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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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Kariminejad Ariana - - 2012
This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents. Megalencephaly and bilateral postaxial polydactyly of upper and lower limbs were noted at birth. He had profound developmental delay and moderate hypotonia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus, polymicrogyria in ...
Moynihan Gerard - - 2012
Subarachnoid haemorrhage is a condition that usually presents with headache and altered mental state. We report the case of a 50-year-old man with subarachnoid haemorrhage who presented with Terson's syndrome. This is a condition where there is retinal or vitreous haemorrhage secondary to subarachnoid or subdural haemorrhage.
Terelak-Borys Barbara - - 2012
Ocular ischemic syndrome is a rare condition, which is caused by ocular hypoperfusion due to stenosis or occlusion of the common or internal carotid arteries. Atherosclerosis is the major cause of changes in the carotid arteries. Ocular ischemic syndrome is manifested as visual loss, orbital pain and, frequently, changes of ...
Luo Hong - - 2012
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital ...
Chen Chih-Ping - - 2012
We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and ...
Peces Ramón - - 2012
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate (PIP2P) 5-phosphatase, is responsible for the phenotypic characteristics of the disease. We report a 22-year-old male with a severe form of OCRL syndrome, diagnosed ...
Ronquillo C C CC Program in Neuroscience, University of Utah Health Science Center, Salt Lake City, UT 84132, - - 2012
Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) have been shown to cause SLS. The proteins encoded by these genes are localized ...
Cappellette Mario M - - 2012
The oromandibular and limb hypogenesis syndrome is characterized by aglossia or hypoglossia presenting with limb anomalies. In this case report, we describe congenital hypoglossia associated with glossopalatine ankylosis and middle finger hypomelia, a type III-D malformation in the Hall Classification. The orthodontic and surgical treatment consisted of 3 maxillary expansions, ...
Desai Jay - - 2012
Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation. There is considerable overlap between these entities. The mildest cases of acute cerebellar ataxia represent a benign condition that is characterized by acute truncal and gait ataxia, variably with appendicular ataxia, nystagmus, dysarthria, ...
Garavelli Livia - - 2012
The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with ...
Marín-Lambíes Cristina - - 2012
ABSTRACT:: Pourfour du Petit syndrome is a rare dysautonomic disorder characterized by mydriasis, eyelid retraction, and hyperhidrosis and is caused by irritative stimulation of the sympathetic cervical chain. The authors describe a 45-year-old woman with iris heterochromia, who presented with episodes of ipsilateral mydriasis and hyperhidrosis and was found to ...
Xu Ji J Department of Physiology, University of California, Los Angeles, CA 90095, - - 2013
Defects in several different connexins have been associated with several different diseases. The most common of these is deafness, where a few mutations in connexin (Cx) 26 have been found to contribute to over 50% of the incidence of non-syndromic deafness in different human populations. Other mutations in Cx26 or ...
Pebrel-Richard Céline - - 2012
Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. We present an atypical and ...
Huber Celine - - 2012
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of signals in the hedgehog pathway that is ...
Campeau Philippe M PM Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. - - 2012
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. MYST4/MORF). All variants are de novo dominant mutations that lead to protein truncation. Mutations leading to GPS occur in the proximal portion of ...
Saleem Moin A - - 2012
Nephrotic syndrome is a disorder of the glomerular filtration barrier, a highly specialised tri-layer structure with unique functional properties. Recent advances emanating from the field of molecular genetics have revealed the podocyte as probably the central player in the control of glomerular filtration. More specifically, the cell-cell junction between adjacent ...
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