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Odom Lawrence N - - 2010
To summarize current evidence in the association of imprinting disorders and assisted reproductive technology. The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at ...
Williams Charles A - - 2010
The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In ...
Kakavas Sotirios - - 2011
Current pharmacotherapy for acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) is not optimal, and the biological and physiological complexity of these severe lung injury syndromes requires consideration of combined-agent treatments or agents with pleiotropic action. In this regard, exogenous erythropoietin (EPO) represents a possible candidate since a ...
Meroni Pier Luigi - - 2011
There has been considerable interest in the role of environmental factors and the induction of autoimmunity and the ways by which they facilitate loss of tolerance. Clearly both genetic and environmental factors are incriminated, as evidenced by the lack of concordance in identical twins and the relatively recent identification of ...
Ranasinghe Aaron M - - 2010
Acute aortic syndromes have an incidence of >30 per million per annum and a high mortality without definitive treatment. Survival may relate to the speed of diagnosis. Although pain is the most common symptom, there is a large fraction of patients in whom the diagnosis may be mistaken or overlooked. ...
Kirshner Howard S - - 2010
Frontotemporal dementias are syndromes of progressive dysfunction of the frontal and/or temporal lobes, either unilaterally or bilaterally. These syndromes were described clinically under the terms "primary progressive aphasia" in the United States and "frontotemporal dementia" in Europe and the United Kingdom. They are diagnosed by the clinical features of a ...
Tessnow Alex H - - 2010
Postpartum necrosis of the anterior pituitary gland is known as Sheehan's syndrome in honor of Harold Leeming Sheehan who characterized the syndrome as the consequence of ischemia after severe puerperal hemorrhage. With advancements of obstetrical care, Sheehan's syndrome has become uncommon except in developing countries. In many affected women, anterior ...
Buggiani Gionata - - 2010
Paraneoplastic syndromes are localized or diffuse pathologic manifestations that may occur in subjects affected by neoplastic diseases, even occult ones. Among the many clinical manifestations of paraneoplastic syndromes, cutaneous ones are quite common. It is estimated that skin manifestations may represent the very first diagnostic sign of a neoplastic disease ...
Zenooz Navid A - - 2010
Patients with noncompaction syndrome of the myocardium may present with cardiac arrhythmia, thromboembolic events, or left ventricular failure. Associations with other diseases, including neurologic or other cardiac syndromes, have been noted. Noncompaction syndrome of the myocardium is primarily diagnosed by echocardiography; however, CT scanning and magnetic resonance imaging are useful ...
Elovaara I - - 2010
The use of high-dose polyclonal intravenous immunoglobulin (IVIG) in the treatment of autoimmune neurological diseases has expanded over the last decade. Based on controlled clinical trials IVIG can be considered currently as the first-line treatment in Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy, and it may be ...
Sun Siguo - - 2011
The Gorham-Stout Syndrome is a rare condition in which spontaneous, progressive resorption of bone occurs. Even though the prognosis of the condition is generally considered to be good, Gorham-Stout syndrome can cause severe debilitation. In approximately 13% of recorded cases, death ensues. The treatment modalities for Gorham-Stout Syndrome include surgery, ...
Sammer Douglas M - - 2010
Ulnar impaction syndrome is a common source of ulnar-sided wrist pain. It is a degenerative condition that occurs secondary to excessive load across the ulnocarpal joint, resulting in a spectrum of pathologic changes and symptoms. It may occur in any wrist but is usually associated with positive ulnar variance, whether ...
Goldstein David S - - 2010
Based on concepts proposed by Langley, Cannon, and Selye, adrenal responses to stress occur in a syndrome that reflects activation of the sympathoadrenal system and hypothalamic–pituitary–adrenocortical (HPA) axis; and a "stress syndrome" maintains homeostasis in emergencies such as "fight or flight" situations, but if the stress response is excessive or ...
Pappa Theodora A - - 2011
The nonthyroidal illness syndrome (NTIS) is a very common clinical entity among hospitalized patients and has been reported in practically every severe illness and acute or chronic stressful event. There is a large body of data associating the presence of NTIS with the severity of the underlying disease. Most of ...
Holmøy Trygve - - 2011
Antibodies against autoantigens involved in GABAergic neurotransmission are a shared feature of the different subtypes of stiff person syndrome (SPS). The autoantigens can be either presynaptic such as the smaller isoform of glutamic acid decarboxylase (GAD65), postsynaptic such as GABA-A receptor-associated protein and gephyrin, or located at the pre- and ...
Braik Tareq - - 2010
INTRODUCTION: Paraneoplastic neurological syndromes (PNS) are uncommon and imperfectly understood and, therefore, are frequently underdiagnosed. METHODS: We review the current literature on the clinical presentation, diagnosis, pathophysiology and treatment of PNS. RESULTS: PNS are a heterogeneous group of neurologic disorders caused by an immune response to an underlying malignancy. A ...
Chai Josiah - - 2010
This review summarizes our current understanding of the neurological manifestations of primary Sjogren's syndrome (PSS), their pathophysiology, and treatment. Prevalence of neurological manifestations in PSS varies widely from 10 to 60%, with pure or predominantly sensory polyneuropathies as the most common neurologic manifestation (e.g. sensory ataxic or small fiber sensory ...
Shah Kara N - - 2010
Café-au-lait, also referred to as café-au-lait spots or café-au-lait macules, present as well-circumscribed, evenly pigmented macules and patches that range in size from 1 to 2 mm to greater than 20 cm in greatest diameter. Café-au-lait are common in children. Although most café-au-lait present as 1 or 2 spots in ...
Ensor Christopher R - - 2010
The heart failure and cardiorenal syndromes are major public health hazards, affecting one in five persons during their lifetime. Alternatives to traditional loop-diuretics, including vasopressin and adenosine A(1) receptor antagonists are now in development. The pathophysiologic rationale for the use of tonapofylline, an intravenous and oral adenosine A(1) receptor antagonist, ...
Bowyer Holly R - - 2010
Guillain-Barre syndrome (GBS) is a syndrome that affects the immune system and attacks the peripheral nervous system. Discussion includes defining GBS as well as its etiology and differential diagnosis. Patients with GBS are not uncommon, and therefore it is important to be educated and to have a more precise understanding. ...
Tormo Mar - - 2010
The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterised by impaired peripheral blood cell production due to bone marrow dysplasia affecting one or more of the major myeloid cell lines. MDS are one of five major categories of myeloid neoplasms according to the World Health Organization (WHO) ...
Marcovitz Pamela A - - 2010
The clinical presentation of Takotsubo syndrome, or apical ballooning syndrome, resembles an extensive anterolateral myocardial infarction with chest pain symptoms and electrocardiographic ST-elevation or T-wave inversion noted in most patients. However, coronary arteries are invariably found to be normal or to display minimal atherosclerotic disease despite modest elevation of cardiac ...
Benjamin-Pratt A R - - 2010
Chronic pelvic pain (CPP) is a common complaint of women presenting for gynecologic and primary care. Evaluation of CPP requires obtaining a careful history including not only obstetrical and gynecologic information but also screening for gastrointestinal, urologic, musculoskeletal, and neurological disorders. A detailed physical examination is also necessary. Management of ...
Strassburg Christian P CP Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany. - - 2010
Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies. Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson, Rotor, and Gilbert-Meulengracht syndromes, which are important differential diagnoses indicating benign disease that require no immediate treatment. Dubin-Johnson and Rotor syndromes are rare, exhibit mixed direct and indirect hyperbilirubinemia as ...
Egan Robert A - - 2010
Susac Syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusion, and hearing loss. It is an autoimmune endotheliopathy that primarily affects young women. Two funduscopic findings, Gass plaques (GP) and arteriolar wall hyperfluorescence (AWH), have recently been described and are not only useful in making the SS ...
Romano Alicia A - - 2010
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% ...
Wüppenhorst Nicole - - 2010
Mucorales (subphylum Mucoromycotina) are well-known agents of invasive mucormycosis, whereas Entomophthorales (subphylum Entomophthoromycotina) are rarely encountered in human diseases in temperate zones. Here we report a fatal case of invasive rhino-orbitocerebral entomophthoramycosis caused by Conidiobolus incongruus in a 78-year-old woman with myelodysplastic syndrome.
Boberg Kirsten Muri - - 2011
Some patients present with overlapping features between disorders within the spectrum of autoimmune liver diseases (i.e. autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC)) and are commonly classified as having an "overlap syndrome". Standardized definitions of "overlap syndromes" are lacking. The aim of this report by ...
Guerriero Silvana - - 2011
Orbital pseudotumor is a benign, idiopathic, non-infectious and non-neoplastic clinical syndrome characterized by the presence of an inflammatory mass at orbital level with no identifiable cause. The disease is rarely observed in the pediatric population. This article describes a relapsing bilateral orbital pseudotumor in a young girl. The diagnostic implications ...
Woods Scott W - - 2010
The American Psychiatric Association Task Force on DSM-5 has recently proposed consideration of Attenuated Psychotic Symptoms Syndrome as a new diagnosis, based on nearly 15 years of prospective research in centers across the globe. The condition is also known as "psychosis risk syndrome," "at-risk mental state," "ultra-high risk," and "putative ...
Mitty Ethel - - 2010
Older adults are at risk for iatrogenesis, especially if they are frail and have 1 or more geriatric syndromes. Iatrogenic events do not occur only in acute care; in nursing homes they affect 65% of residents annually. It is therefore likely that they are occurring in assisted living communities, though ...
Alla Venkata M - - 2010
Effort thrombosis, or Paget-Schroetter Syndrome, refers to axillary-subclavian vein thrombosis associated with strenuous and repetitive activity of the upper extremities. Anatomical abnormalities at the thoracic outlet and repetitive trauma to the endothelium of the subclavian vein are key factors in its initiation and progression. The role of hereditary and acquired ...
Bhansing K J - - 2010
Gout is an acute inflammatory arthritis with the potency to fully destroy the integrity of the joint leading to severe disability. Besides joint destruction, gout is often associated with an accelerated atherosclerosis culminating in an increased risk of cardiovascular disease. The current existing therapy modalities allow an efficient treatment that ...
Mortellaro Carmen - - 2010
Saldino-Mainzer syndrome is part of a group disorders, the conorenal syndromes, that are characterized by cone-shaped epiphyses with chronic renal disease in childhood and are variously associated with retinitis pigmentosa, cerebral ataxia, and/or abnormalities of the proximal epiphyses and femur metaphyses. Saldino-Mainzer syndrome usually has sporadic presentation. The present report ...
Jesus Adriana Almeida - - 2010
To describe the most prevalent pediatric hereditary autoinflammatory syndromes. A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. ...
Weiss Jonathan A - - 2010
Individuals with Asperger syndrome are at increased risk for mental health problems compared with the general population, especially with regard to mood and anxiety disorders. Generic mental health services are often ill-equipped to offer psychotherapeutic treatments to this population, and specialized supports are difficult to find. This case series used ...
Mégarbané André - - 2010
We report on two sibs with an elongated face with reduced expression, microcephaly, strabismus, wide philtrum, mild joint laxity, thumb sign, bilateral foot drop, and fixed pes cavus, absent tendinous reflexes, an unsteady gait, quick fatigue, slightly diminished limb muscle strength more pronounced distally, abnormalities of cranial nerves III, IV, ...
Biteker Murat - - 2010
Inflammatory mediators, adhesion molecules of neutrophils and monocytes, have been shown to be increased in the plasma of patients presenting with acute coronary syndromes. Anaphylaxis is a systemic, immediate hypersensitivity reaction caused by rapid IgE-mediated release of mediators from mast cells and basophils. Kounis syndrome is the coincidental occurrence of ...
Prommer Eric - - 2010
Disorders in which the effects of cancer occur at a site remote from the primary tumor are termed paraneoplastic disorders. The most well- known paraneoplastic disorder affecting the neuromuscular junction is the Lambert-Eaton myasthenic syndrome (LEMS). We describe a case of the Lambert-Eaton myasthenic syndrome diagnosed in a patient with ...
Klibanski Anne - - 2010
The Endocrine Tumor Summit convened in December 2008 to address 6 statements prepared by panel members that reflect important questions in the treatment of acromegaly and carcinoid syndrome. Data pertinent to each of the statements were identified through review of pertinent literature by one of the 9-member panel, enabling a ...
Kurozawa Youichi - - 2010
Current perception threshold (CPT) has been proposed as a quantitative method for assessment of peripheral sensory nerve function. The aim of this review of selected reports is to provide an overview of CPT measurement for the assessment of the neurological component of hand-arm vibration syndrome (HAVS). The CPT values at ...
Pinkhardt Elmar H - - 2011
Oculomotor abnormalities can be observed in all Parkinsonian syndromes (PS). Nevertheless, due to the considerable overlap of oculomotor pathology in Parkinsonism, oculomotor changes are not generally considered to contribute substantially to the differential diagnosis of PS. Here we review the characteristics of oculomotor disturbances in the major PS, we provide ...
Krähenmann Rainer - - 2010
The case of a schizoaffective patient suffering from a malignant catatonic syndrome following combined lithium-risperidone therapy is explored. A case report and relevant deliberations regarding pathophysiology of the catatonic dilemma are discussed. There are two critical transitions in the development of a malignant catatonic syndrome. Dopaminergic system and psychopharmacological factors ...
Trimble Michael - - 2010
Postictal psychoses represent a considerable clinical challenge and are often unrecognized. In this review, the clinical features of the syndromes and the underlying biological foundations, as revealed through EEG and imaging studies, are discussed. It is concluded that although the syndrome can be well recognized, it is not acknowledged in ...
Charmandari Evangelia - - 2010
Glucocorticoids regulate a broad spectrum of physiologic functions and play important roles in resting and stress homeostasis. Their actions are mediated by the nuclear glucocorticoid receptor (GR). Using a patient as a stimulus, we reviewed briefly the area of Primary Generalized Glucocorticoid Resistance in man and nonhuman primates. In man, ...
Shoenfeld Yehuda - - 2011
The role of various environmental factors in the pathogenesis of immune mediated diseases is well established. Of which, factors entailing an immune adjuvant activity such as infectious agents, silicone, aluminium salts and others were associated with defined and non-defined immune mediated diseases both in animal models and in humans. In ...
Al-Qattan M M - - 2011
The various Wnt pathways that are related to upper limb anomalies are reviewed. Abnormalities in the Wnt7a pathway (located in the dorsal ectoderm) produce several clinically relevant conditions such as the palmar duplication syndrome, nail patella syndrome, ulnar ray deficiency, limb hypoplasia, polysyndactyly and the palmar nail syndrome. Abnormalities of ...
Garofalo Raffaele - - 2010
Internal impingement syndrome is a painful shoulder condition related to the impingement of the soft tissue, including the rotator cuff, joint capsule and the long head of the biceps tendon and glenoid labrum. Two types of internal impingement syndrome can be differentiated: posterior-superior impingement and anterior-superior impingement (ASI). The aetiology ...
Deroo Scott - - 2010
Much research in venous thrombotic diseases focuses on the acute thrombotic process such as anticoagulation and risk factors. Deep-vein thrombosis directly leads to post thrombotic syndrome, and this can cause significant patient disability. Little research has focused on the vein wall injury response to the thrombotic inflammatory insult. Herein, we ...
Vukicevic Meri - - 2010
Charles Bonnet syndrome (CBS) is a disorder in which psychologically normal people, often with vision impairment, experience complex visual hallucinations. The hallucinations are purely visual and do not occur in any other sensory modality, and people with CBS have full insight into the unreal nature of the hallucinations. This report ...
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