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Wimmer Katharina K Division of Human Genetics, Medical University Innsbruck, Innsbruck, - - 2014
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain and intestinal tract tumours. Patients show a variety of ...
Babusiaux D D CHRU, Hôpital Trousseau, Chirurgie Orthopédique et Traumatologique 1, 37044 Tours cedex 1, - - 2014
Electroneuromyography (ENMG) is the gold standard examination in cubital tunnel syndrome (CuTS), but sheds no light on etiology. High-resolution ultrasound (HRU) analyzes the anatomic abnormalities and physical properties of the ulnar nerve (UN) and enables dynamic study. The present non-randomized prospective study compared HRU with clinical, ENMG and intraoperative findings. ...
Saft Leonie L Stockholm, - - 2014
International Prognostic Scoring System-defined Low- or Intermediate-1-risk (lower-risk) del(5q) myelodysplastic syndromes are considered to have an indolent course; however, recent data have identified a subgroup of patients with more aggressive disease and poorer outcomes. Using deep sequencing technology, we previously demonstrated that 18% of patients with lower-risk del(5q) myelodysplastic syndromes ...
Roberts Maegan E ME Genetic Counseling, GeneDx, Gaithersburg, Maryland, - - 2014
Purpose:The Muir-Torre syndrome variant of Lynch syndrome is characterized by the presence of sebaceous neoplasms (adenoma, epithelioma/sebaceoma, carcinoma) and Lynch syndrome-associated cancers (colon, endometrial, and others). Several clinical scoring systems have been developed to identify patients with colon cancer at high risk of Lynch syndrome. However, no such system has ...
Kokubo Kenichi K Department of Ocular Plastic & Orbital Surgery, Seirei Hamamatsu General Hospital, Hamamatsu, Japan. Electronic address: - - 2014
To describe surgical treatment of acquired Brown syndrome by trochlea reconstruction and trochlea adhesiotomy. The medical records of patients with acquired Brown syndrome who underwent intraoperative forced duction testing under direct view of the trochlea from 2010 to 2012 were retrospectively reviewed. In all cases, the site of restricted movement ...
Segarra Alfons - - 2014
Introduction: Recent studies suggest that soluble urokinase-type plasminogen activator receptor (suPAR) levels could be useful for distinguishing idiopathic focal segmental glomerulosclerosis (FSGS) from other glomerulopathies that cause nephrotic syndrome, but these data have not been confirmed in independent studies. The objective of our study is to analyse whether circulating levels ...
Rogers Heesun J HJ - - 2014
Acute myeloid leukemia and myelodysplastic syndrome with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) have a poor prognosis. Indeed, the inv(3)(q21q26.2)/t(3;3)(q21;q26.2) has been recognized as a poor risk karyotype in the revised International Prognostic Scoring System. However, inv(3)(q21q26.2)/t(3;3)(q21;q26.2) is not among the cytogenetic abnormalities pathognomonic for diagnosis of acute myeloid leukemia irrespective of blast percentage in ...
Zhou Yong Y Department of Gynecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, PR - - 2014
Herlyn-Werner-Wunderlich syndrome (HWWS) is a müllerian duct anomaly typically associated with a uterus didelphys with two cervices and two vaginas, one of which is obstructed. A remarkable case of HWWS with contralateral duplex kidneys and duplication of ureters is described, which, to our knowledge, is a rarely reported variant to ...
Samoff Erika E North Carolina Preparedness and Emergency Response Research Center (Drs Waller and Samoff, Ms Fangman), NC Institute for Public Health, Gillings School of Global Public Health, University of North Carolina, Chapel Hill (Dr Samoff and Ms Fangman); and Carolina Center for Health Informatics, Department of Emergency Medicine, University of North Carolina Medical School (Drs Waller and - - 2014
Syndromic surveillance systems enhance public health practice in both large and small population settings. However, data from these systems are typically monitored by state and federal agencies and less frequently used by small public health agencies, such as local health departments (LHDs). Syndromic surveillance system modifications may facilitate use by ...
Caccamo Roberta - - 2014
Forty dogs presented for brachycephalic airway obstructive syndrome with laryngeal collapse not over 1st degree (saccule eversion) underwent glottis endoscopic and radiographic skull measurements before surgery. Fifteen Pugs, fifteen French and ten English Bulldogs were included. The goals were prospectively to compare three common brachycephalic breeds for anatomical differences regarding ...
Katsuyama Takayuki T Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, - - 2014
A 71-year-old woman presented with a high-grade fever, neck pain, anemia and thrombocytopenia. After performing further examinations, we concluded that she had simultaneously developed large vessel vasculitis and myelodysplastic syndrome (MDS). Although glucocorticoid administration improved her clinical symptoms, the MDS transformed into acute myeloid leukemia and she died one year ...
Sadiq Mahniya F MF Department of Radiology and Imaging Sciences, Emory University Hospital, Atlanta, GA, - - 2014
Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. ...
Goasguen Jean E JE University of Rennes, France. Electronic address: - - 2013
Studies of morphology of myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) refer to the definitions produced by the French-American-British (FAB) group and by the World Health Organization expert group. To clarify some points regarding the dysgranulopoiesis that are still unclear we analyzed a series of 98 neutrophils from MDS ...
Rubio-Gomez Gustavo A GA Section of Dermatology, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, - - 2013
Collodion membrane in the neonate may be the initial presentation of a number of different conditions. There is a lack of data correlating the extent of clinical involvement to the underlying disease and prognosis. We sought to identify features predictive of the final outcome and complications in a cohort of ...
Peñacoba Toribio Patricia - - 2013
Shrinking lung syndrome (SLS) is a rare manifestation of systemic lupus erythematosus. We report the case of a patient with non-responding SLS (neither to glucocorticoids nor immunosupresors), who showed remarkable improvement after the onset of treatment with rituximab. Although there is a little evidence, treatment with rituximab could be proposed ...
Cheng Julianna J From the *University of British Columbia; †Division of Gastroenterology, Hepatology and Nutrition; ‡Department of Pediatrics; and §Division of Infectious Diseases, British Columbia Children's Hospital, Vancouver, British Columbia, - - 2013
Drug reaction with eosinophilia and systemic symptoms is a potentially life-threatening syndrome of medication hypersensitivity associated with a wide variety of triggers. Diagnosis can be challenging, as clinical features suggest other conditions. We describe a 12-year-old boy with typical drug reaction with eosinophilia and systemic symptoms syndrome after antituberculosis therapy.
Tajika Tsuyoshi - - 2013
Objectives- First, we investigated the accuracy of carpal tunnel syndrome diagnosis by comparing the cross-sectional area of the median nerve measured at the level of proximal inlet of the carpal tunnel with that measured at the level of the distal radioulnar joint on sonography. Second, we evaluated the correlation between ...
Lavorato Fernanda Guedes FG Rio de Janeiro State University, Pedro Ernesto University Hospital, Rio de JaneiroRJ, - - 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the ...
Sheikhzadeh S S Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology, University Medical Center Hamburg-Eppendorf, Hamburg, - - 2013
The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: ...
Janus Jeffrey R - - 2013
Paraneoplastic syndromes include a variety of disorders that affect the neurologic, endocrine, mucocutaneous, hematologic, and other systems as a result of neoplastic disease. Although their presentations vary, syndromes occur when tumor antigens exhibit cross-reactivity to similar antigens expressed by these systems. The antigens in the nervous system are called "onconeural" ...
Papadopoulou Vasiliki - - 2013
We report here the interesting case of a 76-year-old man with severe proteinuria who was diagnosed with systemic mastocytosis accompanied by a clonal non-mast-cell lineage haematological disorder (a non-secretory plasma cell dyscrasia). This is a unique report of systemic mastocytosis with a non-secretory plasma cell dyscrasia and nephrotic syndrome. The ...
Radke Phillip - - 2013
Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous albinism but also has systemic complications. The ocular and systemic phenotypes vary, depending, in part, on the genetic mutations. This report presents a case of a patient with Hermansky-Pudlak syndrome and the unique association ...
Schneier Andrew J - - 2013
Abstract The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA) and bleeding tendency as their principal clinical manifestations. The pathogenesis of HPS involves disturbances in the biogenesis and trafficking of lysosome-related organelles. While the ophthalmologist is trained to address ...
Matsuda Akira - - 2013
Objectives: To analyze the correlation between dysplastic lineage and type of cytopenia in myelodysplastic syndromes. Methods: We analyzed the correlation between dysplasia and cell count using the data set of our previous morphologic study. Results: There were no correlations between dysgranulopoiesis of 10% or more and absolute neutrophil count (ANC). ...
Kiratli Hayyam - - 2013
Abstract We report two patients with previously diagnosed chronic lymphocytic leukemia who developed Richter syndrome in the orbit as the sole extranodal site. The medical history, clinical findings, orbital imaging and histopathological features of the patients were reviewed. Treatment protocols and the outcomes were also assessed. The first patient developed ...
Masia Jaume - - 2013
Poland syndrome is the most frequent cause of congenital breast aplasia and hypoplasia. Breast and possible chest wall deformities can be treated with several surgical techniques, including implants, and pedicled or free flaps.We describe the case of a young patient with severe Poland syndrome with amastia, athelia, and deformity of ...
Greenberg Peter L - - 2013
The myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic disorders characterized by cytopenias, dysplasia in one or more myeloid lineages, and the potential for development of acute myeloid leukemia. These disorders primarily affect older adults. The NCCN Clinical Practice Guidelines in Oncology for MDS provide recommendations on the ...
Greenberg Peter L - - 2013
The myelodysplastic syndromes (MDS) consist of a heterogeneous spectrum of myeloid clonal hemopathies. The Revised International Prognostic Scoring System (IPSS-R) provides a recently refined method for clinically evaluating the prognosis of patients with MDS. Molecular profiling has recently generated extensive data describing critical hematopoietic molecular and biologic derangements contributing to ...
Matta Bassem N - - 2013
The antiphospholipid syndrome was first described in the early 1980s. The term was first coined to describe patients presenting with recurrent arterial and venous thrombosis or pregnancy complications. Antiphospholipid syndrome was first reported in systemic lupus erythematosus patients, but later on it became obvious that systemic lupus erythematosus is not ...
Parsons Chris - - 2013
Morgagni congenital diaphragmatic hernias are rare. They are associated with chromosomal anomalies, especially Down's syndrome. Acute appendicitis is the most common surgical emergency in childhood, but accurate diagnosis can be a challenge if encountered out of the usual anatomical position. This is the first case report of acute appendicitis within ...
Choudhary Sonal - - 2013
Drug rash with eosinophilia and systemic symptoms syndrome is a severe idiosyncratic drug reaction with a long latency period. It has been described using many terms; however, drug rash with eosinophilia and systemic symptoms syndrome appears to be the most appropriate. This syndrome causes a diverse array of clinical symptoms, ...
Johnson Karen A - - 2013
Background and AimsConvergent floral traits hypothesized as attracting particular pollinators are known as pollination syndromes. Floral diversity suggests that the Australian epacrid flora may be adapted to pollinator type. Currently there are empirical data on the pollination systems for 87 species (approx. 15 % of Australian epacrids). This provides an ...
Rezania Kourosh - - 2013
Abstract Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR). Myopathy is a rare complication of ATTR amyloidosis, however no patient with bent spine syndrome secondary to ATTR amyloidosis has been reported so far. We present the first case of bent spine syndrome in a patient with wild-type ...
Chevalère J - - 2013
INTRODUCTION: The aim of the present study was to determine whether individuals with Prader-Willi syndrome (PWS) have impaired global executive functioning and whether this deficit is linked with intellectual disability. Another objective focussed on the variability in performance of intellectual quotient (IQ) and executive functions (EF) depending on the genotypic ...
Ghariani Ines - - 2013
Myelodysplastic syndromes (MDS) are myeloid disorders with various clinical and biological presentations. The French-American-British (FAB-1982) classification included five categories basing on morphology and bone marrow blast count. Three criteria are taken into account: 1) the percentage of blasts in peripheral blood and bone marrow, 2) the percentage of ringed sideroblasts, ...
Belizna C - - 2013
Systemic and immune manifestations have been reported in patients with MDS. The correlation between immunological abnormalities and prognosis in myelodysplastic syndrome patients remains controversial. Most of the authors agree that the median survival in myelodysplastic syndrome is not related to the presence of systemic and immune manifestations, but only with ...
Harada Yuka - - 2013
Key points BMI1 overexpression is one of the second hit partner genes of RUNX1 mutations that contribute to the development of MDS.
Eccles R - - 2013
Common cold is the most common infectious disease of mankind and the term is widely used in the clinical literature as though it were a defined clinical syndrome. Clinical studies on this syndrome often use elaborate symptom scoring systems to diagnose a common cold. The symptom scores are based on ...
Ziran Bruce - - 2013
OBJECTIVES:: The purpose of this paper was to evaluate the relationship of radiographic features of tibial plateau fractures to the development of compartment syndrome. We hypothesized that the direction and degree of initial displacement of the femur on the tibia, as well as the amount of tibial widening, were correlated ...
Kaydos-Daniels S Cornelia - - 2013
Following the terrorist attacks of September 11 and the anthrax attacks in 2001, public health entities implemented automated surveillance systems based on disease syndromes for early detection of bioterror events and to increase timeliness of responses. Despite widespread adoption, syndromic surveillance systems' ability to provide early notification of outbreaks is ...
Sucher Benjamin M - - 2013
Carpal tunnel syndrome (CTS) is not difficult to confirm by electrodiagnosis (EDX), but the challenge lies in whether to grade the severity and the method for doing so. The arguments about grading are discussed, with an emphasis in favor, using a method that relies on the EDX data, but qualifies ...
Sijia Li - - 2013
One month previously, a 28-year old male underwent an emergency modified Bentall procedure because of Marfan syndrome with acute aortic dissection Stanford Class A. Computed tomography of the chest did not reveal severe graft stenosis of the anastomosis. To explore the cause of anaemia, renal dysfunction and macroscopic haematuria, the ...
Morishima Naohito - - 2013
OBJECTIVE: This study evaluated the prognostic factors of synkinesis following Bell's palsy and Ramsay Hunt syndrome. METHODS: A total of 345 patients consisting of 309 cases of Bell's palsy and 36 cases of Ramsay Hunt syndrome were enrolled in our study. The following 13 factors were considered as candidate prognostic ...
Tokgoz Huseyin - - 2013
BACKGROUND:: Although splenic abnormalities are common in patients with lupus, spontaneous rupture of spleen is extremely rare. OBSERVATIONS:: A 15-year-old boy with new-onset Evans syndrome subsequently diagnosed as systemic lupus erythematosus developed spontaneous rupture of spleen during the course of his illness. Despite the severe thrombocytopenia, he was managed conservatively ...
Velloso E D R P - - 2013
Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic ...
Song Ya-Nan - - 2013
Aim. To evaluate and predict the therapeutic efficacy of Fuzheng-Huayu tablet (FZHY) based traditional Chinese Medicine (TCM) syndrome differentiation or TCM symptoms on chronic hepatitis B caused cirrhosis (HBC). Methods. The trial was designed according to CONSORT statement. It was a multi-center, double-blind, randomized, placebo-controlled trail. Several clinical parameters, Child-Pugh ...
Gu Peiqin - - 2013
Although Chinese medicine treatments have become popular recently, the complicated Chinese medical knowledge has made it difficult to be applied in computer-aided diagnostics. The ability to model and use the knowledge becomes an important issue. In this paper, we define the diagnosis in Traditional Chinese Medicine (TCM) as discovering the ...
Jackson Keith - - 2013
Near-infrared spectroscopy (NIRS) has shown promise in detecting ischemic changes in acute compartment syndrome. The objectives of this study were to 1) assess the correlation in NIRS values between upper and lower extremity control sites for bilateral lower extremity trauma and 2) investigate the effect of skin pigmentation on NIRS ...
Nunamaker Elizabeth A - - 2013
Acute radiation syndrome is a life-threatening condition that has the potential to affect large populations of humans. Although several animal models of this syndrome are available, the total-body-irradiated mouse has emerged as an important tool to evaluate the efficacy of prospective prophylaxis, mitigation, and treatment compounds. Despite the widespread use ...
Roy Krishnendu - - 2013
A middle aged female patient presented with generalised palpable purpura associated with intense pruritus along with subconjunctival haemorrhage and orbital inflammation. There was extensive dermographism. Other systemic examinations were within normal limits. Haematological profile was normal except raised D-dimer. Skin biopsy revealed the presence of leucocytoclastic vasculitis. Antinuclear antibody was ...
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