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Achelrod Dmitrij - - 2014
Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the costs of Marfan syndrome from a sickness fund and societal ...
Shapiro Carl M CM Tri-State Spine and Neuromuscular Associates, 10475 Montgomery Road, Suite 1J, Cincinnati, OH 45242, USA. Electronic address: - - 2014
This article describes the costs and risk factors for failed back surgery syndrome and reviews the diagnosis and treatment strategies commonly used to address this syndrome. The purpose of this review is to describe some of the treatment pitfalls associated with these approaches from a physiatric perspective.
Pehlivan Davut D Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, - - 2014
Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report ...
Yeo Siaw Ing - - 2013
Gout is a common condition which is mainly treated with the hypo-uricemic agent, allopurinol. Although allopurinol is generally a well-tolerated drug, there is a small risk of developing potentially fatal complications, such as allopurinol hypersensitivity syndrome. Recent advances in pharmacogenomics have made possible the identification of genes which confer susceptibility ...
Gorgas Stephen S Department of Pediatrics and Communicable Diseases, University of Michigan Medical School , Ann Arbor, - - 2013
We present a case of hyperimmunoglobulin E (hyper-IgE) syndrome in a three year old boy. There are many pitfalls in diagnosing this disease in the very young population, mainly due to the ambiguity of some diagnostic criteria in this population. Recognizing this syndrome early in life can potentially be very ...
Stofanko Martin - - 2013
Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that we have called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR). Our procedure is based on the finding of genomic ...
Burwick R M RM Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. - - 2013
Severe preeclampsia with hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome is a leading cause of maternal and neonatal morbidity and mortality worldwide. Occurrence at an extremely premature gestational age is most challenging as there are dichotomous imperatives: delivery as definitive therapy for maternal health vs. prolongation of pregnancy ...
Siddique Laila - - 2012
Sturge-Weber syndrome has been found to result in hypothalamic-pituitary dysfunction including central hypothyroidism. Because central hypothyroidism is more prevalent in Sturge-Weber syndrome than in the general population, we routinely evaluated thyroid function. Here we describe 5 children with Sturge-Weber syndrome on anticonvulsants and diagnosed with hypothyroidism based on thyroid function ...
Chhabra Avneesh A Russell H Morgan Department of Radiology & Radiological Science, Johns Hopkins University Hospital, Baltimore, MD, USA. - - 2013
This CORR Insights is a commentary on the article ''Ultrasound as a first line test in the diagnosis of carpal tunnel syndrome: a cost effectiveness analysis" by John R Fowler and colleagues available at DOI 10.1007/s11999-012-2662-3 .
Chang Shan-Yueh - - 2012
Objective: To report a case of invasive pulmonary aspergillosis mimicking lung cancer with lung to lung metastases in ectopic adrenocorticotropic hormone syndrome (EAS). Clinical Presentation and Intervention: A 60-year-old man suffering from hypokalemic alkalosis, hypertension and limbs paralysis was referred to our hospital. EAS caused by malignancy of lung was ...
Jankowich Matthew D - - 2012
There is increasing clinical, radiologic, and pathologic recognition of the coexistence of emphysema and pulmonary fibrosis in the same patient, resulting in a clinical syndrome known as combined pulmonary fibrosis and emphysema (CPFE) that is characterized by dyspnea, upper-lobe emphysema, lower-lobe fibrosis, and abnormalities of gas exchange. This syndrome frequently ...
King P - - 2011
Down syndrome (DS) is strongly associated with pulmonary hypertension, but there are many causes requiring a multi-disciplinary approach to the problem. Nearly half of children with DS have upper airway obstruction and the same proportion have congenital heart disease, both of which may cause pulmonary hypertension. Additional problems include pulmonary ...
Dyhdalo Kathryn - - 2011
Marfan syndrome is one of the most common connective tissue diseases and may manifest with a range of symptoms and pathologic changes. We present a retrospective series of 5 cases of patients with Marfan syndrome and pulmonary pathology. Patients were young to middle-aged adults with absent or minimal smoking histories ...
Szczawinska-Poplonyk Aleksandra - - 2011
Abstract Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). The authors report the ...
Swarnam Kamala - - 2012
Meconium aspiration syndrome (MAS) is a common cause of severe respiratory distress in term infants, with an associated highly variable morbidity and mortality. MAS results from aspiration of meconium during intrauterine gasping or during the first few breaths. The pathophysiology of MAS is multifactorial and includes acute airway obstruction, surfactant ...
Wilcox M Elizabeth - - 2011
Recent studies have begun to describe the long-term outcomes of acute respiratory distress syndrome (ARDS) survivors. These patients experience a number of physical, mental and psychological morbidities that significantly impair their health-related quality of life (HRQL). The trajectory of pulmonary recovery in survivors of ARDS, as it relates to lung ...
Gillen P - - 2011
Acute respiratory distress syndrome is a severe form of respiratory failure characterized by acute onset of significant hypoxaemia (PaO2:FiO2<200mmHg) with diffuse bilateral pulmonary air-space shadowing on chest X-ray, without clinical signs of heart failure (Bernard et al, 1994). It has a heterogeneous aetiology with wide-ranging pulmonary and extra-pulmonary causes.
Roig Ingrid L - - 2011
Hantavirus is known to cause 2 distinct clinical syndromes: hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome. Seoul virus is an Old World hantavirus known to cause HFRS. We report a case attributed to domestically acquired Seoul hantavirus with prominent pulmonary involvement and a fatal outcome.
Nair Girish B - - 2011
Eosinophilic pneumonia is characterized by cough, lung infiltrates on imaging, and by the presence of eosinophils in the alveoli and pulmonary interstitium. Azacitidine, a pyramidine nucleoside analogue of cytidine, is FDA approved for the treatment of various myelodysplastic syndromes. We present a case of a 76 year-old man with recently ...
Natali Delphine - - 2011
We report a case of pulmonary arterial hypertension (PAH) occurring in a patient with Cowden syndrome with a mutation in the phosphatase and tensin (PTEN) tumor suppressor gene, in the context of exposure to the appetite suppressant dexfenfluramine. Anorexigen exposure is known to be a risk factor for PAH. However, ...
Armien Blas - - 2011
During 2001-2007, to determine incidence of all hantavirus infections, including those without pulmonary syndrome, in western Panama, we conducted 11 communitywide surveys. Among 1,129 persons, antibody prevalence was 16.5%-60.4%. Repeat surveys of 476 found that patients who seroconverted outnumbered patients with hantavirus pulmonary syndrome by 14 to 1.
Korurek Mehmet - - 2011
Background: In this study, we aim to investigate the simulation of the cardiovascular system using an electronic circuit model under normal and pathological conditions, especially the Eisenmenger syndrome. Methods and Results: The Eisenmenger syndrome includes a congenital communication between the systemic and pulmonary circulation, with resultant pulmonary arterial hypertension and ...
Befort Patrice - - 2011
Abstract Pulmonary tuberculosis can lead to acute respiratory distress syndrome (ARDS) even in the absence of superinfection, and this condition requires mechanical ventilation. We describe herein the characteristics and outcomes of 8 patients with this association hospitalized in a French teaching hospital between 1997 and 2006.
Huang Shu-Chien - - 2011
The association of hypoplastic left heart syndrome with valvular pulmonary stenosis is rare and is not well-described in the literature. Here we describe the experience of Norwood stage one reconstruction in an infant with hypoplastic left heart syndrome and significant pulmonary stenosis. The baby was successful palliated and stage II ...
Ali Korkmaz Askin - - 2011
Abstract  Scimitar syndrome, or pulmonary venolobar syndrome, is a rare congenital anomaly, in which all the right pulmonary veins drain into the inferior vena cava. In this study, we review the diagnostic features, clinical management, and surgical strategy in the Scimitar syndrome and discuss the significance of new generation diagnostic ...
Gurgun Alev - - 2011
A 45-year-old man presented with dyspnea on exertion, fatigue, and cough. Transthoracic echocardiography showed a large apical thrombus in the left ventricle. The laboratory results showed prominent eosinophilia on blood smear, elevated acute phase reactants and D-dimer serum levels. Bone marrow examination showed a Fip1-like platelet-derived growth factor receptor alfa ...
Park Eugene - - 2011
Primary Sjögren syndrome (pSS) is an autoimmune disease that is characterized by infiltration of lymphocytes in exocrine glands, followed by hypofunction of the glands. Dry mouth and eyes are main symptoms, but there are various extraglandular manifestations in pSS. Nine to 75% of patients have pulmonary involvement such as interstitial ...
D'Alto Michele - - 2011
BACKGROUND: Oral bosentan is effective in pulmonary arterial hypertension (PAH) related to congenital heart disease (CHD). In patients with Down's syndrome, the effect of bosentan is largely unknown. Aim of the study was to evaluate the long-term effects of bosentan in adult patients with CHD-related PAH with and without Down's ...
Raghavendran Krishnan - - 2011
This article examines exogenous lung surfactant replacement therapy and its usefulness in mitigating clinical acute lung injury (ALI) and the acute respiratory distress syndrome (ARDS). Surfactant therapy is beneficial in term infants with pneumonia and meconium aspiration lung injury, and in children up to age 21 years with direct pulmonary ...
McCabe Colm - - 2011
Pulmonary-renal syndromes are a group of disorders characterised by necrotising glomerulonephritis and pulmonary haemorrhage. Small vessel systemic vasculitis is the most common cause of pulmonary-renal syndromes presenting to respiratory physicians. Rarer causes include systemic lupus erythematosus and connective tissue diseases though severe pneumonia or cardiac failure may mimic their presentation. ...
Sanders Jan-Stephan F - - 2011
Pulmonary-renal syndrome is a potentially life-threatening combination of pulmonary hemorrhage and acute renal failure. Several pathological entities can cause this syndrome. This review discusses the diagnostic strategy required to initiate appropriate therapy. Rapid serological testing and appropriate interpretation can be of great additive diagnostic value. Also discussed are the pathogenesis, ...
Lamour C - - 2011
Non-infectious pulmonary complications of myelodysplastic syndromes and chronic myeloproliferative disorders are not rare but remain little known to respiratory physicians who may be confronted with various clinical pictures corresponding to different pathophysiological causes. The few data in the literature only relate to isolated cases or small series. The non-infectious pulmonary ...
Suvrathan Aparna - - 2011
Fragile X syndrome (FXS) is the most commonly inherited form of mental impairment and autism. Current understanding of the molecular and cellular mechanisms underlying FXS symptoms is derived mainly from studies on the hippocampus and cortex. However, FXS is also associated with strong emotional symptoms, which are likely to involve ...
Fehr Stephanie - - 2011
The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used ...
Dillman Jonathan R - - 2011
Unilateral hyperlucent hemithorax is a common pediatric chest radiographic finding that may also be seen at computed tomography. It may result from congenital or acquired conditions involving the pulmonary parenchyma, airway, pulmonary vasculature, pleural space, and chest wall, as well as from technical factors such as patient rotation. Unilateral hyperlucent ...
Hudetz Judith A - - 2011
Vascular risk factors, including metabolic syndrome, are known to contribute to the development of cognitive dysfunction. We tested the hypothesis that patients with metabolic syndrome are more likely to develop cognitive dysfunction after noncardiac surgery. Age- and education-balanced patients (n = 60) undergoing elective noncardiac surgery with and without metabolic ...
Bussy G - - 2011
Background  Procedural learning refers to rule-based motor skill learning and storage. It involves the cerebellum, striatum and motor areas of the frontal lobe network. Fragile X syndrome, which has been linked with anatomical abnormalities within the striatum, may result in implicit procedural learning deficit. Methods  To address this issue, a ...
Koshy Beena - - 2011
18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on verbal ...
de Vries Willemien - - 2011
We present the case of an 11-year-old boy presenting with haemoptysis, dyspnoea and weight loss as a manifestation of isolated pulmonary vasculitis, leading to pulmonary hypertension. He also appeared to have a longstanding dural venous sinus thrombosis. This rare presentation, especially in childhood, might represent a case of the seldomly ...
Estigarribia Bruno - - 2011
We examined recalled narratives of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD; N=28) and without ASD (FXS-O; N=29), and compared them to those of boys with Down syndrome (DS; N=33) and typically developing boys (TD; N=39). Narratives were scored for mentions of macrostructural Story Grammar elements (Introduction, ...
Chong Bai - - 2011
Swyer-James syndrome (SJS) is a rare disease probably resulting from bronchiolitis obliterans. The radiological findings of this entity are characterized by hyperlucent appearance of one or more lobes of a unilateral lung, decreased lung volume, diminished ipsilateral hilar shadow and hardly visible arterial structure on chest radiography. We report a ...
Wada Hiroshi - - 2011
Williams-Campbell syndrome is a rare disease, characterized by a congenital deficiency of cartilage in the fourth to sixth order bronchi, leading to chronic respiratory failure with recurrent pulmonary infections. An effective and practical treatment has not yet been established. A 31-year-old man who was diagnosed as Williams-Campbell syndrome by inspiratory ...
Clark Otávio - - 2011
Myelodysplastic syndrome is an incurable and rare hematological disease that affects the production of blood cells. One aim of treatment is to maintain the blood-cell count to near-normal levels. This is mainly achieved with hematopoietic- growth factors and transfusions. Our objective was to determine the cost of supportive treatment/care for ...
Matthay Michael A - - 2011
A study published in the previous issue of Critical Care demonstrates that measurement of the pulmonary dead-space fraction is superior to hypoxemia as an indicator of a favorable physiologic response to prone positioning in patients with severe acute respiratory distress syndrome. These results add to the growing evidence supporting the ...
Farrow Kathryn N - - 2011
Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. Because of the heterogeneous group of disorders, the therapeutic approach and response often depends on the underlying disease. In many of ...
Mayer Emeran A EA Center for Neurobiology of Stress, Division of Digestive Diseases, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California, USA. - - 2011
The importance of bidirectional brain-gut interactions in gastrointestinal (GI) illness is increasingly recognized, most prominently in the area of functional GI syndromes such as irritable bowel syndrome (IBS), functional dyspepsia, and functional chest pain. The brain receives a constant stream of interoceptive input from the GI tract, integrates this information ...
Mimura Masaru - - 2010
Factors of error and effort in study conditions play a crucial role in the intervention for memory-impaired individuals. In the present study, efficacy of four study conditions was compared in order to elucidate the optimal study conditions: errorless/errorful and effortless/effortful. A total of 18 patients with Alzheimer's disease and 12 ...
Carmier D - - 2010
Respiratory involvement in systemic lupus erythematosus (SLE) is not as well-known as the cutaneous, rheumatological and renal manifestations. It occurs frequently but the diagnosis may be difficult because of the heterogeneity of the anatomical and clinical presentations. A precise diagnosis is crucial as new immunosuppressive drugs have considerably improved the ...
Campos L M A - - 2010
Acute pancreatitis (AP) is a rare and life-threatening manifestation of juvenile systemic lupus erythematosus (JSLE). The objective of this study was to evaluate the prevalence and clinical features of AP in our JSLE population. AP was defined according to the presence of abdominal pain or vomiting associated to an increase ...
Winzer M - - 2010
While there is still no convincing evidence that methotrexate is of benefit in primary Sjögren's syndrome, the SLE evidence on this rheumatology anchor drug is substantial. In fact, there are randomised controlled trials showing the benefit for methotrexate on overall SLE activity, reduction in glucocorticoid doses, and effects on lupus ...
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