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Sharma Atul A Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, - - 2014
Data on frequency of fecal evacuation disorder (FED) among patients with solitary rectal ulcer syndrome (SRUS), hitherto an enigmatic condition, are scanty. Moreover, most such studies had limitations due to small sample size and lack of inclusion of healthy controls (HC). Forty patients with SRUS underwent symptom assessments, sigmoidoscopy, anorectal ...
Ogura Kaeko K Department of Rehabilitation for Brain Functions, Developmental Disability Study Section, Research Institute of National Rehabilitation Center for Persons with Disabilities, Tokorozawa, Japan; Department of Behavioral Neurology and Cognitive Neuroscience, Tohoku University Graduate School of Medicine, Sendai, - - 2014
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a ...
Patidar Yashwant Y Department of Radiodiagnosis, - - 2014
Pulmonary gas exchange abnormalities and refractory hypoxemia cause myriad difficulties in patients with chronic liver disease. In addition to intrinsic cardiopulmonary diseases and hepatopulmonary syndrome, some unusual pathophysiological mechanisms in patients with portosystemic collaterals might contribute to hypoxemia. We report the clinical presentation of an unusual portosystemic anatomic shunt that ...
Bombery Melissa M From the Department of Pathology, University of Michigan Health System, Ann - - 2014
Transient abnormal myelopoiesis occurs exclusively in patients with Down syndrome (constitutional trisomy 21), manifests in the neonatal period, and is characterized by circulating megakaryoblasts with varied degrees of multisystem organ involvement. In most cases, this process resolves spontaneously by 3 to 6 months of age, but for some, the disease ...
Moriwaki Koichi K Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Saitama, - - 2014
We analyzed the cytogenetics and clinical features of pediatric myelodysplastic syndrome (MDS) in Japan. Data on patients (<16 years) diagnosed with MDS from 1990 to 2000 were retrospectively collected from pediatric hematologists in 234 institutions. Chromosome analysis was successfully performed in 255 of 277 MDS patients. The numbers of patients with ...
Passeri Elena - - 2014
Physiological functioning of the testes is important for cardiac health besides for virilisation, physical strength, behavior and reproduction; moreover, hypogonadism has been demonstrated as a significant risk marker of increased all-cause and cardiovascular mortality.Cases presentation: We reported two cases of long-standing hypogonadotropic hypogonadism presenting with wasting, bradycardia and heart failure. ...
Pasqualim Gabriela G Post-Graduate Program on Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, - - 2014
Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency ofα-L-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. Here we describe the case of four male patients who present the previously undescribed p.L18P mutation.Patient 1 (p.L18P/p.L18P) presents, despite multiple joint contractures, an attenuated phenotype. Patient ...
Dworschak Gabriel C GC Institute of Human Genetics, University of Bonn, Bonn, - - 2014
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) ...
Rodrigues Marcelo Palmeira MP School of Medicine, Universidade de Brasília (UnB), Brasília, - - 2014
Different functional respiratory alterations have been described in acromegaly, but their relationship with pulmonary tissue abnormalities is unknown. The objective of this study was to observe possible changes in lung structure and explain their relationship with gas exchange abnormalities. Cross-sectional analytical study with a control group, conducted at a university ...
Shin Hae-Won HW Department of Neurology, Chung-Ang University College of Medicine, Seoul, - - 2014
Drug-induced parkinsonism (DIP) is the common cause of parkinsonism. It is difficult to make a differentiation between DIP and Parkinson's disease (PD) because there are no notable differences in the clinical characteristics between the two entities. In this study, we examined the relationship between the characteristics of [(18)F] fluorinated-N-3-fluoropropyl-2-β-carboxymethoxy-3-β-(4-iodophenyl)nortropane (FP-CIT) ...
Yahalom Gilad G Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, 52621, Israel, - - 2014
Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients ...
Kato Kazuhiro K From the Departments of Epileptology (K.K., K.J., H.I., Y.K., N.N.), Neurosurgery (M.I.), and Neurology (K.K., M.A.), Tohoku University Graduate School of Medicine, Sendai, - - 2014
To clarify whether the presence and timing of peri-ictal heart rate (HR) change is a seizure lateralizing sign in patients with mesial temporal lobe epilepsy (mTLE). Long-term video EEGs were retrospectively reviewed in 21 patients, 7 men and 14 women aged 13 to 67 years, diagnosed as mTLE with MRI ...
Walter Maggie C MC From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany. - - 2014
We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease. We performed a detailed clinical and paraclinical characterization and 10-year follow-up study in 16 patients with molecularly defined ...
Chen Ching-Jen CJ Department of Neurological Surgery, University of Virginia Health System, Charlottesville, - - 2014
Object Seizures are a common presentation of cerebral arteriovenous malformations (AVMs). The authors evaluated the efficacy of stereotactic radiosurgery (SRS) for the management of seizures associated with AVMs and identified factors influencing seizure outcomes following SRS for AVMs. Methods A systematic literature review was performed using PubMed. Studies selected for ...
van Ochten John M JM Department of Radiology, Albert Schweitzer Hospital Dordrecht, the - - 2014
Persistent complaints are very common after a lateral ankle sprain. To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Observational case control study on primary care patients in general practice. Patients were selected who had visited their GP with an ...
Moro Adriana A Setor de Neurologia, Departamento de Medicina Interna, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, - - 2014
Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. ...
Redfern R E RE Research Department,Toledo - - 2014
Objective: To determine the incidence of high jugular bulb in a group of patients with definite Ménière's disease, and to investigate whether the position or size of the jugular bulb is significantly different in the affected ear than in the unaffected ear. Methods: Retrospective review of patient charts, audiograms, and ...
Liang Jackson J JJ Department of Internal Medicine, Mayo Clinic, Rochester, - - 2014
Endomyocardial biopsy (EMB) is valuable in determining the underlying etiology of a cardiomyopathy. The sensitivity, however, for focal disorders, such as lymphocytic myocarditis and cardiac sarcoidosis (CS), is low. The sensitivity of routine fluoroscopically guided EMB is low. Abnormal intracardiac electrograms are seen at sites of myocardial disease. However, the exact value ...
Watanabe-Okada Emiko E Department of Dermatology, Keio University School of Medicine, Tokyo; Division of Dermatology, Kawasaki Municipal Hospital, Kawasaki, - - 2014
Histopathological comparison between clinically affected and intact regions in alopecia patients has been considered to facilitate better understanding of the pathophysiology of ongoing disease. Theoretically, adjacent intact regions should provide ideal controls as they should share close histological characteristics, however, to what extent clinically non-affected neighboring regions maintain their pathological ...
Azzam Raed R Vanderbilt University Medical Center, Nashville, - - 2014
Wicket spikes (WS) are a benign EEG variant classically defined to be bilateral independent temporal in localization. We observed that the majority of WS are exclusively unilateral temporal. Our aim is to identify the laterality and clinical significance of the WS. Epilepsy monitoring unit reports of adult patients were searched ...
Shi Qi - - 2014
Here we reported a Chinese case of Creutzfeldt-Jacob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she ...
Kim Sang-Wook SW Institute of Health Sciences, Gyeongsang National University, Jinju, Korea. ; Department of Otorhinolaryngology, Gyeongsang National University Hospital, Jinju, - - 2014
Patients with smell loss after craniocerebral trauma are known to have some brain abnormalities, but there was no study to analyze the findings according to the time interval between injury and evaluation. We aimed to identify whether the time interval may influence on the findings in the brain. Medical records ...
Lin Lung-Chang LC Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, No. 100, Shih-Chuan 1st Rd., Kaohsiung City 80708, - - 2014
Refractory epilepsy often has deleterious effects on an individual's health and quality of life. Early identification of patients whose seizures are refractory to antiepileptic drugs is important in considering the use of alternative treatments. Although idiopathic epilepsy is regarded as having a significantly lower risk factor of developing refractory epilepsy, ...
Chandran Vijay V Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, - - 2014
Spinocerebellar ataxias (SCA) are a clinically heterogeneous group of disorders that are characterized by ataxia and an autosomal dominant pattern of inheritance. The aim of our study was to describe the findings of evoked potentials (EPs) among genetically proven SCA types 1, 2, and 3 and to additionally evaluate if ...
Sinawat Suthasinee - - 2014
To review the clinical manifestations and neuroimaging features of patients with Sturge-Weber syndrome (SWS) treated at Srinagarind Hospital over a 12-year period. A retrospective study of sixteen patients with SWS (9 males and 7 females) was conducted. The medical records, photographs, and neuroimaging studies were reviewed All patients had port-wine ...
Tan Rachel H RH Neuroscience Research Australia, Randwick, New South Wales, Australia; School of Medical Sciences, University of New South Wales, Randwick, New South Wales, - - 2014
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features. The cerebellum has long been known to be crucial for intact motor function although emerging evidence over the past decade has attributed cognitive and neuropsychiatric processes to this ...
Jorgez Carolina J CJ Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, United States of America; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, United States of - - 2014
Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%). Bladder exstrophy and epispadias complex (BEEC) (1∶47000) occurs less frequently but significantly impacts patients' lives. Array comparative genomic ...
Schanilec Paula P From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 "Retrospective Study of Aniridia." - - 2014
Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized. Much of the literature on aniridia focuses on genetic factors of the disorder and associated abnormalities, both ocular and nonocular. The field of research ...
Kerr Wesley T WT Laboratory of Integrative Neuroimaging Technology University of California, Los Angeles Los Angeles, - - 2013
The application of machine learning to epilepsy can be used both to develop clinically useful computer-aided diagnostic tools, and to reveal pathologically relevant insights into the disease. Such studies most frequently use neurologically normal patients as the control group to maximize the pathologic insight yielded from the model. This practice ...
Lee Ah Young AY Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Namku, Daegu 705-717, Republic of - - 2013
We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar ...
Nardone Raffaele - - 2012
Central cholinergic dysfunction has been reported in patients with Parkinson's disease (PD) and hallucinations by evaluating short latency afferent inhibition (SAI), a transcranial magnetic stimulation protocol which gives the possibility to test an inhibitory cholinergic circuit in the human brain. REM sleep behavior disorder (RBD) was also found to be ...
Shiraishi Koji - - 2012
Introduction.  The incidence of Peyronie's disease (PD) in the general population is believed to be as high as 20%. However, most of the data concerning the prevalence of PD have been obtained from Caucasian populations. Aim.  The aim of this study was to examine the prevalence of PD in Asia ...
Lu Chunming - - 2012
The aim of the current study was to differentiate between neural activity that represents neural anomalies that are responsible for persistent developmental stuttering (PDS) from the activity that is a result of compensating for stuttering. This was done by investigating alterations to the intrinsic functional architecture of speech-language processes of ...
Wu Jin-Ming - - 2012
BACKGROUND: New-onset diabetes mellitus (DM) is associated with pancreatic ductal cell adenocarcinoma (PDCA) and can resolve after pancreaticoduodenectomy (PD). Whether DM also resolves after PD in patients operated for disease other than PDCA remains to be determined. METHODS: We compared glycemic status before and after PD between patients with and ...
Ha Jennifer F - - 2012
The increased understanding on the impact of partial deafness (PD) with residual low-frequency hearing has led to new hearing rehabilitation strategies using hearing preservation techniques during cochlear implantation with the aim to make use of the combined electric acoustic stimulation (EAS) in the affected ear. As a first report, we ...
Pedersen Gyrithe L GL Department of Clinical Neurophysiology, Glostrup Hospital, University of Copenhagen, Glostrup, - - 2013
To examine if periodic EEG discharges (PDs) predict poor outcome and development of epilepsy in patients with acute brain illnesses irrespective of underlying cerebral pathology. In case-control study we retrospectively analyzed outcome of 102 patients with PDs and 102 age-, gender- and etiology matched controls without PDs. Of cases, 46.1% ...
Stockner Heike - - 2012
Approximately 10% of patients clinically diagnosed with early Parkinson's disease (PD) subsequently have normal dopaminergic functional imaging. Transcranial sonography (TCS) has been shown to detect midbrain hyperechogenicity in approximately 90% of Parkinson's disease (PD) patients and 10% of the healthy population. The aim of this study was to investigate the ...
Berti V V Department of Clinical Pathophysiology, Nuclear Medicine Division, University of Florence, Florence, Italy. - - 2012
Previous positron emission tomography (PET) [18F]fluorodeoxyglucose ([18F]FDG) studies in Parkinson's disease (PD) demonstrated that moderate to late stage patients display widespread cortical hypometabolism, whereas early stage PD patients exhibit little or no cortical changes. However, recent studies suggested that conventional data normalization procedures may not always be valid, and demonstrated ...
Drake Lucas M - - 2012
GOALS:: Endoscopic retrograde pancreatography is the gold standard diagnostic study for pancreatic duct (PD) pathology but carries significant risks. Our aim was to assess the ability of magnetic resonance cholangiopancreatography (MRCP) to delineate PD disruption. BACKGROUND:: PD disruption is a significant clinical event and portends a more severe clinical course ...
Perl Jeffrey - - 2012
In the last 15 years in Canada, there have been less stringent guidelines for peritoneal dialysis (PD) adequacy, availability of novel PD solutions, and lower PD-related peritonitis rates. Effects of these changes on outcomes of incident patients treated with PD during this period are unknown. Risk of PD technique failure ...
Bajaj N P S - - 2012
Handwriting examinations are commonly performed in the analysis of tremor and Parkinson's disease (PD). We analyzed the accuracy of subjective and objective assessment of handwriting samples for distinguishing 27 PD cases, 22 with tremulous PD, and five with akinetic-rigid PD, from 39 movement-disorder patients with normal presynaptic dopamine imaging (subjects ...
Poletti Michele - - 2012
Background and aims(1) To establish the prevalence of mild cognitive impairment (MCI) in newly diagnosed drug-naive patients with Parkinson's disease adopting recently proposed and more conservative preliminary research criteria. (2) To investigate the relation between cognitive performances, MCI and motor dysfunction.Methods132 consecutive newly diagnosed drug-naive PD patients and 100 healthy ...
Rodriguez-Fornells Antoni - - 2012
Music-supported therapy (MST) has been developed recently to improve the use of the affected upper extremity after stroke. MST uses musical instruments, an electronic piano and an electronic drum set emitting piano sounds, to retrain fine and gross movements of the paretic upper extremity. In this paper, we first describe ...
Fan Stanley - - 2012
Introduction: Cardiovascular mortality remains high among peritoneal dialysis (PD) patients. Several small studies have suggested that PD patients are volume expanded, and as such this could be a cardiovascular risk factor. We therefore wished to investigate factors which could lead to extracellular water (ECW) expansion. Methods: Retrospective cross-sectional audit of ...
De Cock Valérie Cochen - - 2012
Diagnosis of restless leg syndrome (RLS) in Parkinson's disease (PD) is difficult because of clinical confounds. The suggested immobilization test (SIT) is validated for diagnosis of primary RLS. This study evaluated the usefulness of the SIT for diagnosis of RLS in PD. We compared SIT scores, as well as polysomnography ...
Marinangeli Giancarlo - - 2012
To understand how peritoneal dialysis (PD) was being used in Italy in 2005 and 2008, a census of all centers was carried out. In 2005 and 2008, data were collected from, respectively, 222 and 223 centers, with respect to 4432 and 4094 prevalent patients. In the two periods, the PD ...
Chen Wei - - 2012
As one of the most common non-motor symptoms in Parkinson's disease (PD), hyposmia is of great importance in establishing the early diagnosis of PD. To date, there are still no studies on the application of the 16-item odor identification test from Sniffin' Sticks (SS-16) in Chinese patients with PD. The ...
Oh Minyoung - - 2012
Parkinson disease (PD), progressive supranuclear palsy (PSP), and multiple-system atrophy (MSA) are known to affect dopaminergic neurons of the brain stem and striatum with different preferential involvement. Here we investigated differences in striatal subregional dopamine transporter loss in PD, PSP, and MSA and assessed the diagnostic value of (18)F-fluorinated-N-3-fluoropropyl-2-β-carboxymethoxy-3-β-(4-iodophenyl)nortropane ((18)F-FP-CIT) ...
Kostic V S - - 2012
OBJECTIVE:To investigate whether a specific pattern of gray matter (GM) tissue loss is associated with freezing of gait (FOG) in patients with Parkinson disease (PD). METHODS:Seventeen patients with PD with FOG (PD-FOG), 20 patients with PD with no FOG (PD-noFOG), and 34 healthy control subjects were recruited. PD-FOG and PD-noFOG ...
Kim Joong-Seok - - 2012
Background: Hyperechogenicity of substantia nigra (SN+) is a common finding in transcranial ultrasound studies of parkinsonian patients. However, this feature is also found in 13-16% of ET patients. The possible links between ET and PD are of special interest, particularly with the familial aggregated data supporting this association. However, few ...
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