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Tsai Richard M RM Department of Neurology, University of California San Francisco, 675 Nelson Rising Lane, Suite 190, San Francisco, CA, 94115, USA, - - 2014
Frontotemporal dementia (FTD) encompasses a spectrum of neurodegenerative diseases with heterogeneous clinical presentations and two predominant types of underlying neuropathology. FTD typically comprises three distinct clinical syndromes: behavioral variant frontotemporal dementia (bvFTD), semantic variant primary progressive aphasia (svPPA), and nonfluent variant primary progressive aphasia (nfvPPA). FTD also frequently overlaps both ...
Bonaca Marc P MP Cardiovascular Division, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA, - - 2014
Acute aortic syndromes constitute a spectrum of conditions characterized by disruptions in the integrity of the aortic wall that may lead to potentially catastrophic outcomes. They include classic aortic dissection, intramural hematoma, and penetrating aortic ulcer. Although imaging studies are sensitive and specific, timely diagnosis can be delayed because of ...
Cicero Arrigo F G AF aMedicine and Surgery Department, University of Bologna, Bologna bInternal Medicine and Therapeutics Department, University of Pavia, Pavia, - - 2014
Metabolic syndrome is an increasingly incident complex metabolic disorder, affecting around 30% of adults in the USA as well as in Europe. In a meta-analysis that evaluated cardiovascular risk associated with the third National Cholesterol Education Program definition of metabolic syndrome in 951 083 patients, metabolic syndrome was associated with a ...
Wilson Sg S Leeds Teaching Hospitals NHS Trust, - - 2014
Complications from HELLP (Haemolysis, Elevated Liver enzymes and Low Platelet) syndrome may present as an emergency to any surgeon. We review the ten-year experience of a tertiary hepatobiliary centre managing HELLP patients. Three selected cases are described to highlight our management strategy and a systematic review of the recent literature ...
Radtke Andrew C AC Division of Pediatric Urology, Department of Urology, University of Wisconsin School of Medicine and Public Health, Madison, - - 2014
Diagnosis, decision making, and counseling for patients with disorders of sexual development pose challenges for physicians and families. Accurate antenatal evaluation combined with effective communication between the family and multidisciplinary team is important to provide the best patient outcome. We reviewed 2 cases from our institution that illustrate the complexity ...
Takahara Mitsuyoshi M Department of Metabolic Medicine, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, - - 2014
A clustering of metabolic abnormalities such as dyslipidemia, hypertension, and diabetes mellitus, all of which are major risk factors for cardiovascular disease (CVD), occurs more often than by chance. Numerous epidemiological studies, as well as basic researches, have revealed that visceral fat accumulation is closely involved in this risk clustering. ...
Metz David Kieran DK Royal Children's Hospital, Melbourne, Victoria, - - 2014
Childhood nephrotic syndrome is a condition managed by general paediatricians and paediatric nephrologists. Whether treating a first presentation or a relapse, the clinician requires expertise in order to minimise the risk of serious complications and optimise long-term care. Indeed, many children suffer a difficult relapsing course in their disease, warranting ...
Jung Sungmo S Department of Internal Medicine, Institute of Gastroenterology, College of Medicine, Yonsei University, Seoul, South - - 2014
Evidence indicates that irritable bowel syndrome can occur after gastroenteritis. However, little is known about its incidence after diverticulitis. This study was designed to identify the incidence and risk factors of irritable bowel syndrome after diverticulitis in Korea. A survey regarding irritable bowel syndrome was performed in patients allocated to ...
Janocha-Litwin Justyna J First Department of Infectious Disease, J. Gromkowski Specialist Regional Hospital in Wroclaw, Wroclaw, - - 2014
Ephedrone encephalopathy is referred to as a group of symptoms of manganese deposition within the central nervous system (CNS), resulting from the abuse of ephedrone (methcathinone), obtained in reaction using the excess amount of manganese-containing oxidants. The diagnosis is based on the contrast-enhanced head MRI findings characteristic for this syndrome, ...
Pérez-de José Ana - - 2014
Nefrologia 2014;34(5):XXX. doi10.3265/Nefrologia.pre2014.Jun.12620 Reply to Esteve et al. Comment on Nefrologia 2014;34(4):xx. Nefrologia 2014;34(1):69-75.
Kuo James A JA Cook Children's Medical Center, Department of Cardiology, 1500 Cooper Street, 3rd Floor, Fort Worth, TX, - - 2014
Venovenous collateral vessels are a common cause for desaturation in patients who have undergone a Fontan procedure. We describe a patient with heterotaxy syndrome (leftward pointing apex) and complex single ventricle with Fontan physiology that was desaturated due to a hepatocardiac vein. The vessel was entered via a left transhepatic ...
Yeung Aaron M AM University Hospital Coventry and Warwickshire NHS Trust , Coventry, West Midlands , United - - 2014
Abstract Purpose: Floppy eyelid syndrome is a condition that is difficult to identify and diagnose and with no clear guidelines on its management. We propose a method of reliably grading this syndrome and have proposed a management algorithm based on the grading. Materials and Methods: Retrospective data collection of patients ...
Ahn Annie K AK Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, - - 2014
Moyamoya syndrome is a rare, occlusive cerebrovascular arteriopathy with significant risk for stroke. Populations that frequently undergo otolaryngologic procedures, including patients with Down syndrome and sickle cell disease, are particularly at risk for moyamoya. The initial presentation of moyamoya syndrome as stroke in the perioperative period of an otolaryngologic procedure ...
Rondon-Berrios Helbert H Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, A915 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA, 15261, USA, - - 2014
Hyponatremia has complex pathophysiology, is frequent and has potentially severe clinical manifestations, and its treatment is associated with high risks. Hyponatremia can be hypertonic, isotonic or hypotonic. Hypotonic hyponatremia has multiple etiologies, but only two general mechanisms of development, defective water excretion, usually because of elevated serum vasopressin levels, or ...
Santoro Lucia L Division of Pediatrics, Department of Clinical Sciences, Salesi Hospital, Polytechnic University of Marche, Ancona, - - 2014
Since 2005, the Pediatric Clinic of Maternal-Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d'Oro in Osimo, has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigation is the largest Italian cohort study of CHARGE patients. CHARGE syndrome is ...
White Jason C JC Pediatric Residency Program, - - 2014
Vanishing bile duct syndrome (VBDS) is a rare disorder characterized by loss of interlobular bile ducts and progressive worsening cholestasis. The acute presentation of this disease is typically associated with a drug hypersensitivity and Stevens-Johnson syndrome/toxic epidermal necrolysis (TEN). The mainstay of treatment has been ursodeoxycholic acid with mixed results ...
Omar Sabry S Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, - - 2014
: Vasoplegia syndrome is a well known complication after cardiac surgery and has a significant morbidity and mortality. It is characterized by profound vasodilation and loss of systemic vascular resistance leading to hypotension. The pathogenesis of vasoplegia involves the activation of contact, coagulation and complement systems and the activation of ...
Boch Michael - - 2014
Paraneoplastic neurological syndromes (PNS) have frequently been described in patients with lung or breast cancer. However, some reports also described a correlation to carcinoid tumors, probably triggered via the excessive release of hormones. We report the case of a 40-year-old woman that was diagnosed with a neuroendocrine neoplasm (NEN) of ...
Aslan Deniz D Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, - - 2014
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including ...
Kim Ji Eun JE Ji Eun Kim, Gi Jun Kim, Jae Young Kim, Jong Wook Kim, Hyunho Kim, Hye Won Lee, Taeseok Lim, Hyoju Ham, Hyun Jin Oh, Yeongbok Lee, Jaeho Byeon, Sung Soo Park, Department of Internal Medicine, Seoul St Mary's hospital, The Catholic University of Korea, College of Medicine, Seoul 137-701, South - - 2014
Acute respiratory distress syndrome is a life-threatening disorder caused mainly by pneumonia. Clostridium difficile infection (CDI) is a common nosocomial diarrheal disease. Disruption of normal intestinal flora by antibiotics is the main risk factor for CDI. The use of broad-spectrum antibiotics for serious medical conditions can make it difficult to ...
Rajah Gary G Department of Neurosurgery, Wayne State University School of Medicine, - - 2014
Blue rubber bleb nevus syndrome (BRBNS) can present with vascular malformations throughout the body, especially in the gastrointestinal tract. Spinal cord compression from these lesions is rare, particularly in the pediatric population. The authors report a case of BRBNS involving an 18-year-old female patient who presented with back pain and ...
Liu Fang F Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, - - 2014
The aim of this study was to evaluate the performances of three criteria, the Paris criteria, the revised diagnostic criteria and the simplified diagnostic scoring system for the diagnosis of primary biliary cirrhosis (PBC)-autoimmune hepatitis (AIH) overlap syndrome in Chinese patients. Medical records of the patients who were diagnosed with ...
Kapson Blaire B Stony Brook Department of Neurology, Stony Brook, - - 2014
Kleine-Levin syndrome (KLS) is a rare and disabling disorder characterized by recurrent episodes of hypersomnia as well as cognitive and behavioral abnormalities. Sadly, the treatment options are very limited and often ineffective. To our knowledge, there have been no reports in the literature for the use of acetazolamide as a ...
Faccini-Martínez Alvaro A AA Microbiology Department, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, - - 2014
Rickettsioses share common clinical manifestations, such as fever, malaise, exanthema, the presence or absence of an inoculation eschar, and lymphadenopathy. Some of these manifestations can be suggestive of certain species of Rickettsia infection. Nevertheless none of these manifestations are pathognomonic, and direct diagnostic methods to confirm the involved species are ...
Valika Ali A AA Advocate Medical Group-Midwest Heart Specialists, Oak Brook, IL, USA, - - 2014
Acute cardiorenal syndrome, also known as cardiorenal syndrome type 1, is defined as an abrupt worsening of cardiac function that occurs in at least 30 % of patients with acute decompensated heart failure and can lead to the development of acute kidney injury. The changes in renal function that occur in ...
Kourouklaris Andreas - - 2014
Differential diagnosis of thrombotic microangiopathies can be difficult. Atypical hemolytic uremic syndrome is a rare, life-threatening disease caused by uncontrolled chronic activation of alternative complement pathway, resulting in microvascular thrombosis, organ ischemia and damage. Prognosis is poor: up to 65 percent of patients require dialysis or have kidney damage of ...
Suzuki Daisuke D Department of Pediatrics, Sapporo Hokuyu Hospital, Higashi-Sapporo 6-6, Shiroishiku, Sapporo, 003-0006, Japan, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder characterized by seizures, altered mental status and visual disorders, along with characteristic radiological findings. It is strongly related to hypertension induced by steroids and other immunosuppressive agents. There are an increasing number of reports regarding PRES arising during the course of ...
Beh Shin C SC Department of Neurology, Johns Hopkins University Hospital, Baltimore, Maryland, USA Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center at Dallas, Dallas, Texas, - - 2014
Posterior cortical atrophy (PCA) is a neurodegenerative syndrome dominated by deterioration of higher visual function (particularly visuospatial and visuoperceptual abilities). It is most commonly due to Alzheimer's disease pathology, but may also be caused by dementia with Lewy bodies, corticobasal degeneration or Creutzfeldt-Jakob disease. Patients often present to optometrists, ophthalmologists ...
Peker Deniz D Department of Pathology, University of Alabama, 1802 6th Ave South, NP 3552, Birmingham, AL, 35233-7331, USA, - - 2014
Therapy-related myeloid neoplasms (t-MN) have a common origin in prior cytotoxic therapy and/or radiation. These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), and myelodysplastic/myeloproliferative neoplasms (t-MDS/MPN). Myeloid sarcoma (MS), on the other hand, is a rare disease manifesting as an extramedullary collection of immature cells of myeloid lineage. ...
Ali Naeem - - 2014
Objective: Characterize mandibular morphology in patients with syndromic craniosynostosis and document changes in mandibular position following midfacial advancement using distraction osteogenesis (DO). Design : Retrospective chart review and analysis of cephalometric radiographs. Setting : Tertiary care center. Patients : Patients with syndromic craniosynostosis who had midfacial advancement with DO at ...
Bunting Alexandra C AC Faculty of Medicine, University of Ottawa, Ottawa, ON, - - 2014
We present a case of a 12-year-old male with Loeys-Dietz syndrome (LDS), a rare life-threatening genetic disorder. Multiple manifestations of LDS were present, including easy bruising, aortic root dilatation, multiple areas of vessel tortuosity, and joint laxity. The patient's medications included a beta-blocker and an angiotensin II receptor antagonist for ...
Canavan C C Division of Epidemiology and Public Health, University of Nottingham, Nottingham, - - 2014
Irritable bowel syndrome (IBS) is a chronic functional disorder of the gastrointestinal system affecting a large number of people worldwide. Whilst it has no attributable mortality, it has substantial impact on patients' quality of life (QoL) and is associated with considerable healthcare resource use. To review the economic impact of ...
Kokpol Chayada C Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, - - 2014
The prevalence of metabolic syndrome in Asian psoriatic patients compared with that of the general population shows variable results. This study aimed to examine the association between psoriasis and metabolic syndrome in a Thai population. This case-control study included 199 psoriatic patients and 199 controls matched for sex and age ...
Cossellu Gianguido - - 2014
We report here the case of orthodontic nonsurgical treatment in a patient with Binder syndrome. This rare syndrome (<1/10,000) is a deforming alteration of the middle third of the face, also known as maxillonasal dysplasia/dysostosis. The therapeutic approach often undertaken is an orthodontic-surgical protocol, which includes several invasive interventions such ...
Srinivasaraghavan Rangan R Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, - - 2014
We describe an 8-year-old girl born to second-degree consanguineous parents with complaints of recurrent episodes of hematuria for 6 months. She had generalized peeling of the skin since birth and recurrent purulent cutaneous infections. The clinical presentation and histopathology of the skin biopsy specimen were consistent with the inflammatory variant of ...
Abed Jean - - 2014
Case: A 25-year-old woman with chronic anorexia nervosa and depression presented with sudden weakness and fatigue. Psychosocial history was notable for binge-starve cycles over the past year and a decline in overall well-being. Vitals on presentation were notable for hypothermia, hypotension, and bradycardia. Initial exam was significant for emaciation, lethargy, ...
Mete Ural Ulkü U Department of Obstetrics and Gynecology, University School of Medicine, Rize, - - 2014
Escobar syndrome is characterized with multiple pterygia or webs of the skin and multiple congenital anomalies. We present a 15-year-old patient with Escobar syndrome who complained of persistent blunt abdominal pain for 1 year. Preoperative evaluation confirmed the diagnosis of imperforate hymen, and the patient underwent hymenectomy under intravenous sedation. ...
Zollo L L Laboratory of Biomedical Robotics and Biomicrosystems, Università Campus Bio--Medico, Rome, Italy - l.zollo@unicampus.it - - 2014
Ankle--Foot--Orthoses (AFOs) are frequently prescribed for hemiparetic patients to compensate for the foot drop syndrome. However, there is no a systematic study on the effectiveness of AFOs in the gait recovery process and pointing out the therapeutic differences among the various types of AFOs available on the market. To perform ...
Meers Stef S AZ KLINA, Iridium Cancer Network, - - 2014
Myelodysplastic syndromes are a heterogeneous group of clonal haematological stem cell disorders. Allogeneic stem cells transplantation remains the only curative treatment but only a minority of patients are eligible for this treatment. In spite of this, it has become clear that treatment with lenalidomide and azanucleotides can lead to increased ...
Mousa Albeir Y AY Vascular Center of Excellence, Department of Surgery, Robert C. Byrd Health Sciences Center, West Virginia University, Charleston, USA - - 2014
All pathologies of acute aortic syndromes should be precisely diagnosed for prompt therapy. Intramural hematomas, as well as penetrating ulcers can be encountered in these patients. Presentations, clinical scenarios, and proper management are outlined in this review, which sums up available current literature to provide the vascular specialist with an ...
Xie Zhihui Z Laboratory of Allergic Diseases, NIAID/NIH, Bethesda, MD - - 2014
The Systemic Capillary Leak Syndrome is a highly rare disorder of unknown etiology. The disease is characterized by episodes of transient vascular collapse, which leads to hypotensive shock and anasarca. Previous treatment of this potentially devastating condition has been largely ineffective. We evaluated IVIG prophylactic therapy in a cohort of ...
Celentano Antonio A Dr. Celentano is a doctoral student, Department of Neurosciences, Reproductive and Odontostomatological Sciences, Faculty of Medicine and Surgery, University of Naples Federico II, Via Pansini no. 5, Naples 80131, Italy, e-mail antony.celentano@gmail.com.Address correspondence to Dr. - - 2014
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). The authors present a case series involving patients with characteristic periodontal features. The authors assessed three patients, two of whom already had ...
Stokes Michael B MB Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, - - 2014
Focal segmental glomerulosclerosis (FSGS) comprises a group of clinical-pathologic syndromes characterized by heavy proteinuria and segmental obliteration of glomerular capillaries by extracellular matrix. FSGS lesions display morphologic heterogeneity with respect to their relationship to the glomerular vascular and tubular poles, the presence of capillary collapse, and endocapillary and extracapillary hypercellularity. ...
Treadwell Amy A Carolina Veterinary Specialists, Charlotte, NC, - - 2014
To characterize the clinical, diagnostic, and histopathologic findings in dogs with canine ocular gliovascular syndrome (COGS). The archives at the Comparative Ocular Pathology Laboratory of Wisconsin (COPLOW) were used to identify eyes with COGS. Histopathological inclusion criteria included: a neovascular membrane extending from the optic nerve head or retina, clusters ...
Yu Siegfried W B SW Division of Gastroenterology and Hepatology, Medical College of Georgia, Georgia Regents University, Augusta, GA, - - 2014
Constipation-predominant irritable bowel syndrome (IBS-C) is a commonly prevalent and clinically challenging disorder to treat. Until recently, most therapeutic agents had limited ability to address the complexity of symptoms inherent to the syndrome. The development of linaclotide provides a physiologically sound approach to treatment of the multiple symptoms of IBS-C. ...
Inokuchi Ryosuke R Department of Gastroenterology and Hepatology, Kansai Medical - - 2014
A woman in her 40s presented at our department with abdominal fullness. Abdominal computed tomography showed hepatomegaly and ascites, and gastrointestinal endoscopy showed esophageal varices. A diagnosis of Budd-Chiari syndrome (BCS) was confirmed by percutaneous hepatic venography, which detected obstruction of the main hepatic vein. It was treated using percutaneous ...
Latt N N Northern Sydney Drug and Alcohol Service, Royal North Shore Hospital, Sydney, New South Wales, - - 2014
Wernicke encephalopathy is an acute, reversible neuropsychiatric emergency due to thiamine deficiency. Urgent and adequate thiamine replacement is necessary to avoid death or progression to Korsakoff syndrome with largely irreversible brain damage. Wernicke Korsakoff syndrome refers to a condition where features of Wernicke encephalopathy are mixed with those of Korsakoff ...
Budinčević Hrvoje H Hrvoje Budinčević, MD, PhD, Stroke and Intensive Care Unit Department of Neurology , "Sveti Duh" University Hospital , Sveti Duh 64 , HR-10000 Zagreb, Croatia; - - 2014
We report on the case of a 32-years old male patient who was previously diagnosed with Gorlin-Goltz syndrome. The patient presented with sudden-onset right-sided hemiparesis, supranuclear facioparesis, and motor aphasia. He was treated with thrombolytic therapy, which successfully alleviated the symptoms. Subsequent radiologic work-up revealed anomalies in the vertebral arteries, ...
Anić Branimir - - 2014
Although the SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome was defined as a distinct entity more than 20 years ago, its classification within the spectrum of inflammatory rheumatic diseases and the proper therapeutic approach are still a matter of debate. We present four patients diagnosed with the SAPHO syndrome treated ...
Sales Rita - - 2014
Psoriasis is a chronic, systemic inflammatory disease associated with several cardiometabolic comorbidities, such as obesity, insulin resistance, dyslipidemia, and hypertension, and with clinically significant increased risk of cardiovascular disease and cardiovascular mortality. These comorbidities are components of the metabolic syndrome. Multiple epidemiologic studies have revealed a high prevalence of metabolic ...
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