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Dido Scheibenberger, Andreas Frings, Johannes Steinberg, Helke Schüler, Vasyl Druchkiv, Toam Katz, Yskert von Kodolitsch, Stephan Linke
PURPOSE: To evaluate corneal deformation to an air puff as a new noninvasive tool to document disease status in Marfan syndrome (MFS) METHODS: Prospective observational cohort study. We included patients diagnosed with MFS who had their routine cardiovascular follow-up and applied the revised Ghent nosology to define two subgroups according to a high (≥ 7) and a low (< 7 points) systemic score. Dynamic Scheimpflug-based biomechanical analyses (CorvisST® [CST; Oculus GmbH]) were performed...
March 10, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Stephen P Becker, Erik G Willcutt
Sluggish cognitive tempo (SCT) is separable from attention-deficit/hyperactivity disorder (ADHD) and other psychopathologies, and growing evidence demonstrates SCT to be associated with impairment in both children and adults. However, it remains unclear how SCT should optimally be conceptualized. In this article, we argue that multiple models of psychopathology should be leveraged to make substantive advances to our understanding of SCT. Both categorical and dimensional approaches should be used, including the Diagnostic and Statistical Manual of Mental Disorders (DSM) nosology, the Research Domain Criteria (RDoC) initiative, and hierarchical models of psychopathology...
March 10, 2018: European Child & Adolescent Psychiatry
Juan C Stagnaro
Since the late 19th century, Argentinean psychiatrists have been developing classifcations of psychiatric disorders. Their work has had local originality and fruitful exchange with international controversies on the subject. The thinking of some Argentinean psychiatrists transcended the borders of the country and was adopted in the South American region, as was the case with the classifcation proposed by José T. Borda. There were also historical anticipations of concepts that were not known in other latitudes: "oligotimia", a category created by Enrique Pichon-Rivière, preceded the characterization of early childhood autism by Leo Kanner...
May 2017: Vertex: Revista Argentina de Psiquiatriá
Sarah L Karalunas, Damien Fair, Erica D Musser, Kamari Aykes, Swathi P Iyer, Joel T Nigg
No abstract text is available yet for this article.
March 7, 2018: JAMA Psychiatry
Shian Ming Tan, Kah Foo Victor Kwok, Kelly A Zainal, Huei Yen Lee
OBJECTIVE: The incidence of cases of older onset anorexia nervosa (AN) has increased in recent years. However, the literature on late-onset AN has been inconclusive. The goal of this study was to compare late-onset with early-onset cases of AN. METHODS: Cases of AN presenting to an eating disorders treatment service were identified and the associated medical records were studied retrospectively. RESULTS: Of the 577 cases of AN that were studied, 7...
March 2018: Journal of Psychiatric Practice
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
February 27, 2018: Seizure: the Journal of the British Epilepsy Association
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles, and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into: i. non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; ii...
February 28, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Johannes Fuss, Peer Briken, Verena Klein
The psychiatric classification of "normal" versus disordered sexual behavior has been a subject of some dispute. Although atypical sexual interests have been viewed traditionally as typically male, epidemiological data indicate its presence in both genders. We examined how gender and sexual orientation influence whether or not atypical sexual behavior is classified as a mental disorder. Mental health professionals (N = 546) were presented with five case vignettes where subjects exhibit paraphilic behaviors; one case with psychotic symptoms served as the control condition...
February 27, 2018: Scientific Reports
Daan P F van Nunen, Marie-José H van den Boogaard, Corstiaan C Breugem
OBJECTIVE: Heterogeneity in both nomenclature and diagnostic criteria has hindered the interpretation of research into the congenital condition most widely known as (Pierre) Robin syndrome or sequence. In 2009, the discussion regarding its diagnosis and nosology was reopened to converge on a uniform eponym and standard set of diagnostic criteria. The objective of this study was to assess the impact of this debate. MATERIALS AND METHODS: This is a retrospective review of the nomenclature and diagnostic criteria employed in studies about this condition that were indexed in the MEDLINE literature database (PubMed) and published during 2009 to 2016...
February 26, 2018: Journal of Craniofacial Surgery
S V Andreieva, K V Korets, O E Ruzhinska, I M Skorokhod, O G Alkhimova
AIM: The genetic mechanisms of resistance to chemotherapy in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CLL/SLL) are not clear. We aimed to determine the peculiarities of abnormal karyotype formation in bone marrow (BM) cells and peripheral blood (PB) blast transformed B-cells in relapse of B-CLL/SLL. MATERIALS AND METHODS: Cytogenetic GTG banding technique and molecular cytogenetic in interphase cells (i-FISH) studies of BM cells and PB blast transformed B-lymphocytes were performed in 14 patients (10 males and 4 females) with B-CLL/SLL...
July 2017: Experimental Oncology
Daniel Mason, Honor Hsin
Psychiatric classification remains a complex endeavour; since the Enlightenment, nosologists have made use of various models and metaphors to describe their systems. Here we present the most common model, botanical taxonomy, and trace its history from the nosologies of Sydenham, Sauvages and Linnaeus; to evolutionary models; to the later contributions of Hughlings-Jackson, Kraepelin and Jaspers. Over time, there has been a shift from explicit attempts to pattern disease classification on botanical systems, to a more metaphorical use...
February 1, 2018: History of Psychiatry
M A Sargsyan, H E Voskanyan, E M Karalova, L H Hakobyan, Z A Karalyan
Aim: First cases of clinically uncommon African swine fever (ASF), caused by virus genotype II are described in this article. These cases occurred in Armenia, Tavush region, Dilijan municipality in 2011. The aim of this study was to identify and describe the new pathogenic forms of ASF in Armenia. Materials and Methods: The isolation and identification of ASF virus (ASFV) were carried out using conventional techniques. Clinical signs of infection were recorded daily...
January 2018: Veterinary World
T M Lancaster
BACKGROUND: Recent genome-wide association studies (GWAS) of striatal volumes and bipolar disorder (BD) indicate these traits are heritable and share common genetic architecture, however little independent work has been conducted to help establish this relationship. METHODS: Subcortical volumes (mm3 ) of young, healthy offspring of BD (N= 32) and major depressive disorder (MDD) patients (N= 158) were compared to larger healthy control sample (NRANGE = 925-1052) adjusting for potential confounds, using data from the latest release (S1200) of the Human Connectome Project...
February 17, 2018: Journal of Affective Disorders
Maja Zandersen, Mads Gram Henriksen, Josef Parnas
The status of borderline personality disorder (BPD) as a diagnostic category is a matter of continuing controversy. In the United States, BPD is one of the most frequent diagnoses of psychiatric inpatients, and a similar tendency emerges in Europe. Nearly all theoretical aspects of BPD have been questioned, including its very position as a personality disorder. In this article, we trace the evolution of the borderline concept from the beginning of the 20th century to the current psychometric research. We argue that the status of BPD is fraught with conceptual difficulties, including an unrecognized semantic drift of major phenomenological terms (e...
February 22, 2018: Journal of Personality Disorders
Simon M Rice, Rosemary Purcell, Patrick D McGorry
Adolescent and young adult men do poorly on indicators of mental health evidenced by elevated rates of suicide, conduct disorder, substance use, and interpersonal violence relative to their female peers. Data on global health burden clearly demonstrate that young men have a markedly distinct health risk profile from young women, underscoring different prevention and intervention needs. Evidence indicates that boys disconnect from health-care services during adolescence, marking the beginning of a progression of health-care disengagement and associated barriers to care, including presenting to services differently, experiencing an inadequate or poorly attuned clinical response, and needing to overcome pervasive societal attitudes and self-stigma to access available services...
March 2018: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
Stanley N Caroff, Gabor S Ungvari, David G Cunningham Owens
Tardive dyskinesia (TD) is a persistent hyperkinetic movement disorder associated with dopamine receptor blocking agents including antipsychotic medications. Although uncertainty and concern about this drug side effect has vacillated since its initial recognition 60 years ago, recent commercial interest in developing effective treatments has rekindled scientific and clinical interest after a protracted period of neglect. Although substantial research has advanced knowledge of the clinical features and epidemiology of TD, many fundamental questions raised by early investigators remain unresolved...
February 3, 2018: Journal of the Neurological Sciences
B Ae O Khalele
Adenomatoid odontogenic tumor (AOT) is always benign. Given the very rare recurrence rate and the zero potential of malignant transformation, authors have considered it a hamartoma. Accordingly, 'AOT' is no more than a misnomer. This report, however, describes the first recognition of cellular atypia and plemorphism in a peripheral orophayrngeal AOT which embraces an ameloblastic component. The overall picture was diagnosed, after careful histological and immunohitochemical assessment, as a peripheral adenoid ameloblastoma...
December 2017: Pathologica
I J Gilete-Tejero, H Z Ippolito-Bastidas, L M Bernal-Garcia, J Mata-Gomez, R Garcia-Moreno, M Ortega-Martinez, J M Cabezudo-Artero
INTRODUCTION: In our setting, the ageing of the population has led to management of traumatic brain injury (TBI) in the later stages of life becoming an increasingly frequent problem. AIM: To evaluate the association between age and the functional and survival prognosis of patients who have undergone surgery due to TBI. PATIENTS AND METHODS: We performed a retrospective analysis of a series of 404 patients submitted to surgery between the years 2000 and 2015: 144 youngsters (12-44 years), 77 adults (45-64 years), 148 geriatric patients (65-79 years) and 26 'super geriatric' patients (> 80 years)...
February 16, 2018: Revista de Neurologia
Karen Frei, Daniel D Truong, Stanley Fahn, Joseph Jankovic, Robert A Hauser
Since the original description of side effects of neuroleptics, different terminologies and definitions for tardive dyskinesia (TD) and tardive syndrome (TS) have been used by different authors, and often these two terms have been used interchangeably. This paper proposes a nosology designed to define and clarify various terms and phenomenologies within the TS spectrum. We propose to use the term tardive dyskinesia to refer to the original description of repetitive and complex oral-buccal-lingual (OBL) movements, as well as to the analogous repetitive movements that can appear in the limbs, trunk, or pelvis...
February 6, 2018: Journal of the Neurological Sciences
Adalberto Campo-Arias, Edwin Herazo
Human behaviours have different meanings according to the historical moment and context. In this article sexual behaviours are taken as a category in order to analyse how psychiatric nosology is structured, as manifested in texts such as the DSM-5. The development of these diagnostic manuals are tools that are far from being free of subjectivities and interference of elements of power, expressed in the way health, illness, mental health, and mental disorders, are assumed; in short, the normal and pathological...
January 2018: Revista Colombiana de Psiquiatría
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