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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 ...
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 ...
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 ...
Chahine Lama M LM Department of Neurology (LMC, MG, RGG), University of Pennsylvania, Philadelphia; Department of Neurology (TR), University of Chicago, IL; and Department of Internal Medicine and Pathology (JJR), American University of Beirut, - - 2014
Corticobasal syndrome (CBS) is characterized by asymmetric involuntary movements including rigidity, tremor, dystonia, and myoclonus, and often associated with apraxia, cortical sensory deficits, and alien limb phenomena. Additionally, there are various nonmotor (cognitive and language) deficits. CBS is associated with several distinct histopathologies, including corticobasal degeneration, other forms of tau-related ...
Yu Timothy W TW Division of Genetics and Genomics, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, - - 2014
Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions. These glimpses on one hand reinforce the idea that synapse development ...
Grubić Petra - - 2014
There are three epidemiological studies of irritable bowel syndrome (IBS) that were conducted in Croatia (in the area of Zagreb in 2002, Bjelovarsko-bilogorska County in 2008, and finally in Osjecko-baranjska County in 2011). The aim of this study is to analyze the anthropometric, demographic and socioeconomic characteristics of IBS in ...
Virzì Grazia Maria GM Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, Agrigento, Italy ; Department of IRRIV-International Renal Research Institute, Vicenza, Agrigento, Italy ; Department of Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Agrigento, - - 2014
The organ crosstalk can be defined as the complex biological communication and feedback between distant organs mediated via cellular, molecular, neural, endocrine and paracrine factors. In the normal state, this crosstalk helps to maintain homeostasis and optimal functioning of the human body. However, during disease states this very crosstalk can ...
Kobayashi Shinji S Department of Plastic and Reconstructive Surgery, Knagawa Children's Medical Center, Yokohama, Kanagawa, Japan; Fukawa Orthodontic Clinic, Ofuna, Kanagawa, Japan; Hirakawa Orthodontic Clinic, Yokohama, Kanagawa, Japan; and Department of Plastic and Reconstructive Surgery, Yokohama City University Hospital, Yokohama, Kanagawa, - - 2014
We have developed a hybrid facial osteogenesis distraction system that combines the advantages of external and internal distraction devices to enable control of both the distraction distance and vector. However, when the advanced maxilla has excessive clockwise rotation and shifts more downward vertically than planned, it might be impossible to ...
Steinberg Gregory B GB Aetna Innovation Labs, PO Box 359, Dingmans Ferry, PA 18328. E-mail: gsteinberg@ aetna.com. Bruce W. Church, GNS Healthcare, 1 Charles Park, Third Floor, Cambridge, MA 02141. E-mail: - - 2014
Objectives We applied a proprietary "big data" analytic platform-Reverse Engineering and Forward Simulation (REFS)-to dimensions of metabolic syndrome extracted from a large data set compiled from Aetna's databases for 1 large national customer. Our goals were to accurately predict subsequent risk of metabolic syndrome and its various factors on both ...
Nassar Wael A M WA Department of Orthopaedic Surgery, Faculty of Medicine, Ain Shams University, Cairo, - - 2014
Synthetic bio-degradable materials have been used as an artificial barrier in prophylaxis of adhesions. We report on the use of lactid caprolacton film (Mesofol(®)) in recurrent carpal tunnel syndrome. We hypothesise that its use will give favourable results regarding the functional outcome and the recurrence rate. Fourteen patients were prospectively ...
Montesinos María Luz - - 2014
DSCAMs (Down syndrome cell adhesion molecules) are a group of immunoglobulin-like transmembrane proteins that contain fibronectin III domains. The founding member of the family was isolated in a positional cloning study that sought to identify genes located on chromosome 21 at the locus 21q22.2-q22.3 that is implicated in the neurological ...
Hernández-Torruco José J División Académica de Informática y Sistemas, Universidad Juárez Autónoma de Tabasco, Km. 1 Carretera Cunduacán-Jalpa de Méndez, Colonia La Esmeralda, 86690 Cunduacán, TAB, - - 2014
Guillain-Barré syndrome (GBS) is a neurological disorder which has not been explored using clustering algorithms. Clustering algorithms perform more efficiently when they work only with relevant features. In this work, we applied correlation-based feature selection (CFS), chi-squared, information gain, symmetrical uncertainty, and consistency filter methods to select the most relevant ...
Hester Christian C CC Department of Ophthalmology, California Pacific Medical Center, University of California, San Francisco, California, - - 2013
A 70-year-old woman sought treatment for confluent flesh-colored papules on all 4 eyelids. Sixteen family members were reported to have similar lesions involving the face and scalp. Initial histopathologic examination of the lesions was interpreted as basal cell carcinoma, but on further review, the lesions were deemed to be consistent ...
Pasternack S M - - 2012
The oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder characterized by the triad of congenital cataracts, mental retardation and a renal proximal tubulopathy. Although severity of phenotype might vary, congenital cataracts are part of the definition of this rare disorder.We report a 13-year-old patient with the typical cerebrorenal phenotype ...
Scholl Ute I - - 2012
BACKGROUND: Mutations in the K(+) channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of Gitelman syndrome, with hypokalemic alkalosis, ...
Lankford Jeremy - - 2012
Acute cerebellitis in children is an inflammatory syndrome with symptoms of cerebellar dysfunction. We describe a 3-year-old boy with acute cerebellitis who had cerebellar tonsillar herniation, hydrocephalus, and transient tonic bilateral upward gaze deviation. Although no etiology for his acute cerebellitis was determined, he fully recovered with high-dose corticosteroids, intravenous ...
Chen Kaitian - - 2012
OBJECTIVE: Pendred syndrome is one of the most common hereditary determined diseases in patients with syndromic sensorineural hearing impairment. Mutations in the SLC26A4 gene are a major cause of Pendred syndrome. However, Pendred syndrome is quite rare in China. This investigation aims to identify genetic cause of a Chinese family ...
Kim Hyun-Ah - - 2012
Acute vestibular syndrome (AVS) is characterized by acute onset of spontaneous prolonged vertigo (lasting days), spontaneous nystagmus, postural instability, and autonomic symptoms. Peripheral AVS commonly presents as vestibular neuritis, but may also include other disorders such as Meniere's disease. Vertigo in central AVS due to vertebrobasilar ischemic stroke is usually ...
Coutton Charles - - 2012
Many deletions of chromosome 17p13.1 have been described, but very few 17p13.1 duplications have been reported yet. Here, we describe the genotype and phenotype of a boy with a duplication of this region. The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver-Russell syndrome (SRS) appearance ...
Afshar Maryam - - 2012
Posterior fossa syndrome (PFS), also known as cerebellar affective syndrome, is characterized by emotional lability and decreased speech production following injury or surgery to the cerebellum. Rarely, oculomotor dysfunction has been described in association with PFS. Here, we report a case of complete ocular paresis associated with PFS in an ...
Yagnik Garima G Section of Genetics, Department of Pediatrics, University of California-Davis, Sacramento, CA 95817, - - 2012
Craniosynostosis is the early fusion of one or more sutures of the infant skull and is a common defect occurring in approximately 1 of every 2,500 live births. Nonsyndromic craniosynostosis (NSC) accounts for approximately 80% of all cases and is thought to have strong genetic determinants that are yet to ...
Thomas Sophie - - 2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations ...
Gong S-G - - 2012
This study aimed to review and discuss the utility of the Fgfr2 ( W290R ) mouse mutant as a model of human Crouzon syndrome. A review of current and past scientific literature on Fibroblast Growth Factor Receptor-2 (FGFR2) protein domain structure, FGFR mutations associated with human Crouzon syndrome, and phenotypic ...
Holmes Greg - - 2012
Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert ...
Nah Hyun-Duck HD Plastic and Reconstructive Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. - - 2012
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and hearing loss. However, the spectrum of clinical presentation continues to expand. To better understand the pathophysiology of ...
Wang Wei W Department of Biology, Indiana University, Bloomington, - - 2012
Most common genetic factors known to cause intellectual disability are Down syndrome and Fragile X syndrome. However, the underlying cellular and molecular mechanisms of intellectual disability remain unclear. Recently, dendritic spine dysmorphogenesis and impaired local protein synthesis are posited to contribute to the cellular mechanisms of intellectual disability. Here, we ...
Kim S E - - 2012
Irritable bowel syndrome and other gastrointestinal (GI) and non-GI disorders such as functional dyspepsia, fibromyalgia, temporomandibular joint disorder, interstitial cystitis/painful bladder syndrome, and chronic fatigue syndrome are known as functional pain syndromes. They commonly coexist within the same individual. The pathophysiologic mechanisms of these disorders are not well understood, but ...
Rocha Ruben - - 2012
We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A heterozygous duplication of one nucleotide (a c.715dupA ...
Ekstrand Jeffrey J - - 2012
Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs ...
Albanese Alberto - - 2012
This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes. The term dystonia indicates at the same time a clinical phenotype and a collection of neurological syndromes mainly of genetic origin. The physical signs contributing to the phenomenology of dystonia have been ...
Ponti Giovanni - - 2012
Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon ...
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