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Le Joan T JT Division of Pediatric Rehabilitation Medicine, Department of Pediatrics, Rady Children's Hospital San Diego, University of California San Diego, 3020 Children's Way, MC 5096, San Diego, CA 92123, USA. Electronic address: - - 2015
Congenital limb differences are uncommon birth defects that may go undetected even with prenatal screening ultrasound scans and often go undetected until birth. For children with congenital limb differences, a diagnostic evaluation should be done to rule out syndromes involving other organ systems or known associations. The most common etiology ...
Bathina Jaya J Christiana Care Health System, Newark, DE, - - 2014
Although it has been almost 20 years since the first case of Takotsubo cardiomyopathy was described in Japan, its pathophysiology remains an enigma. While several hypotheses have been proposed to explain the pathophysiology, the exact mechanism of the syndrome is unknown. This editorial reviews the literature published on various theories ...
Ma T T Public Health Agency of - - 2014
SUMMARY An evaluation was conducted to determine which syndromic surveillance tools complement traditional surveillance by serving as earlier indicators of influenza activity in Sweden. Web queries, medical hotline statistics, and school absenteeism data were evaluated against two traditional surveillance tools. Cross-correlation calculations utilized aggregated weekly data for all-age, nationwide activity ...
Mattern Susan P SP Department of History, University of Georgia, Athens, Georgia - - 2014
Starting perhaps in the second century BCE, and with Hippocratic precedent, ancient medical writers described a condition they called hysterike pnix or "uterine suffocation." This paper argues that uterine suffocation was, in modern terms, a functional somatic syndrome characterized by chronic anxiety and panic attacks. Transcultural psychiatrists have identified and ...
Harder Valerie S VS University of Vermont, Department of Psychiatry, 1 S. Prospect Street, Burlington, Vermont, USA ; Africa Mental Health Foundation, Nairobi, - - 2014
Data on youth emotional and behavioral problems from societies in Sub-Saharan Africa are lacking. This may be due to the fact that few youth mental health assessments have been tested for construct validity of syndrome structure across multicultural societies that include developing countries, and almost none have been tested in ...
Maas Rutger J RJ Department of Nephrology, Radboud University Medical Center, Nijmegen, The - - 2014
The term idiopathic nephrotic syndrome (iNS) traditionally covers minimal change disease and primary focal segmental glomerulosclerosis (FSGS), now thought to be separate disease entities. Clinical and experimental evidence suggest that circulating permeability factors are involved in their pathogenesis. In the past four decades, many investigators have searched for the responsible ...
Gotts Jeffrey E JE Departments of Medicine and Anesthesia, Cardiovascular Research Institute, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143-0624, - - 2014
Regenerative medicine has entered a rapid phase of discovery, and much has been learned in recent years about the lung's response to injury. This article first summarizes the cellular and molecular mechanisms that damage the alveolar-capillary barrier, producing acute respiratory distress syndrome (ARDS). The latest understanding of endogenous repair processes ...
Meyer Nuala J NJ Pulmonary, Allergy, and Critical Care Medicine, University of Pennsylvania, Perelman School of Medicine, 3600 Spruce Street, 5039 Maloney Building, Philadelphia, PA 19104, USA. Electronic address: - - 2014
This article summarizes the contributions of high-throughput genomic, proteomic, metabolomic, and gene expression investigations to the understanding of inherited or acquired risk for acute respiratory distress syndrome (ARDS). Although not yet widely applied to a complex trait like ARDS, these techniques are now routinely used to study a variety of ...
Feinberg Todd E TE Departments of Psychiatry and Neurology, Icahn School of Medicine at Mount Sinai and the Yarmon Neurobehavior and Alzheimer's Disease Center, Mount Sinai Beth Israel, New York, NY, USA. Electronic address: - - 2014
Somatoparaphrenia, a syndrome that involves at a minimum unawareness of ownership of a body part, in addition involves productive features including delusional misidentification and confabulation. In this review we describe some of the clinical and neuroanatomical features of somatoparaphrenia highlighting its delusional and confabulatory aspects. Possible theoretical frameworks are reviewed ...
Wan Yi-Ting YT Department of Occupational Therapy, Kaohsiung Medical University, Kaohsiung, - - 2014
The primary purpose of this study was to investigate the visual perceptual functions measured by the Test of Visual Perceptual Skill-Third Edition (TVPS-3) in Down syndrome (DS). Seventy individuals with DS, seventy with typical development (TD), and forty mental-age-matched participants with intellectual disabilities (ID) were recruited for the assessment session. ...
Izumi Kosuke - - 2014
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. PKS is caused by extra copies of chromosome 12p, most characteristically a marker isochromosome 12p that demonstrates tissue-limited mosaicism. The cytogenetic diagnosis of PKS is often cumbersome due ...
Lionti Tess T Murdoch Childrens Research Institute, Melbourne, - - 2014
Perceived temporal trends in recognition and diagnosis of Prader-Willi syndrome served as the rationale for an updated epidemiological profile of individuals with this syndrome. Data from the Victorian Prader-Willi Syndrome Register were used to explore birth prevalence, birth characteristics, timing of diagnosis, and molecular mechanism, and to identify trends over ...
Vial Flavie F Veterinary Public Health Institute, Vetsuisse Fakultät, University of Bern, Bern, Switzerland. Electronic address: - - 2014
The field of animal syndromic surveillance (SyS) is growing, with many systems being developed worldwide. Now is an appropriate time to share ideas and lessons learned from early SyS design and implementation. Based on our practical experience in animal health SyS, with additions from the public health and animal health ...
Watt Tanisha T New Zealand National Eye Centre, Department of Optometry and Vision Science, The University of Auckland, Auckland, New - - 2014
In this review of the visual development of children with Down syndrome we were specifically interested in how refractive error, binocular alignment and accommodation are different in Down syndrome from the general population. The differences and their aetiology will help practitioners make informed decisions about the visual assessment and management ...
Vial Flavie F Vetsuisse Faculty, Veterinary Public Health Institute, Schwarzenburgstrasse 155, Bern CH-3003, Switzerland. Electronic address: - - 2014
We obtained partial carcass condemnation (PCC) data for cattle (2009-2010) from a Swiss slaughterhouse. Data on whole carcass condemnations (WCC) carried out at the same slaughterhouse over those years were extracted from the national database for meat inspection. We found that given the differences observed in the WCC and PCC ...
Pretto Dalyir D Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, - - 2014
The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatment. Owing to the high ...
Lundby Lilli L Department of Surgery P, Aarhus University Hospital, Aarhus, - - 2014
Obstructed defaecation syndrome (ODS) is a symptom complex consisting of a sense of incomplete evacuation, prolonged straining and a persisting desire to defaecate. In patients with ODS structural abnormalities of the colorectum and the pelvic floor including rectal intussuception, rectocele, enterocele and prolapse of the middle pelvic compartment are nearly ...
Darcourt J J Nuclear medicine, University of Nice, Nice, France - - - 2014
18F-FDOPA PET has been historically used for the evaluation of parkinsonian syndromes in research settings. With the wider availability of PET cameras and 18F-DOPA this method can be used as a clinical diagnostic tool. Current acquisition protocols are simple with a 10 minute static acquisition performed 90 minutes post injection. ...
Ondo William G WG University of Texas Health Science Center, Houston, TX, USA, - - 2014
Restless legs syndrome (RLS) is a complicated sensory-motor syndrome. The pathology is increasingly understood, but a clear physiologic understanding still remains elusive. The most robust findings remain reduced central nervous system (CNS) iron and some perturbation in dopaminergic systems. Other neurotransmitter systems are also like involved, and the phenotype may ...
Goitz Robert J RJ University of Pittsburgh Medical Center, Pittsburgh, - - 2014
The anatomical characteristics of the transverse carpal ligament (TCL) have recently been further clarified. Its bony insertion sites proximally to the scaphoid and pisiform are more round, whereas the distal insertion sites to the trapezium and hamate are more oblong, with reproducible areas of insertion. The thickness of the TCL ...
Jamroziak Krzysztof - - 2014
Abstract Richter syndrome (RS) or Richter transformation is the development of secondary aggressive lymphoma in the setting of underlying chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Most frequently CLL transforms into diffuse large B-cell lymphoma (90%) and rarely (10%) into Hodgkin lymphoma, termed Hodgkin variant of Richter syndrome (HvRS). RS is ...
Morel A-S AS Pôle des Maladies Infectieuses et Tropicales Clinique et Biologique, Fédération de Bactériologie-Hygiène-Virologie, University Hospital Centre Timone, Institut Hospitalo-Universitaire (IHU) Méditerranée Infection, Assistance Publique-Hôpitaux de Marseille, Marseille, - - 2014
Molecular tools have shown an added value in the diagnosis of infectious diseases, in particular for those caused by fastidious intracellular microorganisms, or in patients receiving antibiotics before sampling. If 16S rDNA amplification had been gradually implemented in microbiology laboratories, specific real-time polymerase chain reaction (PCR) would have permitted an ...
Walters Arthur S - - 2014
Over the last decade, increased research on therapy, pathogenesis, epidemiological and genetic aspects of restless legs syndrome /Willis-Ekbom Disease (RLS/WED) has necessitated development of diagnostic instruments specific to RLS. The Movement Disorder Society commissioned a task force to formally evaluate the available evidence on diagnostic instruments in RLS. A literature ...
Pujol Jesus J MRI Research Unit, CRC Mar, Hospital del Mar, Barcelona, Spain; Centro Investigación Biomédica en Red de Salud Mental, CIBERSAM G21, Barcelona, Spain. Electronic address: - - 2014
Research in Down syndrome has substantially progressed in the understanding of the effect of gene overexpression at the molecular level, but there is a paucity of information on the ultimate consequences on overall brain functional organization. We have assessed the brain functional status in Down syndrome using functional connectivity MRI. ...
Johnson Barbara B Physical Therapy Program, University of Wisconsin, LaCrosse, - - 2014
There is limited research on function in individuals with RASopathies. Our hypothesis was that there was function and disability differences between Costello syndrome (CS) and Cardiofaciocutaneous syndrome (CFCS). The purpose of this study was to describe and compare the functional performance and level of disability of children with CS and ...
Segal Nancy L NL Department of Psychology,California State - - 2014
There is a lack of research findings addressing the unique college admissions issues faced by twins and other multiples. The advantages and disadvantage twins face, as reported by college administrators, twins and families are reviewed. Next, recent research addressing twins' birth weight and neuromotor performance, transfusion syndrome markers, the vanishing ...
Stern A A Division of Nephrology, Elmhurst Hospital Center, Icahn School of Medicine at Mount Sinai, 79-01 Broadway, Elmhurst, NY 11373, United States. Electronic address: - - 2014
Goodpasture's syndrome is a rare disease that involves rapidly progressive kidney failure as well as hemorrhagic lung disease. It is a form of autoimmune disorder with unusual features; marked male preponderance, in contrast with other autoimmune disease in which females are at far greater risk. The autoantibodies are directed again ...
Neubauer Bernd A BA Department of Child Neurology, University of Giessen, Giessen, - - 2014
Status epilepticus (SE) is a medical emergency with increased risk of morbidity and mortality in all age groups. Recent research has identified a variety of new genes implicated in disorders with severe epilepsies as a prominent feature. Autoimmune mechanisms have also been recently recognised as a cause of epilepsies with ...
Alzahrani M M Department of Surgery, Division of otolaryngology, King Fahad Specialist Hospital,Dammam, Saudi Arabia - - - 2014
Pediatric hearing loss limits the child ability to develop effective auditory and speech capabilities. Early rehabilitation of hearing loss results in higher levels of linguistic, academic and social skills. The etiology of hearing loss can be classified according to its nature as sensorineural hearing loss (SNHL), Conductive hearing loss (CHL) ...
Prendergast Andrew J - - 2014
Linear growth failure is the most common form of undernutrition globally. With an estimated 165 million children below 5 years of age affected, stunting has been identified as a major public health priority, and there are ambitious targets to reduce the prevalence of stunting by 40% between 2010 and 2025. ...
Stasolla Fabrizio F Lega del Filo d'Oro Research Center, Molfetta, Italy. Electronic address: - - 2014
This study was aimed at extending the use of assistive technology (i.e. photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose of the study was to reduce stereotypic behaviors exhibited by the participants involved (i.e. ...
Harrison Robert V RV a Department Otolaryngology - Head and Neck Surgery , The University of Toronto, Program in Neuroscience and Mental Health, The Hospital for Sick Children , Toronto , - - 2014
An emerging environmental health issue relates to potential ill-effects of wind turbine noise. There have been numerous suggestions that the low-frequency acoustic components in wind turbine signals can cause symptoms associated with vestibular system disorders, namely vertigo, nausea, and nystagmus. This constellation of symptoms has been labeled as Wind Turbine ...
Pacey Verity V Department of Physiotherapy, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Health Professions, Macquarie University, Sydney, New South Wales, - - 2014
The term 'joint hypermobility' describes synovial joints that move beyond a normal range of motion. 'Joint hypermobilty syndrome' may also be associated with significant symptoms and impaired quality of life. The purpose of this review is to help the generalist to recognise the condition, exclude significant alternative diagnoses and understand ...
Walker Brandon S BS Department of Pathology and ARUP Laboratories, University of Utah, Salt Lake City, - - 2014
To determine the cost effectiveness of cell free DNA (cfDNA) as a replacement for integrated screening using a societal cost perspective. Monte-Carlo simulation with one-way and probabilistic sensitivity analysis. cfDNA is more effective and less costly than integrated screening. The incremental cost effectiveness ratio (ICER) for cfDNA relative to the ...
Glaser Dee Anna DA Department of Dermatology, Saint Louis University School of Medicine, 1402 South Grand Boulevard-ABI, St Louis, MO 63104, USA. Electronic address: - - 2014
Primary hyperhidrosis (HH) commonly affects the axillae, palms, soles, face, and/or the groin. There are limited treatment options available for HH of areas other than the axillae and palms/soles. Botulinum neurotoxin-A is an effective and safe treatment option for most hyperhidrotic areas of the body. Areas that are commonly affected, ...
Wu Y-T YT Department of Dermatology, Beijing Hospital, Beijing, - - 2014
The dyschromatoses are a group of disorders characterized by the presence of both hyperpigmented and hypopigmented macules, many of which are small in size and irregular in shape. Localized dyschromatosis is a rare manifestation of dyschromatosis. Localized dyschromatosis showing segmental distribution may be a result of degeneration of localized cutaneous ...
Church Jessica A JA Department of Psychology, University of Texas at Austin, Austin, TX - - 2014
Tourette syndrome has been examined using many different neuroimaging techniques. There has been a recent surge of neuroimaging research papers related to Tourette syndrome that are exploring many different aspects of the disorder and its comorbidities. This brief review focuses on recent MRI-based imaging studies of pediatric Tourette syndrome, including ...
Ehsan Alaee A Assistant Professor, Department of Neonatology, Neonatal and Children's Health Research Center, Golestan University of Medical, Sciences , Gorgan, Iran - - 2014
Ellis van Creveld syndrome (EVCS) is mainly characterized by dysplatic changes in skeletal structures along with variable inter- and intra-familial patterns. Shortening of bony structures such as ribs and limbs, postaxial polydactyly, and dysplastic teeth and nails are among the clinical presentation of this autosomal recessive disease.
Vandeleur C L CL Department of Psychiatry, University Hospital of Lausanne, Site de Cery, 1008 Prilly, Switzerland. Electronic address: - - 2014
The use of the family history method is recommended in family studies as a type of proxy interview of non-participating relatives. However, using different sources of information can result in bias as direct interviews may provide a higher likelihood of assigning diagnoses than family history reports. The aims of the ...
Veenstra-VanderWeele Jeremy J Department of Psychiatry and New York State Psychiatric Institute; Columbia - - 2014
Neuropsychiatric disorders vary substantially in age of onset but are best understood within the context of neurodevelopment. Here, we review opportunities for intervention at critical points in developmental trajectories. We begin by discussing potential opportunities to prevent neuropsychiatric disorders. Once symptoms begin to emerge, a number of interventions have been ...
Verhave Jacobien C JC Department of Nephrology, Radboud University Medical Center, Nijmegen, The - - 2014
The haemolytic uraemic syndrome (HUS) is part of a spectrum of thrombotic microangiopathies. The most common etiologies of HUS are the ones seen in childhood caused by an infection of Shiga toxin-producing Escherichia coli, HUS caused by an infection with Streptococcus pneumoniae and HUS due to abnormalities in the alternative ...
Al-Tawfiq Jaffar A JA Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia; Indiana University School of Medicine, Indianapolis, Indiana, - - 2014
Several new viral respiratory tract infectious diseases with epidemic potential that threaten global health security have emerged in the past 15 years. In 2003, WHO issued a worldwide alert for an unknown emerging illness, later named severe acute respiratory syndrome (SARS). The disease caused by a novel coronavirus (SARS-CoV) rapidly ...
Zbojniewicz Andrew M AM From the Division of Pediatric Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, MLC 5031, Cincinnati, OH - - 2014
Ultrasonography (US) is increasingly recognized as an important tool for diagnosis and therapeutic management of a variety of musculoskeletal conditions. Advantages of US use in the young athlete include the ability to diagnose dynamic conditions that are occult with other modalities, provide additional diagnostic information, and aid in treatment. Uses ...
Kadakia Sameep S From the *Department of Otolaryngology/Head and Neck Surgery, New York Eye and Ear Infirmary, Mount Sinai Health System, New York; †Albert Einstein College of Medicine, Bronx; and ‡Department of Plastic Surgery, New York Eye and Ear Infirmary, Mount Sinai Health System, New York, New - - 2014
As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome. The phenotypic characteristics of CS are diverse, and the molecular underpinnings are equally complex. ...
Colebunders Robert R Department of Epidemiology and Social Medicine, University of Antwerp, Antwerp, Belgium; Department of Clinical Sciences, Institute of Tropical Medicine, Antwerp, Belgium. Electronic address: - - 2014
Nodding syndrome (NS) is an unexplained neurological illness that mainly affects children aged between 5 and 15 years. NS has so far been reported from South Sudan, northern Uganda, and Tanzania, but in spite of extensive investigations, the aetiology remains unknown. We hypothesize that blackflies (Diptera: Simuliidae) infected with Onchocerca ...
Kuru Kaya K Department of Communication, Electronics, and Information Systems, Gülhane Military Medical Academy, Etlik, Ankara 06010, Turkey. Electronic address: - - 2014
In general, medical geneticists aim to pre-diagnose underlying syndromes based on facial features before performing cytological or molecular analyses where a genotype-phenotype interrelation is possible. However, determining correct genotype-phenotype interrelationships among many syndromes is tedious and labor-intensive, especially for extremely rare syndromes. Thus, a computer-aided system for pre-diagnosis can facilitate ...
Lopes Ana M AM CIBIO-UP, Centro de Investigação em Biodiversidade e Recursos Genéticos-Universidade do Porto/InBIO, Laboratório Associado, Vairão, Portugal; Departamento de Biologia, Faculdade de Ciências da Universidade do Porto, Porto, Portugal; INSERM, UMR892, CNRS, UMR6299, Université de Nantes, Nantes, France. Electronic address: - - 2014
European brown hare syndrome virus (EBHSV) is the aetiological agent of European brown hare syndrome (EBHS), a disease affecting Lepus europaeus and Lepus timidus first diagnosed in Sweden in 1980. To characterize EBHSV evolution we studied hare samples collected in Sweden between 1982 and 2008. Our molecular clock dating is ...
Lenza Mario M Hospital Israelita Albert Einstein, São Paulo, SP, - - 2014
The impingement syndrome is defined by the compression of the rotator cuff tendons against the coracoacromial arch. Several factors contribute to this condition and they are classified as structural or functional factors. The former are changes in the coracoacromial arch, proximal humerus, bursa and rotator cuff, and the latter are ...
Giménez-Arnau Ana - - 2014
Abstract The environment is defined by the aggregate of surrounding things, conditions, or influences. The biophysical environment includes the physical and biological factors, along with chemical interactions that affect an organism. Contact dermatitis includes any inflammatory skin reaction to direct or indirect contact with noxious agents in the environment. Although ...
Rhodes Jennifer L JL VCU Center for Craniofacial Care, Division of Plastic Surgery, Department of Surgery, VCU School of Medicine, Richmond, Virginia ; Department of Pediatrics; VCU School of Medicine, Richmond, - - 2014
Craniosynostosis affecting the lambdoid suture is uncommon. The definition of lambdoid craniosynostosis solely applies to those cases demonstrating true suture obliteration, similar to other forms of craniosynostosis. In patients presenting with posterior plagiocephaly, true lambdoid craniosynostosis must be differentiated from the much more common positional molding. It can occur in ...
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