Search Results
Results 301 - 350 of 1814
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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 ...
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 ...
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 ...
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 ...
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 ...
Bagshaw Sean M - - 2010
Cardiac and kidney disease are common, increasingly encountered and frequently coexist. A consensus classification for the cardiorenal syndrome (CRS) and its specific subtypes has been developed by the Acute Dialysis Quality Initiative (ADQI). The five CRS subtypes have a similar underlying pathophysiology, however they likely have distinguishing features in terms ...
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 ...
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 ...
Bouwmans Angela E P - - 2010
We reviewed eight studies on transcranial sonography (TCS) as a tool for differentiating idiopathic Parkinson's disease (IPD) from atypical parkinsonian syndromes (APS) and included some first data on TCS findings in the subforms of PSP. Changes of specific structures on TCS like the substantia nigra (SN), lenticular nucleus (LN), and ...
Biondi Antonio - - 2010
The post-thrombotic syndrome (PTS) is a long-term complication of deep venous thrombosis (DVT) that is characterized by chronic, persistent pain, swelling and other signs in the affected limb. PTS is common, burdensome and costly. It is likely to increase in prevalence, since despite widespread use of and improvements in the ...
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 ...
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 ...
McCullough Peter A - - 2010
The cardiorenal syndromes (CRS) are composed of five recently defined syndromes which represent common clinical scenarios in which both the heart and the kidney are involved in a bidirectional injury process leading to dysfunction of both organs. Common to each subtype are multiple complex pathogenic factors, a precipitous decline in ...
Merlino Giovanni - - 2010
Restless legs syndrome (RLS) is a sleep-related movement disorder with a high prevalence in the general population. Patients affected by a severe form of the disorder may develop comorbidities, such as psychological distress, cognitive dysfunction and cardiovascular diseases; these patients require pharmacotherapy. Dopamine agonists represent the first line treatment for ...
Drescher Kristen M - - 2010
High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics ...
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 ...
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 ...
Kernan Scott - - 2010
Postural orthostatic tachycardia syndrome (POTS) is a disorder characterized by postural tachycardia in combination with orthostatic symptoms without associated hypotension. Symptoms include light-headedness, palpitations, fatigue, confusion, and anxiety, which are brought on by assuming the upright position and usually relieved by sitting or lying down. Given the associated autonomic dysfunction ...
McCormack Steven E - - 2010
Myelodysplastic syndromes (MDS) are a varied group of diseases leading to significant morbidity and mortality. Therapy of MDS has been difficult, with supportive cares used to ameliorate symptoms, and hematopoietic stem cell transplantation the only curative option. Agents, such as the cytidine analog azacitidine, exert an effect on DNA methyltransferase ...
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, ...
De Sanctis Sara - - 2010
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic ...
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 ...
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) ...
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. ...
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 ...
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 ...
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 ...
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 ...
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.
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 ...
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.
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Koritsas Stella - - 2009
The effects of secondary conditions across adults with autism, Down syndrome, and cerebral palsy were explored in terms of overall limitation in life participation and independence, changes over time, and the degree and nature of limitation in specific secondary conditions. Information was obtained for 35 adults with autism, 49 with ...
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 ...
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, ...
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