bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spontaneous echocardiographic contrast in three dogs
Authors: Ralph Alan G. , Saunders Ashley B. , Hariu Crystal D. , Nabity Mary 
Published: April 2011

AbstractObjective
–
To describe the clinical presentation and outcome in 3 dogs with spontaneous echocardiographic contrast (SEC).Case or Series Summary
–
SEC was identified in 3 dogs with concurrent hyperfibrinogenemia. The dogs were diagnosed with different underlying conditions including infective endocarditis of the mitral valve (Case 1), presumptive Evan's syndrome (Case 2), and presumptive sepsis (Case 3). Various therapies were used in each case directed at their underlying condition, in addition to thromboprophylaxis that were based upon a perceived risk of thromboembolic disease. The 3 dogs in this series survived to discharge and had good outcome during the follow‐up period, which ranged from 3 weeks to 7 months.New or Unique Information Provided
–
SEC is considered a marker for thromboembolic disease in people and can occur in dogs in the absence of significant cardiomegaly. SEC in these 3 dogs may be related to the documented hyperfibrinogenemia. Further investigation is warranted to determine whether dogs with SEC are at an increased risk for thromboembolic complications.
Thrombectomy and thrombolysis: the interventional radiology approach
Authors: Dunn Marilyn E. 
Published: April 2011

AbstractObjective –To present interventional therapeutic options for patients with thrombosis.Etiology –Thrombosis in small animals results from an unbalance in the normal hemostatic mechanisms leading to vessel occlusion. In veterinary medicine, thrombosis is recognized as a common complication of many acquired diseases, including cardiac, endocrine, immunological, inflammatory, and neoplastic disorders.Diagnosis –Clinical signs are variable depending on the location of the thrombus and various laboratory and imaging modalities can aid in its identification and localization.Therapy –Once identified, a decision must be made to whether or not intervene and which method is most appropriate. A number of minimally invasive approaches for dealing with thrombosis are available and offer veterinarians a choice of therapeutic options when dealing with a thrombotic patient. In the presence of thrombosis, a combined approach of vessel balloon dilatation, catheter‐directed thrombolysis and stenting may be most appropriate. Percutaneous mechanical thrombectomy, if available, may also be appropriate. Embolic trapping devices can be used with vena cava thrombosis to help prevent pulmonary embolism. Anticoagulant therapy may be indicated in the postoperative period to prevent further thrombus formation while the patient's fibrinolytic system breaks the clot down.Prognosis –Outcome is variable depending on the site of the thrombus formation. Arterial thrombosis can be life‐threatening while venous thrombosis tends to be less life‐threatening but may lead to pulmonary embolism.
Ureteral obstructions in dogs and cats: a review of traditional and new interventional diagnostic and therapeutic options
Authors: Berent Allyson C. 
Published: April 2011

AbstractObjective –To describe and review both traditional and newer diagnostic and therapeutic options for canine and feline ureteral obstructions currently being performed clinically in veterinary medicine.Data Sources –A Medline search with no date restrictions was used for this review.Human Data Synthesis –The human literature would support the use of minimally invasive endourological techniques for the treatment of nearly all causes of ureteral obstructions, whenever possible. This typically includes extracorporeal shockwave lithotripsy, intracorporeal lithotripsy via retrograde ureteroscopy or antegrade percutaneous nephroureterolithotomy, ureteral stenting, percutaneous nephrostomy tube placement, and laparoscopic endopyelotomy. Typically open surgery is only suggested in cases of ureteral or gynecological malignancy when en bloc resection is considered a good option, or when various methods of endourological techniques have failed.Veterinary Data Synthesis –The veterinary literature is scarce on the use of interventional endourological techniques for the treatment of ureteral obstructions and has been growing over the last 5 years. The current literature reports the use of extracorporeal shockwave lithotripsy for ureteral stones, as well as the use of ureteral stents for the treatment of trigonal obstructive transitional cell carcinoma, ureterolithiasis, and ureteral strictures. Traditional surgical interventions, like ureterotomy, ureteronephrectomy, and ureteral reimplantation is more vastly reported and accepted. This review will focus on new clinical data using interventional endourological techniques for ureteral obstructions.Conclusions –Various treatment options for ureteral obstructions are now available for veterinary patients, and the trend away from traditional surgical techniques will hopefully be followed now that they are technically and clinically available for dogs and cats.
The core Dravet syndrome phenotype
Authors: Dravet Charlotte 
Published: April 2011

SummaryDravet syndrome was described in 1978 by Dravet (1978) under the name of severe myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed and further delineated by other authors over the years. According to the semiologic features, two forms have been individualized: (1) the typical, core, SMEI; and (2) the borderline form, SMEIB, in which the myoclonic component is absent or subtle. Clinical manifestations at the onset, at the steady state, and during the course of the disease are analyzed in detail for the typical Dravet syndrome, and the differential diagnosis is discussed. Onset in the first year of life by febrile or afebrile clonic and tonic–clonic, generalized, and unilateral seizures, often prolonged, in an apparently normal infant is the first symptom, suggesting the diagnosis. Later on, multiple seizure types, mainly myoclonic, atypical absences, and focal seizures appear, as well as a slowing of developmental and cognitive skills, and the appearance of behavioral disorders. Mutation screening for the SCN1A gene confirms the diagnosis in 70–80% of patients. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years.
Borderline Dravet syndrome: A useful diagnostic category?
Authors: Guerrini Renzo , Oguni Hirokazu 
Published: April 2011

SummaryThe term “borderline” severe myoclonic epilepsy of infancy (SMEIB) has been used to designate patients in whom myoclonic seizures or generalized spike and wave activity are absent. It has also been used loosely to indicate mild forms of the syndrome. It is now acknowledged that the course and outcome of patients with SMEIB are the same as in the core syndrome. The rate of patients exhibiting SCN1A gene mutations is also similar, and it has been observed that the same mutations can cause both typical and “borderline” forms, indicating causal homogeneity. Defining a borderline form of a syndrome would mean setting the criteria of semiology and severity whereby a given phenotype falls within and outside the core syndrome. Such process has never been made for Dravet syndrome and is of course unrealistic in view its polymorphic expression. The eponym Dravet syndrome has been preferred to designate a syndrome spectrum that also embraces SMEIB. Therefore the term “borderline” Dravet syndrome is improper. The definition “mild form” of Dravet syndrome would certainly be more suitable to indicate those patients exhibiting a less severe or incomplete form of the syndrome. Variability in severity favors the concept that SCN1A loss of function causes a spectrum of epilepsy phenotypes in which seizures, often prolonged and precipitated by fever, are the prominent feature and schematic subdivisions would be inappropriate, at least in the early stages. An initial definition of SCN1A gene–related epilepsy would perhaps be more suitable when a mutation of this gene is ascertained and the clinical picture is still ill defined.
Electroencephalographic characteristics of Dravet syndrome
Authors: Bureau Michelle , Bernardina Bernardo Dalla 
Published: April 2011

SummaryIn Dravet syndrome, interictal and ictal electroencephalography (EEG) recording may remain misleading, and are not specifically altered. Moreover, there is a great polymorphism of clinical and EEG seizure types. Some can be observed in other epileptic syndromes, but others are more specific—particularly the peculiar unilateral seizures, the falsely generalized seizures, probably with a focal onset, and the unstable seizures. In some cases, the ictal manifestations are characterized by the persistent predominant recurrence of convulsive seizures, often induced by body temperature increase, eventually associated with partial complex seizures. The myoclonic events, absences with myoclonic component, obtundation status, and photosensitivity and/or pattern sensitivity are absent or appear relatively late and recur transiently for short periods. In these cases interictal EEG is characterized by the persistent paucity of paroxysmal discharges. In other cases, on a background of convulsive seizures and body temperature sensitivity, one may find a variable association of (1) myoclonic seizures of different types, (2) a strong sensitivity to light and pattern stimulations, with early onset and persistent in time. In these cases, interictal paroxysms and spontaneous and induced (intermittent photic stimulation, patterns, and eye closure) stimulation tend to appear early and to be frequent and persistent during the evolution. According to these electroclinical patterns it is possible to divide the population into two subsets, both sharing common genetic mechanisms but with a different clinical outcome.
Cognitive development in children with Dravet syndrome
Authors: Ragona Francesca 
Published: April 2011

SummarySlowing of cognitive skills represents one of the diagnostic criteria of Dravet syndrome. This Italian multicentric study aims at clarifying the roles of epilepsy and/or underlying genetic alteration in determining the cognitive outcome. The study includes infants that were either in follow‐up (retrospective study: 26 cases) and newly diagnosed (prospective study: in progress). Our multicentric study shows that slowing of cognitive achievements becomes evident during the second year of life in all cases, and that the epilepsy phenotype indeed has a prognostic value. In this study the early appearance of absences and myoclonic seizures is associated with the worst cognitive outcome; whereas convulsive prolonged seizures do not seem to represent, per se, a bad prognostic factor for mental outcome. In this study, statistical analysis failed to reveal differences in the cognitive outcome with regard to the presence and type of SCN1A mutation.
Mortality in Dravet syndrome: Search for risk factors in Japanese patients
Authors: Sakauchi Masako , Oguni Hirokazu , Kato Ikuko , Osawa Makiko , Hirose Shinichi , Kaneko Sunao , Takahashi Yukitoshi , Takayama Rumiko , Fujiwara Tateki 
Published: April 2011

SummaryA questionnaire survey was conducted in Japan to investigate the causes and prevalence of death related to Dravet syndrome. The questionnaire was delivered to 246 hospitals at which physicians were treating childhood epilepsy to gain information about the total number of patients with Dravet syndrome and the prevalence of early death due to the disorder. Responses to the survey were collected from 91 hospitals, and a total of 63 of 623 patients with Dravet syndrome had died. Data from 59 of these patients were analyzed. The age at death for these patients ranged from 13 months to 24 years and 11 months, with a median age of 6 years and 8 months. The causes of mortality included sudden death in 31 patients (53%), acute encephalopathy with status epilepticus (SE) in 21 patients (36%), drowning in 6 patients (10%), and other causes in one patient (1%). The incidence of sudden death reached a first peak at 1–3 years of age and a second peak at 18 years and older. In contrast, the incidence of acute encephalopathy with SE reached a peak at 6 years of age. Seven of the 10 patients who underwentSCN1Amutation analysis exhibited positive mutations but exhibited no consistent phenotype. The prevalence of Dravet syndrome–related mortality was 10.1%. The incidence of sudden death and acute encephalopathy with SE was higher in infancy (1–3 years) and at early school ages (with a peak at 6 years), respectively. Neither the treatment nor the number of seizures was associated with any cause of mortality. Factors leading to a fatal outcome are difficult to predict.
Electrical and autonomic cardiac function in patients with Dravet syndrome
Authors: Delogu Angelica B. , Spinelli Antonella , Battaglia Domenica , Dravet Charlotte , De Nisco Alessia , Saracino Annalisa , Romagnoli Costantino , Lanza Gaetano A. , Crea Filippo 
Published: April 2011

SummaryDravet syndrome (DS) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels. Patients with DS have a high risk of sudden unexpected death in epilepsy (SUDEP). In this study we investigated whether patients with DS present abnormalities in electrical and autonomic cardiac function. To this aim we assessed ventricular repolarization and heart rate variability (HRV) on standard electrocardiography (ECG) and on 24‐h ECG Holter monitoring, respectively, in 20 patients affected by DS (6.8 ± 4 years, 11 female). As age‐ and sex‐matched control groups, we also studied 20 patients with other epileptic syndromes receiving antiepileptic drugs (ES/AED, 6.0 ± 5 years, 12 female), 20 patients with other epileptic syndromes without treatment (ES/no‐AED, 6.7 ± 4 years, 10 female), and 20 healthy children (HC, 7.2 ± 5 years, 11 females). Data analysis showed that patients with DS had depressed HRV variables compared to both ES patients (ES/AED and ES/no‐AED) and HC control group, whereas no significant differences in HRV variables were found between ES patients (with and without treatment) and HC. There was no significant difference between patients with DS and all the other control groups in RR intervals, QT, and QTc interval analysis. In conclusion, DS patients display an imbalance of cardiac autonomic function toward a relative predominance of adrenergic tone compared to both healthy children and patients with other forms of epilepsy, independent of antiepileptic therapy. Follow‐up studies should clarify the clinical significance of this autonomic impairment and whether HRV analysis can be helpful in predicting the risk of sudden death in patients with DS.
Molecular and cellular basis: Insights from experimental models of Dravet syndrome
Authors: Yamakawa Kazuhiro 
Published: April 2011

SummaryDravet syndrome is caused by mutations of the SCN1A gene that encodes voltage‐gated sodium channel alpha‐1 subunit. SCN1A‐knock‐in mouse with a disease‐relevant nonsense mutation that we generated well reproduced the disease phenotypes. Both homozygous and heterozygous knock‐in mice developed epileptic seizures within the first postnatal month. In heterozygotes, trains of evoked action potentials in fast‐spiking, inhibitory cells exhibited pronounced spike amplitude decrement late in the burst but not in pyramidal neurons. Furthermore, our immunohistochemical studies showed that in wild‐type mice Nav1.1 is expressed in parvalbumin‐positive inhibitory interneurons (PV cells), dominantly in its axons and moderately in somata, and not expressed in pyramidal cells nor other types of interneurons including somatostatin‐positive and calretinin‐positive cells. These results so far suggest that Nav1.1 expression is largely confined to PV cells and plays critical roles in their spike output, and that impaired function of PV cells would be the cellular basis of Dravet syndrome.
The pharmacologic treatment of Dravet syndrome
Authors: Chiron Catherine , Dulac Olivier 
Published: April 2011

SummaryDravet syndrome (DS) is one of the most pharmacoresistant epilepsy syndromes. Valproate is used as a first‐line agent to prevent the recurrence of febrile seizures and oral/nasal/rectal benzodiazepine is used for any long‐lasting seizures, but these agents are most often insufficient. Lamotrigine, carbamazepine, and high doses of intravenous phenobarbital should be avoided because they may worsen seizures. Topiramate, levetiracetam, bromide, and the ketogenic diet may provide substantial efficacy as adjunctive therapy/procedure. Stiripentol is the only compound that proved its efficacy in DS through two independent randomized placebo‐controlled trials, when combined with valproate and clobazam. Their dose has to be decreased to minimize the side effects (mostly loss of appetite) resulting from pharmacokinetic interactions of stiripentol powerfully inhibiting cytochromes P450. Stiripentol acts as a γ‐aminobutyric acid (GABA)ergic agent, mainly via the α3 subunit of GABAA receptors. Stiripentol (Diacomit) was approved as an orphan drug in 2007 in Europe for adjunctive therapy in DS. Up to now, >500 children have been safely treated, and recent experiment in Japan confirmed stiripentol benefit in DS children with comedications other than valproate and clobazam. Because early status epilepticus is likely to negatively impact cognitive outcome, we recommend the introduction of stiripentol as soon as the diagnosis of DS is clinically confirmed. Topiramate and the ketogenic diet are alternatives in pharmacoresistant cases.
Nonpharmacologic treatments of Dravet syndrome: Focus on the ketogenic diet
Authors: Caraballo Roberto Horacio 
Published: April 2011

SummaryWe present an update of our experience with the ketogenic diet (KD) in patients with Dravet syndrome (DS) to evaluate the efficacy and tolerability and our short experience with vagus nerve stimulation (VNS) in the treatment of this syndrome. Between March 1, 1990 and May 31, 2007, 59 patients who met diagnostic criteria for DS were studied in our department. Twenty‐four of them were placed on the KD and were followed up for a minimum of 2 years. Three patients were treated with VNS. Sixteen (66.6%) of 24 patients remained on the diet. Two patients (12.5%) became seizure free, 10 children (62.5%) had a 75–99% decrease in seizures, and the remaining 4 children (25%) had a 50–74% decrease in seizures. Six patients have been off the diet for >2 years; one of them is seizure free, two have sporadic seizures, and three, who abandoned the diet after 3 years of adhering to it, relapsed. As to the efficacy of VNS, two patients had a 50–74% decrease in seizures and in the other seizure frequency remained unchanged. The device was well tolerated in all patients without significant complications. Considering the severity and refractarity of seizures in patients with DS, the fact that 12 of 16 children who remained on the diet had a significant reduction in number of seizures shows that the KD is at present an interesting therapeutic option. VNS may be a good alternative treatment for DS.
The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example
Authors: Black Angela P. , Baker Marie 
Published: April 2011

SummaryThe development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, not only in the way rare diseases are diagnosed, studied, and treated, but also in how they are addressed at the level of legislation and public policy. The International Dravet syndrome Epilepsy Action League (IDEA League) is the leading patient advocacy organization for Dravet syndrome and related genetic ion‐channel epilepsy disorders (hereafter referred to as Dravet syndrome or severe myoclonic epilepsy of infancy, SMEI). The IDEA League’s mission encompasses international support and outreach for patients and families, as well as collaboration with physicians, medical education, health care coordination, and research. The IDEA League is an excellent example of the impact of patient advocacy groups, the Internet, and social networking on the landscape of rare diseases.
Effect of Disinfection and Accelerated Aging on Color Stability of Colorless and Pigmented Facial Silicone
Authors: Pesqueira Aldiéris Alves , Goiato Marcelo Coelho , dos Santos Daniela Micheline , Haddad Marcela Filié , Ribeiro Paula do Prado , Coelho Sinhoreti Mário Alexandre , Sundefeld Maria Lúcia Marçal Mazza 
Published: April 2011

Abstract Purpose: The aim of this study was to evaluate the color stability of a facial silicone with different pigmentations submitted to disinfection and accelerated aging. Materials and Methods: Sixty replicas were fabricated with the silicone Silastic MDX 4‐4210 and divided into three groups: no pigmentation, pigmentation with makeup powder, and pigmentation with ceramic powder. Half the replicas of each group were submitted to disinfection with Efferdent and the other with neutral soap for 60 days (n = 10). After this period, all replicas were inserted in a chamber for accelerated aging of nonmetallic specimens. The color measurements were carried out initially, after disinfection, and after accelerated aging (252, 504, 1008 hours). Color stability was evaluated through spectrophotometry. The values were submitted to ANOVA and the means to Tukey's test (p < 0.01). Results: The specimens disinfected with neutral soap exhibited higher ΔE values regardless of the type of pigmentation. The colorless replicas and the specimens pigmented with ceramic exhibited a statistically significant difference between the methods of disinfection in all periods. The specimens pigmented with makeup powder did not demonstrate a statistically significant difference. Conclusions: The ceramic pigment presented greater color stability regardless of disinfection and period. On the other hand, the makeup pigment exhibited the highest values of chromatic alteration.
Epidemiology and Etiology of Denture Stomatitis
Authors: Gendreau Linda , Loewy Zvi G. 
Published: April 2011

AbstractDenture stomatitis, a common disorder affecting denture wearers, is characterized as inflammation and erythema of the oral mucosal areas covered by the denture. Despite its commonality, the etiology of denture stomatitis is not completely understood. A search of the literature was conducted in the PubMed electronic database (through November 2009) to identify relevant articles for inclusion in a review updating information on the epidemiology and etiology of denture stomatitis and the potential role of denture materials in this disorder. Epidemiological studies report prevalence of denture stomatitis among denture wearers to range from 15% to over 70%. Studies have been conducted among various population samples, and this appears to influence prevalence rates. In general, where reported, incidence of denture stomatitis is higher among elderly denture users and among women. Etiological factors include poor denture hygiene, continual and nighttime wearing of removable dentures, accumulation of denture plaque, and bacterial and yeast contamination of denture surface. In addition, poor‐fitting dentures can increase mucosal trauma. All of these factors appear to increase the ability of Candida albicans to colonize both the denture and oral mucosal surfaces, where it acts as an opportunistic pathogen. Antifungal treatment can eradicate C. albicans contamination and relieve stomatitis symptoms, but unless dentures are decontaminated and their cleanliness maintained, stomatitis will recur when antifungal therapy is discontinued. New developments related to denture materials are focusing on means to reduce development of adherent biofilms. These may have value in reducing bacterial and yeast colonization, and could lead to reductions in denture stomatitis with appropriate denture hygiene.