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Chatterjee Sayan S Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India - - 2014
A 10-year-old girl presented with poorly controlled epilepsy. On evaluation, she had microcephaly, neuro-cutaneous stigmata of tuberous sclerosis complex, profound mental retardation, and spastic hemiparesis. Computed tomography (CT) revealed a calcified subependymal nodule and extensive left gyral calcification of the temporal, parietal, and occipital regions with unilateral cerebral atrophy, radiologic ...
Kardas Fatih F Department of Pediatric Nutrition and Metabolism, Erciyes University, 38039, Kayseri, Turkey, - - 2014
To assess the plasma Pentraxin 3 (PTX3) concentrations in obese children and to investigate the relationship between PTX3 levels and metabolic syndrome (MS) components. Seventy-seven obese patients aged 10-16 y (38 girls, 39 boys) were included in the study. PTX3 levels were compared between the groups with or without MS. In ...
Zhang Gui-Ming - - 2014
Metabolic syndrome (MS) is a cluster of metabolic abnormalities, which has been regarded as a pivotal risk factor for cardiovascular diseases. Recent studies focusing on the relationship between MS and cancer have recognized the significant role of MS on carcinogenesis. Likewise, growing evidence suggests that MS has a strong association ...
Liu Jiyan J Institute of Cell Biology, Zhejiang University, Hangzhou 310058, P.R.China; College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou, 310036, P. R. China. Electronic address: - - 2014
Chemotherapy is the mainstay of modern tuberculosis (TB) control. Traditional Chinese Medicine (TCM) can enhance the effect of anti-TB drug, promote the absorption of the foci in the lung and reduce drug toxicity. In TCM, the determination of treatment is based on ZHENG (also called TCM syndrome). To establish a ...
Shi Xiaofeng X Department of Hematology, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China; Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, - - 2014
POEMS syndrome, a rare paraneoplastic disease, is related to multiple organs, multiple systems, and multiple disciplines and can be mistaken for other disorders. Consequently, the diagnoses are often delayed. In this work we studied the clinicopathologic characteristics of the POEMS syndrome to improve early diagnosis to prevent irreversible damage. We ...
McCluskey Leo L Department of Neurology, University of Pennsylvania, United - - 2014
Autopsy studies show widespread pathology in amyotrophic lateral sclerosis (ALS), but clinical surveys of multisystem disease in ALS are rare. We investigated ALS-Plus syndrome, an understudied group of patients with clinical features extending beyond pyramidal and neuromuscular systems with or without cognitive/behavioral deficits. In a large, consecutively-ascertained cohort of 550 ...
Ahirwar Ashok Kumar AK Department of Biochemistry, LHMC, New Delhi, India. Electronic address: - - 2014
The metabolic syndrome (MS) consists of a constellation of metabolic abnormalities that confer increased risk of cardiovascular disease (CVD) and diabetes mellitus (DM). Visceral adipose tissue actively produces a variety of adipokines that interact in various obesity related disorders such as metabolic syndrome, diabetes mellitus and heart diseases. Adiponectin has ...
Hammannavar Reshma R Flat No. 10, Staff Quarters, Jawahar Foundation's ACPM Dental College, Sakri Road Dhule-424001, Maharashtra, India, Tel: +91-7798472117; e-mail: - - 2014
Occurrence of multiple odontogenic keratocyst involving the jaws is rare. When multiple, it is usually associated with a syndrome. Occurrence of multiple odontogenic keratocyst without syndromic association is extremely rare. Gorlin-Goltz syndrome which is also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant disorder. Multiple Odontogenic ...
Gwathmey Kelly K Department of Neurology, The University of Virginia, Charlottesville, - - 2014
Neurologists commonly use therapeutic plasma exchange (TPE) to treat a number of conditions. This concise review considers the most common neurologic indications for TPE. It focuses on Guillain-Barré syndrome and myasthenia gravis and also the role of TPE in chronic inflammatory demyelinating polyneuropathy, Lambert-Eaton syndrome, multiple sclerosis, neuromyelitis optica, paraproteinemic ...
Hagemeier J J From the Buffalo Neuroimaging Analysis Center (J.H., M.H.-B., T. Gabelic, N.B., E.C., R.Z.) and Baird MS Center (T. Guttuso, N.S., D.L., L.E.F., B.W.-G., R.Z.), Department of Neurology, University at Buffalo, Buffalo, New York; Department of Neurology (T. Gabelic), Referral Centre for Demyelinating Disease of the Central Nervous System, University Hospital Centre Zagreb, Zagreb, Croatia; Istituto Di Ricovero e Cura a Carattere Scientifico (N.B.), Don Gnocchi Foundation, Milan, Italy; and Department of Anatomy and Neurosciences (J.J.G.G.), Section of Clinical Neuroscience, VU University Medical Center, Amsterdam, the - - 2014
Identifying MRI biomarkers that can differentiate multiple sclerosis patients from other neurological disorders is a subject of intense research. Our aim was to investigate phase WM signal abnormalities for their presence, prevalence, location, and diagnostic value among patients with clinically isolated syndrome and other neurologic disorders and age-, sex-, and ...
Atabek Mehmet Emre ME Necmettin Erbakan University, School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Konya, 42080, - - 2014
The aim of this study was to identify which metabolic syndrome criteria (WHO or IDF) better reflect the presence of non-alcoholic fatty liver disease (NAFLD) and to determine the prevalence of metabolic syndrome (MS) and NAFLD. Two hundred and seventeen obese children and adolescents, 8-15 years of age (body mass index ...
Burgoyne Adam M AM aDivision of Hematology-Oncology and Department of Medicine, Moores UCSD Cancer Center, University of California, San Diego, La Jolla, California bDivision of Medical Oncology and Department of Internal Medicine, MD Andersen Cancer Center, University of Texas, Houston, Texas cDivision of Surgical Oncology and Department of Surgery, Moores UCSD Cancer Center, University of California, San Diego, La Jolla, California, - - 2014
Knowledge related to gastrointestinal stromal tumor (GIST) in the setting of nonhereditary and hereditary multiple tumor syndromes continues to expand. This review describes associations between sporadic GIST and second malignancies, as well as new contributions to our knowledge about hereditary GIST multiple tumor syndromes. Sporadic GIST patients have increased risk ...
Veros Konstantinos K 1st Department of Otorhinolaryngology-Head and Neck Surgery, Aristotle University of Thessaloniki, AHEPA University Hospital, 1 Stilponos Kyriakidi St, Thessaloniki, Greece. Electronic address: - - 2014
A case of a 34-year old woman with acute vestibular syndrome caused by a demyelinating lesion in the root entry zone of the 8th cranial nerve is presented. Neuro-otological bedside examination and suppression of transient evoked otoacoustic emissions provided objective clinical evidence of a retrolabyrinthine lesion. Magnetic resonance imaging and ...
Fukui Toshihiro T Department of Cardiovascular Surgery, Sakakibara Heart Institute, Tokyo, Japan. Electronic address: - - 2014
Type IV Ehlers-Danlos syndrome is a life-threatening inherited disorder of connective tissue associated with multiple aneurysm formation. Thoracoabdominal aortic repair in these patients has rarely been performed. We report the case of a 13-year-old patient with Ehlers-Danlos syndrome who had multiple aortic operations from the ascending aorta to the thoracoabdominal aorta.
Keppler-Noreuil Kim M KM National Human Genome Research Institute, National Institutes of Health, Bethesda, - - 2014
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine ...
Liu Jing-Yao JY Department of Neurology, The First Hospital, Jilin University, Changchun, - - 2014
Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old ...
Avila Márcio Augusto Pinto de MA Department of Obstetrics and Gynecology, Federal University of Rio de - - 2014
To determine the prevalence of metabolic syndrome (MS) and its clinical interrelations in polycystic ovary syndrome (PCOS). This was a cross-sectional, prospective study with 100 patients with diagnosed PCOS based on the consensus of Rotterdam (2003). We investigated the interrelationships of MS, with intrinsic PCOS data. Dermatological profile was analyzed, ...
Anderson Heather N HN 1 Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, United States of - - 2014
Type 1 long QT syndrome is the most common long QT syndrome genetic subtype. Exercise and emotional stress can precipitate sudden cardiac events in patients with type 1 long QT syndrome; however, the precise mechanism remains elusive. We report the case of a teenage girl with type 1 long QT ...
Mesulam M-Marsel MM From Northwestern University Medical School, Chicago, - - 2014
Hair-splitting details of syndromic classification can hardly be expected to attract much attention. As in all areas of science, however, sound nosology and uniform nomenclature are important for progress in neurology. This is particularly true for the neurodegenerative syndromes, including primary progressive aphasia (PPA), where heterogeneity of phenotype and cellular ...
Hanumanthaiah Deepak D Department of Anaesthesia and Critical care, Mid-Western Regional Hospital, Limerick, - - 2014
Suspicion of neuroleptic malignant syndrome (NMS) is a frequent cause of emergent psychiatric consultation. Despite early recognition, NMS has remained a syndrome that causes high rates of morbidity and mortality. A 25-year-old male with multiple sclerosis presented to the accident and emergency department and E with ataxia. He was started ...
Grebeldinger Slobodan P - - 2014
Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia), dermatomyositis, systemic lupus erythematosus, ad myositis ossificans ...
Heuzé Yann Y Department of Anthropology, Pennsylvania State University, University Park, - - 2014
fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. These syndromes share coronal craniosynostosis and characteristic facial skeletal features, although Apert syndrome (AS) is characterized by a more dysmorphic ...
Wang Shuzhen S Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong Province, - - 2014
Idiopathic hypereosinophilic syndrome is an uncommon leukoproliferative systemic disorder characterized by the sustained eosinophilia and target organ damage. We report the case of a 56-year-old man presenting with multiple cerebral embolism, Löffler endocarditis, and hypereosinophilia. This patient also had pleural, bone marrow, and skin involvement. The unique feature was multifocal ...
Karussis Dimitrios D Department of Neurology, Multiple Sclerosis Center and Laboratory of Neuroimmunology, The Agnes-Ginges Center for Neurogenetics, Hadassah University Hospital, Jerusalem, Ein-Kerem, Israel. Electronic address: - - 2014
Multiple sclerosis (MS), is a chronic disease of the central nervous system (CNS) characterized by loss of motor and sensory function, that results from immune-mediated inflammation, demyelination and subsequent axonal damage. MS is one of the most common causes of neurological disability in young adults. Several variants of MS (and ...
Kitley Joanna J Nuffield Department of Clinical Neurosciences, Oxford University Hospitals NHS Trust, University of Oxford, Oxford, UK. Electronic address: - - 2014
Natalizumab, an effective treatment for MS, has been shown to exacerbate neuromyelitis optica (NMO) with aquaporin-4 antibodies, but whether this is the case in antibody negative NMO and atypical MS/NMO spectrum disorder overlap syndromes is unknown. We describe a patient with a relapsing optico-spinal demyelinating syndrome, negative for aquaporin-4 antibodies, ...
Zhang Qun Q Nanjing Medical University, Nanjing, Jiangsu 210029, - - 2014
Though obstructive sleep apnea hypopnea syndrome (OSAHS) and metabolic syndrome (MS) are correlated; the contributing factors for the occurrence of MS in Chinese snorers remain largely undefined. We aimed to investigate the associated pathogenesis of coexistence of OSAHS and MS in Chinese snorers. A total of 144 Chinese habitual snorers ...
Balasubramanian Meena M Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, Yorkshire, United - - 2014
We describe two unrelated patients with molecularly confirmed Sotos syndrome with multiple subpleural blebs and pneumothorax. We propose this as a new association. Patient 1 is a 3-year-old boy with a 1.9 Mb interstitial deletion of the long arm of chromosome 5, with breakpoints at q35.2 and q35.3, encompassing NSD1 and ...
Pinal-Fernandez I I Internal Medicine Service, Hospital Vall d'Hebron, Barcelona, Spain. Electronic address: - - 2014
Eosinophilic fasciitis (EF) is a rare scleroderma-like syndrome with an unknown etiology and pathogenesis that should be considered an immune-allergic disorder. Painful swelling with progressive induration and thickening of the skin and soft tissues of the limbs and trunk is the clinical hallmark of the disease. Peripheral blood eosinophilia, hypergammaglobulinemia, ...
Piccolo Pasquale P Telethon Institute of Genetics and Medicine, Naples, - - 2014
Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming growth factor β (TGF-β) signaling are responsible for MS. We found ...
Kudo Naomi N Department of Otorhinolaryngology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, - - 2014
Multiple endocrine neoplasia (MEN) type 2 syndrome is an autosomal dominant inherited disease caused by mutations of the RET proto-oncogene, and is clinically divided into three phenotypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma. Although multiple mucosal neuromas are commonly observed in patients with MEN2B, there are only a few ...
Levy Michael M Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address: - - 2014
Neuromyelitis optica (NMO, Devic's syndrome) is a clinical syndrome characterized by optic neuritis and (mostly longitudinally extensive) myelitis. If untreated, NMO usually takes a relapsing course and often results in blindness and tetra- or paraparesis. The discovery of autoantibodies to aquaporin-4, the most abundant water channel in the CNS, in ...
Stone Matthew D MD Waters Corporation, Milford, Massachusetts, United States of America ; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota, United States of - - 2014
The objective of this discovery-level investigation was to use mass spectrometry to identify low mass compounds in bronchoalveolar lavage fluid from lung transplant recipients that associate with bronchiolitis obliterans syndrome. Bronchoalveolar lavage fluid samples from lung transplant recipients were evaluated for small molecules using ESI-TOF mass spectrometry and correlated to ...
Ratson Tal T Department of Pediatric Dentistry, The Maurice and Gabriela Goldschleger School of Dental Medicine, Faculty of Medicine, Tel Aviv University, Tel Aviv, - - 2014
Supernumerary teeth are common in the general population, with a prevalence that varies between 0.1 percent to 3.8 percent. Multiple supernumerary teeth are associated with Gardner's syndrome, Fabry-Anderson syndrome, Ehlers-Danlos syndrome, labial palatal cleft, and cleidocranial dysplasia. Multiple hyperdontia not associated with syndromes is rare and ranges between 0.04 percent ...
Lunardelli A A Rehabilitation Medicine, Ospedali Riuniti, Trieste, - - 2014
We report a case of a 47-year-old woman with 35-year history of multiple sclerosis, who showed alien hand signs, a rare behavioural disorder that involves unilateral goal-directed movements that are contrary to the individual's intention. Alien hand syndrome has been described in multiple sclerosis (MS) only occasionally and is generally ...
Zhao Linlin L Integrated Traditional Chinese and Western Medicine, Xiangya Hospital, Central south University, Changsha 410008, - - 2014
A metabonomics approach based on liquid chromatography/quadrupole time-of-flight mass spectrometry (LC-Q-TOF/MS) was utilized to obtain potential biomarkers of coronary heart disease (CHD) patients and investigate the ZHENG types differentiation in CHD patients. The plasma samples of 20 CHD patients with phlegm syndrome, 20 CHD patients with blood-stasis syndrome, and 16 ...
Bäumer Dirk D From Oxford University, John Radcliffe Hospital (D.B., R.A.L.M., K.T., M.H., M.R.T.); Milton Keynes Hospital NHS Trust (R.B.), Buckinghamshire; and Oxford University, Warneford Hospital (R.A.L.M.), - - 2013
The onset of motor symptoms in amyotrophic lateral sclerosis (ALS) is strikingly focal. In three-quarters of cases, weakness emerges unilaterally in one limb, typically spreading contiguously over months to become bilateral.(1) An extremely rare clinical syndrome of upper motor neuron-predominant, progressive hemiparesis was first described by American neurologist Charles Karsner ...
Carvalho de Vidigal Fernanda - - 2013
The metabolic syndrome (MS) is a complex of risk factors for cardiovascular disease. This syndrome increases the risk of diabetes, cardiovascular disease and all-cause mortality. It has been demonstrated that the prevalence of MS is increasing worldwide. Despite the importance of MS in the context of metabolic and cardiovascular disease, ...
Sousa Sérgio B - - 2013
Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 ...
Stewart Douglas R - - 2013
Purpose:"Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1.Methods:We performed germline NF1, SPRED1, and GNAS1 (exon ...
McNair Norma D - - 2013
Guillain-Barré syndrome (GBS) is an idiopathic postinfectious immune disease that leads to progressive motor weakness due to damage to the myelin sheath. Epidemiological studies have linked GBS to infections from Campylobacter jejuni, Cytomegalovirus, and other pathogens. The syndrome includes multiple subtypes, with the most common being ascending motor weakness. Treatment ...
Yin Yu-Zhu - - 2013
To combine multiplex ligation-dependent probe Amplification (MLPA) and bisulfite sequencing to determine DNA methylation markers for non-invasive prenatal diagnosis of Down syndrome. DNA methylation ratios (MR) of four fragments (CGI149, CGI045, HLCS-1 and HLCS-2) on chromosome 21 were evaluated in blood cells from 13 non-pregnant women, 15 euploid and 11 ...
Xu Xiu-Lian - - 2013
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disease characterized by peculiar cutaneous presentations and skeletal abnormalities. Verruciform xanthoma (VX)-like histologic changes occasionally occur in CHILD syndrome, but typical VX-like lesions coexisting with CHILD syndrome are rare. In this study we report a ...
Erfanzaki Moushira - - 2013
Apolipoprotein A5 gene (APOA5) variants are associated with increased plasma triglycerides, a risk factor for the metabolic syndrome (MS). The goal of the current study was the investigation of the distribution of T-1131C variant among obese adolescents with MS and compared with healthy controls. The study included 150 obese adolescents ...
de Carvalho Mamede - - 2013
IMPORTANCE Fasciculation potentials (FPs) may arise proximally or distally within the peripheral nervous system. We recorded FPs in the tibialis anterior using 2 concentric needle electrodes, ensuring by slight voluntary contraction and electrical nerve stimulation that each electrode recorded motor unit potentials innervated by different axons. OBSERVATIONS Time-locked FPs recorded ...
Kawano Mitsuhiro - - 2013
We describe a 62-year-old woman with Sjögren's syndrome (SS) presenting with tubulointerstitial nephritis (TIN) and lymphadenopathy mimicking IgG4-related disease (IgG4-RD). Computed tomography revealed multiple swollen lymph nodes. Biopsy of the largest lymph node showed reactive lymphadenopathy with dense IgG4 positive plasma cell (IgG4 + PC) infiltration. Renal biopsy showed chronic ...
Jennane Selim - - 2013
We report a rare case of association of two distinct hematologic malignancies: refractory cytopenia with multilineage dysplasia associated with del(5q) and symptomatic multiple myeloma associated with del(17p) and del(13q). After 16 months, the patient presented an acute leukemic transformation of the myelodysplasic syndrome.
Yu Ju Young - - 2013
Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by ...
Kakar Rohit - - 2013
A 62-year-old female presented with a linear arrangement of multiple asymptomatic, discrete, dome-shaped, smooth, skin-colored papules and nodules involving the left forehead. Histopathology showed a poorly circumscribed nodule of haphazardly arranged fascicles of smooth muscle cells involving the papillary and superficial reticular dermis. Genetic testing revealed the patient to be ...
Poliwczak A R - - 2013
It is now known that BNP and NT-proBNP levels are decreasing with increased BMI, regardless of other metabolic syndrome (MS) constituents. Additionally, testosterone deficiency may intensify frequency of ventricular rhythm disorders in obese individuals by inhibition of the parasympathetic system. Determination of heart rhythm turbulence (HRT) is a useful, noninvasive ...
Santos Angela B S - - 2013
Metabolic syndrome (MS) is associated with increased cardiovascular risk. It is not clear whether myocardial changes showed in this syndrome, such as diastolic dysfunction, are due to the systemic effects of the syndrome, or to specific myocardial effects. Compare diastolic function, biomarkers representing extracellular matrix activity (ECM), inflammation and cardiac ...
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