Search Results
Results 301 - 350 of 1816
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Cohn Heather Irina - - 2010
Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N terminus of the alpha3 chain of LM332. Although LOC syndrome is now ...
Salem Reda - - 2010
The recent European Society of Cardiology (ESC) guidelines delineate the diagnosis and management of distinct categories of acute heart failure syndromes. However, physicians dealing with these patients may need guidance in choosing therapeutic alternatives as soon as the dyspneic patient arrives at the emergency department, until distinct categories of the ...
Lu-Emerson Christine - - 2010
Hypoxic-ischemic brain injury (HI-BI) after cardiac arrest commonly results in neurological injury and long term dysfunction, with outcomes ranging from coma and vegetative states to functional disability with various degrees of dependence. Increased rates of bystander CPR and cardiac defibrillation has led to a rapid increase in successful resuscitations. Patients ...
Shankland Wesley E WE - - 2010
It is not uncommon for practitioners who treat craniofacial pain to see patients with undiagnosed throat and submandibular pain. Usually, these patients will already have been seen by their primary care physician and frequently, several others doctors including otolaryngologists, oral and maxillofacial surgeons, and even neurologists. Far too often these ...
Zarchi Omer - - 2010
Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to sounds (hyperacusis) and extreme fear from sounds (phonophobia). In spite of impairments in ...
Aminzadeh Majid - - 2010
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a number of rare syndromes, where unlike idiopathic (isolated) HH, other endocrinopathies may also be apparent. The presence of a particular spectrum of clinical features in addition to HH may suggest a particular underlying diagnosis. Placing ...
Eddy Clare M - - 2010
Core symptoms of Tourette's syndrome are assumed to result from inhibitory dysfunction, which could also impair theory of mind. Here the authors report evidence for theory of minddifficulties: patients exhibit deficits in recognizing faux pas and understanding intentionality.
Kim Jenny J - - 2010
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births ...
Scott Bart L - - 2010
Myelodysplastic syndromes (MDS) represent a collection of stem cell disorders characterized by impaired hematopoiesis resulting in low peripheral blood counts. The majority of patients with MDS present with symptoms related to anemia; however, bleeding and infection are the most common causes of death. The median age of diagnosis is 72 ...
Hamed Sherifa A - - 2010
Abdominal migraine is a commonly described migraine variant in children and young adults, but associations with Alice in Wonderland syndrome and lilliputian hallucinations are exceptional. A 20 years-old male experienced frequent and prolonged attacks of abdominal colic associated with autonomic manifestations started at the age of ten. At the age ...
Tokars Jerome I - - 2010
BioSense is the US national automated biosurveillance system. Data regarding chief complaints and diagnoses are automatically pre-processed into 11 broader syndromes (e.g., respiratory) and 78 narrower sub-syndromes (e.g., asthma). The objectives of this report are to present the types of illness and injury that can be studied using these data ...
Valenti A - - 2010
Patients with cirrhosis or portal hypertension may develop hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPHT). HPS occurs in 25% of the subjects with cronic hepatopathy waiting for a liver transplantation. HPS is characterized by cronic hepatopathy and/or portal hypertension, increased P(A-a)O2 gradient (more than 20 mmHg) with hypoxemia and intrapulmonary ...
Cuvellier Jean-Christophe - - 2010
This review focuses on so-called "periodic syndromes of childhood that are precursors to migraine," as included in the second edition of the International Classification of Headache Disorders. Presentation is characterized by an episodic pattern and intervals of complete health. Benign paroxysmal torticollis is characterized by recurrent episodes of head tilt, ...
Pavone Lorenzo - - 2010
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It ...
Lavine Ronald - - 2010
Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, ...
Alvarez Flores M P - - 2010
Despite the nearly worldwide distribution of Lepidoptera, there are few species with clear documentation of adverse reactions in humans. Most syndromes caused by Lepidoptera are consequences of direct contact with the hairs or setae of caterpillars. In most instances, the adverse effects caused by moth and caterpillars are self-limited and ...
Agrawal Sanwar - - 2010
A 12-year-old girl presented with significant vomiting, and generalised muscular weakness. She had normal anion gap metabolic acidosis, hypokalemia and alkaline urine. Vomiting generally leads to metabolic alkalosis but this patient had acidosis which suggested either renal tubular acidosis (RTA) or diarrhoea. Investigations showed distal RTA. There was no family ...
Toker Ori - - 2010
The cryopyrin-associated syndromes (CAPS) include three autosomal-dominant syndromes, that are caused by a mutation in the NLRP3 gene on chromosome 1, encoding the cryopyrin protein. These syndromes, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, fever, central nervous system inflammation, an arthropathy ...
Gupta Vineeta - - 2010
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. Another name for the condition is Zinsser-Cole-Engman syndrome. Hematologic manifestations usually do not appear in childhood but later in early adulthood. Patients are also prone to carcinomas, particularly of the head ...
Varela Manuel - - 2010
The classic anatomo-clinic paradigm based on clinical syndromes is fraught with problems. Nevertheless, for multiple reasons, clinicians are reluctant to embrace a more pathophysiological approach, even though this is the prevalent paradigm under "which basic sciences work. In recent decades, nonlinear dynamics ("chaos theory") and fractal geometry have provided powerful ...
Al-Badawi Ismail A - - 2010
There are only a few reports of uterine cancers in women with Down syndrome, whose tumor profile is marked by a reduced risk for solid neoplasms. There are no reports of a uterine carcinosarcoma arising in a woman with Down syndrome. in our case, a delayed diagnosis of uterine carcinosarcoma ...
Maramattom Bobby Varkey - - 2010
Stiff person syndrome (SPS) is a rare disorder characterized by severe axial and/or limb rigidity, spasms and continuous motor unit activity on EMG. Symptomatically these patients are usually treated with GABAergic medications. We present a 45-year-old woman with SPS, who failed high dose of GABAergic medication. With intrathecal baclofen by ...
Yalta Kenan - - 2011
Neurological disorders including chronic demyelinating syndromes (CDSs) have been known to elicit propensity to cardiac arrhythmias possibly due to autonomic imbalance, myocardial myocytolysis and some psychological conditions (major depression etc.) associated with these syndromes. CDSs are generally characterized by variable degrees of inflammatory response that may corrrelate with clinical disease ...
Menon R - - 2010
Chorioamnionitis, inflammation of the amniochorionic membrane (fetal membranes) is a very common disease but a complex syndrome associated with pregnancy. It presents a clinical impasse due to lack of knowledge of specific etiologies associated with this condition making confident clinical interventions difficult. Recent reports provide insight into genetic, epigenetic, behavioral, ...
Pisani Giacomo - - 2010
In cases of adult acquired flatfoot associated with peritalar destabilisation, special reference is made to the plantar calcaneo-navicular (spring) ligament's degenerative disease (degenerative glenopathy) and to the presence of the accessory navicular bone as a possible pathogenic cause. Peritalar destabilization syndrome is proposed for the articular (subtalar and talo-navicular joints) ...
Flach Allan J - - 2009
To extend upon previous reports, observations, and discussions of intraoperative floppy iris syndrome (IFIS) with the goal of providing new insight into the syndrome's pathophysiology, prevention, and treatment. Following a review of IFIS and its relationship to autonomic pharmacology, evidence for anatomic changes following exposure of humans and other animals ...
Morbach H - - 2009
The objectives of this study are autoinflammatory syndromes which are usually characterized by repeated attacks of fever, especially in children. The presentation of these diseases, however, varies between entities and between patients of a particular syndrome. We report a 16-year-old female patient, who suffered from periodic erythema and myositis/fasciitis. She ...
Wevers Brigitte A - - 2009
In marked contrast to their historical classification as relatively harmless, common cold-causing, respiratory pathogens, human coronaviruses (HCoVs) are associated with more severe clinical complications, as emphasized by the discovery of severe acute respiratory syndrome-associated CoV (SARS-CoV) in 2003. Still, their precise pathogenic potential is largely unknown, particularly regarding the most ...
Cimini C - - 2009
Yellow nail syndrome is a rare cause of edema due to a disordered lymphatic drainage. We recently observed two cases of long-standing, chronic edema, whose nature could not be understood despite innumerable diagnostic procedures. The diagnosis was suspected based on an attentive clinical exam and confirmed by radionuclide lymph scan. ...
Ferini-Strambi Luigi - - 2009
Restless legs syndrome (RLS) is a common condition characterized by an urge to move the legs, accompanied by uncomfortable or unpleasant sensations. Symptoms predominantly occur at rest in the evening or at night, and they are alleviated by moving the affected extremity or by walking. Recent European epidemiological studies reported ...
Banerjee Sushmita - - 2009
CONTEXT: Hemolytic uremic syndrome (HUS) is a severe acute disease, sometimes with long-term sequelae. The diarrhoea-unrelated forms are particularly associated with a poor prognosis. The aim of this paper is to review current evidence regarding etiology and management, and explore methods by which the outcome may be optimized. EVIDENCE ACQUISITION: ...
Zenker Martin - - 2009
Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies. It is now known that all these disorders are caused by mutations ...
Wingbermuehle Ellen - - 2009
The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and ...
Apuya Jesus - - 2009
A neonate developed red man's syndrome and stridor following perioperative administration of vancomycin. The medical management of stridor and red man's syndrome are presented.
Braunstahl Gert-Jan - - 2009
Allergic asthma and rhinitis are manifestations of the atopic syndrome and often coexist. It has been demonstrated that allergic rhinitis is a strong risk factor for the onset of asthma in adults. Genetic and environmental factors are recognized as contributing factors to the development of the allergic airway syndrome. Insight ...
Bhatt Surya P - - 2009
Lady Windermere syndrome is right middle lobe or lingular segment bronchiectasis due to Mycobacterium avium intracellulare infection. In this brief report we describe two cases with contrasting clinical courses and discuss controversies regarding aetiology, pathogenesis and treatment. Hypotheses explaining middle lobe predilection are discussed and an alternative hypothesis is offered.
Gonzales Elizabeth A - - 2009
PURPOSE: To provide an overview of Marfan syndrome (MFS), including diagnostic criteria, genetic factors involved, emerging theories for treatment, a case study, and an overview of genetic counseling for individuals and families of those with MFS. DATA SOURCES: Selected research, review, and clinical articles. CONCLUSIONS: MFS is a connective tissue ...
Hanno Philip M - - 2009
A classic triad of symptoms (bladder pain, urinary frequency, and urgency) has served to define bladder pain syndrome/painful bladder syndrome/interstitial cystitis (BPS/PBS/IC) syndrome. BPS/PBS/IC is a distinct condition and it is likely that the urgency experienced by these patients differs from that experienced by those with overactive bladder syndrome. It ...
McKay P G - - 2009
Chronic fatigue syndrome and fibromyalgia represent distinct diagnostic entities within both the clinical and research literature. A common feature of both presentations is that they are often accompanied by a significant mental health burden. A further salient feature of both conditions is that there is no consistent consensus on aetiology. ...
Ranasinghe Aaron M - - 2010
Thyroid hormone has a wide range of cardiovascular effects which are mediated at both genomic and non-genomic levels. As a stress response to surgery, the non-thyroidal illness syndrome or euthyroid sick syndrome occurs in the post-operative period following cardiac surgery. There remains debate about the potential benefits of the treatment ...
Teachey David T - - 2010
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of T cell dysregulation caused by defective Fas-mediated apoptosis. Patients with ALPS can develop a myriad of clinical manifestations including lymphadenopathy, hepatosplenomegaly, autoimmunity and increased rates of malignancy. ALPS may be more common that originally thought, and testing for ALPS should be considered ...
Koyner Jay L JL University of Chicago, Chicago, IL, - - 2010
Acute lung injury (ALI) and acute kidney injury (AKI) are complications often encountered in the setting of critical illness. Both forms of end-organ injury commonly occur in similar settings of systemic inflammatory response syndrome, shock, and evolving multiple organ dysfunction. Recent elucidation of the pathobiology of critical illness has led ...
Dattilo Giuseppe - - 2011
Ion channels are essential to a wide range of physiological functions including neuronal signaling, muscle contraction, cardiac pacemaking, hormone secretion and cell proliferation. Linking ion-channel gene mutations to inherited disorders has been described. Ankyrins are intracellular proteins required for the biogenesis and maintenance of membrane domains in both excitable and ...
Muenzer Joseph - - 2009
Hunter syndrome is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. In the absence of sufficient enzyme activity, glycosaminoglycans accumulate in the lysosomes of many tissues and organs and contribute to the multisystem, progressive pathologies seen in Hunter syndrome. The nervous, cardiovascular, respiratory, and musculoskeletal ...
Yuan S-M - - 2009
Left recurrent laryngeal nerve palsy characterized by hoarseness due to a cardiovascular disorder, which is termed as cardiovocal syndrome or Ortner's syndrome, is an unusual condition. The syndrome might be associated with diverse cardiovascular diseases. However, it is rarely caused by an aortic pseudoaneurysm. The prominent clinical features of such ...
Stewart Ellie - - 2009
Over active bladder syndrome (OAB) is the most common cause of urinary incontinence in the older population (Gadgil and Wagg, 2008). Many women do not seek medical help and advice as they consider it to be an inevitable part of ageing. It can have significant impact on sufferers' lives and ...
Harb William J - - 2009
Intestinal polyposis syndromes, such as familial adenomatous polyposis (FAP) and Cowden's syndrome, are often associated with extraintestinal manifestations, and while many of these manifestations are benign, malignant extraintestinal manifestations, such as differentiated thyroid cancers, do occur. Although differentiated thyroid cancers (ie, papillary and follicular thyroid carcinomas) are associated with multiple ...
van Os J - - 2009
OBJECTIVE: Japan was the first country to abandon the 19th century term of 'mind-splitting disease' (schizophrenia). Revisions of DSM and ICD are forthcoming. Should the rest of the world follow Japan's example? METHOD: A comprehensive literature search was carried out in order to review the scientific evidence for the validity, ...
Jensen Gordon L GL Department of Nutritional Sciences, Pennsylvania State University, University Park, PA 16802, USA. - - 2009
This provocative commentary critically examines historic definitions for adult malnutrition syndromes as they apply to developed countries with modern healthcare. To stimulate further discussion, the authors propose an updated approach that incorporates current understanding of the systemic inflammatory response to help guide assessment, diagnosis, and treatment. An appreciation of a ...
Didelot Adrien - - 2009
PURPOSE OF REVIEW: To describe specificities and new advances in treatment of paraneoplastic neurological syndromes (PNS). RECENT FINDINGS: PNS are defined as neurological syndromes of unknown cause that often antedate the diagnosis of an underlying cancer that is usually not clinically evident. The clinical signs of PNS are accurately described ...
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