thakkar, Kunal; Arya, Sneha; Nair, Sandhya; Goroshi, Manjunath; Ganesh, Hosahithlu; Sarathi, Vijaya; Lila, Anurag; Bandgar, Tushar; Shah, Nalini

2017-01-01

Objective To study genotype–phenotype spectrum of triple A syndrome (TAS). Methods Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications). Results Median age at presentation was 4.75 years (range: 4–10) and 5 years (range: 1–42) for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI), achalasia and neurological dysfunction (ND) were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC) was uncommon (absent in cohort 1, 12.5% in cohort 2). In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45) was commonest, followed by a deletion in exon 8 (p.S255Vfs*36). Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations) as compared to NT (non-truncating mutations) group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research. PMID:29180348

Clinical placements in mental health: a literature review.

Science.gov (United States)

Happell, Brenda; Gaskin, Cadeyrn J; Byrne, Louise; Welch, Anthony; Gellion, Stephen

2015-01-01

Gaining experience in clinical mental health settings is central to the education of health practitioners. To facilitate the ongoing development of knowledge and practice in this area, we performed a review of the literature on clinical placements in mental health settings. Searches in Academic Search Complete, CINAHL, Medline and PsycINFO databases returned 244 records, of which 36 met the selection criteria for this review. Five additional papers were obtained through scanning the reference lists of those papers included from the initial search. The evidence suggests that clinical placements may have multiple benefits (e.g. improving students' skills, knowledge, attitudes towards people with mental health issues and confidence, as well as reducing their fears and anxieties about working in mental health). The location and structure of placements may affect outcomes, with mental health placements in non-mental health settings appearing to have minimal impact on key outcomes. The availability of clinical placements in mental health settings varies considerably among education providers, with some students completing their training without undertaking such structured clinical experiences. Students have generally reported that their placements in mental health settings have been positive and valuable experiences, but have raised concerns about the amount of support they received from education providers and healthcare staff. Several strategies have been shown to enhance clinical placement experiences (e.g. providing students with adequate preparation in the classroom, implementing learning contracts and providing clinical supervision). Educators and healthcare staff need to work together for the betterment of student learning and the healthcare professions.

[Literature survey on botanical origin and clinical application of traditional Tibetan medicine "Shengdeng"].

Science.gov (United States)

Chen, De-Dao; Meng, Xian-Hua; Zhang, Ying-Shan; Chen, Gen-Ping; Huang, Yu-Lan

2012-10-01

"Shengdeng" is its Tibetan transliteration referring to many medicines. Tibetan doctors and pharmacists in different areas use different drugs in formulation and clinical application, which are easily confused. In order to grasp the formula and clinical application accurately, we conduct a literature survey on history and current state of botanical origin and clinical application of "Shengdeng", making clear the application of various herbs named "Shengdeng" and providing reference to all Tibetan researchers and clinical workers in formulation and clinical application.

Adult Autism Subthreshold Spectrum (AdAS Spectrum): Validation of a questionnaire investigating subthreshold autism spectrum.

Science.gov (United States)

Dell'Osso, L; Gesi, C; Massimetti, E; Cremone, I M; Barbuti, M; Maccariello, G; Moroni, I; Barlati, S; Castellini, G; Luciano, M; Bossini, L; Rocchetti, M; Signorelli, M; Aguglia, E; Fagiolini, A; Politi, P; Ricca, V; Vita, A; Carmassi, C; Maj, M

2017-02-01

Increasing literature has shown the usefulness of a dimensional approach to autism. The present study aimed to determine the psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum), a new questionnaire specifically tailored to assess subthreshold forms of autism spectrum disorder (ASD) in adulthood. 102 adults endorsing at least one DSM-5 symptom criterion for ASD (ASDc), 143 adults diagnosed with a feeding and eating disorder (FED), and 160 subjects with no mental disorders (CTL), were recruited from 7 Italian University Departments of Psychiatry and administered the following: SCID-5, Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale 14-item version (RAADS-14), and AdAS Spectrum. The AdAS Spectrum demonstrated excellent internal consistency for the total score (Kuder-Richardson's coefficient=.964) as well as for five out of seven domains (all coefficients>.80) and sound test-retest reliability (ICC=.976). The total and domain AdAS Spectrum scores showed a moderate to strong (>.50) positive correlation with one another and with the AQ and RAADS-14 total scores. ASDc subjects reported significantly higher AdAS Spectrum total scores than both FED (pcriteria (FED 0 ) and those with one ASD symptom criterion (FED 1 ) , a gradient of severity in AdAS Spectrum scores from CTL subjects to ASD patients, across FED 0 , ASD 1 , FED 1 was shown. The AdAS Spectrum showed excellent internal consistency and test-retest reliability and strong convergent validity with alternative dimensional measures of ASD. The questionnaire performed differently among the three diagnostic groups and enlightened some significant effects of gender in the expression of autistic traits. Copyright © 2016 Elsevier Inc. All rights reserved.

Anxiety and quality of life: clinically anxious children with and without autism spectrum disorders compared

NARCIS (Netherlands)

van Steensel, F.J.A.; Bögels, S.M.; Dirksen, C.D.

2012-01-01

Comorbid anxiety disorders are common in children with autism spectrum disorders (ASD). However, studies comparing children with ASD to clinically anxious children are rare. This study investigated anxiety problems and health-related quality of life in children with high-functioning ASD and comorbid

How to Use the ADI-R for Classifying Autism Spectrum Disorders? Psychometric Properties of Criteria from the Literature in 1,204 Dutch Children

Science.gov (United States)

de Bildt, Annelies; Oosterling, Iris J.; van Lang, Natasja D. J.; Kuijper, Sanne; Dekker, Vera; Sytema, Sjoerd; Oerlemans, Anoek M.; van Steijn, Daphne J.; Visser, Janne C.; Rommelse, Nanda N.; Minderaa, Ruud B.; van Engeland, Herman; van der Gaag, Rutger-Jan; Buitelaar, Jan K.; de Jonge, Maretha V.

2013-01-01

The algorithm of the Autism Diagnostic Interview-Revised provides criteria for autism versus non-autism according to DSM-IV. Criteria for the broader autism spectrum disorders are needed. This study investigated the validity of seven sets of criteria from the literature, in 1,204 Dutch children (aged 3-18 years) with and without mental…

Nurses' clinical reasoning practices that support safe medication administration: An integrative review of the literature.

Science.gov (United States)

Rohde, Emily; Domm, Elizabeth

2018-02-01

To review the current literature about nurses' clinical reasoning practices that support safe medication administration. The literature about medication administration frequently focuses on avoiding medication errors. Nurses' clinical reasoning used during medication administration to maintain medication safety receives less attention in the literature. As healthcare professionals, nurses work closely with patients, assessing and intervening to promote mediation safety prior to, during and after medication administration. They also provide discharge teaching about using medication safely. Nurses' clinical reasoning and practices that support medication safety are often invisible when the focus is medication errors avoidance. An integrative literature review was guided by Whittemore and Knafl's (Journal of Advanced Nursing, 5, 2005 and 546) five-stage review of the 11 articles that met review criteria. This review is modelled after Gaffney et al.'s (Journal of Clinical Nursing, 25, 2016 and 906) integrative review on medical error recovery. Health databases were accessed and systematically searched for research reporting nurses' clinical reasoning practices that supported safe medication administration. The level and quality of evidence of the included research articles were assessed using The Johns Hopkins Nursing Evidence-Based Practice Rating Scale©. Nurses have a central role in safe medication administration, including but not limited to risk awareness about the potential for medication errors. Nurses assess patients and their medication and use knowledge and clinical reasoning to administer medication safely. Results indicated nurses' use of clinical reasoning to maintain safe medication administration was inadequately articulated in 10 of 11 studies reviewed. Nurses are primarily responsible for safe medication administration. Nurses draw from their foundational knowledge of patient conditions and organisational processes and use clinical reasoning that

The Clinical Use of Robots for Individuals with Autism Spectrum Disorders: A Critical Review

Science.gov (United States)

Diehl, Joshua J.; Schmitt, Lauren M.; Villano, Michael; Crowell, Charles R.

2012-01-01

We examined peer-reviewed studies in order to understand the current status of empirically based evidence on the clinical applications of robots in the diagnosis and treatment of Autism Spectrum Disorders (ASD). Studies are organized into four broad categories: (a) the response of individuals with ASD to robots or robot-like behavior in comparison…

Neuromyelitis Optica Spectrum Disorders.

Science.gov (United States)

Akaishi, Tetsuya; Nakashima, Ichiro; Sato, Douglas Kazutoshi; Takahashi, Toshiyuki; Fujihara, Kazuo

2017-05-01

Neuromyelitis optica (NMO) is clinically characterized by severe optic neuritis and transverse myelitis, but recent studies with anti-aquaporin-4-antibody specific to NMO have revealed that the clinical spectrum is wider than previously thought. International consensus diagnostic criteria propose NMO spectrum disorders (NMOSD) as the term to define the entire spectrum including typical NMO, optic neuritis, acute myelitis, brain syndrome, and their combinations. NMOSD is now divided into anti-aquaporin-4-antibody-seropositive NMOSD and -seronegative NMOSD (or unknown serostatus). MR imaging and optical coherence tomography are indispensable in the diagnosis and evaluation of NMOSD. This article reviews the clinical and MR imaging findings of anti-aquaporin-4-antibody-seropositive and anti-myelin oligodendrocyte glycoprotein-antibody-seropositive NMOSD. Copyright © 2017 Elsevier Inc. All rights reserved.

Classifying risk status of non-clinical adolescents using psychometric indicators for psychosis spectrum disorders.

Science.gov (United States)

Fonseca-Pedrero, Eduardo; Gooding, Diane C; Ortuño-Sierra, Javier; Pflum, Madeline; Paino, Mercedes; Muñiz, José

2016-09-30

This study is an attempt to evaluate extant psychometric indicators using latent profile analysis for classifying community-derived individuals based on a set of clinical, behavioural, and personality traits considered risk markers for psychosis spectrum disorders. The present investigation included four hundred and forty-nine high-school students between the ages of 12 and 19. We used the following to assess risk: the Prodromal Questionnaire-Brief (PQ-B), Oviedo Schizotypy Assessment Questionnaire (ESQUIZO-Q), Anticipatory and Consummatory Interpersonal Pleasure Scale-Adolescent version (ACIPS-A), and General Health Questionnaire 12 (GHQ-12). Using Latent profile analysis six latent classes (LC) were identified: participants in class 1 (LC1) displayed little or no symptoms and accounted for 38.53% of the sample; class 2 (LC2), who accounted for 28.06%, also produced low mean scores across most measures though they expressed somewhat higher levels of subjective distress; LC3, a positive schizotypy group (10.24%); LC4 (13.36%), a psychosis high-risk group; LC5, a high positive and negative schizotypy group (4.45%); and LC6, a very high distress, severe clinical high-risk group, comprised 5.34% of the sample. The current research indicates that different latent classes of early individuals at risk can be empirically defined in adolescent community samples using psychometric indicators for psychosis spectrum disorders. These findings may have implications for early detection and prevention strategies in psychosis spectrum disorders. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Vocational Support Approaches in Autism Spectrum Disorder: A Synthesis Review of the Literature

Science.gov (United States)

Nicholas, David B.; Attridge, Mark; Zwaigenbaum, Lonnie; Clarke, Margaret

2015-01-01

This synthesis-based analysis identifies and reviews studies evaluating vocational resources for adults with autism spectrum disorder. It is based on a larger systematic review of intervention studies in autism spectrum disorder, from which a critical interpretive synthesis was conducted on studies related to vocation and autism spectrum disorder.…

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

OpenAIRE

Taylor, Jenny C; Martin, Hilary C; Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David

2015-01-01

To assess factors influencing the success of whole genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases across a broad spectrum of disorders in whom prior screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritisation. We found that jointly calling variants across samples, filtering against both local and e...

Synovial cysts of the hip joint and iliopsoas bursitis: A spectrum of imaging abnormalities

International Nuclear Information System (INIS)

Sartoris, D.J.; Resnick, D.; Greenway, G.

1985-01-01

Synovium-related soft tissue disease around the hip constitutes a spectrum ranging from isolated iliopsoas bursitis to pure articular synovial herniations without bursal involvement. The clinical, pathologic, and radiographic features of these entities are discussed as they pertain to the variety of underlying disorder which predispose to their occurrence. Nine case reports are utilized to illustrate the variable clinical and radiographic presentations which may be encountered. Based upon these cases as well as those in the literature, an imaging algorithm has been developed which should eliminate unnecessary studies and allow prompt and accurate diagnosis. (orig.)

Clinical characteristics of late-onset neuromyelitis optica spectrum disorder: A multicenter retrospective study in Korea.

Science.gov (United States)

Seok, Jin Myoung; Cho, Hye-Jin; Ahn, Suk-Won; Cho, Eun Bin; Park, Min Su; Joo, In-Soo; Shin, Ha Young; Kim, Sun-Young; Kim, Byung-Jo; Kim, Jong Kuk; Cho, Joong-Yang; Huh, So-Young; Kwon, Ohyun; Lee, Kwang-Ho; Kim, Byoung Joon; Min, Ju-Hong

2017-11-01

There are currently few studies regarding late-onset neuromyelitis optica spectrum disorder (LO-NMOSD). We aimed to describe the characteristic features of patients with LO-NMOSD in Korea. Anti-aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder (NMOSD) from nine tertiary hospitals were reviewed retrospectively. The patients were divided into two groups based on age of onset: LO-NMOSD (⩾50 years of age at onset) versus early-onset neuromyelitis optica spectrum disorder (EO-NMOSD) (<50 years of age at onset). Clinical, laboratory, and magnetic resonance imaging (MRI) parameters were investigated. Among a total of 147 patients (125 female; age of onset, 39.4 ± 15.2 years), 45 patients (30.6%) had an age of onset of more than 50 years. Compared to patients with EO-NMOSD, patients with LO-NMOSD had more frequent isolated spinal cord involvement at onset (64.4% vs 37.2%, p = 0.002), less frequent involvement of the optic nerve (40.0% vs 67.7%, p = 0.002), and less frequent brain MRI lesions (31.1% vs 50.0%, p = 0.034). Furthermore, there was a significant positive correlation between age of onset and Expanded Disability Status Scale (EDSS) score at last follow-up ( r = 0.246, p = 0.003). Age of onset could be an important predictor of lesion location and clinical course of patients with NMOSD.

Validity and reliability of the Structured Clinical Interview for Depersonalization–Derealization Spectrum (SCI-DER

Directory of Open Access Journals (Sweden)

Marco Mula

2008-08-01

Full Text Available Marco Mula, Stefano Pini, Simona Calugi, Matteo Preve, Matteo Masini, Ilaria Giovannini, Ciro Conversano, Paola Rucci, Giovanni B CassanoDepartment of Psychiatry, Neurobiology, Pharmacology and Biotechnologies, University of Pisa, ItalyAbstract: This study evaluates the validity and reliability of a new instrument developed to assess symptoms of depersonalization: the Structured Clinical Interview for the Depersonalization-Derealization Spectrum (SCI-DER. The instrument is based on a spectrum model that emphasizes soft-signs, sub-threshold syndromes as well as clinical and subsyndromal manifestations. Items of the interview include, in addition to DSM-IV criteria for depersonalization, a number of features derived from clinical experience and from a review of phenomenological descriptions. Study participants included 258 consecutive patients with mood and anxiety disorders, 16.7% bipolar I disorder, 18.6% bipolar II disorder, 32.9% major depression, 22.1% panic disorder, 4.7% obsessive compulsive disorder, and 1.5% generalized anxiety disorder; 2.7% patients were also diagnosed with depersonalization disorder. A comparison group of 42 unselected controls was enrolled at the same site. The SCI-DER showed excellent reliability and good concurrent validity with the Dissociative Experiences Scale. It significantly discriminated subjects with any diagnosis of mood and anxiety disorders from controls and subjects with depersonalization disorder from controls. The hypothesized structure of the instrument was confirmed empirically.Keywords: depersonalization, derealization, mood disorders, anxiety disorders

Opportunistic spectrum utilization in vehicular communication networks

CERN Document Server

Cheng, Nan

2016-01-01

This brief examines current research on improving Vehicular Networks (VANETs), examining spectrum scarcity due to the dramatic growth of mobile data traffic and the limited bandwidth of dedicated vehicular communication bands and the use of opportunistic spectrum bands to mitigate congestion. It reviews existing literature on the use of opportunistic spectrum bands for VANETs, including licensed and unlicensed spectrum bands and a variety of related technologies, such as cognitive radio, WiFi and device-to-device communications. Focused on analyzing spectrum characteristics, designing efficient spectrum exploitation schemes, and evaluating the date delivery performance when utilizing different opportunistic spectrum bands, the results presented in this brief provide valuable insights on improving the design and deployment of future VANETs.

Anxiety and Quality of Life: Clinically Anxious Children with and without Autism Spectrum Disorders Compared

Science.gov (United States)

van Steensel, Francisca J. A.; Bogels, Susan M.; Dirksen, Carmen D.

2012-01-01

Comorbid anxiety disorders are common in children with autism spectrum disorders (ASD). However, studies comparing children with ASD to clinically anxious children are rare. This study investigated anxiety problems and health-related quality of life in children with high-functioning ASD and comorbid anxiety disorders (referred to as the ASD…

Polymer coating embolism from intravascular medical devices - a clinical literature review.

Science.gov (United States)

Chopra, Amitabh M; Mehta, Monik; Bismuth, Jean; Shapiro, Maksim; Fishbein, Michael C; Bridges, Alina G; Vinters, Harry V

Over the past three decades, lubricious (hydrophobic and/or hydrophilic) polymer-coated devices have been increasingly adopted by interventional physicians and vascular surgeons to access and treat a wider range of clinical presentations. Recent clinical literature highlights the presence of polymer coating emboli within the anatomy - a result of coating separation from an intravascular device - and associates it with a range of adverse clinical sequelae. The 2015 U.S. Food and Drug Administration safety communication titled "Lubricious Coating Separation from Intravascular Medical Devices" acknowledges these concerns and concludes that it will work with stakeholders to develop nonclinical test methodologies, establish performance criteria, and identify gaps in current national and international device standards for coating integrity performance. Despite this communication and multiple case reports from interventional physicians, pathologists, dermatologists and other involved physician specialties, polymer coating embolism remains clinically underrecognized. This article consolidates the available literature on polymer coating embolism (1986-2016) and highlights the following relevant information for the physician: (a) the history and elusive nature of polymer coating embolism; (b) potential incidence rates of this phenomenon; (c) reported histologic findings and clinical effects of polymer emboli in the anatomy; (d) the importance of the collaborative clinician-pathologist partnership to report polymer embolism findings; and (e) the importance to study particulate release from intravascular devices so as to further understand and potentially evolve coated interventional technologies. Preliminary research on coatings highlights the potential of using iterations of coatings on medical devices that attain the desired therapeutic result and mitigate or eliminate particulates altogether. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

[Chronic HCV hepatopathy and cryoglobulinemia. The associated clinical spectrum].

Science.gov (United States)

Pellicano, R; Leone, N; Maiocco, I A; Modena, V; Arena, V; Marietti, G; Puiatti, P; Palmas, F; Rizzetto, M; Ponzetto, A

1999-01-01

The hepatitis C infection (HCV) has numerous extrahepatic manifestations owing to the systemic nature of the infection itself. HCV infects the cells that carry a CD 81 receptor and show a marked tropism for hepatocytes, bone marrow staminal cells and circulating lymphomonocytes. One consequence of this tropism is the activation of B lymphocyte clones with the consequent production of autoantibodies and cryoglobulins. The secondary event is the formation of circulating immune complexes which, having precipitated at an intravascular level, may cause part of the extrahepatic manifestations associated with these infections. This retrospective study evaluated the manifestations correlated and/or associated with HCV hepatitis and mixed cryoglobulinaemia. This analysis showed that 75% of consecutively studied patients reveal clinically important extrahepatic manifestations. This underlines the "broad spectrum" action played by the hepatitis C virus in the host organism.

Clinical spectrum and diagnostic value of antibodies against the potassium channel-related protein complex☆

Science.gov (United States)

Montojo, M.T.; Petit-Pedrol, M.; Graus, F.; Dalmau, J.

2016-01-01

Introduction Antibodies against a protein complex that includes voltage-gated potassium channels (VGKC) have been reported in patients with limbic encephalitis, peripheral nerve hyperexcitability, Morvan's syndrome, and a large variety of neurological syndromes. Review summary In this article, a review is presented of the syndromes associated with antibodies against VGKC-related proteins and the main antigens of this protein complex, the proteins LGI1 (leucine rich glioma inactivated protein 1) and Caspr2 (contactin-associated protein-like 2). The conceptual problems and clinical implications of the description of antibodies against VGKC-related proteins other than LGI1 and Caspr2 are also discussed. Although initial studies indicated the occurrence of antibodies against VGKC, recent investigations have shown that the main antigens are a neuronal secreted protein known as LGI1 which modulates synaptic excitability, and a protein called Caspr2 located on the cell surface and processes of neurons of different brain regions, and at the juxtaparanodal region of myelinated axons. While antibodies against LGI1 preferentially associate with classical limbic encephalitis, antibodies against Caspr2 associate with a wider spectrum of symptoms, including Morvan's syndrome, peripheral nerve hyperexcitability or neuromyotonia, and limbic or more extensive encephalitis. In addition there are reports of patients with antibodies against VGKC-related proteins that are different from LGI1 or Caspr2. In these cases, the identity and location of the antigens are unknown, the syndrome association is not specific, and the response to treatment uncertain. Conclusions The discovery of antigens such as LGI1 and Caspr2 has resulted in a clinical and molecular definition of the broad group of diseases previously attributed to antibodies against VGKC. Considering the literature that describes the presence of antibodies against VGKC other than LGI1 and Caspr2 proteins, we propose a practical

Mobile clinical decision support systems and applications: a literature and commercial review.

Science.gov (United States)

Martínez-Pérez, Borja; de la Torre-Díez, Isabel; López-Coronado, Miguel; Sainz-de-Abajo, Beatriz; Robles, Montserrat; García-Gómez, Juan Miguel

2014-01-01

The latest advances in eHealth and mHealth have propitiated the rapidly creation and expansion of mobile applications for health care. One of these types of applications are the clinical decision support systems, which nowadays are being implemented in mobile apps to facilitate the access to health care professionals in their daily clinical decisions. The aim of this paper is twofold. Firstly, to make a review of the current systems available in the literature and in commercial stores. Secondly, to analyze a sample of applications in order to obtain some conclusions and recommendations. Two reviews have been done: a literature review on Scopus, IEEE Xplore, Web of Knowledge and PubMed and a commercial review on Google play and the App Store. Five applications from each review have been selected to develop an in-depth analysis and to obtain more information about the mobile clinical decision support systems. Ninety-two relevant papers and 192 commercial apps were found. Forty-four papers were focused only on mobile clinical decision support systems. One hundred seventy-one apps were available on Google play and 21 on the App Store. The apps are designed for general medicine and 37 different specialties, with some features common in all of them despite of the different medical fields objective. The number of mobile clinical decision support applications and their inclusion in clinical practices has risen in the last years. However, developers must be careful with their interface or the easiness of use, which can impoverish the experience of the users.

Competitive Employment for Youth with Autism Spectrum Disorders: Early Results from a Randomized Clinical Trial

Science.gov (United States)

Wehman, Paul H.; Schall, Carol M.; McDonough, Jennifer; Kregel, John; Brooke, Valerie; Molinelli, Alissa; Ham, Whitney; Graham, Carolyn W.; Riehle, J. Erin; Collins, Holly T.; Thiss, Weston

2014-01-01

For most youth with autism spectrum disorders (ASD), employment upon graduation from high school or college is elusive. Employment rates are reported in many studies to be very low despite many years of intensive special education services. This paper presented the preliminary results of a randomized clinical trial of Project SEARCH plus ASD…

Intersubjectivity and Psychopathology in the Schizophrenia Spectrum

DEFF Research Database (Denmark)

Henriksen, Mads Gram; Nilsson, Lars Siersbæk

2017-01-01

Recent studies in phenomenological psychopathology emphasize the importance of intersubjectivity for our understanding of schizophrenia. Yet, the central role of the "we" in social experience and engagement is largely absent from this literature. Our study explores the relation between psychopath......Recent studies in phenomenological psychopathology emphasize the importance of intersubjectivity for our understanding of schizophrenia. Yet, the central role of the "we" in social experience and engagement is largely absent from this literature. Our study explores the relation between...... in schizophrenia. Through this framework and with the use of clinical vignettes, we elicit 3 compensatory strategies, which, we suggest, reflect a fragile sense of "we" in the schizophrenia spectrum, i.e. (i) positive withdrawal, (ii) imposing a goal-oriented, spatiotemporal structure on intersubjective engagement......, and (iii) preferring social activities with a clear attribution of social roles and rules. Finally, we discuss the relation between anomalous self-experiences (i.e. self-disorders) and the complicated "we."...

Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

Science.gov (United States)

Al Shibli, Amar; Narchi, Hassib

2015-01-01

Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

The role of emotion in clinical decision making: an integrative literature review

OpenAIRE

Kozlowski, Desirée; Hutchinson, Marie; Hurley, John; Rowley, Joanne; Sutherland, Joanna

2017-01-01

Background Traditionally, clinical decision making has been perceived as a purely rational and cognitive process. Recently, a number of authors have linked emotional intelligence (EI) to clinical decision making (CDM) and calls have been made for an increased focus on EI skills for clinicians. The objective of this integrative literature review was to identify and synthesise the empirical evidence for a role of emotion in CDM. Methods A systematic search of the bibliographic databases PubMed,...

Using Recent BCI Literature to Deepen our Understanding of Clinical Neurofeedback: A Short Review.

Science.gov (United States)

Jeunet, Camille; Lotte, Fabien; Batail, Jean-Marie; Philip, Pierre; Micoulaud Franchi, Jean-Arthur

2018-05-15

In their recent paper, Alkoby et al. (2017) provide the readership with an extensive and very insightful review of the factors influencing NeuroFeedback (NF) performance. These factors are drawn from both the NF literature and the Brain-Computer Interface (BCI) literature. Our short review aims to complement Alkoby et al.'s review by reporting recent additions to the BCI literature. The object of this paper is to highlight this literature and discuss its potential relevance and usefulness to better understand the processes underlying NF and further improve the design of clinical trials assessing NF efficacy. Indeed, we are convinced that while NF and BCI are fundamentally different in many ways, both the BCI and NF communities could reach compelling achievements by building upon one another. By reviewing the recent BCI literature, we identified three types of factors that influence BCI performance: task-specific, cognitive/motivational and technology-acceptance-related factors. Since BCIs and NF share a common goal (i.e., learning to modulate specific neurophysiological patterns), similar cognitive and neurophysiological processes are likely to be involved during the training process. Thus, the literature on BCI training may help (1) to deepen our understanding of neurofeedback training processes and (2) to understand the variables that influence the clinical efficacy of NF. This may help to properly assess and/or control the influence of these variables during randomized controlled trials. Copyright © 2018 IBRO. Published by Elsevier Ltd. All rights reserved.

Improving Clinical Prediction of Bipolar Spectrum Disorders in Youth

Directory of Open Access Journals (Sweden)

Thomas W. Frazier

2014-03-01

Full Text Available This report evaluates whether classification tree algorithms (CTA may improve the identification of individuals at risk for bipolar spectrum disorders (BPSD. Analyses used the Longitudinal Assessment of Manic Symptoms (LAMS cohort (629 youth, 148 with BPSD and 481 without BPSD. Parent ratings of mania symptoms, stressful life events, parenting stress, and parental history of mania were included as risk factors. Comparable overall accuracy was observed for CTA (75.4% relative to logistic regression (77.6%. However, CTA showed increased sensitivity (0.28 vs. 0.18 at the expense of slightly decreased specificity and positive predictive power. The advantage of CTA algorithms for clinical decision making is demonstrated by the combinations of predictors most useful for altering the probability of BPSD. The 24% sample probability of BPSD was substantially decreased in youth with low screening and baseline parent ratings of mania, negative parental history of mania, and low levels of stressful life events (2%. High screening plus high baseline parent-rated mania nearly doubled the BPSD probability (46%. Future work will benefit from examining additional, powerful predictors, such as alternative data sources (e.g., clinician ratings, neurocognitive test data; these may increase the clinical utility of CTA models further.

A systematic literature review of automated clinical coding and classification systems.

Science.gov (United States)

Stanfill, Mary H; Williams, Margaret; Fenton, Susan H; Jenders, Robert A; Hersh, William R

2010-01-01

Clinical coding and classification processes transform natural language descriptions in clinical text into data that can subsequently be used for clinical care, research, and other purposes. This systematic literature review examined studies that evaluated all types of automated coding and classification systems to determine the performance of such systems. Studies indexed in Medline or other relevant databases prior to March 2009 were considered. The 113 studies included in this review show that automated tools exist for a variety of coding and classification purposes, focus on various healthcare specialties, and handle a wide variety of clinical document types. Automated coding and classification systems themselves are not generalizable, nor are the results of the studies evaluating them. Published research shows these systems hold promise, but these data must be considered in context, with performance relative to the complexity of the task and the desired outcome.

Separation anxiety disorder from the perspective of DSM-5: clinical investigation among subjects with panic disorder and associations with mood disorders spectrum.

Science.gov (United States)

Gesi, Camilla; Abelli, Marianna; Cardini, Alessandra; Lari, Lisa; Di Paolo, Luca; Silove, Derrick; Pini, Stefano

2016-02-01

High levels of comorbidity between separation anxiety disorder (SEPAD) and panic disorder (PD) have been found in clinical settings. In addition, there is some evidence for a relationship involving bipolar disorder (BD) and combined PD and SEPAD. We aim to investigate the prevalence and correlates of SEPAD among patients with PD and whether the presence of SEPAD is associated with frank diagnoses of mood disorders or with mood spectrum symptoms. Adult outpatients (235) with PD were assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I), the Panic Disorder Severity Scale (PDSS), the Structured Clinical Interview for Separation Anxiety Symptoms (SCI-SAS), and the Mood Spectrum Self-Report Instrument (MOODS-SR, lifetime version). Of ther 235 subjects, 125 (53.2%) were categorized as having SEPAD and 110 (46.8%) as not. Groups did not differ regarding onset of PD, lifetime prevalence of obsessive compulsive disorder (OCD), social phobia, simple phobia, BD I and II, or major depressive disorder (MDD). SEPAD subjects were more likely to be female and younger; they showed higher rates of childhood SEPAD, higher PDSS scores, and higher MOODS-SR total and manic component scores than subjects without SEPAD. Discussion SEPAD is highly prevalent among PD subjects. Patients with both PD and SEPAD show higher lifetime mood spectrum symptoms than patients with PD alone. Specifically, SEPAD is correlated with the manic/hypomanic spectrum component. Our data confirm the high prevalence of SEPAD in clinical settings. Moreover, our findings corroborate a relationship between mood disorders and SEPAD, highlighting a relationship between lifetime mood spectrum symptoms and SEPAD.

Diagnostic of cognitive epileptiform disintegration with autism spectrum disorders in children of early ages

Directory of Open Access Journals (Sweden)

Kirilova L.G.

2016-06-01

Full Text Available The article, based on the analysis of contemporary scientific literature, presented data on the etiology, pathogenesis, clinical features of cognitive epileptiform disintegration — a special version of autism spectrum disorders. The authors proposed a diagnostic algorithm of this condition in children on the basis of comprehensive clinical examination using brain MRI, EEG monitoring during activity and sleep. MRI identified specific changes in brain structure (macrocephaly, cerebellar hyperplasia, hypoplasia of the corpus callosum, hypoplasia of the thalamus, and others. and specific epileptiform activity on EEG during activity and sleep (changes the focal character in the fronto-central and left temporal areas in the absence or infrequent epileptic seizures, reduction of inhibitory neurotransmitter GABA in the blood 2–3 times. The developed methods enable timely diagnosis to diagnose cognitive epileptiform disintegration with autistic spectrum disorders and appoint pathogenetic treatment with drugs neurometabolic and neuroprotective action, and anticonvulsants.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

NARCIS (Netherlands)

Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

2018-01-01

Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o delineate the clinical spectrum of PURA syndrome and

Can Bayesian Theories of Autism Spectrum Disorder Help Improve Clinical Practice?

Science.gov (United States)

Haker, Helene; Schneebeli, Maya; Stephan, Klaas Enno

2016-01-01

Diagnosis and individualized treatment of autism spectrum disorder (ASD) represent major problems for contemporary psychiatry. Tackling these problems requires guidance by a pathophysiological theory. In this paper, we consider recent theories that re-conceptualize ASD from a "Bayesian brain" perspective, which posit that the core abnormality of ASD resides in perceptual aberrations due to a disbalance in the precision of prediction errors (sensory noise) relative to the precision of predictions (prior beliefs). This results in percepts that are dominated by sensory inputs and less guided by top-down regularization and shifts the perceptual focus to detailed aspects of the environment with difficulties in extracting meaning. While these Bayesian theories have inspired ongoing empirical studies, their clinical implications have not yet been carved out. Here, we consider how this Bayesian perspective on disease mechanisms in ASD might contribute to improving clinical care for affected individuals. Specifically, we describe a computational strategy, based on generative (e.g., hierarchical Bayesian) models of behavioral and functional neuroimaging data, for establishing diagnostic tests. These tests could provide estimates of specific cognitive processes underlying ASD and delineate pathophysiological mechanisms with concrete treatment targets. Written with a clinical audience in mind, this article outlines how the development of computational diagnostics applicable to behavioral and functional neuroimaging data in routine clinical practice could not only fundamentally alter our concept of ASD but eventually also transform the clinical management of this disorder.

Gender Differences in Co-Morbid Psychopathology and Clinical Management in Adults with Autism Spectrum Disorders

Science.gov (United States)

Tsakanikos, Elias; Underwood, Lisa; Kravariti, Eugenia; Bouras, Nick; McCarthy, Jane

2011-01-01

The present study examined rates of co-morbid psychopathology and clinical management/care pathways in adult females (N = 50) and males (N = 100) with autism spectrum disorders (ASD) and intellectual disability (ID) living in community settings. We also compared a sub-sample (N = 60) with ASD to an age-, gender- and ID-matched control group (N =…

Characteristic clinical features of Aspergillus appendicitis: Case report and literature review.

Science.gov (United States)

Gjeorgjievski, Mihajlo; Amin, Mitual B; Cappell, Mitchell S

2015-11-28

This work aims to facilitate diagnosing Aspergillus appendicitis, which can be missed clinically due to its rarity, by proposing a clinical pentad for Aspergillus appendicitis based on literature review and one new case. The currently reported case of pathologically-proven Aspergillus appendicitis was identified by computerized search of pathology database at William Beaumont Hospital, 1999-2014. Prior cases were identified by computerized literature search. Among 10980 pathology reports of pathologically-proven appendicitis, one case of Aspergillus appendicitis was identified (rate = 0.01%). A young boy with profound neutropenia, recent chemotherapy, and acute myelogenous leukemia presented with right lower quadrant pain, pyrexia, and generalized malaise. Abdominal computed tomography scan showed a thickened appendiceal wall and periappendiceal inflammation, suggesting appendicitis. Emergent laparotomy showed an inflamed, thickened appendix, which was resected. The patient did poorly postoperatively with low-grade-fevers while receiving antibacterial therapy, but rapidly improved after initiating amphotericin therapy. Microscopic examination of a silver stain of the appendectomy specimen revealed fungi with characteristic Aspergillus morphology, findings confirmed by immunohistochemistry. Primary Aspergillus appendicitis is exceptionally rare, with only 3 previously reported cases. All three cases presented with (1)-neutropenia, (2)-recent chemotherapy, (3)-acute leukemia, and (4)-suspected appendicitis; (5)-the two prior cases initially treated with antibacterial therapy, fared poorly before instituting anti-Aspergillus therapy. The current patient satisfied all these five criteria. Based on these four cases, a clinical pentad is proposed for Aspergillus appendicitis: clinically-suspected appendicitis, neutropenia, recent chemotherapy, acute leukemia, and poor clinical response if treated solely by antibacterial/anti-candidial therapy. Patients presenting with

Therapeutic songwriting in music therapy, Part II: Comparing the literature with practice across diverse clinical populations

DEFF Research Database (Denmark)

Baker, Felicity; Wigram, Tony; Stott, Dave

2009-01-01

  A growing body of literature on therapeutic songwriting with diverse clinical populations indicates that clinicians employ a wide range of approaches. The purpose of this research was to establish trends in the clinical practice of songwriting as implemented across a range of clinical populations....... Responses to a 21-question on-line survey were obtained from 419 professional music therapists practicing in 29 countries which focused on approaches to songwriting within their practice with a single clinical population. Results suggest that in general, the literature provides good representation for what...... is occurring in clinical practice. Generally, songs were composed with individual clients in single sessions, with lyrics created prior to the music. Clinicians had a significant role in creating the music with improvised and pre-determined musical structures being equally employed.  Chi-square or comparable...

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Science.gov (United States)

Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David; Bento, Celeste; Bignell, Patricia; Blair, Edward; Buckle, Veronica J; Bull, Katherine; Cais, Ondrej; Cario, Holger; Chapel, Helen; Copley, Richard R; Cornall, Richard; Craft, Jude; Dahan, Karin; Davenport, Emma E; Dendrou, Calliope; Devuyst, Olivier; Fenwick, Aimée L; Flint, Jonathan; Fugger, Lars; Gilbert, Rodney D; Goriely, Anne; Green, Angie; Greger, Ingo H.; Grocock, Russell; Gruszczyk, Anja V; Hastings, Robert; Hatton, Edouard; Higgs, Doug; Hill, Adrian; Holmes, Chris; Howard, Malcolm; Hughes, Linda; Humburg, Peter; Johnson, David; Karpe, Fredrik; Kingsbury, Zoya; Kini, Usha; Knight, Julian C; Krohn, Jonathan; Lamble, Sarah; Langman, Craig; Lonie, Lorne; Luck, Joshua; McCarthy, Davis; McGowan, Simon J; McMullin, Mary Frances; Miller, Kerry A; Murray, Lisa; Németh, Andrea H; Nesbit, M Andrew; Nutt, David; Ormondroyd, Elizabeth; Oturai, Annette Bang; Pagnamenta, Alistair; Patel, Smita Y; Percy, Melanie; Petousi, Nayia; Piazza, Paolo; Piret, Sian E; Polanco-Echeverry, Guadalupe; Popitsch, Niko; Powrie, Fiona; Pugh, Chris; Quek, Lynn; Robbins, Peter A; Robson, Kathryn; Russo, Alexandra; Sahgal, Natasha; van Schouwenburg, Pauline A; Schuh, Anna; Silverman, Earl; Simmons, Alison; Sørensen, Per Soelberg; Sweeney, Elizabeth; Taylor, John; Thakker, Rajesh V; Tomlinson, Ian; Trebes, Amy; Twigg, Stephen RF; Uhlig, Holm H; Vyas, Paresh; Vyse, Tim; Wall, Steven A; Watkins, Hugh; Whyte, Michael P; Witty, Lorna; Wright, Ben; Yau, Chris; Buck, David; Humphray, Sean; Ratcliffe, Peter J; Bell, John I; Wilkie, Andrew OM; Bentley, David; Donnelly, Peter; McVean, Gilean

2015-01-01

To assess factors influencing the success of whole genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases across a broad spectrum of disorders in whom prior screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritisation. We found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy. Overall, we identified disease causing variants in 21% of cases, rising to 34% (23/68) for Mendelian disorders and 57% (8/14) in trios. We also discovered 32 potentially clinically actionable variants in 18 genes unrelated to the referral disorder, though only four were ultimately considered reportable. Our results demonstrate the value of genome sequencing for routine clinical diagnosis, but also highlight many outstanding challenges. PMID:25985138

Clinical Case Reporting in the Peer-Reviewed Physical Therapy Literature: Time to Move Toward Functioning.

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Davenport, Todd E

2015-12-01

Physical therapists increasingly are contributing clinical case reports to the health literature, which form the basis for higher quality evidence that has been incorporated into clinical practice guidelines. Yet, few resources exist to assist physical therapists with the basic mechanics and quality standards of producing a clinical case report. This situation is further complicated by the absence of uniform standards for quality in case reporting. The importance of including a concise yet comprehensive description of patient functioning in all physical therapy case reports suggest the potential appropriateness of basing quality guidelines on the World Health Organization's International Classification of Functioning Disability and Health (ICF) model. The purpose of this paper is to assist physical therapists in creating high-quality clinical case reports for the peer-reviewed literature using the ICF model as a guiding framework. Along these lines, current recommendations related to the basic mechanics of writing a successful clinical case report are reviewed, as well and a proposal for uniform clinical case reporting requirements is introduced with the aim to improve the quality and feasibility of clinical case reporting in physical therapy that are informed by the ICF model. Copyright © 2013 John Wiley & Sons, Ltd.

Korean Culture and Autism Spectrum Disorders

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Kang-Yi, Christina D.; Grinker, Roy R.; Mandell, David S.

2013-01-01

This paper reviews the literature on early child development among Koreans, with a focus on autism spectrum disorders (ASD). The literature review of 951 abstracts in English, 101 abstracts in Korean and 27 full articles published from 1994 to 2011 was performed to understand the presentation of and response to ASD in Korean culture. Based on…

Mobile technology and its use in clinical nursing education: a literature review.

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O'Connor, Siobhan; Andrews, Tom

2015-03-01

Nursing students face a variety of challenges to learning in clinical practice, from the theory-practice gap, to a lack of clinical supervision and the ad hoc nature of learning in clinical environments. Mobile technology is proposed as one way to address these challenges. This article comprehensively summarizes and critically reviews the available literature on mobile technology used in undergraduate clinical nursing education. It identifies the lack of clear definitions and theory in the current body of evidence; the variety of mobile devices and applications used; the benefits of mobile platforms in nursing education; and the complexity of sociotechnical factors, such as the cost, usability, portability, and quality of mobile tools, that affect their use in undergraduate clinical nursing education. Implications for nursing education and practice are outlined, and recommendations for future research are discussed. Copyright 2015, SLACK Incorporated.

Clinical Ethics Support for Healthcare Personnel: An Integrative Literature Review.

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Rasoal, Dara; Skovdahl, Kirsti; Gifford, Mervyn; Kihlgren, Annica

2017-12-01

This study describes which clinical ethics approaches are available to support healthcare personnel in clinical practice in terms of their construction, functions and goals. Healthcare personnel frequently face ethically difficult situations in the course of their work and these issues cover a wide range of areas from prenatal care to end-of-life care. Although various forms of clinical ethics support have been developed, to our knowledge there is a lack of review studies describing which ethics support approaches are available, how they are constructed and their goals in supporting healthcare personnel in clinical practice. This study engages in an integrative literature review. We searched for peer-reviewed academic articles written in English between 2000 and 2016 using specific Mesh terms and manual keywords in CINAHL, MEDLINE and Psych INFO databases. In total, 54 articles worldwide described clinical ethics support approaches that include clinical ethics consultation, clinical ethics committees, moral case deliberation, ethics rounds, ethics discussion groups, and ethics reflection groups. Clinical ethics consultation and clinical ethics committees have various roles and functions in different countries. They can provide healthcare personnel with advice and recommendations regarding the best course of action. Moral case deliberation, ethics rounds, ethics discussion groups and ethics reflection groups support the idea that group reflection increases insight into ethical issues. Clinical ethics support in the form of a "bottom-up" perspective might give healthcare personnel opportunities to think and reflect more than a "top-down" perspective. A "bottom-up" approach leaves the healthcare personnel with the moral responsibility for their choice of action in clinical practice, while a "top-down" approach risks removing such moral responsibility.

Validation of autism spectrum disorder diagnoses recorded in the Clinical Practice Research Datalink, 1990–2014

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Hagberg KW

2017-09-01

Full Text Available Katrina Wilcox Hagberg, Susan S Jick Boston Collaborative Drug Surveillance Program, Boston University School of Public Health, Lexington, MA, USA Background: Prior studies have reported that the validity of autism spectrum disorder (ASD diagnoses recorded in the Clinical Practice Research Datalink (CPRD was high; however, diagnostic criteria and screening practices have changed since the last study was published in 2004.Objectives: 1 To calculate the positive predictive value (PPV of ASD diagnoses recorded in the CPRD compared to original medical records and 2 to describe characteristics of cases and use of clinical codes that support the ASD diagnosis as recorded in the electronic data by general practitioners over time.Methods: We identified children with a code for ASD (autism spectrum disorder, autism, Asperger’s, or pervasive developmental disorder in the CPRD from 1990 to 2014. We evaluated presence of codes in the electronic medical record indicating the presence of developmental delay, speech delay, behavioral problems, and other supporting clinical codes (e.g., therapy, referrals, etc.. We also evaluated changes in recording of these clinical codes over time. We compared the information present in the electronic medical record to original medical records for a sample of cases and calculated PPVs of ASD diagnoses recorded in the CPRD.Results: We identified 2154 children with a code for ASD. The mean age at diagnosis was 5.8 years, and 84% of cases were male. The majority (78.4% had 1 ASD diagnosis code in their electronic medical record. Approximately half of the cases had a code indicating behavioral problem, developmental delay, or speech delay, and 24.7% had a code indicating specialist referral or visit. After review of original medical records, the PPV of ASD diagnoses recorded in the CPRD was 91.9%. Conclusion: The results of this study suggest that ASD diagnoses recorded in the CPRD are reliable and can be used with confidence

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

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Juliana F. Mazzeu

2007-03-01

Full Text Available Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS and Wolf-Hirschhorn syndrome (WHS, the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH. In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.

[Acupuncture for aphasia: a retrospective analysis of clinical literature].

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Tan, Jie; Zhang, Hong; Han, Guodong; Ai, Kun; Deng, Shifeng

2016-04-01

With the Meta-analysis method, the clinical efficacy of acupuncture and other regular methods for aphasia was evaluated, and the acupoints selection for aphasia was explored. The acupuncture literature of clinical randomized control trials for aphasia published in CNKI, WANFANG, VIP and CBM database was searched; the statistical analysis of clinical efficacy of acupuncture and other regular methods for aphasia was performed by using software Revman 5. 2 provided by Cochrane library. A file of Microsoft Excel was established to perform the analysis of acupoints selection based on frequency analysis method, so as to summarize the characteristics and rules. Totally 385 articles were searched, and 37 articles those met the inclusive criteria was included, involving 1,260 patients in the acupuncture group and 1 238 patients in the control group. The Meta-analysis results showed OR = 3.82, 95% Cl [3.01, 4.85]; rhombus was located on the right side and the funnel plot was nearly symmetry, indicating the treatment effect of the acupuncture group for aphasia was superior to the control group (Z = 11.04, P aphasia is superior to that of speech rehabilitation training and medication treatment alone. The clinical treatment for aphasia focuses on its local effect; the main acupoints are in the head and face, and the meridians are governor vessel, extra channels and conception vessel.

Clinical Manifestations of Self-disorders in Schizophrenia Spectrum Conditions

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Henriksen Mads Gram

2017-09-01

Full Text Available This article explores the phenomenologically informed, theoretical and empirical research direction on self-disorders in the schizophrenia spectrum conditions. First, we describe the concept of ‘self’ that is operative in the concept of ‘self-disorders’ and we discuss how this self may be disordered or fragile in the schizophrenia spectrum. Second, we offer a detailed psychopathological presentation and discussion of 3 patients with schizophrenia. The vignettes provide paradigmatic examples of self-disorders in schizophrenia. Third, we summarize the main findings in the current empirical research on self-disorders. These findings consistently indicate that self-disorders constitute a crucial, trait phenotype of the schizophrenia spectrum.

Disordered Self in the Schizophrenia Spectrum

DEFF Research Database (Denmark)

Parnas, Josef; Henriksen, Mads Gram

2014-01-01

This article explores the phenomenological and empirical rediscovery of anomalous self-experience as a core feature of the schizophrenia spectrum disorders and presents the current status of research in this field. Historically, a disordered self was considered to be a constitutive phenotype...... of schizophrenia. Although the notion of a disordered self has continued to appear occasionally over the years-mainly in the phenomenologically or psychodynamically oriented literature-this notion was usually considered as a theoretical construct rather than as referring to concretely lived anomalous experiences....... Empirical research on the disorders of self-experience in schizophrenia can be traced back to the US-Denmark psychopathological collaboration in the well-known adoption and high-risk studies, which aimed at identifying trait or phenotypic vulnerability features. This research was later followed by clinical...

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

DEFF Research Database (Denmark)

Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed

2010-01-01

Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

Demographic and Clinical Characteristics Associated with Engagement in Behavioral Health Treatment among Children with Autism Spectrum Disorders

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Croen, Lisa A.; Shankute, Naomi; Davignon, Meghan; Massolo, Maria L.; Yoshida, Cathleen

2017-01-01

This study investigates demographic and clinical factors associated with initiation, continuation, and adherence to behavioral health treatment (BHT) among children with autism spectrum disorder. Among 293 insured children referred for applied behavior analysis (ABA) based BHT, 23% never initiated treatment. Among those initiating treatment, 31%…

Assessing the Clinical Skills of Dental Students: A Review of the Literature

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Taylor, Carly L.; Grey, Nick; Satterthwaite, Julian D.

2013-01-01

Education, from a student perspective, is largely driven by assessment. An effective assessment tool should be both valid and reliable, yet this is often not achieved. The aim of this literature review is to identify and appraise the evidence base for assessment tools used primarily in evaluating clinical skills of dental students. Methods:…

Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

OpenAIRE

Ranieri, V.; Barratt, H.; Fulop, N.; Rees, G.

2016-01-01

Background: The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. / Objectives: To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. / Design: ...

Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

OpenAIRE

Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

2016-01-01

Background The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. Objectives To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. Design This st...

Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities

OpenAIRE

Mahajnah, Muhammad; Sharkia, Rajech; Shalabe, Haitham; Terkel-Dawer, Ruth; Akawi, Ashraf; Zelnik, Nathanel

2015-01-01

Despite the increased global prevalence and recognition of autistic spectrum disorder (ASD), it is still scarcely reported in the Arab world. Though Israel has a higher prevalence of ASD, a previous national survey of patients diagnosed between 1972 and 2004, demonstrated that 98% of them were of Jewish ancestry. The disproportional low number of Arab children with ASD in Israel is unclear but may reflect lower awareness and cultural bias. In the present study we collected clinical and demogr...

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

DEFF Research Database (Denmark)

Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

2016-01-01

Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from...

Religion, Spirituality, and HIV Clinical Outcomes: A Systematic Review of the Literature.

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Doolittle, B R; Justice, A C; Fiellin, D A

2018-06-01

This systematic review evaluates the association between religion, spirituality and clinical outcomes in HIV-infected individuals. A systematic literature review was conducted for all English language articles published between 1980 and 2016 in relevant databases. Six hundred fourteen studies were evaluated. 15 met inclusion criteria. Ten (67%) studies reported a positive association between religion or spirituality and a clinical HIV outcome. Two (13%) studies failed to detect such an association; and two (13%) demonstrated a negative association. One study (7%) identified features of religiosity and spirituality that had both negative and positive associations with HIV clinical outcomes. Recognizing the religious or spiritual commitments of patients may serve as an important component of patient care. Further longitudinal studies and interventions might be required to further clarify the potential impact of religion and spirituality on HIV clinical outcomes.

Spectrum of Disorders Associated with Elevated Serum IgG4 Levels Encountered in Clinical Practice

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Jay H. Ryu

2012-01-01

Full Text Available IgG4-related disease (IgG4-RD is a recently described systemic fibroinflammatory disease associated with elevated circulating levels of IgG4 and manifests a wide spectrum of clinical presentations. Although serum IgG4 level has been described to be the most sensitive and specific laboratory test for the diagnosis of IgG4-RD, it is recognized that an elevated serum IgG4 level can be encountered in other diseases. In this study, we sought to identify the frequency of IgG4-RD and other disease associations in patients with elevated serum IgG4 levels seen in clinical practice. Among 3,300 patients who underwent IgG subclass testing over a 2-year period from January 2009 to December 2010, 158 (4.8% had an elevated serum IgG4 level (>140 mg/dL. IgG4 subclass testing was performed for evaluation of suspected IgG4-RD or immunodeficiency. Twenty-nine patients (18.4% had definite or possible IgG4-RD. Among those patients without IgG4-RD, a broad spectrum of biliary tract, pancreatic, liver, and lung diseases, as well as systemic vasculitis, was diagnosed. We conclude that patients with elevated serum IgG4 levels encountered in clinical practice manifest a wide array of disorders, and only a small minority of them has IgG4-RD.

Assessment of the clinical efficacy of the heart spectrum blood pressure monitor for diagnosis of atrial fibrillation: An unblinded clinical trial.

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Kao, Wei-Fong; Hou, Sen-Kuang; Huang, Chun-Yao; Chao, Chun-Chieh; Cheng, Chung-Chih; Chen, Yi-Jung

2018-01-01

Atrial fibrillation (AF) is the most common arrhythmia. The most common diagnostic method, 12-lead electrocardiogram (ECG), can record episodes of arrhythmia from which the type and severity can be determined. The Heart Spectrum Blood Pressure Monitor (P2; OSTAR Meditech Corp., New Taipei City, Taiwan) is used to measure cardiovascular pressure change with fast Fourier transform (FFT) analysis to obtain heart rate frequency variability and accurate blood pressure data. We compared the diagnostic efficacy of the Heart Spectrum Blood Pressure Monitor to a 12-lead ECG (gold standard) for patients with AF. Three measurement methods were used in this study to analyze the heart index and compare the results with simultaneous 12-lead ECG: blood pressure; mean arterial pressure, which was calculated from individual blood pressure as a constant pressure; and a constant pressure of 60 mmHg. The physician used a 12-lead ECG and the Heart Spectrum Blood Pressure Monitor simultaneously. The Heart Spectrum Blood Pressure Monitor used FFT analysis to diagnose AF, and the findings were compared to the 12-lead ECG readings. This unblinded clinical trial was conducted in the emergency department of Taipei Medical University Hospital. Twenty-nine subjects with AF and 33 without AF aged 25 to 97 y (mean, 63.5 y) were included. Subjects who were exposed to high-frequency surgical equipment during testing, those with cardiac pacemakers or implantable defibrillators, and pregnant women were excluded. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 97%, 97%, 97%, and 97%, respectively, for method 1; 90%, 100%, 100%, and 91%, respectively, for method 2; and 100%, 94%, 94%, and 100%, respectively, for method 3. The sensitivity, specificity, PPV, and NPV for both methods ranged between 90% and 100%, indicating that the Heart Spectrum Blood Pressure Monitor can be effectively applied for AF detection.

Efficacy of the ADEC in Identifying Autism Spectrum Disorder in Clinically Referred Toddlers in the US.

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Hedley, Darren; Nevill, Rose E; Monroy-Moreno, Yessica; Fields, Natalie; Wilkins, Jonathan; Butter, Eric; Mulick, James A

2015-08-01

The Autism Detection in Early Childhood (ADEC) is a brief, play-based screening tool for the assessment of autism spectrum disorder (ASD) in children aged 12-36 months. We examined the psychometric properties of the ADEC in a clinical sample of toddlers (n = 114) referred to a US pediatric hospital for assessment due to concerns of developmental delay or ASD. The ADEC (cutoff = 11) returned good sensitivity (.93-.94) but poorer specificity (.62-.64) for best estimate clinical diagnosis of ASD, and compared favorably with the ADOS-2. Internal consistency was acceptable, α = .80, and inter-rater reliability was high, ICC = .95. Results support the use of the ADEC as a clinical screen for ASD.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

OpenAIRE

Moreno-Igoa, María; Hernández-Charro, Blanca; Bengoa-Alonso, Amaya; Pérez-Juana-del-Casal, Aranzazu; Romero-Ibarra, Carlos; Nieva-Echebarria, Beatriz; Ramos-Arroyo, María Antonia

2015-01-01

Background Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of this disorder, which might indicate that an additional gene or genes, located in ...

Acute Transverse Myelitis in Children, Literature Review.

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Tavasoli, Azita; Tabrizi, Aidin

2018-01-01

Acute transverse myelitis (ATM) is a rare inflammatory demyelinating disorder characterized by relatively acute onset of motor, sensory, and autonomic dysfunction. Children comprise 20% of total cases of ATM. In this review, we described the current literature on childhood ATM, focusing on the epidemiology, pathogenesis, clinical presentation, approach to diagnosis, differential diagnosis, treatment and outcome in the pediatric population. We searched the related articles in electronic databases such as Scopus, EMBASE, Google Scholar, and PubMed. All study designs were included and the essential key words for searching were myelitis, acute transverse myelitis, childhood transverse myelitis, and acquired demyelinating syndromes. The related data focusing on the epidemiology, pathogenesis, clinical presentation, diagnostic approach and differential diagnosis, treatment and outcome of pediatric ATM were gathered and described. ATM is a heterogeneous disorder in children with a broad spectrum of clinical presentation, etiology, and outcome. It may be the first presentation of relapsing acquired demyelinating syndromes and also must be distinguished from compressive and noninflamatory myelopathies. Correct diagnosis is crucial for treatment and prognosis.

Clinical spectrum and diagnostic value of antibodies against the potassium channel related protein complex.

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Montojo, M T; Petit-Pedrol, M; Graus, F; Dalmau, J

2015-06-01

Antibodies against a protein complex that includes voltage-gated potassium channels (VGKC) have been reported in patients with limbic encephalitis, peripheral nerve hyperexcitability, Morvan's syndrome, and a large variety of neurological syndromes. In this article, a review is presented of the syndromes associated with antibodies against VGKC-related proteins and the main antigens of this protein complex, the proteins LGI1 (leucine rich glioma inactivated protein 1) and Caspr2 (contactin-associated protein-like 2). The conceptual problems and clinical implications of the description of antibodies against VGKC-related proteins other than LGI1 and Caspr2 are also discussed. Although initial studies indicated the occurrence of antibodies against VGKC, recent investigations have shown that the main antigens are a neuronal secreted protein known as LGI1 which modulates synaptic excitability, and a protein called Caspr2 located on the cell surface and processes of neurons of different brain regions, and at the juxtaparanodal region of myelinated axons. While antibodies against LGI1 preferentially associate with classical limbic encephalitis, antibodies against Caspr2 associate with a wider spectrum of symptoms, including Morvan's syndrome, peripheral nerve hyperexcitability or neuromyotonia, and limbic or more extensive encephalitis. In addition there are reports of patients with antibodies against VGKC-related proteins that are different from LGI1 or Caspr2. In these cases, the identity and location of the antigens are unknown, the syndrome association is not specific, and the response to treatment uncertain. The discovery of antigens such as LGI1 and Caspr2 has resulted in a clinical and molecular definition of the broad group of diseases previously attributed to antibodies against VGKC. Considering the literature that describes the presence of antibodies against VGKC other than LGI1 and Caspr2 proteins, we propose a practical algorithm for the diagnosis and treatment

Intracystic Papillary Carcinoma in the Male Breast: A Rare Endpoint of a Wide Spectrum

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Ketan Vagholkar

2013-01-01

Full Text Available Introduction. Fibrocystic disease of the male breast is uncommon. The presence of a spectrum of changes ranging from fibrocystic disease to duct papilloma to papillary carcinoma in the same patient renders the case a rarity and therefore reportable. Case Report. A case of intracystic papillary carcinoma of the male breast is presented. Discussion. The pathological, clinical, diagnostic, and therapeutic options are discussed after reviewing the literature. Conclusion. Modified radical mastectomy with axillary clearance is the safest option for established cases.

Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder

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Valsamma eEapen

2013-09-01

Full Text Available Autism Spectrum Disorder (ASD is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD.

Methamphetamine: An Update on Epidemiology, Pharmacology, Clinical Phenomenology, and Treatment Literature

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Courtney, Kelly E.; Ray, Lara A.

2014-01-01

Background Despite initial reports of a decline in use in the early 2000s, methamphetamine remains a significant public health concern with known neurotoxic and neurocognitive effects to the user. The goal of this review is to update the literature on methamphetamine use and addiction since its assent to peak popularity in 1990s. Methods Specifically, we first review recent epidemiological reports with a focus on methamphetamine accessibility, changes in use and disorder prevalence rates over time, and accurate estimates of the associated burden of care to the individual and society. Second, we review methamphetamine pharmacology literature with emphasis on the structural and functional neurotoxic effects associated with repeated use of the drug. Third, we briefly outline the findings on methamphetamine-related neurocognitive deficits as assessed via behavioral and neuroimaging paradigms. Lastly, we review the clinical presentation of methamphetamine addiction and the evidence supporting the available psychosocial and pharmacological treatments within the context of an addiction biology framework. Conclusion Taken together, this review provides a broad-based update of the available literature covering methamphetamine research over the past two decades and concludes with recommendations for future research. PMID:25176528

Psychiatric Comorbidity and Functioning in a Clinically Referred Population of Adults with Autism Spectrum Disorders: A Comparative Study

Science.gov (United States)

Joshi, Gagan; Wozniak, Janet; Petty, Carter; Martelon, Mary Kate; Fried, Ronna; Bolfek, Anela; Kotte, Amelia; Stevens, Jonathan; Furtak, Stephannie L.; Bourgeois, Michelle; Caruso, Janet; Caron, Ashley; Biederman, Joseph

2013-01-01

To systematically examine the patterns of psychiatric comorbidity and functioning in clinically referred adults with autism spectrum disorders (ASD). Psychiatrically referred adults with and without ASD were compared on measures assessing for psychiatric comorbidity and psychosocial functioning. Sixty-three adults with ASD participated in the…

Episodic Laryngeal Breathing Disorders: Literature Review and Proposal of Preliminary Theoretical Framework.

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Shembel, Adrianna C; Sandage, Mary J; Verdolini Abbott, Katherine

2017-01-01

The purposes of this literature review were (1) to identify and assess frameworks for clinical characterization of episodic laryngeal breathing disorders (ELBD) and their subtypes, (2) to integrate concepts from these frameworks into a novel theoretical paradigm, and (3) to provide a preliminary algorithm to classify clinical features of ELBD for future study of its clinical manifestations and underlying pathophysiological mechanisms. This is a literature review. Peer-reviewed literature from 1983 to 2015 pertaining to models for ELBD was searched using Pubmed, Ovid, Proquest, Cochrane Database of Systematic Reviews, and Google Scholar. Theoretical models for ELBD were identified, evaluated, and integrated into a novel comprehensive framework. Consensus across three salient models provided a working definition and inclusionary criteria for ELBD within the new framework. Inconsistencies and discrepancies within the models provided an analytic platform for future research. Comparison among three conceptual models-(1) Irritable larynx syndrome, (2) Dichotomous triggers, and (3) Periodic occurrence of laryngeal obstruction-showed that the models uniformly consider ELBD to involve episodic laryngeal obstruction causing dyspnea. The models differed in their description of source of dyspnea, in their inclusion of corollary behaviors, in their inclusion of other laryngeal-based behaviors (eg, cough), and types of triggers. The proposed integrated theoretical framework for ELBD provides a preliminary systematic platform for the identification of key clinical feature patterns indicative of ELBD and associated clinical subgroups. This algorithmic paradigm should evolve with better understanding of this spectrum of disorders and its underlying pathophysiological mechanisms. Copyright © 2017 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

A Review of literature on the clinical psychological study on the hearing impaired in Japan

OpenAIRE

Fujitomo, Masakazu

2002-01-01

The purpose of this paper was to review literatures about past clinical psychological studies on the hearing impaired in japan, in order to get suggestions about subjects on psychological supports and clinical psychological studies for the hearing impaired in Japan. First, in the topic of the history and subjects on the clinical psychological study and psycological supports for the hearing impaired, it was showed that the pathological viewpoint was taken place for the cultural viewpoint in th...

76 FR 72957 - 4th Annual Trauma Spectrum Conference: Bridging the Gap Between Research and Clinical Practice of...

Science.gov (United States)

2011-11-28

... Conference: Bridging the Gap Between Research and Clinical Practice of Psychological Health and Traumatic... is hereby given of the ``4th Annual Trauma Spectrum Conference: Bridging the Gap Between Research and... Health (NIH), Bethesda, Maryland. This year's event focuses on bridging the gap between research and...

Symptoms of autism and schizophrenia spectrum disorders in clinically referred youth with oppositional defiant disorder.

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Gadow, Kenneth D; Drabick, Deborah A G

2012-01-01

Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N=1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed DSM-IV-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or noncompliant symptom (NS) subtypes. Two different classification strategies were used: within-informant (source-specific) and between-informant (source-exclusive). For the source-specific strategy, youth were classified AIS, NS, or Control (C) according to mothers' and teachers' ratings separately. A second set of analyses focused on youth classified AIS according to mother or teacher report but not both (source-exclusive) versus both mother and teacher (cross-informant) AIS. Results indicated the mother-defined source-specific AIS groups generally evidenced the most severe ASD and SSD symptoms (AIS>NS>C), but this was more pronounced among younger youth. Teacher-defined source-specific ODD groups exhibited comparable levels of symptom severity (AIS, NS>C) with the exception of SSD (AIS>NS>C; younger youth). Source-exclusive AIS groups were clearly differentiated from each other, but there was little evidence of differential symptom severity in cross-informant versus source-exclusive AIS. These findings were largely dependent on the informant used to define the source-exclusive groups. AIS and NS groups differed in their associations with ASD and SSD symptoms. Informant discrepancy provides valuable information that can inform nosological and clinical concerns and has important implications for studies that use different strategies to configure clinical phenotypes. Copyright © 2012 Elsevier Ltd. All rights reserved.

Self-ordered pointing and visual conditional associative learning tasks in drug-free schizophrenia spectrum disorder patients

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Galluzzo Alessandro

2008-01-01

Full Text Available Abstract Background There is evidence of a link between schizophrenia and a deficit of working memory, but this has been derived from tasks not specifically developed to probe working memory per se. Our aim was to investigate whether working memory deficits may be detected across different paradigms using the self-ordered pointing task (SOPT and the visual conditional associative learning task (VCALT in patients with schizophrenia spectrum disorders and healthy controls. The current literature suggests deficits in schizophrenia spectrum disorder patients versus healthy controls but these studies frequently involved small samples, broad diagnostic criteria, inclusion of patients on antipsychotic medications, and were not controlled for symptom domains, severity of the disorder, etc. To overcome some of these limitations, we investigated the self-monitoring and conditional associative learning abilities of a numerically representative sample of healthy controls and a group of non-deteriorated, drug-free patients hospitalized for a schizophrenia spectrum disorder with florid, mainly positive psychotic symptoms. Methods Eighty-five patients with a schizophrenia spectrum disorder (DSM-IV-TR diagnosis of schizophrenia (n = 71 or schizophreniform disorder (n = 14 and 80 healthy controls entered the study. The clinical picture was dominated by positive symptoms. The healthy control group had a negative personal and family history of schizophrenia or mood disorder and satisfied all the inclusion and exclusion criteria other than variables related to schizophrenia spectrum disorders. Results Compared to controls, patients had worse performances on SOPT, VCALT and higher SOPT/VCALT ratios, not affected by demographic or clinical variables. ROC curves showed that SOPT, VCALT, and SOPT/VCALT ratio had good accuracy in discriminating patients from controls. The SOPT and VCALT scores were inter-correlated in controls but not in patients. Conclusion The

Sleep Health Issues for Children with FASD: Clinical Considerations

OpenAIRE

Jan, James E.; Asante, Kwadwo O.; Conry, Julianne L.; Fast, Diane K.; Bax, Martin C. O.; Ipsiroglu, Osman S.; Bredberg, Elizabeth; Loock, Christine A.; Wasdell, Michael B.

2010-01-01

This article describes the combined clinical experience of a multidisciplinary group of professionals on the sleep disturbances of children with fetal alcohol spectrum disorders (FASD) focusing on sleep hygiene interventions. Such practical and comprehensive information is not available in the literature. Severe, persistent sleep difficulties are frequently associated with this condition but few health professionals are familiar with both FASD and sleep disorders. The sleep promotion techniqu...

Longevity and clinical performance of IPS-Empress ceramic restorations--a literature review.

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El-Mowafy, Omar; Brochu, Jean-François

2002-04-01

A literature review of longevity and clinical performance of IPS-Empress restorations is presented. A MEDLINE search was conducted in fall 2000. Selection criteria were set so as to identify suitable clinical trials that were published in full and that had lasted more than 2 years. A total of 6 clinical trials on the performance of IPS-Empress inlays and onlays and a total of 3 clinical trials on the performance of IPS-Empress crowns were identified. Survival rates for IPS-Empress inlays and onlays ranged from 96% at 4.5 years to 91% at 7 years; most failures were due to bulk fracture. IPS-Empress crowns had a survival rate ranging from 92% to 99% at 3 to 3.5 years; crown failure was also mainly due to fracture. Dentists should inform their patients about these survival rates when offering such treatment. The use of IPS-Empress crowns in the posterior of the mouth is not recommended until the results of more long-term clinical trials are available.

Gestural Communication in Children with Autism Spectrum Disorders during Mother-Child Interaction

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Mastrogiuseppe, Marilina; Capirci, Olga; Cuva, Simone; Venuti, Paola

2015-01-01

Children with autism spectrum disorders display atypical development of gesture production, and gesture impairment is one of the determining factors of autism spectrum disorder diagnosis. Despite the obvious importance of this issue for children with autism spectrum disorder, the literature on gestures in autism is scarce and contradictory. The…

Association of Schizophrenia Spectrum and Autism Spectrum Disorder (ASD) Symptoms in Children with ASD and Clinic Controls

Science.gov (United States)

Gadow, Kenneth D.

2013-01-01

Objective: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N = 147) and child psychiatry outpatient referrals (Controls; N = 339). Method: Participants were subdivided into four…

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

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Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

2018-01-01

Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

Understanding the Self in Individuals with Autism Spectrum Disorders (ASD: A Review of Literature

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Ann X. Huang

2017-08-01

Full Text Available When the system of self is explored in individuals with Autism Spectrum Disorders (ASDs, it is important to measure it via both their own perceptions of the self and their understanding of others’ perceptions on themselves at a multidimensional level. This paper reviews existing research in this area using a three-dimension approach. Researchers have found that impairments in the self-system are usually correlated with these individuals’ social and cognitive functioning levels: high functioning individuals with ASD who have higher IQ are found to have better awareness of their limitations in social and communication domains than those with lower IQ. Many researchers believe that there are impairments in the psychological (but not physical self in individuals with ASD, such as theory of mind deficits due to social and communicative impairments. On the other hand, some researchers argue that individuals with ASD have selective rather than global impairments in the self. In other words, the impairment usually lies in a specific aspect of functioning in individuals with ASD. Insights from the review of existing literature on this topic may be able to shed some lights on the development of effective intervention programs to improve social communication deficits in this population.

Evaluating clinical ethics support in mental healthcare: a systematic literature review.

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Hem, Marit Helene; Pedersen, Reidar; Norvoll, Reidun; Molewijk, Bert

2015-06-01

A systematic literature review on evaluation of clinical ethics support services in mental healthcare is presented and discussed. The focus was on (a) forms of clinical ethics support services, (b) evaluation of clinical ethics support services, (c) contexts and participants and (d) results. Five studies were included. The ethics support activities described were moral case deliberations and ethics rounds. Different qualitative and quantitative research methods were utilized. The results show that (a) participants felt that they gained an increased insight into moral issues through systematic reflection; (b) there was improved cooperation among multidisciplinary team members; (c) it was uncertain whether clinical ethics support services led to better patient care; (d) the issue of patient and client participation is complex; and (e) the implementation process is challenging. Clinical ethics support services have mainly been studied through the experiences of the participating facilitators and healthcare professionals. Hence, there is limited knowledge of whether and how various types of clinical ethics support services influence the quality of care and how patients and relatives may evaluate clinical ethics support services. Based on the six excluded 'grey zone articles', in which there was an implicit focus on ethics reflection, other ways of working with ethical reflection in practice are discussed. Implementing and evaluating clinical ethics support services as approaches to clinical ethics support that are more integrated into the development of good practice are in focus. In order to meet some of the shortcomings of the field of clinical ethics support services, a research project that aims to strengthen ethics support in the mental health services, including patients' and caregivers' views on ethical challenges, is presented. © The Author(s) 2014.

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

OpenAIRE

Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

2016-01-01

We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and deve...

Systematic review of the prevalence of bipolar disorder and bipolar spectrum disorders in population-based studies

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José Caetano Dell'Aglio Jr.

2013-01-01

Full Text Available This paper describes the findings of a systematic literature review aimed at providing an overview of the lifetime prevalence of bipolar disorder and bipolar spectrum disorders in population-based studies. Databases MEDLINE, ProQuest, Psychnet, and Web of Science were browsed for papers published in English between 1999 and May 2012 using the following search string: bipolar disorders OR bipolar spectrum disorders AND prevalence OR cross-sectional OR epidemiology AND population-based OR non-clinical OR community based. The search yielded a total of 434 papers, but only those published in peer-reviewed journals and with samples aged ≥ 18 years were included, resulting in a final sample of 18 papers. Results revealed rather heterogeneous findings concerning the prevalence of bipolar disorders and bipolar spectrum disorders. Lifetime prevalence of bipolar disorder ranged from 0.1 to 7.5%, whereas lifetime prevalence of bipolar spectrum disorders ranged from 2.4 to 15.1%. Differences in the rates of bipolar disorder and bipolar spectrum disorders may be related to the consideration of subthreshold criteria upon diagnosis. Differences in the prevalence of different subtypes of the disorder are discussed in light of diagnostic criteria and instruments applied.

Neurocysticercosis: Imaging Findings in Computed Tomography. Review of Literature and Two Case Reports

International Nuclear Information System (INIS)

Alejandra Borbon Garzon; Alvaro Jose Perez; Veronica Pinto Schmidt

2008-01-01

Neurocysticercosis is a central nervous system parasitic infection caused by Taenia Solium whose clinical manifestations include seizures in 50-70% of patients, headache, intracranial hypertension and focal neurological deficits. Objective: To review the literature and to present imaging studies of two patients with the disease and classify its findings according to the pathologic stage. Methods: Review of literature and imaging of two patients with parenchymal neurocysticercosis using cranial computed tomography which showed cystic lesions at the gray-white junction associated with ring enhancement and some of them with surrounding edema; besides calcified granulomatous lesions. The documented findings represent the imaging spectrum of different parenchymal stages of neurocysticercosis. Conclusions: The cranial computed tomography is very helpful in diagnosis and monitoring neurocysticercosis.

Female urethral diverticulum presenting with acute urinary retention: Reporting the largest diverticulum with review of literature

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Manas Ranjan Pradhan

2012-01-01

Full Text Available Female urethral diverticulum is a rare entity with diverse spectrum of clinical manifestations. It is a very rare cause of bladder outlet obstruction and should be considered as a differential diagnosis in females presenting with acute urinary retention associated with a vaginal mass. Strong clinical suspicion combined with thorough physical examination and focused radiological investigations are vital for its diagnosis. Herein we report a case of giant urethral diverticulum presenting with acute urinary retention in a young female. It was managed by excision and urethral closure, and is the largest urethral diverticulum reported till date in the literature.

Epigenetics of Autism Spectrum Disorder.

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Siu, Michelle T; Weksberg, Rosanna

2017-01-01

Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development. In this chapter we aim to summarize some of the important literature that supports a role for epigenetics in the underlying molecular mechanism of ASD. We provide evidence from work in genetics, from environmental exposures and finally from more recent studies aimed at directly determining ASD-specific epigenetic patterns, focusing mainly on DNA methylation (DNAm). Finally, we briefly discuss some of the implications of current research on potential epigenetic targets for therapeutics and novel avenues for future work.

Leishmaniasis in travelers: a literature review.

Science.gov (United States)

Mansueto, Pasquale; Seidita, Aurelio; Vitale, Giustina; Cascio, Antonio

2014-01-01

Leishmaniasis is a vector-borne protozoan infection whose clinical spectrum ranges from asymptomatic infection to fatal visceral leishmaniasis. Over the last decades, an increase in imported leishmaniasis cases in developed, non-endemic countries, have been pointed-out from a review of the international literature. Among the possible causes are increasing international tourism, influx of immigrants from endemic regions and military operations. The main area for the acquisition of cutaneous leishmaniasis, especially for adventure travelers on long-term trips in highly-endemic forested areas, is represented from South America, whereas popular Mediterranean destinations are emerging as the main areas to acquire visceral variant. Leishmaniasis should be considered in the diagnostic assessment of patients presenting with a compatible clinical syndrome and a history of travel to an endemic area, even if this occurred several months or years before. Adventure travelers, researchers, military personnel, and other groups of travelers likely to be exposed to sand flies in endemic areas, should receive counseling regarding leishmaniasis and appropriate protective measures. Copyright © 2014 Elsevier Ltd. All rights reserved.

Clinical and molecular characteristics of extended-spectrum-β- lactamase-producing Escherichia coli causing bacteremia in the Rotterdam Area, Netherlands

NARCIS (Netherlands)

A.K. van der Bij (Akke); G. Peirano (G.); W.H.F. Goessens (Wil); E.R. van der Vorm (Eric); M. van Westreenen (Mireille); J.D.D. Pitout (J. D D)

2011-01-01

textabstractWe investigated the clinical and molecular characteristics of bacteremia caused by extended-spectrum-β-lactamase (ESBL)-producing Escherichia coli over a 2-year period (2008 to 2009) in the Rotterdam region (including 1 teaching hospital and 2 community hospitals) of Netherlands. The

International consensus diagnostic criteria for neuromyelitis optica spectrum disorders

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Banwell, Brenda; Bennett, Jeffrey L.; Cabre, Philippe; Carroll, William; Chitnis, Tanuja; de Seze, Jérôme; Fujihara, Kazuo; Greenberg, Benjamin; Jacob, Anu; Jarius, Sven; Lana-Peixoto, Marco; Levy, Michael; Simon, Jack H.; Tenembaum, Silvia; Traboulsee, Anthony L.; Waters, Patrick; Wellik, Kay E.

2015-01-01

Neuromyelitis optica (NMO) is an inflammatory CNS syndrome distinct from multiple sclerosis (MS) that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). Prior NMO diagnostic criteria required optic nerve and spinal cord involvement but more restricted or more extensive CNS involvement may occur. The International Panel for NMO Diagnosis (IPND) was convened to develop revised diagnostic criteria using systematic literature reviews and electronic surveys to facilitate consensus. The new nomenclature defines the unifying term NMO spectrum disorders (NMOSD), which is stratified further by serologic testing (NMOSD with or without AQP4-IgG). The core clinical characteristics required for patients with NMOSD with AQP4-IgG include clinical syndromes or MRI findings related to optic nerve, spinal cord, area postrema, other brainstem, diencephalic, or cerebral presentations. More stringent clinical criteria, with additional neuroimaging findings, are required for diagnosis of NMOSD without AQP4-IgG or when serologic testing is unavailable. The IPND also proposed validation strategies and achieved consensus on pediatric NMOSD diagnosis and the concepts of monophasic NMOSD and opticospinal MS. PMID:26092914

Priority setting in clinical nursing practice: literature review.

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Hendry, Charles; Walker, Anne

2004-08-01

Time is a valuable resource. When nurses experience demands on their services which exceed their available time, then 'rationing' must occur. In clinical practice such rationing requires practitioners to set priorities for care. The aim of this paper is establish what is currently known about priority setting in nursing, including how nurses set priorities and what factors influence this. CINAHL, Medline, ASSIA, and PsychLit databases for the years 1982-2002 were searched, using the terms (clinical decision-making or problem-solving or planning) and (setting priorities or prioriti*). The publications found were used in a selective, descriptive review. Priority setting is an important skill in nursing, and a skill deficit can have serious consequences for patients. Recent studies have suggested that it is a difficult skill for newly qualified nurses to acquire and may not be given sufficient attention in nurse education. Priority setting can be defined as the ordering of nursing problems using notions of urgency and/or importance, in order to establish a preferential order for nursing actions. A number of factors that may impact on priority setting have been identified in the literature. These include: the expertise of the nurse; the patient's condition; the availability of resources; ward organization; philosophies and models of care; the nurse-patient relationship; and the cognitive strategy used by the nurse to set priorities. However, very little empirical work has been conducted in this area. Further study of priority setting in a range of clinical practice settings is necessary. This could inform both practice and education, promote better use of limited resources and maximize patient outcomes.

Clinical Insights Into Foveal Morphology in Albinism.

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McCafferty, Brandon K; Wilk, Melissa A; McAllister, John T; Stepien, Kimberly E; Dubis, Adam M; Brilliant, Murray H; Anderson, Jennifer L; Carroll, Joseph; Summers, C Gail

2015-01-01

A hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum. Best-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images. The clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA. The spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation. Copyright 2015, SLACK Incorporated.

Key-feature questions for assessment of clinical reasoning: a literature review.

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Hrynchak, Patricia; Takahashi, Susan Glover; Nayer, Marla

2014-09-01

Key-feature questions (KFQs) have been developed to assess clinical reasoning skills. The purpose of this paper is to review the published evidence on the reliability and validity of KFQs to assess clinical reasoning. A literature review was conducted by searching MEDLINE (1946-2012) and EMBASE (1980-2012) via OVID and ERIC. The following search terms were used: key feature; question or test or tests or testing or tested or exam; assess or evaluation, and case-based or case-specific. Articles not in English were eliminated. The literature search resulted in 560 articles. Duplicates were eliminated, as were articles that were not relevant; nine articles that contained reliability or validity data remained. A review of the references and of citations of these articles resulted in an additional 12 articles to give a total of 21 for this review. Format, language and scoring of KFQ examinations have been studied and modified to maximise reliability. Internal consistency reliability has been reported as being between 0.49 and 0.95. Face and content validity have been shown to be moderate to high. Construct validity has been shown to be good using vector thinking processes and novice versus expert paradigms, and to discriminate between teaching methods. The very modest correlations between KFQ examinations and more general knowledge-based examinations point to differing roles for each. Importantly, the results of KFQ examinations have been shown to successfully predict future physician performance, including patient outcomes. Although it is inaccurate to conclude that any testing format is universally reliable or valid, published research supports the use of examinations using KFQs to assess clinical reasoning. The review identifies areas of further study, including all categories of evidence. Investigation into how examinations using KFQs integrate with other methods in a system of assessment is needed. © 2014 John Wiley & Sons Ltd.

Progression along the Bipolar Spectrum: A Longitudinal Study of Predictors of Conversion from Bipolar Spectrum Conditions to Bipolar I and II Disorders

Science.gov (United States)

Alloy, Lauren B.; Urošević, Snežana; Abramson, Lyn Y.; Jager-Hyman, Shari; Nusslock, Robin; Whitehouse, Wayne G.; Hogan, Michael

2011-01-01

Little longitudinal research has examined progression to more severe bipolar disorders in individuals with “soft” bipolar spectrum conditions. We examine rates and predictors of progression to bipolar I and II diagnoses in a non-patient sample of college-age participants (n = 201) with high General Behavior Inventory scores and childhood or adolescent onset of “soft” bipolar spectrum disorders followed longitudinally for 4.5 years from the Longitudinal Investigation of Bipolar Spectrum (LIBS) project. Of 57 individuals with initial cyclothymia or bipolar disorder not otherwise specified (BiNOS) diagnoses, 42.1% progressed to a bipolar II diagnosis and 10.5% progressed to a bipolar I diagnosis. Of 144 individuals with initial bipolar II diagnoses, 17.4% progressed to a bipolar I diagnosis. Consistent with hypotheses derived from the clinical literature and the Behavioral Approach System (BAS) model of bipolar disorder, and controlling for relevant variables (length of follow-up, initial depressive and hypomanic symptoms, treatment-seeking, and family history), high BAS sensitivity (especially BAS Fun Seeking) predicted a greater likelihood of progression to bipolar II disorder, whereas early age of onset and high impulsivity predicted a greater likelihood of progression to bipolar I (high BAS sensitivity and Fun-Seeking also predicted progression to bipolar I when family history was not controlled). The interaction of high BAS and high Behavioral Inhibition System (BIS) sensitivities also predicted greater likelihood of progression to bipolar I. We discuss implications of the findings for the bipolar spectrum concept, the BAS model of bipolar disorder, and early intervention efforts. PMID:21668080

WhatsApp in Clinical Practice: A Literature Review.

Science.gov (United States)

Mars, Maurice; Scott, Richard E

2016-01-01

Several spontaneous telemedicine services using WhatsApp Messenger have started in South Africa raising issues of confidentiality, data security and storage, record keeping and reporting. This study reviewed the literature on WhatsApp in clinical practice, to determine how it is used, and users' satisfaction. Pubmed, Scopus, Science Direct and IEE Expert databases were searched using the search term WhatsApp and Google Scholar using the terms WhatsApp Telemedicine and WhatsApp mHealth. Thirty-two papers covering 17 disciplines were relevant with the most papers, 12, from India. Seventeen papers reported the use of WhatsApp Groups within departments, 14 of which were surgery related disciplines. Groups improved communication and advice given on patient management. Confidentiality was mentioned in 19 papers and consent in five. Data security was partially addressed in 11 papers with little understanding of how data are transmitted and stored. Telemedicine services outside of departmental groups were reported in seven papers and covered emergency triage in maxillofacial, plastic, neuro and general surgery, and cardiology and telestroke. WhatsApp is seen to be a simple, cheap and effective means of communication within the clinical health sector and its use will grow. Users have paid little attention to confidentiality, consent and data security. Guidelines for using WhatsApp for telemedicine are required including downloading. WhatsApp messages to computer for integration with electronic medical records.

Education and training to support the use of clinical telehealth: A review of the literature.

Science.gov (United States)

Edirippulige, S; Armfield, N R

2017-02-01

Introduction Despite a growing literature base, substantial investment, and policy changes within governments, the integration of telehealth into routine clinical care has been limited. The availability of appropriate systematic education and training for practitioners has been highlighted as necessary for strong adoption. However, the availability and nature of telehealth-related education and training for practitioners is not understood. By reviewing the literature, we aimed to describe the delivery of education and training in telehealth, with particular focus on content, modes of delivery, types of institutions, and target clinician groups. Methods We performed searches using PubMed, Scopus, Embase, Web of Science, PsycINFO, the Cochrane Library, and ERIC. We included studies that were focused on the delivery of telehealth-related academic or vocational education and training. We extracted information pertaining to country, programs and their participants, and tabulated the results. Results Altogether 388 articles were identified, of which nine studies were selected for final review. Programs from five countries were represented and articles were spread across telemedicine and clinically oriented journals. Education and training in telehealth has been provided as both university level and vocational courses using conventional classroom based delivery methods and e-learning. Reported curriculum items included terminology, clinical applications, the evidence-base, and technological aspects. Conclusions Published evidence in peer-reviewed literature on telehealth education and training is limited. According to this review, a number of topics relating to telehealth have been covered by existing education programs both within tertiary and professional development levels.

The Spectrum of the Universe.

Science.gov (United States)

Hill, Ryley; Masui, Kiyoshi W; Scott, Douglas

2018-05-01

Cosmic background (CB) radiation, encompassing the sum of emission from all sources outside our own Milky Way galaxy across the entire electromagnetic spectrum, is a fundamental phenomenon in observational cosmology. Many experiments have been conceived to measure it (or its constituents) since the extragalactic Universe was first discovered; in addition to estimating the bulk (cosmic monopole) spectrum, directional variations have also been detected over a wide range of wavelengths. Here we gather the most recent of these measurements and discuss the current status of our understanding of the CB from radio to γ-ray energies. Using available data in the literature, we piece together the sky-averaged intensity spectrum and discuss the emission processes responsible for what is observed. We examine the effect of perturbations to the continuum spectrum from atomic and molecular line processes and comment on the detectability of these signals. We also discuss how one could, in principle, obtain a complete census of the CB by measuring the full spectrum of each spherical harmonic expansion coefficient. This set of spectra of multipole moments effectively encodes the entire statistical history of nuclear, atomic, and molecular processes in the Universe.

Neuromyelitis Optica and Neuromyelitis Optica Spectrum Disorder Patients in Turkish Cohort: Demographic, Clinical, and Laboratory Features.

Science.gov (United States)

Altintas, Ayse; Karabudak, Rana; Balci, Belgin P; Terzi, Murat; Soysal, Aysun; Saip, Sabahattin; Tuncer Kurne, Asli; Uygunoglu, Ugur; Nalbantoglu, Mecbure; Gozubatik Celik, Gokcen; Isik, Nihal; Celik, Yahya; Gokcay, Figen; Duman, Taskin; Boz, Cavit; Yucesan, Canan; Mangan, Mehmet Serhat; Celebisoy, Nese; Diker, Sevda; Colpak Isikay, Ilksen; Kansu, Tulay; Siva, Aksel

2015-10-01

Neuromyelitis optica (NMO) is an immune-mediated, chronic relapsing, inflammatory disease characterized by severe attacks of optic neuritis and myelitis. To determine the demographic, clinical, and laboratory features; antibody status; and treatment modalities of patients with NMO and neuromyelitis optica spectrum disorders in a Turkish cohort from 11 centers. A total of 182 patients were included in this study. Data on age at disease onset, sex, type of attacks, clinical presentation, analysis of cerebrospinal fluid, serum antiaquaporin-4 antibody status, annual progression index, and medical and family histories were collected. Mean age was 38.43±12.40 years (range, 13 to 75 y), and mean age at disease onset was 31.29±12.40 years (median, 29 y; range, 10 to 74 y). In NMO group, the rate of NMO immunoglobulin (Ig)G positivity was 62.5%. The annual progression index was significantly higher in the longitudinally extending spinal cord lesion. The mean Expanded Disability Status Scale score was higher in the late than early-onset NMO group. Our results revealed a lower rate of NMO IgG positivity, more severe disability in patients with NMO/neuromyelitis optica spectrum disorders presenting with either transverse myelitis or late-onset NMO, and no correlation between disability and NMO IgG status.

Clinical Application of the PES/WES Index on Natural Teeth: Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Alessandro Lanza

2017-01-01

Full Text Available The use of reliable indices to evaluate the aesthetic outcomes in the aesthetic area is an important and objective clinical aid to monitor the results over time. According to the literature various indices were proposed to evaluate aesthetic outcomes of implant-prosthetic rehabilitation of the anterior area like Peri-Implant and Crown Index [PICI], Implant Crown Aesthetic Index [ICAI], Pink Esthetic Score/White Esthetic Score [PES/WES], and Pink Esthetic Score [PES] but none of them was related to prosthetic rehabilitation on natural teeth. The aim of this study is to verify the validity of PES/WES index for natural tooth-prosthetic rehabilitation of the anterior area. As secondary objective, we proposed to evaluate the long-term predictability of this clinical application, one of which is presented below, following the analysis of the most currently accepted literature.

Information Literacy (IL) learning experiences: A literature review ...

African Journals Online (AJOL)

This paper is a review of extant literature on information literacy. The study reports literature on IL learning experiences in institutions across the globe. It also discusses the spectrum of literacy to give information literacy a context. Furthermore, the paper presents an overview of IL learning initiatives in academic ...

Parent Stress in a Randomized Clinical Trial of Atomoxetine and Parent Training for Children with Autism Spectrum Disorder

Science.gov (United States)

Lecavalier, Luc; Pan, Xueliang; Smith, Tristram; Handen, Benjamin L.; Arnold, L. Eugene; Silverman, Laura; Tumuluru, Rameshwari V.; Hollway, Jill; Aman, Michael G.

2018-01-01

We previously reported a 2 × 2 randomized clinical trial of atomoxetine (ATX) and parent training (PT) for attention deficit hyperactivity disorder (ADHD) symptoms and behavioral noncompliance in 128 children with autism spectrum disorder, ages 5-14 years. Children were randomized to one of four conditions: ATX alone, placebo alone, ATX + PT, or…

High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders

Directory of Open Access Journals (Sweden)

Merlin G. Butler

2015-03-01

Full Text Available Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD. The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.

Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder

OpenAIRE

Rutherford, Marion; McKenzie, K; Johnson, T; Catchpole, C; OHare, A; McClure, I; Forsyth, Kirsty; McCartney, Deborah; Murray, A

2016-01-01

This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred...

Adult Autism Subthreshold Spectrum (AdAS Spectrum) in parents of pediatric patients with epilepsy: Correlations with post-traumatic stress symptoms.

Science.gov (United States)

Dell'Osso, L; Corsi, M; Gesi, C; Bertelloni, C A; Massimetti, G; Peroni, D; Bonuccelli, A; Orsini, A; Carmassi, C

2018-05-01

Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one's child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample. Results revealed noteworthy correlations between post-traumatic stress symptoms and adult autism subthreshold spectrum (AdAS Spectrum) only in the subgroup of the fathers. In particular, were evidenced correlations between AdAS Spectrum domain of rumination and narrow interests and some TALS-SR nuclear domains: reaction to traumatic events, reexperiencing and arousal. These findings corroborate the hypothesis that subthreshold autistic features may influence the possible psychopathological reaction to trauma. Copyright © 2018 Elsevier Inc. All rights reserved.

Etiology, clinical spectrum and outcome of metabolic liver diseases in children

International Nuclear Information System (INIS)

Roy, A.; Samanta, T.; Purkait, R.; Mukherji, A.

2013-01-01

Objective: To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India. Study Design: An observational study. Place and Duration of Study: Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011. Methodology: All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months. Results: Fifty one children with mean age 4.34 +- 3.78 years (range 2 days +- 12 years), male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease (33.33%, n = 17); glycogen storage disorder (23.53%, n = 12); galactosemia (19.61%, n = 10); non-alcoholic fatty liver disease (11.76%, n = 6); Gaucher disease (5.88%, n = 3); mucopolysaccharidoses (3.92%, n = 2) and familial hyperlipoproteinemia type-I (1.96%, n = 1). Jaundice (n = 24) and hepatomegaly (n = 47), was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease (n = 7) cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis (p = 0.026). Conclusion: High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs. (author)

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Science.gov (United States)

Touzot, Fabien; Kermasson, Laetitia; Jullien, Laurent; Moshous, Despina; Ménard, Christelle; Ikincioğullari, Aydan; Doğu, Figen; Sari, Sinan; Giacobbi-Milet, Vannina; Etzioni, Amos; Soulier, Jean; Londono-Vallejo, Arturo; Fischer, Alain; Callebaut, Isabelle; de Villartay, Jean-Pierre; Leblanc, Thierry; Kannengiesser, Caroline; Revy, Patrick

2016-11-29

Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required for proper telomere replication and stability. In particular, it has been postulated that RTEL1 is involved in the opening of the T-loop during telomere replication to avoid sudden telomere deletion and telomere circle (T-circle) formation. In humans, biallelic RTEL1 mutations cause Hoyeraal-Hreidarsson syndrome (HH), a rare and severe telomere biology disorder characterized by intrauterine growth retardation, bone marrow failure, microcephaly and/or cerebellar hypoplasia, and immunodeficiency. To date, 18 different RTEL1 mutations have been described in 19 cases of HH with short telomeres. The impaired T-loop resolution has been proposed to be a major cause of telomere shortening in RTEL1 deficiency. However, the biological and clinical consequences of this disorder remain incompletely documented. Here, we describe 4 new patients harboring biallelic RTEL1 mutations, including 2 novel missense mutations located in the C-terminal end of RTEL1 (p.Cys1268Arg and p.Val1294Phe). Clinical characteristics from these 4 patients were collected as those from 4 other RTEL1-deficient patients previously reported. In addition, we assessed whether T-circles, the product of improper T-loop resolution, were detected in our RTEL1-deficient patients. Overall, our study broadens and refines the clinical and biological spectrum of human RTEL1 deficiency.

Animal-Assisted Intervention for Autism Spectrum Disorder: A Systematic Literature Review

Science.gov (United States)

O'Haire, Marguerite E.

2013-01-01

The inclusion of animals in therapeutic activities, known as animal-assisted intervention (AAI), has been suggested as a treatment practice for autism spectrum disorder (ASD). This paper presents a systematic review of the empirical research on AAI for ASD. Fourteen studies published in peer-reviewed journals qualified for inclusion. The…

Disseminated cysticercosis: clinical spectrum, Toll-like receptor-4 gene polymorphisms and role of albendazole

Science.gov (United States)

Qavi, Abdul; Garg, Ravindra Kumar; Malhotra, Hardeep Singh; Jain, Amita; Kumar, Neeraj; Malhotra, Kiran Preet; Srivastava, Pradeep Kumar; Verma, Rajesh; Sharma, Praveen Kumar

2016-01-01

Abstract In this study, we describe clinical and imaging spectrum, and the natural course of patients with disseminated cysticercosis. How albendazole affects the course of disease has also been evaluated. We assessed the Toll-like receptor-4 gene polymorphisms, to know the reason for the apparently higher prevalence of disseminated cysticercosis in India. Sixty consecutive patients with disseminated cysticercosis were enrolled. Sixty age-and-sex-matched healthy controls were also enrolled for the purpose of genetic study. Twenty patients, who gave consent, were treated with albendazole along with corticosteroids. Forty patients did not give consent for antiparasitic therapy. Assessment for Toll-like receptor-4 gene polymorphisms (Asp299Gly and Thr399Ile genes) was done. Patients were followed for 6 months. We also performed a literature search of cases published in English language using PubMed electronic database and analyzed 56 cases thus available. There was an increased risk (6.63 fold and 4.61 fold) of disseminated cysticercosis in the presence of Asp299Gly and Thr399Ile polymorphisms in Toll-like receptor-4, respectively. The allelic frequency of Gly (11% vs. 3%, P = 0.024, odds ratio [OR] = 3.52) and Ile alleles (11% vs. 2%, P = 0.009, OR = 4.738) in disseminated cysticercosis was high. Albendazole resulted in complete disappearance of all cerebral lesions in 35% (7/20) patients and reduction in lesion load in remaining 65% (13/20) patients. No significant change in number of cysticercal lesion was noted in patients who did not receive albendazole. No major adverse reaction following antiparasitic treatment was noted. Three deaths were recorded in patients who did not receive antiparasitic treatment. Of the 56 cases reported in PubMed, 33 patients received antiparasitic treatment with follow-up data available for 31 patients. Most (24) of these patients received albendazole. A significant clinical and/or imaging improvements, on follow up, were observed in

Use of Advanced Magnetic Resonance Imaging Techniques in Neuromyelitis Optica Spectrum Disorder

DEFF Research Database (Denmark)

Kremer, S.; Renard, F.; Achard, S.

2015-01-01

Brain parenchymal lesions are frequently observed on conventional magnetic resonance imaging (MRI) scans of patients with neuromyelitis optica (NMO) spectrum disorder but the specific morphological and temporal patterns distinguishing them uneqtaivcally from lesions caused by other disorders have...... not been identified. This literature review summarizes the literature on advanced quantitative imaging measures reported for patients with NMO spectrum disorder, including proton MR spectroscopy, diffusion tensor imaging, magnetization transfer imaging, quantitative MR voltametry, and ultrahigh...... diffusion-weighted imaging and brain tissue volumetry indicate greater white matter than gray matter degradation. These findings could be confirmed by ultrahigh-field MRI. The use of nonconventional MR I techniques may further our understanding of the pathogenic processes hi NMO spectrum disorders and may...

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations

International Nuclear Information System (INIS)

Mir, Muhammad A; Kochuparambil, Samith T; Abraham, Roshini S; Rodriguez, Vilmarie; Howard, Matthew; Hsu, Amy P; Jackson, Amie E; Holland, Steven M; Patnaik, Mrinal M

2015-01-01

Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature

Pediatric obesity pharmacotherapy: current state of the field, review of the literature and clinical trial considerations.

Science.gov (United States)

Kelly, A S; Fox, C K; Rudser, K D; Gross, A C; Ryder, J R

2016-07-01

Despite the increasing number of medications recently approved to treat obesity among adults, few agents have been formally evaluated in children or adolescents for this indication. Moreover, there is a paucity of guidance in the literature addressing best practices with regard to pediatric obesity pharmacotherapy clinical trial design, and only general recommendations have been offered by regulatory agencies on this topic. The purposes of this article are to (1) offer a background of the current state of the field of pediatric obesity medicine, (2) provide a brief review of the literature summarizing pediatric obesity pharmacotherapy clinical trials, and (3) highlight and discuss some of the unique aspects that should be considered when designing and conducting high-quality clinical trials evaluating the safety and efficacy of obesity medications in children and adolescents. Suggestions are offered in the areas of target population and eligibility criteria, clinical trial end-point selection, trial duration, implementation of lifestyle modification therapy and recruitment and retention of participants. Efforts should be made to design and conduct trials appropriately to ensure that high-quality evidence is generated on the safety and efficacy of various medications used to treat pediatric obesity.

The Clinical Aspects of Mirror Therapy in Rehabilitation: A Systematic Review of the Literature

Science.gov (United States)

Rothgangel, Andreas Stefan; Braun, Susy M.; Beurskens, Anna J.; Seitz, Rudiger J.; Wade, Derick T.

2011-01-01

The objective of this study was to evaluate the clinical aspects of mirror therapy (MT) interventions after stroke, phantom limb pain and complex regional pain syndrome. A systematic literature search of the Cochrane Database of controlled trials, PubMed/MEDLINE, CINAHL, EMBASE, PsycINFO, PEDro, RehabTrials and Rehadat, was made by two…

Espectro clínico de tuberculosis cutánea Clinic spectrum of cutaneous tuberculosis

Directory of Open Access Journals (Sweden)

G Pizzariello

2008-09-01

Full Text Available La Tuberculosis (TBC es producida por el Mycobacterium tuberculosis o bacilo de Koch, y se ha observado en las últimas décadas, una reemergencia de casos pulmonares y extrapulmonares. La TBC cutánea es infrecuente, y presenta un amplio espectro clínico dependiendo del interjuego existente entre el agente, el huésped y el ambiente. TBC cutánea, ilustrándola con casos clínicos de pacientes que concurrieron a nuestro servicio.Tuberculosis (TBC is caused by Mycobacterium tuberculosis or Koch's bacillus, and there was a re-emergence of pulmonary and extrapulmonary cases in the last decades. Cutaneous TBC is uncommon, there is a broad clinical spectrum and an interrelationship between the agent, the guest and the environment. A description of each form of cutaneous TBC was made, illustrating it with clinical cases of patients who were attended in our service.

Clinical characteristics of disabling attacks at onset in patients with neuromyelitis optica spectrum disorder.

Science.gov (United States)

Seok, Jin Myoung; Cho, Eun Bin; Lee, Hye Lim; Cho, Hye-Jin; Min, Ju-Hong; Lee, Kwang Ho; Kim, Byoung Joon

2016-09-15

Individual attacks of neuromyelitis optica (NMO) are generally severe enough to cause disability even after the onset attack. We aimed to elucidate the clinical characteristics of disabling attacks at the onset of NMO. We investigated the clinical characteristics at onset and at first relapse in patients with NMO or NMO spectrum disorder with seropositive for the anti-aquaporin-4 antibody. A disabling attack at onset (DAO) was defined as an onset attack in which, at best recovery (allowing up to one year), patients were unable to walk without assistance or were left functionally blind in at least one affected eye. Fifty-seven patients were enrolled (53 females; onset age, 41.9±14.8years). Ten patients (17.5%) had a DAO; four had become unable to walk without assistance following myelitis, and six had severe visual impairment following optic neuritis despite rescue treatments. Attack severity at nadir was the only clinical factor predicting a DAO (odds ratio, 2.120; 95% CI, 1.162-3.869; P=0.014). The use of immunosuppressants delayed the interval to the first relapse (P=0.003). Our study showed characteristics of NMO onset attacks that caused severe disability. However, no clinically modifiable factors predicted disabling attacks, except attack severity. Copyright © 2016 Elsevier B.V. All rights reserved.

Critical reading and critical thinking--study design and methodology: a personal approach on how to read the clinical literature.

Science.gov (United States)

Lipman, Timothy O

2013-04-01

The volume of medical literature grows exponentially. Yet we are faced with the necessity to make clinical decisions based on the availability and quality of scientific information. The general strength (reliability, robustness) of any interpretation that guides us in clinical decision making is dependent on how information was obtained. All information and medical studies and, consequently, all conclusions are not created equal. It is incumbent upon us to be able to assess the quality of the information that guides us in the care of our patients. Being able to assess medical literature critically requires use of critical reading and critical thinking skills. To achieve these skills, to be able to analyze medical literature critically, takes a combination of education and practice, practice, and more practice.

Student perceptions of a quality clinical experience: findings from the literature and their application to radiation therapy

International Nuclear Information System (INIS)

Fenton, Paul

2005-01-01

This paper seeks to provide a review of research findings into the clinical experience from the perception of students, with the aim of improving the clinical placements of radiation therapy students. Drawing on evidence from other allied health professions, the attributes of the ideal supervisor perceived by students is presented. The effect of clinical environment, departmental culture and communication with universities on student perception is also discussed. The lack of literature on radiation therapy education in the clinical setting has been highlighted and may be remedied in the future with the appointment of research radiation therapists. There is an ongoing need for the universities to assist radiation therapists in maintaining their skills in the supervision of students, perhaps through the provision of workshops and seminars. The list of attributes of the ideal supervisor extracted from the literature is extensive. It is an unrealistic expectation for a person to possess all of the characteristics, however the challenge is for supervisors to develop and exhibit as many as possible. Copyright (2005) Australian Institute of Radiography

Oculoauriculovertebral spectrum and cerebral anomalies

NARCIS (Netherlands)

Schrander-Stumpel, C. T.; de Die-Smulders, C. E.; Hennekam, R. C.; Fryns, J. P.; Bouckaert, P. X.; Brouwer, O. F.; da Costa, J. J.; Lommen, E. J.; Maaswinkel-Mooy, P. D.

1992-01-01

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases

[Autism Spectrum Disorder in DSM-5 - concept, validity, and reliability, impact on clinical care and future research].

Science.gov (United States)

Freitag, Christine M

2014-05-01

Autism Spectrum Disorder (ASD) in DSM-5 comprises the former DSM-IV-TR diagnoses of Autistic Disorder, Asperger's Disorder and PDD-nos. The criteria for ASD in DSM-5 were considerably revised from those of ICD-10 and DSM-IV-TR. The present article compares the diagnostic criteria, presents studies on the validity and reliability of ASD, and discusses open questions. It ends with a clinical and research perspective.

Health Related Quality of Life in Children with Autism Spectrum Disorders: The Clinical and Demographic Related Factors in Turkey

Science.gov (United States)

Kose, Sezen; Erermis, Serpil; Ozturk, Onder; Ozbaran, Burcu; Demiral, Nagehan; Bildik, Tezan; Aydin, Cahide

2013-01-01

We aimed to investigate the Health Related Quality of Life and related clinical variables (HRQoL) of children with Autism Spectrum Disorders (ASD). We included 102 children with ASD (46 with autism, 38 with pervasive developmental disorder not otherwise specified (PDD-NOS) and 18 with Asperger's syndrome (AS)) and 39 typically developing children…

Serum Cytokine Responses over the Entire Clinical-Immunological Spectrum of Human Leishmania (L. infantum chagasi Infection

Directory of Open Access Journals (Sweden)

Patrícia Karla Ramos

2016-01-01

Full Text Available The clinical-immunological spectrum of human Leishmania (L. infantum chagasi infection in Amazonian Brazil was recently reviewed based on clinical, DTH, and IFAT (IgG evaluations that identified five profiles: three asymptomatic (asymptomatic infection, AI; subclinical resistant infection, SRI; and indeterminate initial infection, III and two symptomatic (symptomatic infection, SI; American visceral leishmaniasis, AVL; and subclinical oligosymptomatic infection, SOI. TNF-α, IL-4, IL-6, and IL-10 serum cytokines were analyzed using multiplexed Cytometric Bead Array in 161 samples from endemic areas in the Brazilian Amazon: SI [AVL] (21 cases, III (49, SRI (19, SOI (12, AI (36, and a control group [CG] (24. The highest IL-6 serum levels were observed in the SI profile (AVL; higher IL-10 serum levels were observed in SI than in SOI or CG and in AI and III than in SOI; higher TNF-α serum levels were seen in SI than in CG. Positive correlations were found between IL-6 and IL-10 serum levels in the SI and III profiles and between IL-6 and TNF-α and between IL-4 and TNF-α in the III profile. These results provide strong evidence for associating IL-6 and IL-10 with the immunopathogenesis of AVL and help clarify the role of these cytokines in the infection spectrum.

Ameloblastic fibro-odontoma in children. Clinical aspects and review of the literature

Directory of Open Access Journals (Sweden)

Marcello Augello

2017-06-01

Full Text Available The ameloblastic fibro-odontoma (AFO is a rare mixed odontogenic tumor. Clinically AFO presents as a hamartoma or immature odontoma. The AFO is a well-encapsulated, painless, slow-growing and expanding tumor in young patients. Histologically, it has been classified as an ameloblastic fibroma or odontoma. Despite numerous efforts, there is still considerable confusion concerning the nature, the histology and the surgical therapy of this lesion. However, it can present with progressive growth causing bone destruction and significant deformity. The transformation of AFO in sarcoma is also known and extremely rare. Therefore a long term follow up is recommended. Enucleation still remains the gold standard. We are discussing our experience with AFO focused on children in clinical and surgical features and reviewing the relevant literature.

A retrospective study of toddlers with autism spectrum disorder: Clinical and developmental profile

Directory of Open Access Journals (Sweden)

Prahbhjot Malhi

2014-01-01

Full Text Available Objective: To retrospectively examine the developmental and clinical characteristics of children with autism spectrum disorders (ASD in the first 2 years of life in order to narrow the interval between parental concern and getting a reliable diagnosis of autism. Materials and Methods: The case records of 21 children in whom a diagnosis of ASD was made in the first 2 years of life and confirmed 6 months to 1 year later were examined. The inclusion criterion was absence of neurological, metabolic, or genetic disorders and sensory or motor impairments. These case records were maintained in the Pediatric Psychology Clinic at the Department of Pediatrics of a tertiary care teaching hospital in North India. Results: The average age at presentation to the clinic was 21.23 months (SD = 2.18. The clinical characteristics that were found in two-thirds or more children included lack of speech, inability to follow verbal commands, lack of pretend play, no index finger pointing, difficulty in playing with toys in a constructive manner, lack of joint attention, and motor stereotypies. The mean IQ was 66.62 (SD = 15.11 and the mean SQ as measured by the Vineland Social Maturity Scale was 80.43 (SD = 17.45. Conclusions: Given the validity of early diagnosis over time, clinicians should be encouraged not only to make an early diagnosis but also to initiate early interventions in children with ASD.

[Autism spectrum disorder and suicidality].

Science.gov (United States)

Huguet, G; Contejean, Y; Doyen, C

2015-09-01

Most studies on suicide exclude subjects with autism spectrum disorders, yet there is a risk group. The purpose of this article is to present the data in the literature regarding the clinical and epidemiological characteristics of suicidality in subjects with autism spectrum disorders and to identify the factors that promote the transition to action. This review was carried out using the data set collected in Medline PubMed, items with "autism spectrum disorder", "pervasive developmental disorder", "Asperger's syndrome", "suicide", "suicide attempt", and "suicide behavior". In all subjects from our research on PubMed, 21.3% of subjects with autism spectrum disorder reported suicidal ideation, have attempted suicide or died by suicide (115 out of 539 subjects) and 7.7% of subjects supported for suicidal thoughts or attempted suicide exhibited an autism spectrum disorder (62 out of 806 subjects), all ages combined. Suicidal ideation and morbid preoccupation are particularly common in adolescents and young adults. Suicide attempts are accompanied by a willingness for death and can lead to suicide. They are more common in high-functioning autism and Asperger subjects. The methods used are often violent and potentially lethal or fatal in two cases published. Suicide risk depends on many factors that highlight the vulnerability of these subjects, following autistic and developmental symptoms. Vulnerability complicating the diagnosis of comorbid depressive and anxiety disorders are major factors associated with suicidality. Vulnerability but also directly related to suicidality, since the origin of physical and sexual abuse and victimization by peers assigning them the role of "scapegoat" are both responsible for acting out. Given the diversity of factors involved in the risk of suicide in this population, this does not validate "a" program of intervention, but the intervention of "customized programs". Their implementation should be as early as possible in order to treat

Overlap of autistic and schizotypal traits in adolescents with Autism Spectrum Disorders.

Science.gov (United States)

Barneveld, Petra S; Pieterse, Jolijn; de Sonneville, Leo; van Rijn, Sophie; Lahuis, Bertine; van Engeland, Herman; Swaab, Hanna

2011-03-01

This study addresses the unraveling of the relationship between autism spectrum and schizophrenia spectrum traits in a population of adolescents with Autism Spectrum Disorders (ASD). Recent studies comparing isolated symptoms of both spectrum disorders as well as diagnostic criteria for each (DSM-IV-TR) suggest resemblances in the clinical phenotype. A group of 27 adolescents with ASD (11 to 18 years) and 30 typically developing adolescents, matched for age and gender, participated in this study. Within the ASD group 11 adolescents satisfied DSM-IV-TR criteria for schizotypal personality disorders. Autistic and schizotypal traits were identified by means of well validated questionnaires (Autism Questionnaire, AQ and Schizotypal Personality Questionnaire-Revised, SPQ). Significantly more schizotypal traits in adolescents with ASD were found than in typically developing controls. Besides high levels of negative symptoms, adolescents with ASD also displayed high levels of positive and disorganized symptoms. There appeared to be a relationship between the mean level of autistic symptoms and schizotypal traits, as well as specific associations between autistic symptoms and negative, disorganized and positive schizotypal symptoms within individuals. Schizotypal symptomatology in all sub dimensions that are reflected by the SPQ scores, was most prominently associated with attention switching problems of the autism symptoms from the AQ. These findings indicate that patients diagnosed with an ASD show schizophrenia spectrum traits in adolescence. Although other studies have provided empirical support for this overlap in diagnostic criteria between both spectrum disorders, the present findings add to the literature that behavioral overlap is not limited to negative schizotypal symptoms, but extends to disorganized and positive symptoms as well. Copyright © 2010 Elsevier B.V. All rights reserved.

Clinical Genetic Aspects of ASD Spectrum Disorders

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G. Bradley Schaefer

2016-01-01

Full Text Available Early presumptions opined that autism spectrum disorder (ASD was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable are likely to be associated with the currently unidentifiable cases. Today, the “Why” is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in “personalized medicine”, identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.

Mobile health clinics in the era of reform.

Science.gov (United States)

Hill, Caterina F; Powers, Brian W; Jain, Sachin H; Bennet, Jennifer; Vavasis, Anthony; Oriol, Nancy E

2014-03-01

Despite the role of mobile clinics in delivering care to the full spectrum of at-risk populations, the collective impact of mobile clinics has never been assessed. This study characterizes the scope of the mobile clinic sector and its impact on access, costs, and quality. It explores the role of mobile clinics in the era of delivery reform and expanded insurance coverage. A synthesis of observational data collected through Mobile Health Map and published literature related to mobile clinics. Analysis of data from the Mobile Health Map Project, an online platform that aggregates data on mobile health clinics in the United States, supplemented by a comprehensive literature review. Mobile clinics represent an integral component of the healthcare system that serves vulnerable populations and promotes high-quality care at low cost. There are an estimated 1500 mobile clinics receiving 5 million visits nationwide per year. Mobile clinics improve access for vulnerable populations, bolster prevention and chronic disease management, and reduce costs. Expanded coverage and delivery reform increase opportunities for mobile clinics to partner with hospitals, health systems, and insurers to improve care and lower costs. Mobile clinics have a critical role to play in providing high-quality, low-cost care to vulnerable populations. The postreform environment, with increasing accountability for population health management and expanded access among historically underserved populations, should strengthen the ability for mobile clinics to partner with hospitals, health systems, and payers to improve care and lower costs.

Clinical spectrum of Castleman disease-associated neuropathy.

Science.gov (United States)

Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay; Mauermann, Michelle L

2016-12-06

To define the peripheral neuropathy phenotypes associated with Castleman disease. We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. © 2016 American Academy of Neurology.

Clinical spectrum of Castleman disease–associated neuropathy

Science.gov (United States)

Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay

2016-01-01

Objective: To define the peripheral neuropathy phenotypes associated with Castleman disease. Methods: We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. Results: There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. Conclusion: There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. PMID:27807187

Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency

DEFF Research Database (Denmark)

Bay, Jakob Thaning; Katzenstein, Terese Lea; Kofoed, Kristian

2015-01-01

presentation of Factor I deficiency varies and includes severe recurrent bacterial infections, glomerulonephritis and autoimmune diseases. The patient, a 28-years old woman with consanguineous parents, presented with recurrent leukocytoclastic vasculitis in the lower extremities with no associated systemic...... mutations vary among patients sole association with leukocytoclastic vasculitis redefines the clinical spectrum of complete Factor I deficiency....

A survey of Korean medicine doctors' clinical practice patterns for autism spectrum disorder: preliminary research for clinical practice guidelines.

Science.gov (United States)

Lee, Jihong; Lee, Sun Haeng; Lee, Boram; Yang, In Jun; Chang, Gyu Tae

2018-03-13

The aim of this study was to investigate autism spectrum disorder (ASD) clinical practice patterns of Korean medicine doctors (KMDs) through questionnaire survey. Questionnaires on Korean medicine (KM) treatment for ASD were distributed to 255 KMDs on December 5, 2016. The KMDs were psychiatrists, pediatricians, or general practitioners, who treated patients with ASD. The questionnaire covered items on treatment methods, aims of treatment, KM syndrome differentiation, diagnostic tools, and sociodemographic characteristics. Frequency analysis was conducted to describe the participants and their practices. A total 22.4% KMDs (n = 57/255) completed the questionnaires and 54 KMDs (21.2%) matched the inclusion criteria. The KMDs utilized herbal medicine (27.3%), body acupuncture (17.6%), scalp acupuncture (10.7%), moxibustion (6.4%), and Korean medical psychotherapy (5.9%) to treat ASD. The most commonly prescribed herbal medicine was Yukmijihwang-tang. Forty-eight (88.9%) KMDs responded that they used KM syndrome differentiation. 'Organ system, Qi, Blood, Yin, Yang, Fluid and Humor diagnosis' was most frequently used for syndrome differentiation. ASD was mainly diagnosed based on the fourth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV) and DSM-5. The present study demonstrated the current status of KMDs' diagnosis and treatment of ASD. In future clinical trials and clinical practice guidelines, these findings will provide meaningful information on the actual practice patterns of KMDs.

Epigenetic mechanisms: A possible link between autism spectrum disorders and fetal alcohol spectrum disorders.

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Varadinova, Miroslava; Boyadjieva, Nadka

2015-12-01

The etiology of autism spectrum disorders (ASDs) still remains unclear and seems to involve a considerable overlap between polygenic, epigenetic and environmental factors. We have summarized the current understanding of the interplay between gene expression dysregulation via epigenetic modifications and the potential epigenetic impact of environmental factors in neurodevelopmental deficits. Furthermore, we discuss the scientific controversies of the relationship between prenatal exposure to alcohol and alcohol-induced epigenetic dysregulations, and gene expression alterations which are associated with disrupted neural plasticity and causal pathways for ASDs. The review of the literature suggests that a better understanding of developmental epigenetics should contribute to furthering our comprehension of the etiology and pathogenesis of ASDs and fetal alcohol spectrum disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders

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Kim, Ki Chan; Gonzales, Edson Luck; Lázaro, María T.; Choi, Chang Soon; Bahn, Geon Ho; Yoo, Hee Jeong; Shin, Chan Young

2016-01-01

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance. PMID:27133257

Toward an Interdisciplinary Understanding of Sensory Dysfunction in Autism Spectrum Disorder: An Integration of the Neural and Symptom Literatures.

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Schauder, Kimberly B; Bennetto, Loisa

2016-01-01

Sensory processing differences have long been associated with autism spectrum disorder (ASD), and they have recently been added to the diagnostic criteria for the disorder. The focus on sensory processing in ASD research has increased substantially in the last decade. This research has been approached from two different perspectives: the first focuses on characterizing the symptoms that manifest in response to real world sensory stimulation, and the second focuses on the neural pathways and mechanisms underlying sensory processing. The purpose of this paper is to integrate the empirical literature on sensory processing in ASD from the last decade, including both studies characterizing sensory symptoms and those that investigate neural response to sensory stimuli. We begin with a discussion of definitions to clarify some of the inconsistencies in terminology that currently exist in the field. Next, the sensory symptoms literature is reviewed with a particular focus on developmental considerations and the relationship of sensory symptoms to other core features of the disorder. Then, the neuroscience literature is reviewed with a focus on methodological approaches and specific sensory modalities. Currently, these sensory symptoms and neuroscience perspectives are largely developing independently from each other leading to multiple, but separate, theories and methods, thus creating a multidisciplinary approach to sensory processing in ASD. In order to progress our understanding of sensory processing in ASD, it is now critical to integrate these two research perspectives and move toward an interdisciplinary approach. This will inevitably aid in a better understanding of the underlying biological basis of these symptoms and help realize the translational value through its application to early identification and treatment. The review ends with specific recommendations for future research to help bridge these two research perspectives in order to advance our understanding

Spontaneous regression of cerebral arteriovenous malformations: clinical and angiographic analysis with review of the literature

International Nuclear Information System (INIS)

Lee, S.K.; Vilela, P.; Willinsky, R.; TerBrugge, K.G.

2002-01-01

Spontaneous regression of cerebral arteriovenous malformation (AVM) is rare and poorly understood. We reviewed the clinical and angiographic findings in patients who had spontaneous regression of cerebral AVMs to determine whether common features were present. The clinical and angiographic findings of four cases from our series and 29 cases from the literature were retrospectively reviewed. The clinical and angiographic features analyzed were: age at diagnosis, initial presentation, venous drainage pattern, number of draining veins, location of the AVM, number of arterial feeders, clinical events during the interval period to thrombosis, and interval period to spontaneous thrombosis. Common clinical and angiographic features of spontaneous regression of cerebral AVMs are: intracranial hemorrhage as an initial presentation, small AVMs, and a single draining vein. Spontaneous regression of cerebral AVMs can not be predicted by clinical or angiographic features, therefore it should not be considered as an option in cerebral AVM management, despite its proven occurrence. (orig.)

Neurobrucellosis: three case reports and literature review

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WANG Jia-wei

2013-01-01

Full Text Available Background Brucellosis is a multisystem disease which may present with a broad spectrum of clinical manifestations and complications. Neurobrucellosis is an uncommon complication of this infection. This article aims to present clinical manifestations and to discuss the clinical features and management of 3 neurobrucellosis cases. Methods The diagnosis, treatment, laboratory results and accessory examination findings of 3 patients with neurobrucellosis between August 2010 and March 2012 were retrospectively analyzed, and relevant literature was reviewed. Results All the 3 cases had definite history of exposure to epidemic areas or infectious diseases, and history of being infected with Brucella by drinking raw milk. During the screening because of fever for reasons unknown, they were proved to be infected with Brucella by etiological or serological tests. Initial clinical manifestations consisted of fever and headache, with meningitis symptoms and signs, spondylitis, uroschesis and constipation (which might be caused by lumbosacral nerve root lesion, or neurological manifestations in auditory nerve and abducent nerve, such as hearing loss and diplopia. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Conclusion Neurobrucellosis presents with various clinical signs and symptoms, and is often accompanied by systemic infection. Brucellosis should be kept in mind during the screening of fever for reasons unknown, and be differentiated from Mycobacterium tuberculosis infection. The combined treatment by antibotics of different pharmacological mechanisms with full dose and long range is effective, and the prognosis is favorable.

Information and image integration: project spectrum

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Blaine, G. James; Jost, R. Gilbert; Martin, Lori; Weiss, David A.; Lehmann, Ron; Fritz, Kevin

1998-07-01

The BJC Health System (BJC) and the Washington University School of Medicine (WUSM) formed a technology alliance with industry collaborators to develop and implement an integrated, advanced clinical information system. The industry collaborators include IBM, Kodak, SBC and Motorola. The activity, called Project Spectrum, provides an integrated clinical repository for the multiple hospital facilities of the BJC. The BJC System consists of 12 acute care hospitals serving over one million patients in Missouri and Illinois. An interface engine manages transactions from each of the hospital information systems, lab systems and radiology information systems. Data is normalized to provide a consistent view for the primary care physician. Access to the clinical repository is supported by web-based server/browser technology which delivers patient data to the physician's desktop. An HL7 based messaging system coordinates the acquisition and management of radiological image data and sends image keys to the clinical data repository. Access to the clinical chart browser currently provides radiology reports, laboratory data, vital signs and transcribed medical reports. A chart metaphor provides tabs for the selection of the clinical record for review. Activation of the radiology tab facilitates a standardized view of radiology reports and provides an icon used to initiate retrieval of available radiology images. The selection of the image icon spawns an image browser plug-in and utilizes the image key from the clinical repository to access the image server for the requested image data. The Spectrum system is collecting clinical data from five hospital systems and imaging data from two hospitals. Domain specific radiology imaging systems support the acquisition and primary interpretation of radiology exams. The spectrum clinical workstations are deployed to over 200 sites utilizing local area networks and ISDN connectivity.

Does transcutaneous electrical nerve stimulation (TENS have a clinically relevant analgesic effect on different pain conditions? A literature review

Directory of Open Access Journals (Sweden)

Asami Naka

2013-07-01

Full Text Available Transcutaneous electric nerve stimulation (TENS is a standard therapy used in different painful conditions such as low back pain, diabetic polyneuropathy or arthrosis. However, literature reviews focusing on the effects and the clinical implication of this method in various painful conditions are yet scarce. The purpose of this literature research was to determine, whether TENS provides an analgesic effect on common painful conditions in clinical practice. Literature research was performed using three data bases (Pubmed, Embase, Cochrane Database, focusing on papers published in the space of time from 2007 to 2012. Papers were evaluated from two reviewers independently concerning the clinical outcome, taking account for the level of external evidence according to the German Cochrane levels of evidence (Ia – IV. 133 papers of varying methodological quality dealing with different painful conditions were selected in total. A clinically relevant analgesic effect was described in 90 painful conditions (67%. In 30 painful states (22%, the outcome was inconclusive due to the study design. No significant analgesic effect of TENS was observed in 15 painful conditions (11%. The vast majority of the papers were classified as Cochrane evidence level Ib (n = 64; 48%, followed by level Ia (n = 23; 17%, level III (n = 18; 14%, level IV (n = 15; 11%, level IIb (n = 10; 8% and level IIa (n = 3; 2%. Most of the studies revealed an analgesic effect in various painful conditions, confirming the usefulness of TENS in clinical practice.

Modifiable influences on female HPV vaccine uptake at the clinic encounter level: a literature review.

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Small, Stephanie L; Sampselle, Carolyn M; Martyn, Kristy K; Dempsey, Amanda F

2014-09-01

A review of the literature to identify modifiable influences on female human papillomavirus (HPV) vaccine uptake relevant to clinical practice in order to support nurse practitioners (NPs) in the prevention of cervical cancer. PubMed, CINAHL, reference lists of publications that surfaced in the electronic search. Six influences are modifiable and potentially amenable to being addressed at the clinic encounter level: (a) cost and insurance coverage, (b) provider recommendation, (c) vaccination opportunity, (d) HPV and HPV vaccine knowledge, (e) vaccine safety concerns, and (f) HPV risk. NPs have an important role in improving HPV vaccine uptake and research suggests several areas they can address to increase vaccination during clinic visits. ©2013 American Association of Nurse Practitioners.

Immunoglobulin G4 -related kidney disease: A comprehensive pictorial review of the imaging spectrum, Mimickers, and clinicopathological characteristics

International Nuclear Information System (INIS)

Seo, Ni Eun; Kim, Jin Hee; Byun, Jae Ho; Lee, Seung Soo; Kim, Hyoung Jung; Lee, Moon Gyu

2015-01-01

Immunoglobulin G4 (IgG4)-related kidney disease (IgG4-KD) has recently been demonstrated to be an important part of IgG4-related sclerosing disease (IgG4-SD). However, since IgG4-KD is still relatively unfamiliar to radiologists and physicians as compared to IgG4-SD involving other organs, it could, therefore, be easily missed. In this article, we present a comprehensive pictorial review of IgG4-KD with regards to the imaging spectrum, mimickers, and clinicopathologic characteristics, based on our clinical experience with 48 patients during the past 13 years, as well as a literature review. Awareness of the broad imaging spectrum of IgG4-KD and differential diagnosis from its mimickers will thus facilitate its early diagnosis and treatment

Optimizing participation of children with autism spectrum disorder experiencing sensory challenges: a clinical reasoning framework.

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Ashburner, Jill K; Rodger, Sylvia A; Ziviani, Jenny M; Hinder, Elizabeth A

2014-02-01

Remedial sensory interventions currently lack supportive evidence and can be challenging to implement for families and clinicians. It may be timely to shift the focus to optimizing participation of children with autism spectrum disorders (ASD) through accommodation and self-regulation of their sensory differences. A framework to guide practitioners in selecting strategies is proposed based on clinical reasoning considerations, including (a) research evidence, (b) client- and family-centredness, (c) practice contexts, (d) occupation-centredness, and (e) risks. Information-sharing with families and coaching constitute the basis for intervention. Specific strategies are identified where sensory aversions or seeking behaviours, challenges with modulation of arousal, or sensory-related behaviours interfere with participation. Self-regulatory strategies are advocated. The application of universal design principles to shared environments is also recommended. The implications of this framework for future research, education, and practice are discussed. The clinical utility of the framework now needs to be tested.

Temporomandibular joint disorder in a patient with multiple sclerosis--review of literature with a clinical report.

Science.gov (United States)

Badel, Tomislav; Carek, Andreja; Podoreski, Dijana; Pavicin, Ivana Savić; Lovko, Sandra Kocijan

2010-09-01

Temporomandibular disorders are a form of musculoskeletal disorders, which reduce the function of stomatognathic system and they are related to some other diseases causing painful conditions and disorders of oral function. The aim of this paper is to describe a one year follow up clinical case of a female patient with comorbid multiple sclerosis and a relatively rare form of articular disc disorder. Primary clinical diagnostics encompassed manual methods of TMJ examination. Definite diagnosis included radiologic examination. Clinical hyperextensive condyle position was palpated bilaterally and subsequently confirmed by a functional panoramic radiograph of TMJ. The anterior displacement of disc with reduction was diagnosed by magnetic resonance and in the right joint there was a disc displacement upon excursive movement. From relevant literature, the relationship of a number of diseases that can be related to functional disorder of the orofacial system, such as multiple sclerosis, has been described from many aspects. Also, apart from the standard classification of one form of anterior displacement of the disc, made primarily by magnetic resonance, cases of disc displacement upon excursive mandibular movement can rarely be found in literature.

A Systematic Scoping Literature Review of Publications Supporting Treatment Guidelines for Pediatric Atopic Dermatitis in Contrast to Clinical Practice Patterns.

Science.gov (United States)

Siegfried, Elaine C; Jaworski, Jennifer C; Mina-Osorio, Paola

2018-06-01

Treatment guidelines endorse a variety of strategies for atopic dermatitis (AD) which may vary from published data and clinical practice patterns. The objective of this review was to quantify the volume of available medical literature supporting pediatric AD treatments and compare these patterns to those recommended by published guidelines and/or clinical practice patterns. Searches of Embase (2005-2016) and abstracts from selected meetings (2014-2016) related to AD treatment in patients younger than 17 years of age yielded references that were assessed by study design, primary treatment, age groups, and AD severity. Published literature partially supports clinical guidelines, with emollients and topical medications being the most investigated. There were disproportionately more publications for topical calcineurin inhibitors (TCI) compared with topical corticosteroids (TCS); however, the search interval may have biased the results toward treatments approved near the beginning of the time frame. In contrast, publications documenting clinical practice patterns reflect greater use of emollients and TCS (over TCI), as well as systemic corticosteroids. Data is relatively limited for long-term and combination treatment, treatment of severe AD, and patients younger than 2 years of age, and completely lacking for systemic corticosteroids. This scoping review demonstrates that available medical literature largely supports published guidelines for topical therapy; however, clinical practice patterns are less aligned. There is a lack of data for older, more frequently used generic treatments, including oral antihistamines, oral antibiotics, and systemic corticosteroids. Overall, literature is lacking for long-term treatment, treatment for patients younger than 2 years of age, and for systemic treatment for severe disease. Regeneron Pharmaceuticals Inc.

Maternal Depressive Symptoms following Autism Spectrum Diagnosis

Science.gov (United States)

Taylor, Julie Lounds; Warren, Zachary E.

2012-01-01

The current study examined depressive symptoms, concerning the week following autism spectrum diagnosis and an average of 1.4 years later, in mothers (n = 75) of young children diagnosed with an autism spectrum disorder (ASD). Over three-quarters of mothers (78.7%) provided retrospective reports of clinically significant depressive symptoms…

Electronic Cigarettes and Vaping: A New Challenge in Clinical Medicine and Public Health. A Literature Review

Science.gov (United States)

Palazzolo, Dominic L.

2013-01-01

Electronic cigarette (e-cigarette) use, or vaping, in the United States and worldwide is increasing. Their use is highly controversial from scientific, political, financial, psychological, and sociological ideologies. Given the controversial nature of e-cigarettes and vaping, how should medical care providers advise their patients? To effectively face this new challenge, health care professionals need to become more familiar with the existing literature concerning e-cigarettes and vaping, especially the scientific literature. Thus, the aim of this article is to present a review of the scientific evidence-based primary literature concerning electronic cigarettes and vaping. A search of the most current literature using the pubmed database dating back to 2008, and using electronic cigarette(s) or e-cigarette(s) as key words, yielded a total of 66 highly relevant articles. These articles primarily deal with (1) consumer-based surveys regarding personal views on vaping, (2) chemical analysis of e-cigarette cartridges, solutions, and mist, (3) nicotine content, delivery, and pharmacokinetics, and (4) clinical and physiological studies investigating the effects of acute vaping. When compared to the effects of smoking, the scant available literature suggests that vaping could be a “harm reduction” alternative to smoking and a possible means for smoking cessation, at least to the same degree as other Food and Drug Administration-approved nicotine replacement therapies. However, it is unclear if vaping e-cigarettes will reduce or increase nicotine addiction. It is obvious that more rigorous investigations of the acute and long-term health effects of vaping are required to establish the safety and efficacy of these devices; especially parallel experiments comparing the cardiopulmonary effects of vaping to smoking. Only then will the medical community be able to adequately meet the new challenge e-cigarettes and vaping present to clinical medicine and public health. PMID

Electronic cigarettes and vaping: a new challenge in clinical medicine and public health. A literature review.

Science.gov (United States)

Palazzolo, Dominic L

2013-11-18

Electronic cigarette (e-cigarette) use, or vaping, in the United States and worldwide is increasing. Their use is highly controversial from scientific, political, financial, psychological, and sociological ideologies. Given the controversial nature of e-cigarettes and vaping, how should medical care providers advise their patients? To effectively face this new challenge, health care professionals need to become more familiar with the existing literature concerning e-cigarettes and vaping, especially the scientific literature. Thus, the aim of this article is to present a review of the scientific evidence-based primary literature concerning electronic cigarettes and vaping. A search of the most current literature using the pubmed database dating back to 2008, and using electronic cigarette(s) or e-cigarette(s) as key words, yielded a total of 66 highly relevant articles. These articles primarily deal with (1) consumer-based surveys regarding personal views on vaping, (2) chemical analysis of e-cigarette cartridges, solutions, and mist, (3) nicotine content, delivery, and pharmacokinetics, and (4) clinical and physiological studies investigating the effects of acute vaping. When compared to the effects of smoking, the scant available literature suggests that vaping could be a "harm reduction" alternative to smoking and a possible means for smoking cessation, at least to the same degree as other Food and Drug Administration-approved nicotine replacement therapies. However, it is unclear if vaping e-cigarettes will reduce or increase nicotine addiction. It is obvious that more rigorous investigations of the acute and long-term health effects of vaping are required to establish the safety and efficacy of these devices; especially parallel experiments comparing the cardiopulmonary effects of vaping to smoking. Only then will the medical community be able to adequately meet the new challenge e-cigarettes and vaping present to clinical medicine and public health.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

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Alessandra Pawelec da Silva

Full Text Available CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS.DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil.METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia.RESULTS: Cytogenetic abnormalities were observed in three cases (13% and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10(q13; q24. We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma.CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.

Use of magnetic therapy in clinical neurology: literature review

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Shogam, I.I.; Lenchin, V.N.; Baranovskaya, A.V.

1985-01-01

A literature survey is presented on the current status of magnetic therapy in clinical neurology. It is generally accepted that the high susceptibility of the nervous system to the magnetic field is due to a large extent to the automatic component. Furthermore, it has also become clear that glial cells are far more susceptible to magnetic fields than are neurons. Controversy prevails on the question of whether the therapeutic effectiveness of magnetic fields involves a direct mechanism of action or an indirect one via reflex mechanisms. Nevertheless, effectiveness of magnetic therapy has been demonstrated and generally accepted in cases dealing with lagophthalmia, ptosis, various neuralgia, radiculitis, neuritis, vascular and infectious pathology of the brain, and so forth. Basically, the effectiveness of such therapy is strongly dependent on the location and the nature of the pathologic process, as well as on the functional status of the autonomic nervous system. In view of this, effective magnetic therapy is highly dependent on individualization of a given approach. 111 References.

Diagnosing autism spectrum disorders in elderly people

NARCIS (Netherlands)

van Niekerk, Maarten E. H.; Groen, Wouter; Vissers, Constance Th. W. M.; van Driel-de Jong, Dorine; Kan, Cees C.; Voshaar, Richard C. Oude

Background: As autism spectrum disorders (ASD) have largely been neglected in old-age psychiatry, the objective of the present paper is to describe the diagnostic process in elderly patients. Methods: A systematic review of the literature on ASD in older age was undertaken and illustrated by a case

The Michigan Autism Spectrum Questionnaire: A Rating Scale for High-Functioning Autism Spectrum Disorders

OpenAIRE

Ghaziuddin, M.; Welch, K.

2013-01-01

Although the DSM-5 has recently created a single category of autism spectrum disorder (ASD), delineation of its putative subtypes remains clinically useful. For this process, screening instruments should ideally be brief, simple, and easily available. The aim of this study is to describe the validity of one such instrument. We administered the Michigan Autism Spectrum Questionnaire (MASQ), a 10-item questionnaire, to 42 patients with ASD (age range 6–13 years, mean 9.7 years, SD 2.5, one fema...

Employment Programmes and Interventions Targeting Adults with Autism Spectrum Disorder: A Systematic Review of the Literature

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Hedley, Darren; Uljarevic, Mirko; Cameron, Lauren; Halder, Santoshi; Richdale, Amanda; Dissanayake, Cheryl

2017-01-01

Individuals with autism spectrum disorder face significant challenges entering the workforce; yet research in this area is limited and the issues are poorly understood. In this systematic review, empirical peer-reviewed studies on employment programmes, interventions and employment-related outcomes in individuals with autism spectrum disorder over…

Complementary and Alternative Therapies for Autism Spectrum Disorder

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Natascia Brondino

2015-01-01

Full Text Available Background. Complementary and alternative medicine (CAM represents a popular therapeutic option for patients with autism spectrum disorder (ASD. Unfortunately, there is a paucity of data regarding the efficacy of CAM in ASD. The aim of the present systematic review is to investigate trials of CAM in ASD. Material and Methods. We searched the following databases: MEDLINE, EMBASE, Cochrane Database of Systematic Reviews, CINAHL, Psychology and Behavioral Sciences Collection, Agricola, and Food Science Source. Results. Our literature search identified 2687 clinical publications. After the title/abstract screening, 139 publications were obtained for detailed evaluation. After detailed evaluation 67 studies were included, from hand search of references we retrieved 13 additional studies for a total of 80. Conclusion. There is no conclusive evidence supporting the efficacy of CAM therapies in ASD. Promising results are reported for music therapy, sensory integration therapy, acupuncture, and massage.

Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

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Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

2016-01-01

Background The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. Objectives To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. Design This study employed a scoping review method. Three reviewers separately assessed whether the articles found fit the inclusion criteria. Data sources PubMed, Scopus, Web of Science and Google Scholar (1991–2015). Article selection The review encompassed a broad search of English language studies published anytime up to November 2015. All articles were eligible for inclusion, including research papers employing either quantitative or qualitative methods, as well as editorials and other summary articles. Data extraction Data extracted from included publications were charted according to author(s), sample population, study design, key findings, country of origin and year of publication. Results Our review identified 6 key influences: intrinsic motivation, work–life balance, inclusiveness, work environment, mentorship and availability of funding. It also detected significant gaps within the literature about these influences. Conclusions Three key steps are proposed to help support postdoctoral trainee clinical academics. These focus on ensuring that researchers feel encouraged in their workplace, involved in collaborative dialogue with key stakeholders and able to access reliable information regarding their chosen career pathway. Finally, we highlight recommendations for future research. PMID:27798036

Self-Reported Autism Spectrum Disorder Symptoms Among Adults Referred to a Gender Identity Clinic.

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Vermaat, Lieke E W; van der Miesen, Anna I R; de Vries, Annelou L C; Steensma, Thomas D; Popma, Arne; Cohen-Kettenis, Peggy T; Kreukels, Baudewijntje P C

The purpose of this study was to (1) investigate autism spectrum disorder (ASD) symptoms in a sample of adults referred for gender dysphoria (GD) compared to typically developing (TD) populations, (2) see whether males assigned at birth with GD (MaB GD s) and females assigned at birth with GD (FaB GD s) differ in ASD symptom levels, (3) study the role of sexual orientation, and (4) investigate ASD symptoms' correlation with GD symptoms. The Autism-Spectrum Quotient (AQ) was used to measure ASD symptoms, and the Utrecht Gender Dysphoria Scale (UGDS) was used to measure the intensity of GD. Mean AQ scores of adults referred for GD (n = 326; 191 MaB GD and 135 FaB GD ) were compared to three TD populations taken from the literature (n = 1316; 667 male and 644 female, 5 birth-assigned sex unknown). The mean AQ score in individuals referred for GD was similar to the TD samples. FaB GD s showed higher mean AQ scores than MaB GD s, and they had mean scores similar to TD individuals of the same experienced gender (TD males). After selecting individuals with an UGDS score indicative of GD, a positive association between ASD and GD symptoms was found. The co-occurrence of GD and ASD in adults may not be as prevalent as previously suggested. Attenuation of sex differences in ASD might explain FaB GD s' and MaB GD s' ASD symptoms' similarity to those of TD individuals of the same experienced gender. Intensity of ASD symptoms might be correlated with intensity of GD symptoms, warranting further studies to elaborate on their potential co-occurrence.

Comparative clinical characteristics of neuromyelitis optica spectrum disorders with and without medulla oblongata lesions.

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Wang, Yanqiang; Zhang, Lei; Zhang, Bingjun; Dai, Yongqiang; Kang, Zhuang; Lu, Ciyong; Qiu, Wei; Hu, Xueqiang; Lu, Zhengqi

2014-05-01

Brainstem involvement, especially the medulla oblongata (MO), has been reported in neuromyelitis optica spectrum disorders (NMOSDs). The purpose of this study was to investigate retrospectively and compare clinical, laboratory, and imaging features of NMOSDs with and without MO lesions. A total of 170 patients with NMOSDs were enrolled, including 44 patients with MO lesions and 126 patients without MO lesions. Clinical features, laboratory tests, and magnetic resonance imaging findings among these patients were assessed. MO lesions were found in 25.9 % of the NMOSDs patients. The mean duration was 13 months. Patients with MO lesions had a higher Annualized relapse rate and Expanded Disability Status Score Scale. Headache, dizziness, nystagmus, dysarthria, intractable hiccup and nausea, choking cough or dysphagia, movement disorders, and neuropathic pain were more common in MO lesion patients. Patients with MO lesions were more frequently complicated with thyroid diseases. Multiple brain involvement, More importantly, Longitudinally extensive transverse myelitis were more frequently found in patients with MO lesions. MO lesions might be a symbol of more severe neurologic deficits and worse prognosis of NMOSDs.

Diprosopus: a unique case and review of the literature.

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Wu, June; Staffenberg, David A; Mulliken, John B; Shanske, Alan L

2002-12-01

We present a case of partial facial duplication in a male infant. The clinical, radiological, and laboratory findings for this patient are described, followed by a review of the literature. Craniofacial duplication is a rare form of conjoined twinning and presents in a wide spectrum, from dicephalus to diprosopus to partial facial duplication. Many of these cases can be diagnosed prenatally. Prenatal assessment of our patient revealed only agenesis of the corpus callosum. The pathogenesis is believed to involve duplication of the notochord. Where there are more severe associated anomalies, the prognosis is poor. Partial facial duplication, as in our case, is associated with fewer anomalies, and the prognosis is better. Symmetry and an excess of tissue, rather than deficiency, favor a positive result. Copyright 2002 Wiley-Liss, Inc.

A proteomic network approach across the ALS-FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain.

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Umoh, Mfon E; Dammer, Eric B; Dai, Jingting; Duong, Duc M; Lah, James J; Levey, Allan I; Gearing, Marla; Glass, Jonathan D; Seyfried, Nicholas T

2018-01-01

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is not well established. We performed a comparative unbiased mass spectrometry-based proteomic analysis of frontal cortical tissues from postmortem cases clinically defined as ALS, FTD, ALS and FTD (ALS/FTD), and controls. We also included a subset of patients with the C9orf72 expansion mutation, the most common genetic cause of both ALS and FTD Our systems-level analysis of the brain proteome integrated both differential expression and co-expression approaches to assess the relationship of these differences to clinical and pathological phenotypes. Weighted co-expression network analysis revealed 15 modules of co-expressed proteins, eight of which were significantly different across the ALS-FTD disease spectrum. These included modules associated with RNA binding proteins, synaptic transmission, and inflammation with cell-type specificity that showed correlation with TDP-43 pathology and cognitive dysfunction. Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases. A module enriched with astrocyte and microglia proteins was significantly increased in ALS cases carrying the C9orf72 mutation compared to sporadic ALS cases, suggesting that the genetic expansion is associated with inflammation in the brain even without clinical evidence of dementia. Together, these findings highlight the utility of integrative systems-level proteomic approaches to resolve clinical phenotypes and genetic mechanisms underlying the ALS-FTD disease spectrum in human brain. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

Infrared spectrum of arsenic pentafluoride

International Nuclear Information System (INIS)

Blanchard, S.

1967-01-01

After a literature review about arsenic fluorides, we give several methods of obtaining very pure AsF 5 in order to ascertain the right spectrum of this compound. Our spectra fit well with Akers's observations, and we note that AsF 5 structure can be explained in terms of C 3v molecular symmetry, with the As-F bond stretching lying at 786 cm -1 and 811 cm -1 . (author) [fr

Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

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Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

2013-01-01

An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

Clinical spectrum of psychogenic non epileptic seizures in children; an observational study.

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Madaan, Priyanka; Gulati, Sheffali; Chakrabarty, Biswaroop; Sapra, Savita; Sagar, Rajesh; Mohammad, Akbar; Pandey, R M; Tripathi, Manjari

2018-07-01

The current study was designed to analyze the clinical spectrum of Psychogenic non-epileptic seizures (PNES) in children. Children aged 6-16years with clinically suspected PNES, confirmed by short-term VEEG (STVEEG{video electroencephalogram}) and induction were classified as per Seneviratne classification. Stressors, associated co morbidities, Verbal IQ (Intelligence Quotient) and behavioral abnormalities were assessed using HTP(House tree person) test, DSM IV (Diagnostic and statistical manual of mental disorders) TR criteria, MISIC (Malin intelligence scale for Indian children) and CBCL (Child behaviour checklist). Eighty children with PNES {45 boys; mean age: 10.5 (±1.6) years} were enrolled. Median delay in diagnosis was 5 months {IQR(interquartile range)- 0.5 to 48 months}) and 45% patients were already on AEDs (antiepileptic drugs). Commonest semiology was dialeptic (42.5%), followed by mixed (28.8%), motor (15%) and nonepileptic aura (13.8%). Family stressors were the commonest followed by school related issues. The most common psychiatric comorbidity was adjustment disorder. Somatic complaints were observed in 50% children. Dialeptic PNES is commonest in children. In resource constrained settings, STVEEG along with induction is a reliable method to diagnose PNES. A comprehensive assessment protocol (including assessment of stressors) is needed for holistic management of pediatric PNES. Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Longitudinal assessment of clinical risk factors for depression in schizophrenia spectrum disorders.

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Onwuameze, Obiora E; Uga, Aghaegbulam; Paradiso, Sergio

2016-08-01

During initial assessment of individuals with schizophrenia and related disorders (schizophrenia spectrum disorders [SSDs]), clinicians tend to pay greater attention to psychotic symptoms than mood symptoms, including depression. Depression is reported to influence the course of SSDs, but not much is known about the risk factors for depression in SSDs. In the present study, we examined clinical predictors of depression in SSDs. The sample included 71 patients with SSDs followed in a modified Assertive Community Treatment program, the Community Support Network of Springfield, Illinois. The study design was naturalistic, prospective, and longitudinal (mean follow-up = 8.3 years; SD = 7.3). The GENMOD procedure appropriate for repeated measures analysis with dichotomous outcome variables followed longitudinally was computed. Rates of depression ranged from 18% to 41% over the differing assessment periods. Schizophrenia and schizoaffective disorder did not vary by depression rate. Depression independent of SSD diagnosis was associated with greater hospitalization rates. Clinical variables predict- ing depression were auditory hallucinations, delusions, poor insight, and poor judgment. Psychotic symptoms in the course of SSDs are risk factors for depression. As a consequence, the mental status examination of patients with SSDs with active psychosis should include assessment of mood changes. Further research is warranted to determine if treatment of depression among patients with SSDs may reduce their rates of hospitalization.

Rates of Autism Spectrum Disorder Diagnosis Under the DSM-5 Criteria Compared to DSM-IV-TR Criteria in a Hospital-Based Clinic.

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Hartley-McAndrew, Michelle; Mertz, Jana; Hoffman, Martin; Crawford, Donald

2016-04-01

We aimed to determine whether there was a decrease in the number of children diagnosed on the autism spectrum after the implementation of the new diagnostic criteria as outlined in the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition published in May 2013. We reviewed 1552 charts of children evaluated at the Women and Children's Hospital of Buffalo, Autism Spectrum Disorders Clinic. A comparison was made of children diagnosed with autism spectrum disorder (autism, Asperger disorder, pervasive developmental disorder-not otherwise specified) from 2010 to May 2013 using the Diagnostic and Statistical Manual of Mental Health Disorders Fourth Edition, Text Revision criteria with children diagnosed from June 2013 through June 2015 under the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition. Using χ(2) analysis, the 2013-2015 rate of autism spectrum disorder diagnosis (39%) was significantly lower (P disorder diagnosis was significantly lower under the recently implemented Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition criteria. Published by Elsevier Inc.

Hypertrophic pachymeningitis: Current criteria for diagnosis and differentiation (Clinical case and review of literature

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E. G. Mendelevich

2015-01-01

Full Text Available The paper describes a 44-year-old male patient with an about 6-year history of hypertrophic pachymeningitis. The major clinical symptoms were characterized by headache, exophthalmos, and blindness in one eye. The data for differential diagnosis of the disease are given. The current literature on the clinical manifestations of hypertrophic pachymeningitis, its differential diagnosis, and the results of magnetic resonance imaging (MRI is reviewed. Diagnostic difficulties at the stage of a clinical observation are due to the nonspecificity of neurological manifestations and the need for a comprehensive examination to detect a somatic disease. MRI can diagnose the disease-specific phenomenon of damage to the meninges, which calls for further careful differentiation. Clinicians must be familiar with alternative differential diagnosis, as a rapid specific therapeutic approach will help avoid long-term or irreversible neurological complications.

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

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Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

2014-01-01

BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines

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Elizabeth Peadon

2010-08-01

Full Text Available Elizabeth Peadon, Elizabeth J ElliottDiscipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, AustraliaAbstract: Fetal alcohol spectrum disorders (FASD are the physical and neurodevelopmental outcomes of fetal alcohol exposure. The behavioral phenotype of children with FASD includes difficulties with executive function, memory, planning, processing speed, and attention. Although attention deficit hyperactivity disorder (ADHD is diagnosed in up to 94% of individuals with heavy prenatal alcohol exposure, the exact relationship between FASD and ADHD is unclear. There is some evidence that ADHD in FASD may be a specific clinical subtype and thus may require a different treatment approach. Although traditional behavioral observation scales may not distinguish between the two groups, there is evidence that children with FASD have a different profile on the four-factor model of attention than children with ADHD who do not have FASD. There is a paucity of good scientific evidence on effective interventions for individuals with ADHD and FASD. There is weak evidence that children with FASD and ADHD may have a better response to dexamphetamine than methylphenidate. There is a strong need for larger, high quality studies to examine the relationship between ADHD and FASD and identify effective treatments because management of inattention and hyperactivity may improve learning and ameliorate the common secondary disabilities associated with FASD.Keywords: fetal alcohol spectrum disorders, attention deficit hyperactivity disorder

Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature.

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Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

2016-10-21

The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. This study employed a scoping review method. Three reviewers separately assessed whether the articles found fit the inclusion criteria. PubMed, Scopus, Web of Science and Google Scholar (1991-2015). The review encompassed a broad search of English language studies published anytime up to November 2015. All articles were eligible for inclusion, including research papers employing either quantitative or qualitative methods, as well as editorials and other summary articles. Data extracted from included publications were charted according to author(s), sample population, study design, key findings, country of origin and year of publication. Our review identified 6 key influences: intrinsic motivation, work-life balance, inclusiveness, work environment, mentorship and availability of funding. It also detected significant gaps within the literature about these influences. Three key steps are proposed to help support postdoctoral trainee clinical academics. These focus on ensuring that researchers feel encouraged in their workplace, involved in collaborative dialogue with key stakeholders and able to access reliable information regarding their chosen career pathway. Finally, we highlight recommendations for future research. 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/.

Four case reports of Chinese cystic fibrosis patients and literature review.

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Xu, Juan; Yin, Yong; Zhang, Lei; Zhang, Jing; Yuan, Shuhua; Zhang, Hao

2017-08-01

Cystic fibrosis (CF) is an extremely rare disease in Asians. Here, we report four Chinese children with CF and review the literature about Chinese CF patients. The cystic fibrosis transmembrane conductance regulator (CFTR) gene testing was performed on four suspected patients for CF screening. We also reviewed the literature about Chinese CF patients from 1970s. The clinical data of all these CF patients were summarized. We diagnosed four CF patients who had mutations in the CFTR gene. We identified six different mutations in the four patients. The c.1766+5G>T, c.595C>T, c.2909G>A, and c.4056G>C had been reported already. The two splicing mutations of c.579+1_579+2insACAT and c.1117-1G>C were novel mutations. There have been 46 Chinese CF patients reported in literature from 1974 up to present (2016.12). The clinical manifestations of CF involved several systems. The most common symptom was recurrent pulmonary infections. Thirty-three different mutations were identified; c.1766 + 5G>T was the most common mutation among Chinese CF patients. Only one of these mutations (R553X) was in the Caucasian CF screening panel. The spectrum of CFTR mutations in Chinese was highly different from that of Caucasian. There was a high risk of misdiagnosis or delayed diagnosis of CF even in suspected cases in China. It is necessary to educate Chinese clinicians about the signs, symptoms, and diagnosis of cystic fibrosis and promote the implementation of the sweat chloride test. © 2017 Wiley Periodicals, Inc.

Recent advances in autism research as reflected in DSM-5 criteria for autism spectrum disorder.

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Lord, Catherine; Bishop, Somer L

2015-01-01

This article provides a selective review of advances in scientific knowledge about autism spectrum disorder (ASD), using DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, fifth edition) diagnostic criteria as a framework for the discussion. We review literature that prompted changes to the organization of ASD symptoms and diagnostic subtypes in DSM-IV, and we examine the rationale for new DSM-5 specifiers, modifiers, and severity ratings as well as the introduction of the diagnosis of social (pragmatic) communication disorder. Our goal is to summarize and critically consider the contribution of clinical psychology research, along with that of other disciplines, to the current conceptualization of ASD.

Intersubjectivity and Psychopathology in the Schizophrenia Spectrum: Complicated We, Compensatory Strategies, and Self-Disorders.

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Henriksen, Mads Gram; Nilsson, Lars Siersbæk

2017-01-01

Recent studies in phenomenological psychopathology emphasize the importance of intersubjectivity for our understanding of schizophrenia. Yet, the central role of the "we" in social experience and engagement is largely absent from this literature. Our study explores the relation between psychopathology and intersubjectivity in the schizophrenia spectrum through the prism of the "we." First, we explore the role of intersubjectivity in the current schizophrenia spectrum definitions and discuss the main contemporary research trends. Second, we recollect some of the classical accounts of schizophrenia, which offer a different perspective on the pervasive and often persistent intersubjective difficulties in these conditions. Third, capitalizing on recent advances in collective intentionality studies, we present and discuss a conceptual framework of the "we" and of how the "we" may be disrupted in schizophrenia. Through this framework and with the use of clinical vignettes, we elicit 3 compensatory strategies, which, we suggest, reflect a fragile sense of "we" in the schizophrenia spectrum, i.e. (i) positive withdrawal, (ii) imposing a goal-oriented, spatiotemporal structure on intersubjective engagement, and (iii) preferring social activities with a clear attribution of social roles and rules. Finally, we discuss the relation between anomalous self-experiences (i.e. self-disorders) and the complicated "we." © 2017 S. Karger AG, Basel.

The clinical spectrum and therapeutic management of hypocomplementemic urticarial vasculitis: data from a French nationwide study of fifty-seven patients.

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Jachiet, Marie; Flageul, Béatrice; Deroux, Alban; Le Quellec, Alain; Maurier, François; Cordoliani, Florence; Godmer, Pascal; Abasq, Claire; Astudillo, Leonardo; Belenotti, Pauline; Bessis, Didier; Bigot, Adrien; Doutre, Marie-Sylvie; Ebbo, Mikaël; Guichard, Isabelle; Hachulla, Eric; Héron, Emmanuel; Jeudy, Géraldine; Jourde-Chiche, Noémie; Jullien, Denis; Lavigne, Christian; Machet, Laurent; Macher, Marie-Alice; Martel, Clotilde; Melboucy-Belkhir, Sara; Morice, Cécile; Petit, Antoine; Simorre, Bernard; Zenone, Thierry; Bouillet, Laurence; Bagot, Martine; Frémeaux-Bacchi, Véronique; Guillevin, Loïc; Mouthon, Luc; Dupin, Nicolas; Aractingi, Selim; Terrier, Benjamin

2015-02-01

Hypocomplementemic urticarial vasculitis (HUV) is an uncommon vasculitis of unknown etiology that is rarely described in the literature. We undertook this study to analyze the clinical spectrum and the therapeutic management of patients with HUV. We conducted a French nationwide retrospective study that included 57 patients with chronic urticaria, histologic leukocytoclastic vasculitis, and hypocomplementemia. We assessed clinical and laboratory data and evaluated the patients' cutaneous and immunologic responses to therapy. We evaluated treatment efficacy by measuring the time to treatment failure. Urticarial lesions were typically more pruritic than painful and were associated with angioedema in 51% of patients, purpura in 35%, and livedo reticularis in 14%. Extracutaneous manifestations included constitutional symptoms (in 56% of patients) as well as musculoskeletal involvement (in 82%), ocular involvement (in 56%), pulmonary involvement (in 19%), gastrointestinal involvement (in 18%), and kidney involvement (in 14%). Patients with HUV typically presented with low C1q levels and normal C1 inhibitor levels, in association with anti-C1q antibodies in 55% of patients. Hydroxychloroquine or colchicine seemed to be as effective as corticosteroids as first-line therapy. In patients with relapsing and/or refractory disease, rates of cutaneous and immunologic response to therapy seemed to be higher with conventional immunosuppressive agents, in particular, azathioprine, mycophenolate mofetil, or cyclophosphamide, while a rituximab-based regimen tended to have higher efficacy. Finally, a cutaneous response to therapy was strongly associated with an immunologic response to therapy. HUV represents an uncommon systemic and relapsing vasculitis with various manifestations, mainly, musculoskeletal and ocular involvement associated with anti-C1q antibodies, which were found in approximately half of the patients. The best strategy for treating HUV has yet to be defined

Delayed diagnosis of post-surgical pyoderma gangrenosum: A multicenter case series and review of literature

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Rawaa Almukhtar

Full Text Available Introduction: Pyoderma gangrenosum is a chronic neutrophilic dermatosis which can occur following trauma or surgery and can mimic infection. Surgical intervention can lead to progression of disease. Presentation of cases: This case series describes 3 cases of post-surgical pyoderma gangrenosum with delayed diagnosis from two large medical centers. Discussion: Epidemiology, pathogenesis, clinical and histopathologic presentation, and management of post-surgical pyoderma gangrenosum are discussed with a review of the literature. Conclusion: Post-surgical pyoderma gangrenosum (PSPG can mimic ulcerative disorders including bacterial infection. The diagnosis should be suspected in post-operative wounds with negative bacterial cultures which progress despite broad-spectrum antibiotics and surgical debridement. Recognizing the clinical features of PSPG is fundamental to prevent severe destruction and deformity. Keywords: Post-surgical, Pyoderma gangrenosum, Necrotizing fasciitis, Case report

Spectrum of pediatric neuromyelitis optica.

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Lotze, Timothy E; Northrop, Jennifer L; Hutton, George J; Ross, Benjamin; Schiffman, Jade S; Hunter, Jill V

2008-11-01

Our goal was to describe the spectrum of clinical phenotypes, laboratory and imaging features, and treatment in pediatric patients with neuromyelitis optica. The study consisted of a retrospective chart review of patients followed in a pediatric multiple sclerosis center with a diagnosis of neuromyelitis optica spectrum disorder. Nine patients with neuromyelitis optica spectrum disorders were included, all of whom were female. There were 4 black children, 2 Latin American children, 2 white children, and 1 child of mixed Latin American/white heritage. Median age at initial attack was 14 years (range: 1.9-16 years). Median disease duration was 4 years (range: 0.6-9 years). Tests for neuromyelitis optica immunoglobulin G were positive for 7 patients. Eight patients had transverse myelitis and optic neuritis, and 1 patient had longitudinally extensive transverse myelitis without optic neuritis but had a positive neuromyelitis optica immunoglobulin G antibody titer. Cerebral involvement on MRI was found in all subjects, 5 of whom were symptomatic with encephalopathy, seizures, hemiparesis, aphasia, vomiting, or hiccups. Immunosuppressive therapy reduced attack frequency and progression of disability. Pediatric neuromyelitis optica has a diverse clinical presentation and may be difficult to distinguish from multiple sclerosis in the early stages of the disease. The recognition of the broad spectrum of this disease to include signs and symptoms of brain involvement is aided by the availability of a serum biomarker: neuromyelitis optica immunoglobulin G. Early diagnosis and immunosuppresive treatment may help to slow the accumulation of severe disability.

The role of emotion in clinical decision making: an integrative literature review.

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Kozlowski, Desirée; Hutchinson, Marie; Hurley, John; Rowley, Joanne; Sutherland, Joanna

2017-12-15

Traditionally, clinical decision making has been perceived as a purely rational and cognitive process. Recently, a number of authors have linked emotional intelligence (EI) to clinical decision making (CDM) and calls have been made for an increased focus on EI skills for clinicians. The objective of this integrative literature review was to identify and synthesise the empirical evidence for a role of emotion in CDM. A systematic search of the bibliographic databases PubMed, PsychINFO, and CINAHL (EBSCO) was conducted to identify empirical studies of clinician populations. Search terms were focused to identify studies reporting clinician emotion OR clinician emotional intelligence OR emotional competence AND clinical decision making OR clinical reasoning. Twenty three papers were retained for synthesis. These represented empirical work from qualitative, quantitative, and mixed-methods approaches and comprised work with a focus on experienced emotion and on skills associated with emotional intelligence. The studies examined nurses (10), physicians (7), occupational therapists (1), physiotherapists (1), mixed clinician samples (3), and unspecified infectious disease experts (1). We identified two main themes in the context of clinical decision making: the subjective experience of emotion; and, the application of emotion and cognition in CDM. Sub-themes under the subjective experience of emotion were: emotional response to contextual pressures; emotional responses to others; and, intentional exclusion of emotion from CDM. Under the application of emotion and cognition in CDM, sub-themes were: compassionate emotional labour - responsiveness to patient emotion within CDM; interdisciplinary tension regarding the significance and meaning of emotion in CDM; and, emotion and moral judgement. Clinicians' experienced emotions can and do affect clinical decision making, although acknowledgement of that is far from universal. Importantly, this occurs in the in the absence of a

[A multidiscipline clinical and biological approach to the study of psychotic types of autistic spectrum disorders in children].

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Simashkova, N V; Iakupova, L P; Kliushnik, T P; Koval'-Zaĭtsev, A A

2013-01-01

The current problem of heterogeneity of psychotic types of autistic spectrum disorders (ASD) is reviewed. The authors present results of a multidiscipline psychopathological, pathopsychological, neurophysiological and immunological examination of 87 patients, aged from 3 to 14 years, with psychotic types of ASD: childhood psychosis (CP) and atypical childhood psychosis (ACP). Significant differences in clinical presentations of CP and ACP that were correlated with pathopsychological, neurophysiological and immunological disorders were found. These findings support different nosological entities of these types of ASD.

Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.

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Emma W Viscidi

Full Text Available To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population.Cross-sectional study using four samples of children with ASD for a total of 5,815 participants with ASD. The prevalence of epilepsy was estimated from a population-based sample. Children with and without epilepsy were compared on demographic and clinical characteristics. Multivariate logistic regression was used to examine the association between demographic and clinical characteristics and epilepsy.The average prevalence of epilepsy in children with ASD 2-17 years was 12.5%; among children aged 13 years and older, 26% had epilepsy. Epilepsy was associated with older age, lower cognitive ability, poorer adaptive and language functioning, a history of developmental regression and more severe ASD symptoms. The association between epilepsy and the majority of these characteristics appears to be driven by the lower IQ of participants with epilepsy. In a multivariate regression model, only age and cognitive ability were independently associated with epilepsy. Children age 10 or older had 2.35 times the odds of being diagnosed with epilepsy (p<.001 and for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% (p<.001.This is among the largest studies to date of patients with ASD and co-occurring epilepsy. Based on a representative sample of children with ASD, the average prevalence of epilepsy is approximately 12% and reaches 26% by adolescence. Independent associations were found between epilepsy and older age and lower cognitive ability. Other risk factors, such as poor language and developmental regression, are not associated with epilepsy after controlling for IQ. These findings can help guide prognosis and alert clinicians to patients with ASD who are at increased risk for epilepsy.

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries

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Kwong, Ava; Shin, Vivian Y; Ho, John C W; Kang, Eunyoung; Nakamura, Seigo; Teo, Soo-Hwang; Lee, Ann S G; Sng, Jen-Hwei; Ginsburg, Ophira M; Kurian, Allison W; Weitzel, Jeffrey N; Siu, Man-Ting; Law, Fian B F; Chan, Tsun-Leung; Narod, Steven A; Ford, James M; Ma, Edmond S K; Kim, Sung-Won

2015-01-01

Approximately 5%–10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, populations or ethnic groups. In this review, we compiled data from 11 participating Asian countries (Bangladesh, Mainland China, Hong Kong SAR, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, Thailand and Vietnam), and from ethnic Asians residing in Canada and the USA. We have additionally conducted a literature review to include other Asian countries mainly in Central and Western Asia. We present the current pathogenic mutation spectrum of BRCA1/BRCA2 genes in patients with breast cancer in various Asian populations. Understanding BRCA1/BRCA2 mutations in Asians will help provide better risk assessment and clinical management of breast cancer. PMID:26187060

Emerging Perils of Extended Spectrum β-Lactamase Producing Enterobacteriaceae Clinical Isolates in a Teaching Hospital of Nepal

Directory of Open Access Journals (Sweden)

Narayan Prasad Parajuli

2016-01-01

Full Text Available Introduction. Infections due to extended spectrum β-lactamase producing Enterobacteriaceae are on the rise. They pose serious public health problems due to their resistance to large number of antibiotics. However, little is known about the genotypes of ESBL from Nepal. Therefore, the study presents results of phenotypic and molecular characterization of ESBL producing Escherichia coli and Klebsiella spp. isolated from various clinical specimens in a tertiary care teaching hospital of Nepal. Methods. A total of 172 Enterobacteriaceae clinical isolates recovered from various clinical specimens were analyzed for their antibiotic susceptibility test. Detection of ESBLs was carried out using combination disk test and multiplex PCR for their genotypes (CTX-M, SHV, and TEM. Results. Out of 172 clinical isolates, 70 (40.6% of them were found ESBL producers. The major source of ESBL producers was urinary tract samples and the highest ESBL production was observed in Escherichia coli (46.5%. Among ESBL genotypes, CTX-M (91.4% was most predominant, followed by TEM (65.7% and SHV (11.4% in both of the isolates. Conclusions. High level of drug resistance and ESBL production was observed among the clinical isolates. There is a need for longitudinal and nationwide surveillance for drug resistance in clinical isolates and antimicrobial stewardship is necessary to guide the appropriate and judicious antibiotic use.

Emerging Perils of Extended Spectrum β-Lactamase Producing Enterobacteriaceae Clinical Isolates in a Teaching Hospital of Nepal.

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Parajuli, Narayan Prasad; Maharjan, Pooja; Joshi, Govardhan; Khanal, Puspa Raj

2016-01-01

Introduction . Infections due to extended spectrum β -lactamase producing Enterobacteriaceae are on the rise. They pose serious public health problems due to their resistance to large number of antibiotics. However, little is known about the genotypes of ESBL from Nepal. Therefore, the study presents results of phenotypic and molecular characterization of ESBL producing Escherichia coli and Klebsiella spp. isolated from various clinical specimens in a tertiary care teaching hospital of Nepal. Methods . A total of 172 Enterobacteriaceae clinical isolates recovered from various clinical specimens were analyzed for their antibiotic susceptibility test. Detection of ESBLs was carried out using combination disk test and multiplex PCR for their genotypes (CTX-M, SHV, and TEM). Results . Out of 172 clinical isolates, 70 (40.6%) of them were found ESBL producers. The major source of ESBL producers was urinary tract samples and the highest ESBL production was observed in Escherichia coli (46.5%). Among ESBL genotypes, CTX-M (91.4%) was most predominant, followed by TEM (65.7%) and SHV (11.4%) in both of the isolates. Conclusions . High level of drug resistance and ESBL production was observed among the clinical isolates. There is a need for longitudinal and nationwide surveillance for drug resistance in clinical isolates and antimicrobial stewardship is necessary to guide the appropriate and judicious antibiotic use.

Self-disorders and the Schizophrenia Spectrum

DEFF Research Database (Denmark)

Nordgaard, Julie; Parnas, Josef

2014-01-01

INTRODUCTION: Self-disorders (SD) have been described as a core feature of schizophrenia both in classical and recent psychopathological literature. However, the specificity of SD for the schizophrenia spectrum disorders has never been demonstrated in a diagnostically heterogeneous sample, nor has...... the concurrent validity of SD been examined. AIM: (1) To examine the specificity of Examination of Anomalous Self-Experiences (EASE) measured SD to the schizophrenia spectrum disorder in first contact inpatients, (2) to explore the internal consistency and factorial structure of the EASE, (3) to assess...... the concurrent validity of SD by exploring correlations between SD and the canonical psychopathological dimensions of schizophrenia, (4) to explore relations of SD to intelligence, sociodemographic, and extrinsic illness characteristics. METHODS: A total of 100 consecutive first admission patients underwent...

Is there a way for clinical teachers to assist struggling learners? A synthetic review of the literature

Directory of Open Access Journals (Sweden)

Boileau E

2017-01-01

Full Text Available Elisabeth Boileau,1 Christina St-Onge,2 Marie-Claude Audétat3 1Department of Family and Emergency Medicine, 2Department of Medicine, Université de Sherbrooke, Sherbrooke, QC, Canada; 3Unité des Internistes Généralistes et Pédiatres, Université de Genève, Geneva, Switzerland Abstract: Struggling medical trainees pose a challenge to clinical teachers, since these learners warrant closer supervision that is time-consuming and competes with time spent on patient care. Clinical teachers’ perception that they are ill equipped to address learners’ difficulties efficiently may lead to delays or even lack of remediation for these learners. Because of the paucity of evidence to guide best practices in remediation, the best approach to guide clinical teachers in the field remains to be established. We aimed to present a synthetic review of the empirical evidence and theory that may guide clinical teachers in their daily task of supervising struggling learners, reviewing current knowledge on the challenges and solutions that have been identified and explored. A computerized literature search was performed using Medline, Embase, Education Resources Information Center, and Education Source, after which final articles were selected based on relevance. The literature reviewed provided best evidence for clinical teachers to address learners’ difficulties, which is presented in the order of the four steps inherent to the clinical approach: 1 detecting a problem based on a subjective impression, 2 gathering and documenting objective data, 3 assessing data to make a diagnosis, and 4 planning remediation. A synthesized classification of pedagogical diagnoses is also presented. This review provides an outline of practical recommendations regarding the supervision and management of struggling learners up to the remediation phase. Our findings suggest that future research and faculty development endeavors should aim to operationalize remediation

Social Skill Interventions for Youth and Adults with Autism Spectrum Disorder: A Systematic Review

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Ke, Fengfeng; Whalon, Kelly; Yun, Joonmo

2018-01-01

This article is intended to synthesize the broader literature investigating the effectiveness and salient features of interventions designed to enhance the social competence of youth and adults with autism spectrum disorder. Outcomes for adults with autism spectrum disorder remain poor with only minimal improvement shown for decades. Among 796…

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature.

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Lorenzo, Melissa; Stolte-Dijkstra, Irene; van Rheenen, Patrick; Smith, Ronald Garth; Scheers, Tom; Walia, Jagdeep S

2018-04-25

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit time, difficulty regulating temperature, several musculoskeletal issues, and a history of one grand mal seizure. Patient 2, 10-years-old, has mild dysmorphic features, therapy resistant vomiting with diminished motility of the stomach, mild constipation, cortical visual impairment with intermittent strabismus, axial hypotonia, difficulty regulating temperature, and cutaneous mastocytosis. Genetic testing identified KIAA2022 variant c.652C > T(p.Arg218*) in Patient 1, and a novel nonsense de novo variant c.2707G > T(p.Glu903*) in Patient 2. We also summarized features of all reported males with KIAA2022 variants to date. This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together. © 2018 Wiley Periodicals, Inc.

Into the Unknown: Aging with Autism Spectrum Disorders

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Perkins, Elizabeth A.; Berkman, Karen A.

2012-01-01

Research investigation of older adults with autism spectrum disorders (ASD) noticeably lags behind studies of children and younger adults with ASD. This article reviews the current literature regarding a range of quality of life outcomes of aging adults with ASD. Studies that have addressed life expectancy, comorbid physical and mental health…

Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories

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Roberto Canitano

2017-05-01

Full Text Available Autism spectrum disorders (ASD and schizophrenia spectrum disorders (SSD share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than would be predicted by their respective prevalence, suggesting that a complex, multifactor association is involved. However, DSM-5 maintains the distinction between ASD, with core social and communication impairments, and SSD, including schizophrenia (SCZ, with hallucinations, delusions, and thought disorder as essential features. ASD and SSD have common biological underpinnings that may emerge early in development and unfold over time. One of the hypotheses supporting the similarities in the social and cognitive disturbances of ASD and SSD relates to abnormalities in the ratio of excitatory to inhibitory cortical activity (E/I imbalance. E/I imbalance in neurodevelopmental disorders could be the consequence of abnormalities in genes coding for glutamatergic and GABAergic receptors or synaptic proteins followed by system derangements. SSD and ASD have been characterized as polygenic disorders in which to the onset and progression of disease is triggered by interactions among multiple genes. Mammalian target of rapamycin signaling is under intense investigation as a convergent altered pathway in the two spectrum disorders. Current understanding of shared and divergent patterns between ASD and SSD from molecular to clinical aspects is still incomplete and may be implemented by the research domain criteria approach.

[Wide-spectrum clinical interventions in mental health: 'care' and 'subject supposed to know' in therapeutic assistance].

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Estellita-Lins, Carlos; Oliveira, Verônica Miranda; Coutinho, Maria Fernanda

2009-01-01

This paper discusses the theme therapeutic assistance (TA), understood as homecare-based mental health intervention. We emphasize the importance of community interventions for dealing with psychic suffering, either through reading the symptoms based on visibility, or through a psychoanalytic approach mainly concerned with listening. Lacking an independent theoretical background to support this practice, therapeutic assistance makes use of theories coming from other related fields of knowledge. Therefore, we discuss the influence of psychoanalysis and its role among broad spectrum mental health practice through clinical interventions belonging to the field of TA, focusing on two long-range operative concepts: Lacan's subject supposed to know and Winnicott's care (or caring process). Both concepts guide the clinical action and provide answers to theoretical problems within the TA field. We conclude that TA meets some requirements of the classical management of transference by means of a complex care process developed in the daily life and environment of the patient, in which desire and subjectivity are necessarily recognized although no psychotherapic setting is intentionally settled. Therapeutic assistance performs the role of an advanced clinical sentinel in the field of community psychiatry and public health.

How well Are Children with Autism Spectrum Disorder Doing Academically at School? An Overview of the Literature

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Keen, Deb; Webster, Amanda; Ridley, Greta

2016-01-01

The academic achievement of individuals with autism spectrum disorder has received little attention from researchers despite the importance placed on this by schools, families and students with autism spectrum disorder. Investigating factors that lead to increased academic achievement thus would appear to be very important. A review of the…

[Concordances between autism spectrum disorders and attention deficit hyperactivity disorder].

Science.gov (United States)

Mulas, F; Roca, P

2018-03-01

The current literature acknowledges an overlap of genetic, clinical and neuropsychological aspects between autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), suggesting that there may be a common pattern that covers features ranging from the common genetic and structural aetiology to shared patterns of symptoms. To review the current advances in these common aspects. Several studies have pointed out preschool attentional difficulties as the basis of both disorders. From the genetic perspective, it is estimated that 50-72% of the genetic factors overlap between the two disorders. They also share a decrease in the volume of the corpus callosum and left frontal grey matter, as well as functional alterations such as dorsolateral prefrontal, striato-thalamic and superior parietal hypoactivation. Results are also found regarding executive functioning, with differential profiles for the two conditions, and also concerning the relationship between the repetitive and impulsive behaviours in the early stages of ASD and ensuing problems of hyperactivity. This new conception of the ASD-ADHD continuum, with a common neurodevelopmental basis and associated clinical features, could be of great use in clinical practice. It is suggested that this association should be taken into account when it comes to deciding on the treatment.

Dutch guideline for clinical foetal-neonatal and paediatric post-mortem radiology, including a review of literature.

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Sonnemans, L J P; Vester, M E M; Kolsteren, E E M; Erwich, J J H M; Nikkels, P G J; Kint, P A M; van Rijn, R R; Klein, W M

2018-06-01

Clinical post-mortem radiology is a relatively new field of expertise and not common practice in most hospitals yet. With the declining numbers of autopsies and increasing demand for quality control of clinical care, post-mortem radiology can offer a solution, or at least be complementary. A working group consisting of radiologists, pathologists and other clinical medical specialists reviewed and evaluated the literature on the diagnostic value of post-mortem conventional radiography (CR), ultrasonography, computed tomography (PMCT), magnetic resonance imaging (PMMRI), and minimally invasive autopsy (MIA). Evidence tables were built and subsequently a Dutch national evidence-based guideline for post-mortem radiology was developed. We present this evaluation of the radiological modalities in a clinical post-mortem setting, including MIA, as well as the recently published Dutch guidelines for post-mortem radiology in foetuses, neonates, and children. In general, for post-mortem radiology modalities, PMMRI is the modality of choice in foetuses, neonates, and infants, whereas PMCT is advised in older children. There is a limited role for post-mortem CR and ultrasonography. In most cases, conventional autopsy will remain the diagnostic method of choice. Based on a literature review and clinical expertise, an evidence-based guideline was developed for post-mortem radiology of foetal, neonatal, and paediatric patients. What is Known: • Post-mortem investigations serve as a quality check for the provided health care and are important for reliable epidemiological registration. • Post-mortem radiology, sometimes combined with minimally invasive techniques, is considered as an adjunct or alternative to autopsy. What is New: • We present the Dutch guidelines for post-mortem radiology in foetuses, neonates and children. • Autopsy remains the reference standard, however minimal invasive autopsy with a skeletal survey, post-mortem computed tomography, or post

Chest CT using spectral filtration: radiation dose, image quality, and spectrum of clinical utility

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Braun, Franziska M.; Johnson, Thorsten R.C.; Sommer, Wieland H.; Thierfelder, Kolja M.; Meinel, Felix G. [University Hospital Munich, Institute for Clinical Radiology, Munich (Germany)

2015-06-01

To determine the radiation dose, image quality, and clinical utility of non-enhanced chest CT with spectral filtration. We retrospectively analysed 25 non-contrast chest CT examinations acquired with spectral filtration (tin-filtered Sn100 kVp spectrum) compared to 25 examinations acquired without spectral filtration (120 kV). Radiation metrics were compared. Image noise was measured. Contrast-to-noise-ratio (CNR) and figure-of-merit (FOM) were calculated. Diagnostic confidence for the assessment of various thoracic pathologies was rated by two independent readers. Effective chest diameters were comparable between groups (P = 0.613). In spectral filtration CT, median CTDI{sub vol}, DLP, and size-specific dose estimate (SSDE) were reduced (0.46 vs. 4.3 mGy, 16 vs. 141 mGy*cm, and 0.65 vs. 5.9 mGy, all P < 0.001). Spectral filtration CT had higher image noise (21.3 vs. 13.2 HU, P < 0.001) and lower CNR (47.2 vs. 75.3, P < 0.001), but was more dose-efficient (FOM 10,659 vs. 2,231/mSv, P < 0.001). Diagnostic confidence for parenchymal lung disease and osseous pathologies was lower with spectral filtration CT, but no significant difference was found for pleural pathologies, pulmonary nodules, or pneumonia. Non-contrast chest CT using spectral filtration appears to be sufficient for the assessment of a considerable spectrum of thoracic pathologies, while providing superior dose efficiency, allowing for substantial radiation dose reduction. (orig.)

A survey of Australian chiropractors' attitudes and beliefs about evidence-based practice and their use of research literature and clinical practice guidelines.

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Walker, Bruce F; Stomski, Norman J; Hebert, Jeff J; French, Simon D

2013-12-17

Research into chiropractors' use of evidence in clinical practice appears limited to a single small qualitative study. The paucity of research in this area suggests that it is timely to undertake a more extensive study to build a more detailed understanding of the factors that influence chiropractors' adoption of evidence-based practice (EBP) principles. This study aimed to identify Australian chiropractors' attitudes and beliefs towards EBP in clinical practice, and also examine their use of research literature and clinical practice guidelines. We used an online questionnaire about attitudes, beliefs and behaviours towards the use of EBP in clinical practice that had been developed to survey physiotherapists and modified it to ensure that it was relevant to chiropractic practice. We endeavoured to survey all registered Australian chiropractors (n = 4378) via email invitation distributed by Australian chiropractic professional organisations and the Chiropractic Board of Australia. Logistic regression analyses were conducted to examine univariate associations between responses to items measuring attitudes and beliefs with items measuring: age; years since registration; attention to literature; and use of clinical practice guidelines. Questionnaires were returned by 584 respondents (response rate approximately 13%). The respondents' perceptions of EBP were generally positive: most agreed that the application of EBP is necessary (77.9%), literature and research findings are useful (80.2%), EBP helps them make decisions about patient care (66.5%), and expressed an interest in learning or improving EBP skills (74.9%). Almost half of the respondents (45.1%) read between two to five articles a month. Close to half of the respondents (44.7%) used literature in the process of clinical decision making two to five times each month. About half of the respondents (52.4%) agreed that they used clinical practice guidelines, and around half (54.4%) agreed that they were able

Critical appraisal of published literature

Science.gov (United States)

Umesh, Goneppanavar; Karippacheril, John George; Magazine, Rahul

2016-01-01

With a large output of medical literature coming out every year, it is impossible for readers to read every article. Critical appraisal of scientific literature is an important skill to be mastered not only by academic medical professionals but also by those involved in clinical practice. Before incorporating changes into the management of their patients, a thorough evaluation of the current or published literature is an important step in clinical practice. It is necessary for assessing the published literature for its scientific validity and generalizability to the specific patient community and reader's work environment. Simple steps have been provided by Consolidated Standard for Reporting Trial statements, Scottish Intercollegiate Guidelines Network and several other resources which if implemented may help the reader to avoid reading flawed literature and prevent the incorporation of biased or untrustworthy information into our practice. PMID:27729695

Critical appraisal of published literature

Directory of Open Access Journals (Sweden)

Goneppanavar Umesh

2016-01-01

Full Text Available With a large output of medical literature coming out every year, it is impossible for readers to read every article. Critical appraisal of scientific literature is an important skill to be mastered not only by academic medical professionals but also by those involved in clinical practice. Before incorporating changes into the management of their patients, a thorough evaluation of the current or published literature is an important step in clinical practice. It is necessary for assessing the published literature for its scientific validity and generalizability to the specific patient community and reader′s work environment. Simple steps have been provided by Consolidated Standard for Reporting Trial statements, Scottish Intercollegiate Guidelines Network and several other resources which if implemented may help the reader to avoid reading flawed literature and prevent the incorporation of biased or untrustworthy information into our practice.

Gender Ratio in a Clinical Population Sample, Age of Diagnosis and Duration of Assessment in Children and Adults with Autism Spectrum Disorder

Science.gov (United States)

Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O'Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah; Murray, Aja

2016-01-01

This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish…

Authentication systems for securing clinical documentation workflows. A systematic literature review.

Science.gov (United States)

Schwartze, J; Haarbrandt, B; Fortmeier, D; Haux, R; Seidel, C

2014-01-01

Integration of electronic signatures embedded in health care processes in Germany challenges health care service and supply facilities. The suitability of the signature level of an eligible authentication procedure is confirmed for a large part of documents in clinical practice. However, the concrete design of such a procedure remains unclear. To create a summary of usable user authentication systems suitable for clinical workflows. A Systematic literature review based on nine online bibliographic databases. Search keywords included authentication, access control, information systems, information security and biometrics with terms user authentication, user identification and login in title or abstract. Searches were run between 7 and 12 September 2011. Relevant conference proceedings were searched manually in February 2013. Backward reference search of selected results was done. Only publications fully describing authentication systems used or usable were included. Algorithms or purely theoretical concepts were excluded. Three authors did selection independently. DATA EXTRACTION AND ASSESSMENT: Semi-structured extraction of system characteristics was done by the main author. Identified procedures were assessed for security and fulfillment of relevant laws and guidelines as well as for applicability. Suitability for clinical workflows was derived from the assessments using a weighted sum proposed by Bonneau. Of 7575 citations retrieved, 55 publications meet our inclusion criteria. They describe 48 different authentication systems; 39 were biometric and nine graphical password systems. Assessment of authentication systems showed high error rates above European CENELEC standards and a lack of applicability of biometric systems. Graphical passwords did not add overall value compared to conventional passwords. Continuous authentication can add an additional layer of safety. Only few systems are suitable partially or entirely for use in clinical processes. Suitability

Geographical and genetic factors do not account for significant differences in the clinical spectrum of giant cell arteritis in southern europe.

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Gonzalez-Gay, Miguel A; Boiardi, Luigi; Garcia-Porrua, Carlos; Macchioni, Pierluigi; Amor-Dorado, Juan C; Salvarani, Carlo

2004-03-01

To investigate whether genetic and geographical differences may influence the clinical spectrum of giant cell arteritis (GCA), we compared the demographic and clinical features of patients with biopsy-proven GCA from Reggio Emilia (Northern Italy) and Lugo (Northwest Spain) during a 15-year period. We performed a retrospective review of the case records of all patients diagnosed with biopsy-proven GCA at Hospital Xeral-Calde (Lugo, Spain) and Hospital Santa Maria Nuova (Reggio Emilia, Italy) between 1 January 1986 and 31 December 2001. Both hospitals are the only referral centers for populations living in central Galicia and central Emilia Romagna, respectively. During the period of study, 194 Lugo residents and 126 Reggio Emilia residents were diagnosed with biopsy proven GCA. Reggio Emilia patients were more likely to be female (74% vs 54%; p = 0.0001). Although Lugo patients complained of headache (86%) more commonly than did those from Reggio Emilia (77%), the difference was only marginally significant (p = 0.05). The proportion of patients with visual manifestations or visual loss was remarkably similar (22% for visual manifestations and 17% for visual loss in Lugo and 29% and 21% for Reggio Emilia residents). The mean erythrocyte sedimentation rate prior to the onset of therapy was also similar. Apart from differences in sex, the clinical spectrum of GCA in these 2 Southern European regions was similar.

Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

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Wheeler, Anne C; Sacco, Patricia; Cabo, Raquel

2017-10-16

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support. The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

Science.gov (United States)

Nagamani, Sandesh Chakravarthy Sreenath; Erez, Ayelet; Shen, Joseph; Li, Chumei; Roeder, Elizabeth; Cox, Sarah; Karaviti, Lefkothea; Pearson, Margret; Kang, Sung-Hae L; Sahoo, Trilochan; Lalani, Seema R; Stankiewicz, Pawel; Sutton, V Reid; Cheung, Sau Wai

2010-03-01

Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.

Oral Lichen Planus: Clinical Features, Etiology, Treatment and Management; A Review of Literature

Directory of Open Access Journals (Sweden)

Marzieh Boorghani

2010-03-01

Full Text Available Lichen planus is a chronic inflammatory mucocutaneous disease. Mucosal lesions are classified into six clinical forms and there is malignant potential for two forms of OLP; therefore, follow-up should be considered. There are many unestablished etiological factors for OLP and some different treatment modalities are based on etiology. The aims of current OLP therapy are to eliminate mucosal erythema and ulceration, alleviate symptoms and reduce the risk of oral cancer. We have used review papers, case reports, cohort studies, and case-and-control studies published from 1985 to 2010 to prepare this review of literature.

Automatic Decision Support for Clinical Diagnostic Literature Using Link Analysis in a Weighted Keyword Network.

Science.gov (United States)

Li, Shuqing; Sun, Ying; Soergel, Dagobert

2017-12-23

We present a novel approach to recommending articles from the medical literature that support clinical diagnostic decision-making, giving detailed descriptions of the associated ideas and principles. The specific goal is to retrieve biomedical articles that help answer questions of a specified type about a particular case. Based on the filtered keywords, MeSH(Medical Subject Headings) lexicon and the automatically extracted acronyms, the relationship between keywords and articles was built. The paper gives a detailed description of the process of by which keywords were measured and relevant articles identified based on link analysis in a weighted keywords network. Some important challenges identified in this study include the extraction of diagnosis-related keywords and a collection of valid sentences based on the keyword co-occurrence analysis and existing descriptions of symptoms. All data were taken from medical articles provided in the TREC (Text Retrieval Conference) clinical decision support track 2015. Ten standard topics and one demonstration topic were tested. In each case, a maximum of five articles with the highest relevance were returned. The total user satisfaction of 3.98 was 33% higher than average. The results also suggested that the smaller the number of results, the higher the average satisfaction. However, a few shortcomings were also revealed since medical literature recommendation for clinical diagnostic decision support is so complex a topic that it cannot be fully addressed through the semantic information carried solely by keywords in existing descriptions of symptoms. Nevertheless, the fact that these articles are actually relevant will no doubt inspire future research.

Susceptibility pattern of extended spectrum beta-lactamase producing isolates in various clinical specimens

International Nuclear Information System (INIS)

Roshan, M.

2011-01-01

Objective: To determine the susceptibility pattern of extended spectrum beta-lactamase (ESBL) producing Gram negative isolates from various clinical specimens. Study Design: Descriptive study. Place and Duration of Study: Microbiology Department, Armed Forces Institute of Pathology, Rawalpindi, from January 2008 to January 2009. Methodology: A total of 308 ESBL producing isolates from various clinical specimens sent to AFIP for culture and sensitivity were identified using standard microbiological techniques and tested for antimicrobial susceptibility. At the same time screening for ESBL production was also done. ESBL production was confirmed by combination disc synergy method. The susceptibility pattern of isolates was then recorded in frequency percentages. Results: Out of the 308 ESBL producing isolates more than 99% were susceptible to carbapenems, 84% to tazobactam/ piperacillin, 81% to sulbactam/cefoperazone, 12% to fluoroquinolones, 13% to cotrimoxazole, 59% to amikacin and 18% to gentamicin. Among the urinary isolates 49% were susceptible to Nitrofurontoin and only 5% to Pipemidic acid. Conclusion: Antibiotic choices in case of ESBL producing isolates are limited and at present only carbapenems can be regarded as treatment of choice. As empirical agents, beta-lactam/beta lactamase inhibitor combinations should be used cautiously for serious infections. Fluoroquinolones showed very poor efficacy. Amikacin can be used alternatively in such cases. Nitrofurantoin is still a good oral agent for treating UTI. (author)

Psoriasis or not? Review of 51 clinically confirmed cases reveals an expanded histopathologic spectrum of psoriasis.

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Chau, Thinh; Parsi, Kory K; Ogawa, Toru; Kiuru, Maija; Konia, Thomas; Li, Chin-Shang; Fung, Maxwell A

2017-12-01

Psoriasis is usually diagnosed clinically, so only non-classic or refractory cases tend to be biopsied. Diagnostic uncertainty persists when dermatopathologists encounter features regarded as non-classic for psoriasis. Define and document classic and non-classic histologic features in skin biopsies from patients with clinically confirmed psoriasis. Minimal clinical diagnostic criteria were informally validated and applied to a consecutive series of biopsies histologically consistent with psoriasis. Clinical confirmation required 2 of the following criteria: (1) classic morphology, (2) classic distribution, (3) nail pitting, and (4) family history, with #1 and/or #2 as 1 criterion in every case RESULTS: Fifty-one biopsies from 46 patients were examined. Classic features of psoriasis included hypogranulosis (96%), club-shaped rete ridges (96%), dermal papilla capillary ectasia (90%), Munro microabscess (78%), suprapapillary plate thinning (63%), spongiform pustules (53%), and regular acanthosis (14%). Non-classic features included irregular acanthosis (84%), junctional vacuolar alteration (76%), spongiosis (76%), dermal neutrophils (69%), necrotic keratinocytes (67%), hypergranulosis (65%), neutrophilic spongiosis (61%), dermal eosinophils (49%), compact orthokeratosis (37%), papillary dermal fibrosis (35%), lichenoid infiltrate (25%), plasma cells (16%), and eosinophilic spongiosis (8%). Psoriasis exhibits a broader histopathologic spectrum. The presence of some non-classic features does not necessarily exclude the possibility of psoriasis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

TEM-187, a new extended-spectrum β-lactamase with weak activity in a Proteus mirabilis clinical strain.

Science.gov (United States)

Corvec, Stéphane; Beyrouthy, Racha; Crémet, Lise; Aubin, Guillaume Ghislain; Robin, Frédéric; Bonnet, Richard; Reynaud, Alain

2013-05-01

A Proteus mirabilis clinical strain (7001324) was isolated from urine sample of a patient hospitalized in a long-term-care facility. PCR and cloning experiments performed with this strain identified a novel TEM-type β-lactamase (TEM-187) differing by four amino acid substitutions (Leu21Phe, Arg164His, Ala184Val, and Thr265Met) from TEM-1. This characterization provides further evidence for the diversity of extended-spectrum β-lactamases (ESBL) produced by P. mirabilis and for their potential spread to other Enterobacteriaceae due to a lack of sensitive detection methods used in daily practice.

[Acute neonatal suppurative parotiditis: about three clinical cases and review of the literature].

Science.gov (United States)

Isfaoun, Zineb; Radouani, Mohammed Amine; Azzaoui, Sihame; Knouni, Houria; Aguenaou, Hassan; Barkat, Amina

2016-01-01

The following case study reports three cases of neonatal bacterial parotiditis observed over a period of seven months. Diagnosis is often based on patient's clinical features: they typically include hyperthermia, swelling, erythema, warmth as well as local tenderness and purulent discharge at Stensen duct during the massage of the parotid. The clinical diagnosis is confirmed by ultrasound and by culture of parotid purulent secretion. They are mainly of nosocomial origin and are generally caused by prematurity and dehydration. Early treatment improves patient outcome. Risk factors such as age should lead clinicians to start empiric antibiotic therapy first and then antibiotic therapy based on direct examination of pus extracted from Stensen duct. Staphylococcus aureus, Streptococcus Viridans and anaerobic germs are most commonly isolated. Acute parotiditis are extremely rare in the neonatal period: less than 50 cases have been reported in the literature. We here report three rather peculiar cases. The diagnosis was suspected on the basis of signs of local inflammation.

Clinical spectrum and outcome of pulmonary nocardiosis: 5-year experience

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Akashdeep Singh

2016-01-01

Full Text Available Background: Pulmonary nocardiosis is a rare but a life-threatening infection caused by Nocardia spp. The diagnosis is often missed and delayed resulting in delay in appropriate treatment and thus higher mortality. Aim: In this study, we aim to evaluate the clinical spectrum and outcome of patients with pulmonary nocardiosis. Methods: A retrospective, 5-year (2009-2014 review of demographic profile, risk factors, clinical manifestations, imaging findings, treatment, and outcome of patients with pulmonary nocardiosis admitted to a tertiary care hospital. Results: The median age of the study subjects was 54 years (range, 16-76 and majority of them (75% were males. The risk factors for pulmonary nocardiosis identified in our study were long-term steroid use (55.6%, chronic lung disease (52.8%, diabetes (27.8%, and solid-organ transplantation (22.2%. All the patients were symptomatic, and the most common symptoms were cough (91.7%, fever (78%, and expectoration (72%. Almost two-third of the patients were initially misdiagnosed and the alternative diagnosis included pulmonary tuberculosis (n = 7, community-acquired pneumonia (n = 5, lung abscess (n = 4, invasive fungal infection (n = 3, lung cancer (n = 2, and Wegener′s granulomatosis (n = 2. The most common radiographic features were consolidation (77.8% and nodules (56%. The mortality rate for indoor patients was 33% despite treatment. Higher mortality rate was observed among those who had brain abscess (100.0%, HIV positivity (100%, need for mechanical ventilation (87.5%, solid-organ transplantation (50%, and elderly (age > 60 years patients (43%. Conclusion: The diagnosis of pulmonary nocardiosis is often missed and delayed resulting in delay in appropriate treatment and thus high mortality. A lower threshold for diagnosing pulmonary nocardiosis needs to be exercised, in chest symptomatic patients with underlying chronic lung diseases or systemic immunosuppression, for the early diagnosis, and

Clinical spectrum of silver - Russell syndrome

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Sapna N.K. Varma

2013-01-01

Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

Clinical outcome of pediatric collagenous gastritis: case series and review of literature.

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Hijaz, Nadia Mazen; Septer, Seth Steven; Degaetano, James; Attard, Thomas Mario

2013-03-07

Collagenous gastritis (CG) is characterized by patchy subepithelial collagen bands. Effective treatment and the clinical and histological outcome of CG in children are poorly defined. The aim of this study is to summarize the published literature on the clinical outcome and response to therapy of pediatric CG including two new cases. We performed a search in Pubmed, OVID for related terms; articles including management and clinical and/or endo-histologic follow up information were included and abstracted. Reported findings were pooled in a dedicated database including the corresponding data extracted from chart review in our patients with CG. Twenty-four patients were included (17 females) with a mean age of 11.7 years. The clinical presentation included iron deficiency anemia and dyspepsia. The reported duration of follow up (in 18 patients) ranged between 0.2-14 years. Despite most subjects presenting with anemia including one requiring blood transfusion, oral iron therapy was only documented in 12 patients. Other treatment modalities were antisecretory measures in 13 patients; proton pump inhibitors (12), or histamine-2 blockers (3), sucralfate (5), prednisolone (6), oral budesonide in 3 patients where one received it in fish oil and triple therapy (3). Three (13%) patients showed no clinical improvement despite therapy; conversely 19 out of 22 were reported with improved symptoms including 8 with complete symptom resolution. Spontaneous clinical resolution without antisecretory, anti-inflammatory or gastroprotective agents was noted in 5 patients (4 received only supplemental iron). Follow up endo-histopathologic data (17 patients) included persistent collagen band and stable Mononuclear cell infiltrate in 12 patients with histopathologic improvement in 5 patients. Neither collagen band thickness nor mononuclear cell infiltrate correlated with clinical course. Intestinal metaplasia and endocrine cell hyperplasia were reported (1) raising the concern of long

Examining the Echolalia Literature: Where Do Speech-Language Pathologists Stand?

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Stiegler, Lillian N

2015-11-01

Echolalia is a common element in the communication of individuals with autism spectrum disorders. Recent contributions to the literature reflect significant disagreement regarding how echolalia should be defined, understood, and managed. The purpose of this review article is to give speech-language pathologists and others a comprehensive view of the available perspectives on echolalia. Published literature from the disciplines of behavioral intervention, linguistics, and speech-language intervention is discussed. Special areas of focus include operational definitions, rationales associated with various approaches, specific procedures used to treat or study echolalic behavior, and reported conclusions. Dissimilarities in the definition and understanding of echolalia have led to vastly different approaches to management. Evidence-based practice protocols are available to guide speech-language interventionists in their work with individuals with autism spectrum disorders.

Study of the environmental neutron spectrum at Zacatecas city

International Nuclear Information System (INIS)

Vega C, H.R.

2003-01-01

The environmental neutron spectrum has been measured at Zacatecas City in Mexico. Neutron spectrum was unfolded from count rates obtained with a multisphere neutron spectrometer with a Li I(Eu) scintillator. With the spectrum information the ambient dose equivalent and the isotropic effective dose were calculated. A model based upon the geomagnetic latitude and the altitude above sea level, that allows to estimate the neutron fluence rate is proposed, the model results are compared with total neutron fluences measured at several locations worldwide. Environmental neutron spectrum shows peaks at 1 and 100 MeV as well as a relevant amount of low energy neutrons. The neutron fluence rate was 65 ± 3 cm -2 -h -1 , producing 13.7 ± 0.6 n Sv-h -1 due to ambient dose equivalent rate and an isotropic effective dose rate of 14.1 ± 0.6 n Sv-h -1 . Neutron fluence rates predicted with the model are in agreement with those reported in the literature. (Author)

Study of the environmental neutron spectrum at Zacatecas city

Energy Technology Data Exchange (ETDEWEB)

Vega C, H.R. [Universidad Autonoma de Zacatecas, Cuerpo Academico de Radiobiologia, A.P. 336, 98000 Zacatecas (Mexico)

2003-07-01

The environmental neutron spectrum has been measured at Zacatecas City in Mexico. Neutron spectrum was unfolded from count rates obtained with a multisphere neutron spectrometer with a Li I(Eu) scintillator. With the spectrum information the ambient dose equivalent and the isotropic effective dose were calculated. A model based upon the geomagnetic latitude and the altitude above sea level, that allows to estimate the neutron fluence rate is proposed, the model results are compared with total neutron fluences measured at several locations worldwide. Environmental neutron spectrum shows peaks at 1 and 100 MeV as well as a relevant amount of low energy neutrons. The neutron fluence rate was 65 {+-} 3 cm{sup -2}-h{sup -1}, producing 13.7 {+-} 0.6 n Sv-h{sup -1} due to ambient dose equivalent rate and an isotropic effective dose rate of 14.1 {+-} 0.6 n Sv-h{sup -1}. Neutron fluence rates predicted with the model are in agreement with those reported in the literature. (Author)

Parental attitudes towards the education of children with autism spectrum disorder

OpenAIRE

Kubínová, Michaela

2017-01-01

This diploma thesis provide a comprehensive list of information about the attitudes of parents towards education of children with autism spectrum disorders. The aim of this thesis is to determine how the parents receive a diagnosis of autism of their children and how they determine the access to education for their children as well. The theoretical part is based on literature, there are defined basic information about autism spectrum disorder, division of autism, causes symptoms of autism and...

Number needed to treat (NNT) in clinical literature: an appraisal.

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Mendes, Diogo; Alves, Carlos; Batel-Marques, Francisco

2017-06-01

The number needed to treat (NNT) is an absolute effect measure that has been used to assess beneficial and harmful effects of medical interventions. Several methods can be used to calculate NNTs, and they should be applied depending on the different study characteristics, such as the design and type of variable used to measure outcomes. Whether or not the most recommended methods have been applied to calculate NNTs in studies published in the medical literature is yet to be determined. The aim of this study is to assess whether the methods used to calculate NNTs in studies published in medical journals are in line with basic methodological recommendations. The top 25 high-impact factor journals in the "General and/or Internal Medicine" category were screened to identify studies assessing pharmacological interventions and reporting NNTs. Studies were categorized according to their design and the type of variables. NNTs were assessed for completeness (baseline risk, time horizon, and confidence intervals [CIs]). The methods used for calculating NNTs in selected studies were compared to basic methodological recommendations published in the literature. Data were analyzed using descriptive statistics. The search returned 138 citations, of which 51 were selected. Most were meta-analyses (n = 23, 45.1%), followed by clinical trials (n = 17, 33.3%), cohort (n = 9, 17.6%), and case-control studies (n = 2, 3.9%). Binary variables were more common (n = 41, 80.4%) than time-to-event (n = 10, 19.6%) outcomes. Twenty-six studies (51.0%) reported only NNT to benefit (NNTB), 14 (27.5%) reported both NNTB and NNT to harm (NNTH), and 11 (21.6%) reported only NNTH. Baseline risk (n = 37, 72.5%), time horizon (n = 38, 74.5%), and CI (n = 32, 62.7%) for NNTs were not always reported. Basic methodological recommendations to calculate NNTs were not followed in 15 studies (29.4%). The proportion of studies applying non-recommended methods was

The relationship between carers' report of autistic traits and clinical diagnoses of autism spectrum disorders in adults with intellectual disability.

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Bhaumik, Sabyasachi; Tyrer, Freya; Barrett, Mary; Tin, Nyunt; McGrother, Catherine W; Kiani, Reza

2010-01-01

It is often difficult to determine the triad of impairments and whether autistic features are the consequence of intellectual impairment or autism spectrum disorders in people with intellectual disability (ID). The aim of the current study was to investigate the relationship between carer-reported autistic traits and independent diagnoses of autism spectrum disorders (ASD). Data were collected on carers' subjective report of autistic traits and clinical diagnoses of ASD. Of 1145 adults with ID identified, 220 (19%) individuals had a diagnosis of ASD, and 778 (68%) individuals had at least one autistic trait. Optimal sensitivity and specificity were achieved with two or more autistic traits (sensitivity 63%; specificity 79%) and the positive predictive value increased substantially as the number of autistic traits increased. However, a significant proportion of individuals with ID who did not have a diagnosis of ASD also displayed autistic traits. Our findings suggest that in the absence of other measures, the presence of autistic traits can serve as a useful proxy measure for ASD in research (and/or clinical settings). However, although information on autistic traits may help healthcare practitioners to identify people with possible ASD, it cannot be used alone to make a formal diagnosis. 2010 Elsevier Ltd. All rights reserved.

Clinical and imaging characteristics and autoantibody analysis of neuromyelitis optica spectrum disorders

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Nan LIU

2014-09-01

Full Text Available Objective To observe the clinical and imaging characteristics and the changes of autoimmune antibodies in the serum and cerebrospinal fluid (CSF of patients with neuromyelitis optica spectrum disorders (NMOSDs.  Methods The data of 10 patients with NMOSDs in Aviation General Hospital of China Medical University from January 2011 to June 2014 were collected. The clinical and imaging features were retrospectively reviewed, and NMO-IgG in serum and CSF, anti-nuclear antibody (ANA, homocysteine (Hcy and thyroid function were analyzed.  Results Cranial and spinal MRI of these patients showed that brain stem was involved in 3 cases, cervical cord in 3 cases, thoracic cord in 6 cases, and cervical-thoracic cord in one case. Serum NMO-IgG were tested in 8 cases, among whom 3 patients were positive (3/8 and 5 were negative (5/8. ANA was positive in one case (1/3, and thyroglobulin (TG antibody and thyroid peroxidase (TPO antibody were positive in 2 cases (2/3. Hypothyroidism occured in 2 cases, hyperthyroidism occured in one case, and Hcy rised in 2 cases.  Conclusions NMOSDs frequently occur in young and middle-aged women. Patients who were highly suspected with NMOSDs should receive tests of autoimmune antibodies in the serum and CSF, and cranial and spinal MRI examination, in order to make a definite diagnosis and receive appropriate treatment. Retesting the autoimmune antibodies should be done in catabasis, in order to identify the relationship between autoimmune antibodies and NMOSDs. doi: 10.3969/j.issn.1672-6731.2014.09.010

Fetal phenotypes in otopalatodigital spectrum disorders.

Science.gov (United States)

Naudion, S; Moutton, S; Coupry, I; Sole, G; Deforges, J; Guerineau, E; Hubert, C; Deves, S; Pilliod, J; Rooryck, C; Abel, C; Le Breton, F; Collardeau-Frachon, S; Cordier, M P; Delezoide, A L; Goldenberg, A; Loget, P; Melki, J; Odent, S; Patrier, S; Verloes, A; Viot, G; Blesson, S; Bessières, B; Lacombe, D; Arveiler, B; Goizet, C; Fergelot, P

2016-03-01

Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Spectrum of perforation peritonitis in India--review of 504 consecutive cases.

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Jhobta, Rajender Singh; Attri, Ashok Kumar; Kaushik, Robin; Sharma, Rajeev; Jhobta, Anupam

2006-09-05

Perforation peritonitis is the most common surgical emergency in India. The spectrum of etiology of perforation in Tropical countries continues to be different from its Western counterpart. The objective of the study was to highlight the spectrum of perforation peritonitis as encountered by us at Government Medical College and Hospital (GMCH), Chandigarh. Five hundred and four consecutive cases of perforation peritonitis over a period of five years were reviewed in terms of clinical presentation, operative findings and postoperative course retrospectively at GMCH, Chandigarh. The most common cause of perforation in our series was perforated duodenal ulcer (289 cases) followed by appendicitis (59 cases), gastrointestinal perforation due to blunt trauma abdomen (45 cases), typhoid fever (41 cases) and tuberculosis (20 cases). Despite delay in seeking medical treatment (53%), the overall mortality (10%) was favourably comparable with other published series though the overall morbidity (50%) was unusually high. In contrast to western literature, where lower gastrointestinal tract perforations predominate, upper gastrointestinal tract perforations constitute the majority of cases in India. The increasing incidence of post-traumatic gastro-enteric injuries may be due to an increase in high speed motor vehicle accidents which warrant early recognition and prompt treatment to avoid serious complications and death.

Spectrum of perforation peritonitis in India-review of 504 consecutive cases

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Sharma Rajeev

2006-09-01

Full Text Available Abstract Background/objective Perforation peritonitis is the most common surgical emergency in India. The spectrum of etiology of perforation in Tropical countries continues to be different from its Western counterpart. The objective of the study was to highlight the spectrum of perforation peritonitis as encountered by us at Government Medical College and Hospital (GMCH, Chandigarh. Methods Five hundred and four consecutive cases of perforation peritonitis over a period of five years were reviewed in terms of clinical presentation, operative findings and postoperative course retrospectively at GMCH, Chandigarh. Results The most common cause of perforation in our series was perforated duodenal ulcer (289 cases followed by appendicitis (59 cases, gastrointestinal perforation due to blunt trauma abdomen (45 cases, typhoid fever (41 cases and tuberculosis (20 cases. Despite delay in seeking medical treatment (53%, the overall mortality (10% was favourably comparable with other published series though the overall morbidity (50% was unusually high. Conclusion In contrast to western literature, where lower gastrointestinal tract perforations predominate, upper gastrointestinal tract perforations constitute the majority of cases in India. The increasing incidence of post-traumatic gastro-enteric injuries may be due to an increase in high speed motor vehicle accidents which warrant early recognition and prompt treatment to avoid serious complications and death.

Siblings of Youth with Autism Spectrum Disorders: Theoretical Perspectives on Sibling Relationships and Individual Adjustment

Science.gov (United States)

McHale, Susan M.; Updegraff, Kimberly A.; Feinberg, Mark E.

2016-01-01

A burgeoning research literature investigates the sibling relationships of youth with autism spectrum disorder (ASD) and their implications for individual adjustment. Focusing on four relationship domains--behaviors, emotions, cognitions and involvement--and toward advancing this generally atheoretical literature, we review and apply tenets from a…

Noninvasive hemoglobin measurement using dynamic spectrum

Science.gov (United States)

Yi, Xiaoqing; Li, Gang; Lin, Ling

2017-08-01

Spectroscopy methods for noninvasive hemoglobin (Hgb) measurement are interfered by individual difference and particular weak signal. In order to address these problems, we have put forward a series of improvement methods based on dynamic spectrum (DS), including instrument design, spectrum extraction algorithm, and modeling approach. The instrument adopts light sources composed of eight laser diodes with the wavelength range from 600 nm to 1100 nm and records photoplethysmography signals at eight wavelengths synchronously. In order to simplify the optical design, we modulate the light sources with orthogonal square waves and design the corresponding demodulation algorithm, instead of adopting a beam-splitting system. A newly designed algorithm named difference accumulation has been proved to be effective in improving the accuracy of dynamic spectrum extraction. 220 subjects are involved in the clinical experiment. An extreme learning machine calibration model between the DS data and the Hgb levels is established. Correlation coefficient and root-mean-square error of prediction sets are 0.8645 and 8.48 g/l, respectively. The results indicate that the Hgb level can be derived by this approach noninvasively with acceptable precision and accuracy. It is expected to achieve a clinic application in the future.

Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study.

Science.gov (United States)

Costa, Nayara Thais de Oliveira; Martinho-Carvalho, Ana Claudia; Cunha, Maria Claudia; Lewis, Doris Ruthi

2012-01-01

This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.

What Cities Enclose: A Geoliterary Approach to World Literature

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Mitzi E. Martínez Guerrero

2017-10-01

Full Text Available After its reappearance on the literary scope, world literature has become such an inevitable paradigm in contemporary reflections, that, as expressed by Theo D’Haen (2012, “no other approach to literary studies has known as spectacular a success in the new millennium”. Paradoxically, this has also caused an entrance into an ongoing cycle of metadiscursive reformulation, which has distanced the concept from its own definition, methodology and boundaries. Towards grasping world literature spectrum, the present proposal encompasses certain theoretical notions around 21st century literature, by following the representation of urban space in The Museum of Innocence (Orhan Pamuk and Jerusalém (Gonçalo M. Tavares as samples for contemporary concerns seen from a geoliterary angle.   Keywords: urban space; world literature; city; geoliterature; contemporary literature; semi-periphery.

A systematic literature search to identify performance measure outcomes used in clinical studies of racehorses.

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Wylie, C E; Newton, J R

2018-05-01

Racing performance is often used as a measurable outcome variable in research studies investigating clinical diagnoses or interventions. However, the use of many different performance measures largely precludes conduct of meaningful comparative studies and, to date, those being used have not been collated. To systematically review the veterinary scientific literature for the use of racing performance as a measurable outcome variable in clinical studies of racehorses, collate and identify those most popular, and identify their advantages and disadvantages. Systematic literature search. The search criteria "((racing AND performance) AND (horses OR equidae))" were adapted for both MEDLINE and CAB Abstracts databases. Data were collected in standardised recording forms for binary, categorical and quantitative measures, and the use of performance indices. In total, 217 studies that described racing performance were identified, contributing 117 different performance measures. No one performance measure was used in all studies, despite 90.3% using more than one variable. Data regarding race starts and earnings were used most commonly, with 88.0% and 54.4% of studies including at least one measure of starts and earnings, respectively. Seventeen variables were used 10 times or more, with the top five comprising: 'return to racing', 'number of starts', 'days to first start', 'earnings per period of time' and 'earnings per start'. The search strategies may not have identified all relevant papers, introducing bias to the review. Performance indices have been developed to improve assessment of interventions; however, they are not widely adopted in the scientific literature. Use of the two most commonly identified measures, whether the horse returned to racing and number of starts over a defined period of time, would best facilitate future systematic reviews and meta-analyses in advance of the development of a gold-standard measure of race performance outcome. © 2017 EVJ Ltd.

Clinical Application of the PES/WES Index on Natural Teeth: Case Report and Literature Review

OpenAIRE

Lanza, Alessandro; Di Francesco, Fabrizio; De Marco, Gennaro; Femiano, Felice; Itro, Angelo

2017-01-01

The use of reliable indices to evaluate the aesthetic outcomes in the aesthetic area is an important and objective clinical aid to monitor the results over time. According to the literature various indices were proposed to evaluate aesthetic outcomes of implant-prosthetic rehabilitation of the anterior area like Peri-Implant and Crown Index [PICI], Implant Crown Aesthetic Index [ICAI], Pink Esthetic Score/White Esthetic Score [PES/WES], and Pink Esthetic Score [PES] but none of them was relat...

Unique and Overlapping Symptoms in Schizophrenia Spectrum and Dissociative Disorders in Relation to Models of Psychopathology: A Systematic Review

Science.gov (United States)

Renard, Selwyn B.; Huntjens, Rafaele J. C.; Lysaker, Paul H.; Moskowitz, Andrew; Aleman, André; Pijnenborg, Gerdina H. M.

2017-01-01

Schizophrenia spectrum disorders (SSDs) and dissociative disorders (DDs) are described in the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) and tenth edition of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) as 2 categorically distinct diagnostic categories. However, several studies indicate high levels of co-occurrence between these diagnostic groups, which might be explained by overlapping symptoms. The aim of this systematic review is to provide a comprehensive overview of the research concerning overlap and differences in symptoms between schizophrenia spectrum and DDs. For this purpose the PubMed, PsycINFO, and Web of Science databases were searched for relevant literature. The literature contained a large body of evidence showing the presence of symptoms of dissociation in SSDs. Although there are quantitative differences between diagnoses, overlapping symptoms are not limited to certain domains of dissociation, nor to nonpathological forms of dissociation. In addition, dissociation seems to be related to a history of trauma in SSDs, as is also seen in DDs. There is also evidence showing that positive and negative symptoms typically associated with schizophrenia may be present in DD. Implications of these results are discussed with regard to different models of psychopathology and clinical practice. PMID:27209638

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Science.gov (United States)

Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

2017-05-01

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be

Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

Science.gov (United States)

Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan GM

2016-01-01

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. PMID:26802113

PREVALENCE OF EXTENDED SPECTRUM β-LACTAMASES ...

African Journals Online (AJOL)

DR. AMINU

ABSTRACT. Confirmed variants of enterobacteriaceae isolated from 143 patients that attended Murtala. Mohammed Specialist Hospital Kano, were screened for extended spectrum β-lactamases (ESBLs) production using Clinical Laboratory Standards Institute (CLSI) breakpoint. Suspected ESBLs producers were ...

Solitary Laryngeal Metastasis from Transitional Cell Carcinoma of the Kidney: Clinical Case and Review of the Literature

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Tarek Assi

2015-01-01

Full Text Available The urogenital tract is a rare origin of laryngeal metastasis; transitional cell carcinoma with laryngeal metastases had never been reported previously. In this paper, we describe the clinical and pathological characteristics, evolution, and treatment of the first reported case of a laryngeal metastasis of a TCC followed by a brief review of the literature.

Empowerment an essential ingredient in the clinical environment: a review of the literature.

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Kennedy, Sara; Hardiker, Nicholas; Staniland, Karen

2015-03-01

Empowerment is an important concept worthy of attention in healthcare. The merits of empowerment are irrefutable including benefits to the organisation and to the individual nurse. Empowered nurses contribute to the clinical learning environment in a positive way. There is a dearth of literature on how or indeed if nursing students are empowered. The process of empowering registered staff/nursing students is not clear. Ward environment and culture are important contributors to patient care, patient safety and staff well-being. It is therefore necessary to address how empowerment can contribute positively to improving the environment in which care is provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

Multicarrier Spread Spectrum Modulation Schemes and Efficient FFT Algorithms for Cognitive Radio Systems

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Mohandass Sundararajan

2014-07-01

Full Text Available Spread spectrum (SS and multicarrier modulation (MCM techniques are recognized as potential candidates for the design of underlay and interweave cognitive radio (CR systems, respectively. Direct Sequence Code Division Multiple Access (DS-CDMA is a spread spectrum technique generally used in underlay CR systems. Orthogonal Frequency Division Multiplexing (OFDM is the basic MCM technique, primarily used in interweave CR systems. There are other MCM schemes derived from OFDM technique, like Non-Contiguous OFDM, Spread OFDM, and OFDM-OQAM, which are more suitable for CR systems. Multicarrier Spread Spectrum Modulation (MCSSM schemes like MC-CDMA, MC-DS-CDMA and SS-MC-CDMA, combine DS-CDMA and OFDM techniques in order to improve the CR system performance and adaptability. This article gives a detailed survey of the various spread spectrum and multicarrier modulation schemes proposed in the literature. Fast Fourier Transform (FFT plays a vital role in all the multicarrier modulation techniques. The FFT part of the modem can be used for spectrum sensing. The performance of the FFT operator plays a crucial role in the overall performance of the system. Since the cognitive radio is an adaptive system, the FFT operator must also be adaptive for various input/output values, in order to save energy and time taken for execution. This article also includes the various efficient FFT algorithms proposed in the literature, which are suitable for CR systems.

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

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Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk

2016-09-01

Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C , USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted NGS of ten known USH genes. Five novel pathogenic variants were identified. We combined our data with previously published, and obtained an overview of the USH mutation spectrum in Denmark, including 100 unrelated individuals; 32 with USH1, 67 with USH2, and 1 with USH3. Macular edema was observed in 44 of 117 individuals. Olfactory function was tested in 12 individuals and found to be within normal range in all. Mutations that lead to USH1 were predominantly identified in MYO7A (75%), whereas all mutations in USH2 cases were identified in USH2A . The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.(Glu767Serfs*21) variant accounted for 45% of all USH2 mutations in the Danish cohort.

Does Sex Influence the Diagnostic Evaluation of Autism Spectrum Disorder in Adults?

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Wilson, C. Ellie; Murphy, Clodagh M.; McAlonan, Grainne; Robertson, Dene M.; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P. Quinton; Gillan, Nicola; Ohlsen, J. Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C.; Murphy, Declan G. M.

2016-01-01

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1,244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more…

Use of Advanced Magnetic Resonance Imaging Techniques in Neuromyelitis Optica Spectrum Disorder

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Kremer, Stephane; Renard, Felix; Achard, Sophie; Lana-Peixoto, Marco A.; Palace, Jacqueline; Asgari, Nasrin; Klawiter, Eric C.; Tenembaum, Silvia N.; Banwell, Brenda; Greenberg, Benjamin M.; Bennett, Jeffrey L.; Levy, Michael; Villoslada, Pablo; Saiz, Albert; Fujihara, Kazuo; Chan, Koon Ho; Schippling, Sven; Paul, Friedemann; Kim, Ho Jin; de Seze, Jerome; Wuerfel, Jens T.

2016-01-01

Brain parenchymal lesions are frequently observed on conventional magnetic resonance imaging (MRI) scans of patients with neuromyelitis optica (NMO) spectrum disorder, but the specific morphological and temporal patterns distinguishing them unequivocally from lesions caused by other disorders have not been identified. This literature review summarizes the literature on advanced quantitative imaging measures reported for patients with NMO spectrum disorder, including proton MR spectroscopy, diffusion tensor imaging, magnetization transfer imaging, quantitative MR volumetry, and ultrahigh-field strength MRI. It was undertaken to consider the advanced MRI techniques used for patients with NMO by different specialists in the field. Although quantitative measures such as proton MR spectroscopy or magnetization transfer imaging have not reproducibly revealed diffuse brain injury, preliminary data from diffusion-weighted imaging and brain tissue volumetry indicate greater white matter than gray matter degradation. These findings could be confirmed by ultrahigh-field MRI. The use of nonconventional MRI techniques may further our understanding of the pathogenic processes in NMO spectrum disorders and may help us identify the distinct radiographic features corresponding to specific phenotypic manifestations of this disease. PMID:26010909

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

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Sheetal Sharda

2011-01-01

Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

Autism Spectrum Disorders and Sibling Relationships: Research and Strategies

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Beyer, Julia F.

2009-01-01

Significant attention has been paid in the literature to sibling relationships and the effects of birth order, family size, and gender on such relationships. Although these are important areas to study, there is relatively little research on the effects of autism spectrum disorders (ASD) on sibling relationships. The existent research identifies…

Review of guidelines and literature for handling missing data in longitudinal clinical trials with a case study.

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Liu, M; Wei, L; Zhang, J

2006-01-01

Missing data in clinical trials are inevitable. We highlight the ICH guidelines and CPMP points to consider on missing data. Specifically, we outline how we should consider missing data issues when designing, planning and conducting studies to minimize missing data impact. We also go beyond the coverage of the above two documents, provide a more detailed review of the basic concepts of missing data and frequently used terminologies, and examples of the typical missing data mechanism, and discuss technical details and literature for several frequently used statistical methods and associated software. Finally, we provide a case study where the principles outlined in this paper are applied to one clinical program at protocol design, data analysis plan and other stages of a clinical trial.

Longitudinally extensive optic neuritis in neuromyelitis optica spectrum disorder.

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Pula, John H; Kattah, Jorge C; Keung, Bonnie; Wang, Huaping; Daily, Jennifer

2014-10-15

Neuomyelitis optica, sarcoid, and multiple sclerosis can all cause optic neuritis. Further means of distinguishing the causes of optic neuritis among these etiologies would be valuable for the clinician. This is a retrospective, cohort study from a single university based hospital and neuro-ophthalmology clinic. Blinded interpretation of orbit MRIs was performed on patients with acute optic neuritis from multiple sclerosis (n=25), sarcoid (n=5) and neuromyelitis optica spectrum disorder (n=6). A length of >40 mm anterior visual pathway enhancement distinguished neuromyelitis optica spectrum disorder from multiple sclerosis (p=0.0376). No statistically significant differences were found for presence of pain or papillitis, however there was a trend for bilateral involvement and chiasmal involvement in neuromyelitis optica spectrum disorder compared to multiple sclerosis. In acute optic neuritis, enhancing anterior visual pathway lesion length >40 mm helps differentiate neuromyelitis optica spectrum disorder from multiple sclerosis. This degree of involvement can be considered longitudinally extensive optic neuritis. Further characterization is necessary as this degree of enhancement occurs in other clinical syndromes besides neuromyelitis optica. Copyright © 2014 Elsevier B.V. All rights reserved.

Limbic encephalitis: Clinical spectrum and long-term outcome from a developing country perspective

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Sujit Abajirao Jagtap

2014-01-01

Full Text Available Introduction: Limbic encephalitis (LE is characterized by rapidly progressive short-term memory loss, psychiatric symptoms and seizures. We describe the clinical spectrum, underlying etiology and long-term follow-up of patients with LE from India. Materials and Methods: This prospective study included patients during the period of January 2009 and December 2011 with the clinical features consistent with LE with one or more of the following: (1 Magnetic resonance imaging (MRI evidence of temporal lobe involvement; (2 cerebrospinal fluid inflammatory abnormalities, or (3 detection of antineuronal antibodies. Patients with metastasis, infection, metabolic and nutritional deficits, stroke, were excluded. Results: There were 16 patients (9 females, mean age of presentation was 36.6 years (range 15-69 years. The mean duration of symptoms before presentation was 11 months (range 5 days-2 years. The most common symptom at presentation was short-term memory impairment in 7 patients followed by seizures in 5 and behavioral changes in three. Nine patients had seizures, 11 had change in behavior, language involvement in eight, cerebellar features in 3 and autonomic dysfunction in two. Four patients had associated malignancy, 3 of four presented with neurological symptoms and on investigations found to be have malignancy. Antineuronal antibody testing was done in 6 of 12 non paraneoplastic and two paraneoplastic patients, one positive for N-methyl-D-aspartate and one for anti-Hu antibody. MRI brain showed typical fluid attenuated inversion recovery or T2 bilateral temporal lobe hyperintensities in 50% of patients. At a mean follow-up of 21 months (3-36 months, 10 patients improved, 4 patients remained same and two patients expired. Conclusion: Early recognition of LE is important based upon clinical, MRI data in the absence of antineuronal surface antibody screen in developing nations. Early institution of immunotherapy will help in improvement in outcome of

Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type: Review of the Literature

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Indranil Dutta

2011-01-01

Full Text Available Ehlers-Danlos syndrome (EDS is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

THE CLINICAL AND PATHOGENETIC RELATIONSHIP BETWEEN BEHCET'S DISEASE AND MENTAL DISORDERS

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Daria Anatolyevna Ishchenko

2013-01-01

Full Text Available The paper analyzes the results of an investigation into the relationship between Behcet's disease (BB and mental disorders. It establishes the importance of an emotional stress factor for developing the clinical symptoms and disease. In its turn, the systemic immune inflammatory disease and its complications become a source of mental disorders. The literature describes different variants of BB, but anxiety-depressive spectrum disorders and moderate cognitive impairments are most common. The presence of depression contributes significantly to lower quality of life in patients with BB.

The Role of Co-Occurring Disruptive Behavior in the Clinical Presentation of Children and Adolescents with Anxiety in the Context of Autism Spectrum Disorders

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Storch, Eric A.; Arnold, Elysse B.; Jones, Anna M.; Ale, Chelsea M.; Wood, Jeffrey J.; Ehrenreich-May, Jill; Lewin, Adam B.; Mutch, P. Jane; Murphy, Tanya K.

2012-01-01

This study explored the impact of disruptive behavior disorder (DBD) comorbidity on theoretically relevant correlates among 87 children and adolescents with autism spectrum disorders (ASD) and clinically significant anxiety. Relative to youth with ASD and anxiety alone, participants with ASD, anxiety, and DBD: (a) presented with significantly more…

Duodenal Tumor Presenting as Acquired Hemophilia in an 88-Year-Old Woman: A Clinical Case and Review of the Literature

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Nigel P. Murray

2012-01-01

Full Text Available Acquired hemophilia is a rare disease, presenting with severe hemorrhage, we present a case caused by a duodenal tumor, the clinical management, ethical implications, treatment recommendations, and a review of the literature.

Depression and Anxiety During Pregnancy: Evaluating the Literature in Support of Clinical Risk-Benefit Decision-Making.

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Dalke, Katharine Baratz; Wenzel, Amy; Kim, Deborah R

2016-06-01

Depression and anxiety during pregnancy are common, and patients and providers are faced with complex decisions regarding various treatment modalities. A structured discussion of the risks and benefits of options with the patient and her support team is recommended to facilitate the decision-making process. This clinically focused review, with emphasis on the last 3 years of published study data, evaluates the major risk categories of medication treatments, namely pregnancy loss, physical malformations, growth impairment, behavioral teratogenicity, and neonatal toxicity. Nonpharmacological treatment options, including neuromodulation and psychotherapy, are also briefly reviewed. Specific recommendations, drawn from the literature and the authors' clinical experience, are also offered to help guide the clinician in decision-making.

Correlation between clinical performance and degree of conversion of resin cements: a literature review

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Grace DE SOUZA

2015-08-01

Full Text Available AbstractResin-based cements have been frequently employed in clinical practice to lute indirect restorations. However, there are numerous factors that may compromise the clinical performance of those cements. The aim of this literature review is to present and discuss some of the clinical factors that may affect the performance of current resin-based luting systems. Resin cements may have three different curing mechanisms: chemical curing, photo curing or a combination of both. Chemically cured systems are recommended to be used under opaque or thick restorations, due to the reduced access of the light. Photo-cured cements are mainly indicated for translucent veneers, due to the possibility of light transmission through the restoration. Dual-cured are more versatile systems and, theoretically, can be used in either situation, since the presence of both curing mechanisms might guarantee a high degree of conversion (DC under every condition. However, it has been demonstrated that clinical procedures and characteristics of the materials may have many different implications in the DC of currently available resin cements, affecting their mechanical properties, bond strength to the substrate and the esthetic results of the restoration. Factors such as curing mechanism, choice of adhesive system, indirect restorative material and light-curing device may affect the degree of conversion of the cement and, therefore, have an effect on the clinical performance of resin-based cements. Specific measures are to be taken to ensure a higher DC of the luting system to be used.

Brief Report: Autism Spectrum Disorder and Substance Use Disorder: A Review and Case Study

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Rengit, Ashy C.; McKowen, James W.; O'Brien, Julie; Howe, Yamini J.; McDougle, Christopher J.

2016-01-01

There is limited literature available on the comorbidity between autism spectrum disorder (ASD) and substance use disorder (SUD). This paper reviews existing literature and exemplifies the challenges of treating this population with a case report of an adult male with ASD and DSM-5 alcohol use disorder. This review and case study seeks to…

Meta-analysis of Big Five personality traits in autism spectrum disorder.

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Lodi-Smith, Jennifer; Rodgers, Jonathan D; Cunningham, Sara A; Lopata, Christopher; Thomeer, Marcus L

2018-04-01

The present meta-analysis synthesizes the emerging literature on the relationship of Big Five personality traits to autism spectrum disorder. Studies were included if they (1) either (a) measured autism spectrum disorder characteristics using a metric that yielded a single score quantification of the magnitude of autism spectrum disorder characteristics and/or (b) studied individuals with an autism spectrum disorder diagnosis compared to individuals without an autism spectrum disorder diagnosis and (2) measured Big Five traits in the same sample or samples. Fourteen reviewed studies include both correlational analyses and group comparisons. Eighteen effect sizes per Big Five trait were used to calculate two overall effect sizes per trait. Meta-analytic effects were calculated using random effects models. Twelve effects (per trait) from nine studies reporting correlations yielded a negative association between each Big Five personality trait and autism spectrum disorder characteristics (Fisher's z ranged from -.21 (conscientiousness) to -.50 (extraversion)). Six group contrasts (per trait) from six studies comparing individuals diagnosed with autism spectrum disorder to neurotypical individuals were also substantial (Hedges' g ranged from -.88 (conscientiousness) to -1.42 (extraversion)). The potential impact of personality on important life outcomes and new directions for future research on personality in autism spectrum disorder are discussed in light of results.

Conditions and consequences of medical futility--from a literature review to a clinical model.

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Löfmark, R; Nilstun, T

2002-04-01

To present an analysis of "futility" that is useful in the clinical setting. Literature review. According to Medline more than 750 articles have been published about medical futility. Three criteria (language, time period, and the authors expressed their own opinions) singled out 43 of them. The authors' opinions about futility were analysed using the scheme: "If certain conditions are satisfied, then a particular measure is futile" and "If a particular measure is futile, then certain moral consequences are implied". Regarding conditions, most authors stated that judgments about futility should be made by physicians. The measure was usually some kind of medical treatment, and the goals related to quality of life, physiological improvement, or prolongation of life. The probability of success in reaching the goal was in most cases described in semiquantitative terms. Regarding consequences, the authors stated that health care professionals may (sometimes ought or should) withhold or withdraw a futile measure, most often after a dialogue with the patient (29 articles), but sometimes without informing the patient (nine articles), or with one-way information (four articles). Over time more and more articles recommend that the patient should be involved in joint decision making. Based on this literature review a clinical model was developed. The model, requiring that conditions and consequences should be made explicit, may, in "futility situations", facilitate both the collection of the necessary information and make the moral implications visible. It also makes communication about measures considered to be futile possible without using such ambiguous terms as "futile".

Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

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Chacón-Camacho, Oscar; Arce-Gonzalez, Rocio; Granillo-Alvarez, Mariella; Flores-Limas, Sanjuanita; Ramírez, Magdalena; Zenteno, Juan C

2013-12-01

To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly. Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene. Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients. The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

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Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W; van Hoorn, Marion E; Rinne, Tuula; Houweling, Arjan C

2016-07-01

Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A review of the literature to inform a best-practice clinical supervision model for midwifery students in Australia.

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McKellar, Lois; Graham, Kristen

2017-05-01

Effective clinical supervision in midwifery programs leading to registration is essential to ensure that students can provide safe and competent woman centred care by the completion of their program. A number of different clinical supervision models exist in Australia and internationally, with varying levels of support and facilitation of student learning opportunities. In Australia, midwifery students must achieve specified learning outcomes and midwifery practice requirements to be eligible to register as a midwife. Identifying a best practice clinical supervision model for Australian midwifery students is therefore a priority for all key stakeholders, particularly education and maternity care providers. The aim of this literature review was to explore different types of clinical supervision models in order to develop and implement a best practice model in midwifery education programs. Copyright © 2016 Elsevier Ltd. All rights reserved.

Pan coast tumor. Literature review and report of a clinical case

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Vázquez, A.; Terzieff, V.

2004-01-01

A purpose of diagnosis and treatment of 29-year or carrier Pancoast Tumor perform the review of the literature and communicate said case. Material and Methods: We reviewed ten years of literature on the subject, aspects diagnoses, statistical and treatments. Results: pancoast tumor described in 1924 by this author, was reported for the first time in 1838 by Edwin Hare In our Ricaldoni what described at the beginning of last century. Lung tumor origin, located in the upper lobe with infiltration of adjacent structures characterized in the same by infiltration of the first rib, brachial plexus, cervical, and sympathetic system with its peculiar clinical presentation. Is between 1.2 and 5 % Of total CBP in different series for NPC tumors. It is preferred and recommended study by MRI, and eventually transmural puncture mediastinoscopy since N2 lymph node infiltration is worse prognosis than N3. treatment of it has evolved into the Qt-Rt induction prior to surgery, when it is possible to do. He still is in search of drugs and doses more efficient and optimal heating technique. In relation to surgery preferred techniques using block. Discussion: Based on the search for the best treatment, it is directly linked to the study and after staging the patient highlighting the value of preoperative MRI. The platinum-based induction and phasing Rt dose is discussed prioritizing reach 60 Gy or more. We report a case of a 29 years carrier of this disease in stage T4N3M1 in metastatic debut with his bad foreseeable development

Analysis of the production of scientific literature in clinical research areas in Physiotherapy between 2005 and 2009

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Torres-Narváez Martha

2012-04-01

Full Text Available Objective: characterize the behavior of clinical research in Physiotherapy, through the analysis of theproduction of scientific literature in a period of five years in order to identify areas of concentrationand dispersion, collaborative research and types of clinical studies have conducted. Methods andmaterials: descriptive study on the papers in Medline/PubMed from 2005-2009. Were considereda total 404 publications, clinical trials and epidemiological studies side, analyzed according to thepercentage distribution of articles by clinical area, year of publication, and institutional affiliation ofresearchers. Results: It found a greater number of trials (93% systematic reviews represented thegreatest number of epidemiological studies side. The clinical areas pulmonary and cardiovascularaccount for 65% of scientific publications in the studies analyzed. The year with highest numberof publications was 2008. Half of the clinical research produced in this five-year have affiliationwith academic institutions, and secondly, studies conducted in hospitals. Conclusions: the clinicalresearch publications in Physiotherapy in Medline/PubMed registered show sustained activity ofscientific production in the pulmonary and cardiovascular areas, consistent with the major healthconcerns in the world. The findings suggest that the ability of physiotherapists to develop qualityresearch, use and transfer of results into clinical practice should achieve greater development.

The clinical spectrum and antibiotic sensitivity patterns of staphylococcal pyodermas in the community and hospital

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Shireen Furtado

2014-01-01

Full Text Available Context: The uncontrolled use of antibiotics has resulted in a relentless spread of multiresistant strains of Staphylococcus aureus. There are studies conducted in medical colleges in Chandigarh, Chennai, Mumbai and Vellore comparing pyodermas in the community and hospital setting based on clinical and bacteriological parameters. Aims: This study, conducted over 1½ years from March 2009 to August 2010, aimed at analyzing the clinical spectrum and antibiotic sensitivity pattern of community and hospital-associated (HA staphylococcal pyoderma. It also assessed the prevalence of methicillin-resistant S. aureus (MRSA in the community and hospital cohort settings. Subjects and Methods: The study comprised of 200 cases of staphylococcal pyodermas, derived from the community (150 cases and hospital (50 cases. Patients were evaluated based on their clinical presentation; antibiotic susceptibility was tested using the Kirby-Bauer disk diffusion method. Statistical Analysis Used: Statistical significance between individual attributes between the community and HA staphylococcal pyoderma groups was analyzed using Chi-square test and mean differences using student′s t-test. Results: Factors associated with community-associated (CA pyodermas were young age (P = 0.0021, primary pyodermas, and involvement of extremities, while those with HA pyodermas were middle age, secondary pyodermas, and significantly increased body surface involvement (P = 0.041. Incidence of CA-MRSA was 11.3%, while that of HA-MRSA was 18%. Conclusions: A high level of resistance to first-line drugs such as penicillin, ciprofloxacin and cotrimoxazole was observed, more so in the hospital strain than in the community strain. S. aureus demonstrated good susceptibility to cephalosporins. Though the two strains of MRSA differed clinically, they showed 100% sensitivity to vancomycin and linezolid.

Heterogeneity within autism spectrum disorders: what have we learned from neuroimaging studies?

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Rhoshel Krystyna Lenroot

2013-10-01

Full Text Available Autism spectrum disorders (ASD display significant heterogeneity. Although most neuroimaging studies in ASD have been designed to identify commonalities among affected individuals, rather than differences, some studies have explored variation within ASD. There have been two general types of approaches used for this in the neuroimaging literature to date: comparison of subgroups within ASD, and analyses using dimensional measures to link clinical variation to brain differences. This review focuses on structural and functional magnetic resonance imaging studies that have used these approaches to begin to explore heterogeneity between individuals with ASD. Although this type of data is yet sparse, recognition is growing of the limitations of behaviourally defined categorical diagnoses for understanding neurobiology. Study designs that are more informative regarding the sources of heterogeneity in ASD have the potential to improve our understanding of the neurobiological processes underlying ASD.

Clinical and neural effects of six-week administration of oxytocin on core symptoms of autism.

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Watanabe, Takamitsu; Kuroda, Miho; Kuwabara, Hitoshi; Aoki, Yuta; Iwashiro, Norichika; Tatsunobu, Natsubori; Takao, Hidemasa; Nippashi, Yasumasa; Kawakubo, Yuki; Kunimatsu, Akira; Kasai, Kiyoto; Yamasue, Hidenori

2015-11-01

Autism spectrum disorder is a prevalent neurodevelopmental disorder with no established pharmacological treatment for its core symptoms. Although previous literature has shown that single-dose administration of oxytocin temporally mitigates autistic social behaviours in experimental settings, it remains in dispute whether such potentially beneficial responses in laboratories can result in clinically positive effects in daily life situations, which are measurable only in long-term observations of individuals with the developmental disorder undergoing continual oxytocin administration. Here, to address this issue, we performed an exploratory, randomized, double-blind, placebo-controlled, crossover trial including 20 high-functional adult males with autism spectrum disorder. Data obtained from 18 participants who completed the trial showed that 6-week intranasal administration of oxytocin significantly reduced autism core symptoms specific to social reciprocity, which was clinically evaluated by Autism Diagnostic Observation Scale (P = 0.034, PFDR intervention were not larger than those seen in our previous single-dose intervention. These findings not only provide the evidence for clinically beneficial effects of continual oxytocin administration on the core social symptoms of autism spectrum disorder with suggesting its underlying biological mechanisms, but also highlight the necessity to seek optimal regimens of continual oxytocin treatment in future studies. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Clinical trial of modulatory effects of oxytocin treatment on higher-order social cognition in autism spectrum disorder: a randomized, placebo-controlled, double-blind and crossover trial.

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Preckel, Katrin; Kanske, Philipp; Singer, Tania; Paulus, Frieder M; Krach, Sören

2016-09-21

Autism spectrum disorders are neurodevelopmental conditions with severe impairments in social communication and interaction. Pioneering research suggests that oxytocin can improve motivation, cognition and attention to social cues in patients with autism spectrum disorder. The aim of this clinical trial is to characterize basic mechanisms of action of acute oxytocin treatment on neural levels and to relate these to changes in different levels of socio-affective and -cognitive functioning. This clinical study is a randomized, double-blind, cross-over, placebo-controlled, multicenter functional magnetic resonance imaging study with two arms. A sample of 102 male autism spectrum disorder patients, diagnosed with Infantile Autistic Disorder (F84.0 according to ICD-10), Asperger Syndrome (F84.5 according to ICD-10), or Atypical Autism (F84.1 according to ICD-10) will be recruited and will receive oxytocin and placebo nasal spray on two different days. Autism spectrum disorder patients will be randomized to determine who receives oxytocin on the first and who on the second visit. Healthy control participants will be recruited and case-control matched to the autism spectrum disorder patients. The primary outcome will be neural network activity, measured with functional magnetic resonance imaging while participants perform socio-affective and -cognitive tasks. Behavioral markers such as theory of mind accuracy ratings and response times will be assessed as secondary outcomes in addition to physiological measures such as skin conductance. Trait measures for alexithymia, interpersonal reactivity, and social anxiety will also be evaluated. Additionally, we will analyze the effect of oxytocin receptor gene variants and how these potentially influence the primary and secondary outcome measures. Functional magnetic resonance imaging assessments will take place at two time points which will be scheduled at least two weeks apart to ensure a sufficient wash-out time after oxytocin

SU-F-R-06: Traumatic Brachial Plexus Injury Imaging, Developing a Coherent Clinical Protocol From Literature Review Through Practice

International Nuclear Information System (INIS)

Wu, D; France, E; Lambert, J; Hinkle, J

2016-01-01

Purpose: Medical Physics teams can now play a critical role to help plan and provide studied approaches for traumatic brachial plexus MR imaging (tbpMRI). This is especially important for coordination with uncommon applications, since it is challenging to select the right modality, parameters, and train technologists on the essential components. For this work, we started with a review of the medical literature, performed crossover/volunteer studies to bring tbpMRI to practice with greater image QC and protocol management. Methods: To the best of our knowledge, we reviewed the known searchable domain for tbpMRI. We found 69 total articles since 2000. Articles were evaluated with our published protocol for literature management (LIMES3). Two physicists and two radiologists condensed the information from all articles into a knowledgebase. Results: The initial literature demonstrated great heterogeneity, which was a sign that this area needed greater consistency. Despite inconsistency and imprecision, we extracted the most relevant targets using our long-term experience with protocol development in MSK. We ran volunteers on six different magnets of various field strengths with multiple receiver coils, and rebuilt a coherent protocol for tbpMRI. Our radiologists rated LIMES3 work as superior. We have received referrals from the ER and have conducted four patient evaluations. Conclusion: Traumatic brachial plexus MRI has great possible benefits for patients. This work supports the complexity of tbpMRI scanning. As this is rarely performed, it requires a more diligent protocol workflow, coordination of caregivers, and education within multiple clinical departments. Choosing the correct imaging exam can be critical, as patients can have significant neuropathy and/or paralysis. The LIMES3 protocol is well liked at our institution, and forms the cornerstone of understanding for our work. Our literature management led to a better clinical protocol creation despite the diffuse

SU-F-R-06: Traumatic Brachial Plexus Injury Imaging, Developing a Coherent Clinical Protocol From Literature Review Through Practice

Energy Technology Data Exchange (ETDEWEB)

Wu, D; France, E; Lambert, J; Hinkle, J [The University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States)

2016-06-15

Purpose: Medical Physics teams can now play a critical role to help plan and provide studied approaches for traumatic brachial plexus MR imaging (tbpMRI). This is especially important for coordination with uncommon applications, since it is challenging to select the right modality, parameters, and train technologists on the essential components. For this work, we started with a review of the medical literature, performed crossover/volunteer studies to bring tbpMRI to practice with greater image QC and protocol management. Methods: To the best of our knowledge, we reviewed the known searchable domain for tbpMRI. We found 69 total articles since 2000. Articles were evaluated with our published protocol for literature management (LIMES3). Two physicists and two radiologists condensed the information from all articles into a knowledgebase. Results: The initial literature demonstrated great heterogeneity, which was a sign that this area needed greater consistency. Despite inconsistency and imprecision, we extracted the most relevant targets using our long-term experience with protocol development in MSK. We ran volunteers on six different magnets of various field strengths with multiple receiver coils, and rebuilt a coherent protocol for tbpMRI. Our radiologists rated LIMES3 work as superior. We have received referrals from the ER and have conducted four patient evaluations. Conclusion: Traumatic brachial plexus MRI has great possible benefits for patients. This work supports the complexity of tbpMRI scanning. As this is rarely performed, it requires a more diligent protocol workflow, coordination of caregivers, and education within multiple clinical departments. Choosing the correct imaging exam can be critical, as patients can have significant neuropathy and/or paralysis. The LIMES3 protocol is well liked at our institution, and forms the cornerstone of understanding for our work. Our literature management led to a better clinical protocol creation despite the diffuse

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

Science.gov (United States)

Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

2017-01-01

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

Theory of mind impairment: a distinct trait-marker for schizophrenia spectrum disorders and bipolar disorder?

Science.gov (United States)

Bora, E; Yücel, M; Pantelis, C

2009-10-01

The aim of this study was to critically review the literature in order to determine if Theory of Mind (ToM) impairment can be considered a trait-marker for schizophrenia spectrum disorders and bipolar disorder (BD). After a thorough literature search, we reviewed the empirical studies investigating ToM impairments in remitted schizophrenia patients, first episode patients, subjects at high-risk (HR) for psychosis and first-degree relatives of schizophrenia patients. Studies investigating ToM impairment in other schizophrenia spectrum conditions, affective psychosis and BD were also reviewed. ToM abnormalities exist at onset and continue throughout the course of schizophrenia, persist into remission, and while less severe, are apparent in HR populations. Mentalizing impairments are also observed in other forms of psychotic illness and BD. Mentalizing impairment in schizophrenia spectrum disorders and BD might reflect underlying general cognitive deficits and residual symptom expression, rather than representing a specific trait-marker.

Antibiotic Susceptibility Pattern of Extended Spectrum ...

African Journals Online (AJOL)

Purpose: To evaluate the antibiotic susceptibility pattern of various bacterial pathogens including extended spectrum betalactamase (ESBL) producers in Kano, Nigeria. Method: A total of 604 consecutive clinical samples obtained from Aminu Kano Teaching Hospital (AKTH), Kano between January and July 2010 were ...

Spectrum estimation method based on marginal spectrum

International Nuclear Information System (INIS)

Cai Jianhua; Hu Weiwen; Wang Xianchun

2011-01-01

FFT method can not meet the basic requirements of power spectrum for non-stationary signal and short signal. A new spectrum estimation method based on marginal spectrum from Hilbert-Huang transform (HHT) was proposed. The procession of obtaining marginal spectrum in HHT method was given and the linear property of marginal spectrum was demonstrated. Compared with the FFT method, the physical meaning and the frequency resolution of marginal spectrum were further analyzed. Then the Hilbert spectrum estimation algorithm was discussed in detail, and the simulation results were given at last. The theory and simulation shows that under the condition of short data signal and non-stationary signal, the frequency resolution and estimation precision of HHT method is better than that of FFT method. (authors)

Correction Method of Wiener Spectrum (WS) on Digital Medical Imaging Systems

International Nuclear Information System (INIS)

Kim, Jung Min; Lee, Ki Sung; Kim, You Hyun

2009-01-01

Noise evaluation for an image has been performed by root mean square (RMS) granularity, autocorrelation function (ACF), and Wiener spectrum. RMS granularity stands for standard deviation of photon data and ACF is acquired by integration of 1 D function of distance variation. Fourier transform of ACF results in noise power spectrum which is called Wiener spectrum in image quality evaluation. Wiener spectrum represents noise itself. In addition, along with MTF, it is an important factor to produce detective quantum efficiency (DQE). The proposed evaluation method using Wiener spectrum is expected to contribute to educate the concept of Wiener spectrum in educational organizations, choose the appropriate imaging detectors for clinical applications, and maintain image quality in digital imaging systems.

A preliminary bending fatigue spectrum for steel monostrand cables

DEFF Research Database (Denmark)

Winkler, Jan; Fischer, Gregor; Georgakis, Christos T.

2011-01-01

This paper presents the results of the experimental study on the bending fatigue resistance of high-strength steel monostrand cables. From the conducted fatigue tests in the high-stress, low-cycle region, a preliminary bending fatigue spectrum is derived for the estimation of monostrand cable...... service life expectancy. The presented preliminary bending fatigue spectrum of high-strength monostrands is currently unavailable in the published literature. The presented results provide relevant information on the bending mechanism and fatigue characteristics of monostrand steel cables in tension...... and flexure and show that localized cable bending has a pronounced influence on the fatigue resistance of cables under dynamic excitations....

Characteristics of autism spectrum disorder in anorexia nervosa: A naturalistic study in an inpatient treatment programme.

Science.gov (United States)

Tchanturia, Kate; Adamson, James; Leppanen, Jenni; Westwood, Heather

2017-11-01

Previous research has demonstrated links between anorexia nervosa and autism spectrum disorder however, few studies have examined the possible impact of symptoms of autism spectrum disorder on clinical outcomes in anorexia nervosa. The aim of this study was to examine the association between symptoms of autism spectrum disorder and eating disorders, and other psychopathology during the course of inpatient treatment in individuals with anorexia nervosa. Participants with anorexia nervosa (n = 171) completed questionnaires exploring eating disorder psychopathology, symptoms of depression and anxiety, and everyday functioning at both admission and discharge. Characteristics associated with autism spectrum disorder were assessed using the Autism Spectrum Quotient, short version. Autism spectrum disorder symptoms were significantly positively correlated with eating disorder psychopathology, work and social functioning, and symptoms of depression and anxiety, but not with body mass index. Autism Spectrum Quotient, short version scores remained relatively stable from admission to discharge but there was a small, significant reduction in scores. There was no interaction between time and Autism Spectrum Quotient, short version scores on clinical symptom change. In anorexia nervosa, autism spectrum disorder symptoms appear to be associated with a more severe clinical presentation on admission to inpatient care. Autism spectrum disorder symptoms as assessed by self-report measures may be exacerbated by other mental health psychopathology, which warrants further investigation.

Autistic spectrum disorders: A review of clinical features, theories and diagnosis.

Science.gov (United States)

Fakhoury, Marc

2015-06-01

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the most severe in terms of prevalence, morbidity and impact to the society. It is characterized by complex behavioral phenotype and deficits in both social and cognitive functions. Although the exact cause of ASD is still not known, the main findings emphasize the role of genetic and environmental factors in the development of autistic behavior. Environmental factors are also likely to interact with the genetic profile and cause aberrant changes in brain growth, neuronal development, and functional connectivity. The past few years have seen an increase in the prevalence of ASD, as a result of enhanced clinical tests and diagnostic tools. Despite growing evidence for the involvement of endogenous biomarkers in the pathophysiology of ASD, early detection of this disorder remains a big challenge. This paper describes the main behavioral and cognitive features of ASD, as well as the symptoms that differentiate autism from other developmental disorders. An attempt will be made to integrate all the available evidence which point to reduced brain connectivity, mirror neurons deficits, and inhibition-excitation imbalance in individuals with ASD. Finally, this review discusses the main factors involved in the pathophysiology of ASD, and illustrates some of the most important markers used for the diagnosis of this debilitating disorder. Copyright © 2015 Elsevier Ltd. All rights reserved.

Improving Empathic Communication Skills in Adults with Autism Spectrum Disorder

Science.gov (United States)

Koegel, Lynn Kern; Ashbaugh, Kristen; Navab, Anahita; Koegel, Robert L.

2016-01-01

The literature suggests that many individuals diagnosed with Autism Spectrum Disorder (ASD) experience challenges with recognizing and describing emotions in others, which may result in difficulties with the verbal expression of empathy during communication. Thus, there is a need for intervention techniques targeting this area. Using a multiple…

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Science.gov (United States)

Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

2014-01-01

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Using Cognitive Behavior Therapy in Clinical Work with African American Children and Adolescents: A Review of the Literature

Science.gov (United States)

Wilson, Courtney J.; Cottone, R. Rocco

2013-01-01

A comprehensive review of the literature on clinical work with African American youth with cognitive behavior therapy (CBT) is presented. The strengths and limitations of CBT in relation to this population are outlined. Although CBT shows promise in helping, research on the efficacy and effectiveness of CBT in this group is lacking. (Contains 3…

Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

Directory of Open Access Journals (Sweden)

Harris PR

2014-07-01

Full Text Available Patricia RE Harris,1 Claire E Sommargren,2 Phyllis K Stein,3 Gordon L Fung,4,5 Barbara J Drew6,7 1ECG Monitoring Research Lab, 2Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA; 3Heart Rate Variability Laboratory, School of Medicine, Washington University, St Louis, MO, USA; 4Asian Heart & Vascular Center at Mount Zion, Division of Cardiology, University of California, 5Cardiology Consultation Service, Cardiac Noninvasive Laboratory, and The Enhanced External Counterpulsation Unit, Department of Medicine, University of California, San Francisco Medical Center, 6Division of Cardiology, 7Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA Aim: We aimed to explore links between heart rate variability (HRV and clinical depression in patients with acute coronary syndrome (ACS, through a review of recent clinical research literature. Background: Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods: A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results: Nine clinical studies met the inclusion criteria. The

Spectrum of acute clinical characteristics of diagnosed concussions in college athletes wearing instrumented helmets: clinical article.

Science.gov (United States)

Duhaime, Ann-Christine; Beckwith, Jonathan G; Maerlender, Arthur C; McAllister, Thomas W; Crisco, Joseph J; Duma, Stefan M; Brolinson, P Gunnar; Rowson, Steven; Flashman, Laura A; Chu, Jeffrey J; Greenwald, Richard M

2012-12-01

alertness. Most diagnoses were based on self-reported symptoms. The mean peak angular and rotational acceleration values for those cases associated with a specific identified impact were 86.1 ± 42.6g (range 16.5-177.9 g) and 3620 ± 2166 rad/sec( 2 ) (range 183-7589 rad/sec( 2 )), respectively. Approximately two-thirds of diagnosed concussions were associated with a specific contact event. Half of all players diagnosed with concussions had delayed or unclear timing of onset of symptoms. Most had no externally observed findings. Diagnosis was usually based on a range of self-reported symptoms after a variable delay. Accelerations clustered in the higher percentiles for all impact events, but encompassed a wide range. These data highlight the heterogeneity of criteria for concussion diagnosis, and in this sports context, its heavy reliance on self-reported symptoms. More specific and standardized definitions of clinical and objective correlates of a "concussion spectrum" may be needed in future research efforts, as well as in the clinical diagnostic arena.

Which positive factors determine the GP satisfaction in clinical practice? A systematic literature review.

Science.gov (United States)

Le Floch, B; Bastiaens, H; Le Reste, J Y; Lingner, H; Hoffman, R D; Czachowski, S; Assenova, R; Koskela, T H; Klemenc-Ketis, Z; Nabbe, P; Sowinska, A; Montier, T; Peremans, L

2016-09-13

Looking at what makes General Practitioners (GPs) happy in their profession, may be important in increasing the GP workforce in the future. The European General Practice Research Network (EGPRN) created a research team (eight national groups) in order to clarify the factors involved in GP job satisfaction throughout Europe. The first step of this study was a literature review to explore how the satisfaction of GPs had been studied before. The research question was "Which factors are related to GP satisfaction in Clinical Practice?" Systematic literature review according to the PRISMA statement. The databases searched were Pubmed, Embase and Cochrane. All articles were identified, screened and included by two separate research teams, according to inclusion or exclusion criteria. Then, a qualitative appraisal was undertaken. Next, a thematic analysis process was undertaken to capture any issue relevant to the research question. The number of records screened was 458. One hundred four were eligible. Finally, 17 articles were included. The data revealed 13 subthemes, which were grouped into three major themes for GP satisfaction. First there were general profession-related themes, applicable to many professions. A second group of issues related specifically to a GP setting. Finally, a third group was related to professional life and personal issues. A number of factors leading to GP job satisfaction, exist in literature They should be used by policy makers within Europe to increase the GP workforce. The research team needs to undertake qualitative studies to confirm or enhance those results.

Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

Science.gov (United States)

Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

2012-01-01

Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

Spectrum of human tails: A report of six cases

Directory of Open Access Journals (Sweden)

Biswanath Mukhopadhyay

2012-01-01

Full Text Available Human tail is a curiosity, a cosmetic stigma and presents as an appendage in the lumbosacral region. Six patients of tail in the lumbosacral region are presented here to discuss the spectrum of presentation of human tails. The embryology, pathology and treatment of this entity are discussed along with a brief review of the literature.

Antimicrobial effects of Ferula gummosa Boiss gum against extended-spectrum β-lactamase producing Acinetobacter clinical isolates.

Science.gov (United States)

Afshar, Fatemeh Farid; Saffarian, Parvaneh; Hosseini, Hamideh Mahmoodzadeh; Sattarian, Fereshteh; Amin, Mohsen; Fooladi, Abbas Ali Imani

2016-08-01

Acinetobacter spp. are important causes of nosocomial infections. They possess various antibiotic resistance mechanisms including extended spectrum beta lactamases (ESBLs). The aim of this study was to determine antibiotic resistance profile of Acinetobacter clinical isolates especially among ESBL-producing strains and to investigate the antimicrobial effects of oleo-gum-resin extract and essential oil of Ferula gummosa Boiss. 120 Acinetobacter strains were isolated from various clinical samples of hospitalized patients in Baqiyatallah hospital, Tehran during 2011-2012. Antibiotic susceptibility test was performed on the isolates using disk diffusion method. To detect and confirm the ESBL-positive isolates, phenotypic and genotypic tests were performed. Three types of F. gummosa oleo-gum-resin extracts and essential oils were prepared and the bioactive components of F. gummosa Boiss extracts were determined by GC-Mass chromatography. F. gummosa antimicrobial activity was evaluated against standard strain of Acinetobacter baumannii (ATCC19606) as well as Acinetobacter clinical isolates using well and disk diffusion methods. Minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) were determined by broth microdilution method. 46 isolates were resistant to all tested antibiotics. All clinical isolates were resistant to cefotaxime. 12.94% of the isolates were phenotypically ESBL-producing among which 94.2% carried ESBL genes ( bla PER-1 , bla OXA-4 and bla CTX-M ) detected by PCR. Oleo-gum-resin of F. gummosa had significant antibacterial activity and alcoholic essential oil had higher inhibitory effect on Acinetobacter strains (MIC of 18.75 mg/ml). Ferula gummosa extract contained components with well-known antimicrobial effects.

Testing for Gluten-Related Disorders in Clinical Practice: The Role of Serology in Managing the Spectrum of Gluten Sensitivity

Directory of Open Access Journals (Sweden)

David Armstrong

2011-01-01

Full Text Available Immunoglobulin A tissue transglutaminase is the single most efficient serological test for the diagnosis of celiac disease. It is well known that immunoglobulin A tissue transglutaminase levels correlate with the degree of intestinal damage, and that values can fluctuate in patients over time. Serological testing can be used to identify symptomatic individuals that need a confirmatory biopsy, to screen at-risk populations or to monitor diet compliance in patients previously diagnosed with celiac disease. Thus, interpretation of serological testing requires consideration of the full clinical scenario. Antigliadin tests are no longer recommended for the diagnosis of classical celiac disease. However, our understanding of the pathogenesis and spectrum of gluten sensitivity has improved, and gluten-sensitive irritable bowel syndrome patients are increasingly being recognized. Studies are needed to determine the clinical utility of antigliadin serology in the diagnosis of gluten sensitivity.

Spectrum 101: An Introduction to Spectrum Management

Science.gov (United States)

2004-03-01

produces a Joint Restricted Frequency List (JRFL). The JFRL consolidates and classifies the spectrum uses that are most critical to operations and to...Management Office JRFL Joint Restricted Frequency List JSC Joint Spectrum Center JSIR Joint Spectrum Interference Resolution JSME Joint Spectrum...Multifunctional Information Distribution System MILSATCOM Military Satellite Communications MOA Memorandum of Agreement MRFL Master Radio Frequency

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Science.gov (United States)

Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina

2017-09-07

Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity and/or its complications. To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. Additional 22 patients affected with an overlapping phenotype, i.e., Larsen of Reunion Island syndrome, all carrying a homozygous B4GALT7 mutation, are also recognized. Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. Sanger sequencing of B4GALT7 was performed since the evaluation of the spEDS gene-specific minor criteria suggested this specific subtype. Mutational screening revealed the homozygous c.829G>T, p.Glu277* pathogenetic variant leading to aberrant splicing. Our findings expand both the clinical and mutational spectrum of this ultrarare connective tissue disorder. The comparison of the patient's features with those of the other spEDS and Larsen of Reunion Island syndrome patients reported up to now offers future perspectives for spEDS nosology and clinical research in this field.

Anxiety Levels in Children with Autism Spectrum Disorder : A Meta-Analysis

NARCIS (Netherlands)

van Steensel, F.J.A.; Heeman, E.J.

The aim of the current study was to meta-analytically examine whether anxiety levels in children with autism spectrum disorders (ASD) are elevated. A total of 83 articles were selected from a systematic literature search and were included in the meta-analyses. Results demonstrated that children with

Is Neonatal Jaundice Associated with Autism Spectrum Disorders: A Systematic Review

Science.gov (United States)

Amin, Sanjiv B.; Smith, Tristram; Wang, Hongyue

2011-01-01

Using guidelines of the Meta-analysis of Observational Studies in Epidemiology Group, we systematically reviewed the literature on neonatal jaundice (unconjugated hyperbilirubinemia) and Autism Spectrum Disorder (ASD) in term and preterm infants. Thirteen studies were included in a meta-analysis. Most used retrospective matched case-control…

Investigating interoception and body awareness in adults with and without autism spectrum disorder.

Science.gov (United States)

Fiene, Lisa; Brownlow, Charlotte

2015-12-01

This study aimed to investigate the current gap in the literature with regard to how adults with and without Autism Spectrum Disorder (ASD) interpret elements of the interoceptive sense, which includes thirst, hunger, temperature, satiety, and the prediction of onset of illness. Adults with a diagnosed ASD (n = 74; 36 males, 38 females) were compared to a control group (n = 228; 53 males, 174 females, 1 unspecified) in their self-reported perceptions of body awareness utilizing the Body Awareness Questionnaire (BAQ) and thirst awareness using the Thirst Awareness Scale (TAS). Those in the ASD group reported a clinically significant lower body and thirst awareness compared to the control group, and this was a large effect (BAQ; d = -1.26, P mental health, social interactions and self-awareness of adults with ASD. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

Using literature and data to learn Bayesian networks as clinical models of ovarian tumors.

Science.gov (United States)

Antal, Peter; Fannes, Geert; Timmerman, Dirk; Moreau, Yves; De Moor, Bart

2004-03-01

Thanks to its increasing availability, electronic literature has become a potential source of information for the development of complex Bayesian networks (BN), when human expertise is missing or data is scarce or contains much noise. This opportunity raises the question of how to integrate information from free-text resources with statistical data in learning Bayesian networks. Firstly, we report on the collection of prior information resources in the ovarian cancer domain, which includes "kernel" annotations of the domain variables. We introduce methods based on the annotations and literature to derive informative pairwise dependency measures, which are derived from the statistical cooccurrence of the names of the variables, from the similarity of the "kernel" descriptions of the variables and from a combined method. We perform wide-scale evaluation of these text-based dependency scores against an expert reference and against data scores (the mutual information (MI) and a Bayesian score). Next, we transform the text-based dependency measures into informative text-based priors for Bayesian network structures. Finally, we report the benefit of such informative text-based priors on the performance of a Bayesian network for the classification of ovarian tumors from clinical data.

Trauma as a Contributor to Violence in Autism Spectrum Disorder.

Science.gov (United States)

Im, David S

2016-06-01

In examining contributors to violence among individuals with autism spectrum disorder (ASD), one factor that has received little attention is a history of psychological trauma. This study's purpose was to explore the possible mechanisms for an association between trauma and violence in persons with ASD. The literature regarding the neurobiology and theoretical underpinnings of ASD is reviewed and compared with the literature on the neurobiology and theoretical underpinnings of trauma as a risk factor for violence in individuals without ASD. Information from this comparison is then used to formulate possible mechanisms for a trauma-violence association in ASD. Individuals with ASD may possess sensitized prefrontal-cortical-limbic networks that are overloaded in the face of trauma, leading to unchecked limbic output that produces violent behavior, and/or cognitive dysfunction (including deficits in theory of mind, central coherence, and executive function) that impacts trauma processing in ways that portend violence. While these mechanisms for a trauma-violence association in ASD may have case-based support, more research is needed to confirm these mechanisms and clarify whether in fact trauma increases violence risk in ASD. To facilitate the investigation, it would be helpful for clinical and forensic evaluators to obtain a careful trauma history when evaluating all individuals, including those with ASD. © 2016 American Academy of Psychiatry and the Law.

A Clinical Decision Tree to Predict Whether a Bacteremic Patient Is Infected With an Extended-Spectrum β-Lactamase-Producing Organism.

Science.gov (United States)

Goodman, Katherine E; Lessler, Justin; Cosgrove, Sara E; Harris, Anthony D; Lautenbach, Ebbing; Han, Jennifer H; Milstone, Aaron M; Massey, Colin J; Tamma, Pranita D

2016-10-01

Timely identification of extended-spectrum β-lactamase (ESBL) bacteremia can improve clinical outcomes while minimizing unnecessary use of broad-spectrum antibiotics, including carbapenems. However, most clinical microbiology laboratories currently require at least 24 additional hours from the time of microbial genus and species identification to confirm ESBL production. Our objective was to develop a user-friendly decision tree to predict which organisms are ESBL producing, to guide appropriate antibiotic therapy. We included patients ≥18 years of age with bacteremia due to Escherichia coli or Klebsiella species from October 2008 to March 2015 at Johns Hopkins Hospital. Isolates with ceftriaxone minimum inhibitory concentrations ≥2 µg/mL underwent ESBL confirmatory testing. Recursive partitioning was used to generate a decision tree to determine the likelihood that a bacteremic patient was infected with an ESBL producer. Discrimination of the original and cross-validated models was evaluated using receiver operating characteristic curves and by calculation of C-statistics. A total of 1288 patients with bacteremia met eligibility criteria. For 194 patients (15%), bacteremia was due to a confirmed ESBL producer. The final classification tree for predicting ESBL-positive bacteremia included 5 predictors: history of ESBL colonization/infection, chronic indwelling vascular hardware, age ≥43 years, recent hospitalization in an ESBL high-burden region, and ≥6 days of antibiotic exposure in the prior 6 months. The decision tree's positive and negative predictive values were 90.8% and 91.9%, respectively. Our findings suggest that a clinical decision tree can be used to estimate a bacteremic patient's likelihood of infection with ESBL-producing bacteria. Recursive partitioning offers a practical, user-friendly approach for addressing important diagnostic questions. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of

Deaf Children with Autism Spectrum Disorders

Science.gov (United States)

Szymanski, Christen A.; Brice, Patrick J.; Lam, Kay H.; Hotto, Sue A.

2012-01-01

Epidemiological studies investigating the prevalence of autism have increased in recent years, within the United States and abroad. However, statistics as to how many of those children may also have a comorbid hearing loss is lacking. The prevalence of school-administrator reported diagnosis of autism spectrum disorders (clinical diagnosis…

International clinical placements for Australian undergraduate nursing students: A systematic thematic synthesis of the literature.

Science.gov (United States)

Browne, Caroline A; Fetherston, Catherine M; Medigovich, Kristina

2015-10-01

International clinical placements provide undergraduate nursing students with the opportunity to experience or practice nursing care in diverse countries, settings, and cultures. This systematic review aims to ascertain the current knowledge on international clinical placements offered by undergraduate nursing programs in Australia. It seeks to explore three questions: (1) How have previous experiences of nursing students' international clinical placements been described? (2) How have participants and stakeholders determined if the placement has been successful? And (3) What benefits or challenges have been identified by stakeholders as a result of participating in international clinical placements? A systematic thematic synthesis was undertaken. A search of electronic databases including CINAHL, Proquest Central, Scopus, PubMed, and Health Collection was undertaken between September and October 2014. Key terms including 'international clinical placement', 'study abroad', 'international exchange', 'nursing', and 'Australia' were used to identify articles that appeared in peer-reviewed English language journals and that explored international clinical placements offered to undergraduate nursing students by Australian universities. Eight studies were identified that meet the inclusion criteria, and through thematic analysis, five key themes were identified including developing cultural awareness and competence, providing a global perspective on health care, translation of theory to practice, growing personally through reflection, and overcoming apprehension to successfully meet the challenge. A comparison search of literature from Canada and the United Kingdom revealed that similar themes occurred internationally. Although personal successes were identified by students undertaking international clinical placement, further research is required to identify all stakeholder experiences including those of the educators, the educational institutions, and travel providers

Historical evolution of the concept of anorexia nervosa and relationships with orthorexia nervosa, autism, and obsessive-compulsive spectrum

Directory of Open Access Journals (Sweden)

Dell'Osso L

2016-07-01

Full Text Available Liliana Dell’Osso,1 Marianna Abelli,1 Barbara Carpita,1 Stefano Pini,1 Giovanni Castellini,2 Claudia Carmassi,1 Valdo Ricca2 1Psychiatry Section, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, 2Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA, University of Florence, Florence, Italy Abstract: Eating disorders have been defined as “characterized by persistence disturbance of eating or eating-related behavior that results in the altered consumption or absorption of food and that significantly impairs health or psychosocial functioning”. The psychopathology of eating disorders changed across time under the influence of environmental factors, determining the emergence of new phenotypes. Some of these conditions are still under investigation and are not clearly identified as independent diagnostic entities. In this review, the historic evolution of the eating disorder concept up to the recent Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, has been evaluated. We also examined literature supporting the inclusion of new emergent eating behaviors within the eating disorder spectrum, and their relationship with anorexia, autism, and obsessive–compulsive disorder. In particular, we focused on what is known about the symptoms, epidemiology, assessment, and diagnostic boundaries of a new problematic eating pattern called orthorexia nervosa that could be accepted as a new psychological syndrome, as emphasized by an increasing number of scientific articles in the last few years. Keywords: anorexia nervosa, autism spectrum disorders, eating disorders spectrum, obsessive–compulsive spectrum, orthorexia nervosa, DSM-5

Spectrum

DEFF Research Database (Denmark)

Høgfeldt Hansen, Leif

2016-01-01

The publication functions as a proces description of the development and construction of an urban furniture SPECTRUM in the city of Gwangju, Republic of Korea. It is used as the cataloque for the exhibition of Spectrum.......The publication functions as a proces description of the development and construction of an urban furniture SPECTRUM in the city of Gwangju, Republic of Korea. It is used as the cataloque for the exhibition of Spectrum....

Cry, Baby, Cry: Expression of Distress As a Biomarker and Modulator in Autism Spectrum Disorder

OpenAIRE

Esposito, Gianluca; Hiroi, Noboru; Scattoni, Maria Luisa

2017-01-01

Abstract Background: Early diagnosis of autism spectrum disorder is critical, because early intensive treatment greatly improves its prognosis. Methods: We review studies that examined vocalizations of infants with autism spectrum disorder and mouse models of autism spectrum disorder as a potential means to identify autism spectrum disorder before the symptomatic elements of autism spectrum disorder emerge. We further discuss clinical implications and future research priorities in the field. ...

[Autism spectrum syndrome replaces Asperger syndrome and autism].

Science.gov (United States)

Bejerot, Susanne; Nordin, Viviann

2014-09-23

Autism spectrum disorder describes a behaviourally defined impairment in social interaction and communication, along with the presence of restricted interests and repetitive behaviours. Although the etiology is mostly unknown, it is evident that biological factors affect the brain and result in the autistic clinical presentation. Assessment for diagnosing autism spectrum disorder should be comprehensive in order to cover all sorts of problems related to the disorder. Knowledge and experience from working with neurological and psychiatric disorders are a prerequisite for quality in the examination. Up to now, there is no cure for autism spectrum disorder, but support and adaptations in education are nevertheless important for obtaining sufficient life quality for the patients and the family.

THE CLINICAL SPECTRUM OF AMOEBIC COLITIS*

African Journals Online (AJOL)

1971-02-27

Feb 27, 1971 ... The clinical presentation of acute amoebic colitis and its ... Case 1. A 35-year-old Coloured male presented to the. Medical Outpatient Department with a 2-week ..... necessitate emergency colectomy. ... tion and peritonitis.

Prenatal neurogenesis in autism spectrum disorders

Science.gov (United States)

Kaushik, Gaurav; Zarbalis, Konstantinos

2016-03-01

An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories. In these cases, normal cerebral size at birth is followed by a period of abnormal growth and starting in late childhood often by regression compared to unaffected controls. Recent work has demonstrated an abnormal increase in the number of neurons of the prefrontal cortex suggesting that cerebral size increase in autism is driven by excess neuronal production. In addition, some affected children display patches of abnormal laminar positioning of cortical projection neurons. As both cortical projection neuron numbers and their correct layering within the developing cortex requires the undisturbed proliferation of neural progenitors, it appears that neural progenitors lie in the center of the autism pathology associated with early brain overgrowth. Consequently, autism spectrum disorders associated with cerebral enlargement should be viewed as birth defects of an early embryonic origin with profound implications for their early diagnosis, preventive strategies, and therapeutic intervention.

Review of Full Spectrum of Services offered at Special Libraries

Directory of Open Access Journals (Sweden)

Fatemeh Assian

2009-12-01

Full Text Available   Special libraries fill a very important role in providing services to corporate users. The necessity to identify and promote the full spectrum of services offered by these type of libraries is felt more than ever. The present paper attempts to describe these services by reviewing the literature published in this respect.

Overlap Between Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Searching for Distinctive/Common Clinical Features.

Science.gov (United States)

Craig, Francesco; Lamanna, Anna Linda; Margari, Francesco; Matera, Emilia; Simone, Marta; Margari, Lucia

2015-06-01

Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Experiences of registered nurses who supervise international nursing students in the clinical and classroom setting: an integrative literature review.

Science.gov (United States)

Newton, Louise; Pront, Leeanne; Giles, Tracey M

2016-06-01

To examine the literature reporting the experiences and perceptions of registered nurses who supervise international nursing students in the clinical and classroom setting. Nursing education relies on clinical experts to supervise students during classroom and clinical education, and the quality of that supervision has a significant impact on student development and learning. Global migration and internationalisation of nursing education have led to increasing numbers of registered nurses supervising international nursing students. However, a paucity of relevant literature limits our understanding of these experiences. An integrative literature review. Comprehensive database searches of CINAHL, Informit, PubMed, Journals@Ovid, Findit@flinders and Medline were undertaken. Screening of 179 articles resulted in 10 included for review. Appraisal and analysis using Whittemore and Knafl's (Journal of Advanced Nursing, 52, 2005, 546) five stage integrative review recommendations was undertaken. This review highlighted some unique challenges for registered nurses supervising international nursing students. Identified issues were, a heightened sense of responsibility, additional pastoral care challenges, considerable time investments, communication challenges and cultural differences between teaching and learning styles. It is possible that these unique challenges could be minimised by implementing role preparation programmes specific to international nursing student supervision. Further research is needed to provide an in-depth exploration of current levels of preparation and support to make recommendations for future practice, education and policy development. An awareness of the specific cultural learning needs of international nursing students is an important first step to the provision of culturally competent supervision for this cohort of students. There is an urgent need for education and role preparation for all registered nurses supervising international nursing

Minimally verbal school-aged children with autism spectrum disorder: the neglected end of the spectrum.

Science.gov (United States)

Tager-Flusberg, Helen; Kasari, Connie

2013-12-01

It is currently estimated that about 30% of children with autism spectrum disorder remain minimally verbal, even after receiving years of interventions and a range of educational opportunities. Very little is known about the individuals at this end of the autism spectrum, in part because this is a highly variable population with no single set of defining characteristics or patterns of skills or deficits, and in part because it is extremely challenging to provide reliable or valid assessments of their developmental functioning. In this paper, we summarize current knowledge based on research including minimally verbal children. We review promising new novel methods for assessing the verbal and nonverbal abilities of minimally verbal school-aged children, including eye-tracking and brain-imaging methods that do not require overt responses. We then review what is known about interventions that may be effective in improving language and communication skills, including discussion of both nonaugmentative and augmentative methods. In the final section of the paper, we discuss the gaps in the literature and needs for future research. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

[Lightning strike and lesions outside the brain: Clinical cases and a review of the literature].

Science.gov (United States)

Morin, A; Lesourd, A; Cabane, J

2015-01-01

Every year, 240,000 people are struck by lightning worldwide, causing injuries leading to significant handicaps. Most of the symptoms involve brain lesions; neuromuscular sequelae and myelopathy are less common. We describe five cases of patients struck by lightning with various clinical presentations. The first patient presented painful paresthesias in both upper limbs that disappeared 18 months later; the injury was a plexopathy. The second patient developed proximal weakness in the upper-left limb due to a myopathy. Two patients presented with various motor weaknesses in the lower limbs due to motor neuron disease and myelopathy. The last patient had a transient tetraplegy, which resolved in 5minutes; the diagnosis was keraunoparalysis. Lightning injuries can have many consequences depending on the different mechanisms involved. The clinical presentation is often due to a very focal lesion without any secondary extension. Motor neuron disease probably results from post-traumatic myelopathy. We discuss the ALS-electrocution association, frequently described in the literature. Various peripheral nerve and spinal cord lesions can be seen in lightning strike victims involving myelopathy, motor neuron, muscle and plexus. Clinical syndromes are often atypical but outcome is often favorable. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature

Directory of Open Access Journals (Sweden)

Derrick Lonsdale

2011-01-01

Full Text Available Case histories of a mother and her two children are reported. The mother was a recovered alcoholic. She and her two children, both of whom had symptoms that are typical of autistic spectrum disorder, had dysautonomia. All had intermittently abnormal erythrocyte transketolase studies indicating abnormal thiamine pyrophosphate homeostasis. Both children had unusual concentrations of urinary arsenic. All had symptomatic improvement with diet restriction and supplementary vitamin therapy but quickly relapsed after ingestion of sugar, milk, or wheat. The stress of a heavy metal burden, superimposed on existing genetic or epigenetic risk factors, may be important in the etiology of autism spectrum disorder when in combination. Dysautonomia has been associated with several diseases, including autism, without a common etiology. It is hypothesized that oxidative stress results in loss of cellular energy and causes retardation of hard wiring of the brain in infancy, affecting limbic system control of the autonomic nervous system.

Theory of Mind in Autistic Family: A Literature Review

Directory of Open Access Journals (Sweden)

Aline Abreu e Andrade

2013-12-01

Full Text Available Theory of mind is the people ability to understand their own mental states and the others. People with autism have significant deficit in this ability. The objective of this study was to conduct a systematic literature review about theory of mind studies conducted with relatives of people with autistic spectrum disorders. We used as databases BVS Medline, Web of Science, Academic Search Premier and Psy Articles in search of articles. Nine articles were selected and the results indicated inconclusive data on the existence of theory of mind deficits in relatives of people with autistic spectrum disorders. Thus, future studies are aimed to shed light on the topic.

Neuromyelitis optica and neuromyelitis optica spectrum disorder: Natural history and long-term outcome, an Indian experience

Directory of Open Access Journals (Sweden)

Sujit Abajirao Jagtap

2015-01-01

Full Text Available Background: Neuromyelitis optica (NMO has evolved from devic′s classical description to a broader disease spectrum, from monophasic illness to a polyphasic illness with multiple recurrences, disease confined to optic nerve and spinal cord to now brain stem, cerebrum and even endocrinopathy due to hypothalamic involvement. Objectives: To report, the epidemiological characteristics, clinical presentations, recurrence rate, treatment and response to therapy in 26 patients with NMO and NMO spectrum disorder among the Indian population. Methods: We performed observational, retrospective analysis of our prospectively maintained data base of patients with NMO, longitudinally extensive transverse myelitis during the period of January 2003-December 2012 who satisfied the national multiple sclerosis society (NMSS task force criteria for diagnosis of NMO and NMO spectrum disorder. Results: There were 26 patients (female: male, 21:5, the mean age of onset of symptom was 27 years (range 9-58, standard deviation = 12. Twenty-one patients (80% fulfilled NMSS criteria for NMO while rest 5 patients (20% were considered as NMO spectrum disorder. Seven patients (27% had a monophasic illness, 19 patients (73% had a polyphasic illness with recurrences. The Median recurrence rate was 4/patient in the polyphasic group. 13 (50% patient were tested for aquaporin 4 antibody, 8 (61% were positive while 5 patients (39% were negative. All patients received intravenous methyl prednisolone, 9 patients (35% required further treatment for acute illness in view of unresponsiveness to steroids. Thirteen patients (50% received disease-modifying agents for recurrences. Mean duration of follow-up was 5 years. All patients had a good outcome (modified Rankin scale, <3 except one who had poor visual recovery. Conclusion: Neuromyelitis optica/NMO spectrum disorder is demyelinating disorder with female predominance, polyphasic course, myelitis being most common event although brain

Clinical review: Riedel's thyroiditis: a clinical review.

Science.gov (United States)

Hennessey, James V

2011-10-01

Riedel's thyroiditis is a rare inflammatory process involving the thyroid and surrounding cervical tissues and is associated with various forms of systemic fibrosis. Riedel's presentation is complex, including a thyroid mass associated with local symptoms, characteristic biochemical abnormalities such as hypocalcemia and hypothyroidism, as well as the involvement of a wide range of other organ systems. Diagnosis of Riedel's thyroiditis requires histopathological confirmation, but due to high complication rates, the role of surgical intervention is limited to airway decompression and diagnostic tissue retrieval. Unique among processes of the thyroid, Riedel's is commonly treated with long-term antiinflammatory medications to arrest progression and maintain a symptom-free course. Due to its rarity, Riedel's may not be immediately diagnosed, so clinicians benefit from recognizing the constellation of findings that should make prompt diagnosis possible. A review of print and electronic reviews was conducted. Source references were identified, and available literature was reviewed. A search of the PubMed database using the search term "Riedel's thyroiditis" was cross-referenced with associated clinical findings, systemic fibrosis diagnoses, and therapeutic search terms. Because most of the literature consisted of case reports and very small series, inclusion of identified articles was based on clinical descriptions of the subjects included and the criteria for diagnosis reported. More weight was attributed to series, using contemporary criteria for diagnosis. Case reports were included if the diagnosis was clear and clinical presentation was unique to illustrate the spectrum of disease. Because the majority of therapeutic intervention data were based upon case reports and very small series, an evidence-based approach was problematic, but information is presented as objectively and with as much balance as the limited quality of the data allows. Clinical awareness of the

Relationship between perceived limit-setting abilities, autism spectrum disorder severity, behaviour problems and parenting stress in mothers of children with autism spectrum disorder.

Science.gov (United States)

Reed, Phil; Howse, Jessie; Ho, Ben; Osborne, Lisa A

2017-11-01

Parenting stress in mothers of children with autism spectrum disorder (ASD) is high and impacts perceptions about parenting. This study examined the relationship between parenting stress and observer-perceived limit-setting ability. Participants' perceptions of other parents' limit-setting ability were assessed by showing participants video clips of parenting behaviours. Mothers of 93 children with autism spectrum disorder completed an online survey regarding the severity of their own child's autism spectrum disorder (Social Communication Questionnaire), their child's behaviour problems (Strengths and Difficulties Questionnaire) and their own levels of parenting stress (Questionnaire on Resources and Stress). They were shown five videos of other parents interacting with children with autism spectrum disorder and were asked to rate the limit-setting abilities observed in each video using the Parent-Child Relationship Inventory. Higher parenting stress negatively related to judgements about others' limit-setting skills. This mirrors the literature regarding the relationship between self-reported parenting stress and rating child behaviour more negatively. It suggests that stress negatively impacts a wide range of judgements and implies that caution may be required when interpreting the results of studies in which parenting skills are assessed by self-report.

Subclinical autism spectrum symptoms in pediatric obsessive-compulsive disorder.

Science.gov (United States)

Arildskov, Trine Wigh; Højgaard, David R M A; Skarphedinsson, Gudmundur; Thomsen, Per Hove; Ivarsson, Tord; Weidle, Bernhard; Melin, Karin Holmgren; Hybel, Katja A

2016-07-01

The literature on subclinical autism spectrum (ASD) symptoms in pediatric obsessive-compulsive disorder (OCD) is scarce, and it remains unclear whether ASD symptoms are related to OCD severity. The aims of the present study were to assess the prevalence of ASD symptoms and age and sex differences in children and adolescents with OCD, and to explore the relation between ASD symptoms and OCD severity. This is the largest study of ASD symptoms in an OCD population to date, and the first directly aimed at elucidating sex and age differences in this matter. The study used baseline data from the Nordic Long-term OCD Treatment Study in which parents of 257 children and adolescents with OCD aged 7-17 completed the Autism Spectrum Screening Questionnaire. OCD severity was assessed with the Children's Yale-Brown Obsessive Compulsive Scale. Pediatric OCD patients were found to exhibit elevated rates of ASD symptoms compared to a norm group of school-age children. ASD symptoms were concentrated in a subgroup with a prevalence of 10-17 %. This subgroup was characterized by a male preponderance with a sex ratio of approximately 2.6:1, while children versus adolescents with OCD exhibited similar rates. Autism-specific social and communication difficulties were not related to OCD severity, while restricted repetitive behavior was positively related to OCD severity. The results indicate that clinicians need to be aware of ASD symptoms in children and adolescents with OCD since one out of ten exhibits such symptoms at a clinical sub-threshold.

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

DEFF Research Database (Denmark)

Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

2014-01-01

. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo......-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye...... anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder....

The scope and impact of mobile health clinics in the United States: a literature review.

Science.gov (United States)

Yu, Stephanie W Y; Hill, Caterina; Ricks, Mariesa L; Bennet, Jennifer; Oriol, Nancy E

2017-10-05

As the U.S. healthcare system transforms its care delivery model to increase healthcare accessibility and improve health outcomes, it is undergoing changes in the context of ever-increasing chronic disease burdens and healthcare costs. Many illnesses disproportionately affect certain populations, due to disparities in healthcare access and social determinants of health. These disparities represent a key area to target in order to better our nation's overall health and decrease healthcare expenditures. It is thus imperative for policymakers and health professionals to develop innovative interventions that sustainably manage chronic diseases, promote preventative health, and improve outcomes among communities disenfranchised from traditional healthcare as well as among the general population. This article examines the available literature on Mobile Health Clinics (MHCs) and the role that they currently play in the U.S. healthcare system. Based on a search in the PubMed database and data from the online collaborative research network of mobile clinics MobileHealthMap.org , the authors evaluated 51 articles with evidence on the strengths and weaknesses of the mobile health sector in the United States. Current literature supports that MHCs are successful in reaching vulnerable populations, by delivering services directly at the curbside in communities of need and flexibly adapting their services based on the changing needs of the target community. As a link between clinical and community settings, MHCs address both medical and social determinants of health, tackling health issues on a community-wide level. Furthermore, evidence suggest that MHCs produce significant cost savings and represent a cost-effective care delivery model that improves health outcomes in underserved groups. Even though MHCs can fulfill many goals and mandates in alignment with our national priorities and have the potential to help combat some of the largest healthcare challenges of this era, there

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

Science.gov (United States)

Conti, Sara; Condò, Maria; Posar, Annio; Mari, Francesca; Resta, Nicoletta; Renieri, Alessandra; Neri, Iria; Patrizi, Annalisa; Parmeggiani, Antonia

2012-03-01

Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical features. At present, 24 patients with phosphatase and tensin homolog gene mutation, autism, macrocephaly, and some clinical findings described in phosphatase and tensin homolog syndromes have been reported in the literature. We describe a 14-year-old boy with autistic disorder, focal epilepsy, severe and progressive macrocephaly, and multiple papular skin lesions and palmoplantar punctate keratoses, characteristic of Cowden syndrome. The boy has a de novo phosphatase and tensin homolog gene mutation. Our patient is the first case described to present a typical Cowden syndrome and autism associated with epilepsy.

Antimicrobial therapies for odontogenic infections in children and adolescents. Literature review and clinical recomendations.

Directory of Open Access Journals (Sweden)

Inés Caviglia

2014-03-01

Full Text Available Oral infections are caused by an imbalance in the patient’s indigenous flora which changes from commensal to opportunistic. Odontogenic infections are the most common reason for consultation in children and adolescents. Rational use of antibiotics is the best strategy to avoid microbial resistance. Dental infections should first receive proper local treatment, which can also be complemented with a systemic method. Appropriate drug selection and dosing should be made. Amoxicilin is the first choice for antimicrobial agents in pediatric dentistry. Clindamycin and clarithromycin are the best alternative for patients with penicillin hypersensibility. In this literature review, the authors intended to establish clear clinical management guidelines for emergency treatment and subsequent final resolution.

Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.

Science.gov (United States)

Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Høyland, Anne Lise; Strohmaier, Jana; Heiberg, Arvid; Rietschel, Marcella; Djurovic, Srdjan; Andreassen, Ole A

2017-05-18

Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT ( p -values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child's development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

Scrub typhus: Clinical spectrum and outcome.

Science.gov (United States)

Venkategowda, Pradeep M; Rao, S Manimala; Mutkule, Dnyaneshwar P; Rao, Mallela V; Taggu, Alai N

2015-04-01

Scrub typhus is one of the differential diagnoses for fever with thrombocytopenia. ARDS associated with Scrub typhus has high morbidity and mortality. To evaluate clinical features, lab values, and outcome in patients with scrub typhus and comparison in patients with or without ARDS. A prospective observational study was conducted on 109 patients with febrile illness and thrombocytopenia during a period of 12 months. All 109 patients were tested with both Immune-chromatography test and Weil felix test. Patients having either Immune-chromatography test/Weil felix test positive have been included and considered as scrub typhus positive whereas negative for both Immune-chromatography and Weil felix test were excluded. Clinical features, lab parameters, and outcome were evaluated in all patients with scrub typhus. Statistical analysis used in this study was T-test. Among 58 patients who were included (After exclusion of 51 patients among total of 109 patients) 34 patients had no ARDS and 24 patients had ARDS. The clinical feature like dyspnoea, cough, low blood pressure (MAPscrub typhus patients group with ARDS. The higher titers of Weil-felix can be correlated with more severe form of disease according to our observation. All 34 Scrub typhus patients without ARDS recovered completely. Among 24 Scrub typhus patients with ARDS, 22 patients recovered, and 2 patients died. Scrub typhus is an important differential diagnosis in a patients having fever with thrombocytopenia. Scrub typhus associated with ARDS has high morbidity and mortality. Early diagnosis and treatment with doxycycline can prevent the occurrence of ARDS.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Science.gov (United States)

Agolini, E; Dentici, M L; Bellacchio, E; Alesi, V; Radio, F C; Torella, A; Musacchia, F; Tartaglia, M; Dallapiccola, B; Nigro, V; Digilio, M C; Novelli, A

2018-03-01

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Premorbid multivariate prediction of adult psychosis-spectrum disorder

DEFF Research Database (Denmark)

Schiffman, Jason; Kline, Emily; Jameson, Nicole D.

2015-01-01

whose parents had no mental illness, and children with at least one parent with a non-psychotic psychiatric diagnosis). Premorbid neurological factors and an indication of social function, as measured when participants were 10-13years of age, were combined to predict psychosis-spectrum disorders......Premorbid prediction of psychosis-spectrum disorders has implications for both understanding etiology and clinical identification. The current study used a longitudinal high-risk for psychosis design that included children of parents with schizophrenia as well as two groups of controls (children...

Interpersonal distance and social anxiety in autistic spectrum disorders: A behavioral and ERP study.

Science.gov (United States)

Perry, Anat; Levy-Gigi, Einat; Richter-Levin, Gal; Shamay-Tsoory, Simone G

2015-08-01

An inherent feature of social interactions is the use of social space or interpersonal distance-the space between one individual and another. Because social deficits are core symptoms of Autistic Spectrum Disorder (ASD), we hypothesized that individuals on this spectrum will exhibit abnormal interpersonal distance preferences. The literature on interpersonal distance in ASD is not conclusive. While some studies show preferences for closer distances among this group, others show preferences for farther distances than controls. A common symptom of ASD that may explain the variance in responses to interpersonal distance in this population is social anxiety (SA), which has been shown to correlate with interpersonal distance preferences. In the current study, we investigated interpersonal distance preferences in a group of individuals with ASD using both behavioral and ERP measures. We found greater variance in interpersonal distance preferences in the ASD group than in the control group. Furthermore, we showed that this variance can be explained by differences in SA level and can be predicted by the N1 amplitude, an early ERP component related to attention and discrimination processes. These results hint at the early sensory and attentional processes that may be affecting higher social behaviors, both in subclinical and in clinical populations.

A Randomized Clinical Trial of Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorders

Science.gov (United States)

2012-10-01

life for more able individuals with autism or Asperger syndrome. Autism , 4(1), 63-83. Kanner, L. (1971). Follow-up study of eleven autistic...Enhancement Therapy for Adults with Autism Spectrum Disorders PRINCIPAL INVESTIGATOR: Nancy J. Minshew, M.D. & Shaun M. Each, Ph.D...Therapy for Adults with Autism Spectrum Disorders 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0665 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR

Does restoration of focal lumbar lordosis for single level degenerative spondylolisthesis result in better patient-reported clinical outcomes? A systematic literature review.

Science.gov (United States)

Rhee, Chanseok; Visintini, Sarah; Dunning, Cynthia E; Oxner, William M; Glennie, R Andrew

2017-10-01

It is controversial whether the surgical restoration of sagittal balance and spinopelvic angulation in a single level lumbar degenerative spondylolisthesis results in clinical improvements. The purpose of this study to systematically review the available literature to determine whether the surgical correction of malalignment in lumbar degenerative spondylolisthesis correlates with improvements in patient-reported clinical outcomes. Literature searches were performed via Ovid Medline, Embase, CENTRAL and Web of Science using search terms "lumbar," "degenerative/spondylolisthesis" and "surgery/surgical/surgeries/fusion". This resulted in 844 articles and after reviewing the abstracts and full-texts, 13 articles were included for summary and final analysis. There were two Level II articles, four Level III articles and five Level IV articles. Most commonly used patient-reported outcome measures (PROMs) were Oswestery disability index (ODI) and visual analogue scale (VAS). Four articles were included for the final statistical analysis. There was no statistically significant difference between the patient groups who achieved successful surgical correction of malalignment and those who did not for either ODI (mean difference -0.94, CI -8.89-7.00) or VAS (mean difference 1.57, CI -3.16-6.30). Two studies assessed the efficacy of manual reduction of lumbar degenerative spondylolisthesis and their clinical outcomes after the operation, and there was no statistically significant improvement. Overall, the restoration of focal lumbar lordosis and restoration of sagittal balance for single-level lumbar degenerative spondylolisthesis does not seem to yield clinical improvements but well-powered studies on this specific topic is lacking in the current literature. Future well-powered studies are needed for a more definitive conclusion. Copyright © 2017 Elsevier Ltd. All rights reserved.

A Systematic Review of the Diagnostic Stability of Autism Spectrum Disorder

Science.gov (United States)

Woolfenden, Sue; Sarkozy, Vanessa; Ridley, Greta; Williams, Katrina

2012-01-01

There is debate in the current literature regarding the permanence of an Autism Spectrum Disorder (ASD) diagnosis. We undertook a systematic review of the diagnostic stability of ASD to summarise current evidence. A comprehensive search strategy was used to identify studies. Participants were children with ASD. Risk of bias was assessed by…

Prevalence and impact of extended-spectrum β-lactamase production on clinical outcomes in cancer patients with Enterobacter species bacteremia.

Science.gov (United States)

Kim, Sun Jong; Park, Ki-Ho; Chung, Jin-Won; Sung, Heungsup; Choi, Seong-Ho; Choi, Sang-Ho

2014-09-01

We examined the prevalence of extended-spectrum β-lactamase (ESBL) production and the impact of ESBL on clinical outcomes in cancer patients with Enterobacter spp. bacteremia. Using prospective cohort data on Enterobacter bacteremia obtained between January 2005 and November 2008 from a tertiary care center, the prevalence and clinical impact of ESBL production were evaluated. Two-hundred and three episodes of Enterobacter spp. bacteremia were identified. Thirty-one blood isolates (15.3%, 31/203) scored positive by the double-disk synergy test. Among 17 isolates in which ESBL genes were detected by polymerase chain reaction and sequencing, CTX-M (n = 12), SHV-12 (n = 11), and TEM (n = 4) were the most prevalent ESBL types. Prior usage of antimicrobial agents (77.4% vs. 54.0%, p = 0.02) and inappropriate empirical antimicrobial therapy (22.6% vs. 3.0%, p Enterobacter bacteremia. Although inappropriate empirical therapy was more common in the ESBL-positive group, ESBL production was not associated with poorer outcomes.

Unilateral Laterothoracic Exanthem – Asymmetric Periflexural Exanthem of Childhood – a Case Report and Literature Review

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Prćić Sonja

2017-06-01

Full Text Available Unilateral laterothoracic exanthem (ULE, or asymmetric periflexural exanthem of childhood (APEC, is an uncommon skin eruption that usually occurs in childhood, with unilateral distribution and self limiting course. The etiology of ULE is unknown, but viral cause is suspected. We report a case of ULE in a 4-year-old girl, that was associated with parvo virus B19 infection, and a brief selected literature review. The patient presented with unilateral maculopapular rash on the left side of the body which was asymptomatic and resolved spontaneously within 5 weeks. The clinical diagnosis of ULE may be precise, ruling out a broad spectrum of differential diagnosis, and prevent unnecessary examinations, whereas the patient is informed about the benign self-limiting nature of ULE.

The spectrum of motor function abnormalities in gastroesophageal reflux disease and Barrett's esophagus.

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Ang, D; Blondeau, K; Sifrim, D; Tack, J

2009-01-01

Barrett's esophagus has traditionally been regarded as the most severe end of the spectrum of gastroesophageal reflux disease and is of great clinical importance in view of the association with esophageal adenocarcinoma. Studies have documented high levels of esophageal acid exposure in Barrett's esophagus. Various pathogenetic mechanisms underlie this phenomenon. These include abnormalities in esophageal peristalsis, defective lower esophageal sphincter pressures, gastric dysmotility and bile reflux. Whilst these factors provide evidence for an acquired cause of Barrett's esophagus, an underlying genetic predisposition cannot be ruled out. Although the past decade has brought about many new discoveries in the pathogenesis of Barrett's esophagus, it has also added further controversy to this complex disorder. A detailed analysis of the gastrointestinal motor abnormalities occurring in Barrett's esophagus follows, with a review of the currently available literature and an update on this condition that continues to be of interest to the gastroenterologist.

Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates.

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Lochner, Christine; Hemmings, Sian M J; Kinnear, Craig J; Niehaus, Dana J H; Nel, Daniel G; Corfield, Valerie A; Moolman-Smook, Johanna C; Seedat, Soraya; Stein, Dan J

2005-01-01

Comorbidity of certain obsessive-compulsive spectrum disorders (OCSDs; such as Tourette's disorder) in obsessive-compulsive disorder (OCD) may serve to define important OCD subtypes characterized by differing phenomenology and neurobiological mechanisms. Comorbidity of the putative OCSDs in OCD has, however, not often been systematically investigated. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition , Axis I Disorders-Patient Version as well as a Structured Clinical Interview for Putative OCSDs (SCID-OCSD) were administered to 210 adult patients with OCD (N = 210, 102 men and 108 women; mean age, 35.7 +/- 13.3). A subset of Caucasian subjects (with OCD, n = 171; control subjects, n = 168), including subjects from the genetically homogeneous Afrikaner population (with OCD, n = 77; control subjects, n = 144), was genotyped for polymorphisms in genes involved in monoamine function. Because the items of the SCID-OCSD are binary (present/absent), a cluster analysis (Ward's method) using the items of SCID-OCSD was conducted. The association of identified clusters with demographic variables (age, gender), clinical variables (age of onset, obsessive-compulsive symptom severity and dimensions, level of insight, temperament/character, treatment response), and monoaminergic genotypes was examined. Cluster analysis of the OCSDs in our sample of patients with OCD identified 3 separate clusters at a 1.1 linkage distance level. The 3 clusters were named as follows: (1) "reward deficiency" (including trichotillomania, Tourette's disorder, pathological gambling, and hypersexual disorder), (2) "impulsivity" (including compulsive shopping, kleptomania, eating disorders, self-injury, and intermittent explosive disorder), and (3) "somatic" (including body dysmorphic disorder and hypochondriasis). Several significant associations were found between cluster scores and other variables; for example, cluster I scores were associated

Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

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Pedro de Sousa Gomes

2012-03-01

Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

A New Digital Signal Processing Method for Spectrum Interference Monitoring

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Angrisani, L.; Capriglione, D.; Ferrigno, L.; Miele, G.

2011-01-01

Frequency spectrum is a limited shared resource, nowadays interested by an ever growing number of different applications. Generally, the companies providing such services pay to the governments the right of using a limited portion of the spectrum, consequently they would be assured that the licensed radio spectrum resource is not interested by significant external interferences. At the same time, they have to guarantee that their devices make an efficient use of the spectrum and meet the electromagnetic compatibility regulations. Therefore the competent authorities are called to control the access to the spectrum adopting suitable management and monitoring policies, as well as the manufacturers have to periodically verify the correct working of their apparatuses. Several measurement solutions are present on the market. They generally refer to real-time spectrum analyzers and measurement receivers. Both of them are characterized by good metrological accuracies but show costs, dimensions and weights that make no possible a use "on the field". The paper presents a first step in realizing a digital signal processing based measurement instrument able to suitably accomplish for the above mentioned needs. In particular the attention has been given to the DSP based measurement section of the instrument. To these aims an innovative measurement method for spectrum monitoring and management is proposed in this paper. It performs an efficient sequential analysis based on a sample by sample digital processing. Three main issues are in particular pursued: (i) measurement performance comparable to that exhibited by other methods proposed in literature; (ii) fast measurement time, (iii) easy implementation on cost-effective measurement hardware.

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

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Gess, Burkhard; Auer-Grumbach, Michaela; Schirmacher, Anja; Strom, Tim; Zitzelsberger, Manuela; Rudnik-Schöneborn, Sabine; Röhr, Dominik; Halfter, Hartmut; Young, Peter; Senderek, Jan

2014-11-04

To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies. Patients were screened for mutations by genome-wide or targeted linkage and homozygosity studies, whole-exome sequencing, and Sanger sequencing. RNA and protein studies of skin fibroblasts were used for functional characterization. We describe 2 additional mutations in the HSJ1 gene in a cohort of 90 patients with autosomal recessive distal hereditary motor neuropathy (dHMN) and Charcot-Marie-Tooth disease type 2 (CMT2). One family with a dHMN phenotype showed the homozygous splice-site mutation c.229+1G>A, which leads to retention of intron 4 in the HSJ1 messenger RNA with a premature stop codon and loss of protein expression. Another family, presenting with a CMT2 phenotype, carried the homozygous missense mutation c.14A>G (p.Tyr5Cys). This mutation was classified as likely disease-related by several automatic algorithms for prediction of possible impact of an amino acid substitution on the structure and function of proteins. Both mutations cosegregated with autosomal recessive inheritance of the disease and were absent from the general population. Taken together, in our cohort of 90 probands, we confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2. We provide clinical and functional information on an HSJ1 splice-site mutation and report the detailed phenotype of 2 patients with CMT2, broadening the phenotypic spectrum of HSJ1-related neuropathies. © 2014 American Academy of Neurology.

Understanding and managing sleep disruption in children with fetal alcohol spectrum disorder.

Science.gov (United States)

Hanlon-Dearman, Ana; Chen, Maida Lynn; Olson, Heather Carmichael

2018-04-01

Accumulating evidence has revealed high rates of sleep disruption among children with fetal alcohol spectrum disorder (FASD). Multiple animal and clinical studies have found a clear association between sleep problems and prenatal alcohol exposure, and recent research is beginning to characterize the types and extent of sleep disruption in FASD. Nevertheless, sleep disruption in children with FASD often goes unrecognized or is treated without referring to an evidence base. Children's disrupted sleep interferes with parental sleep and increases caregiver burden, which is of particular importance for families raising children with FASD, a group with very high levels of caregiving stress. The literature supporting an association between sleep problems and deficits in emotional, behavioral, and cognitive function in children is compelling, but needs further investigation in children with FASD. This paper will review the current state of knowledge on sleep in FASD and recommend a rational approach to sleep interventions for affected children and their families.

Self-harm in patients with schizophrenia spectrum disorders.

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Mork, Erlend; Mehlum, Lars; Barrett, Elizabeth A; Agartz, Ingrid; Harkavy-Friedman, Jill M; Lorentzen, Steinar; Melle, Ingrid; Andreassen, Ole A; Walby, Fredrik A

2012-01-01

This study describes the prevalence, clinical characteristics, and gender profile of self-harm in a cross-sectional sample of 388 patients with schizophrenia spectrum disorders. All patients were interviewed and assessed with respect to lifetime self-harm and relevant clinical variables. An overall of 49% of the patients reported self-harm which was associated with female gender, having had a depressive episode, younger age at psychosis onset, alcohol abuse or dependence, current suicidality, awareness of illness, and low adherence to prescribed medication. Higher awareness of having a mental disorder was associated with self-harm in men only, while emotional dysregulation was associated with self-harm in women only. We conclude that while self-harm in patients with schizophrenia spectrum disorders is highly prevalent in both genders, risk factors in men and women differ in several important ways.

PROSPECTS OF DIAGNOSTICS OF AUTISM SPECTRUM DISORDERS IN CHILDREN

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O. G. Novoselova

2014-01-01

Full Text Available The relevance of a problem of autism spectrum disorder in children and the modern view on etiology and pathogenesis of these states are revealed in the article. Autism classification according to the International classification of diseases of the 10th revision adopted in Russia and important changes of a new classifier of the American psychiatric association concerning autism spectrum disorders are considered. The difficulties connected with diagnostics of autism spectrum disorders in children, autism comorbidity and some other psychiatric nosologies and the necessity of detailed differential diagnostics for a circle of these diseases are mentioned. Autism spectrum disorders are presented from the point of view of clinical genetics, the necessity of medical genetic consultation in diagnosing is proved. Definition of complex and essential autism is given. A number of widespread genetic syndromes with the description of clinical characteristics and molecular genetic mechanisms underlying the pathogenesis is allocated in the group of complex autism. Difficulties of molecular genetic confirmation of the diagnosis are revealed, the algorithm of search of mutations and the short description of methods of diagnostics are given. The efficiency of standard procedure of molecular genetic diagnostics at each stage, according to literary data, is shown in the group of children with essential autism. The opportunities and advantages of a method of the chromosomal micromatrix analysis as one of available modern methods of molecular genetic diagnostics in the group of children with autism spectrum disorders are highlighted on the example of extended microdeletion and microduplicational syndromes.

Singular spectrum analysis of sleep EEG in insomnia.

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Aydın, Serap; Saraoǧlu, Hamdi Melih; Kara, Sadık

2011-08-01

In the present study, the Singular Spectrum Analysis (SSA) is applied to sleep EEG segments collected from healthy volunteers and patients diagnosed by either psycho physiological insomnia or paradoxical insomnia. Then, the resulting singular spectra computed for both C3 and C4 recordings are assigned as the features to the Artificial Neural Network (ANN) architectures for EEG classification in diagnose. In tests, singular spectrum of particular sleep stages such as awake, REM, stage1 and stage2, are considered. Three clinical groups are successfully classified by using one hidden layer ANN architecture with respect to their singular spectra. The results show that the SSA can be applied to sleep EEG series to support the clinical findings in insomnia if ten trials are available for the specific sleep stages. In conclusion, the SSA can detect the oscillatory variations on sleep EEG. Therefore, different sleep stages meet different singular spectra. In addition, different healthy conditions generate different singular spectra for each sleep stage. In summary, the SSA can be proposed for EEG discrimination to support the clinical findings for psycho-psychological disorders.

Madura foot: two case reports, review of the literature, and new developments with clinical correlation

Energy Technology Data Exchange (ETDEWEB)

White, Eric A. [University of Southern California, Department of Radiology, Los Angeles, CA (United States); Patel, Dakshesh B.; Forrester, Deborah M.; Gottsegen, Christopher J.; O' Rourke, Emily; Holtom, Paul; Charlton, Timothy; Matcuk, George R. [USC University Hospital, Los Angeles, CA (United States)

2014-04-15

''Madura foot'' or pedal mycetoma is a rare destructive infection of the skin and subcutaneous tissues of the foot, progressing to involve muscle and bone. The infection can be caused by both bacteria and fungi. Infection typically follows traumatic implantation of bacteria or fungal spores, which are present in soil or on plant material. Clinically, this entity can be difficult to diagnose and can have an indolent and progressive course. Early diagnosis is important to prevent patient morbidity and mortality. We present two cases of pedal mycetoma, review the literature, review new developments in diagnosis, and discuss magnetic resonance imaging (MRI) features of this unusual entity. (orig.)

Cytomorphologic spectrum of Hashimoto′s thyroiditis and its clinical correlation: A retrospective study of 52 patients

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Shirish S Chandanwale

2014-01-01

Full Text Available Background: Hashimoto′s thyroiditis (HT is an autoimmune disease and it is more prevalent in Asians. The incidence of HT seems to be increasing in the recent times. It is one of the most common cause of hypothyroidism. The purpose of this study is to review the cytomorphologic spectrum of HT and correlate it with clinical findings including thyroid function and antibody profile. Materials and Methods: We retrospectively analyzed the fine-needle aspiration (FNA features of 52 HT patients. Based on cytomorphologic features patients were categorized into three groups. Clinical findings including thyroid function and thyroid peroxidase (TPO antibody profile were correlated with cytomorphologic features in all three groups. Results: Majority of the patients were females and in 2 nd , 3 rd and 4 th decades. Diffuse goiter and thyroid hypofunction were the common findings. Significant number of patients had thyroid hyperfunction. Increased lymphocytes on the background and lymphocytic infiltration of thyroid follicular cell clusters in cytology smears were diagnostic of HT. The 32 patients showed elevated titers of TPO antibodies. In the early stages and mild form of the disease, results of thyroid function and anti TPO antibodies are quite variable. Conclusions: HT is a disease of young and middle age and mostly occur in females. Clinical findings alone may not be adequate for definitive diagnosis. FNA is the gold standard for diagnosis. In the presence of abundant colloid, follicular hyperplasia or co-existing neoplasm, careful interpretation of cytology smears should be done. Aspiration from more than one site minimizes the diagnostic pitfalls.

Gender identity and sexual orientation in autism spectrum disorder.

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George, Rita; Stokes, Mark A

2017-09-01

Clinical impressions indicate that there is an overrepresentation of gender-dysphoria within the autism spectrum disorder. However, little is presently known about the demographics of gender-identity issues in autism spectrum disorder. Based upon what little is known, we hypothesized that there would be an increased prevalence of gender-dysphoria among those with autism spectrum disorder compared to a typically developing population. We surveyed gender-dysphoria with the Gender-Identity/Gender-Dysphoria Questionnaire among 90 males and 219 females with autism spectrum disorder and compared these rates to those of 103 males and 158 females without autism spectrum disorder. When compared to typically developing individuals, autistic individuals reported a higher number of gender-dysphoric traits. Rates of gender-dysphoria in the group with autism spectrum disorder were significantly higher than reported in the wider population. Mediation analysis found that the relationship between autistic traits and sexual orientation was mediated by gender-dysphoric traits. Results suggest that autism spectrum disorder presents a unique experience to the formation and consolidation of gender identity, and for some autistic individuals, their sexual orientation relates to their gender experience. It is important that clinicians working with autism spectrum disorder are aware of the gender-diversity in this population so that the necessary support for healthy socio-sexual functioning and mental well-being is provided.

Technology-Aided Interventions and Instruction for Adolescents with Autism Spectrum Disorder

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Odom, Samuel L.; Thompson, Julie L.; Hedges, Susan; Boyd, Brian A.; Dykstra, Jessica R.; Duda, Michelle A.; Szidon, Kathrine L.; Smith, Leann E.; Bord, Aimee

2015-01-01

The use of technology in intervention and instruction for adolescents with autism spectrum disorder (ASD) is increasing at a striking rate. The purpose of this paper is to examine the research literature underlying the use of technology in interventions and instruction for high school students with ASD. In this paper, authors propose a theoretical…

Some new approaches for prevention of schizophrenia spectrum disorders in patients exposed to exogenous stressors

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Nataliya Dzeruzhinska

2017-08-01

Full Text Available Background. Environment factors affect to the clinical phenotype of schizophrenia spectrum disorders. Aim. To develop recommendations for the prevention schizophrenia spectrum disorders considering the influence of environmental factors on the clinical pathomorphosis of the disease. Methods. It was conducted the psychopathological and psychodiagnostic survey of 186 patients with schizophrenia spectrum disorders with an assessment of clinical features and level of social functioning. It was identified factors that have the most significant pathological effects on the course of disorders on the basis of the received data: the using of a cannabinoid in a family history, mother`s infectious and somatic diseases during pregnancy, mother's using alcohol during pregnancy, consumption of alcohol in adolescent patients, fetal hypoxia or perinatal trauma of the patient at birth, problems with the group of primary support in the family of a child in childhood, maternal toxicosis, crisis relationships in the family, migration to different cultural environment. Results. Clinical pathomorphism of disorders of the spectrum of schizophrenia under the influence of environmental factors determines the features of psychotherapeutic interventions. In people with cannabinoids, it is important to eliminate the symptoms of anxiety through emotion-supportive measures, as well as to create a motivation to ask help in case of symptoms of schizophrenia spectrum disorders. In a group with perinatal complications, the emphasis should be put on cognitive methods in order to correct mental disorders and overcome hypochondria. Early measures to form a positive attitude towards themselves and the environment, supporting family relationships, overcoming depressive symptoms, and developing social activity are targets of psychotherapeutic interventions in people with schizophrenic spectrum disorders and psychological traumatic events. Conclusion. Minimization of environmental

Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

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Zwaigenbaum, Lonnie; Bryson, Susan; Lord, Catherine; Rogers, Sally; Carter, Alice; Carver, Leslie; Chawarska, Kasia; Constantino, John; Dawson, Geraldine; Dobkins, Karen; Fein, Deborah; Iverson, Jana; Klin, Ami; Landa, Rebecca; Messinger, Daniel; Ozonoff, Sally; Sigman, Marian; Stone, Wendy; Tager-Flusberg, Helen; Yirmiya, Nurit

2010-01-01

With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group. PMID:19403506

Atomic and ionic spectrum lines below 2000A: hydrogen through argon

International Nuclear Information System (INIS)

Kelly, R.L.

1982-10-01

A critical tabulation of observed spectral lines below 2000 angstroms has been prepared from the published literature up to July 1978. It is intended principally as an aid to those physicists and astronomers who deal with the spectra of highly stripped atoms. This report includes the first 18 elements, from hydrogen (including deuterium) through argon. The tabulation is divided into two main sections: the spectrum lines by spectrum, and a finding list. The entries for each element give the ionization species, ground state term, and ionization potential, as well as the best values of vacuum wavelength, intensity, and classification. A list of the pertinent references is appended at the end

Modeling and analysis of the spectrum of the globular cluster NGC 2419

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Sharina, M. E.; Shimansky, V. V.; Davoust, E.

2013-06-01

The properties of the stellar population of the unusual object NGC 2419 are studied; this is the most distant high-mass globular cluster of the Galaxy's outer halo, and a spectrum taken with the 1.93-m telescope of the Haute Provence Observatory displays elemental abundance anomalies. Since traditional high-resolution spectroscopicmethods are applicable to bright stars only, spectroscopic information for the cluster's stellar population as a whole, integrated along the spectrograph slit placed in various positions, is used. Population synthesis is carried out for the spectrum of NGC 2419 using synthetic spectra calculated from a grid of stellar model atmospheres, based on the theoretical isochrone from the literature that best fits the color-magnitude diagram of the cluster. The derived age (12.6 billion years), metallicity ([Fe/H] = -2.25 dex), and abundances of helium ( Y = 0.26) and other chemical elements (a total of 14) are in a good qualitative agreement with estimates from the literature made from high-resolution spectra of eight red giants in the cluster. The influence on the spectrum of deviations from local thermodynamic equilibrium is considered for several elements. The derived abundance of α-elements ([ α/Fe] = 0.13 dex, as the mean of [O/Fe], [Mg/Fe], and [Ca/Fe]) differs from the mean value in the literature ([ α/Fe] = 0.4 for the eight brightest red giants) and may be explained by recently discovered in NGC2419 large [a/Fe] dispersion. Further studies of the integrated properties of the stellar population in NGC 2419 using higher-resolution spectrographs in various wavelength ranges should help improve our understanding of the cluster's chemical anomalies.

Spectrum of Endocrine Disorders in Central Ghana

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Osei Sarfo-Kantanka

2017-01-01

Full Text Available Background. Although an increasing burden of endocrine disorders is recorded worldwide, the greatest increase is occurring in developing countries. However, the spectrum of these disorders is not well described in most developing countries. Objective. The objective of this study was to profile the frequency of endocrine disorders and their basic demographic characteristics in an endocrine outpatient clinic in Kumasi, central Ghana. Methods. A retrospective review was conducted on endocrine disorders seen over a five-year period between January 2011 and December 2015 at the outpatient endocrine clinic of Komfo Anokye Teaching Hospital. All medical records of patients seen at the endocrine clinic were reviewed by endocrinologists and all endocrinological diagnoses were classified according to ICD-10. Results. 3070 adults enrolled for care in the endocrine outpatient service between 2011 and 2015. This comprised 2056 females and 1014 males (female : male ratio of 2.0 : 1.0 with an overall median age of 54 (IQR, 41–64 years. The commonest primary endocrine disorders seen were diabetes, thyroid, and adrenal disorders at frequencies of 79.1%, 13.1%, and 2.2%, respectively. Conclusions. Type 2 diabetes and thyroid disorders represent by far the two commonest disorders seen at the endocrine clinic. The increased frequency and wide spectrum of endocrine disorders suggest the need for well-trained endocrinologists to improve the health of the population.

Addendum to "Gluten-Free and Casein-Free Diets in Treatment of Autism Spectrum Disorders: A Systematic Review"

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Mulloy, Austin; Lang, Russell; O'Reilly, Mark; Sigafoos, Jeff; Lancioni, Giulio; Rispoli, Mandy

2011-01-01

Shortly after the publication of our literature review on gluten-free and casein-free (GFCF) diets in the treatment of autism spectrum disorders (ASD; Mulloy et al., 2010), Whiteley et al. (2010) published the results of experimental evaluation of a GFCF diet. To update our previous literature review, we herein provide an analysis of the Whiteley…

Broad- versus Narrow-Spectrum Oral Antibiotic Transition and Outcomes in Health Care-associated Pneumonia.

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Buckel, Whitney R; Stenehjem, Edward; Sorensen, Jeff; Dean, Nathan; Webb, Brandon

2017-02-01

Guidelines recommend a switch from intravenous to oral antibiotics once patients who are hospitalized with pneumonia achieve clinical stability. However, little evidence guides the selection of an oral antibiotic for patients with health care-associated pneumonia, especially where no microbiological diagnosis is made. To compare outcomes between patients who were transitioned to broad- versus narrow-spectrum oral antibiotics after initially receiving broad-spectrum intravenous antibiotic coverage. We performed a secondary analysis of an existing database of adults with community-onset pneumonia admitted to seven Utah hospitals. We identified 220 inpatients with microbiology-negative health care-associated pneumonia from 2010 to 2012. After excluding inpatient deaths and treatment failures, 173 patients remained in which broad-spectrum intravenous antibiotics were transitioned to an oral regimen. We classified oral regimens as broad-spectrum (fluoroquinolone) versus narrow-spectrum (usually a β-lactam). We compared demographic and clinical characteristics between groups. Using a multivariable regression model, we adjusted outcomes by severity (electronically calculated CURB-65), comorbidity (Charlson Index), time to clinical stability, and length of intravenous therapy. Age, severity, comorbidity, length of intravenous therapy, and clinical response were similar between the two groups. Observed 30-day readmission (11.9 vs. 21.4%; P = 0.26) and 30-day all-cause mortality (2.3 vs. 5.3%; P = 0.68) were also similar between the narrow and broad oral antibiotic groups. In multivariable analysis, we found no statistically significant differences for adjusted odds of 30-day readmission (adjusted odds ratio, 0.56; 95% confidence interval, 0.06-5.2; P = 0.61) or 30-day all-cause mortality (adjusted odds ratio, 0.55; 95% confidence interval, 0.19-1.6; P = 0.26) between narrow and broad oral antibiotic groups. On the basis of analysis of a limited number of patients

PER-8, a Novel Extended-Spectrum β-Lactamase PER Variant, from an Acinetobacter baumannii Clinical Isolate in Nepal.

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Tada, Tatsuya; Shrestha, Shovita; Shimada, Kayo; Ohara, Hiroshi; Sherchand, Jeevan B; Pokhrel, Bharat M; Kirikae, Teruo

2017-03-01

A novel PER-type extended-spectrum β-lactamase, PER-8, was identified in an Acinetobacter baumannii clinical isolate obtained in Nepal. The amino acid sequence of PER-8 has a substitution at position 39 (Gly to Glu) compared with that of PER-7. The k cat / K m ratio of PER-8 for aztreonam was lower than that of PER-7, while the k cat / K m ratio of PER-8 for imipenem was higher than that of PER-7. The genomic environment surrounding bla PER-8 was intI1 bla PSE-1 qacEDI sulI IS CR1-bla PER-8 gts sulI orfX on a 100-kb plasmid. Copyright © 2017 American Society for Microbiology.

Peripheral vestibular vertigo: clinical spectrum and review of ...

African Journals Online (AJOL)

Benign paroxysmal positional vertigo 33 (25%), Labyrinthitis 23(17%), menieres disease 19(14%) and cervical spondylosis 14(10.5%) were the leading clinical diagnoses. Trauma accounted for 35% of the aetiological factors while17%was idiopathic. Clinical examination remains the prime technique in accurate diagnosis ...

Cognitive behavioral therapy for early adolescents with autism spectrum disorders and clinical anxiety: a randomized, controlled trial.

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Wood, Jeffrey J; Ehrenreich-May, Jill; Alessandri, Michael; Fujii, Cori; Renno, Patricia; Laugeson, Elizabeth; Piacentini, John C; De Nadai, Alessandro S; Arnold, Elysse; Lewin, Adam B; Murphy, Tanya K; Storch, Eric A

2015-01-01

Clinically elevated anxiety is a common, impairing feature of autism spectrum disorders (ASD). A modular CBT program designed for preteens with ASD, Behavioral Interventions for Anxiety in Children with Autism (BIACA; Wood et al., 2009) was enhanced and modified to address the developmental needs of early adolescents with ASD and clinical anxiety. Thirty-three adolescents (11-15 years old) were randomly assigned to 16 sessions of CBT or an equivalent waitlist period. The CBT model emphasized exposure, challenging irrational beliefs, and behavioral supports provided by caregivers, as well as numerous ASD-specific treatment elements. Independent evaluators, parents, and adolescents rated symptom severity at baseline and posttreatment/postwaitlist. In intent-to-treat analyses, the CBT group outperformed the waitlist group on independent evaluators' ratings of anxiety severity on the Pediatric Anxiety Rating Scale (PARS) and 79% of the CBT group met Clinical Global Impressions-Improvement scale criteria for positive treatment response at posttreatment, as compared to only 28.6% of the waitlist group. Group differences were not found for diagnostic remission or questionnaire measures of anxiety. However, parent-report data indicated that there was a positive treatment effect of CBT on autism symptom severity. The CBT manual under investigation, enhanced for early adolescents with ASD, yielded meaningful treatment effects on the primary outcome measure (PARS), although additional developmental modifications to the manual are likely warranted. Future studies examining this protocol relative to an active control are needed. Copyright © 2014. Published by Elsevier Ltd.

[Formula: see text]Current knowledge on motor disorders in children with autism spectrum disorder (ASD).

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Paquet, A; Olliac, B; Golse, B; Vaivre-Douret, L

2016-01-01

Motor symptomatology in autism is currently poorly understood, and still not included in the autism spectrum disorder (ASD) diagnostic criteria, although some studies suggest the presence of motor disturbances in this syndrome. We provide here a literature review on early motor symptoms in autism, focusing on studies on psychomotor issues (tone, postural control, manual dexterity, handedness, praxis). The approach adopted in research to study altered motor behaviors is generally global and there is no detailed semiology of the motor or neuromotor disorders observed in people with ASD. This global approach does not enable understanding of the neuro-developmental mechanisms involved in ASD. Identification of clinical neuro-psychomotor profiles in reference to a standard would help to better understand the origin and the nature of the disorders encountered in ASD, and would thus give new directions for treatment.

Untended Wounds: Non-Suicidal Self-Injury in Adults with Autism Spectrum Disorder

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Maddox, Brenna B.; Trubanova, Andrea; White, Susan W.

2017-01-01

Recent studies have examined non-suicidal self-injury in community and clinical samples, but there is no published research on non-suicidal self-injury in individuals with autism spectrum disorder. This lack of research is surprising, since individuals with autism spectrum disorder have high rates of risk factors for non-suicidal self-injury,…

Parents’ Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder—Data from a Norwegian Sample

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Jarle Johannessen

2017-05-01

Full Text Available Clinical genetic testing (CGT of children with autism spectrum disorder (ASD may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents’ attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child’s ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49–67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child’s future and cause family conflicts. Parents against CGT (9% were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children’s ASD diagnosis had a weak positive association with parent’s positive attitudes to CGT (p-values range from <0.001 to 0.975. Parents prefer that CGT is offered to those having a child with ASD (65%, when the child’s development deviates from normal (48%, or before pregnancy (36%. A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

Necrotizing fasciitis: case series and review of the literature on clinical and medico-legal diagnostic challenges.

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Fais, Paolo; Viero, Alessia; Viel, Guido; Giordano, Renzo; Raniero, Dario; Kusstatscher, Stefano; Giraudo, Chiara; Cecchetto, Giovanni; Montisci, Massimo

2018-04-07

Necrotizing fasciitis (NF) is a life-threatening infection of soft tissues spreading along the fasciae to the surrounding musculature, subcutaneous fat and overlying skin areas that can rapidly lead to septic shock and death. Due to the pandemic increase of medical malpractice lawsuits, above all in Western countries, the forensic pathologist is frequently asked to investigate post-mortem cases of NF in order to determine the cause of death and to identify any related negligence and/or medical error. Herein, we review the medical literature dealing with cases of NF in a post-mortem setting, present a case series of seven NF fatalities and discuss the main ante-mortem and post-mortem diagnostic challenges of both clinical and forensic interests. In particular, we address the following issues: (1) origin of soft tissue infections, (2) micro-organisms involved, (3) time of progression of the infection to NF, (4) clinical and histological staging of NF and (5) pros and cons of clinical and laboratory scores, specific forensic issues related to the reconstruction of the ideal medical conduct and the evaluation of the causal value/link of any eventual medical error.

Robust Spectrum Sensing Demonstration Using a Low-Cost Front-End Receiver

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Daniele Borio

2015-01-01

Full Text Available Spectrum Sensing (SS is an important function in Cognitive Radio (CR to detect primary users. The design of SS algorithms is one of the most challenging tasks in CR and requires innovative hardware and software solutions to enhance detection probability and minimize low false alarm probability. Although several SS algorithms have been developed in the specialized literature, limited work has been done to practically demonstrate the feasibility of this function on platforms with significant computational and hardware constraints. In this paper, SS is demonstrated using a low cost TV tuner as agile front-end for sensing a large portion of the Ultra-High Frequency (UHF spectrum. The problems encountered and the limitations imposed by the front-end are analysed along with the solutions adopted. Finally, the spectrum sensor developed is implemented on an Android device and SS implementation is demonstrated using a smartphone.

Presence of Cuba in the nuclear literature of INIS database

International Nuclear Information System (INIS)

Guerra Valdes, Ramiro

2009-01-01

A descriptive outline of the Cuban collection of nuclear literature of INIS database is presented. The methods for analytical processing and information visualization of large document collections developed at Cubaenergia are described. Results of thematic content analysis and countries of input and authorship are reported. Furthermore, the thematic content spectrum of INIS (1970/01 - 2009/09) database taken as standard reference for the bibliometric analysis is shown. The results allow to asses the Cuban nuclear literature, its thematic scope and international range in the context of the present state of the nuclear science and technology. (author)

Presence of Cuba in the nuclear literature of INIS database

International Nuclear Information System (INIS)

Guerra Valdes, Ramiro

2010-01-01

A descriptive outline of the Cuban collection of nuclear literature of INIS database is presented. The methods for analytical processing and information visualization of large document collections developed at CUBAENERGIA are described. Results of thematic content analysis and countries of input and authorship are reported. Furthermore, the thematic content spectrum of INIS (1970/01 - 2009/09) database taken as standard reference for the bibliometric analysis is shown. The results allow to asses the Cuban nuclear literature, its thematic scope and international range in the context of the present state of the nuclear science and technology. (author)

Suspected bacterial meningomyelitis: The first presenting clinical feature of neuromyelitis optica spectrum disorder.

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Li, Xiang; Lin, Jie; Pan, Sipei; Weng, Yiyun; Li, Jia; Zhang, Xu; Xia, Junhui; Tong, Qiaowen

2017-08-15

A rare case of neuromyelitis optica spectrum disorder, suspected to be bacterial meningomyelitis as the initial manifestation, is reported. The patient presented with initial symptoms of meningomyelitis and fever. Cerebrospinal fluid analysis revealed pleocytosis (1280×10 6 /L [98% lymphocytes]) and glucose level of 1.8mmol/L. Magnetic resonance imaging revealed >3 vertebral, longitudinally extensive transverse myelitis and area postrema lesions. Right optic neuritis was experienced 20months after the first attack. Serum anti-aquaporin-4 antibody was positive, and a diagnosis of neuromyelitis optica spectrum disorder was made, supporting the hypothesis that the pathogenesis of neuromyelitis optica is triggered by infection. Copyright © 2017. Published by Elsevier B.V.

Autism Spectrum Symptoms in a Tourette's Disorder Sample

NARCIS (Netherlands)

Darrow, Sabrina M.; Grados, Marco; Sandor, Paul; Hirschtritt, Matthew E.; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.; Mathews, Carol A.

Objective: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

Autism Spectrum Symptoms in a Tourette's Disorder Sample

NARCIS (Netherlands)

Darrow, Sabrina M; Grados, Marco A; Sandor, Paul; Hirschtritt, Matthew E; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

2017-01-01

Objective Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

Nonlocal matching condition and scale-invariant spectrum in bouncing cosmology

International Nuclear Information System (INIS)

Chu, C.-S.; Furuta, K.; Lin, F.-L.

2006-01-01

In cosmological scenarios such as the pre-big bang scenario or the ekpyrotic scenario, a matching condition between the metric perturbations in the pre-big bang phase and those in the post big bang phase is often assumed. Various matching conditions have been considered in the literature. Nevertheless obtaining a scale-invariant CMB spectrum via a concrete mechanism remains impossible. In this paper, we examine this problem from the point of view of local causality. We begin with introducing the notion of local causality and explain how it constrains the form of the matching condition. We then prove a no-go theorem: independent of the details of the matching condition, a scale-invariant spectrum is impossible as long as the local causality condition is satisfied. In our framework, it is easy to show that a violation of local causality around the bounce is needed in order to give a scale-invariant spectrum. We study a specific scenario of this possibility by considering a nonlocal effective theory inspired by noncommutative geometry around the bounce and show that a scale-invariant spectrum is possible. Moreover we demonstrate that the magnitude of the spectrum is compatible with observations if the bounce is assumed to occur at an energy scale which is a few orders of magnitude below the Planckian energy scale

Marking out the clinical expert/clinical leader/clinical scholar: perspectives from nurses in the clinical arena

OpenAIRE

Mannix, Judy; Wilkes, Lesley; Jackson, Debra

2013-01-01

Background Clinical scholarship has been conceptualised and theorised in the nursing literature for over 30?years but no research has captured nurses? clinicians? views on how it differs or is the same as clinical expertise and clinical leadership. The aim of this study was to determine clinical nurses? understanding of the differences and similarities between the clinical expert, clinical leader and clinical scholar. Methods A descriptive interpretative qualitative approach using semi-struct...

Epidermoid Cysts – A Wide Spectrum of Clinical Presentation and Successful Treatment by Surgery: A Retrospective 10-Year Analysis and Literature Review

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Uwe Wollina

2018-01-01

Full Text Available Epidermoid cysts are common benign lesions of hair-bearing, and less often glabrous skin. They can also occur in oral mucosa and internal organs. In case of cutaneous lesions, an epidermal punctum is a clinical diagnostic hallmark. The clinical presentation is variable leading to some differential diagnoses. Diagnosis of epidermoid cysts needs histopathological confirmation – not only of the potential of malignant transformation. The treatment of choice is surgery. We report a retrospective analysis of 2159 epidermoid cysts treated surgically. Most of the cases can be performed under local anaesthesia. The complication rate of 2.2% is low. To avoid relapses, the cyst wall has to be removed completely. Rare genetic disorders with multiple cysts are Gardner and Lowe syndrome.

Preparing Transition-Age Students with High-Functioning Autism Spectrum Disorders for Meaningful Work

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Lee, Gloria K.; Carter, Erik W.

2012-01-01

This article provides an overview of promising essential elements for fostering vocational success among students with high-functioning autism spectrum disorders (HFASDs) by drawing literature from the fields of school-to-work transition for post-secondary students and vocational rehabilitation for individuals with disabilities. We highlight seven…

Levels of Evidence in the Clinical Sports Medicine Literature: Are We Getting Better Over Time?

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Grant, Heather M; Tjoumakaris, Fotios P; Maltenfort, Mitchell G; Freedman, Kevin B

2014-07-01

There has been an increased emphasis on improving the level of evidence used as the basis for clinical treatment decisions. Several journals now require a statement of the level of evidence as a basic gauge of the study's strength. To review the levels of evidence in published articles in the clinical sports medicine literature and to determine if there has been an improvement in the levels of evidence published over the past 15 years. Systematic review. All articles from the years 1995, 2000, 2005, and 2010 in The American Journal of Sports Medicine (AJSM), Arthroscopy, and sports medicine-related articles from The Journal of Bone and Joint Surgery-American (JBJS-A) were analyzed. Articles were categorized by type and ranked for level of evidence according to guidelines from the Centre for Evidence-Based Medicine. Excluded were animal, cadaveric, and basic science articles; editorials; surveys; special topics; letters to the editor; and correspondence. Statistical analysis was performed with chi-square. A total of 1580 articles over the 4 periods met the inclusion criteria. The percentage of level 1 and 2 studies increased from 6.8% to 12.6%, 22.9%, and 23.5%, respectively (P studies decreased from 78.9% to 72.4%, 63.9%, and 53.0% (P studies (4.1%, 5.1%, 28.2%, 27.8%; P studies all showed significant increases in level 1 and 2 studies over time (P studies published in the sports medicine literature over the past 15 years, particularly in JBJS-A and AJSM. The largest increase was seen in diagnostic studies, while therapeutic and prognostic studies demonstrated modest improvement. The emphasis on increasing levels of evidence to guide treatment decisions for sports medicine patients may be taking effect. © 2014 The Author(s).

Energy-density spectrum of the vacuum around a cosmic string

International Nuclear Information System (INIS)

Sarmiento, A.; Hacyan, S.

1988-01-01

The explicit form of the spectrum of the energy density of the vacuum surrounding a cosmic string as would be seen by an observer at rest is calculated. Spin-0, -half, or -1 massless fields are considered and it is found that the result is independent of the spin value. An interpretation which differs from the one usually found in the literature is also given

Hadron spectrum in quenched lattice QCD and quark potential models

International Nuclear Information System (INIS)

Iwasaki, Y.; Yoshie, T.

1989-01-01

We show that the quenched lattice QCD gives a hadron spectrum which remarkably agrees with that of quark potential models for quark mass m q ≥ m strange , even when one uses the standard one-plaquette gauge action. This is contrary to what is stated in the literature. We clarify the reason of the discrepancy, paying close attention to systematic errors in numerical calculations. (orig.)

Diagnostic criteria and treatment of discogenic pain: a systematic review of recent clinical literature.

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Malik, Khalid M; Cohen, Steven P; Walega, David R; Benzon, Honorio T

2013-11-01

Pain innate to intervertebral disc, often referred to as discogenic pain, is suspected by some authors to be the major source of chronic low back and neck pain. Current management of suspected discogenic pain lacks standardized diagnosis, treatment, and terminology. In an attempt to determine whether patterns existed that may facilitate standardization of care, we sought to analyze the terminologies used and the various modes of diagnosis and treatment of suspected discogenic pain. A systematic review of the recent literature. A Medline search was performed using the terms degenerative disc disease, discogenic pain, internal disc disruption while using the limits of human studies, English language, and clinical trials, for the last 10 years. The search led to a total of 149 distinct citations, of which 53 articles, where the intervertebral disc itself was considered the principal source of patient's pain and was the main target of the treatment, were retained for further analysis. The results of this review confirm and help quantify the significant differences that existed in the terminology and all the areas of diagnosis and treatment of presumed discogenic pain. Our findings show that suspected discogenic pain, despite its extensive affirmation in the literature and enormous resources regularly devoted to it, currently lacks clear diagnostic criteria and uniform treatment or terminology. Copyright © 2013 Elsevier Inc. All rights reserved.

Individualized Instruction Strategies in Mainstream Classrooms: Including Students with Autistic Spectrum Disorder

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Betts, Stephanie R.

2008-01-01

This literature review describes research based teaching strategies for general education teachers to provide equal education for students diagnosed with autism. General education classrooms are often made up of students with a broad spectrum of abilities, and it is the teacher's job to meet the needs of those students. Strategies addressed in…

Addressing the Sexuality and Sex Education of Individuals with Autism Spectrum Disorders

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Sullivan, Amanda; Caterino, Linda C.

2008-01-01

This paper addresses the need for sexuality education for individuals with autism spectrum disorders. It provides a brief overview of autism and Asperger's Syndrome as well as a summary of the existing literature regarding the sexuality of this population. The existing research suggests that there is a high frequency of sexual behaviors among…

Schizophrenia-Spectrum Psychoses in People With and Without Intellectual Disability

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Bouras, N.; Martin, G.; Leese, M.; Vanstraelen, M.; Holt, G.; Thomas, C.; Hindler, C.; Boardman, J.

2004-01-01

Although there is an increased risk of schizophrenia-spectrum psychoses (SSP) in people with intellectual disability (ID), there is a paucity of research evidence into clinical presentation of the disorder in comparison with research into SSP in people without ID. Aims The aims of the study were to compare clinical, functional, and social factors…

From passive to active: The spectrum of peace journalism

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Jesse Benn

2015-10-01

Full Text Available One of the biggest hurdles facing the field of peace journalism (PJ is its vague definition. This paper proposes defining PJ as it operates on a spectrum, from passive to active. Through a review of extant PJ literature, this paper synthesizes current theory into an overarching, explicit concept, and calls for it to be further adopted and expanded. To conclude it considers potential advantages, drawbacks, and critiques of its proposal.

Review Essay: On the Long and Stony Road of Approaching Empirically and Clinically Based Studies on Literature and Psycho-Trauma

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Harald Weilnböck

2006-03-01

Full Text Available The reviewer takes Hannes FRICKE's book on the cross-relations of literature, film and psycho-trauma studies as a point of departure to articulate some thoughts and observations about the continuing dissatisfactory state of interdisciplinary literature and culture studies. In the introductory sections, the reviewer gives examples which recall the absurdities of post-modern psycho-trauma philosophy in the tradition of Richard RORTY and, at the same time, underlines how this post-modernist minority position is actually quite well embedded in the interpretations of main stream German speaking philologies with which postmodernism often seems to be so much at odds. The unseen common denominator lies in an anti-analytical and anti-interdisciplinary ideology that tends to de-empiricize and ontologize psycho-social phenomena and gives proof to the recently coined key word about the re-philologizing of the humanities. This epistemological backlash is all the more deplorable since many fields in social sciences and clinical studies have began to engage in the narrative turn, i.e., follow a cross-disciplinary interest in narration as a fundamental core process in human psyche and interaction. Thus, the anti-narrative and anti-interactional habits which are shared by main stream philologies makes it seem increasingly unlikely that literature studies will soon realize the inevitability of engaging in qualitative-empirical and psychological studies of art, media and reader response. The quite intricate dynamics of de-empiricizing psycho-social phenomena of narration can even be found in projects which explicitly try to inaugurate a philological narratology within a cross-disciplinary context (as, for instance, the two narratological readers of NÜNNING & NÜNNING or the Hamburg DFG-Research-Group on Narratology. Moreover, at the heart of these anti-enlightenment latencies of the anti-analytic and anti-narrative turn, in some instances, authors in social

Clinical, biological, histological features and treatment of oral mucositis induced by radiation therapy: a literature review

International Nuclear Information System (INIS)

Bonan, Paulo Rogerio Ferreti; Lopes, Marcio Ajudarte; Almeida, Oslei Paes de; Alves, Fabio de Abreu

2005-01-01

The oral mucositis is a main side effect of radiotherapy on head and neck, initiating two weeks after the beginning of the treatment. It is characterized by sensation of local burning to intense pain, leading in several cases, to the interruption of the treatment. The purpose of this work is to review the main published studies that discuss the clinical, biological and histopathological features of oral mucositis induced by radiation therapy and to describe the main approaches recommended to prevent or to treat it. Although the clinical features of mucositis are intensively described in the literature, few studies address the histopathological alterations in oral mucositis and only recently, its biological processes have been investigated. The biological mechanisms involved in the radiation tissue damage have been only recently discussed and there is no consensus among treatment modalities. Yet, the progressive knowledge in the histopathology and biological characteristics of oral mucositis probably will lead to more effective in prevention and control strategies. (author)

A Study of the Correlation between VEP and Clinical Severity in Children with Autism Spectrum Disorder

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Winai Sayorwan

2018-01-01

Full Text Available Visual evoked potential (VEP is a technique used to assess the brain’s electrical response to visual stimuli. The aims of this study were to examine neural transmission within the visual pathway through VEP testing in preschool children with autism spectrum disorder (ASD and compare it to age-matched controls, as well as search for a correlation between the VEP parameters and the symptoms of ASD. Participants were composed of ASD children (9 males and typically developing children (8 males and 4 females, aged between 3 and 5 years. Checkerboards were chosen as the pattern-reversal VEP. The clinical severity of ASD was assessed using the Autism Treatment Evaluation Checklist (ATEC and the Vineland Adaptive Behavior Scales 2nd edition (VABS-II. Our findings demonstrated that children with ASD had significantly longer N145 latency compared to the controls. A longer N145 latency correlated with a higher score of ATEC within the sensory/cognitive awareness subdomain. In addition, a slower N145 response was also associated with a lower VABS-II score within the socialization domain. The correlation between longer VEP latency and abnormal behaviors in children with ASD suggests a delayed neural communication within other neural circuits, apart from the visual pathway. These lines of evidence support the possibility of using VEP, along with clinical parameters, for the assessment of ASD severity.

Clinical, Ergonomic, and Economic Outcomes With Multichamber Bags Compared With (Hospital) Pharmacy Compounded Bags and Multibottle Systems: A Systematic Literature Review.

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Alfonso, Jorge Emilio; Berlana, David; Ukleja, Andrew; Boullata, Joseph

2017-09-01

Multichamber bags (MCBs) may offer potential clinical, ergonomic, and economic advantages compared with (hospital) pharmacy compounded bags (COBs) and multibottle systems (MBSs). A systematic literature review was performed to identify and assess the available evidence regarding advantages of MCBs compared with COBs and MBSs. Medline, Embase, the Cochrane Databases, and EconLit were searched for articles reporting clinical, ergonomic, and economic outcomes for MCBs compared with COBs or MBSs. The search was limited to studies conducted in hospitalized patients >2 years of age that were published in English between January 1990 and November 2014. The Population Intervention Comparison Outcomes Study Design (PICOS) framework was used for the analysis. From 1307 unique citations, 74 potentially relevant publications were identified; review of references identified 2 additional publications. Among the 76 publications, 18 published studies met the inclusion criteria. Most were retrospective in design. Ten studies reported clinical outcomes, including 1 prospective randomized trial and multiple retrospective analyses that reported a lower risk of bloodstream infection for MCBs compared with other delivery systems. Sixteen studies reported ergonomic and/or economic outcomes; most reported a potential cost benefit for MCBs, with consistent reports of reduced time and labor compared with other systems. The largest cost benefit was observed in studies evaluating total hospitalization costs. The systematic literature review identified evidence of potential clinical, ergonomic, and economic benefits for MCBs compared with COBs and MBSs; however, methodological factors limited evidence quality. More prospective studies are required to corroborate existing evidence.

[Neurology and literature].

Science.gov (United States)

Iniesta, I

2010-10-01

Literature complements medical literature in the academic and clinical development of neurologists. The present article explores the contributions of writers of fiction on neurology. Literary works of fiction with particular reference to neurology. A symbiosis between writers of fiction and doctors has been well recognised. From Shakespeare to Cervantes by way of Dickens and Cela to writer - physicians such as Anton Chekhov or António Lobo Antunes have contributed through their medically informed literature to the better understanding of neurology. Some writers like Dostoevsky, Machado de Assis and Margiad Evans have written about their own experiences with disease thus bringing new insights to medicine. Furthermore, some neurological disorders have been largely based on literary descriptions. For instance, Dostoevsky's epilepsy has been retrospectively analysed by famous neurologists including Freud, Alajouanine or Gastaut, whilst his writings and biography have prompted others like Waxman and Geschwind to describe typical behavioural changes in temporal lobe epilepsy, finding their source of inspiration in Dostoevsky. Likewise, Cirignotta et al have named an unusual type of seizure after the Russian novelist. Inspired by Lewis Carroll, Todd introduced the term Alice in Wonderland Syndrome to refer to visual distortions generally associated with migraine. Writers of fiction offer a humanised perception of disease by contributing new insights into the clinical history, informing about the subjective experience of the illness and helping to eradicate the stigma associated to neurological disorders.

Simulation with standardized patients to prepare undergraduate nursing students for mental health clinical practice: An integrative literature review.

Science.gov (United States)

Øgård-Repål, Anita; De Presno, Åsne Knutson; Fossum, Mariann

2018-04-22

To evaluate the available evidence supporting the efficacy of using simulation with standardized patients to prepare nursing students for mental health clinical practice. Integrative literature review. A systematic search of the electronic databases CINAHL (EBSCOhost), Embase, MEDLINE, PsycINFO, and SveMed+ was conducted to identify empirical studies published until November 2016. Multiple search terms were used. Original empirical studies published in English and exploring undergraduate nursing students' experiences of simulation with standardized patients as preparation for mental health nursing practice were included. A search of reference lists and gray literature was also conducted. In total, 1677 studies were retrieved; the full texts of 78 were screened by 2 of the authors, and 6 studies reminded in the review. The authors independently reviewed the studies in three stages by screening the titles, abstracts, and full texts, and the quality of the included studies was assessed in the final stage. Design-specific checklists were used for quality appraisal. The thematic synthesizing method was used to summarize the findings of the included studies. The studies used four different research designs, both qualitative and quantitative. All studies scored fairly low in the quality appraisal. The five themes identified were enhanced confidence, clinical skills, anxiety regarding the unknown, demystification, and self-awareness. The findings of this study indicate that simulation with standardized patients could decrease students' anxiety level, shatter pre-assumptions, and increase self-confidence and self-awareness before entering clinical practice in mental health. More high-quality studies with larger sample sizes are required because of the limited evidence provided by the six studies in the present review. Copyright © 2018 Elsevier Ltd. All rights reserved.

The Potential Role of Probiotics in the Management of Childhood Autism Spectrum Disorders

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J. William Critchfield

2011-01-01

Full Text Available Gastrointestinal (GI dysfunction has been reported in a substantial number of children with autism spectrum disorders (ASD. Activation of the mucosal immune response and the presence of abnormal gut microbiota are repeatedly observed in these children. In children with ASD, the presence of GI dysfunction is often associated with increased irritability, tantrums, aggressive behaviour, and sleep disturbances. Moreover, modulating gut bacteria with short-term antibiotic treatment can lead to temporary improvement in behavioral symptoms in some individuals with ASD. Probiotics can influence microbiota composition and intestinal barrier function and alter mucosal immune responses. The administration of probiotic bacteria to address changes in the microbiota might, therefore, be a useful novel therapeutic tool with which to restore normal gut microbiota, reduce inflammation, restore epithelial barrier function, and potentially ameliorate behavioural symptoms associated with some children with ASD. In this review of the literature, support emerges for the clinical testing of probiotics in ASD, especially in the context of addressing GI symptoms.

Does obsessive-compulsive personality disorder belong within the obsessive-compulsive spectrum?

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Fineberg, Naomi A; Sharma, Punita; Sivakumaran, Thanusha; Sahakian, Barbara; Chamberlain, Sam R; Chamberlain, Sam

2007-06-01

It has been proposed that certain Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Axis I disorders share overlapping clinical features, genetic contributions, and treatment response and fall within an "obsessive-compulsive" spectrum. Obsessive-compulsive personality disorder (OCPD) resembles obsessive-compulsive disorder (OCD) and other spectrum disorders in terms of phenomenology, comorbidity, neurocognition, and treatment response. This article critically examines the nosological profile of OCPD with special reference to OCD and related disorders. By viewing OCPD as a candidate member of the obsessive-compulsive spectrum, we gain a fresh approach to understanding its neurobiology, etiology, and potential treatments.

Are self-stigma, quality of life, and clinical data interrelated in schizophrenia spectrum patients? A cross-sectional outpatient study

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Holubova M

2016-03-01

Full Text Available Michaela Holubova, Jan Prasko, Klara Latalova, Marie Ociskova, Aleš Grambal, Dana Kamaradova, Kristyna Vrbova, Radovan Hruby Department of Psychiatry, Faculty of Medicine and Dentistry, Palacky University Olomouc, University Hospital Olomouc, Olomouc, Czech Republic Background: Current research attention has been moving toward the needs of patients and their consequences for the quality of life (QoL. Self-stigma is a maladaptive psychosocial phenomenon disturbing the QoL in a substantial number of psychiatric patients. In our study, we examined the relationship between demographic data, the severity of symptoms, self-stigma, and QoL in patients with schizophrenia spectrum disorder.Methods: Probands who met International Classification of Diseases-10 criteria for schizophrenia spectrum disorder (schizophrenia, schizoaffective disorder, or delusional disorder were recruited in the study. We studied the correlations between the QoL measured by the QoL Satisfaction and Enjoyment Questionnaire, self-stigma assessed by the Internalized Stigma of Mental Illness, and severity of the disorder measured by the objective and subjective Clinical Global Impression severity scales in this cross-sectional study.Results: A total of 109 psychotic patients and 91 healthy controls participated in the study. Compared with the control group, there was a lower QoL and a higher score of self-stigmatization in psychotic patients. We found the correlation between an overall rating of self-stigmatization, duration of disorder, and QoL. The level of self-stigmatization correlated positively with total symptom severity score and negatively with the QoL. Multiple regression analysis revealed that the overall rating of objective symptom severity and the score of self-stigma were significantly associated with the QoL.Conclusion: Our study suggests a negative impact of self-stigma level on the QoL in patients suffering from schizophrenia spectrum disorders. Keywords: quality

Teaching Children with Autism Spectrum Disorder to Recognize and Express Emotion: A Review of the Literature

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Daou, Nidal; Hady, Ryma T.; Poulson, Claire L.

2016-01-01

The developmental literature has focused extensively on deficits in the expression and recognition of emotion in people with autism, and has reported on the use of interactive tools to address the problems of affect. The behavioral literature has offered interventions to teach children with autism to engage in appropriate affective displays, and…

Practitioner review: schizophrenia spectrum disorders and the at-risk mental state for psychosis in children and adolescents--evidence-based management approaches.

Science.gov (United States)

Tiffin, Paul A; Welsh, Patrick

2013-11-01

Schizophrenia spectrum disorders are severe mental illnesses which often result in significant distress and disability. Attempts have been made to prospectively identify and treat young people viewed as at high risk of impending nonaffective psychosis. Once a schizophrenia spectrum disorder has developed, prompt identification and management is required. This article reviews the literature relating to the assessment and management of 'at-risk mental states' (ARMS) and the treatment of schizophrenia spectrum disorders in children and adolescents. A systematic search of the literature was undertaken using EMBASE, MEDLINE, PsycINFO databases for the period January 1970-December 2012. Evidence suggests that young people fulfilling the ARMS criteria are at high risk of adverse mental health outcomes but that the majority do not develop nonaffective psychosis over the medium term. Although clinical trial findings have been inconsistent, psychosocial approaches, such as cognitive behaviour therapy, may reduce the risk of transition to psychosis and improve some symptoms, at least over the short term. The effectiveness of psychotropic medication for the ARMS is uncertain although there is accumulating evidence for potential adverse effects of antipsychotic medication, even at low dose, in this population. For the schizophrenias, clinical trial findings suggest that, as in adults, antipsychotics should be selected on the basis of side-effect profile although clozapine may be helpful in treatment refractory illness. There are almost no studies of psychosocial treatments for schizophrenia in young people under 18, and some caution must be exercised when extrapolating the findings of adult studies to younger individuals. A stepped care approach to the ARMS in young people represents a plausible potential management approach for those at high risk of serious mental health problems. However, predictive models currently lack precision and should focus on accurately identifying

Clinical features of abdominopelvic actinomycosis: report of twenty cases and literature review.