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King-Shier Kathryn M KM aUniversity of Calgary, - - 2014
Background:Ethnicity and gender may influence acute coronary syndrome patients recognizing symptoms and making the decision to seek care.Objective:To examine these potential differences in European (Caucasian), Chinese and South Asian acute coronary syndrome patients.Methods:In-depth interviews were conducted with 20 European (Caucasian: 10 men/10 women), 18 Chinese (10 men/eight women) and 19 ...
Vlachos Adrianna A Feinstein Institute for Medical Research, Manhasset, NY, - - 2014
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves ...
Lee Yaelim Y School of Nursing, University of Pennsylvania, Philadelphia, - - 2014
To support nurse practitioners in their encounters with aging male patients with signs and symptoms related to the decline of male sex hormones. An electronic search was conducted on studies from 2006 to 2013 from the following databases: PubMed, CINAHL, Scopus, and related health resources websites. The search terms used ...
Urbanowicz Anna A Telethon Institute for Child Health Research, The University of Western Australia , Perth, WA , Australia - - 2014
Abstract Objective: This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication. Methods: Sixteen interviews were conducted with parents with a daughter with Rett syndrome with a pathogenic mutation in the methyl-CpG-binding protein 2 gene. ...
Dy Christopher J CJ Hospital for Special Surgery, 535 E 70th Street, New York, NY, 10021, - - 2014
Although congenital hand anomalies are rare, musculoskeletal clinicians should have a basic understanding of their clinical manifestations and the possibility of concurrent anomalies and syndromes. In this review, we provide a brief overview of the embryology of limb development and the molecular pathways involved. We also summarize the clinical manifestations, ...
Kline Antonie D AD Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, - - 2014
Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with ...
Kamolz L P LP Klinische Abteilung für Plastische, Ästhetische und Rekonstruktive Chirurgie, Universitätsklinik für Chirurgie, Medizinische Universität - - 2014
The diagnosis of carpal tunnel syndrome diagnosis can be made based on the history and clinical findings in most of the cases, but in doubtful cases, electrophysiological tests and ultrasound can provide additonal and useful information.
Snowden Julie J Advanced Orthopaedic Physical Therapy, Louisville, Kentucky, - - 2014
Exertional compartment syndromes in athletes represent a diagnostic and management challenge for clinicians. The clinical presentation of exertional compartment syndrome is similar to other more common musculoskeletal disorders. A lack of special tests or unique diagnostic identifiers for use in decision making by out-patient clinicians complicates early recognition of this ...
Hitch Kelly K California State University, Stanislaus, Turlock, CA, USA, - - 2014
Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return ...
Wheeler Sarahn M SM Departments of Obstetrics and Gynecology and Genetics and the School of Medicine, Johns Hopkins School of Medicine, Baltimore, - - 2014
Although type IV Ehlers-Danlos syndrome is a rare condition, it is critical that physicians be aware of this disease because it presents unique management challenges. We present a young woman who was admitted with a pelvic abscess after having a miscarriage and an appendiceal perforation. She had an exploratory laparotomy ...
Fukuoka Ryota R Department Cardiology, Sinkoga Hospital, - - 2014
Platypnea-orthodeoxia syndrome (POS) is a rare clinical condition defined by the presence of dyspnea and deoxygenation accompanying changing from a supine to an upright position. We experienced the case of a 75-year-old woman who developed severe acute dyspnea after a car accident. Detailed history taking and a physical examination offered ...
Cass Shane S Sports Medicine, University of New Mexico, Albuquerque, NM - - 2014
Peripheral nerve entrapment syndromes are difficult diagnoses to make. Symptoms are often vague and mimic other musculoskeletal pathology. Clinicians' best diagnostic tools for entrapment neuropathies are a good history, physical examination, and anatomical knowledge. Neurodiagnostic testing and advanced imaging have some role to play in entrapment neuropathies, but these are ...
Smith Meagan M 0000-0003-4854-9660 Department of Human Genetics, Emory University, Atlanta, GA 30033, - - 2014
Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order ...
Tarc─â Elena E Discipline of Pediatric Surgery and Orthopedics, Department of Mother and Child, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Department of Pediatric Surgery, "Saint Mary" Children Hospital, Iassy, Romania; - - 2014
Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection ...
Holbrey Sarah - - 2013
Polycystic Ovary Syndrome is a common, chronic condition which affects women living with the condition both physically and psychologically. Social support may be beneficial to sufferers in coping with chronic conditions and the Internet is becoming a common place for accessing social support and information. The aim of this study ...
Kaposy Chris C Faculty of Medicine, Memorial University, St. John's, Newfoundland, - - 2013
This article presents evidence that the availability of a new noninvasive test for Down syndrome (known as "MaterniT21") could result in increased uptake of prenatal testing for Down syndrome and an increase in selective abortions of affected fetuses. I argue that people with Down syndrome and those sympathetic to them ...
Scott Melissa - - 2013
Abstract Purpose: The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers and facilitators to participation. Methods: Twelve young adults with Down syndrome participated in individual and group discussions. Each session began ...
Li Jin - - 2013
Acute coronary syndrome (ACS), a leading cause of morbidity and mortality worldwide, is among the most serious cardiovascular diseases. Exploring novel approaches, which can complement and improve current strategies for ACS, is continuous. MicroRNAs (miRNAs) are a novel class of small, short non-coding RNA that post-transcriptionally regulate genes. The tissue- ...
Marshall Danielle - - 2013
The myelodysplastic syndromes (MDS) pose a unique diagnostic challenge for clinicians and pathologists due to the clinicopathologic heterogeneity of the disease and overlapping features with other benign and malignant disorders. Currently, the initial evaluation of a patient with suspected MDS centers around a detailed medical history, review of the peripheral ...
Dodd Andrew - - 2013
Although uncommon, foot compartment syndrome (FCS) is a distinct clinical entity that typically results from high-energy fractures and crush injuries. In the literature, the reported number of anatomic compartments in the foot has ranged from 3 to 10, and the clinical relevance of these compartments has recently been investigated. Diagnosis ...
Hwang David Y DY Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Neuroscience Intensive Care Unit, Yale-New Haven Hospital, Yale School of Medicine, New Haven, - - 2013
The malignant middle cerebral artery syndrome, characterized by cerebral edema following large anterior circulation ischemic stroke, is a disease entity with high morbidity and mortality that is easy to recognize, but challenging to manage. In this review, we begin by discussing important aspects of the clinical presentation of the syndrome, ...
Hauck Fabian - - 2013
The purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of congenital neutropenia syndromes. Congenital neutropenia comprise monogenetic entities with or without additional immunologic and extrahaematopoietic syndromatic features. Continuous careful explorations of known entities such as ELANE, GFI1, HAX1, G6PC3 and ...
Jeong Sangjin - - 2013
Metabolic syndrome refers to a clustering of specific cardiovascular disease risk factors whose underlying pathology is thought to be related to insulin resistance. The risk factors include insulin resistance, obesity, dyslipidemia, and hypertension and it is known to increase the risk for cardiovascular disease and type II diabetes. Since metabolic ...
Tomey Matthew - - 2013
Dual antiplatelet therapy (DAPT) is a key component of therapy for acute coronary syndromes managed with and without percutaneous coronary intervention. Recent advances have given patients a wider variety of therapeutic options including the use of combinations of agents, dosing strategies, and durations of therapy. The optimal regimen minimizes thrombotic ...
Banerjee Abhishek - - 2013
Fine scale genomic regulation is critical for maintaining genomic integrity and is often disrupted in neurodevelopmental disorders. An intriguing new study reveals the intricate biochemical complexity of de novo post-translational modifications of MeCP2, including activity-dependent protein-protein interactions that 'bridge' the nuclear receptor co-repressor (NCoR) complex to chromatin and lead to ...
Leypoldt Frank - - 2013
Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central, peripheral nervous system or both, originally directed against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with remarkable good response to immune therapy has ignited ...
Lutsky Kevin - - 2013
The use of the Internet for health-related information has increased significantly. In 2000, the current authors examined the source and content of orthopedic information on the Internet. At that time, Internet information regarding carpal tunnel syndrome was found to be of limited quality and poor informational value. The purposes of ...
Farag S - - 2013
Transverse testicular ectopia is an uncommon disorder of testicular ectopia. Nearly thirty percent of the cases is associated with Persistent mullerian duct syndrome which is characterized by karyotypically normal males with retained mullerian derivatives. Understanding the natural process of the condition and the association with malignant potential will allow for ...
Downs Bw - - 2013
This article co-authored by a number of scientists, ASAM physicians, clinicians, treatment center owners, geneticists, neurobiologists, psychologists, social workers, criminologists, nurses, nutritionist, and students, is dedicated to all the people who have lost loved ones in substance-abuse and "reward deficiency syndrome" related tragedies. Why are we failing at reducing the ...
Mansouri Taleghani M - - 2013
Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is a rare recessively inherited disease. Underlying is a severe constitutional deficiency of the von Willebrand factor-cleaving protease, ADAMTS13, due to compound heterozygous or homozygous mutations in the ADAMTS13 gene. The clinical picture ...
Bhatia Parul V PV Department of Oral Medicine and Radiology, Ahmedabad Dental College and Hospital, Gandhi Nagar, Ahmedabad, Gujarat, - - 2013
Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and ...
Husain Zain Z Dermatology, Georgetown University School of Medicine, Washington, DC, - - 2013
The appropriate management of the drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is paramount because it is associated with significant morbidity and mortality. This syndrome shares clinical features with other dermatologic conditions, including other severe cutaneous drug reactions, requiring the clinician to carefully examine the proposed criteria to ...
Jurko Alexander A - - 2013
Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on ...
Kastrinos Fay - - 2013
Prediction models for the identification of Lynch syndrome have been developed to quantify an individual's risk of carrying a mismatch repair gene mutation and help clinicians decide for whom further risk assessment and genetic testing is necessary. There are diverse clinical settings in which a healthcare provider has the opportunity ...
Gregson Robert A M - - 2013
A rare gene deletion syndrome, that has in its associated phenome some possible cognitive and psychotic features, has been examined with DNA and fMRI for its causal basis within families and its statistical distribution in populations. Identification of its presence without DNA evidence is problematic as the condition is not ...
Menko Fred H - - 2013
The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it ...
Saida Satoshi - - 2013
Key points Genetically heterogeneous subclones with varying leukemia-initiating potential exist in neonatal transient abnormal myelopoiesisThis novel xenograft model of transient abnormal myelopoiesis may provide unique insight into the evolutionary process of leukemia.
Rosa Rafael Fabiano M - - 2013
OBJECTIVE: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome). DATA SOURCES: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles ...
Shia Jinru - - 2013
It was a century ago that Warthin, a pathologist, first described the clinical condition now known as Lynch syndrome. One hundred years later, our understanding of this syndrome has advanced significantly. Much of the progress took place over the last 25 years and was marked by a series of interacting developments ...
Waxler Jessica L - - 2013
Healthcare providers often share difficult or life-altering news with their patients yet this challenging and delicate process is frequently met with dissatisfaction by those receiving this news. Articles and guidelines exist to aid providers in sharing diagnoses such as Down syndrome, but relatively few have focused on rare genetic conditions ...
Wang Leilei - - 2013
This article discusses the historical aspects related to the understanding of carpal tunnel syndrome (CTS) and its diagnosis, highlighting observations about this disease that have yet to be challenged. This is followed by a discussion regarding the use of electrodiagnostic testing as a diagnostic tool for CTS, as well as ...
Giampietro P F PF Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisc., - - 2013
Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although ...
Bratu O - - 2013
Introduction: Retroperitoneal tumours represent a particular oncological pathology. No other human pathology is so deceiving and scarce in specific clinical symptoms as these tumours. Usually borrowing the symptoms of nearby organs they are discovered in advanced or incurable stages. Material and method: We have tried to present to you the ...
Volden Joanne - - 2013
Nonverbal learning disability (NLD) is described as a subtype of specific learning disability where the source of the disability is a difficulty in processing nonverbal information. The child with NLD presents with problems in visual, spatial, and tactile perception but with strengths in rote verbal skills. Traditionally, these children were ...
Dórea Fernanda C - - 2013
Recent focus on earlier detection of pathogen introduction in human and animal populations has led to the development of surveillance systems based on automated monitoring of health data. Real- or near real-time monitoring of pre-diagnostic data requires automated classification of records into syndromes-syndromic surveillance-using algorithms that incorporate medical knowledge in ...
Smith Meagan - - 2013
Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes ...
Shoenfeld Yehuda - - 2013
In this Q&A, we talk to Professor Yehuda Shoenfeld about Autoimmune Syndrome Induced by Adjuvants (ASIA) and discuss his recommendations regarding further research in the field.
Ye Xin Cynthia - - 2013
The Portal for Families Overcoming Neurodevelopmental Disorders (PFOND) provides a structured Internet interface for the sharing of information with individuals struggling with the consequences of rare developmental disorders. Large disease-impacted communities can support fundraising organizations that disseminate Web-based information through elegant websites run by professional staff. Such quality resources for ...
González-Rodríguez Ana Pilar - - 2013
Lenalidomide is an oral immunomodulatory drug used in multiple myeloma and myelodysplastic syndrome and most recently it has shown to be effective in the treatment of various lymphoproliferative disorders such as chronic lymphocytic leukemia (CLL) and non-Hodgkin lymphoma. The mechanism of action of lenalidomide varies depending on the pathology, and ...
Guo Shuzhen S School of Preclinical Medicine, Beijing University of Chinese Medicine, Beijing 100029, - - 2013
Objective. To explore new diagnostic patterns for syndromes to overcome the insufficiency of obtainable macrocharacteristics and specific biomarkers. Methods. Chinese miniswines were subjected to Ameroid constrictor, placed around the proximal left anterior descending branch. On the 4th week, macrocharacteristics, coronary angiography, echocardiography, and hemorheology indices were detected for diagnosis. IL-1, ...
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