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Harris Jennifer M JM Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, - - 2014
'Primary progressive aphasia' (PPA) refers to core linguistic disorders caused by neurodegenerative disease. Three main PPA variants are recognized: nonfluent/agrammatic, semantic and logopenic. Correctly classifying patients during life according to the underlying histopathology will become increasingly important as cause-specific treatments become available. This article reviews clinical and histopathological studies of ...
Ruiz-Picazo D D Servicio de Cirugía Ortopédica y Traumatología, Complejo Hospitalario Universitario de Albacete, Albacete, - - 2014
Morquio syndrome is caused by an inherited autosomal recessive enzyme deficiency. It presents with numerous musculoskeletal anomalies, among which atlantoaxial instability is highlighted, due it being life-threatening. Occipital-cervical arthrodesis surgery (and decompression) is indicated in these cases. The cases of 2 patients with Morquio syndrome that required this type of ...
Lee Daniel W DW Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, United - - 2014
As immune based therapies for cancer become potent, more effective and more widely available, optimal management of their unique toxicities becomes increasingly important. Cytokine release syndrome (CRS) is a potentially life threatening toxicity that has been observed following administration of natural and bi-specific antibodies and more recently, following adoptive T ...
Miller Kristen K KK Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New - - 2014
Chemotherapy-induced hand-foot syndrome and nail changes are common complications of many classic chemotherapeutic agents and the newer molecular targeted therapies. They significantly impact patient quality of life, and frequently necessitate chemotherapy dose intensity modification or reduction. We aim to describe the epidemiology, pathogenesis, clinical presentation, and current evidence-based treatment options ...
Juul Therese T 1Department of Surgery P, Aarhus University Hospital, Aarhus, Denmark 2Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden 3General and Digestive Surgery, Colorectal Unit, Bellvitge University Hospital, Barcelona, Spain 4Hospital Valle de Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain 5Department of Surgery, University Erlangen, Erlangen, - - 2014
An increasing number of patients are surviving a diagnosis of rectal cancer. The majority of the patients are treated with the sphincter-sparing surgical procedure low anterior resection, and 50% to 90% of these patients experience bowel dysfunction, known as the low anterior resection syndrome. No previous studies have investigated the ...
Buoro Mathieu M Department of Environmental Science Policy and Management, University of California, 130 Mulford Hall #3114, Berkeley, CA, 94720-3114, - - 2014
Recent research has highlighted interdependencies between dispersal and other life-history traits, i.e. dispersal syndromes, thereby revealing constraints on the evolution of dispersal and opportunities for improved ability to predict dispersal by considering suites of dispersal-related traits. This review adds to the growing list of life-history traits linked to spatial dispersal ...
Jin Yantao Y Department of AIDS Treatment and Research Center, the First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, - - 2014
The aim of this paper was to review cohort studies that analyze changes in the quality of life of people living with human immunodeficiency virus/acquired immune deficiency syndrome. We searched the PubMed and EmBase databases from inception to December 2012 for primary cohort studies of the quality of life of ...
O'Neill Shane Ciaran SC National Spinal Injuries Unit, Department of Orthopaedic and Trauma Surgery, Mater Misericordiae University Hospital, Eccles Street, Dublin, - - 2014
Study Design. A readability and quality-control Internet-based study using recognized quality scoring systemsObjective. To assess the readability and quality of Internet information relating to Cauda Equina Syndrome accessed through common search engines.Summary of Background Data. Access to Health-related Internet information has increased dramatically over the past decade. A significant proportion ...
Turner Michael D - - 2014
Although the cause and molecular pathways of Sjögren's syndrome are still unknown, basic, clinical, and translational science have started to identify linkages to other known processes. With the advent of newer, more sensitive, and more accurate chemokine, cytokine, and genetic analysis, the molecular progression of the disease may be understood. ...
Raposo-Amaral Cassio Eduardo CE Campinas, Brazil From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas, - - 2014
Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less ...
Bois Evan E 1Rite Aid, Waterville, ME, - - 2014
Imatinib, a BCR-ABL tyrosine kinase inhibitor, is known to cause mild to moderate cutaneous reactions in up to approximately 20% of patients. It rarely causes severe reactions, such as Stevens-Johnson syndrome, which can be life threatening. Typically, these rashes occur within two months of initiating therapy. We report a case ...
Badawi Ahmed H AH 1School of Medicine, University of Kansas Medical Center, Kansas City, - - 2014
A 48-year-old man with typical features of Schnitzler Syndrome is presented, followed by a discussion of the pathogenesis and clinical aspects of this rare disease. Some of the challenges we and others have faced in diagnosing and treating this disease are also discussed. Clinical pearls and pitfalls are emphasized to ...
Stride P P P Stride 23 Aland St Wavell Heights Brisbane, Queensland Australia. - - 2013
The mental decline of King Henry VIII from being a jovial, charismatic and athletic young man into an increasingly paranoid, brutal tyrant in later life, ever more concerned at his lack of one or more male heirs, has attracted many medical diagnostic theories. Previous hypotheses have included diabetes, syphilis and ...
Ramos-Casals Manuel - - 2013
Haemophagocytic syndromes (haemophagocytic lymphohistiocytosis) have a wide range of causes, symptoms, and outcomes, but all lead to a hyperinflammatory response and organ damage-mainly reported in paediatric patients, but reports of adult presentation are increasing. Analysis of the genetic and molecular pathophysiology of these syndromes have improved the understanding of the ...
Sacco Casamassima Maria Grazia MG Center for Pediatric Surgical Clinical Trials and Outcomes Research, Division of Pediatric Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, - - 2014
Acquired Jeune's syndrome is a severe iatrogenic deformity of the thoracic wall following a premature and aggressive open pectus excavatum repair. We report herein our technique and experience with this rare condition. From 1996 to 2011, nineteen patients with acquired Jeune's syndrome were retrospectively identified in a tertiary referral center. ...
Walusinski Olivier - - 2013
Octave Landry was one of a long list of fine 19th century clinicians who died very young and whose discoveries in physiology and descriptions of new clinical pictures helped found current-day neurology. In 1852, Landry proposed a new take on the physiology of sensation which laid the ground for the ...
Meola Stacy D - - 2013
Brachycephalic airway syndrome is a common finding in brachycephalic breeds. A combination of primary and secondary changes can progress to life-threatening laryngeal collapse. Early recognition of primary anatomic abnormalities that include stenotic nares, elongated soft palate, and hypoplastic trachea would allow the clinician to make early recommendations for medical and ...
Bausch Birke - - 2013
Sporadic and hereditary forms of renal cell carcinoma (RCC), von Hippel-Lindau (VHL) disease and the familial paraganglioma syndromes are closely related in terms of their clinical, molecular, and genetic aspects. Most RCCs occur sporadically and the heritable fraction of RCC is estimated to be just 2-4%. An understanding of the ...
Santini Valeria - - 2013
Dysregulation of cellular epigenetic machinery is considered a major pathogenetic determinant in many malignancies, including myelodysplastic syndromes (MDS). The importance of epigenetic dysfunction in MDS is reflected by the success of hypomethylating agents as standard of care for their treatment. Although these agents improve both survival and quality of life, ...
Thoppay Jaisri R - - 2013
Burning mouth syndrome (BMS) is a chronic condition that is characterized by burning symptoms of the oral mucosa without obvious clinical examination findings. This syndrome has complex characteristics, but its cause remains largely enigmatic, making treatment and management of patients with BMS difficult. Despite not being accompanied by evident organic ...
Mopagar Viddyasagar P - - 2013
Vascular lesions represent one of the rare disorders affecting overall quality of life of a child. A wide variety of these conditions are known, ranging from a simple nevus to life-threatening hemangiomas. These conditions make the treatment options more complex due to the fear of uncontrollable bleeding. The present case ...
Dyke Paula - - 2013
Abstract Background The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school environment to an emerging adult life that may be characterised by a wide variation in adoption of adult roles related to employment, independent living, friendships, and ...
Konstantinou Paschalis - - 2013
A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15 years old. The ...
Ip Winnie - - 2013
Adenovirus causes significant morbidity and mortality in immunocompromised children. We report how an infusion of HLA-matched sibling donor T lymphocytes rapidly eradicated life-threatening, high-level adenoviremia in a child with complete DiGeorge syndrome (22q11.2 deletion) who went on to reconstitute a diverse, donor-derived, postthymic T-cell repertoire.
Vinod Kolar Vishwanath KV Department of General Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantrinagar, Puducherry, - - 2013
Dapsone can cause several adverse effects, the most serious being dapsone hypersensitivity syndrome (DHS), which is potentially fatal. Here we report a case of severe, life threatening dapsone systemic hypersensitivity syndrome in a 17-year-old male who presented with high grade fever, eosinophilia, lymphadenopathy, skin rash, hepatitis and encephalopathy, which was ...
González S - - 2013
Sjögren's syndrome (SS) is a complex, chronic, systemic, autoimmune disease that mainly affects the exocrine glands, especially the salivary and lacrimal glands, leading to dryness of the oral and ocular mucosae. Several factors have been studied that could explain the glandular hypofunction primarily related to water transport. Recent reports have ...
Santavy Petr - - 2013
BACKGROUND: Marfan syndrome (MFS) is the most common inherited disorder of connective tissue affecting multiple organ systems. The most life-threatening and life-shortening complication is aortic dissection. Without surgery, life expectancy of MFS patients is reduced to approximately 32 years. Early identification and appropriate multidisciplinary medical cooperation is essential. CONCLUSION: Proper ...
Malhotra Gaurav - - 2013
A 43-year-old man with known superior mediastinal syndrome due to Tc HYNIC DOTA SPECT/CT and F-FDG PET tracer avid inoperable metastatic carcinoid received peptide receptor based radionuclide therapy (PRRT) with Lu-DOTATATE. Repeat evaluation at 3 months post-therapy demonstrated stable disease with alleviation of patient's symptoms and remarkable improvement in the ...
Cingel Vladimir - - 2013
Poland syndrome is a rare congenital anomaly described by Sir Alfred Poland over 170 years ago. Combination of unilateral aplasia of the sternocostal head of musculus pectoralis major, and an ipsilateral hypoplastic hand with simple syndactyly and short fingers is typical for this condition. It occurs more frequent among males, and ...
Stevens Virginie M - - 2013
Due to its impact on local adaptation, population functioning or range shifts, dispersal is considered a central process for population persistence and species evolution. However, measuring dispersal is complicated, which justifies the use of dispersal proxies. Although appealing, and despite its general relationship with dispersal, body size has however proven ...
Puiu Maria - - 2013
Mucopolysaccharidosis II (Hunter syndrome) is a rare x-linked disorder caused by a deficiency in the lysosomal enzyme iduronate-2-sulphatase, leading to an accumulation of the glycosaminoglycans (GAGs) dermatansulphate and heparan sulphate. The consequence of GAGs accumulation is progressive, multiorgan disease. Enzyme-replacement therapy is hypothesised to result in disease stabilisation and improved ...
Mondal Rakesh - - 2013
Isolated acquired macroglossia of tongue rarely reported. It occurs due to causes like hereditary angioedema, localized angioedema, etc., Here we describe an 8-year-old boy developing life threatening localized angioedema of tongue due to phenytoin without any association with drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome or pseudolymphoma encountered ...
Masala Salvatore S Department of Diagnostic and Molecular Imaging, Interventional Radiology and Radiation Therapy, Fondazione Policlinico Tor Vergata, Viale Oxford 81, 00133 Rome, - - 2013
We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of a patient with immobilization syndrome due to paraplegia and vertebral osteoporotic fractures. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization in patient with immobilization syndrome ...
Sharan Alok D - - 2012
Dropped head syndrome (DHS) is characterized by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. DHS is most commonly associated with neuromuscular disorders. However, it is not always accompanied by electromyographic findings or noticeable changes on muscle biopsy. In such cases, the term ...
de Figuerêdo Adson Andrade - - 2012
ABSTRACT: Ascher syndrome is defined by the association between double lip, blepharochalasis, and nontoxic goiter. Because it is a rare disease, it is most often misdiagnosed, despite its implications for quality of life. We report a variation of an incomplete type of Ascher syndrome affecting the upper lip, upper eyelids, ...
Culver Daniel A - - 2012
Sarcoidosis is a multisystem granulomatous syndrome with a vast range of clinical manifestations. Since the first description of sarcoidosis in 1869, it has simultaneously intrigued and perplexed generations of physicians. Because sarcoidosis can occur variably in any organ and does not always adhere to classic descriptions, both diagnosis of sarcoidosis ...
Naveen Kikkeri Narayanasetty - - 2012
Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and ...
Stewart Julian M JM Departments of Pediatrics, Physiology and Medicine, The Maria Fareri Childrens Hospital and New York Medical College, Valhalla, NY, USA. - - 2012
Orthostasis means standing upright. One speaks of orthostatic intolerance (OI) when signs, such as hypotension, and symptoms, such as lightheadedness, occur when upright and are relieved by recumbence. The experience of transient mild OI is part of daily life. 'Initial orthostatic hypotension' on rapid standing is a normal form of ...
Gunsoy Behçet B Department of Otorhinolaryngology, Gaziantep Dr. Ersin Aslan State Hospital, Gaziantep, - - 2013
To evaluate the quality of life after surgery for benign neoplastic disease of the parotid gland. Forty-nine patients who underwent surgery for benign parotid disease between January 2004 and December 2008 were included in this retrospective study. EORTC QLQ-C30 and EORTC QLQ-H&N35 questionnaires were used to determine the quality of ...
Fricchione Marielle J - - 2012
We believe this to be the first case of life-threatening paraneoplastic syndrome (PNS) in a child with undifferentiated embryonal sarcoma of the liver (UESL). We report a case of a 9-year-old child with UESL believed to be unresectable at presentation, who experienced life-threatening, refractory long QTc syndrome, Torsades de pointes, ...
Nassiri Naiem - - 2012
Carotid blowout syndrome is a rare life-threatening complication of head and neck malignancy. Current literature has focused exclusively on the carotid system and associated branches. We present a unique case of multivessel blowout in the setting of a large nonresectable neck sarcoma requiring various endovascular techniques for palliation.
Cavanna Andrea E - - 2012
Tourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities ...
Juneja A - - 2012
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These ...
Chakrabarti Debaprasad - - 2012
Polyglandular auto-immune syndromes are rare entity. It is characterised by immune, dysfunction affecting two or more endocrine glands as well as certain non-endocrine organs. Diagnosing such cases could be challenging and misleading too. Early recognition and treatment of such cases can stand between the life and death of a patient. ...
Chacaltana Mendoza Alfonso - - 2012
The development of diffuse large B cell lymphoma during the course of chronic lymphocytic leukemia is known as Richter's syndrome, considered as one of the most serious complications of this disease. It occurs mainly in lymphoid tissues and organs, for which extranodal involvement--especially in the gastrointestinal tract--is not common. We ...
Nair Karippoth Mohandas - - 2012
Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult ...
Kute Vivek B - - 2012
Plasmodium vivax is causing increasingly more cases of severe malaria worldwide. Among 25 cases in India during 2010-2011, associated conditions were renal failure, thrombocytopenia, jaundice, severe anemia, acute respiratory distress syndrome, shock, cerebral malaria, hypoglycemia, and death. Further studies are needed to determine why P. vivax malaria is becoming more ...
Berglund Britta - - 2012
Aims: To investigate the perceived impact of oral health-related quality of life problems in individuals with Ehlers-Danlos syndrome. Methods:: Members of the Swedish Ehlers-Danlos Syndrome Association completed the Oral Health Impact Profile (OHIP-14). Of the 250 participating individuals, 223 were women, and they were the main focus of the analyses. ...
Elena Grechi - - 2012
Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). The complex phenotype is most probably caused ...
Lodato Dena L - - 2012
Brachycephalic airway syndrome (BAS) is a group of primary and secondary abnormalities that result in upper airway obstruction. Several of these abnormalities can be addressed medically and/or surgically to improve quality of life. This article reviews potential complications, anesthetic considerations, recovery strategies, and outcomes associated with medical and surgical management ...
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