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1693240 | 33,737,590 | Ultrastructural and immunohistochemical study of epithelioid hemangioendothelioma of bone: coexpression of epithelial and endothelial markers | Four cases of epithelioid hemangioendothelioma of bone--a borderline malignant tumor of vascular origin--were studied ultrastructurally and immunohistochemically. The epithelioid tumor cells were positive for vimentin, polyclonal and monoclonal cytokeratins, and the endothelial markers factor VIII-related antigen (FVII... | Gold Standard | clinical characteristics or disease pathology | 0 |
2068012 | 39,595,153 | Epithelioid angiosarcoma of the adrenal gland associated with chronic arsenical intoxication? | Epithelioid angiosarcoma is a rare tumor quite recently described. There is no accurate epidemiological study of this tumor. Among the internal organs, the liver is the one most frequently affected with angiosarcoma while there is no reference to the adrenal gland as a primary site. It is well known that the direct exp... | Gold Standard | clinical characteristics or disease pathology | 0 |
3176552 | 30,077,314 | [Changed manifestation of fluorosis as an occupational disease within the past 15 years]. | characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole-exome sequencing at our single center from a total of 265 patients with PCD within a 5-year period. Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = ... | Gold Standard | disease mechanism | 2 |
10706650 | 21,310,249 | Sedation for intractable distress of a dying patient: acute palliative care and the principle of double effect | Shortly before his death in 1995, Kenneth B. Schwartz, a cancer patient at Massachusetts General Hospital (MGH), founded the Kenneth B. Schwartz Center at MGH. The Schwartz Center is a nonprofit organization dedicated to supporting and advancing compassionate health care delivery, which provides hope to the patient, su... | Gold Standard | therapeutics in the clinic | 3 |
11233615 | 22,791,609 | Magnetic resonance imaging in the investigation of sensorineural hearing loss: is contrast enhancement still necessary? | High resolution T2-weighted magnetic resonance (MR) imaging has been proposed as a rapid, inexpensive means of investigating patients with sensorineural deafness, particularly to exclude vestibular schwannomas. Whether the accepted 'gold standard' of contrast-enhanced T1-weighted images can be omitted, however, remains... | Gold Standard | clinical characteristics or disease pathology | 0 |
15630586 | 19,411,982 | Value of 123I-IMT SPECT for diagnosis of recurrent non-astrocytic intracranial tumours | The value of single-photon emission tomography (SPECT) using iodine-123-alpha-methyl-tyrosine (IMT) for the diagnosis of recurrent or residual gliomas is well established. In the current study we investigated whether IMT-SPECT could also be useful in the follow-up of brain metastases and other intracranial tumours of n... | Gold Standard | clinical characteristics or disease pathology | 0 |
17432352 | 8,766,909 | Intra-nasal scanning of tumors in nasal cavity and paranasal sinus with endoscopic ultrasonography | To evaluate endoscopic ultrasonography for masses in nasal cavity and paranasal sinus. Under the guidance of nasal endoscope, sonographic scan of 18 masses within nasal cavity and paranasal sinus was performed by using 10 MHz catheter transducer with diameter of 3.3 mm under local anesthesia. Twelve of them were benign... | Gold Standard | clinical characteristics or disease pathology | 0 |
19308961 | 205,325,122 | A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability | Prolidase deficiency (PD) is a rare, pan-ethnic, autosomal recessive disease with a broad phenotypic spectrum. Seventeen causative mutations in the PEPD gene have been reported worldwide. The purpose of this study is to characterize, clinically and molecularly, 20 prolidase deficient patients of Arab Moslem and Druze o... | Gold Standard | clinical characteristics or disease pathology | 0 |
19403253 | 206,875,492 | Hereditary hemorragic telangiectasia and hepatic abcess | We report the case of a 27-year-old man presenting with a hepatic abscess and hereditary hemorrhagic telangiectasia (HHT). The association between HHT and an infectious disease seemed to be induced by arteriovenous malformations and maybe also by a deficit of polymorphonuclear cells, a monocyte oxidative burst and phag... | Gold Standard | clinical characteristics or disease pathology | 0 |
19410311 | 6,635,056 | Two vascular arteriovenous malformations with left-to-right shunting and right-heart failure in a single patient | Arteriovenous malformations may lead to right-heart failure in cases of hemodynamically significant left-to-right shunting. Here, we report the case of a 37-year-old female who presented with congestive heart failure related to an isolated anomalous connection of the left pulmonary vein to the left brachiocephalic vein... | Gold Standard | clinical characteristics or disease pathology | 0 |
19840971 | 2,693,778 | A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia | Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results. TEM analysis performed in 1,149 patients... | Gold Standard | clinical characteristics or disease pathology | 0 |
19923167 | 19,970,651 | CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans | Our previous studies have demonstrated the cystic fibrosis transmembrane conductance regulator (CFTR) is important for capacitation and male fertility in mouse and guinea pig spermatozoa. However, the exact function of CFTR on human sperm fertilizing capacity, and correlation with sperm quality has not been established... | Gold Standard | disease mechanism | 2 |
19953662 | 20,321,962 | Ethmoid mucocele: a new feature of primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is a rare congenital autosomal recessive disease that produces impairment of mucosal ciliary movement. Children with this disorder usually manifest recurrent and chronic infections of the upper and lower airways. We describe the history of a 12-month-old boy in whom the correct diagnosi... | Gold Standard | clinical characteristics or disease pathology | 0 |
20004858 | 43,485,084 | Adrenocorticotropic hormone versus pulsatile dexamethasone in the treatment of infantile epilepsy syndromes | For treatment of intractable epilepsies, there are no data comparing conventional adrenocorticotropic hormone and pulsatile corticoid therapy with dexamethasone. A retrospective comparison of efficacy was therefore conducted for both forms of application. Between 1989 and 2001, a series of 11 children with West syndrom... | Gold Standard | therapeutics in the clinic | 3 |
20008422 | 4,836,738 | Resective pediatric epilepsy surgery in Lennox-Gastaut syndrome | The objective of this study was to evaluate the role of resective pediatric epilepsy surgery for Lennox-Gastaut syndrome (LGS). We analyzed clinical data of 27 children and adolescents who had LGS and underwent resective epilepsy surgery despite abundant (>30% of preoperative interictal and/or ictal epileptiform discha... | Gold Standard | therapeutics in the clinic | 3 |
20030794 | 11,213,716 | Acute cellular rejection and Epstein-Barr virus-related post-transplant lymphoproliferative disorder in a pediatric lung transplant with low viral load | We report the case of an 18-year-old male who underwent bilateral lung transplantation for end-stage cystic fibrosis. No Epstein-Barr virus (EBV) or cytomegalovirus serology mismatch was detected on pre-transplant evaluation (donor and recipient were both positive). Two months after lung transplantation a computed tomo... | Gold Standard | therapeutics in the clinic | 3 |
20032308 | 3,104,991 | Interplay between ER exit code and domain conformation in CFTR misprocessing and rescue | Multiple mutations in cystic fibrosis transmembrane conductance regulator (CFTR) impair its exit from the endoplasmic reticulum (ER). We compared two processing mutants: DeltaF508 and the ER exit code mutant DAA. Although both have severe kinetic processing defect, DAA but not DeltaF508 has substantial accumulation in ... | Gold Standard | disease mechanism | 2 |
20041940 | 19,860,002 | The natural history of epilepsy in tuberous sclerosis complex | Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease. A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), sei... | Gold Standard | clinical characteristics or disease pathology | 0 |
20042709 | 19,600,214 | Spontaneous adult-onset pulmonary arterial hypertension attributable to increased endothelial oxidative stress in a murine model of hereditary hemorrhagic telangiectasia | Loss-of-function mutations in genes coding for transforming growth factor-beta/bone morphogenetic protein receptors and changes in nitric oxide(_) (NO(_)) bioavailability are associated with hereditary hemorrhagic telangiectasia and some forms of pulmonary arterial hypertension. How these abnormalities lead to seemingl... | Gold Standard | disease mechanism | 2 |
20052366 | 1,654,046 | The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis | Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest radiographs and comput... | Gold Standard | disease mechanism | 2 |
20067780 | 34,887,756 | Reduced plasma levels of Ang-2 and sEng as novel biomarkers in hereditary hemorrhagic telangiectasia (HHT) | Hereditary hemorrhagic telangiectasia (HHT; OMIM 187300) is an autosomal dominant vascular disorder characterized by telangiectases and internal arteriovenous malformations caused by mutations in certain elements of the TGF-beta receptor complex. In the case of HHT1 mutations in the endoglin gene are responsible, where... | Gold Standard | clinical characteristics or disease pathology | 0 |
20087969 | 11,451,779 | An epistaxis severity score for hereditary hemorrhagic telangiectasia | Hereditary hemorrhagic telangiectasia (HHT)-related epistaxis leads to alterations in social functioning and quality of life. Although more than 95% experience epistaxis, there is considerable variability of severity. Because no standardized method exists to measure epistaxis severity, the purpose of this study was to ... | Gold Standard | clinical characteristics or disease pathology | 0 |
20093376 | 37,483,851 | Swarming motility, secretion of type 3 effectors and biofilm formation phenotypes exhibited within a large cohort of Pseudomonas aeruginosa clinical isolates | Pseudomonas aeruginosa is an opportunistic Gram-negative pathogen capable of acutely infecting or persistently colonizing susceptible hosts. P. aeruginosa colonizes surfaces in vitro by either biofilm formation or swarming motility. The choice of behaviour is influenced by the physical properties of the surface and spe... | Gold Standard | disease mechanism | 2 |
20093519 | 41,267,898 | Pancreatic involvement in hereditary hemorrhagic telangiectasia: assessment with multidetector helical CT | To evaluate and describe pancreatic involvement by using multidetector computed tomography (CT) in patients with a diagnosis of hereditary hemorrhagic telangiectasia (HHT). Institutional review board approval was obtained, and all patients provided informed consent. Across 12 months, all consecutive adult patients with... | Gold Standard | disease mechanism | 2 |
20097527 | 10,817,877 | Ventricular rotation is independent of cardiac looping: a study in mice with situs inversus totalis using speckle-tracking echocardiography. | of a mutant mouse model with a Dnah5 mutation to determine whether cardiac mechanics may be affected by reversal of cardiac situs. This mutant is a bona fide model of primary ciliary dyskinesia, with surviving homozygous mice showing either situs solitus (SS) or situs inversus totalis (SI). High-frequency ultrasound in... | Gold Standard | disease mechanism | 2 |
20099136 | 8,164,561 | Heterologous expression of membrane proteins for structural analysis | Membrane proteins (MPs) are responsible for the interface between the exterior and the interior of the cell. These proteins are involved in numerous diseases, like cancer, cystic fibrosis, epilepsy, hyperinsulinism, heart failure, hypertension and Alzheimer disease. However, studies of these disorders are hampered by a... | Gold Standard | disease mechanism | 2 |
20100611 | 20,887,356 | A healthy birth after intracytoplasmic sperm injection using ejaculated spermatozoa from a patient with Kartagener's syndrome | To report a healthy birth that was achieved by intracytoplasmic sperm injection (ICSI) with use of ejaculated spermatozoa from a patient with Kartagener's syndrome. Case report. Private infertility clinic. Couple with male factor infertility due to Kartagener's syndrome. Intracytoplasmic sperm injection with ejaculated... | Gold Standard | therapeutics in the clinic | 3 |
20141966 | 5,534,683 | Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm | A 53-year-old woman with no classic risk factors for aneurysm disease presented with the sudden onset of chest pain and dyspnea. A large descending thoracic aortic aneurysm with focal type B dissection was identified and excluded by emergency thoracic endografting. Further postoperative evaluation revealed a history of... | Gold Standard | therapeutics in the clinic | 3 |
20142516 | 1,932,232 | Regulation of conductance by the number of fixed positive charges in the intracellular vestibule of the CFTR chloride channel pore | Rapid chloride permeation through the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel is dependent on the presence of fixed positive charges in the permeation pathway. Here, we use site-directed mutagenesis and patch clamp recording to show that the functional role played by one such positive c... | Gold Standard | disease mechanism | 2 |
20149600 | 2,994,446 | Lennox-Gastaut syndrome in adulthood: clinical and EEG features | We performed a retrospective study to investigate seizure, EEG, social and cognitive outcome in adult LGS subjects. We retrospectively evaluated 27 LGS patients aged 40-59 years. We assessed in particular the evolution of different seizure types and EEG findings, as well as cognitive and social outcome. During the earl... | Gold Standard | clinical characteristics or disease pathology | 0 |
20167855 | 32,667,407 | Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study | Early diagnosis and treatment is considered important to prevent lung damage in primary ciliary dyskinesia (PCD). Few studies have addressed long-term evolution of lung function after PCD diagnosis. We investigated whether long-term lung function was dependent on age or level of lung function at PCD diagnosis. An obser... | Gold Standard | clinical characteristics or disease pathology | 0 |
20167933 | 207,553,696 | Prostaglandin E₂regulation of cystic fibrosis transmembrane conductance regulator activity and airway surface liquid volume requires gap junctional communication | Stimulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by protease-activated receptors (PARs) at the basolateral membranes and by adenosine receptors (ADO-Rs) at the apical membrane maintain airway surface liquid (ASL) volume, which is required to ensure hydrated and clearable mucus. Both pathway... | Gold Standard | disease mechanism | 2 |
20169970 | 30,551,849 | Anesthetic management of a child with Lennox-Gastaut syndrome | General anesthesia was given twice to a 9-year-old girl with Lennox-Gastaut syndrome (LGS). LGS is one of the catastrophic forms of childhood epilepsy, and very few reports describe its anesthetic management. The anesthetic concern in LGS patients is a possibility of perioperative epilepsy due to proconvulsive effects ... | Gold Standard | therapeutics in the clinic | 3 |
20170910 | 205,048,931 | High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia | Patients with hereditary hemorrhagic telangiectasia (HHT) often present with recurrent anemia because of epistaxis or GI bleeding in relation to telangiectases mostly located in the stomach or small bowel. Capsule endoscopy is considered a major diagnostic tool for small-bowel diseases, but the impact of capsule endosc... | Gold Standard | clinical characteristics or disease pathology | 0 |
20198988 | 34,894,848 | Endovascular treatment of hereditary hemorrhagic telangiectases of the tongue | Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder involving vascular abnormalities of various organs. Telangiectases are frequently observed, predominantly on the nasal and oral mucosa. We present a case a of 53-year-old man with the tonge hemorrhagic tela... | Gold Standard | therapeutics in the clinic | 3 |
20199521 | 31,185,652 | Adjunctive rufinamide in Lennox-Gastaut syndrome: a long-term, open-label extension study | This open-label extension evaluated the long-term efficacy and tolerability of rufinamide in patients with Lennox-Gastaut syndrome (LGS) who had previously completed a 12-week double-blind study. In total, 124 patients (aged 4-37 years), receiving 1-3 concomitant antiepileptic drugs, were treated with rufinamide approx... | Gold Standard | patient-based therapeutics | 4 |
20202952 | 32,249,931 | Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency | Spontaneous hemothorax as a result of a ruptured pulmonary arteriovenous malformation (PAVM) is a life-threatening event and requires immediate interventional therapy. We present two patients who survived following emergent embolization. Definitive thoracentesis was delayed until embolization was performed. The tampona... | Gold Standard | therapeutics in the clinic | 3 |
20224041 | 12,887,435 | Pathogenesis of arteriovenous malformations in the absence of endoglin | Arteriovenous malformations (AVMs) result in anomalous direct blood flow between arteries and veins, bypassing the normal capillary bed. Depending on size and location, AVMs may lead to severe clinical effects including systemic cyanosis (pulmonary AVMs), hemorrhagic stroke (cerebral AVMs) and high output cardiac failu... | Gold Standard | disease mechanism | 2 |
20309575 | 36,483,599 | The characterization of the first anti-mouse Muc6 antibody shows an increased expression of the mucin in pancreatic tissue of Cftr-knockout mice | Gel-forming mucins are large high-molecular weight secreted O-glycoproteins responsible for the gel-properties of the mucus blanket. Five orthologous gel-forming mucins have been cloned in human and mouse. Among them, the mucin MUC6 has been less studied, particularly in rodents and no anti rodent-Muc6 antibody has bee... | Gold Standard | disease mechanism | 2 |
20335083 | 10,169,843 | Value of nasal nitric oxide in the diagnosis of primary ciliary dyskinesia | The aim of this study is to report nasal nitric oxide (nNO) values in children with primary ciliary dyskinesia (PCD) and to compare them with nNO values in healthy children, asthmatic children, children with cystic fibrosis and children with post infectious bronchiectasis. We determined nNO values in 9 children with PC... | Gold Standard | clinical characteristics or disease pathology | 0 |
20345938 | 38,802,020 | Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients | Late-onset spasms (LOS) are epileptic spasms starting after the first year of life. Our aim was to assess the electroclinical features and the follow-up of the patients with this particular type of epileptic seizure. We retrospectively included all patients with LOS confirmed by electroencephalography between 1989 and ... | Gold Standard | clinical characteristics or disease pathology | 0 |
20346358 | 38,289,608 | Chloride channels and transporters in human corneal epithelium | Transport of water and electrolytes is critical for corneal clarity. Recent studies indicate another important function of transport of ions and electrolytes - establishing wound electric fields that guide cell migration. We found chloride (Cl(-)) flux is a major component of the corneal wound electric current. In orde... | Gold Standard | disease mechanism | 2 |
20350728 | 162,411 | Primary ciliary dyskinesia in Amish communities | Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite cons... | Gold Standard | clinical characteristics or disease pathology | 0 |
20368796 | 13,890,898 | Intensity-modulated radiotherapy for a rendu-osler-weber disease patient with recurrent severe epistaxis: a case report | We present a case of a Rendu-Osler-Weber disease patient with recurrent life threatening epistaxis demanding multiple blood transfusions despite of repetitive endoscopic laser and electrocoagulations, endovascular embolisation, septodermoplasty, and long-term intranasal dressings. As alternative treatment modalities re... | Gold Standard | therapeutics in the clinic | 3 |
20384723 | 34,623,865 | Frameshift mutations of the ARX gene in familial Ohtahara syndrome | Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is frequently associated with brain malformations, such as hemimegalencephaly. Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature ter... | Gold Standard | disease mechanism | 2 |
20414677 | 5,743,541 | Update on molecular diagnosis of hereditary hemorrhagic telangiectasia | Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant, vascular disease hallmarked by the development of arteriovenous malformations (AVMs). Germline mutations in two genes, endoglin (ENG) and activin receptor like kinase 1 (ACVRL1), have been implicated in this disease. This report describes molecular d... | Gold Standard | disease mechanism | 2 |
20458853 | 27,514,989 | Fatal hypoxic hepatitis in a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber's disease) | Hypoxic (ischemic) hepatitis generally requires the concurrence of an underlying condition which chronically exposes the liver to some degree of hypoxia (for example, congestive heart failure) combined with a triggering event (for example, arrhythmia) which further decreases the oxygen supply. We report a case of hypox... | Gold Standard | clinical characteristics or disease pathology | 0 |
20463179 | 22,296,052 | Failure to recover to baseline pulmonary function after cystic fibrosis pulmonary exacerbation | Patients with cystic fibrosis periodically experience pulmonary exacerbations. Previous studies have noted that some patients' lung function (FEV(1)) does not improve with treatment. To determine the proportion of patients treated for a pulmonary exacerbation that does not recover to spirometric baseline, and to identi... | Gold Standard | therapeutics in the clinic | 3 |
20466398 | 207,213,368 | Brain abscess as the first clinical manifestation of isolated pulmonary arteriovenous malformation without Rendu-Osler disease | Brain abscesses occur in 5 to 13 % of patients with pulmonary arteriovenous malformation (PAVM), more often present in Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT). A 51-year-old man with a history of transient Parinaud syndrome at 37 years complained of **headache** for 2 months before **ac... | Gold Standard | clinical characteristics or disease pathology | 0 |
20481640 | 11,282,719 | Drug metabolite-specific lymphocyte responses in sulfamethoxazole allergic patients with cystic fibrosis | Sulfamethoxazole (SMX) is an important antibiotic in the management of patients with cystic fibrosis, but allergic reactions may develop thus restricting therapy. The aim of this study was to utilize drug (metabolite) antigens to diagnose SMX-mediated allergic reactions in patients with cystic fibrosis. Lymphocytes fro... | Gold Standard | clinical characteristics or disease pathology | 0 |
20495106 | 44,727,235 | Predictors of influenza vaccination in the Cystic Fibrosis Foundation patient registry, 2006 through 2007 | Influenza vaccination is recommended for all persons with cystic fibrosis (CF). Despite this recommendation, no study has been performed to determine factors associated with receipt of influenza vaccination among persons with CF. We conducted a 2-year cohort study from 2006 through 2007 using the CF Foundation (CFF) Pa... | Gold Standard | therapeutics in the clinic | 3 |
20519934 | 25,317,320 | SPLUNC1 expression reduces surface levels of the epithelial sodium channel (ENaC) in Xenopus laevis oocytes | Throughout the body, the epithelial Na+ channel (ENaC) plays a critical role in salt and liquid homeostasis. In cystic fibrosis airways, for instance, improper regulation of ENaC results in hyperabsorption of sodium that causes dehydration of airway surface liquid. This dysregulation then contributes to mucus stasis an... | Gold Standard | disease mechanism | 2 |
20537283 | 30,640,323 | Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia | Adenylate kinase 7 (AK7) mediates the reaction 2ADP <--> ATP + AMP, providing energy for the beating of cilia. A study recently showed that AK7 expression may be correlated with the primary ciliary dyskinesia (PCD) phenotype in mice. In this study, we characterized AK7 expression in vitro in an air-liquid interface (AL... | Gold Standard | disease mechanism | 2 |
20542434 | 39,039,282 | Lennox-Gastaut syndrome and idiopathic intracranial hypertension | Lennox-Gastaut Syndrome is a severe childhood epilepsy syndrome characterised by the diagnostic triad of a slow spike and wave pattern on electroencephalogram, multiple seizure types and developmental delay. Idiopathic intracranial hypertension is a syndrome characterised by raised cerebrospinal fluid pressure in the a... | Gold Standard | clinical characteristics or disease pathology | 0 |
20564725 | 2,027,821 | Characteristics of chloride transport in nasal mucosa from patients with primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an inherited disorder that produces lifelong difficulties with chronic airway inflammation. Little is known about the role of chronic airway inflammation on chloride ion transport properties in PCD. This study assessed the cyclic adenosine monophosphate (cAMP)-regulated chloride (Cl)... | Gold Standard | disease mechanism | 2 |
20569877 | 205,002,626 | Tolerance and efficacy of ceftazidime in combination with aztreonam for exacerbations of cystic fibrosis | Antibiotic therapy for acute pulmonary exacerbations in patients with cystic fibrosis is usually chosen based on the results of antimicrobial susceptibility. This can be difficult when bacteria are multiresistant. The objective of this retrospective study was to evaluate the tolerance and efficiency of ceftazidime and ... | Gold Standard | therapeutics in the clinic | 3 |
20597077 | 37,947,006 | Measurement of airway ion transport assists the diagnosis of cystic fibrosis | The nasal potential difference (PD) demonstrates the increased Na absorption and decreased Cl secretion typically found in cystic fibrosis (CF). It provides useful information for diagnostic purposes and measures the effect of new treatments on the ion transport defects found in CF. This study summarizes the nasal PD r... | Gold Standard | clinical characteristics or disease pathology | 0 |
20598586 | 16,565,240 | Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience | To evaluate the long-term efficacy/tolerability of the ketogenic diet (KD) in paediatric drug-resistant epilepsies. Data from children who were treated between 1999 and 2008 and had continuous follow-up of at least 6 months after initiation of the KD were analysed retrospectively. Response was defined as > or = 50% sei... | Gold Standard | therapeutics in the clinic | 3 |
20610118 | 34,957,305 | Infantile spasms: does season influence onset and long-term outcome? | To study whether onset of infantile spasms manifests seasonal variation, as previously reported, and whether any such seasonality is associated with treatment response and long-term outcome, data for 57 patients were retrospectively reviewed. The data were collected from hospital files and through a mail survey of chil... | Gold Standard | clinical characteristics or disease pathology | 0 |
20618411 | 25,636,384 | Outcome of vagus nerve stimulation for epilepsy in Budapest | Vagus nerve stimulation (VNS) is a nonpharmacologic therapeutic option for patients with intractable epilepsy. Better clinical outcomes were recorded in nonfocal and Lennox-Gastaut syndrome (LGS). We conducted a 2-year, open label, prospective study to measure the seizure outcome of 26 VNS patients. The seizure numbers... | Gold Standard | patient-based therapeutics | 4 |
20618958 | 16,301,773 | Isolation and characterization of microparticles in sputum from cystic fibrosis patients | Microparticles (MPs) are membrane vesicles released during cell activation and apoptosis. MPs have different biological effects depending on the cell from they originate. Cystic fibrosis (CF) lung disease is characterized by massive neutrophil granulocyte influx in the airways, their activation and eventually apoptosis... | Gold Standard | clinical characteristics or disease pathology | 0 |
20620301 | 12,323,173 | Primary lung tumors in children and adolescents: a 90-year experience | Primary lung tumors in children are rare. A wide range of histopathologic tumor types occurs. The incidence of these lesions and their outcomes are still largely unknown. **This study aims to determine the incidence of different primary lung tumors in children and to contribute data leading to the development of eviden... | Gold Standard | clinical characteristics or disease pathology | 0 |
20622729 | 206,086,329 | Unsuspected polymicrobial brain abscess arising from an intra-abdominal source in a patient with hereditary hemorrhagic telangiectasia | The unusual and unprecedented occurrence of a patient with hereditary hemorrhagic telangiectasia (HHT) and a polymicrobial abscess with three different organisms, including fungi, is reported. The patient was a 48-year-old woman with human immunodeficiency virus (HIV) infection and HHT who was brought to the hospital a... | Gold Standard | clinical characteristics or disease pathology | 0 |
20631900 | 8,657,496 | Triple-vessel percutaneous coronary revascularization in situs inversus dextrocardia | Dextrocardia with situs inversus occurs in approximately one in 10,000 individuals of whom 20% have primary ciliary dyskinesia inherited as an autosomal recessive trait. These patients have a high incidence of congenital cardiac disease but their risk of coronary artery disease is similar to that of the general populat... | Gold Standard | therapeutics in the clinic | 3 |
20650983 | 12,335,630 | Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia | Agenesis of paranasal sinuses has only been described in case reports of patients with primary ciliary dyskinesia (PCD). As agenesis of paranasal sinuses may contribute to low nasal nitric oxide levels, a common finding in PCD, we speculated that this condition might frequently occur in PCD patients. Patients referred ... | Gold Standard | clinical characteristics or disease pathology | 0 |
20651854 | 41,856,093 | Characterization of clonal strains of Pseudomonas aeruginosa isolated from cystic fibrosis patients in Ontario, Canada | Pseudomonas aeruginosa is an opportunistic pathogen that can form biofilms in the lungs and airways of cystic fibrosis (CF) patients, resulting in chronic endobronchial infection. Two clonal strains of P. aeruginosa, named type A and type B, have recently been identified and have been found to infect more than 20% of C... | Gold Standard | disease mechanism | 2 |
20666130 | 3,463,183 | Treatment of childhood epilepsies: Japanese Expert Consensus study and a comparison of the results with those of the USA and EU | We conducted a Japanese Expert Consensus (EC) study for the treatment of childhood epilepsies following the method reported from the USA and EU (Wheless JW, et al., 2005, 2007), and compared the results to reveal differences in the choice of antiepileptic drugs (AEDs). The subjects were 41 pediatric board-certified epi... | Gold Standard | therapeutics in the clinic | 3 |
20666837 | 30,396,165 | Rufinamide in refractory childhood epileptic encephalopathies other than Lennox–Gastaut syndrome | Background: To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood‐onset epileptic encephalopathies other than Lennox–Gastaut syndrome. | Gold Standard | patient-based therapeutics | 4 |
20667149 | 8,168,304 | Repeatability of the 6-minute walk test in adolescents and adults with cystic fibrosis | To determine the repeatability of the 6-minute walk test (6MWT) in adolescents and adults with cystic fibrosis (CF). This was a prospective cross-sectional study. We included consecutive patients ages>or=15 years attending an adult CF program. The patients underwent the 6MWT, pulmonary function tests, and clinical eval... | Gold Standard | clinical characteristics or disease pathology | 0 |
20682136 | 24,571,852 | Nasal nitric oxide and pulmonary radioaerosol mucociliary clearance as supplementary tools in diagnosis of primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive inherited disorder, characterized by abnormalities in ciliary structure and/or function. Frequent, intermittent or chronic airway infections precipitated by impaired airway mucociliary clearance may cause permanent lung damage and reduced lung func... | Gold Standard | clinical characteristics or disease pathology | 0 |
20692461 | 39,388,301 | Case report: cystic fibrosis, lung transplantation, and the novel H1N1 flu | The H1N1 pandemic flu is a significant risk factor for both patients with chronic disease who need organ transplantation and transplant recipients. This population needs special care regarding comorbidities and related complications. MB, a 38-year-old Italian cystic fibrosis male patient with lung and pancreatic involv... | Gold Standard | therapeutics in the clinic | 3 |
20717170 | 242,550,250 | p | Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. Among the 1700 mutations reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a missense mutation, p.Ser1235Arg, is a relatively frequent finding. To clarify its clinical signif... | Gold Standard | disease mechanism | 2 |
20797703 | 42,585,916 | A sperm viability test using SYBR-14/propidium iodide flow cytometry as a tool for rapid screening of primary ciliary dyskinesia patients and for choosing sperm sources for intracytoplasmic sperm injection | Spermatozoa viability tests based on dual-color flow cytometry after staining with Sybr-14/propidium iodide were performed on 44 men with complete asthenospermia for primary ciliary dyskinesia (PCD) screening, and seven were identified with PCD by electron microscopy of ultrastructural ciliary defects. Six PCD patients... | Gold Standard | therapeutics in the clinic | 3 |
20802934 | 22,184,169 | High prevalence of methicillin-resistant Staphylococcus aureus with SCCmec type III in cystic fibrosis patients in southern, Brazil | Bacterial colonization of the lungs is the main cause of morbidity in cystic fibrosis (CF). Pathogens such as Staphylococcus aureus are very well adapted to the pulmonary environment and may persist for years in the same patient. Genetic determinants of these bacteria, such as the presence of SCCmec have recently emerg... | Gold Standard | clinical characteristics or disease pathology | 0 |
20823030 | 206,548,744 | Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation | We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnose... | Gold Standard | disease mechanism | 2 |
20842588 | 8,601,564 | New antiepileptic drugs: lacosamide, rufinamide, and vigabatrin | The treatment of epilepsy is complicated by the multiple seizure types and epilepsy syndromes needing therapy. In addition, seizures in up to 30% of epilepsy patients are resistant to available medications. The three newest antiepileptic medications (lacosamide, rufinamide, and vigabatrin) all putatively have novel mec... | Gold Standard | therapeutics in the clinic | 3 |
20868986 | 22,672,725 | Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma | A case report. This paper describes a clinical case of both giant cell granuloma and Kartagener syndrome in a 15-year-old male patient, with emphasis on the radiographic aspects of this extremely unusual pathology. To our knowledge, the presence of these 2 rare clinical conditions in the same patient has not been previ... | Gold Standard | clinical characteristics or disease pathology | 0 |
20888268 | 17,372,464 | Rufinamide in children and adults with Lennox–Gastaut syndrome: First Italian multicenter experience | adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.9 ± 7.3, median 15.0), were treated wi... | Gold Standard | patient-based therapeutics | 4 |
20927127 | 11,520,009 | PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients | Cystic fibrosis (CF) is a common life-threatening autosomal recessive disorder in the Caucasian population, and the gene responsible is the CF transmembrane conductance regulator (CFTR). Patients with CF have repeated bacterial infection of the airways caused by Pseudomonas aeruginosa (PA), which is one of the predomin... | Gold Standard | disease mechanism | 2 |
20933420 | 51,809,318 | Cse1l is a negative regulator of CFTR-dependent fluid secretion | Transport of chloride through the cystic fibrosis transmembrane conductance regulator (CFTR) channel is a key step in regulating fluid secretion in vertebrates [1, 2]. Loss of CFTR function leads to cystic fibrosis [1, 3, 4], a disease that affects the lungs, pancreas, liver, intestine, and vas deferens. Conversely, un... | Gold Standard | disease mechanism | 2 |
20938370 | 25,804,761 | Skeletal muscle metabolism in cystic fibrosis and primary ciliary dyskinesia | Previous studies have reported differences in muscle function and metabolism between patients with cystic fibrosis (CF) and healthy controls (HC), but it is currently unknown whether these abnormalities are specific to CF or also seen in other airway diseases. In this study, we used magnetic resonance spectroscopy (MRS... | Gold Standard | clinical characteristics or disease pathology | 0 |
20947455 | 11,981,299 | Lactate in cystic fibrosis sputum | Antibiotic therapy is thought to improve lung function in patients with cystic fibrosis (CF) by decreasing neutrophil-derived inflammation. We investigated the origin and clinical significance of lactate in the chronically inflamed CF lung. Lactate was measured in sputa of 18 exacerbated and 25 stable CF patients via s... | Gold Standard | therapeutics in the clinic | 3 |
20961363 | 41,560,815 | Potential of ceragenin CSA-13 and its mixture with pluronic F-127 as treatment of topical bacterial infections | Ceragenin CSA-13 is a synthetic mimic of cationic antibacterial peptides, with facial amphiphilic morphology reproduced using a cholic acid scaffold. Previous data have shown that this molecule displays broad-spectrum antibacterial activity, which decreases in the presence of blood plasma. However, at higher concentrat... | Gold Standard | disease mechanism | 2 |
20970386 | 11,549,209 | Does lacosamide aggravate Lennox-Gastaut syndrome? Report on three consecutive cases | Lennox-Gastaut syndrome is an intractable epileptic encephalopathy, with most patients experiencing daily seizures despite therapy with multiple antiepileptic drugs. New treatments need to be tested to define their efficacy in this syndrome. Lacosamide is a new antiepileptic drug recently approved for the treatment of ... | Gold Standard | therapeutics in the clinic | 3 |
21030607 | 27,154,811 | Physiological relevance of cell-specific distribution patterns of CFTR, NKCC1, NBCe1, and NHE3 along the crypt-villus axis in the intestine | We examined the cell-specific subcellular expression patterns for sodium- and potassium-coupled chloride (NaK2Cl) cotransporter 1 (NKCC1), Na(+) bicarbonate cotransporter (NBCe1), cystic fibrosis transmembrane conductance regulator (CFTR), and Na(+)/H(+) exchanger 3 (NHE3) to understand the functional plasticity and sy... | Gold Standard | disease mechanism | 2 |
21038076 | 6,484,746 | Effect of cytochrome P450 2C19 genotype on voriconazole exposure in cystic fibrosis lung transplant patients | Voriconazole is widely used to treat invasive aspergillosis after lung transplantation. In cystic fibrosis patients, the interindividual variability in drug disposition complicates the optimal voriconazole dosing and increases the risk of toxicity. The objective of this retrospective study was to evaluate the influence... | Gold Standard | disease mechanism | 2 |
21039067 | 11,330,164 | Chronic hepatitis C treatment in a cystic fibrosis patient in the pulmonary pre-transplant stage | The standard treatment of chronic hepatitis C, pegylated interferon and ribavirin (pegI/R), has many limitations in both effectiveness and secondary effects, which makes it unsuitable or even contraindicated for some patients. In hepatitis C virus-infected cystic fibrosis patients this treatment could increase respirat... | Gold Standard | therapeutics in the clinic | 3 |
21131972 | 22,366,493 | CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs | Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsib... | Gold Standard | disease mechanism | 2 |
21146944 | 38,440,608 | Uncovered primary seizure foci in Lennox-Gastaut syndrome after corpus callosotomy | Corpus callosotomy (CC) is a palliative surgical procedure to control atonic, tonic, or generalized tonic-clonic seizure in Lennox-Gastaut syndrome (LGS). Here, we report patients with LGS who underwent resective surgery, following CC better delineating the presumed seizure foci localized in one hemisphere. We retrospe... | Gold Standard | therapeutics in the clinic | 3 |
21169497 | 12,328,525 | Pseudomonas aeruginosa enhances production of an antimicrobial in response to N-acetylglucosamine and peptidoglycan | Pseudomonas aeruginosa is an opportunistic pathogen often associated with chronic lung infections in individuals with the genetic disease cystic fibrosis (CF). Previous work from our laboratory revealed that five genes predicted to be important for catabolism of N-acetylglucosamine (GlcNAc) are induced during in vitro ... | Gold Standard | disease mechanism | 2 |
21204804 | 10,339,015 | STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study | We performed STXBP1 mutation analyses in 86 patients with various types of epilepsies, including 10 patients with OS, 43 with West syndrome, 2 with Lennox-Gastaut syndrome, 12 with symptomatic generalized epilepsy, 14 with symptomatic partial epilepsy, and 5 with other undetermined types of epilepsy. In all patients, t... | Gold Standard | disease mechanism | 2 |
21225838 | 36,432,273 | High yield technique to diagnose immotile cilia syndrome: a suggested algorithm | To determine the efficacy of our nasal brush biopsy technique to diagnose primary ciliary dyskinesia. Retrospective chart review at an urban children's hospital. We obtained medical records of all patients who underwent an endoscopic guided ciliary brush biopsy from January 2000 to June 2008. Data recorded included the... | Gold Standard | clinical characteristics or disease pathology | 0 |
21227654 | 10,045,056 | Interictal epileptiform discharges and asystole | We describe a case of a patient with Lennox-Gastaut syndrome who had asystole and sinus bradycardia during interictal epileptiform abnormalities on EEG. Video-EEG/EKG monitoring prior to corpus callosotomy recorded consistent prolongation of the R-R interval on the EKG during bursts of epileptiform abnormalities (gener... | Gold Standard | clinical characteristics or disease pathology | 0 |
21243535 | 40,614,789 | Cerebellar atrophy in a child with valproate toxicity | In the treatment of epilepsy, selecting an appropriate antiepileptic drug for each individual patient requires matching the patient's clinical needs with the agent's specific pharmacological attributes. In many situations, the final choice of an antiepileptic drug may need a change due to the agent's side-effect profil... | Gold Standard | therapeutics in the clinic | 3 |
21256770 | 15,909,132 | A prospective open-labeled trial with levetiracetam in pediatric epilepsy syndromes: continuous spikes and waves during sleep is definitely a target | Although LVT is currently extensively prescribed in childhood epilepsy, its effect on the panel of refractory epilepsy syndromes has not been entirely evaluated prospectively. In order to study the efficacy and safety of LVT as adjunctive therapy according to syndromes, we included 102 patients with refractory seizures... | Gold Standard | patient-based therapeutics | 4 |
21259449 | 30,219,779 | Screening for symptoms of depression and anxiety in adolescents and young adults with cystic fibrosis | Although studies have assessed symptoms of depression and anxiety in individuals with cystic fibrosis (CF), few have been conducted since the advent of new medical treatments (e.g., nebulized antibiotics, ThAIRpy Vest). Study objectives were to: (1) document symptoms of depression and anxiety for adolescents and young ... | Gold Standard | clinical characteristics or disease pathology | 0 |
21273388 | 15,513,315 | Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia | No study has evaluated the correlation between different expression of nitric oxide synthase (NOS) isoforms in nasal epithelial cells and nasal NO (nNO) level in primary ciliary dyskinesia (PCD). Gene expression of endothelial (NOS3) and inducible NOS (NOS2) and their correlation with nNO level, ciliary function and mo... | Gold Standard | disease mechanism | 2 |
21284095 | 42,083,654 | Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience | Examination of ciliary ultrastructure remains the cornerstone diagnostic test for primary ciliary dyskinesia (PCD), a disease of abnormal ciliary structure and/or function. Obtaining a biopsy with sufficient interpretable cilia and producing quality transmission electron micrographs (TEM) is challenging. Methods for pr... | Gold Standard | clinical characteristics or disease pathology | 0 |
21290179 | 2,327,166 | Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia | BackgroundHereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality.AimThi... | Gold Standard | clinical characteristics or disease pathology | 0 |
21300824 | 559,413 | CCL20/CCR6 feedback exaggerates epidermal growth factor receptor-dependent MUC5AC mucin production in human airway epithelial (NCI-H292) cells | Mucous hypersecretion is an important feature of obstructive airway diseases such as asthma, chronic obstructive pulmonary disease, and cystic fibrosis. Multiple stimuli induce mucin production via activation of an epidermal growth factor receptor (EGFR) cascade, but the mechanisms that exaggerate mucin production in o... | Gold Standard | disease mechanism | 2 |
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