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Camilleri Michael - - 2012
The present review describes advances in understanding the mechanisms and provide an update of present and promising therapy directed at the gut or the brain in the treatment of irritable bowel syndrome (IBS). The diagnosis of IBS typically is based on identification of symptoms, such as the Rome III criteria ...
Gripp Karen W - - 2012
Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. Although the diagnosis can be suspected clinically, confirmation requires identification of a heterozygous mutation in the proto-oncogene HRAS. In contrast to somatic oncogenic mutations in neoplasia, the Costello syndrome ...
Siegel D H DH Department of Dermatology and Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road TBRC, 2nd Floor, Suite C2010, Milwaukee, WI 53226, USA. - - 2012
The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. To quantify the specific cutaneous ...
Li Yuan Y - - 2012
Down's syndrome, a congenital disorder associated with cognitive impairment and early-onset Alzheimer's disease, is a progressive genetic pathology resulting from full or partial triplication of chromosome 21. Down's syndrome brain is typified by activated microglia, increases in inflammatory signaling, and an aberrant immune system. In these studies, a screening of ...
Bonnet Crystel - - 2012
Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies. Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells ...
Van Loon Katherine - - 2012
We report the case of a patient with myelodysplasia who had Sweet syndrome of the oral cavity. An atypical myeloid immunophenotype was present in the gingival biopsy specimen and in a concurrent bone marrow specimen. Fluorescence in situ hybridization performed on the gingival biopsy specimen demonstrated the same del(20q) cytogenetic ...
Ghaffari Neda - - 2012
: Neuroleptic malignant syndrome (NMS) is characterized by a tetrad of mental status changes, extrapyramidal symptoms, hyperpyrexia, and autonomic instability and can develop after the use of antipsychotics. : A young, multiparous woman presented at 26 weeks of gestation with acute psychosis and was treated with haloperidol until she developed ...
Chu Linda C - - 2012
Patients with vascular Ehlers-Danlos syndrome are predisposed to premature vascular complications. The objective of this article is to review the CT findings and current thoughts about the management of vascular pathologic abnormalities and diseases in patients with Ehlers-Danlos syndrome. The manifestation of vascular Ehlers-Danlos syndrome frequently involves multiple vascular segments, ...
Garcovich Simone - - 2012
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome defines an association of inflammatory cutaneous disorders with osteoarticular manifestations and represents a clinical and therapeutic challenge. We report a case of severe SAPHO syndrome with acne conglobata and a diffuse involvement of the anterior chest wall and sacroiliac joints that required ...
Teachey David T - - 2012
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of disrupted lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include lymphadenopathy, splenomegaly, and autoimmune cytopenias. A number of new insights have improved the understanding of the genetics and biology of ALPS. These will be discussed in this review. ...
Lee Byung Ha - - 2012
The mouse model is the one of the most frequently used and well-established animal models, and is currently used in many research areas. To date, various mouse models have been utilized to elucidate underlying causes of multifactorial autoimmune conditions, including pathological immune components and specific signaling pathways. This review summarizes ...
Crutch Sebastian J SJ Dementia Research Centre, Institute of Neurology, University College London, London, UK. - - 2012
Posterior cortical atrophy (PCA) is a neurodegenerative syndrome that is characterised by progressive decline in visuospatial, visuoperceptual, literacy, and praxic skills. The progressive neurodegeneration affecting parietal, occipital, and occipitotemporal cortices that underlies PCA is attributable to Alzheimer's disease in most patients. However, alternative underlying causes, including dementia with Lewy bodies, ...
Kaeser Pierre-François - - 2012
Purpose:  To elucidate the aetiology of congenital Brown syndrome. Methods:  Four consecutive patients diagnosed with unilateral congenital Brown syndrome had a comprehensive standardized ocular motility examination. Any compensatory head posture was measured. Brain magnetic resonance imaging (MRI) with regard for the IV cranial nerve (CN) was performed in all patients. ...
Pouliquen D - - 2012
The Floating Harbor syndrome is a rare genetic disease characterized by a triad of clinical signs: specific dysmorphic facial features, short stature with delayed bone age, and language and speech disorders. These signs are, in most cases, associated with borderline normal intelligence to moderate delay concerning intellectual functioning. We report ...
Sowerwine Kathryn J KJ Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, - - 2012
Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also ...
Necchi Vittorio - - 2012
Shwachman-Diamond syndrome is an autosomal recessive disorder in which severe bone marrow dysfunction causes neutropenia and an increased risk of leukemia. Recently, novel particulate cytoplasmic structures, rich in ubiquitinated and proteasomal proteins, have been detected in epithelial cells and neutrophils from patients with Helicobacter pylori gastritis and several epithelial neoplasms. ...
Ronesi Jennifer A - - 2012
Enhanced metabotropic glutamate receptor subunit 5 (mGluR5) function is causally associated with the pathophysiology of fragile X syndrome, a leading inherited cause of intellectual disability and autism. Here we provide evidence that altered mGluR5-Homer scaffolds contribute to mGluR5 dysfunction and phenotypes in the fragile X syndrome mouse model, Fmr1 knockout ...
Matousovic Karel - - 2012
A 47-year-old man was admitted to hospital for migratory joint pain, fatigue, and cough with bloody sputum and proteinuria with increased serum creatinine level. Diagnosis of Wegener's granulomatosis was established. During follow-up, the vena cava superior syndrome developed. The patient died of respiratory failure after 12 years of follow-up. The ...
Kumar Asheesh - - 2012
PURPOSE: Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a severe multi-system reaction defined by fever, rash, eosinophilia, and internal organ involvement. The condition typically occurs one to eight weeks following exposure to inciting medications. In severe cases, it can develop into multi-organ system failure and death. We ...
Lee Joyce J - - 2012
Mitochondrial cytopathies are a diverse group of disorders characterized by impaired mitochondrial energy production. Disease manifestations are protean and may include seemingly disparate findings. Here we report a 5-year-old girl with the uncommon pairing of bilateral corneal dystrophy requiring corneal transplantation and severe Fanconi syndrome recalcitrant to oral bicarbonate therapy ...
Hirose Misaki - - 2012
A 50-year-old woman with a 1-month history of lower extremity edema and a 5 kg weight increase was admitted to our hospital with suspected nephrotic syndrome in October 1999. Urine protein level was 3.5 g per day, 10-15 erythrocytes in urine per high-power field, and serum albumin level 2.5 g/dl. Furthermore, an ...
Lange Jessica N - - 2012
PURPOSE OF REVIEW: This review describes the relationship between nephrolithiasis, vascular disease and metabolic syndrome. RECENT FINDINGS: There is increasing evidence that kidney stone formation is associated with a number of systemic problems including cardiovascular disease, metabolic syndrome and its components. Some of these associations are bidirectional. The reasons for ...
Shuman Andrew G - - 2012
Superior semicircular canal dehiscence (SSCD) syndrome has been called the great otologic mimicker because its presentation overlaps with otosclerosis, Meniere's disease, perilymphatic fistula, and patulous eustachian tube. A valuable examination finding that can help distinguish SSCD syndrome from other pathologic conditions is the presence of Hennebert's sign, in which pressure ...
Ozkok Abdullah - - 2012
Abstract Reversible posterior leukoencephalopathy syndrome (RPLS) is characterized by headache, altered consciousness, seizures, and cortical blindness. The most frequent etiological factors are hypertension, kidney diseases, and immunosuppressive drugs such as steroids and cyclophosphamide. Herein we present a case of a 22-year-old female patient presented with alveolar hemorrhage and acute renal ...
Evcimik Muhammed Fatih - - 2012
In Marfan's syndrome, which is a connective tissue disorder of hereditary origin, collagenous tissue development and bone synthesis are generally altered in addition to the occurrence of many systemic deformities. External ear, stapes, and vestibular aqueduct pathologies are reported as some of the otological deformities. However, the malleus and incus ...
Meiners P M - - 2012
OBJECTIVE: To evaluate the responsiveness of the EULAR Sjögren's Syndrome Patient Reported Index (ESSPRI) and EULAR Sjögren's Syndrome Disease Activity Index (ESSDAI) in patients with primary Sjögren's syndrome (pSS) treated with rituximab.METHODS: Twenty-eight patients with pSS treated with rituximab (1000 mg) infusions on days 1 and 15 were included in ...
Kajikawa Marcio Masashi - - 2012
INTRODUCTION AND HYPOTHESIS: The purpose of this study was to evaluate the expression of estrogen receptor alpha (ERα) on the neovaginal tissue of patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome submitted to modified Abbé-McIndoe neovaginoplasty using oxidized regenerated cellulose. METHODS: The current study involved eight subjects with MRKH syndrome. Serial samples of ...
Kanzawa Noriyuki - - 2012
Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion of diacyl PI to 1-alkyl-2-acyl PI occurs in the ER at the third ...
Philips S - - 2012
Pancreatic endocrine neoplasms are rare pancreatic tumours that may occur sporadically or as part of inherited syndromes such as multiple endocrine neoplasia-1 syndrome, von Recklinghausen disease, von Hippel-Lindau syndrome and tuberous sclerosis complex. Recent advances in the genetics and pathology of hereditary syndromes have provided valuable insights into the pathophysiology ...
Lam Pui Kin - - 2012
Introduction: Non-prescription slimming products are popular and can be easily purchased from the Internet. However, adulteration of these products with undeclared substances including prescription drugs is not uncommon. We report a case of serotonin syndrome after an overdose of a non-prescription product containing sibutramine. Case report: A 21-year-old woman presented ...
Bettney Laura - - 2012
OBJECTIVES: Previous studies have identified sub-syndromes of behavioral and psychological symptoms of dementia. But because of their cross-sectional design, the stability of these sub-syndromes over time remains unknown. METHOD: Behavioral and psychological symptoms of dementia of 84 participants (out of an original sample of 144 patients) with Alzheimer's disease and ...
Tas Dıdem Arslan - - 2012
Hyperimmunoglobulin D syndrome (HIDS) is one of the autoinflammatory syndromes which are characterized by febrile attacks. Duration and frequency of the febrile attacks, as well as typical organ involvements vary greatly. Recently, it is possible to reach more reliable data by the possibilities that are opened up by molecular genetics ...
Sih Andrew - - 2012
Ecology Letters (2012) ABSTRACT: Interspecific trait variation has long served as a conceptual foundation for our understanding of ecological patterns and dynamics. In particular, ecologists recognise the important role that animal behaviour plays in shaping ecological processes. An emerging area of interest in animal behaviour, the study of behavioural syndromes ...
Knipstein Jeffrey A - - 2012
Sweet syndrome is characterized by painful, erythematous cutaneous lesions containing neutrophilic infiltrates. Although more commonly seen in adults, Sweet syndrome has also been recognized in several pediatric cases. Two previous cases of pediatric Sweet syndrome and 1 adult case have been described in chronic granulomatous disease (CGD) patients. We report ...
Sadek Ahmed-Ramadan - - 2012
Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic clinico-radiological diagnosis typically presenting with headache, encephalopathy and visual disturbance accompanied by a unique neuroradiological pattern of symmetrical parieto-occipital vasogenic oedema. Here we present the case of a 51-year-old woman who presented to hospital following a thunderclap headache, initially thought to be ...
Binder Vera - - 2012
Because of the diversity of clinical symptoms, the diagnosis of mitochondrial DNA (mtDNA) deletion disorders can be difficult. Here, we describe an 8-month-old boy presenting clinically exclusively with refractory anemia. Mutation analysis in our patient revealed a large, novel deletion in his mtDNA encompassing ATPase 6, cytochrome oxidase subunit III, ...
Dimario Francis J - - 2012
This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval, hospitalized patients with Guillain-Barré ...
Jun Hyun Sik - - 2012
Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency, also known as severe congenital neutropenia syndrome 4, is characterized not only by neutropenia but also by impaired neutrophil energy homeostasis and functionality. We now show the syndrome is also associated with macrophage dysfunction, with murine G6pc3(-/-) macrophages having impairments in their respiratory burst, chemotaxis, ...
Yilmaz E E Department of Oral Diagnosis and Radiology, Faculty of Dentistry, Hacettepe University, Ankara, - - 2013
Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral ...
Hansen Jan H - - 2012
OBJECTIVE: The Norwood procedure, the first surgical step of staged palliation for hypoplastic left heart syndrome, is also applied for other complex single-ventricle lesions with systemic outflow tract obstruction or aortic arch hypoplasia. We reviewed our 15-year institutional experience with the Norwood procedure for patients with and without hypoplastic left ...
Koivumäki A - - 2012
Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal ...
Patra Surajeet K - - 2012
BACKGROUND: The cachexia anorexia syndrome is a complex metabolic syndrome associated with cancer and some other palliative conditions characterized by involuntary weight loss involving fat and muscle, weight loss, anorexia, early satiety, fatigue, weakness due to shifts in metabolism caused by tumour by-products and cytokines. Various neuropeptides like Leptin, neuropeptide ...
Alfaro T M - - 2012
Churg-Strauss syndrome (CSS) is a systemic necrotizing vasculitis of the small and medium vessels, associated with extravascular eosinophilic granulomas, peripheral eosinophilia and asthma. This is a rare syndrome of unknown etiology, affecting both genders and all age groups. CSS patients usually respond well to steroid treatment, although relapses are common ...
Kitamura Yuka - - 2012
We report a case of sepsis caused by Rhodococcus corynebacterioides, identified using 16S rRNA gene sequencing, in a myelodysplastic syndrome patient who had undergone hematopoietic stem cell transplantation. This is the first report of R. corynebacterioides infection in a human.
de Jong Tim - - 2012
We conducted this study to gauge the health-related problems, quality of life and the performance of the Health Utility Index Mark 3 (HUI-3) in patients with syndromic and complex craniosynostosis. Patients with syndromic and complex craniosynostosis have various physical and mental problems. More insight on these problems, per syndrome, could ...
Davison J E - - 2012
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual ...
McDonnell A M - - 2012
Methylene blue has been used not only as a diagnostic agent, but also as an agent in the treatment of ifosfamide-induced encephalopathy (IIE) for several years. Recently, several cases of suspected serotonin syndrome have been reported in patients who received methylene blue in combination with serotonin active agents. Rodent models ...
Diamanti-Kandarakis Evanthia - - 2012
Polycystic ovary syndrome (PCOS) is a complex syndrome of unclear etiopathogenesis characterized by heterogeneity in phenotypic manifestations. The clinical phenotype of PCOS includes reproductive and hormonal aberrations, namely anovulation and hyperandrogenism, which coexist with metabolic disturbances. Reflecting the crosstalk between the reproductive system and metabolic tissues, obesity not only deteriorates ...
Quinn Malgorzata E - - 2012
Limb anomalies are important birth defects that are incompletely understood genetically and mechanistically. GLI3, a mediator of hedgehog signaling, is a genetic cause of limb malformations including pre- and postaxial polydactyly, Pallister-Hall syndrome and Greig cephalopolysyndactyly. A closely related Gli (glioma-associated oncogene homolog)-superfamily member, ZIC3, causes X-linked heterotaxy syndrome in ...
Banaszak Beata - - 2012
Recently, a number of reports have highlighted changes in the histopathology and response to corticosteroid treatment in childhood nephrotic syndrome; however, these involved ethnically mixed populations. For comparison, the purpose of our research was to search for changes in the characteristics of nephrotic syndrome in a homogeneous population of Caucasian ...
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