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Frizzola Meg A - - 2011
We report a case of Lemierre syndrome secondary to Streptococcus pyogenes in a 22-month-old girl. This case report and literature review took place at a pediatric intensive care unit at a freestanding tertiary children's hospital. Diagnosis occurred after the discovery of left internal jugular thrombus and multiple metastatic infection sites ...
Merino Paulina M - - 2011
Polycystic ovarian syndrome (PCOS) is a lifelong disorder characterized by hyperandrogenism and ovulatory dysfunction, with a wide spectrum of clinical symptoms and signs. Three different sets of diagnostic criteria have been established in order to define this disease in adult women, but there is controversy regarding the use of these ...
Huang Shiang-Fen - - 2011
Scimitar syndrome is a rare congenital heart disease. It is divided into subgroups of infantile, adult, and multiple cardiac and extracardiac malformation. Most patients are diagnosed during infancy and occasionally in adolescence, but very few patients are older than 20 years of age, and only some cases have severe symptoms ...
Baxley Elizabeth G - - 2011
We present a satirical case report of a new syndrome, called "plan do study act-attention deficit hyperactivity disorder," or PDSA-ADHD. This syndrome is associated with the implementation of multiple simultaneous plan-do-study-act cycles as a quality improvement approach in a health care setting. This case represents a clinical warning sign of ...
Farzin Faraz F Department of Psychology, University of California, Davis, CA 95616, USA. - - 2011
Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the brain. The goal ...
Jang Eun Joo - - 2011
Milia-like idiopathic calcinosis cutis (MICC) is characterized by smooth, firm, whitish papules resembling milia. Histologically, it appears as a well-defined, round, basophilic nodule within the upper dermis. Although the etiology and treatment remain unclear, it may resolve spontaneously. Some cases have been associated with Down syndrome, and the mean age ...
Mishra Sunil N - - 2011
Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The syndrome consists of a classic triad of anaesthesia, paraesthesia, and a secondary persistent or recurrent facial ulceration. We describe a 60 year-old woman who developed this ...
Chebbo Ahmad - - 2011
The hypoventilation syndromes represent a variety of disorders that affect central ventilatory control, respiratory mechanics, or both. Obesity hypoventilation syndrome is a clinically important disorder with serious cardiovascular and metabolic consequences if unrecognized. Hypoventilation in asthma and COPD is caused by mechanical challenges imparted by airflow obstruction and increase in ...
Sabbagh Marwan N MN The Cleo Roberts Center for Clinical Research, Banner Sun Health Research Institute, 101515 W Santa Fe Dr, Sun City, AZ 85351, USA. - - 2011
Down syndrome appears to be associated with a virtually certain risk of fibrillar amyloid-β (Aβ) pathology by the age of 40 and a very high risk of dementia at older ages. The positron emission tomography (PET) ligand florbetapir F18 has been shown to characterize fibrillar Aβ in the living human ...
Liu Yang - - 2012
Nutcracker syndrome results from left renal vein compression by the abdominal aorta and the superior mesenteric artery. The consecutively increased renal venous pressure results in hematuria, proteinuria, flank pain, left-sided varicocele, pelvic congestion, and others. We report a 25-year-old man with nutcracker syndrome who underwent successful left renocaval venous bypass ...
Andresen Viola - - 2011
Irritable bowel syndrome is characterized by chronic abdominal symptoms and irregular bowel movements without any cause than can be revealed by routine diagnostic assessment. In recent years, its pathophysiology has come to be much better understood, and new therapeutic approaches have been developed. These advances were taken into consideration and ...
Tekaya Raoudha - - 2011
Background : The thoracic outlet syndrome (TOS) is recognized as a cause of upper limb pain. It is often under-diagnosed and its frequency under-estimated by rheumatologists. Aim: To report the diagnostic problems related to TOC though a literature review Methods: A narrative review of literature Results: The diagnosis of TOS ...
Hooper Ashley N - - 2011
Four small-breed dogs were diagnosed with acquired Fanconi syndrome. All dogs ate varying amounts of chicken jerky treats. All dogs were examined for similar clinical signs that included, but were not limited to, lethargy, vomiting, anorexia, diarrhea, and altered thirst and urination. The quantity of chicken jerky consumed could not ...
Porcel José M - - 2011
Bilateral pleural effusions usually have a single causative factor, such as heart failure or malignancy. Contarini's syndrome refers to the occurrence of bilateral pleural fluid accumulation which can be explained by a different cause for each side. Literature search finds, along with 5 new descriptions from our center, totaled 12 ...
Welander Jenny - - 2011
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel ...
Takahashi Hidetoshi - - 2011
Psoriasis is a chronic inflammatory and immune-mediated disease associated with several comorbidities, such as obesity, hypertension, diabetes mellitus, dyslipidemia and cardiovascular disorder. These comorbidities are components of metabolic syndrome. The pathogenesis of metabolic syndrome is supposed to be related to increased levels of adipocytokines, such as tumor necrosis factor-α (TNF-α) ...
De Souza Rebecca A G - - 2011
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome Lindhurt, Marjorie J. et all The New England Journal of Medicine 2011; 365:611-9.
Corgosinho Flavia Campos - - 2011
Obesity is a chronic inflammatory disease and is considered a risk factor for metabolic syndrome. In this study, 57 obese adolescents with and without metabolic syndrome underwent 1 year of weight loss therapy. At baseline, the metabolic syndrome (MS) patients presented higher values of PAI-1 than the non-metabolic syndrome patients (n-MS). ...
Joe Soo Geun - - 2011
We report the first case of Susac syndrome in Koreans, in a 23-yr-old female patient who presented with sudden visual loss and associated neurological symptoms. Ophthalmic examination and fluorescein angiography showed multiple areas of branch retinal artery occlusion, which tended to recur in both eyes. Magnetic resonance imaging showed dot-like, ...
Reidy M - - 2012
2-5% of patients undergoing hip or knee arthroplasty develop a symptomatic DVT; there is evidence to suggest that without prophylaxis 40-60% of patients have a subclinical DVT. This can be reduced by around half with appropriate thromboprophylaxis; there still remains a significant incidence of subclinical DVT. Therefore, it is important ...
De Smet Hyo Jung - - 2011
The posterior fossa syndrome (PFS) consists of transient cerebellar mutism, cognitive symptoms and neurobehavioural abnormalities that typically develop in children following posterior fossa tumour resection. Although PFS has been documented in more than 350 paediatric cases, reports of adult patients with a vascular aetiology are extremely rare. In addition, the ...
- - 2011
The Tumor Lysis Syndrome Correspondence, N Engl J Med 2011;365:571-574. In the first letter, from Elinoff et al. (page 571), the fourth sentence should have read, "He subsequently had acute intravascular hemolysis, with the hemoglobin level decreasing from 13.1 to 4.5 g per deciliter . . . ," rather than ". . . from ...
Cubeddu Luigi X - - 2011
Abstract Objective: The aim of this study was to determine if an increasing number of traits of metabolic syndrome was associated with an increased severity of each of the traits. Methods: A cohort of otherwise healthy 387 Latin-American subjects was evaluated for traits of metabolic syndrome according to National Cholesterol ...
Blaser Martin J - - 2011
Beginning in early May 2011, northern Germany was the principal site of a massive epidemic of bloody diarrhea and the hemolytic-uremic syndrome caused by Shiga-toxin-producing Escherichia coli. By the time the outbreak ended in early July, there were reports of more than 4000 illnesses, 800 cases of the hemolytic-uremic syndrome, ...
Nathan Senthil T - - 2012
The purpose of this study was to systematically review the available evidence on lumbar paraspinal compartment syndrome with specific reference to patient demographics, aetiology, types, diagnosis, clinical features, and treatment. This was an Institutional Review Board-exempt study performed at a Level 1 trauma center. A PubMed search was conducted with ...
Schneider Susanne A SA Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany. - - 2012
In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have ...
Stenczer Balázs - - 2011
BACKGROUND: Preeclampsia is characterised by an imbalance of circulating pro- and anti-angiogenic factors. The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP) develops mostly on the ground of preeclampsia, and one of its important features is the severe disturbance of the coagulation system, intravascular coagulopathy. Thrombospondin-1 (TSP-1) ...
Hunter Michael P - - 2011
Intersectin 1 (ITSN1) is a human chromosome 21 (HSA21) gene product encoding a multidomain scaffold protein that functions in endocytosis, signal transduction, and is implicated in Down's syndrome, Alzheimer's Disease, and potentially other neurodegenerative diseases through activation of c-Jun N-terminal kinase. We report for the first time that ITSN1 proteins ...
Rashid Lewis - - 2012
Pancreatectomy affects gastrointestinal (GI) symptoms. Our purpose was to assess the quality of life of pancreatectomy patients in relation to GI function. Pancreatectomy patients were asked qualitative, open-ended questions about symptoms. They also completed the Gastrointestinal Symptom Rating Scale (GSRS) for reflux syndrome, acute pain syndrome, indigestion syndrome, diarrhoea syndrome ...
Grover Sandeep - - 2011
PURPOSE: To study the prevalence of metabolic syndrome in patients with bipolar disorder. MATERIAL AND METHOD: By using purposive random sampling 200 patients with bipolar disorder receiving treatment were evaluated for presence of metabolic syndrome using International Diabetes Federation (IDF) and modified National Cholesterol Education Program Adult Treatment Panel III ...
O'Connell David - - 2011
Abstract Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage.We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical ...
Wit Jan M - - 2011
Aromatase, an enzyme located in the endoplasmic reticulum of estrogen-producing cells, catalyzes the rate-limiting step in the conversion of androgens to estrogens in many tissues. The clinical features of patients with defects in CYP19A1, the gene encoding aromatase, have revealed a major role for this enzyme in epiphyseal plate closure, ...
Aktas Zeynep - - 2011
PURPOSE:: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment. METHODS:: Case report. RESULTS:: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral pigmentary retinopathy and total cupping of optic discs were ...
Jung Kyu Dong - - 2011
Although periorbital edema is a common manifestation of dermatomyositis (DM), generalized subcutaneous edema associated with DM is extremely rare. Evans syndrome is an autoimmune disease in which an individual's antibodies attack one's own red blood cells and platelets. Evans syndrome is rarely a presenting feature of DM. DM has been ...
Panigrahi Inusha - - 2011
Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical ...
Phukan Julie J Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, - - 2011
The dystonias are a heterogeneous group of hyperkinetic movement disorders characterised by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Dystonia syndromes represent common movement disorders and yet are often misdiagnosed or unrecognised. In recent years, there have been substantial advances in the understanding of the ...
Sobral Samanthado Prado - - 2011
Abstract Objective: To describe oral manifestations in Brazilian individuals with Kabuki Syndrome (KS), a multiple congenital anomaly/mental retardation syndrome. Study design: Sixteen KS individuals aged between 8 to 24 years of both sexes were referred by the Department of Clinical Genetics, for oral treatment and follow-up, to the Oral Care ...
Setijowati E D - - 2011
We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of ...
Santonja Carlos - - 2011
Papular-purpuric "gloves and socks" syndrome is a distinctive dermatosis featuring acral pruritus, edema, and petechiae. It has been attributed in most-but not all-reported cases to Parvovirus B19 infection, on the grounds of serological proof of recent infection or detection of viral DNA by polymerase chain reaction in patient serum or ...
Basu P Patrick PP Gastroenterology, Hepatology, and Liver Transplant, Columbia University College of Physicians and Surgeons, New York, NY 10032, United States. - - 2011
To determine the prevalence of restless legs syndrome (RLS) in patients with irritable bowel syndrome (IBS). Patients with diarrhea-predominant IBS (n = 30), constipation-predominant IBS (n = 30), or mixed-symptom IBS (n = 30) were recruited from the community between March 2008 and February 2009. Rifaximin 200 mg three times ...
Pelegrín Laura - - 2012
Bilateral ocular ischemic syndrome and ischemic optic neuropathy have rarely been reported as initial manifestations of Takayasu arteritis (TA). Appearance of ocular symptoms in TA is related to the extent and severity of involvement of the aorta and its major branches. We report a case of bilateral ocular ischemic syndrome ...
Mathew Robert - - 2011
IntroductionThere are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge).Patient and methodsThe authors first compared the three criteria for overlap and differences, and then applied them ...
Yoshino Jun J Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, - - 2011
In this issue of Molecular Cell, Hirschey et al. demonstrate that loss of the NAD(+)-dependent deacetylase SIRT3 and resultant mitochondrial protein hyperacetylation play a critical role in the pathogenesis of metabolic syndrome, providing new insights into the therapeutic potential of SIRT3.
Anar Ceyda - - 2011
Objective: To report a case of Churg-Strauss syndrome who had asthma and allergic rhinitis treated with montelukast. Clinical Presentation and Intervention: A nonsmoking 59-year-old woman presented with fever, hemoptysis and dyspnea. Past medical history included allergic rhinitis and asthma which were diagnosed 18 years ago. The asthma was treated successfully ...
Uihlein Lily C - - 2011
  The objective of this study was to describe the clinical features of Sweet syndrome in children. Our study population consisted of seven children diagnosed with Sweet syndrome over a 22-year period. Age, sex, appearance and location of lesions, associated signs and symptoms, past medical history, pathology, and subsequent disease ...
Lazic Tamara - - 2011
  Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A ...
Shah Krati - - 2011
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and ...
Trufant Joshua W - - 2011
Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been ...
Kitsiou-Tzeli Sophia - - 2011
The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication syndrome demonstrated a critical region involving at least six genes, including STH and MAPT. The 17q21.31 microdeletion syndrome has an incidence of ...
de Jong T - - 2012
Brain abnormalities in patients with syndromic craniosynostosis can either be a direct result of the genetic defect or develop secondary to compression due to craniosynostosis, raised ICP or hydrocephalus. Today it is unknown whether children with syndromic craniosynostosis have normal brain volumes. The purpose of this study was to evaluate ...
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