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Debeffe L L INRA, UR35 Comportement et Ecologie de la Faune Sauvage, Institut National de la Recherche Agronomique, B.P. 52627, 31326 Castanet-Tolosan, France LBBE UMR5558, Université Claude Bernard Lyon 1, 43 boulevard du 11 novembre 1918, 69622 Villeurbanne Cedex, France - - 2014
When individuals disperse, they modify the physical and social composition of their reproductive environment, potentially impacting their fitness. The choice an individual makes between dispersal and philopatry is thus critical, hence a better understanding of the mechanisms involved in the decision to leave the natal area is crucial. We explored ...
Khan Umar A UA Division of Pulmonary and Critical Care, University of Maryland School of Medicine, 110 South Paca Street, 2nd Floor, Baltimore, MD 21201, - - 2014
Prevalence of cancer and its various related complications continues to rise. Increasingly these life-threatening complications are initially managed in the emergency department, making a prompt and accurate diagnosis crucial to effectively institute the proper treatment and establish goals of care. The following oncologic emergencies are reviewed in this article: pericardial ...
Bayram Yavuz Y Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, - - 2014
GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and ...
Sobey Glenda - - 2014
The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many ...
Mahon Richard T RT Naval Medical Research Center, Undersea Medicine Department, Silver Spring, - - 2014
The ever-present desire of humankind to explore new limits introduced us to the syndrome of decompression sickness (DCS). This broad overview of DCS is aimed at its pathophysiology and basics of therapeutic strategies. After a brief explanation of decompression theory, historical vignettes will serve to inform the practical application of ...
Fernández-Jaén Alberto A Pediatric Neurology Unit, Hospital Universitario Quirón Madrid, C/Diego de Velazquez 1, 28024, Pozuelo de Alarcón, Madrid, Spain, - - 2014
We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important ...
Marianetti T M TM Maxillofacial Surgery Department, Catholic University Medical School, Complesso Integrato Columbus, Roma, - - 2014
Trismus-Pseudocamptodactyly Syndrome (TPS) is a rare autosomal syndrome characterised by the inability to open the mouth fully, pseudocamptodactyly, short stature and foot deformities. The maxillofacial feature entails hyperplasia of the coronoid processes which mechanically interfere with the zygomatic processes during mouth opening. A 22-year- old girl affected by a severe ...
Hutson John M JM Department of Urology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, - - 2014
When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had ...
Litchford Mary Demarest MD CASE Software & Books, Greensboro, North Carolina mdlphd@yahoo.com - - 2014
Food preservation technologies and medical advances in the past 50 years have contributed to safeguarding the health and prolonging the lives of individuals worldwide. However, living longer does not automatically equate with being healthy, living independently, making judicious decisions, or setting goals and achieving them. Most adults will experience 1 ...
Zyluk Andrzej A Department of General and Hand Surgery, Pomeranian Medical University in Szczecin, Szczecin, Poland. Electronic address: - - 2014
In this paper, we present some impressions and thoughts about CRPS which we found useful in our proceedings with CRPS patients. The clinical sub-types of the CRPS are presented and differences in their characteristics are discussed. The current pathophysiological concepts for CRPS are outlined. Diagnostic criteria are presented and critically ...
Giugliani Roberto R Serviço de Génetica Médica , Hospital de Clinicas de Porto Alegre , Porto Alegre, RS , Brazil . ; Departamento de Génetica , Universidade Federal do Rio Grande do Sul , Porto Alegre, RS , Brasil . ; Instituto Nacional de Genética Médica Populacional , Porto Alegre, RS , Brazil - - 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is ...
Oudaina W W Centre hospitalier provincial, laboratoire de biologie clinique, Errachidia, - - 2014
Visceral leishmaniasis (VL) is a parasitic disease that is a public health problem in Morocco and is one of the frequent infectious causes of macrophage activation syndrome (MAS). The combination of clinical and laboratory criteria, even very unspecific, make it possible to diagnose MAS, but a definitive diagnosis requires cytological ...
Massarweh Suleiman S Department of Internal Medicine, University of Kentucky , Lexington, KY, - - 2014
Angiosarcomas are exceedingly rare tumors that are often difficult to diagnose. Exceptionally unusual is the presentation of these tumors with Kasabach-Merritt Syndrome, a curious form of intratumoral coagulation that can be impossible to distinguish from intravascular coagulation, which is more common. Instant recognition of this clinical association can help making ...
Chu Linda C LC 1 The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Hospital, 601 N Caroline St, Baltimore, MD - - 2014
OBJECTIVE. Arterial dissection and aneurysm rupture are significant sources of morbidity and mortality in patients with connective tissue diseases. This article provides a detailed analysis of cardiovascular involvement in Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. CONCLUSION. Although these syndromes share some overlapping features, they have discriminating clinical and ...
Dilzell Kristen K Department of Genetics, Stanford University, Stanford, CA, - - 2014
Facilitating family communication about Lynch syndrome is a public health priority since following appropriate screening guidelines can decrease morbidity and mortality. The aims of this study were to (1) ascertain what educational materials individuals with Lynch syndrome provide to at-risk relatives, and (2) identify relationships between receiving educational materials and ...
Ng Jacqueline K JK *Oregon Health and Science University, Casey Eye Institute; and †EyeHealth Northwest, Portland, Oregon, - - 2014
The purpose of this report was to present a case of congenital alacrima in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. On further history taking and evaluation, the patient was noted to have no tear production, ...
Blouet Marie M Department of Radiology, Centre Hospitalier Universitaire de Caen, Caen, - - 2014
Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the ...
Baliga Ragavendra R RR Division of Cardiovascular Medicine, Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio. Electronic address: - - 2014
Aortic aneurysm and acute aortic syndrome are not uncommon conditions. Management of acute aortic dissection and related syndromes requires a multidisciplinary approach with input from the patient, clinician, imager, surgeon, and anesthesiologist. This requires an integrated evaluation of pathophysiology, anatomy, and severity to enable appropriate therapy. This review includes discussion ...
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 ...
Cunliffe S - - 2014
Gardner's syndrome is a variant of Familial Adenomatous Polyposis (FAP), a condition that manifests as hundreds of colorectal polyps likely to undergo malignant change by the fourth decade. Early diagnosis of this condition has the potential to be life saving for individuals and due to its inherited nature other family ...
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, ...
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. ...
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 ...
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 ...
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 ...
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 ...
Lindor Noralane M NM From the Department of Health Sciences Research, Mayo Clinic, Scottsdale, - - 2014
Lynch syndrome was described over a century ago but information on the medical consequences and optimal management of this disorder continue to amass and evolve. This brief overview highlights the gene-specific and site-specific cancer penetrance and management options for those with Lynch syndrome.
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 ...
Kastrinos Fay F Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, - - 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 ...
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