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Park Sun-Whan - - 2014
During 2013, severe fever with thrombocytopenia syndrome was diagnosed in 35 persons in South Korea. Environmental temperature probably affected the monthly and regional distribution of case-patients within the country. Phylogenetic analysis indicated that the isolates from Korea were closely related to isolates from China and Japan.
Ford Laura - - 2014
In Australia circa 2010, 4.1 million (90% credible interval [CrI] 2.3-6.4 million) episodes of foodborne gastroenteritis occurred, many of which might have resulted in sequelae. We estimated the number of illnesses, hospitalizations, and deaths from Guillain-Barré syndrome, hemolytic uremic syndrome, irritable bowel syndrome, and reactive arthritis that were associated with ...
Kennedy Paul J PJ Alimentary Pharmabiotic Centre, University College Cork, Cork, - - 2014
A visuospatial episodic memory impairment has recently been identified in irritable bowel syndrome. Increased tryptophan metabolism along the kynurenine pathway has also been reported in irritable bowel syndrome, which may play a role in altered cognitive performance as peripheral kynurenine can cross the blood brain barrier and lead to the ...
Ramachandran Dhanya D 0000000291767623 Department of Human Genetics, Emory University, Atlanta, Georgia, - - 2014
Purpose:The goal of this study was to identify the contribution of large copy-number variants to Down syndrome-associated atrioventricular septal defects, the risk for which in the trisomic population is 2,000-fold more as compared with that of the general disomic population.Methods:Genome-wide copy-number variant analysis was performed on 452 individuals with Down ...
Dai Yuanrong Y Department of Respiratory Medicine, The Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, China; Yuying Children' s Hospital, Wenzhou Medical University, Wenzhou, - - 2014
Paraneoplastic syndrome is a disease or symptom that is the consequence of cancer in the body but, unlike mass effect, is not due to the local presence of cancer cells. An overlap of two paraneoplastic syndromes secondary to lung cancer in a patient is very rare. We reported a case ...
Park Chuiyoung - - 2014
Hypocomplementemic urticarial vasculitis syndrome is a rare disorder characterized by chronic urticarial vasculitis, arthralgia, arthritis, and hypocomplementemia. Previously, only six patients with concomitant hypocomplementemic urticarial vasculitis syndrome, Jaccoud's arthropathy, and valvular heart disease have been reported. A 30-year-old Korean man presented with hypocomplementemic urticarial vasculitis syndrome. In addition to urticarial ...
Buchanan Gordon M GM Specialty Trainee in Obstetrics and Gynaecology, Department of Obstetrics and Gynaecology, University Hospital Crosshouse, UK - - 2014
Hyperemesis gravidarum describes persistent vomiting leading to fluid and electrolyte imbalance. It is the commonest reason for admission in the first half of pregnancy. We describe a case of Hamman syndrome secondary to hyperemesis gravidarum. We also discuss Boerhaave syndrome: a particularly rare condition with only a handful of cases ...
Thomas David M DM The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia; Research Division, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, - - 2014
Sarcomas are a rare group of mesenchymal tumors affecting a younger population. The etiology remains unknown in most cases. Environmental factors that increase sarcoma risk include radiation exposure and chemical carcinogens. Several familial cancer syndromes confer sarcoma predisposition, such as the Li-Fraumeni Syndrome (LFS). In this increasingly genomic focussed era ...
Nicholl Analise A School of Exercise and Health Science, Edith Cowan University,270 Joondalup - - 2014
Almost all previous studies examining the associations between glycaemic load (GL) and metabolic syndrome risk have used a daily GL value. The daily value does not distinguish between peaks of GL intake over the day, which may be more closely associated with the risk of the metabolic syndrome. The aim ...
Motegi Sei-Ichiro SI Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, - - 2014
Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). A 53-year-old Japanese man had a history of recurrent severe cardiovascular ...
Zama Daniele - - 2014
The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the disease, with a typical onset within the first months of life. We describe the case of a twelve-year old male ...
Bast Thomas T Epilepsy Center Kork, Kehl, - - 2014
The provision of rescue medication is an important component in the treatment of epilepsy. An intervention within five to ten minutes in the case of an acute prolonged seizure may preserve the patient from status epilepticus (SE). However, the risk of convulsive SE (CSE) differs markedly between patients depending on ...
Rosa Rafael Fabiano Machado RF Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, - - 2014
The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis. Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He ...
van Dijk Remco R Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, S1-172, University of Amsterdam, Meibergdreef 69, 1105BK, Amsterdam, The Netherlands, - - 2014
Jaundice results from the systemic accumulation of bilirubin, the final product of the catabolism of haem. Inherited liver disorders of bilirubin metabolism and transport can result in reduced hepatic uptake, conjugation or biliary secretion of bilirubin. In patients with Rotor syndrome, bilirubin (re)uptake is impaired due to the deficiency of ...
Buigues Cristina C a Department of Nursing , University of Valencia , Valencia , - - 2014
Objectives: Frailty is a geriatric syndrome characterised by the clinical presentation of identifiable physical alterations such as loss of muscle mass and strength, energy and exercise tolerance, and decreased physiological reserve. Frailty and depressive symptoms are common issues facing older adults and may be associated. It is not clear if ...
Gao Xichun X Department of Radiology, The People's Hospital of Zhangye Municipality, Zhangye, Gansu 734000, P.R. - - 2014
Vanishing lung syndrome, also known as idiopathic giant bullous emphysema, is a rare disease characterized by giant emphysematous bullae. The disease is diagnosed by radiological findings of giant bullae in one, or both, of the upper lobes of the lung, occupying at least one‑third of the hemithorax. There have been ...
Jiang Wenjian - - 2014
Cardiovascular cells derived from patient specific induced Pluripotent Stem Cell (iPSC) harbor gene mutations associated with the pathogenesis of inherited cardiac diseases and congenital heart diseases (CHD). Numerous reports have demonstrated the utilization of human induced Pluripotent Stem Cell (hiPSC) to model cardiac diseases as a means of investigating their ...
Pivetti V V Neonatal Intensive Care Unit, "V.Buzzi" Hospital, ICP, Via Castelvetro 32, Milan, - - 2014
In this case, we describe a newborn with prenatal diagnosis of congenital high airway obstruction syndrome (CHAOS), successfully managed with a caesarean section with delayed cord clamping (180"). In cases of prenatal diagnosis of CHAOS, prompt airway intervention at delivery allows survival of this otherwise fatal condition. Ex utero intrapartum ...
Kerketta J - - 2014
Idiopathic systemic capillary leak syndrome is a rare and life-threatening disorder of unknown pathology. It results from leakage of plasma from the intravascular into the interstitial space and is characterised by recurrent episodes of shock, weight gain and generalised oedema. Recurrent episodes of this syndrome are reported in a 6-year-old ...
Behere Shashank P SP Dartmouth Hitchcock Medical Center, Geisel School of Medicine, Lebanon, New Hampshire, - - 2014
The sudden death of a previously healthy young individual is a dreadful occurrence. Identifying those at risk of such a dire outcome, and appropriately managing and counseling them, has been an ongoing challenge, but rapid advances are being made. This review will focus on the long QT syndrome (LQTS), the ...
Feng Yunlin - - 2014
This is a rare instance of acute kidney injury caused by hyperuricemia due to spontaneous tumor lysis syndrome and also the first case of spontaneous tumor lysis syndrome reported in association with myelodysplastic syndrome. A 53-year-old man presented with abrupt oliguria. Laboratory findings on admission included hyperuricemia, hyperphosphatemia, hypocalcemia, metabolic ...
Alter Blanche P BP National Cancer Institute, USA - - 2014
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes. We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome with ...
Chan Chung Chi - - 2014
Red ear syndrome is a rare condition characterized by episodic attacks of erythema of the ear accompanied by burning ear pain. Symptoms are brought on by touch, exertion, heat or cold, stress, neck movements and washing or brushing of hair. Diagnosis and treatment of this condition are challenging. The case ...
Cathro H P HP Department of Pathology, University of Virginia, Charlottesville, Virginia, - - 2014
Although the majority of post-transplant lymphoproliferative disorder (PTLD) cases are associated with Epstein-Barr virus (EBV), 20-42% of cases are EBV negative (EBV-N). The antigenic stimulus that drives EBV-N PTLD is unknown, but is likely heterogeneous. A common feature of PTLD, regardless of EBV status, is an abnormal polytypic lymphoplasmacytic infiltrate. ...
Davidoss N N Department of Ear, Nose and Throat,Royal Perth Hospital,Western - - 2014
Background: Lemierre's syndrome, which affects previously healthy, young adults, is a rare complication secondary to infections in the head and neck that result in septic thrombophlebitis of the internal jugular vein. Method: This paper reports a case of a young, healthy female with malignant otitis externa, which resulted in the ...
Brand Judith M A van den JM Department of Viroscience, Erasmus Medical Center, Rotterdam, the - - 2014
Human coronaviruses (CoVs) mostly cause a common cold that is mild and self-limiting. Zoonotic transmission of CoVs like the recently identified Middle-East respiratory syndrome (MERS)-CoV and severe acute respiratory syndrome (SARS)-CoV on the other hand, may be associated with severe lower respiratory tract infection. This article reviews the clinical and ...
Ho Cindy Wei-Li CW Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, National University Health System, Singapore, - - 2014
A prolonged use of topical corticosteroids can result in Cushing syndrome, though this is less common than with oral or parenteral steroids. Most pediatric cases were due to application of topical steroids for diaper dermatitis. Adverse cardiovascular effects can occur in Cushing syndrome with significant long-term morbidity and mortality, though ...
Herwig Martina C MC a University of Bonn, Department of Ophthalmology,Division of Ophthalmic - - 2014
Abstract Objectives: We report anterior segment abnormalities in both eyes of a 33 week old fetus endorsing the diagnosis of MIDAS syndrome (acronym for microphthalmia, dermal aplasia, and sclerocornea). Methods: After abortion the fetus was examined by a standard pediatric autopsy including macroscopic and microscopic examination of both eyes. Principal ...
Rudnicka Lidia L Department of Dermatology, Medical University of Warsaw, Warsaw, Poland; Department of Neuropeptides, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, - - 2014
Satoyoshi syndrome is a multisystem disorder of suspected autoimmune etiology, characterized predominantly by alopecia, muscle spasms and diarrhea. Antinuclear antibodies are present in 60% of patients. The syndrome primarily affects girls and young women. Trichoscopy shows regularly distributed yellow dots, indistinguishable from typical alopecia areata. The condition may be easily ...
Tachdjian Raffi R Division of Allergy and Clinical Immunology, UCLA School of Medicine, 1301 20th Street, Suite 220, Santa Monica, CA, 90404, USA, - - 2014
Good's syndrome is a relatively rare immunodeficiency condition that presents in the fourth or fifth decade of life and is defined by hypogammaglobulinemia in the setting of a thymoma. The humoral defect may be severe enough to cause an absence in B cells, with a consequent recurrence of sinopulmonary disease, ...
Theodoulou Elisavet E Department of Neurosurgery, The Walton Centre NHS Foundation Trust, Lower Lane, Liverpool L9 7LJ, - - 2014
Sotos syndrome is a rare overgrowth syndrome with an increased risk of tumorigenesis. To our knowledge we report the first case of astrocytoma in an adult patient with Sotos syndrome and describe the clinical course.
Thunstrom Sofia S Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, - - 2014
Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860). Common clinical features in these patients include moderate to severe ...
Manara R R Neuroradiology, Dept. of Medicine and Surgery, University of Salerno, Italy; IRCCS S. Camillo, Venezia, Italy. Electronic address: - - 2014
Among male patients affected by Kallmann syndrome, a genetically determined disease due to defective neural migration leading to hypogonadropic hypogonadism and hypo/anosmia, about 40% present the peculiar phenomenon of mirror movements, i.e. involuntary movements mirroring contralateral voluntary hand movements. Several pathogenic hypotheses have been proposed, but the ultimate neurological mechanisms ...
Chetaille Philippe P Department of Pediatrics, Centre Mère Enfants Soleil, Centre Hospitalier de l'Université (CHU) de Québec, Quebec City, Quebec, - - 2014
The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, ...
Drakes Shane S Department of Physical Medicine and Rehabilitation, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, - - 2014
Subcoracoid impingement syndrome with bursitis is an under recognized cause of anterior shoulder pain. It usually presents with pain around the coracoid process and a positive impingement test with shoulder adduction, forward flexion and internal rotation. The pain is mediated by impingement of soft tissues such as the subcoracoid bursa ...
Nabekura Takashi T Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan. Electronic address: - - 2014
Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensorineural hearing loss. It is included among four overlapping syndromes, the others being May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. It is now established that all four disorders are caused by mutations in the MYH9 ...
Literak Ivan I University of Veterinary and Pharmaceutical Sciences Brno, University of Veterinary and Pharmaceutical Sciences - - 2014
Abstract Focusing upon chewing lice parasitizing blackcaps in the Azores (Portugal), we found a lower number of louse species in the Azores compared to mainland Europe. Only chewing lice host-specific to blackcaps were found in the Azores. Louse prevalences were much higher in blackcaps from the Azores compared to those ...
Kaphan Elsa E Service de Neurologie, Pôle de Neurosciences cliniques, AP-HM Timone, Marseille 13005, France - - 2014
Very few data are available on the long-term changes in the cognitive abilities of patients with loss of psychic self-activation syndrome (LPSAS). Here, we present a 25-year follow-up study on a case of LPSAS resulting from bilateral pallidal lesions caused by carbon monoxide intoxication. Typical signs of LPSAS were observed, ...
Sforza Chiarella - - 2014
Objective :  To provide quantitative information about the facial soft tissue of Italian and Northern Sudanese subjects with Down syndrome by using summary anthropometric measurements. Design, Setting, and Patients :  The three-dimensional coordinates of soft tissue facial landmarks were obtained using a computerized digitizer in 54 Italian subjects with Down ...
Kimura Masato M Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryocho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan, - - 2014
Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this ...
Dogruk Kacar Seval S Departamento de Dermatología y Venereología, Facultad de Medicina, Afyon Kocatepe University, Afyonkarahisar, - - 2014
Turner syndrome is a genetic disorder characterized by abnormalities of the X chromosome. An association with many autoimmune diseases is described as well as skin diseases such as psoriasis, vitiligo and alopecia areata. Trachyonychia is characterized by irregular opaque appearance on the nail plate of all 20 nails. It may ...
DU Xue X Department of Obstetrics and Gynecology, General Hospital, Tianjin Medical University, Tianjin 300052, P.R. - - 2014
Sex reversal syndrome is a rare congenital condition of complete or disordered gonadal development leading to discordance between the genetic, gonadal and phenotypic sexes, including 46,XX and 46,XY. The gonadoblastoma on the Y-chromosome (GBY) region is associated with an increased risk of developing type II germ cell tumors/cancer. The present ...
Saleh Caroline M G CM Department of Gastroenterology and Hepatology, Academic Medical Center Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The - - 2014
Rumination is a phenomenon characterized by retrograde flow of gastric contents into the mouth, otherwise known as regurgitation. Repetitive excessive occurrence of rumination is considered pathologic and is known as the rumination syndrome. Belching occurs occasionally in everyone and is often not related to a disease or a pathologic condition. ...
Dhar Reema Sharma - - 2014
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with ...
Gogna Apoorva A 1 All authors: Department of Diagnostic Radiology, Singapore General Hospital, Outram Rd, 169608, - - 2014
OBJECTIVE. Severe acute respiratory syndrome (SARS) was a highly virulent atypical pneumonia caused by a novel coronavirus that resulted in a pandemic in 2003. Singapore was one of the most severely affected countries, and SARS took a heavy toll on our health care system. The lessons learned during the pandemic ...
Safrano Lucile L Regional Pharmacovigilance Center, Pharmacology-Toxicology DepartmentAngers University Hospital, Angers, - - 2014
We describe a DRESS syndrome induced by fenofibrate. This side effect, rarely described with fenofibrate, should be known by clinicians to stop it immediately and avoid serious complications.
Alsolami Sana S Department of Laboratory Medicine and Pathobiology (S.A.), Sunnybrook Health Sciences Centre Department of Pediatric Laboratory Medicine (C.C.), The Hospital For Sick Children Department of Laboratory Medicine and Pathobiology (A.M.M., B.A.C.), University Health Network, University of Toronto, Toronto, ON Department of Pathology (S.K., C.B.G.), University of British Columbia, Vancouver, BC, Canada Dammam Regional Laboratory (S.A.), Ministry of Health, Dammam, Saudi Arabia Department of Histopathology (M.E.B.), Imperial College, Hammersmith Hospital, London Molecular and Population Genetics Laboratory (I.P.T.), Wellcome Trust Centre for Human Genetics Oxford Biomedical Research Centre (I.P.T.), Wellcome Trust Centre for Human Genetics Henry Wellcome Building for Molecular Physiology (P.J.P.), University of Oxford, Oxford Department of Pathology (W.G.M.), Royal Group of Hospitals Trust, Northern Ireland, UK Department of Pathology and Microbiology (N.A.), Jordan University of Science and Technology, Ar Ramtha, Jordan Department of Pathology (T.B.P.), B.P.Koirala Memorial Cancer Hospital, Chitwan, - - 2014
The contemporary oncologic pathology report conveys diagnostic, prognostic, predictive, and hereditary predisposition information. Each component may be premised on a morphologic feature or a biomarker. Clinical validity and reproducibility are paramount as is standardization of reporting and clinical response to ensure individualization of patient care. Regarding hereditary predisposition, morphology-based genetic ...
Paumard-Hernández Beatriz B Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, - - 2014
Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures are affected. Clinical assignment is a difficult challenge due to the high phenotypic variability observed between syndromes. During routine diagnostics, we screened 182 Spanish craniosynostosis ...
Bjornsson Hans T HT McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. - - 2014
Kabuki syndrome is caused by haploinsufficiency for either of two genes that promote the opening of chromatin. If an imbalance between open and closed chromatin is central to the pathogenesis of Kabuki syndrome, agents that promote chromatin opening might have therapeutic potential. We have characterized a mouse model of Kabuki ...
John Simon W M SW *The Howard Hughes Medical Institute †The Jackson Laboratory, Bar Harbor, ME ‡Department of Ophthalmology, Tufts University School of Medicine, Boston, MA Departments of §Ophthalmology and Visual Sciences ∥Molecular Physiology and Biophysics, University of Iowa ¶Center for the Prevention and Treatment of Visual Loss, Iowa City VA Health Care System, Iowa City, - - 2014
At present, no animal models fully embody exfoliation syndrome or exfoliation glaucoma. Both genetic and environmental factors appear critical for disease manifestation, and both must be considered when generating animal models. Because mice provide a powerful mammalian platform for modeling complex disease, this paper focuses on mouse models of exfoliation ...
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