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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 ...
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, ...
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 ...
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 ...
Yadav Savita - - 2013
Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired ...
Matas Sandro Luiz de Andrade - - 2013
The central nervous system demyelinating diseases are a group of disorders with different etiologies, characterized by inflammatory lesions that are associated with loss of myelin and eventually axonal damage. In this group the most studied ones are multiple sclerosis (MS), neuromyelitis optic (NMO) and acute disseminated encephalomyelitis (ADEM). The cerebrospinal ...
da Cruz Larissa Leandro - - 2013
Background: Metabolic syndrome (MS) is suggested to be associated with a low grade inflammation state, but the relationship between inflammation biomarkers and the components of metabolic syndrome in adolescents are still lacking. Objective: To investigate the association between Creactive protein (CRP) serum concentrations and metabolic syndrome components in adolescents. Methods: ...
Iuppa Courtney A - - 2013
To report a case of risperidone-induced Pisa syndrome in a patient with multiple sclerosis (MS) that resolved with lurasidone, recurred with chlorpromazine, and was complicated by possible drug-drug interactions. A 31-year-old white male with MS developed Pisa syndrome after years of treatment with risperidone at varying doses for behavioral symptoms ...
Nur Banu Güzel BG Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey. - - 2013
Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures. In this report, we present an 11-year-old boy who had the classical findings of multiple pterygium syndrome, and his chromosomal analysis revealed a 47,XXY karyotype. Interestingly, he ...
Kargahi N N Dept. of Oral and Maxillofacial Pathology and Torabinejad Research Center, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, - - 2013
Odontogenic keratocyst (OKC) is a common developmental odontogenic cyst affecting the maxillofacial region. Multiple OKCs are usually seen in association with nevoid basal cell carcinoma syndrome (NBCCS) but approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This report represents a case of multiple OKCs in ...
Kleiter Ingo - - 2013
Introduction: Peripheral nerve entrapment syndromes are associated with hereditary neuropathy with liability to pressure palsies and a variety of rheumatic and endocrinological diseases. Methods: Case report of a patient with entrapment syndromes of multiple nerves associated with chronic graft-versus-host-disease (GVHD) after allogeneic hematopoietic stem cell transplantation. Nerve ultrasound, histology, and ...
Gabelic T - - 2013
BACKGROUND AND PURPOSE:The exact prevalence of WM signal abnormalities in healthy relatives of MS patients and their impact on disease development has not been fully elucidated. The purpose of this study was to compare WM signal abnormality characteristics and the prevalence of radiologically isolated syndrome in healthy control subjects selected ...
Zhang J - - 2013
A presentation of postpartum polydipsia and polyuria followed by periodic weakness led to the diagnosis of nephrogenic diabetes insipidus and hypokalaemic paralysis, both of which are complications of primary Sjögren's syndrome (pSS). The clinically dominant pSS was taken to coexist with long-latent systemic lupus erythematosus and asymptomatic autoimmune thyroid disease. ...
Kim Yong Woo - - 2013
A 40-year-old woman presented with horizontal diplopia and right proptosis for 1 month. She had esotropia and right abducens nerve palsy. Pupils were small and equal and there was no relative afferent pupillary defect. A cutaneous capillary malformation, hypertrophy of bone and soft tissue, and varicose veins on lower extremities ...
Sleiman Rima - - 2013
Although traditionally known as "white forelock," poliosis circumscripta, defined as a localized patch of white hair in a group of hair follicles, can involve any hairy area on the body including the scalp, eyebrows, and eyelashes. Microscopically, poliosis demonstrates either decreased or absent melanin and/or melanocytes in the hair bulbs ...
Bobin-Dubigeon Christine - - 2013
Our goal was to establish if paraoxonase (PON1) activity relates to the presence of a metabolic syndrome (MS) and inflammation in HIV patients treated with highly active antiretroviral therapy (HAART). This was a prospective, multicenter study including 269 patients receiving HAART since at least one year and a maximum of ...
Costa Aline Garcia Figueiredo - - 2013
Gardner's syndrome, an autosomal dominant syndrome, is linked to familial adenomatosis polyposis (FAP), which is known mainly as a colorectal disease. FAP also presents extracolonically as intestinal polyposis, multiple osteomas, cutaneous cysts, or fibromas. This article reports the case of a 66-year-old white woman who was referred to the Oral ...
Lee Beom Hee - - 2013
Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wiedemann syndrome (BWS) and the Silver-Russell syndrome (SRS). In this ...
Lee Misu - - 2013
Multiple endocrine neoplasias (MEN) are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Until recently two MEN syndromes were known, i.e. the MEN type 1 (MEN1) and type 2 (MEN2), which are caused by germline mutations in the MEN1 and RET genes, respectively. ...
Santaniemi Merja - - 2013
Highly prevalent metabolic syndrome (MS) is a major public health problem worldwide. Insulin resistance and central obesity are postulated to be the key components of this metabolic syndrome, and inflammation also plays a role in cardiovascular events. In previous years, many definitions of metabolic syndrome have emerged. The value of ...
Kim Susan S - - 2013
BACKGROUND: Magnetic resonance imaging (MRI) criteria play an important role in making an earlier diagnosis of multiple sclerosis (MS) in patients presenting with clinically isolated syndrome. OBJECTIVE: The objective of this paper is to determine whether MRI criteria may be used to distinguish MS from primary and secondary central nervous ...
Magro Checa César - - 2013
Among the 12 systemic lupus erythematosus (SLE)-related central nervous system (CNS) syndromes defined by the American College of Rheumatology (ACR), demyelinating syndrome and myelopathy are two of the less prevalent and more poorly understood ones. One important issue concerning demyelinating disease in SLE is that it can be easily misdiagnosed ...
Zhao Yan G - - 2013
Autophagy activity is essential for the survival of neural cells. Impairment of autophagy has been implicated in the pathogenesis of neurodegenerative disorders. Unlike the massive neuron loss in mice deficient for autophagy genes essential for autophagosome formation, we demonstrated that mice deficient for the metazoan-specific autophagy gene Epg5 develop selective ...
Tozzoli Renato - - 2013
In the last 15 years, the estimated prevalence of autoimmune diseases increased from about 4 to 9.4 %. Autoimmune co-morbidity (i.e., the association between two or more autoimmune diseases in the same patient) is present in 0.4-0.5 % of the worldwide population, more frequently in patients with multiple sclerosis, rheumatoid arthritis, autoimmune thyroid ...
Gundogan Kursat - - 2013
The aim of this study is to investigate the prevalence of metabolic syndrome (MS) and its components according to Adult Treatment Panel III (ATP III) and International Diabetes Federation (IDF) criteria and the risk factors affecting MS. Metabolic syndrome prevalence was evaluated according to certain quintet age groups, altitude, location ...
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