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Kumar Ajay A Department of Pediatrics, Children's Hospital of Michigan, Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI, USA Department of Neurology, Children's Hospital of Michigan, Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI, USA Department of Radiology, Children's Hospital of Michigan, Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI, USA Department of Positron Emission Tomography Center, Children's Hospital of Michigan, Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI, USA - - 2014
We applied PET scanning with (11)C-[R]-PK11195 (PK) to evaluate neuroinflammatory changes in basal ganglia and thalamus in children with clinically diagnosed pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and Tourette syndrome. Seventeen children with PANDAS (mean age: 11.4 ± 2.6 years; 13 males), 12 with Tourette syndrome (mean ...
Henneberg Maciej M School of Medical Sciences, The University of Adelaide, Adelaide, SA 5005, - - 2014
Human skeletons from Liang Bua Cave, Flores, Indonesia, are coeval with only Homo sapiens populations worldwide and no other previously known hominins. We report here for the first time to our knowledge the occipitofrontal circumference of specimen LB1. This datum makes it possible to link the 430-mL endocranial volume of ...
Lepage Jean-François JF a Département de psychologie , Université de Montréal , Montréal , - - 2014
Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of ...
Sakata Hiroyuki H Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, - - 2014
Sjögren syndrome affecting the major cerebral arteries is rare, and an optimal therapeutic strategy to counteract such a lesion has not yet been established. We herein report a case of a 39-year-old woman with a history of primary Sjögren syndrome, which had previously been treated with immunosuppressive therapy, manifesting with ...
Jacquot Cyril - - 2014
Posterior reversible encephalopathy syndrome (PRES) is defined by a spectrum of clinical symptoms and characteristic radiologic findings. Most patients show clinical recovery and normalization of imaging, even though a subset of rare cases may progress to cytotoxic edema, irreversible damage, and persistent radiological findings. As the condition is transient and ...
Grelat Michael - - 2014
Posterior reversible encephalopathy syndrome is a rare entity. Its pathophysiology is still poorly understood. We report the case of a 69-year-old White European woman who presented complete and proportional right hemiplegia, confusion, deviation of her head and eyes to the right, cortical blindness, and generalized tonic-clonic seizure 12 hours following ...
Tanaka Tomotaka - - 2014
Cerebral salt-wasting syndrome is a condition featuring hyponatremia and dehydration caused by head injury, operation on the brain, subarachnoid hemorrhage, brain tumor and so on. However, there are a few reports of cerebral salt-wasting syndrome caused by cerebral infarction. We describe a patient with cerebral infarction who developed cerebral salt-wasting ...
Dweikat Imad M IM An-Najah National University, Metabolic. Faculty of Medicine and Health Sciences, Nablus - - 2014
We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential ...
Tadic Marijana M aUniversity Clinical Hospital Center 'Dr Dragisa Misovic', Heroja Milana Tepica 1, Belgrade, Serbia bUniversity of Milan-Bicocca and Istituto Auxologico Italiano, Clinical Research Unit, Viale della Resistenza 23, Meda, Italy cClinical Centre of Serbia, Clinic of Cardiology, Koste Todorovic 8 dFaculty of Medicine, Doktora Subotica 6 eClinical Centre of Serbia, Clinic of Gastroenterology, Koste Todorovic 2, Belgrade, - - 2014
To evaluate left-ventricular mechanics estimated by two-dimensional echocardiography (2DE) speckle tracking analyses in patients with the metabolic syndrome. This cross-sectional study included 95 untreated patients with metabolic syndrome and 65 controls similar by sex and age. Metabolic syndrome was defined by the presence of at least three ATP-AHA-NHLB criteria. All ...
Lohse-Busch H H Outpatient Department for Manual Medicine - Movement Disorder Center, Rheintalklinik, Bad Krozingen, - - 2014
Can stimulation of nerve growth factors by focused transcranial extracorporeal shock wave therapy (TESWT) be made effective for persons within unresponsive wakefulness syndrome (apallic syndrome)? Between eight and 18 years after the brain lesion, five patients with unresponsive wakefulness syndrome of differing severity received TESWT with the device Duolith (Storz ...
Dekair Lubna H LH Children`s Rehabilitation Section, Department of Pediatrics, Hamad Medical Corporation, Doha, - - 2014
Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation ...
Ozgur Anıl A Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, - - 2014
Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly ...
Bruno Jennifer Lynn - - 2014
The authors sought to investigate neural system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversion, among other social and cognitive deficits. Participants (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25 individuals without ...
Bartolotta Roger J RJ New York-Presbyterian Hospital/Weill Cornell Medical College, 525 E. 68th Street, New York, NY 10065. Electronic address: - - 2014
Mueller-Weiss syndrome (MWS), or spontaneous osteonecrosis of the tarsal navicular in adults, is a rare cause of chronic medial midfoot pain. MWS has been described in orthopedic, podiatric, and radiologic literature without consensus agreement on its pathophysiology and treatment. We present the radiographic and magnetic resonance imaging of a case ...
Fu Fang F Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, - - 2014
MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal ...
Taniguchi Masahiko M Division of Gastroenterologic and General Surgery, Department of Surgery, Asahikawa Medical College, 2-1 Midorigaoka-Higashi, Asahikawa, 078-8510, Japan, - - 2014
In living-donor liver transplantation with a left lobe graft, which can reduce the burden on the donor compared to right lobe graft, the main problem is small-for-size (SFS) syndrome. SFS syndrome is a multifactorial disease that includes aspects related to the graft size, graft quality, recipient factors and even technical ...
Kim Hanjun H Yonsei University Wonju College of Medicine, Department of Laboratory Medicine, Wonju, - - 2014
A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the "golden hour" for treatment having passed and a low platelet count. The peripheral blood smear, ...
Kim Christina A K CA Cross Cancer Institute, 11560 University Avenue NW, Edmonton, AB, T6G 1Z2, Canada, - - 2014
Background Reversible posterior leukoenecphalopathy syndrome (RPLS) is a rare clinicoradiologic syndrome characterized by neurologic symptoms such as seizures, headaches, visual abnormalities, confusion and encephalopathy, accompanied by vasogenic edema of posterior white matter seen on neuroimaging. It has been reported in association with many anti-angiogenic therapies, including bevacizumab, sunitinib, sorafenib, pazopanib ...
Mejia Juan Diego - - 2014
Abstract Hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome (HDRS) is comprised of a triad of conditions. It is an autosomal dominant condition caused by mutations in the GATA3 gene, located at 10p15, a critical region in the development of the embryonic parathyroid glands, inner ear, and kidneys. Here we describe ...
Kim Jeong-Min - - 2014
Hyponatremia has been reported from patients with severe neurological disease, and the syndrome of inappropriate secretion of antidiuretic hormone and cerebral salt wasting syndrome are the two main etiologies of hyponatremia after brain injury. Here we describe a patient with a lateral medullary infarction who experienced symptomatic hyponatremia with finding ...
Wang Lixia L Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, - - 2014
Joubert syndrome is a neurologic disorder with a pathognomonic "molar tooth sign" on brain imaging. The purpose of this study was to identify potential mutations in a Chinese patient with Joubert syndrome by targeted massively parallel sequencing. Taking advantage of high-throughput DNA sequencing technologies, 18 Joubert-causing genes of a Chinese ...
Kobayashi Yu Y Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan. Electronic address: - - 2014
Gómez-López-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature. This female ...
Torrelo A A Hospital Niño Jesus, Department of Dermatology, Menendez Pelayo 65, Madrid, 28034, - - 2014
Gorlin syndrome (GS) or nevoid basal cell carcinoma syndrome is one of the tumor prone genetic syndromes in humans that lead to the development of multiple basal cell carcinomas (BCCs) of the skin. Other features of GS include macrocephaly, frontal bossing, hypertelorism, coarse facial features, keratocystic odontogenic tumours, calcification of ...
Zarate Yuri A - - 2014
Mandibulofacial dysostosis with microcephaly is a rare syndromic craniofacial condition caused by heterozygous loss-of-function mutations of the EFTUD2 gene on 17q21.31. Thus far, the described musculoskeletal findings in patients with this condition include proximally placed or duplicated thumbs, overlapping toes, and toe syndactyly. We describe a severe case of a ...
Elmann Solly S Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York, - - 2014
A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the ...
Bosemani Thangamadhan T Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Charlotte R. Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD, 21287-0842, USA, - - 2014
Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of ...
Le Eileen M EM Department of Neuro-Oncology, University of Texas MD Anderson Cancer Center, P.O. Box 301402, Unit #431, Houston, TX, 77232-1402, USA, - - 2014
Posterior reversible encephalopathy syndrome is a well-recognized entity associated with a variety of benign and malignant conditions. This syndrome typically manifests itself with headache, visual loss, and seizures. Radiographic abnormalities consist of white matter edema involving the posterior parietal and occipital lobes, manifested as increased T2 and fluid-attenuated inversion recovery ...
Manara R R From the Department of Neuroradiology (R.M., F.D.S.), University of Salerno, Salerno, Italy; Istituto di Ricovero e Cura a Carattere Scientifico S. Camillo (R.M., V.C.), Venezia, Italy; Departments of Neurology (A.S.), and Psychiatry (A.F.), Department of Neurosciences; Unità di Endocrinologia (G.B.), Department of Medicine, University of Padova, Padova, Italy; Department of Clinical and Experimental Medicine and Surgery (V.P., A.A.S.), Endocrinology and Medical Andrology Section, Second University of Napoli, Napoli, Italy; and Department of Neuroradiology (A.E., A.B.), Department of Scienze Biomediche Avanzate, and ENT section (R.M., A.S.), Department of Neurosciences, "Federico II" University, Napoli, - - 2014
Kallmann syndrome is a rare inherited disorder due to defective intrauterine migration of olfactory axons and gonadotropin-releasing hormone neurons, leading to rhinencephalon hypoplasia and hypogonadotropic hypogonadism. Concomitant brain developmental abnormalities have been described. Our aim was to investigate Kallmann syndrome-related brain changes with conventional and novel quantitative MR imaging analyses. ...
Whalen Lesta D LD Department of Pediatric Critical Care, University of Arizona, Tucson, Arizona. Electronic address: - - 2014
Fat embolism syndrome is a life-threatening condition with treatment centering on the provision of excellent supportive care and early fracture fixation. No pharmacologic intervention has yet shown any clear benefit. We used high-dose rosuvastatin specifically for its anti-inflammatory effects to treat a patient with severe fat embolism syndrome. We also ...
Fountain Daniel M DM Office Médico-Pédagogique, Université de Genève, Switzerland. Electronic address: - - 2014
There is increasing evidence that congenital heart disease (CHD) affects brain structure, but little is known about the long-term trajectory of brain maturation and its impact on the cognitive development of patients with CHD. We proposed to address this question in a longitudinally-followed cohort of individuals with 22q11.2 deletion syndrome ...
Cooper Chad J CJ Department of Internal Medicine, Texas Tech University Health Sciences Center , El Paso, TX, - - 2014
West Nile virus (WNV) is an arthropod borne neurotropic single stranded RNA flavivirus with <1% developing presenting with neurological disease. Immunocompromised and elderly patients are more prone to developing WNV meningitis or encephalitis. Definitive diagnosis of WNV meningoencephalitis is a combination of clinical suspicion and cerebrospinal fluid (CSF) serology. Forty-eight ...
Imada Tatsuyuki T Department of Anesthesiology, Osaka City General Hospital and Children's Hospital, 2-13-22, Miyakojima-hondori, Miyakojimaku, Osaka, 534-0021, - - 2014
PHACE syndrome is a neurocutaneous syndrome characterized by the association of large cutaneous hemangiomas and the cardiac and cerebral vascular anomalies. We report a 6-year-old female with PHACE syndrome presented with left facial hemangiomas, cystic lesion in the cerebral posterior fossa, coarctation of the aorta, aplasia of the left vertebral ...
Ventura Elisa E Department of Neuroradiology, Parma University Hospital; Parma, Italy - - - 2014
Congenital absence of the internal carotid artery (ICA) is an extremely rare vascular anomaly. Aplasia and displacement of the horizontal portion of the petrous carotid artery have been described in a patient with mandibulofacial dysostosis. To the best of our knowledge, the association between Goldenhar syndrome and ipsilateral ICA agenesis ...
Maeda Yumi Y 1 Athinoula A. Martinos Centre for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Charlestown, MA, 02129, - - 2014
Carpal tunnel syndrome, a median nerve entrapment neuropathy, is characterized by sensorimotor deficits. Recent reports have shown that this syndrome is also characterized by functional and structural neuroplasticity in the primary somatosensory cortex of the brain. However, the linkage between this neuroplasticity and the functional deficits in carpal tunnel syndrome ...
Kim Deborah Rubin DR Penn Center for Women׳s Behavioral Wellness, Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, 3535 Market Street, 3rd Floor, Philadelphia, PA 19104, USA. Electronic address: - - 2014
In our studies of transcranial magnetic stimulation in pregnant women with major depressive disorder, two subjects had an episode of supine hypotensive syndrome and one subject had an episode of dizziness without hypotension. Prevention of the supine hypotensive syndrome in pregnant women receiving transcranial magnetic stimulation is described.
Junewar V V From the Departments of Neurology (V.J., R.V., R.K.G., M.K.S., H.S.M., P.K.S.), Obstetrics and Gynecology (P.L.S.), and Radiodiagnosis (A.P.), King George's Medical University, Lucknow, - - 2014
Posterior reversible encephalopathy syndrome is associated with eclampsia. We assessed the distribution and nature of typical and atypical cranial MR imaging findings in these patients and their correlation with clinical and laboratory data and predictors of outcome. Forty-five clinically confirmed cases of eclampsia were included in this prospective observational study. ...
Leng Yinglin Y Department of Neurology, Peking University First Hospital , Beijing , China - - 2014
Abstract Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed ...
Kameda Tomoaki T Department of Neurology, Jichi Medical University, - - 2014
Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and reversible cerebral vasoconstriction on angiographic findings. It can be difficult to diagnose when initial angiography is normal. A 30-year-old woman was admitted because of sudden-onset thunderclap headache and seizure on postpartum day 7. Brain MRI on fluid-attenuated inversion recovery (FLAIR) ...
Engineer Crystal T CT School of Behavioral and Brain Sciences, The University of Texas at Dallas, 800 West Campbell Road GR41, Richardson, TX 75080, United States. Electronic address: - - 2014
Fragile X syndrome is the most common inherited form of intellectual disability and the leading genetic cause of autism. Impaired phonological processing in fragile X syndrome interferes with the development of language skills. Although auditory cortex responses are known to be abnormal in fragile X syndrome, it is not clear ...
Disciglio Vittoria V Medical Genetics, University of Siena, Siena, - - 2014
Phelan-McDermid syndrome (22q13.3 deletion syndrome) is a contiguous gene disorder resulting from the deletion of the distal long arm of chromosome 22. SHANK3, a gene within the minimal critical region, is a candidate gene for the major neurological features of this syndrome. We report clinical and molecular data from a ...
Gorovoy Ian R IR Department of Ophthalmology, University of California-San Francisco, San Francisco, California. Electronic address: - - 2014
A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. Posterior segment examination revealed pigmented ocular fundus lesions (POFLs), which included cometoid dark lesions with depigmented tails and smaller, dark midperipheral lesions. The patient underwent resection for ...
Patil S Vinod V Postgraduate, Department of Radiology, Shri BM Patil Medical College, Hospital and Research Centre , Bijapur, Karnataka, India - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a rare acute neurologic condition, characterized by acute neurological symptoms. The radiological findings are predominantly seen in the posterior cerebral hemispheres and are reversible with appropriate management. We are reporting a case of a 21-year-old woman (primigravida), who presented with loss of vision, head ...
Sampath Kumar N S NS Department of Neurology, Narayana Medical College, Nellore, Andhra Pradesh, India. Electronic address: - - 2014
"Eight-and-a-half" syndrome is "one-and-a-half" syndrome (conjugated horizontal gaze palsy and internuclear ophthalmoplegia) plus ipsilateral fascicular cranial nerve seventh palsy. This rare condition, particularly when isolated, is caused by circumscribed lesions of the pontine tegmentum involving the abducens nucleus, the ipsilateral medial longitudinal fasciculus, and the adjacent facial colliculus. Its recognition ...
Gresz Veronika V Department of Oral Diagnostics, Semmelweis University, Szentkiralyi utca 47, H-1088, Budapest, - - 2014
In our current work in vivo examination of AQP5 distribution in labial salivary glands following stimulation of secretion has been done in normal individuals and in Sjögren's syndrome patients. For this study, we selected 5 patients with primary Sjögren's syndrome (mean age 62,4 + 10,6 SD years) diagnosed in accordance ...
Andersen Richard A RA Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA. Electronic address: - - 2014
Optic ataxia is a high-order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint's syndrome that also includes attentional and gaze disorders. Aspects of optic ataxia are misreaching in the contralesional visual field, difficulty preshaping the hand for grasping, ...
Sakurai Yasuhisa Y a Department of Neurology , Mitsui Memorial Hospital , Tokyo , - - 2014
We report a Japanese-speaking monolingual woman who developed foreign accent syndrome (FAS) following an infarction in the precentral and premotor cortices (Brodmann Area 6) at and around the inferior frontal sulcus. Her speech sounded Chinese or Korean to our bilingual coauthor who speaks Chinese and Japanese. Quantitative acoustic analyses of ...
Kato Shinsuke S †Division of Neuropathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine, Yonago, 683-8503, - - 2014
Wallenberg syndrome was first reported by Adolf Wallenberg as arising due to the obstruction of the posterior inferior cerebellar artery (PICA), which caused an infarct in the lateral medulla oblongata (MO). This study was carried out on brain tissue from 2 patients with typical Wallenberg syndrome and 10 autopsy cases ...
Giancotti A A Department of Obstetrics, Gynecology and Urologic Sciences, Umberto I Hospital, "Sapienza" University, Viale del Policlinico 155, 00161, Rome, Italy, - - 2014
The birth prevalence of Apert syndrome is estimated at 1:64,500 and accounts for about 4.5 % of all craniosynostosis with a male/female ratio equal to 1:1. It is associated to allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Majority cases are sporadic. Prenatal ultrasound diagnosis is based on ...
Navinan Mitrakrishnan Rayno - - 2014
Posterior reversible encephalopathy syndrome is a presentation which is diagnosed clinico-radiologically. The primary aetiological processes leading to posterior reversible encephalopathy syndrome are many, which include autoimmune conditions. Polyarteritis nodosa as an aetiological factor for posterior reversible encephalopathy syndrome is rare. We present a case of polyarteritis nodosa complicated by posterior ...
Iulita M Florencia MF 1 Department of Pharmacology and Therapeutics, McGill University, 3655 Sir-William-Osler Promenade, Montreal, H3G1Y6, - - 2014
Basal forebrain cholinergic neurons play a key role in cognition. This neuronal system is highly dependent on NGF for its synaptic integrity and the phenotypic maintenance of its cell bodies. Basal forebrain cholinergic neurons progressively degenerate in Alzheimer's disease and Down's syndrome, and their atrophy contributes to the manifestation of ...
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