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Sample records for pediatric narcolepsy diagnosis

  1. The diagnosis and treatment of pediatric narcolepsy.

    PubMed

    Nevsimalova, Sona

    2014-08-01

    Narcolepsy in children is a serious disorder marked by a chronic course and lifelong handicap in school performance and choice of employment, by free time activity limitation, and by behavior and personality changes, all of which constitute a major influence on the quality of life. Increased daytime sleepiness may be the only sign at the disease onset, with attacks of sleep becoming longer and lasting up to hours. Also present may be confusional arousals with features of sleep drunkenness. Paradoxically, preschool and young children may show inattentiveness, emotional lability, and hyperactive behavior. Cataplexy may develop after onset of sleepiness and affect mainly muscles of the face. Hypnagogic hallucinations and sleep paralysis are seldom present. Multiple Sleep Latency Test criteria are not available for children younger than 6 years. The haplotype (HLA-DQB1:0602) can be associated with the disorder; however, the best predictor of narcolepsy-cataplexy is hypocretin deficiency. The treatment generally used in adults is regarded as off-label in childhood, which is why the management of pediatric narcolepsy is difficult. PMID:24954623

  2. Cases of pediatric narcolepsy after misdiagnoses.

    PubMed

    Kauta, Shilpa R; Marcus, Carole L

    2012-11-01

    Narcolepsy is characterized by recurrent brief attacks of irresistible sleepiness. Signs can begin during childhood. However, diagnoses are frequently delayed by 10-15 years because of unfamiliarity with pediatric narcolepsy and variable presentations of its associated features (cataplexy, hypnagogic/hypnopompic hallucinations, and sleep paralysis). Therefore, patients may remain untreated during their formative years. Three children with narcolepsy who were initially misdiagnosed are described. Each child's signs were initially related to depression, hypothyroidism, jaw dysfunction, or conversion disorder. However, after a multiple sleep latency test, the diagnosis of narcolepsy was established. All three patients were treated appropriately with stimulant medications, selective serotonin reuptake inhibitors, or sodium oxybate, and demonstrated positive responses. Although no definitive cure exists for narcolepsy, early recognition and appropriate symptomatic treatment with medications can allow affected children to improve quality of life and achieve normality, both academically and socially. PMID:23044019

  3. Narcolepsy in the pediatric population.

    PubMed

    Viorritto, Erick N; Kureshi, Suraiya A; Owens, Judith A

    2012-04-01

    Narcolepsy is characterized by excessive daytime sleepiness, with or without cataplexy. Associated features include sleep paralysis, hypnagogic or hypnopompic hallucinations, and disturbed nocturnal sleep. Narcolepsy is strongly associated with the HLA DQB1*0602 allele, and its symptoms stem from destruction of hypocretin-secreting neurons in the hypothalamus. Recently identified autoantibodies to Tribbles homologue 2 in some patients, as well as cases associated with H1N1 vaccination, support an autoimmune mechanism. There are many challenges in diagnosing and treating pediatric narcolepsy. Caution must also be used in interpreting polysomnography and multiple sleep latency test results in children. HLA testing is nonspecific, and no commercial test exists to measure cerebrospinal fluid hypocretin levels. Neuroimaging has not yet proven useful in primary narcolepsy. Treatment of sleepiness and cataplexy in children requires extrapolating from adult studies. Hopefully, further insights into the pathophysiology of narcolepsy will allow for new therapeutics to manage the symptoms and modify the course of the disease. PMID:22213222

  4. Pediatric narcolepsy: clinical and therapeutical approaches.

    PubMed

    Michel, Lecendreux

    2013-01-01

    Narcolepsy occurs during childhood in combination with cataplexy in one-third of the subjects. Symptoms may develop rapidly over a few weeks or months, with excessive daytime sleepiness and cataplexy being the most dramatic and observable symptoms. It can be secondary to brain tumors or several rare diseases, but in most cases narcolepsy with or without cataplexy is a primary condition, better explained by the selective loss of hypocretin neurons in posterolateral hypothalamus. A specific HLA allele, HLA-DQB1*0602, is involved and the disease is thought to be autoimmune. Tribbles 2-specific antibodies have been identified. Recent medications have greatly improved the symptoms and wellbeing of young patients. However, these treatments are delivered off-label in the pediatric population. There is an absolute necessity for well-conducted clinical trials in order to improve treatment in children and adolescents with narcolepsy and to evaluate clinical efficacy and good tolerance of medications. Nonpharmacological approaches are certainly helpful and should be promoted systematically, especially in very young children. Narcolepsy of recent onset in children or adolescents should be considered a therapeutic emergency, even though immunotherapy is still controversial. PMID:23622291

  5. [Narcolepsy].

    PubMed

    Mayer, G

    2014-01-01

    Narcolepsy is a rare sleep disorder. The classical presentation includes the four symptoms excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic hallucinations. As a model disease with all the transitions from awake to sleeping conditions, non-rapid eye movement (NREM) and rapid eye movement (REM), it plays an important role in neurology and sleep medicine. Patients with narcolepsy possess a reduced number of hypocretin-producing neurons in the hypothalamus and accordingly the hypocretin level in the cerebrospinal fluid is low. The neuropeptide hypocretin (orexin) has functions, such as the regulation of the sleep-wake cycle, the autonomous nerve system, motor system and metabolic processes. The delay in diagnosing narcolepsy is difficult to comprehend in modern medicine. The frequent association with other sleep-wake disorders may be responsible for the delay. Genomewide association studies have subsequently been able to prove that autoimmune mechanisms are responsible for the manifestation of narcolepsy with the HLA association being the most important for susceptibility and protection. Imaging studies have revealed neurodegenerative changes, making a multifactorial etiopathogenesis probable. The frequent occurrence of metabolic disorders has not yet been clarified. Early diagnosis of narcolepsy has the possibility to offer affected persons an adequate medication to lead an almost normal life and the future possibility to cure narcolepsy through immunomodulation therapy. PMID:24408296

  6. [Narcolepsy: etiology, clinical features, diagnosis and treatment].

    PubMed

    Zawilska, Jolanta B; Woldan-Tambor, Agata; Płocka, Anna; Kużajska, Katarzyna; Wojcieszak, Jakub

    2012-01-01

     Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions. PMID:23175331

  7. Pharmacological management of narcolepsy and cataplexy in pediatric patients.

    PubMed

    Lecendreux, Michel

    2014-10-01

    Narcolepsy is a neurological disorder frequently occurring from childhood and persisting through adolescence and adulthood. Individuals suffering from narcolepsy exhibit excessive daytime somnolence, sleep attacks, cataplexy, dysomnia, metabolic perturbations including weight gain, and problems in social interaction and academic performance. The prevalence of narcolepsy in childhood is not known but can be estimated from adult studies to be greater than 20-60 per 100,000 in Western countries. The 2009 (A) H1N1 vaccination campaign led to an increase of narcoleptic cases both in children and in adults, supporting the autoimmune hypothesis of the disease. This article focuses on the epidemiology, etiology, and particularities of treatment in pediatric narcolepsy and details the effects of the drugs used to treat this condition, including recent trends in the field. Future therapeutic directions are also discussed. At present, medications used to treat children or adolescents have shown efficacy mostly based on clinical experience, given the lack of level 1 evidence-based studies in the pediatric population. Therefore, most compounds used in adult narcolepsy to target clinical symptoms such as wake-promoting or anticataplectic agents are prescribed off-label in pediatric patients. Published research shows the benefit of drug therapy for narcoleptic children, but these must be dispensed with caution in the absence of well conducted clinical trials. PMID:25074415

  8. Narcolepsy in the older adult: epidemiology, diagnosis and management.

    PubMed

    Chakravorty, Sangeeta S; Rye, David B

    2003-01-01

    Narcolepsy is a disorder of impaired expression of wakefulness and rapid-eye-movement (REM) sleep. This manifests as excessive daytime sleepiness and expression of individual physiological correlates of REM sleep that include cataplexy and sleep paralysis (REM sleep atonia intruding into wakefulness), impaired maintenance of REM sleep atonia (e.g. REM sleep behaviour disorder [RBD]), and dream imagery intruding into wakefulness (e.g. hypnagogic and hypnopompic hallucinations). Excessive sleepiness typically begins in the second or third decade followed by expression of auxiliary symptoms. Only cataplexy exhibits a high specificity for diagnosis of narcolepsy. While the natural history is poorly defined, narcolepsy appears to be lifelong but not progressive. Mild disease severity, misdiagnoses or long delays in cataplexy expression often cause long intervals between symptom onset, presentation and diagnosis. Only 15-30% of narcoleptic individuals are ever diagnosed or treated, and nearly half first present for diagnosis after the age of 40 years. Attention to periodic leg movements (PLM), sleep apnoea and RBD is particularly important in the management of the older narcoleptic patient, in whom these conditions are more likely to occur. Diagnosis requires nocturnal polysomnography (NPSG) followed by multiple sleep latency testing (MSLT). The NPSG of a narcoleptic patient may be totally normal, or demonstrate the patient has a short nocturnal REM sleep latency, exhibits unexplained arousals or PLM. The MSLT diagnostic criteria for narcolepsy include short sleep latencies (<8 minutes) and at least two naps with sleep-onset REM sleep. Treatment includes counselling as to the chronic nature of narcolepsy, the potential for developing further symptoms reflective of REM sleep dyscontrol, and the hazards associated with driving and operating machinery. Elderly narcoleptic patients, despite age-related decrements in sleep quality, are generally less sleepy and less likely to

  9. Narcolepsy in pediatric age - Experience of a tertiary pediatric hospital.

    PubMed

    Dias Costa, Filipa; Barreto, Maria Inês; Clemente, Vanda; Vasconcelos, Mónica; Estêvão, Maria Helena; Madureira, Núria

    2014-03-01

    Narcolepsy, a chronic disorder of the sleep-wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.8 and 10.5 years of age. Diagnostic delay ranged from 4 months to 2 years. One child had H1N1 flu vaccination eight months before the clinical onset. The first multiple sleep latency test was positive in 6 of 8 cases. All cases were treated with methylphenidate, and venlafaxine was associated in 4 of them. In one case the initial therapy was exclusively behavioral. In all cases, symptomatic improvement, better school performance and social integration were achieved after therapeutic adjustment. PMID:26483902

  10. Usefulness of a Nocturnal SOREMP for Diagnosing Narcolepsy with Cataplexy in a Pediatric Population

    PubMed Central

    Reiter, Joel; Katz, Eliot; Scammell, Thomas E.; Maski, Kiran

    2015-01-01

    Study Objectives: We investigated the diagnostic accuracy of a nocturnal sleep onset rapid eye movement sleep period (nSOREMP) for the identification of narcolepsy with cataplexy (N+C) among children and adolescents referred to the sleep laboratory for an overnight polysomnography (PSG) and multiple sleep latency test (MSLT). Design: Retrospective chart review of sleep clinic notes and PSG and MSLT reports. Setting: Boston Children's Hospital sleep laboratory and outpatient clinics. Patients: All patients 6–18 y old, referred for consecutive PSG and MSLT for the evaluation of central hypersomnias, between January 2005 and January 2014. Measurements and Results: We analyzed the records of 148 patients and established diagnostic categories using the International Classification of Sleep Disorders, 2nd Edition. Patient diagnoses included narcolepsy with cataplexy (28.4%), narcolepsy without cataplexy (8.1%), other hypersomnia conditions (9.5%), delayed sleep phase syndrome (12.2%), behaviorally induced insufficient sleep syndrome (4.1%), other sleep disorders (obstructive sleep apnea, periodic limb movements of sleep; 6.8%), isolated cataplexy (2%), and various diagnoses (29.1%). There were 54.8% of the N+C patients who had an nSOREMP, but only 2.4% of all other patients had an nSOREMP. The specificity of an nSOREMP for detection of N+C was high at 97.3% (95% confidence interval [CI]: 92.2–99.4%), but the sensitivity was moderate at 54.8% (95% CI: 38.7–70.2%). Overall, the positive predictive value of an nSOREMP for the diagnosis of N+C was 88.5% (95% CI: 69.8–97.4%). Conclusions: In children, the presence of an nocturnal sleep onset rapid eye movement sleep period is highly suggestive of narcolepsy with cataplexy and provides further evidence of rapid eye movement sleep dysregulation in this condition. Citation: Reiter J, Katz E, Scammell TE, Maski K. Usefulness of a nocturnal SOREMP for diagnosing narcolepsy with cataplexy in a pediatric population. SLEEP

  11. The Impact of Gender on Timeliness of Narcolepsy Diagnosis

    PubMed Central

    Won, Christine; Mahmoudi, Mandana; Qin, Li; Purvis, Taylor; Mathur, Aditi; Mohsenin, Vahid

    2014-01-01

    Study Objectives: To examine the impact of gender in narcoleptic patients on timeliness of diagnosis, symptomology, and health and lifestyle impairment Methods: This is a cross-sectional study of 109 consecutive patients (68 women) with newly diagnosed narcolepsy with and without cataplexy, from a University sleep disorders center. Consecutive patients were administered an 8-page questionnaire at the time of their diagnosis regarding sleep habits, medications, and medical conditions, lifestyle impairments, as well as details regarding narcolepsy-related symptoms. Results: Men and women presented with remarkably similar narcolepsy related symptoms, yet women were more likely to be delayed in diagnosis; 85% of men were likely to be diagnosed by 16 years after symptom onset, compared to 28 years in women. More women were likely to remain undiagnosed at any given time point after symptom onset (hazard ratio for diagnosis of men compared to women 1.53; 95% CI 1.01-2.32; p = 0.04). Men and women reported similar degree of subjective sleepiness as measured by the Epworth Sleepiness Scale (mean 16.2 ± 4.5; p = 0.18), though women demonstrated significantly more severe objective sleepiness on multiple sleep latency testing (MSLT) (mean sleep latency in women = 5.4 min (± 4.1), in men 7.4 min (± 3.5); p = 0.03). Despite being more objectively sleepy, women were less likely to report lifestyle impairments in the areas of personal relationships (71% men, 44% women, p = 0.01) and physical activity (36% men, 16% women, p = 0.02), but were also more likely to self-medicate with caffeine (63.4% men, 82.4% women; p = 0.03). Conclusions: Narcolepsy impacts men and women's health and lifestyle differently, and may cause delays diagnosis for women. Citation: Won C; Mahmoudi M; Qin L; Purvis T; Mathur A; Mohsenin V. The impact of gender on timeliness of narcolepsy diagnosis. J Clin Sleep Med 2014;10(1):89-95. PMID:24426826

  12. Attention-Deficit/Hyperactivity Disorder (ADHD) Symptoms in Pediatric Narcolepsy: A Cross-Sectional Study

    PubMed Central

    Lecendreux, Michel; Lavault, Sophie; Lopez, Régis; Inocente, Clara Odilia; Konofal, Eric; Cortese, Samuele; Franco, Patricia; Arnulf, Isabelle; Dauvilliers, Yves

    2015-01-01

    Study Objectives: To evaluate the frequency, severity, and associations of symptoms of attention-deficit/hyperactivity disorder (ADHD) in children with narcolepsy with and without cataplexy. Design: Cross-sectional survey. Setting: Four French national reference centers for narcolepsy. Patients: One hundred eight consecutively referred children aged younger than 18 y with narcolepsy, with (NwC, n = 86) or without cataplexy (NwoC, n = 22), and 67 healthy controls. Interventions: The participants, their families, and sleep specialists completed a structured interview and questionnaires about sleep, daytime sleepiness, fatigue, and ADHD symptoms (ADHD-rating scale based upon Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision [DSM-IV-TR] symptoms), and use of psychostimulants for the treatment of narcolepsy (administered in 68.2%). Polysomnographic measures were collected. Measurements and Results: Clinically significant levels of ADHD symptoms were found in 4.8% of controls compared with 35.3% in patients with NwoC (P < 0.001) and 19.7% in patients with NwC (P < 0.01). Total ADHD scores were 6.4 (95% confidence interval [CI]: 4.5, 9.0) in controls compared with 14.2 (95% CI: 10.6, 18.9; P < 0.001), in patients with NwoC and 12.2 (95% CI: 9.8, 15.3; P < 0.01) in patients with NwC; subscores of inattention and hyperactivity/impulsivity were also significantly higher in both narcolepsy groups compared with controls. No difference was found between the NwC and NwoC groups for any ADHD measure. ADHD symptom severity was associated with increased levels of sleepiness, fatigue, and insomnia. Compared with the 34 untreated patients, the 73 patients treated with psychostimulants (modafinil in 91%) showed a trend toward lower narcolepsy symptoms but not lower ADHD symptoms. Conclusions: Pediatric patients with narcolepsy have high levels of treatment-resistant attention-deficit/hyperactivity disorder (ADHD) symptoms. The optimal treatment for

  13. Patients' journeys to a narcolepsy diagnosis: a physician survey and retrospective chart review.

    PubMed

    Carter, Lawrence P; Acebo, Christine; Kim, Ann

    2014-05-01

    Narcolepsy is a lifelong disorder with potentially debilitating symptoms. Obtaining an accurate diagnosis often requires multiple tests and physician visits. This report describes results from an online, quantitative, company-sponsored survey in which physicians provided information from the charts of their patients with narcolepsy. Neurologists, pulmonologists, psychiatrists, and other specialists who were board certified in sleep medicine; had 2 to 30 years of clinical experience; and treated ≥ 5 narcolepsy patients per month were invited to complete ≤ 6 surveys using charts of patients who were treated for narcolepsy in the last 6 months. Data from 252 patients were collected from 77 physicians. Patients were predominantly male (55%), white (67%), and had a median age of 38 years (range: 12-83 years). Referral to the respondent physician was common, mainly from primary care physicians. The most common initial symptoms were excessive daytime sleepiness (91%), trouble staying awake during the day (44%), and trouble concentrating/functioning during the day (43%). Overall, initial symptoms were of at least moderate severity in 85% of patients. Most patients completed overnight polysomnography (83%), a Multiple Sleep Latency Test (76%), and/or the Epworth Sleepiness Scale (62%). The median time from patient-reported symptom onset to diagnosis was 22 months (range: 0-126 months); at least half saw ≥ 2 providers before being diagnosed; and 60% of patients had previously been misdiagnosed with other disorders, including depression (31%), insomnia (18%), and/or obstructive sleep apnea (13%). In this study, the journey to a narcolepsy diagnosis required evaluation by multiple physicians and took nearly 2 years in 50% of patients, and > 5 years in 18%. These data highlight the need for increased awareness of the signs and symptoms of narcolepsy. PMID:24918805

  14. Narcolepsy in pediatric age – Experience of a tertiary pediatric hospital

    PubMed Central

    Dias Costa, Filipa; Barreto, Maria Inês; Clemente, Vanda; Vasconcelos, Mónica; Estêvão, Maria Helena; Madureira, Núria

    2014-01-01

    Narcolepsy, a chronic disorder of the sleep–wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.8 and 10.5 years of age. Diagnostic delay ranged from 4 months to 2 years. One child had H1N1 flu vaccination eight months before the clinical onset. The first multiple sleep latency test was positive in 6 of 8 cases. All cases were treated with methylphenidate, and venlafaxine was associated in 4 of them. In one case the initial therapy was exclusively behavioral. In all cases, symptomatic improvement, better school performance and social integration were achieved after therapeutic adjustment. PMID:26483902

  15. Increased Mortality in Narcolepsy

    PubMed Central

    Ohayon, Maurice M.; Black, Jed; Lai, Chinglin; Eller, Mark; Guinta, Diane; Bhattacharyya, Arun

    2014-01-01

    Objective: To evaluate the mortality rate in patients with narcolepsy. Design: Data were derived from a large database representative of the US population, which contains anonymized patient-linked longitudinal claims for 173 million individuals. Setting: Symphony Health Solutions (SHS) Source Lx, an anonymized longitudinal patient dataset. Patients/Participants: All records of patients registered in the SHS database between 2008 and 2010. Interventions: None Measurements and Results: Identification of patients with narcolepsy was based on ≥ 1 medical claim with the diagnosis of narcolepsy (ICD-9 347.xx) from 2002 to 2012. Dates of death were acquired from the Social Security Administration via a third party; the third party information was encrypted in the same manner as the claims data such that anonymity is ensured prior to receipt by SHS. Annual all-cause mortality rates for 2008, 2009, and 2010 were calculated retrospectively for patients with narcolepsy and patients without narcolepsy in the database, and standardized mortality ratios (SMR) were calculated. Mortality rates were also compared with the general US population (Centers for Disease Control data). SMRs of the narcolepsy population were consistent over the 3-year period and showed an approximate 1.5-fold excess mortality relative to those without narcolepsy. The narcolepsy population had consistently higher mortality rates relative to those without narcolepsy across all age groups, stratified by age decile, from 25-34 years to 75+ years of age. The SMR for females with narcolepsy was lower than for males with narcolepsy. Conclusions: Narcolepsy was associated with approximately 1.5-fold excess mortality relative to those without narcolepsy. While the cause of this increased mortality is unknown, these findings warrant further investigation. Citation: Ohayon MM; Black J; Lai C; Eller M; Guinta D; Bhattacharyya A. Increased mortality in narcolepsy. SLEEP 2014;37(3):439-444. PMID:24587565

  16. Differential diagnosis in pediatric radiology

    SciTech Connect

    Grunebaum, M.

    1986-01-01

    This work presents 415 tables of differential diagnosis applicable to pediatric radiology, emphasizing clinical presentation and the findings of conventional radiographs. The six chapters cover the respiratory, cardiovascular, urinary, gastrointestinal, and skeletal systems, and the head. The first few tables in each chapter cover major clinical signs, the next few deal with the newborn period only, and the remainder deal with radiographic differential diagnoses seen in children. An index and brief reference list complete the book.

  17. [NARCOLEPSY WITH CATAPLEXY: TYPE 1 NARCOLEPSY].

    PubMed

    Dauvilliers, Yves; Lopez, Régis

    2016-06-01

    Narcolepsy with cataplexy or narcolepsy type 1 in a rare, disabling sleep disorder, with a prevalence of 20 to 30 per 100,000. Its onset peaks in the second decade. The main features are excessive daytime sleepiness and cataplexy or sudden less of muscle tone triggered by emotional situations. Other less consistent symptoms include hypnagogic hallucinations, sleep paralysis, disturbed nighttime sleep, and weight gain. Narcolepsy with cataplexy remains a clinical diagnosis but nighttime and daytime polysomnography (multiple sleep latency tests) are useful to document mean sleep latency below 8 min and at least two sleep-onset REM periods. HLA typing shows an association with HLA DQB1*0602 in more than 92% of cases but was not included in the new diagnostic criteria. In contrast, a low hypocretin-1/orexin-A levels (values below 110 pg/mL) in the cerebrospinal fluid was highly specific for narcolepsy with cataplexy and was included in the recent diagnostic criteria for narcolepsy. The deficiency of the hypocretin system is well-established in human narcoleptics with a reduction of cerebrospinal fluid hypocretin levels in relation with an early loss of hypocretin neurons. The cause of human narcolepsy remains unknown, however an autoimmune process in most probable acting on a highly genetic background with environmental factors such as streptococcal infections, and H1N1 AS03-adjuvanted vaccine named Pandemrix. PMID:27538328

  18. Tolerance and Efficacy of Sodium Oxybate in Childhood Narcolepsy with Cataplexy: A Retrospective Study

    PubMed Central

    Lecendreux, Michel; Poli, Francesca; Oudiette, Delphine; Benazzouz, Fatima; Donjacour, Claire E.H.M; Franceschini, Christian; Finotti, Elena; Pizza, Fabio; Bruni, Oliviero; Plazzi, Giuseppe

    2012-01-01

    Narcolepsy with cataplexy is a sleep disorder characterized by excessive daytime sleepiness, irresistible sleep episodes, and sudden loss of muscle tone (cataplexy) mostly triggered by emotions. Narcolepsy with cataplexy is a disabling lifelong disorder frequently arising during childhood. Pediatric narcolepsy often results in severe learning and social impairment. Improving awareness about this condition increases early diagnosis and may allow patients to rapidly access adequate treatments, including pharmacotherapy and/or non-medication-based approaches. Even though children currently undergo pharmacotherapy, data about safety and efficacy in the pediatric population are scarce. Lacking international guidelines as well as drugs registered for childhood narcolepsy with cataplexy, physicians have no other alternative but to prescribe in an off-label manner medications identical to those recommended for adults. We retrospectively evaluated 27 children ranging from 6 to 16 years old, suffering from narcolepsy with cataplexy, who had been treated with off-label sodium oxybate and had been followed in a clinical setting. Throughout a semi-structured interview, we documented the good efficacy and tolerability of sodium oxybate in the majority of the patients. This study constitutes a preliminary step towards a further randomized controlled trial in childhood narcolepsy with cataplexy. Citation: Lecendreux M; Poli F; Oudiette D; Benazzouz F; Donjacour CEHM; Franceschini C; Finotti E; Pizza F; Bruni O; Plazzi G. Tolerance and efficacy of sodium oxybate in childhood narcolepsy with cataplexy: a retrospective study. SLEEP 2012;35(5):709-711. PMID:22547897

  19. Tolerance and efficacy of sodium oxybate in childhood narcolepsy with cataplexy: a retrospective study.

    PubMed

    Lecendreux, Michel; Poli, Francesca; Oudiette, Delphine; Benazzouz, Fatima; Donjacour, Claire E H M; Franceschini, Christian; Finotti, Elena; Pizza, Fabio; Bruni, Oliviero; Plazzi, Giuseppe

    2012-05-01

    Narcolepsy with cataplexy is a sleep disorder characterized by excessive daytime sleepiness, irresistible sleep episodes, and sudden loss of muscle tone (cataplexy) mostly triggered by emotions. Narcolepsy with cataplexy is a disabling lifelong disorder frequently arising during childhood. Pediatric narcolepsy often results in severe learning and social impairment. Improving awareness about this condition increases early diagnosis and may allow patients to rapidly access adequate treatments, including pharmacotherapy and/or non-medication-based approaches. Even though children currently undergo pharmacotherapy, data about safety and efficacy in the pediatric population are scarce. Lacking international guidelines as well as drugs registered for childhood narcolepsy with cataplexy, physicians have no other alternative but to prescribe in an off-label manner medications identical to those recommended for adults. We retrospectively evaluated 27 children ranging from 6 to 16 years old, suffering from narcolepsy with cataplexy, who had been treated with off-label sodium oxybate and had been followed in a clinical setting. Throughout a semi-structured interview, we documented the good efficacy and tolerability of sodium oxybate in the majority of the patients. This study constitutes a preliminary step towards a further randomized controlled trial in childhood narcolepsy with cataplexy. PMID:22547897

  20. Narcolepsy Following Yellow Fever Vaccination: A Case Report.

    PubMed

    Rosch, Richard E; Farquhar, Michael; Gringras, Paul; Pal, Deb K

    2016-01-01

    Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental factors can "trigger" narcolepsy with cataplexy in a genetically susceptible population. Here, we describe the case of a 13-year-old boy with narcolepsy following yellow fever vaccination. He carries the HLA DQB1*0602 haplotype strongly associated with narcolepsy and cataplexy. Polysomnography showed rapid sleep onset with rapid eye movement (REM) latency of 47 min, significant sleep fragmentation and a mean sleep latency of 1.6 min with sleep onset REM in four out of four nap periods. Together with the clinical history, these findings are diagnostic of narcolepsy type 1. The envelope protein E of the yellow fever vaccine strain 17D has significant amino acid sequence overlap with both hypocretin and the hypocretin receptor 2 receptors in protein regions that are predicted to act as epitopes for antibody production. These findings raise the question whether the yellow fever vaccine strain may, through a potential molecular mimicry mechanism, be another infectious trigger for this neuro-immunological disorder. PMID:27559330

  1. Narcolepsy Following Yellow Fever Vaccination: A Case Report

    PubMed Central

    Rosch, Richard E.; Farquhar, Michael; Gringras, Paul; Pal, Deb K.

    2016-01-01

    Narcolepsy with cataplexy is a rare, but important differential diagnosis for daytime sleepiness and atonic paroxysms in an adolescent. A recent increase in incidence in the pediatric age group probably linked to the use of the Pandemrix influenza vaccine in 2009, has increased awareness that different environmental factors can “trigger” narcolepsy with cataplexy in a genetically susceptible population. Here, we describe the case of a 13-year-old boy with narcolepsy following yellow fever vaccination. He carries the HLA DQB1*0602 haplotype strongly associated with narcolepsy and cataplexy. Polysomnography showed rapid sleep onset with rapid eye movement (REM) latency of 47 min, significant sleep fragmentation and a mean sleep latency of 1.6 min with sleep onset REM in four out of four nap periods. Together with the clinical history, these findings are diagnostic of narcolepsy type 1. The envelope protein E of the yellow fever vaccine strain 17D has significant amino acid sequence overlap with both hypocretin and the hypocretin receptor 2 receptors in protein regions that are predicted to act as epitopes for antibody production. These findings raise the question whether the yellow fever vaccine strain may, through a potential molecular mimicry mechanism, be another infectious trigger for this neuro-immunological disorder. PMID:27559330

  2. Pediatric hip sonography. Diagnosis and differential diagnosis.

    PubMed

    Harcke, H T; Grissom, L E

    1999-07-01

    As with any sonographic study, the accuracy of the examination is related to the skill and experience of the examiner. In this review of pediatric hip sonography, we have reviewed pitfalls and differential diagnoses for the infant suspected of DDH and for the older child presenting with a painful hip. The learning process for DDH evaluation is prolonged and more difficult than learning to assess the hip for effusion. PMID:10442081

  3. The Economic Consequences of Narcolepsy

    PubMed Central

    Jennum, Poul; Knudsen, Stine; Kjellberg, Jakob

    2009-01-01

    Background: Narcolepsy is a chronic neurodegenerative disorder with a typical onset in childhood or early adulthood. Narcolepsy may have serious negative effects on health-, social-, education-, and work-related issues for people with narcolepsy and for their families. The disease may, thus, present a significant socioeconomic burden, but no studies to date have addressed the indirect and direct costs of narcolepsy. Methods: Using records from the Danish National Patient Registry (1998-2005), we identified 459 Danish patients with the diagnosis of narcolepsy. Using a ratio of 1 patient record to 4 control subjects’ records, we then compared the information of patients with narcolepsy with that of 1836 records from age- and sex-matched, randomly chosen citizens in the Danish Civil Registration System Statistics. We calculated the annual direct and indirect health costs, including labor supply and social transfer payments (which include income derived from state coffers, such as subsistence allowances, pensions, social security, social assistance, public personal support for education, etc.). Direct costs included frequencies and costs of hospitalizations and weighted outpatient use, according to diagnosis-related groups, and specific outpatient costs based on data from The Danish Ministry of Health. The use of and costs of drugs were based on data from the Danish Medicines Agency. The frequencies and costs from primary sectors were based on data from The National Health Security. Indirect costs were based on income data derived from data from the Coherent Social Statistics. Results: Patients with narcolepsy had significantly higher rates of health-related contact and medication use and higher expenses, as compared with control subjects. They also had higher unemployment rates. The income level of patients with narcolepsy who were employed was lower than that of employed control subjects. The annual total direct and indirect costs were €11,654 (€ = Eurodollars

  4. Diagnosis, Phenomenology, Differential Diagnosis, and Comorbidity of Pediatric Bipolar Disorder.

    PubMed

    Kowatch, Robert A

    2016-01-01

    Diagnosing a pediatric patient with bipolar disorder can pose a challenge for clinicians. Children typically do not present with the full criteria for a mood episode and may have symptoms of other disorders such as attention-deficit/hyperactivity disorder, oppositional defiant disorder, anxiety disorders, and other mood disorders, which may complicate the diagnostic process. By diligently interviewing parents and children about behaviors, thoroughly reviewing family histories, and systematically ruling out other disorders, clinicians can provide an accurate diagnosis for their pediatric patients. PMID:27570927

  5. Narcolepsy in African Americans

    PubMed Central

    Kawai, Makoto; O'Hara, Ruth; Einen, Mali; Lin, Ling; Mignot, Emmanuel

    2015-01-01

    Study Objectives: Although narcolepsy affects 0.02–0.05% of individuals in various ethnic groups, clinical presentation in different ethnicities has never been fully characterized. Our goal was to study phenotypic expression across ethnicities in the United States. Design/Setting: Cases of narcolepsy from 1992 to 2013 were identified from searches of the Stanford Center for Narcolepsy Research database. International Classification of Sleep Disorders, Third Edition diagnosis criteria for type 1 and type 2 narcolepsy were used for inclusion, but subjects were separated as with and without cataplexy for the purpose of data presentation. Information extracted included demographics, ethnicity and clinical data, HLA-DQB1*06:02, polysomnography (PSG), multiple sleep latency test (MSLT) data, and cerebrospinal fluid (CSF) hypocretin-1 level. Patients: 182 African-Americans, 839 Caucasians, 35 Asians, and 41 Latinos with narcolepsy. Results: Sex ratio, PSG, and MSLT findings did not differ across ethnicities. Epworth Sleepiness Scale (ESS) score was higher and age of onset of sleepiness earlier in African Americans compared with other ethnicities. HLA-DQB1*06:02 positivity was higher in African Americans (91.0%) versus others (76.6% in Caucasians, 80.0% in Asians, and 65.0% in Latinos). CSF hypocretin-1 level, obtained in 222 patients, was more frequently low (≤ 110 pg/ml) in African Americans (93.9%) versus Caucasians (61.5%), Asians (85.7%) and Latinos (75.0%). In subjects with low CSF hypocretin-1, African Americans (28.3%) were 4.5 fold more likely to be without cataplexy when compared with Caucasians (8.1%). Conclusions: Narcolepsy in African Americans is characterized by earlier symptom onset, higher Epworth Sleepiness Scale score, higher HLA-DQB1*06:02 positivity, and low cerebrospinal fluid hypocretin-1 level in the absence of cataplexy. In African Americans, more subjects without cataplexy have type 1 narcolepsy. Citation: Kawai M, O'Hara R, Einen M, Lin L

  6. Narcolepsy: a clinical review.

    PubMed

    Leschziner, Guy

    2014-10-01

    Despite the classic tetrad of clinical features that typify it, narcolepsy remains much under-diagnosed, in part, because of the wide spectrum of clinical phenotypes, but also because of its insidious onset, usually in a young person. The median time to diagnosis from first symptoms remains very long, around 10 years in the UK. Conversely, in the specialist setting, it is likely over-diagnosed, largely because of failure to exclude other causes of hypersomnia. There is an over-reliance on a biological marker of the condition, the multiple sleep latency test (MSLT), which, like many tests, has a significant false-positive and false-negative rate. This review aims to discuss some of the difficulties in achieving a diagnosis, interpretation of investigations, differential diagnosis, and appropriate management of patients with narcolepsy. PMID:24830461

  7. Narcolepsy in adolescents.

    PubMed

    Sullivan, Shannon S

    2010-12-01

    Narcolepsy is a disorder of children and adolescence, but until recently it was often not identified until adulthood, with a reported time from onset to diagnosis of about a decade. This disorder affects approximately 0.05% of the population and starts in childhood and adolescence about half of the time. With narcolepsy, the boundaries between wake, sleep, and dreams are blurred. The cardinal features of narcolepsy-cataplexy are daytime somnolence, cataplexy (sometimes occurring long after onset of sleepiness), sleep paralysis, and hypnagogic hallucinations. Weight gain, disturbed nocturnal sleep, and social/school functional changes are common; reactive substance use to maintain wakefulness during the day may also be seen. Males and females are equally affected. It is classically associated with HLA DQB1*0602, the most specific genetic marker for narcolepsy across all ethnic groups. CSF hypocretin has recently been found to be depleted in this disorder, and late-breaking data support that the disease is caused by autoimmune destruction of hypocretin-producing neurons in the hypothalamus. There is no known cure for narcolepsy. Therapies include behavioral/ scheduling modification, medications to combat daytime sleepiness and cataplexy, and treatment of concomitant disorders leading to daytime sleepiness. The differential diagnosis for this disorder should include other disorders of excessive daytime sleepiness with a proclivity toward onset in adolescence, such as delayed sleep phase syndrome, obstructive sleep apnea, and insufficient sleep time; substance use; and less commonly neurologic disorders such as Klein Levin syndrome, Prader-Willi syndrome, and others. Immunomodulator therapy and hypocretin replacement are proposed therapies that hold promise for the future. PMID:21302860

  8. Incidence of Narcolepsy in Germany

    PubMed Central

    Oberle, Doris; Drechsel-Bäuerle, Ursula; Schmidtmann, Irene; Mayer, Geert; Keller-Stanislawski, Brigitte

    2015-01-01

    Study Objectives: Following the 2009 pandemic, reports of an association between an AS03 adjuvanted H1N1 pandemic influenza vaccine and narcolepsy were published. Besides determining background incidence rates for narcolepsy in Germany this study aimed at investigating whether there was a change in incidence rates of narcolepsy between the pre-pandemic, pandemic, and the post-pandemic period on the population level. Design: Retrospective epidemiological study on the incidence of narcolepsy with additional capture-recapture analysis. Setting: German sleep centers. Patients or Participants: Eligible were patients with an initial diagnosis of narcolepsy (ICD10 Code G47.4) within the period from January 1, 2007 to December 31, 2011. Interventions: None; observational study. Measurements and Results: A total of 342 sleep centers were invited to participate in the study. Adequate and suitable data were provided by 233 sleep centers (68.1%). A total of 1,198 patients with an initial diagnosis of narcolepsy within the observed period were included, of whom 106 (8.8%) were children and adolescents under the age of 18 years and 1,092 (91.2%) were adults. In children and adolescents, the age-standardized adjusted incidence rate significantly increased from 0.14/100,000 person-years in the pre-pandemic period to 0.50/100,000 person-years in the post-pandemic period (incidence density ratio, IDR 3.57; 95% CI 1.94–7.00). In adults, no significant change was detectable. This increase started in spring 2009. Conclusions: For the years 2007–2011, valid estimates for the incidence of narcolepsy in Germany were provided. In individuals under 18, the incidence rates continuously increased from spring 2009. Citation: Oberle D, Drechsel-Bäuerle U, Schmidtmann I, Mayer G, Keller-Stanislawski B. Incidence of narcolepsy in Germany. SLEEP 2015;38(10):1619–1628. PMID:25902804

  9. Challenges in Diagnosing Narcolepsy without Cataplexy: A Consensus Statement

    PubMed Central

    Baumann, Christian R.; Mignot, Emmanuel; Lammers, Gert Jan; Overeem, Sebastiaan; Arnulf, Isabelle; Rye, David; Dauvilliers, Yves; Honda, Makoto; Owens, Judith A.; Plazzi, Giuseppe; Scammell, Thomas E.

    2014-01-01

    Background: Diagnosing narcolepsy without cataplexy is often a challenge as the symptoms are nonspecific, current diagnostic tests are limited, and there are no useful biomarkers. In this report, we review the clinical and physiological aspects of narcolepsy without cataplexy, the limitations of available diagnostic procedures, and the differential diagnoses, and we propose an approach for more accurate diagnosis of narcolepsy without cataplexy. Methods: A group of clinician-scientists experienced in narcolepsy reviewed the literature and convened to discuss current diagnostic tools, and to map out directions for research that should lead to a better understanding and more accurate diagnosis of narcolepsy without cataplexy. Recommendations: To aid in the identification of narcolepsy without cataplexy, we review key indicators of narcolepsy and present a diagnostic algorithm. A detailed clinical history is mainly helpful to rule out other possible causes of chronic sleepiness. The multiple sleep latency test remains the most important measure, and prior sleep deprivation, shift work, or circadian disorders should be excluded by actigraphy or sleep logs. A short REM sleep latency (≤ 15 minutes) on polysomnography can aid in the diagnosis of narcolepsy without cataplexy, although sensitivity is low. Finally, measurement of hypocretin levels can helpful, as levels are low to intermediate in 10% to 30% of narcolepsy without cataplexy patients. Citation: Baumann CR, Mignot E, Lammers GJ, Overeem S, Arnulf I, Rye D, Dauvilliers Y, Honda M, Owens JA, Plazzi G, Scammell TE. Challenges in diagnosing narcolepsy without cataplexy: a consensus statement. SLEEP 2014;37(6):1035-1042. PMID:24882898

  10. [Narcolepsy disclosing neurosarcoidosis].

    PubMed

    Servan, J; Marchand, F; Garma, L; Seilhean, D; Hauw, J J; Delattre, J Y

    1995-04-01

    A 37-year-old man developed excessive daytime sleepiness, sleep attacks and cataplexy revealing an hypothalamic tumour. Multiple Sleep Latency Tests (MSLT) were characteristics of narcolepsy. Tissue typing was positive for HLA DR2 and DQ1. Most cases of narcolepsy are idiopathic without any evidence of brain pathology. Although symptomatic narcolepsy may occur occasionally with diencephalic lesions. The relationship between narcolepsy with diencephalic lesions is unsettled and will be discussed. PMID:7481382

  11. Advances in Multidetector CT Diagnosis of Pediatric Pulmonary Thromboembolism

    PubMed Central

    Thacker, Paul G.

    2016-01-01

    Although pediatric pulmonary thromboembolism is historically believed to be rare with relatively little information available in the medical literature regarding its imaging evaluation, it is more common than previously thought. Thus, it is imperative for radiologists to be aware of the most recent advances in its imaging information, particularly multidetector computed tomography (MDCT), the imaging modality of choice in the pediatric population. The overarching goal of this article is to review the most recent updates on MDCT diagnosis of pediatric pulmonary thromboembolism. PMID:26957904

  12. The acute pediatric scrotum: presentation, differential diagnosis and management.

    PubMed

    Vasdev, Nikhil; Chadwick, David; Thomas, David

    2012-09-01

    Both pediatric and adult urologists frequently evaluate pediatric patients with an acute scrotum. We present a detailed review on the acute pediatric scrotum highlighting the clinical presentation, differential diagnosis and management of this common clinical condition. It is important to highlight that a testicular torsion is the most important differential diagnosis and the main priority in each case is to diagnosis and treat a potential testicular torsion is of the essence. The aim of our extensive review is to update/review the appropriate evaluation and management of the acute scrotum and to guide the clinician in distinguishing testicular torsion from the other conditions that commonly mimic this surgical emergency. This review is useful for trainees in UK and Europe who plan to take the FRCS (Urol) examination. PMID:24917714

  13. Sleep in the Pediatric Population.

    PubMed

    Hintze, Jonathan P; Paruthi, Shalini

    2016-03-01

    This article provides an overview of common pediatric sleep disorders encountered in the neurology clinic, including restless legs syndrome, narcolepsy, parasomnias, sleep-related epilepsy, and sleep and headaches. An overview of each is provided, with an emphasis on accurate diagnosis and treatment. It is important in comprehensive neurologic care to also obtain a sleep history, because treating the underlying sleep condition may improve the neurologic disorder. PMID:26972036

  14. Altered Brain Microstate Dynamics in Adolescents with Narcolepsy.

    PubMed

    Drissi, Natasha M; Szakács, Attila; Witt, Suzanne T; Wretman, Anna; Ulander, Martin; Ståhlbrandt, Henriettae; Darin, Niklas; Hallböök, Tove; Landtblom, Anne-Marie; Engström, Maria

    2016-01-01

    Narcolepsy is a chronic sleep disorder caused by a loss of hypocretin-1 producing neurons in the hypothalamus. Previous neuroimaging studies have investigated brain function in narcolepsy during rest using positron emission tomography (PET) and single photon emission computed tomography (SPECT). In addition to hypothalamic and thalamic dysfunction they showed aberrant prefrontal perfusion and glucose metabolism in narcolepsy. Given these findings in brain structure and metabolism in narcolepsy, we anticipated that changes in functional magnetic resonance imaging (fMRI) resting state network (RSN) dynamics might also be apparent in patients with narcolepsy. The objective of this study was to investigate and describe brain microstate activity in adolescents with narcolepsy and correlate these to RSNs using simultaneous fMRI and electroencephalography (EEG). Sixteen adolescents (ages 13-20) with a confirmed diagnosis of narcolepsy were recruited and compared to age-matched healthy controls. Simultaneous EEG and fMRI data were collected during 10 min of wakeful rest. EEG data were analyzed for microstates, which are discrete epochs of stable global brain states obtained from topographical EEG analysis. Functional MRI data were analyzed for RSNs. Data showed that narcolepsy patients were less likely than controls to spend time in a microstate which we found to be related to the default mode network and may suggest a disruption of this network that is disease specific. We concluded that adolescents with narcolepsy have altered resting state brain dynamics. PMID:27536225

  15. Altered Brain Microstate Dynamics in Adolescents with Narcolepsy

    PubMed Central

    Drissi, Natasha M.; Szakács, Attila; Witt, Suzanne T.; Wretman, Anna; Ulander, Martin; Ståhlbrandt, Henriettae; Darin, Niklas; Hallböök, Tove; Landtblom, Anne-Marie; Engström, Maria

    2016-01-01

    Narcolepsy is a chronic sleep disorder caused by a loss of hypocretin-1 producing neurons in the hypothalamus. Previous neuroimaging studies have investigated brain function in narcolepsy during rest using positron emission tomography (PET) and single photon emission computed tomography (SPECT). In addition to hypothalamic and thalamic dysfunction they showed aberrant prefrontal perfusion and glucose metabolism in narcolepsy. Given these findings in brain structure and metabolism in narcolepsy, we anticipated that changes in functional magnetic resonance imaging (fMRI) resting state network (RSN) dynamics might also be apparent in patients with narcolepsy. The objective of this study was to investigate and describe brain microstate activity in adolescents with narcolepsy and correlate these to RSNs using simultaneous fMRI and electroencephalography (EEG). Sixteen adolescents (ages 13–20) with a confirmed diagnosis of narcolepsy were recruited and compared to age-matched healthy controls. Simultaneous EEG and fMRI data were collected during 10 min of wakeful rest. EEG data were analyzed for microstates, which are discrete epochs of stable global brain states obtained from topographical EEG analysis. Functional MRI data were analyzed for RSNs. Data showed that narcolepsy patients were less likely than controls to spend time in a microstate which we found to be related to the default mode network and may suggest a disruption of this network that is disease specific. We concluded that adolescents with narcolepsy have altered resting state brain dynamics. PMID:27536225

  16. [Bronchiectasis in pediatrics, diagnosis approach and management].

    PubMed

    Alvarez Caro, Francisco; Gómez Farpón, Angela; Ruiz del Árbol Sánchez, Paloma; de Miguel Mallén, Ma Ángeles; Alvarez Berciano, Francisco

    2012-01-01

    Bronchiectasis is still an important health problem in both, developed and developing countries. Cystic fibrosis is one of the most important causes, but a great variety of other causes makes non cystic fibrosis bronchiectasis a relatively frequent diagnosis. Early diagnosis based on medical history and radiological confirmation is only the starting point to determine the specific etiology, in order to establish a treatment focused on the underlying cause. For this purpose, an orderly and systematic diagnostic evaluation is required. A review article about bronchiectasis, particularly those not related to cystic fibrosis, is presented. PMID:22307423

  17. Animal Models of Narcolepsy

    PubMed Central

    Chen, Lichao; Brown, Ritchie E.; McKenna, James T.; McCarley, Robert W.

    2013-01-01

    Narcolepsy is a debilitating sleep disorder with excessive daytime sleepiness and cataplexy as its two major symptoms. Although this disease was first described about one century ago, an animal model was not available until the 1970s. With the establishment of the Stanford canine narcolepsy colony, researchers were able to conduct multiple neurochemical studies to explore the pathophysiology of this disease. It was concluded that there was an imbalance between monoaminergic and cholinergic systems in canine narcolepsy. In 1999, two independent studies revealed that orexin neurotransmission deficiency was pivotal to the development of narcolepsy with cataplexy. This scientific leap fueled the generation of several genetically engineered mouse and rat models of narcolepsy. To facilitate further research, it is imperative that researchers reach a consensus concerning the evaluation of narcoleptic behavioral and EEG phenomenology in these models. PMID:19689311

  18. Narcolepsy with cataplexy and comorbid immunopathological diseases.

    PubMed

    Martínez-Orozco, Francisco J; Vicario, José L; Villalibre-Valderrey, Isabel; De Andrés, Clara; Fernández-Arquero, Miguel; Peraita-Adrados, Rosa

    2014-08-01

    Evidence suggests that autoimmune diseases tend to co-occur so that patients with an autoimmune disorder are at higher risk of a second autoimmune disease. The association between allergic and autoimmune diseases is also of considerable interest. There are no reports on the association between sporadic or familial narcolepsy with cataplexy and other non-neurological immune-mediated diseases. This study reported on the comorbid immunopathological diseases associated with narcolepsy. One-hundred and fifty six narcoleptic patients with a mean age at diagnosis of 39.1 ± 17.8 years (range, 6-70 years) were assessed using the clinical history, physical and neurological examinations, sleep questionnaires, neuroimaging and human leucocyte antigen typing. Diagnosis was confirmed by polysomnography followed by a multiple sleep latency test or by measuring hypocretin-1 levels. Patients with immunopathological diseases were matched for gender and age at the onset of narcoleptic symptoms with narcoleptic patients without immunopathological diseases. Twenty-six patients (16.6%; 50% women; one familial, 25 sporadic) had one or more immunopathological diseases associated: autoimmune diseases, such as idiopathic thrombocytopenic purpura, multiple sclerosis, systemic lupus erythematosus, psoriasis, Crohn's disease, ulcerative colitis, autoimmune thyroid disease, Peyronie's disease and idiopathic recurrent facial palsy; other immunopathological diseases, like atopic dermatitis, allergic asthma and allergic rhinitis. Although not significant, the age at diagnosis of narcolepsy was 9.3 years earlier in patients with narcolepsy + immunopathological diseases. The results demonstrate that the prevalence of comorbid immunopathological diseases is high in narcolepsy, and cataplexy is significantly more severe in patients with narcolepsy + immunopathological diseases. PMID:24645699

  19. Pediatric granulomatous cerebral amebiasis: a delayed diagnosis.

    PubMed

    Galarza, Marcelo; Cuccia, Vicente; Sosa, Fidel P; Monges, Jorge A

    2002-02-01

    We present four cases of cerebral amebae infection treated at our neurosurgical department. Patient 1 was a 12-year-old male with skin lesions of 2 years' progression involving the midface. He received a corticosteroid course, and, after that, he presented a right body hemiparesis. Patient 2 was a 5-year-old male, with a past surgical history of fibula fracture and osteomyelitis of 1-year evolution, associated with lesions of the surrounding skin that presented with partial seizures. Patient 3 was a 3-year-old female who presented with a stroke-like episode and with partial seizures. Patient 4 was a 6-year-old male who had ulcerative lesions in the face of 1-year evolution. After a corticosteroid course, he presented with right-body hemiparesis. All patients were human immunodeficiency virus-negative and died 1 month or less after surgery because of progressive evolution of the disease. Histopathology revealed granulomatous amebic encephalitis. All patients revealed infection from Balamuthia mandrillaris (Leptomyxiidae). Treatment consisting of pentamidine, clarithromycin, fluconazole, and 5-fluorocytosine was ineffective. Although extremely uncommon, granulomatous amebic encephalitis should be considered in the differential diagnosis of cerebral lesions while nonspecific, associated granulomatous skin lesions support the diagnosis of amebiasis. PMID:11897483

  20. Narcolepsy: immunological aspects

    PubMed Central

    Overeem, Sebastiaan; Black, John Logan; Lammers, Gert Jan

    2008-01-01

    Narcolepsy with cataplexy is a debilitating sleep disorder with an estimated prevalence of about 0.05%. Narcolepsy is caused by a selective loss of hypocretin (orexin) producing neurons in the perifornical hypothalamus. Based on the very strong association with the HLA subtype DQB1*0602, it is currently hypothesized narcolepsy is caused by an autoimmune mediated process directed at the hypocretin neurons. So far however, studies focussing on general markers of (auto)immune activation, as well as humoral immunity against the hypocretin system have not yielded consistent results supporting this hypothesis. PMID:18291691

  1. Narcolepsy: Fact Sheet

    MedlinePlus

    ... in the sleep cycle. It records heart and respiratory rates, electrical activity in the brain using electroencephalography, and ... than narcolepsy. The MSLT also measures heart and respiratory rates, records nerve activity in muscles, and pinpoints the ...

  2. Allergies and Disease Severity in Childhood Narcolepsy: Preliminary Findings

    PubMed Central

    Aydinoz, Secil; Huang, Yu-Shu; Gozal, David; Inocente, Clara O.; Franco, Patricia; Kheirandish-Gozal, Leila

    2015-01-01

    Introduction: Narcolepsy frequently begins in childhood, and is characterized by excessive daytime sleepiness, with the presence of cataplexy reflecting a more severe phenotype. Narcolepsy may result from genetic predisposition involving deregulation of immune pathways, particularly involving T helper 2 cells (Th2). Increased activation of Th2 cells is usually manifested as allergic conditions such as rhinitis, atopic dermatitis, and asthma. We hypothesized that the presence of allergic conditions indicative of increased Th2 balance may dampen the severity of the phenotype in children with narcolepsy. Methods: A retrospective chart review of childhood narcolepsy patients was conducted at three major pediatric sleep centers. Patients were divided into those with narcolepsy without cataplexy (NC−) and narcolepsy with cataplexy (NC+). Demographics, polysomnographic and multiple sleep latency test data, and extraction of information on the presence of allergic diseases such allergic rhinitis, atopic dermatitis, and asthma was performed. Results: There were 468 children identified, with 193 children in NC− group and 275 patients in the NC+ group. Overall, NC+ children were significantly younger, had higher body mass index, and had shorter mean sleep latencies and increased sleep onset rapid eye movement events. The frequency of allergic conditions, particularly asthma and allergic rhinitis, was markedly lower in NC+ (58/275) compared to NC− patients (94/193; P < 0.0001). Conclusion: Involvement of the immune system plays an important role in the pathophysiology of narcolepsy. Current findings further suggest that an increased shift toward T helper 2 cells, as indicated by the presence of allergic conditions, may modulate the severity of the phenotype in childhood narcolepsy, and reduce the prevalence of cataplexy in these patients. Citation: Aydinoz S, Huang YS, Gozal D, Inocente CO, Franco P, Kheirandish-Gozal L. Allergies and disease severity in childhood

  3. Observer agreement in pediatric semi-quantitative vertebral fracture diagnosis

    PubMed Central

    Siminoski, Kerry; Lentle, Brian; Matzinger, Mary-Ann; Shenouda, Nazih; Ward, Leanne M.

    2013-01-01

    Background The Genant semi-quantitative (GSQ) method has been a standard procedure for diagnosis of vertebral fractures in adults, but has only recently been shown to be of clinical utility in pediatrics. Observer agreement using the GSQ method in this age group has not been described. Objective To evaluate observer agreement on vertebral readability and vertebral fracture diagnosis using the GSQ method in pediatric vertebral morphometry. Materials and methods Spine radiographs of 186 children with acute lymphoblastic leukemia were evaluated independently by three radiologists using the same GSQ methodology as in adults. A subset of 100 radiographs was evaluated on two occasions. Results An average of 4.7% of vertebrae were unreadable for the three radiologists. Intraobserver Cohen’s kappa (κ) on readability ranged from 0.434 to 0.648 at the vertebral level and from 0.416 to 0.611 at the patient level, while interobserver κ for readability had a range of 0.330 to 0.504 at the vertebral level and 0.295 to 0.467 at the patient level. Intraobserver κ for the presence of vertebral fracture had a range of 0.529 to 0.726 at the vertebral level and was 0.528 to 0.767 at the patient level. Interobserver κ for fracture at the vertebral level ranged from 0.455 to 0.548 and from 0.433 to 0.486 at the patient level. Conclusion Most κ values for both intra- and interobserver agreement in applying the GSQ method to pediatric spine radiographs were in the moderate to substantial range, comparable to the performance of the technique in adult studies. The GSQ method should be considered for use in pediatric research and clinical practice. PMID:24323185

  4. Treatment Options for Narcolepsy.

    PubMed

    Barateau, Lucie; Lopez, Régis; Dauvilliers, Yves

    2016-05-01

    Narcolepsy type 1 and narcolepsy type 2 are central disorders of hypersomnolence. Narcolepsy type 1 is characterized by excessive daytime sleepiness and cataplexy and is associated with hypocretin-1 deficiency. On the other hand, in narcolepsy type 2, cerebrospinal fluid hypocretin-1 levels are normal and cataplexy absent. Despite major advances in our understanding of narcolepsy mechanisms, its current management is only symptomatic. Treatment options may vary from a single drug that targets several symptoms, or multiple medications that each treats a specific symptom. In recent years, narcolepsy treatment has changed with the widespread use of modafinil/armodafinil for daytime sleepiness, antidepressants (selective serotonin and dual serotonin and noradrenalin reuptake inhibitors) for cataplexy, and sodium oxybate for both symptoms. Other psychostimulants can also be used, such as methylphenidate, pitolisant and rarely amphetamines, as third-line therapy. Importantly, clinically relevant subjective and objective measures of daytime sleepiness are required to monitor the treatment efficacy and to provide guidance on whether the treatment goals are met. Associated symptoms and comorbid conditions, such as hypnagogic/hypnopompic hallucinations, sleep paralysis, disturbed nighttime sleep, unpleasant dreams, REM- and non REM-related parasomnias, depressive symptoms, overweight/obesity, and obstructive sleep apnea, should also be taken into account and managed, if required. In the near future, the efficacy of new wake-promoting drugs, anticataplectic agents, hypocretin replacement therapy and immunotherapy at the early stages of the disease should also be evaluated. PMID:27155860

  5. Lucid Dreaming in Narcolepsy

    PubMed Central

    Dodet, Pauline; Chavez, Mario; Leu-Semenescu, Smaranda; Golmard, Jean-Louis; Arnulf, Isabelle

    2015-01-01

    Objective: To evaluate the frequency, determinants and sleep characteristics of lucid dreaming in narcolepsy Settings: University hospital sleep disorder unit Design: Case-control study Participants: Consecutive patients with narcolepsy and healthy controls Methods: Participants were interviewed regarding the frequency and determinants of lucid dreaming. Twelve narcolepsy patients and 5 controls who self-identified as frequent lucid dreamers underwent nighttime and daytime sleep monitoring after being given instructions regarding how to give an eye signal when lucid. Results: Compared to 53 healthy controls, the 53 narcolepsy patients reported more frequent dream recall, nightmares and recurrent dreams. Lucid dreaming was achieved by 77.4% of narcoleptic patients and 49.1% of controls (P < 0.05), with an average of 7.6 ± 11 vs. 0.3 ± 0.8 lucid dreams/month (P < 0.0001). The frequency of cataplexy, hallucinations, sleep paralysis, dyssomnia, HLA positivity, and the severity of sleepiness were similar in narcolepsy with and without lucid dreaming. Seven of 12 narcoleptic (and 0 non-narcoleptic) lucid dreamers achieved lucid REM sleep across a total of 33 naps, including 14 episodes with eye signal. The delta power in the electrode average, in delta, theta, and alpha powers in C4, and coherences between frontal electrodes were lower in lucid than non-lucid REM sleep in spectral EEG analysis. The duration of REM sleep was longer, the REM sleep onset latency tended to be shorter, and the percentage of atonia tended to be higher in lucid vs. non-lucid REM sleep; the arousal index and REM density and amplitude were unchanged. Conclusion: Narcoleptics have a high propensity for lucid dreaming without differing in REM sleep characteristics from people without narcolepsy. This suggests narcolepsy patients may provide useful information in future studies on the nature of lucid dreaming. Citation: Dodet P, Chavez M, Leu-Semenescu S, Golmard JL, Arnulf I. Lucid dreaming in

  6. Moebius syndrome and narcolepsy: A case dissertation☆

    PubMed Central

    Sabaneeff, Lídia; Mendes Motta, Henrique; Castro, Juliana; Tufik, Sergio; Santos Coelho, Fernando Morgadinho

    2014-01-01

    Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy. PMID:26483899

  7. Moebius syndrome and narcolepsy: A case dissertation.

    PubMed

    Sabaneeff, Lídia; Mendes Motta, Henrique; Castro, Juliana; Tufik, Sergio; Santos Coelho, Fernando Morgadinho

    2014-03-01

    Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy. PMID:26483899

  8. [Narcolepsy in sleepy obese children. Two case reports].

    PubMed

    Rives-Lange, C; Karsenty, A; Chantereau, H; Oderda, L; Dubern, B; Lecendreux, M; Tounian, P

    2016-06-01

    Narcolepsy is a disabling disorder, characterized by excessive daytime sleepiness, irresistible sleep attacks, and partial or complete cataplexy. Many cases of obesity and precocious puberty have been reported in narcoleptic children, suggesting that the deficiency of hypocretin in narcolepsy could also be implicated in appetite stimulation. We report the observations of two young girls, who were referred for obesity and who developed narcolepsy accompanied by an abrupt weight gain. In both cases, specific drugs promoted wakefulness and overweight stabilization. Narcolepsy has to be suspected in sleepy obese children and not misdiagnosed as obstructive apnea. A nocturnal polysomnography with multiple sleep latency tests should be performed to confirm the diagnosis and begin specific treatment that is effective for sleep disorders and weight gain. PMID:27133373

  9. Complex Diagnostic and Treatment Issues in Psychotic Symptoms Associated with Narcolepsy

    PubMed Central

    Ivanenko, Anna

    2009-01-01

    Narcolepsy is an uncommon chronic, neurological disorder characterized by abnormal manifestations of rapid eye movement sleep and perturbations in the sleep-wake cycle. Accurate diagnosis of psychotic symptoms in a person with narcolepsy could be difficult due to side effects of stimulant treatment (e.g., hallucinations) as well as primary symptoms of narcolepsy (e.g., sleep paralysis and hypnagogic and/or hypnapompic hallucinations). Pertinent articles from peer-reviewed journals were identified to help understand the complex phenomenology of psychotic symptoms in patients with narcolepsy. In this ensuing review and discussion, we present an overview of narcolepsy and outline diagnostic and management approaches for psychotic symptoms in patients with narcolepsy. PMID:19724760

  10. Delusional Confusion of Dreaming and Reality in Narcolepsy

    PubMed Central

    Wamsley, Erin; Donjacour, Claire E.H.M.; Scammell, Thomas E.; Lammers, Gert Jan; Stickgold, Robert

    2014-01-01

    Study Objectives: We investigated a generally unappreciated feature of the sleep disorder narcolepsy, in which patients mistake the memory of a dream for a real experience and form sustained delusions about significant events. Design: We interviewed patients with narcolepsy and healthy controls to establish the prevalence of this complaint and identify its predictors. Setting: Academic medical centers in Boston, Massachusetts and Leiden, The Netherlands. Participants: Patients (n = 46) with a diagnosis of narcolepsy with cataplexy, and age-matched healthy healthy controls (n = 41). Interventions: N/A. Measurements and Results: “Dream delusions” were surprisingly common in narcolepsy and were often striking in their severity. As opposed to fleeting hypnagogic and hypnopompic hallucinations of the sleep/wake transition, dream delusions were false memories induced by the experience of a vivid dream, which led to false beliefs that could persist for days or weeks. Conclusions: The delusional confusion of dreamed events with reality is a prominent feature of narcolepsy, and suggests the possibility of source memory deficits in this disorder that have not yet been fully characterized. Citation: Wamsley E; Donjacour CE; Scammell TE; Lammers GJ; Stickgold R. Delusional confusion of dreaming and reality in narcolepsy. SLEEP 2014;37(2):419-422. PMID:24501437

  11. Dante's description of narcolepsy.

    PubMed

    Plazzi, Giuseppe

    2013-11-01

    Sleep, sleepiness, and dreaming are expressed throughout Dante Alighieri's (1265-1321) the Divine Comedy from the start of his journey through the afterlife. In the book, Dante complains that he is "full of sleep," and he experiences sudden wake-dreaming transitions, short and refreshing naps, visions and hallucinations, unconscious behaviors, episodes of muscle weakness, and falls which are always triggered by strong emotions. Taken together these signs are highly reminiscent of narcolepsy, a term coined in 1880 by Gélineau to define a disease consisting of daytime irresistible sleep episodes with remarkable dream mentation, sleep paralysis, hallucinations, and cataplexy (falls triggered by strong emotions). Sleep, sleepiness, and episodes of sudden weakness triggered by emotions are Dante's literary fingerprints from his earliest works, pointing to a lifelong autobiographic trait. In the 19th century, Cesare Lombroso speculated that Dante had epilepsy, as he had suffered from frequent spells and hallucinations. However, the multiple emotionally triggered falls Dante experienced in the Divine Comedy contrast with the epileptic seizure he depicted in one of the damned individuals. It is possible that Dante may have intuitively grasped the main features of narcolepsy, but it also is plausible that Dante's sleep, dreams, hallucinations, and falls are clues to a lifelong pathologic trait and that Dante may have known of or had narcolepsy. PMID:24021161

  12. Contribution of glomerular morphometry to the diagnosis of pediatric nephropathies.

    PubMed

    Marini, Mariana Barreto; Rocha, Laura Penna; Machado, Juliana Reis; Ramalho, Fernando Silva; Dos Reis, Marlene Antônia; Corrêa, Rosana Rosa Miranda

    2016-05-01

    Only a few studies describe histopathological changes in renal biopsies performed in pediatric patients. This study was conducted to identify an association between morphometric data in renal biopsies and renal function of these patients. Fifty-nine individuals with ages between 2 and 18 years old were selected, who were divided into six groups consisting of frequent nephropathies in children and adolescents and one control group. Proteinuria, urea, and creatinine values of the patients were recorded. Interactive image analysis software Leica QWin[®]was used for morpho- metric analysis of Bowman's capsule, glomerular capillary tuft, and Bowman's space area. The mean glomerular tuft area was higher in the membranous glomerulopathy group than in the podo- cytopathy group (57,101 ± 25,094 vs. 27,420 c ± 6279 µm(2); P <0.05). The median of Bowman's space area was higher in the control group than in the podocytopathy group and in the thin basement membrane/Alport syndrome group [12,210 (7676-26,945) vs. 5801 (3031-7852) µm(2); P <0.01 and 12210 (7676-26,945) vs. 4183 (3797-7992) µm(2); P <0.01, respectively]. There was a positive and significant correlation between Bowman's capsule area and the levels of proteinuria, creatinine, and urea of the patients, as well as between the glomerular tuft area and the levels of proteinuria, creatinine, and urea in the patients, regardless of their nephropathy. Glomerular morphometry may contribute to the diagnosis of some glomerulopathies and the association between glomerular morphometric parameters, and laboratory data may promote a better understanding of the prognosis of these patients. PMID:27215240

  13. Quality Measures for the Care of Patients with Narcolepsy

    PubMed Central

    Krahn, Lois E.; Hershner, Shelley; Loeding, Lauren D.; Maski, Kiran P.; Rifkin, Daniel I.; Selim, Bernardo; Watson, Nathaniel F.

    2015-01-01

    The American Academy of Sleep Medicine (AASM) commissioned a Workgroup to develop quality measures for the care of patients with narcolepsy. Following a comprehensive literature search, 306 publications were found addressing quality care or measures. Strength of association was graded between proposed process measures and desired outcomes. Following the AASM process for quality measure development, we identified three outcomes (including one outcome measure) and seven process measures. The first desired outcome was to reduce excessive daytime sleepiness by employing two process measures: quantifying sleepiness and initiating treatment. The second outcome was to improve the accuracy of diagnosis by employing the two process measures: completing both a comprehensive sleep history and an objective sleep assessment. The third outcome was to reduce adverse events through three steps: ensuring treatment follow-up, documenting medical comorbidities, and documenting safety measures counseling. All narcolepsy measures described in this report were developed by the Narcolepsy Quality Measures Work-group and approved by the AASM Quality Measures Task Force and the AASM Board of Directors. The AASM recommends the use of these measures as part of quality improvement programs that will enhance the ability to improve care for patients with narcolepsy. Citation: Krahn LE, Hershner S, Loeding LD, Maski KP, Rifkin DI, Selim B, Watson NF. Quality measures for the care of patients with narcolepsy. J Clin Sleep Med 2015;11(3):335–355. PMID:25700880

  14. Commentary: The Diagnosis of Delirium in Pediatric Patients

    ERIC Educational Resources Information Center

    Martini, D. Richard

    2005-01-01

    Pediatric patients seem to be especially vulnerable to toxic, metabolic, or traumatic CNS insults and are at greater risk of delirium with fever regardless of the etiology. Developmental limitations, in the areas of communication and cognition, prevent a thorough evaluation of the young patient for delirium. Only the most severe cases are…

  15. Pediatric imaging/doppler ultrasound of the chest: Extracardiac diagnosis

    SciTech Connect

    Huhta, J.C.

    1986-01-01

    In this book the author spells out new diagnostic applications in pediatrics for high resolution cross-sectional ultrasonography, and demonstrates the ways in which Doppler techniques complement the cross-sectional method. This reference presents practical, step-by-step methods for non-invasive ultrasound examination of extra-cardiac anatomy and assessment of vascular blood flow.

  16. [A case of narcolepsy in adolescent].

    PubMed

    Korabelnikova, E A; Strigin, K N

    2016-01-01

    A description of the clinical observation of the teenager with narcolepsy is presented. This case demonstrates specific clinical and polysomnographic characteristics of narcolepsy with cataplexy as well as a unique combination of paroxysmal forms of diseases affecting the state of sleep and wakefulness (narcolepsy, epilepsy and other phenomena related to sleep medicine). These forms include sleep-associated eating disorder and restless legs syndrome. The current approaches to treatment of narcolepsy are presented. PMID:27240185

  17. The Diagnosis, Evaluation and Treatment of Acute and Recurrent Pediatric Urinary Tract Infections

    PubMed Central

    Becknell, Brian; Schober, Megan; Korbel, Lindsey; Spencer, John David

    2015-01-01

    Urinary tract infection is one of the most common bacterial infections encountered by pediatricians. Currently, the diagnosis and management of acute urinary tract infection and recurrent urinary tract infection in children remains controversial. Recently published guidelines and large clinical trials have attempted to clarify UTI diagnostic and management strategies. In this manuscript, we review the diagnosis and management of acute and recurrent urinary tract infection in the pediatric population. PMID:25421102

  18. Depresssion in narcolepsy and hypersommia.

    PubMed

    Roth, B; Nevsimalova, S

    1975-01-01

    The authors studied the occurrence of depression in 100 randomly selected patients with narcolepsy and in 30 patients with hypersomnia. In the isolated form of idiopathic narcolepsy (without signs of cataplexy, sleep paralysis or hypnagogic hallucinations) depression occurred 28.6 per cent of cases. In idiopathic narcolepsy with cataplexy or other symptoms of sleep dissociation, depression was found in 17.2 per cent of cases. In idiopathic hypersomnia the occurrence of depression was 26.1 per cent. In the majority of cases the endogenous form of depression was observed. In the symptomatic form of narcolepsy and hypersomnia the occurence of depression has not been noted in any case. In most cases a parallel clincial course has been observed between the manifestation of depression and narcolepsy or hypersomnia. During a remission of the depressive state the hypersomniac symptoms decreased or disappeared totally. The authors furter discuss the possible pathophysiological mechanisms of the above mentioned symptoms. They are of the opinion that an important role is played by the secretion and metabolism of the cerebral monamines. PMID:168633

  19. Nocturnal Sleep Dynamics Identify Narcolepsy Type 1

    PubMed Central

    Pizza, Fabio; Vandi, Stefano; Iloti, Martina; Franceschini, Christian; Liguori, Rocco; Mignot, Emmanuel; Plazzi, Giuseppe

    2015-01-01

    Study Objectives: To evaluate the reliability of nocturnal sleep dynamics in the differential diagnosis of central disorders of hypersomnolence. Design: Cross-sectional. Setting: Sleep laboratory. Patients: One hundred seventy-five patients with hypocretin-deficient narcolepsy type 1 (NT1, n = 79), narcolepsy type 2 (NT2, n = 22), idiopathic hypersomnia (IH, n = 22), and “subjective” hypersomnolence (sHS, n = 52). Interventions: None. Methods: Polysomnographic (PSG) work-up included 48 h of continuous PSG recording. From nocturnal PSG conventional sleep macrostructure, occurrence of sleep onset rapid eye movement period (SOREMP), sleep stages distribution, and sleep stage transitions were calculated. Patient groups were compared, and receiver operating characteristic (ROC) curve analysis was used to test the diagnostic utility of nocturnal PSG data to identify NT1. Results: Sleep macrostructure was substantially stable in the 2 nights of each diagnostic group. NT1 and NT2 patients had lower latency to rapid eye movement (REM) sleep, and NT1 patients showed the highest number of awakenings, sleep stage transitions, and more time spent in N1 sleep, as well as most SOREMPs at daytime PSG and at multiple sleep latency test (MSLT) than all other groups. ROC curve analysis showed that nocturnal SOREMP (area under the curve of 0.724 ± 0.041, P < 0.0001), percent of total sleep time spent in N1 (0.896 ± 0.023, P < 0.0001), and the wakefulness-sleep transition index (0.796 ± 0.034, P < 0.0001) had a good sensitivity and specificity profile to identify NT1 sleep, especially when used in combination (0.903 ± 0.023, P < 0.0001), similarly to SOREMP number at continuous daytime PSG (0.899 ± 0.026, P < 0.0001) and at MSLT (0.956 ± 0.015, P < 0.0001). Conclusions: Sleep macrostructure (i.e. SOREMP, N1 timing) including stage transitions reliably identifies hypocretin-deficient narcolepsy type 1 among central disorders of hypersomnolence. Citation: Pizza F, Vandi S

  20. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.

    PubMed

    Stratakis, Constantine A

    2016-06-01

    Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin in the pituitary gland or elsewhere, tumors that produce corticotropin-releasing hormone anywhere, and adrenocortical masses that produce cortisol. Adrenocortical cancer is a rare cause of CS in children but should be excluded first. CS in children is often caused by germline or somatic mutations with implications for patient prognosis and for their families. CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup. PMID:27241967

  1. Neuropsychological findings in childhood narcolepsy.

    PubMed

    Posar, Annio; Pizza, Fabio; Parmeggiani, Antonia; Plazzi, Giuseppe

    2014-10-01

    Narcolepsy with cataplexy is a severely disabling disorder very often arising in childhood. Data on neuropsychological impairment in children are scant. We administered standardized neuropsychological tests to 13 children with narcolepsy with cataplexy. Overall, our patients displayed multiple patterns of cognitive and behavioral dysfunction, and often academic failure (7 cases out of 13). All children had a normal full intelligence quotient (IQ), but 3 patients presented a significantly higher and 2 a significantly lower Verbal IQ compared to Performance IQ, respectively. Mean sleep latency was significantly correlated (P < .05) to alertness functions. Eight patients displayed behavioral problems: emotional symptoms and conduct problems prevailed. Childhood narcolepsy with cataplexy represents a risk factor for subtle and heterogeneous cognitive impairments potentially resulting in academic failure, despite the normal IQ. These children also have a certain psychopathological risk. All this seems to be at least partially detached from the direct effects of daytime sleepiness. PMID:24293310

  2. Analysis of clinical value of CT in the diagnosis of pediatric pneumonia and mycoplasma pneumonia

    PubMed Central

    GONG, LIANG; ZHANG, CHONG-LIN; ZHEN, QING

    2016-01-01

    Pneumonia is an infectious disease of the lung causing mortality. Mycoplasma pneumonia (MP) is an atypical bacterial pneumonia that damages several organs. Lung computed tomography (CT) has been utilized in its identification. The aim of the present study was to examine the value of computed tomography diagnosis for pediatric MP. The present study prospectively analyzed the clinical and imaging data of 1,280 cases of pediatric MP in the out- and inpatient departments from March, 2010 to March, 2014; analyzed the morphology and distribution of the pneumonic lesion in the lungs; and summarized the value of CT diagnosis for pediatric MP. In the included children, there were 688 cases of lesions in the unilateral lobe, 592 cases of lesions in the bilateral lobes, 1,101 cases of extensive patchy opacity, 496 cases of mottled opacity, 432 cases of increased lung marking, 256 cases of streak opacity, 192 cases of ground-glass opacity, 992 cases of thickened bronchial wall in the lesions, 128 cases of lymphadenopathy in the hilar lymph nodes and mediastinal lymph nodes, and the lung CT showed 32 cases of pulmonary cavity and 144 cases of pleural effusion. In conclusion, the CT signals of pediatric MP had several types with some children exhibiting complicated changes. The child's clinical manifestation and symptoms should thus be considered in the diagnosis to improve the diagnostic rate. PMID:27073435

  3. Etiopathogenesis and neurobiology of narcolepsy: a review.

    PubMed

    Kumar, Swarup; Sagili, Haritha

    2014-02-01

    Narcolepsy is a chronic lifelong sleep disorder and it often leaves a debilitating effect on the quality of life of the sufferer. This disorder is characterized by a tetrad of excessive daytime sleepiness, cataplexy (brief loss of muscle tone following strong emotion), hypnogogic hallucinations and sleep paralysis. There are two distinct subgroups of Narcolepsy: Narcolepsy with cataplexy and Narcolepsy without cataplexy. For over 100 years, clinicians have recognised narcolepsy, but only in the last few decades have scientists been able to shed light on the true cause and pathogenesis of narcolepsy. Recent studies have shown that a loss of the hypothalamic neuropeptide Hypocretin/Orexincauses Narcolepsy with cataplexy and that an autoimmune mechanism may be responsible for this loss. Our understanding of the neurophysiologic aspect of narcolepsy has also significantly improved. The basic neural mechanisms behind sleepiness and cataplexy, the two defining symptoms of narcolepsy have started to become clearer. In this review, we have provided a detailed account of the key aspects of etiopathogenesis and neurobiology of narcolepsy, along with a critical appraisal of the more recent and interesting causal associations.We have also looked at the contributions of neuroimaging to the etiopathogenesis of Narcolepsy. PMID:24701532

  4. [Pediatric serial urinary cystoureterography. Needs, nursing diagnosis, and care protocol].

    PubMed

    Ramírez Lopera, María del Carmen; Esplá García, Leonardo

    2002-01-01

    The authors present the causes which lead to carrying out a Series of Urinal Tract Retrograde Cystography (CUMS) study in a child and they discuss some reasons which justify the elaboration of a nursing treatment protocol and the corresponding procedures in order to care for the child. To make a protocol for a procedure facilitates and enhances its execution. Nursing treatments, like any other activity, are susceptible to having a protocol and therefore can improve their quality. Nurses in the radio-diagnostic pediatrics ward at the University Hospital Reina Sofía in Cordoba are elaborating treatment protocols for every one of their radiological studies for the care of every child to whom we attend whom requires nursing care. In this article some protocols and procedures are commented on along with the reasons which justify their elaboration. PMID:13677766

  5. Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia | Office of Cancer Genomics

    Cancer.gov

    There is incomplete understanding of genetic heterogeneity and clonal evolution during cancer progression. Here we use deep whole-exome sequencing to describe the clonal architecture and evolution of 20 pediatric B-acute lymphoblastic leukaemias from diagnosis to relapse. We show that clonal diversity is comparable at diagnosis and relapse and clonal survival from diagnosis to relapse is not associated with mutation burden.

  6. PET/CT in the diagnosis of inflammatory bowel disease in pediatric patients: a review

    PubMed Central

    Malham, Mikkel; Hess, Søren; Nielsen, Rasmus G; Husby, Steffen; Høilund-Carlsen, Poul Flemming

    2014-01-01

    The literature on positron emission tomography and computed tomography using 18fluoro-deoxyglusose (FDG-PET/CT) in the diagnosis of pediatric inflammatory bowel disease (IBD) is presented. Only five papers representing independent studies were identified and included in this review. Of these, two studies dealt with both stand-alone FDG-PET and FDG-PET/CT, while three were about stand-alone FDG-PET only. No studies could be found that focused on FDG-PET/CT only. The five studies comprised analysis of a total 181 pediatric patients (0-18 years of age). They unanimously indicated that FDG-PET/CT is a versatile method with a diagnostic high sensitivity ranging from 70% to 97%. In conclusion, the pediatric literature on FGD-PET/CT’s role in the diagnosis of IBD is very limited. Prospective studies of well characterized populations are needed in order to validate this novel imaging modality in pediatric IBD. PMID:24795836

  7. The autoimmune basis of narcolepsy.

    PubMed

    Mahlios, Josh; De la Herrán-Arita, Alberto K; Mignot, Emmanuel

    2013-10-01

    Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness, cataplexy, hypnagonic hallucinations, sleep paralysis, and disturbed nocturnal sleep patterns. Narcolepsy is caused by the loss of hypocretin (orexin)-producing neurons in the lateral hypothalamus. Evidence, such as a strong association with HLA DQB1*06:02, strongly suggests an autoimmune basis targeting hypocretin neurons. Genome-wide association studies have strengthened the association between narcolepsy and immune system gene polymorphisms, including the identification of polymorphisms in the T cell receptor alpha locus, TNFSF4 (also called OX40L), Cathepsin H (CTSH) the purinergic receptor P2RY11, and the DNA methyltransferase DNMT1. Recently, attention has been raised regarding a spike in cases of childhood narcolepsy in 2010 following the 2009 H1N1 pandemic (pH1N1) in China and vaccination with Pandemrix, an adjuvanted H1N1 vaccine that was used in Europe. How the immune system may be involved in disease initiation and/or progression remains a challenge to researchers. Potential immunological pathways that could lead to the specific elimination of hypocretin producing neurons include molecular mimicry or bystander activation, and are likely a combination of genetic and environmental factors, such as upper airway infections. PMID:23725858

  8. [Differential diagnosis of pediatric hip pain in MR tomography].

    PubMed

    Glas, K; Obletter, N; Staudt, F; Scheuerer, K

    1991-01-01

    The efficiency of spin echo tomography in the differential diagnosis of hip joint pain in children in comparison with other imaging methods was tested in 115 spin echo tomography examinations of 68 patients. By means of the different modes available it was possible to determine joint effusion, necrosed areas and the formation of abscesses with great accuracy. In the case of Legg-Calve-Perthes disease the MRT is especially in the early diagnosis superior to the other Methods, already in the early stage a classification in the four Catterall groups was possible. Furthermore the "head at risk" signs, except the gage-sign, were better to describe by BRI than by conventional x-rays. The MRT allows an exacter staging and a better observation of the course of disease, especially the beginning of the revitalisation of the femora epiphysis in earlier and clearer visible than in other imaging methods. Further diseases like epiphysial dysplasie, specific and unspecific coxitis and slipped capital femora epiphysis were also investigated. We regard spin echo examination in the differential diagnosis of hip pain in children indicated by the following criteria: 1. with over six weeks uncertain differential diagnosis of coxitis fugax and Legg-Calve-Perthes disease 2. with Legg-Calve-Perthes disease in the early stage for therapy option 3. with TBC- and non-TBC-coxitis as a therapy attend and diagnostic measure. PMID:1829298

  9. How Much are Emergency Medicine Specialists’ Decisions Reliable in the Diagnosis and Treatment of Pediatric Fractures?

    PubMed Central

    Mardani-Kivi, Mohsen; Zohrevandi, Behzad; Saheb-Ekhtiari, Khashayar; Hashemi-Motlagh, Keyvan

    2016-01-01

    Background: Considering the importance of an early diagnosis and proper decision-making in regards to the treatment of pediatric distal radius and elbow fractures, this study examines emergency medicine specialists’ accuracy in the diagnosis and treatment of these patients. Methods: From 2012 and 2013, children less than 14 years old who were referred to an academic hospital emergency department with elbow or distal radius fractures were enrolled. Initially, patients were examined by an emergency medicine specialist and then they were referred to an orthopedic surgeon. Type of fracture and the proposed treatment of two specialists were compared. Results: In total, there were 108 patients (54 patients in each group) with a mean age of 8.1±3.3 years. Identical diagnosis in 48 cases (88.9%) of distal radius and 36 cases (66.7%) of elbow trauma were observed. We found a difference between diagnosis of the two specialists in diagnosing lateral condyle of the humerus fracture in the elbow group and growth plate fracture in the distal radius fracture group, but the differences were not significant. Among 108 patients, 70 patients (64.8%) received identical treatment. Conclusion: Although the emergency medicine specialists responded similarly to the orthopedic specialists in the diagnosis of pediatric distal radius and elbow fractures, diagnosis of more complicated fractures such as lateral condylar humoral fractures, distal radius growth plate and for choosing the proper treatment option, merits further education. PMID:26894221

  10. The clinical spectrum of narcolepsy with cataplexy: a reappraisal.

    PubMed

    Sturzenegger, Christian; Bassetti, Claudio L

    2004-12-01

    In the absence of a golden standard for the diagnosis of narcolepsy, the clinical spectrum of disorder remains controversial. The aims of this study were (1) to determine frequency and characteristics of sleep-wake symptoms in patients with narcolepsy with cataplexy, (2) to compare clinical characteristics with results of ancillary tests, and (3) to identify factors that discriminate narcolepsy from other conditions with excessive daytime sleepiness (EDS). We prospectively studied 57 narcoleptics with cataplexy, 56 patients with non-narcoleptic hypersomnia (H), and 40 normal controls (No). Based on suggested and published criteria, we differentiated between narcoleptics with definite cataplexy (N) and narcoleptics without definite cataplexy (possible cataplexy, NpC). Assessment consisted of questionnaires [all patients and controls, including the Ullanlinna Narcolepsy Score (UNS)], polysomnography (all patients), multiple sleep latency test (MSLT) and human leukocyte antigen typing (in most narcoleptics). A new narcolepsy score based on five questions was developed. Data were compared with those of 12 hypocretin-deficient narcoleptics (N-hd). There were significant differences between N and NpC (including mean sleep latency on MSLT), but none between N and N-hd. A score of sleep propensity during active situations (SPAS) and the frequency of sleep paralysis/hallucinations at sleep onset, dreams of flying, and history of sleep shouting discriminated N from H and No (P < 0.001). Cataplexy-like symptoms in H (18%) and No (8%) could be discriminated from 'true' cataplexy in N on the basis of topography of motor effects, triggering emotions and triggering situations (P < 0.001). Our narcolepsy score had a similar sensitivity (96% versus 98%) but a higher specificity (98% versus 56%) than the UNS. Analysis of co-occurring symptoms in narcolepsy revealed two symptom complexes: EDS, cataplexy, automatic behaviors; and sleep paralysis, hallucinations, parasomnias. Low

  11. Diagnosis and Treatment of Low Back Pain in the Pediatric Population

    PubMed Central

    Taxter, Alysha J.; Chauvin, Nancy A.; Weiss, Pamela F.

    2014-01-01

    Back pain in the pediatric population is a common complaint presenting to sports medicine clinic. There is a wide differential that should be considered, including mechanical, infectious, neoplastic, inflammatory, and amplified musculoskeletal pain. The history, pain quality, and examination are key components to help distinguish the etiologies of the pain and direct further evaluation. Laboratory investigations, including blood counts and inflammatory markers, can provide insight into the diagnosis. The HLA-B27 antigen can be helpful if a spondyloarthropathy is suspected. Imaging as clinically indicated typically begins with radiographs, and the use of MRI, CT, or bone scan can provide additional information. Proper diagnosis of back pain is important because prognosis and treatments are significantly different. This paper will review the pertinent evaluation, differential diagnoses, and treatment of low back pain in the pediatric population. PMID:24565826

  12. Altered Sleep Stage Transitions of REM Sleep: A Novel and Stable Biomarker of Narcolepsy

    PubMed Central

    Liu, Yaping; Zhang, Jihui; Lam, Venny; Ho, Crover Kwok Wah; Zhou, Junying; Li, Shirley Xin; Lam, Siu Ping; Yu, Mandy Wai Man; Tang, Xiangdong; Wing, Yun-Kwok

    2015-01-01

    Objectives: To determine the diagnostic values, longitudinal stability, and HLA association of the sleep stage transitions in narcolepsy. Methods: To compare the baseline differences in the sleep stage transition to REM sleep among 35 patients with type 1 narcolepsy, 39 patients with type 2 narcolepsy, 26 unaffected relatives, and 159 non-narcoleptic sleep patient controls, followed by a reassessment at a mean duration of 37.4 months. Results: The highest prevalence of altered transition from stage non-N2/N3 to stage R in multiple sleep latency test (MSLT) and nocturnal polysomnography (NPSG) was found in patients with type 1 narcolepsy (92.0% and 57.1%), followed by patients with type 2 narcolepsy (69.4% and 12.8%), unaffected relatives (46.2% and 0%), and controls (39.3% and 1.3%). Individual sleep variables had varied sensitivity and specificity in diagnosing narcolepsy. By incorporating a combination of sleep variables, the decision tree analysis improved the sensitivity to 94.3% and 82.1% and enhanced specificity to 82.4% and 83% for the diagnosis of type 1 and type 2 narcolepsy, respectively. There was a significant association of DBQ1*0602 with the altered sleep stage transition (OR = 16.0, 95% CI: 1.7–149.8, p = 0.015). The persistence of the altered sleep stage transition in both MSLT and NPSG was high for both type 1 (90.5% and 64.7%) and type 2 narcolepsy (92.3% and 100%), respectively. Conclusions: Altered sleep stage transition is a significant and stable marker of narcolepsy, which suggests a vulnerable wake-sleep dysregulation trait in narcolepsy. Altered sleep stage transition has a significant diagnostic value in the differential diagnosis of hypersomnias, especially when combined with other diagnostic sleep variables in decision tree analysis. Citation: Liu Y, Zhang J, Lam V, Ho CK, Zhou J, Li SX, Lam SP, Yu MW, Tang X, Wing YK. Altered sleep stage transitions of REM sleep: a novel and stable biomarker of narcolepsy. J Clin Sleep Med 2015

  13. Ultrasound Diagnosis and Staging in Pediatric Hidradenitis Suppurativa.

    PubMed

    Wortsman, Ximena; Rodriguez, Carolyn; Lobos, Carolina; Eguiguren, Gonzalo; Molina, Maria Teresa

    2016-07-01

    Hidradenitis suppurativa (HS) can affect children, and ultrasound has been proven to be useful in diagnosis and staging. The sonographic characteristics of HS in children have not been reported. We studied color Doppler ultrasound images of children (≤15 years old; n = 12) with clinically and sonographically positive criteria for HS. Sonographic scoring of hidradenitis suppurativa (SOS-HS) was used to stage the cases sonographically. Subclinical pseudocysts were found in 92% of the cases, fluid collections in 83%, and fistulous tracts in 58%. Retained hair tracts in the fluid collections and fistulous tracts were present in 100% of patients; 67% of cases were SOS-HS stage II. In 92% of cases, management was modified after the ultrasound examination. In conclusion, ultrasound can be a reliable and safe imaging tool to support diagnosis and staging and may help in the noninvasive monitoring of treatment in children. PMID:27292973

  14. Diagnosis of Pediatric Nasopharynx Carcinoma after Recurrent Adenoidectomy

    PubMed Central

    Yıldırım, Güven

    2013-01-01

    Nasopharyngeal soft tissue is most commonly adenoid hypertrophy in children. Although rare, nasopharyngeal carcinoma (NPC) does occur in children. Nasal obstruction, serous otitis media, hearing problems, and tinnitus are common signs and symptoms of all nasal diseases. For this reason, the majority of NPC presents with advanced disease at the time of the diagnosis. This paper reported 7-year-old boy who was admitted to the hospital for adenoidectomy. He had recurrent adenoidectomy operation due to nasal obstruction. NPC had been diagnosed suspecting the hard mass in the nasopharynx during the operation. Adenoidectomy is the most commonly performed surgical procedure in ENT practice and NPC is unlikely to be considered in the differential diagnosis. Surgeon should be careful about signs and symptoms that alert suspicion. PMID:24392236

  15. Going to School with Narcolepsy--Perceptions of Families and Teachers of Children with Narcolepsy

    ERIC Educational Resources Information Center

    Karjalainen, Satu; Nyrhilä, Anna-Maria; Määttä, Kaarina; Uusiautti, Satu

    2014-01-01

    In 2009 and 2010, a large group of Finnish children and adolescents got narcolepsy after the vaccination campaign to prevent swine flu pandemic. A sample of children and adolescents who had gotten narcolepsy after 2009 participated in this study. The purpose of this research was to analyse how narcolepsy that developed from the swine flu…

  16. A probabilistic approach for pediatric epilepsy diagnosis using brain functional connectivity networks

    PubMed Central

    2015-01-01

    Background The lives of half a million children in the United States are severely affected due to the alterations in their functional and mental abilities which epilepsy causes. This study aims to introduce a novel decision support system for the diagnosis of pediatric epilepsy based on scalp EEG data in a clinical environment. Methods A new time varying approach for constructing functional connectivity networks (FCNs) of 18 subjects (7 subjects from pediatric control (PC) group and 11 subjects from pediatric epilepsy (PE) group) is implemented by moving a window with overlap to split the EEG signals into a total of 445 multi-channel EEG segments (91 for PC and 354 for PE) and finding the hypothetical functional connectivity strengths among EEG channels. FCNs are then mapped into the form of undirected graphs and subjected to extraction of graph theory based features. An unsupervised labeling technique based on Gaussian mixtures model (GMM) is then used to delineate the pediatric epilepsy group from the control group. Results The study results show the existence of a statistically significant difference (p < 0.0001) between the mean FCNs of PC and PE groups. The system was able to diagnose pediatric epilepsy subjects with the accuracy of 88.8% with 81.8% sensitivity and 100% specificity purely based on exploration of associations among brain cortical regions and without a priori knowledge of diagnosis. Conclusions The current study created the potential of diagnosing epilepsy without need for long EEG recording session and time-consuming visual inspection as conventionally employed. PMID:25953124

  17. Clinical and polysomnographic course of childhood narcolepsy with cataplexy

    PubMed Central

    Pizza, Fabio; Franceschini, Christian; Peltola, Hanna; Vandi, Stefano; Finotti, Elena; Ingravallo, Francesca; Nobili, Lino; Bruni, Oliviero; Lin, Ling; Edwards, Mark J.; Partinen, Markku; Dauvilliers, Yves; Mignot, Emmanuel; Bhatia, Kailash P.

    2013-01-01

    Our aim was to investigate the natural evolution of cataplexy and polysomnographic features in untreated children with narcolepsy with cataplexy. To this end, clinical, polysomnographic, and cataplexy-video assessments were performed at diagnosis (mean age of 10 ± 3 and disease duration of 1 ± 1 years) and after a median follow-up of 3 years from symptom onset (mean age of 12 ± 4 years) in 21 children with narcolepsy with cataplexy and hypocretin 1 deficiency (tested in 19 subjects). Video assessment was also performed in two control groups matched for age and sex at first evaluation and follow-up and was blindly scored for presence of hypotonic (negative) and active movements. Patients’ data at diagnosis and at follow-up were contrasted, compared with controls, and related with age and disease duration. At diagnosis children with narcolepsy with cataplexy showed an increase of sleep time during the 24 h; at follow-up sleep time and nocturnal sleep latency shortened, in the absence of other polysomnographic or clinical (including body mass index) changes. Hypotonic phenomena and selected facial movements decreased over time and, tested against disease duration and age, appeared as age-dependent. At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hypotonia and motor overactivity. With time, the picture of cataplexy evolves into classic presentation (i.e. brief muscle weakness episodes triggered by emotions), whereas total sleep time across the 24 h decreases, returning to more age-appropriate levels. PMID:24142146

  18. Clinical and polysomnographic course of childhood narcolepsy with cataplexy.

    PubMed

    Pizza, Fabio; Franceschini, Christian; Peltola, Hanna; Vandi, Stefano; Finotti, Elena; Ingravallo, Francesca; Nobili, Lino; Bruni, Oliviero; Lin, Ling; Edwards, Mark J; Partinen, Markku; Dauvilliers, Yves; Mignot, Emmanuel; Bhatia, Kailash P; Plazzi, Giuseppe

    2013-12-01

    Our aim was to investigate the natural evolution of cataplexy and polysomnographic features in untreated children with narcolepsy with cataplexy. To this end, clinical, polysomnographic, and cataplexy-video assessments were performed at diagnosis (mean age of 10 ± 3 and disease duration of 1 ± 1 years) and after a median follow-up of 3 years from symptom onset (mean age of 12 ± 4 years) in 21 children with narcolepsy with cataplexy and hypocretin 1 deficiency (tested in 19 subjects). Video assessment was also performed in two control groups matched for age and sex at first evaluation and follow-up and was blindly scored for presence of hypotonic (negative) and active movements. Patients' data at diagnosis and at follow-up were contrasted, compared with controls, and related with age and disease duration. At diagnosis children with narcolepsy with cataplexy showed an increase of sleep time during the 24 h; at follow-up sleep time and nocturnal sleep latency shortened, in the absence of other polysomnographic or clinical (including body mass index) changes. Hypotonic phenomena and selected facial movements decreased over time and, tested against disease duration and age, appeared as age-dependent. At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hypotonia and motor overactivity. With time, the picture of cataplexy evolves into classic presentation (i.e., brief muscle weakness episodes triggered by emotions), whereas total sleep time across the 24 h decreases, returning to more age-appropriate levels. PMID:24142146

  19. Nanotechnology and Pediatric Cancer: Prevention, Diagnosis and Treatment

    PubMed Central

    Zare-Zardini, H; Amiri, A; Shanbedi, M; Taheri-Kafrani, A; Sadri, Z; Ghanizadeh, F; Neamatzadeh, H; Sheikhpour, R; Keyvani Boroujeni, F; Masoumi Dehshiri, R; Hashemi, A; Aminorroaya, MM; Dehgahnzadeh, MR; Shahriari, Sh

    2015-01-01

    Despite development of new approaches for the treatment of cancer disease, it is the second cause of mortality in world. Annually, 30000 persons die in Iran due to cancer diseases. Eighty percent of cancer patients are children which about 50% children lead to death. Given the high rate of cancer-related death, the new approaches for prevention, control, early diagnosis, and treatment of this disease seem necessary. Investigation of new strategies is the major challenge for scientists at recent century. Nanotechnology as a new scientific field with novel and small compounds utilized different fields over the past ten years especially in medicine. This science has come to the forefront in the areas of medical diagnostics, imaging, and therapeutic scheduls. Therefore, it has the potential applications for cancer detection and therapy. This review will discuss the therapeutic applications of different nano-materials in diagnosis, imaging, and delivery of therapeutic agents for the treatment of cancer with a major focus on their applications for the treatment of cancer and cancer- related diseases in children. The advancements in established nanoparticle technologies such as liposomes, polymer micelles, and functionalization regarding tumor targeting and controlled release strategies as well as drug delivery were discussed. It will also review the blood toxicity of used nanostructures. PMID:26985357

  20. Frequencies and Associations of Narcolepsy-Related Symptoms: A Cross-Sectional Study

    PubMed Central

    Kim, Lenise Jihe; Coelho, Fernando Morgadinho; Hirotsu, Camila; Araujo, Paula; Bittencourt, Lia; Tufik, Sergio; Andersen, Monica Levy

    2015-01-01

    Objectives: Narcolepsy is a disabling disease with a delayed diagnosis. At least 3 years before the disorder identification, several comorbidities can be observed in patients with narcolepsy. The early recognition of narcolepsy symptoms may improve long-term prognosis of the patients. Thus, we aimed to investigate the prevalence of the symptoms associated with narcolepsy and its social and psychological association in a sample of Sao Paulo city inhabitants. Methods: We performed a cross-sectional evaluation with 1,008 individuals from the Sao Paulo Epidemiologic Sleep Study (EPISONO). Excessive daytime sleepiness (EDS) was assessed by the Epworth Sleepiness Scale. Volunteers were also asked about the occurrence of cataplectic-like, hypnagogic or hypnopompic hallucinations, and sleep paralysis symptoms. The participants underwent a full-night polysomnography and completed questionnaires about psychological, demographic, and quality of life parameters. Results: We observed a prevalence of 39.2% of EDS, 15.0% of cataplectic-like symptom, 9.2% of hypnagogic or hypnopompic hallucinations, and 14.9% of sleep paralysis in Sao Paulo city inhabitants. A frequency of 6.9% was observed when EDS and cataplectic-like symptoms were grouped. The other associations were EDS + hallucinations (4.7%) and EDS + sleep paralysis (7.5%). Symptomatic participants were predominantly women and younger compared with patients without any narcolepsy symptom (n = 451). Narcolepsy symptomatology was also associated with a poor quality of life and symptoms of depression, anxiety, and fatigue. Conclusions: Narcolepsy-related symptoms are associated with poor quality of life and worse psychological parameters. Citation: Kim LJ, Coelho FM, Hirotsu C, Araujo P, Bittencourt L, Tufik S, Andersen ML. Frequencies and associations of narcolepsy-related symptoms: a cross-sectional study. J Clin Sleep Med 2015;11(12):1377–1384. PMID:26235160

  1. [Cherubism: diagnosis and treatment in the pediatric age].

    PubMed

    Sánchez Burgos, R; Martín Pérez, M; Ramírez Piqueras, M; Gómez García, E; Burgueño García, M

    2012-01-01

    Cherubism is a benign bone dysplasia of childhood, exclusively involving maxillary bones and spontaneous resolving after puberty in different grades. Approximately, 280 cases have been reviewed in the literature. It is an autosomal dominant disorder in which the normal bone is replaced by cellular fibrous and immature bone, resulting in painless symmetrical enlargement of the jaws. Diagnosis is based in clinical and radiological findings, confirmed by histology. Treatment is a controversial issue, and it is recommended surgical management as conservative as possible during the rapid growth phases. An aggressive case of cherubism is reported, diagnosed and followed since early childhood until puberty, with progressive involvement of facial bones developing in a disruption of facial contours and occlusion. The patient is treated by several surgical interventions oriented to minimize the aesthetic impact of the disease being as conservative as possible. The highlights of this case are the great proportion of the lesions, the functional and emotional disturbances brought out by these lesions and the difficulty to choose the most appropriate age and form of treatment. PMID:23113415

  2. Increased Lucid Dreaming Frequency in Narcolepsy

    PubMed Central

    Rak, Michael; Beitinger, Pierre; Steiger, Axel; Schredl, Michael; Dresler, Martin

    2015-01-01

    Study Objective: Nightmares are a frequent symptom in narcolepsy. Lucid dreaming, i.e., the phenomenon of becoming aware of the dreaming state during dreaming, has been demonstrated to be of therapeutic value for recurrent nightmares. Data on lucid dreaming in narcolepsy patients, however, is sparse. The aim of this study was to evaluate the frequency of recalled dreams (DF), nightmares (NF), and lucid dreams (LDF) in narcolepsy patients compared to healthy controls. In addition, we explored if dream lucidity provides relief during nightmares in narcolepsy patients. Design: We interviewed patients with narcolepsy and healthy controls. Setting: Telephone interview. Patients: 60 patients diagnosed with narcolepsy (23–82 years, 35 females) and 919 control subjects (14–93 years, 497 females) Interventions: N/A. Measurements and Results: Logistic regression revealed significant (P < 0.001) differences in DF, NF, and LDF between narcolepsy patients and controls after controlling for age and gender, with effect sizes lying in the large range (Cohen's d > 0.8). The differences in NF and LDF between patients and controls stayed significant after controlling for DF. Comparison of 35 narcolepsy patients currently under medication with their former drug-free period revealed significant differences in DF and NF (z < 0.05, signed-rank test) but not LDF (z = 0.8). Irrespective of medication, 70% of narcolepsy patients with experience in lucid dreaming indicated that dream lucidity provides relief during nightmares. Conclusion: Narcolepsy patients experience a markedly higher lucid dreaming frequency compared to controls, and many patients report a positive impact of dream lucidity on the distress experienced from nightmares. Citation: Rak M, Beitinger P, Steiger A, Schredl M, Dresler M. Increased lucid dreaming frequency in narcolepsy. SLEEP 2015;38(5):787–792. PMID:25325481

  3. Brain Death in Pediatric Patients in Japan: Diagnosis and Unresolved Issues

    PubMed Central

    ARAKI, Takashi; YOKOTA, Hiroyuki; FUSE, Akira

    2016-01-01

    Brain death (BD) is a physiological state defined as complete and irreversible loss of brain function. Organ transplantation from a patient with BD is controversial in Japan because there are two classifications of BD: legal BD in which the organs can be donated and general BD in which the organs cannot be donated. The significance of BD in the terminal phase remains in the realm of scientific debate. As indicated by the increasing number of organ transplants from brain-dead donors, certain clinical diagnosis for determining BD in adults is becoming established. However, regardless of whether or not organ transplantation is involved, there are many unresolved issues regarding BD in children. Here, we will discuss the historical background of BD determination in children, pediatric emergencies and BD, and unresolved issues related to pediatric BD. PMID:26548741

  4. Next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer.

    PubMed

    Glod, John; Song, Mihae; Sharma, Archana; Tyagi, Rachana; Rhodes, Roy H; Weissmann, David J; Roychowdhury, Sudipta; Khan, Atif; Kane, Michael P; Hirshfield, Kim; Ganesan, Shridar; DiPaola, Robert S; Rodriguez-Rodriguez, Lorna

    2014-01-01

    Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics. PMID:25563358

  5. Adolescent and Pediatric Brain Tumors

    MedlinePlus

    ... abta.org Donate Now Menu Adolescent & Pediatric Brain Tumors Brain Tumors In Children Pediatric Brain Tumor Diagnosis Family ... or Complete our contact form Adolescent & Pediatric Brain Tumors Brain Tumors In Children Pediatric Brain Tumor Diagnosis Family ...

  6. Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcus: Comparison of Diagnosis and Treatment in the Community and at a Specialty Clinic

    PubMed Central

    Gabbay, Vilma; Coffey, Barbara J.; Babb, James S.; Meyer, Laura; Wachtel, Carly; Anam, Seeba; Rabinovitz, Beth

    2009-01-01

    OBJECTIVES This study aimed to examine whether pediatric autoimmune neuropsychiatric disorders associated with streptococcus were appropriately diagnosed in the community and to determine subsequent rates of unwarranted use of antibiotic treatment for tics and obsessive-compulsive symptoms without the identification of an infection. METHODS The design was a retrospective, cross-sectional, observational study of 176 children and adolescents who were evaluated in a specialty program for tics, Tourette's disorder, and related problems. Previously published diagnostic criteria were used to establish the diagnosis of pediatric autoimmune neuropsychiatric disorders associated with streptococcus in our clinic. RESULTS Subjects were significantly less likely to receive a diagnosis of pediatric autoimmune neuropsychiatric disorders associated with streptococcus at the specialty clinic than in the community. In the community, subjects were significantly more likely to be treated with antibiotics or immunosuppressant medication if they received a diagnosis of pediatric autoimmune neuropsychiatric disorders associated with streptococcus. Of the 27 subjects with a community diagnosis of pediatric autoimmune neuropsychiatric disorders associated with streptococcus who were treated with antibiotics, 22 (82%) were treated without laboratory evidence of an infection; 2 were treated with immunomodulatory medications. CONCLUSIONS Our results support our hypothesis that pediatric autoimmune neuropsychiatric disorders associated with streptococcus are frequently diagnosed in the community without the application of all working diagnostic criteria. This phenomenon has resulted in unwarranted use of antibiotic treatment for tics/obsessive-compulsive disorder without evidence of laboratory infection. PMID:18676543

  7. Pediatrics

    NASA Technical Reports Server (NTRS)

    Spackman, T. J.

    1978-01-01

    The utilization of the Lixiscope in pediatrics was investigated. The types of images that can presently be obtained are discussed along with the problems encountered. Speculative applications for the Lixiscope are also presented.

  8. Clinical and Neurobiological Aspects of Narcolepsy

    PubMed Central

    Nishino, Seiji

    2007-01-01

    Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and/or other dissociated manifestations of rapid eye movement (REM) sleep (hypnagogic hallucinations and sleep paralysis). Narcolepsy is currently treated with amphetamine-like central nervous system (CNS) stimulants (for EDS) and antidepressants (for cataplexy). Some other classes of compounds such as modafinil (a non-amphetamine wake-promoting compound for EDS) and gamma-hydroxybutyrate (GHB, a short-acting sedative for EDS/fragmented nighttime sleep and cataplexy) given at night are also employed. The major pathophysiology of human narcolepsy has been recently elucidated based on the discovery of narcolepsy genes in animals. Using forward (i.e., positional cloning in canine narcolepsy) and reverse (i.e., mouse gene knockout) genetics, the genes involved in the pathogenesis of narcolepsy (hypocretin/orexin ligand and its receptor) in animals have been identified. Hypocretins/orexins are novel hypothalamic neuropeptides also involved in various hypothalamic functions such as energy homeostasis and neuroendocrine functions. Mutations in hypocretin-related genes are rare in humans, but hypocretin-ligand deficiency is found in many narcolepsy-cataplexy cases. In this review, the clinical, pathophysiological and pharmacological aspects of narcolepsy are discussed. PMID:17470414

  9. Narcolepsy: neural mechanisms of sleepiness and cataplexy

    PubMed Central

    Burgess, C.R.; Scammell, T.E.

    2012-01-01

    Narcolepsy is a common sleep disorder characterized by excessive daytime sleepiness and cataplexy - episodes of muscle weakness triggered by positive emotions. Over the last few years, researchers have discovered that narcolepsy results from a selective loss of neurons in the lateral hypothalamus that produce the orexin/hypocretin neuropeptides. While an autoimmune process is thought to underlie the loss of the orexin neurons this has not yet been conclusively demonstrated. Similarly, it is only partially understood how loss of the orexin neurons results in the various symptoms of narcolepsy. Studies in human patients and animal models of narcolepsy suggest that excessive sleepiness is due to behavioral state instability rather than disruption of sleep homeostasis or circadian rhythms. Cataplexy may result from the inappropriate activation during wakefulness of the pontine circuits that normally generate muscle atonia during REM sleep. This article reviews the clinical features and neurobiology of narcolepsy and outlines important areas in which progress might be achieved. PMID:22956821

  10. Diabetes screening, diagnosis, and therapy in pediatric patients with type 2 diabetes.

    PubMed

    Rodbard, Helena W

    2008-01-01

    The dramatic rise in the incidence and prevalence of type 2 diabetes mellitus in the pediatric and adolescent populations has been associated with the ongoing epidemic of overweight, obesity, insulin resistance, and metabolic syndrome seen in these age groups. Although the majority of pediatric patients diagnosed with diabetes are still classified as having type 1 diabetes, almost 50% of patients with diabetes in the pediatric age range (under 18 years) may have type 2 diabetes. Screening of high-risk patients for diabetes and prediabetes is important. Prompt diagnosis and accurate diabetes classification facilitate appropriate and timely treatment and may reduce the risk for complications. This is especially important in children because lifestyle interventions may be successful and the lifelong risk for complications is greatest. Treatment usually begins with dietary modification, weight loss, and a structured program of physical exercise. Oral antidiabetic agents are added when lifestyle intervention alone fails to maintain glycemic control. Given the natural history of type 2 diabetes, most if not all patients will eventually require insulin therapy. In those requiring insulin, improved glycemic control and reduced frequency of hypoglycemia can be achieved with insulin analogs. It is common to add insulin therapy to existing oral therapy only when oral agents no longer provide adequate glycemic control. PMID:18924636

  11. Pediatric Stroke

    PubMed Central

    Jeong, Goun; Lim, Byung Chan

    2015-01-01

    Pediatric stroke is relatively rare but may lead to significant morbidity and mortality. Along with the advance of brain imaging technology and clinical awareness, diagnosis of pediatric stroke is increasing wordwide. Pediatric stroke differs from adults in variable risk factor/etiologies, diverse and nonspecific clinical presentation depending on ages. This review will be discussed pediatric stroke focusing on their clinical presentations, diagnosis and etiologies/risk factors. PMID:26180605

  12. Diagnosis of cardiac disease in pediatric end-stage renal disease

    PubMed Central

    Chavers, Blanche M.; Solid, Craig A.; Sinaiko, Alan; Daniels, Frank X.; Chen, Shu-Cheng; Collins, Allan J.; Frankenfield, Diane L.; Herzog, Charles A.

    2011-01-01

    Background. Cardiac disease is a significant cause of morbidity and mortality in children with end-stage renal disease (ESRD). This study aimed to report the frequency of cardiac disease diagnostic methods used in US pediatric maintenance hemodialysis patients. Methods. A cross-sectional analysis of all US pediatric (ages 0.7–18 years, n = 656) maintenance hemodialysis patients was performed using data from the Centers for Medicare and Medicaid Services ESRD Clinical Performance Measures Project. Clinical and laboratory information was collected in 2001. Results were analysed by age, sex, race, Hispanic ethnicity, dialysis duration, body mass index (BMI), primary ESRD cause and laboratory data. Results. Ninety-two percent of the patients had a cardiovascular risk factor (63% hypertension, 38% anemia, 11% BMI > 94th percentile, 63% serum phosphorus > 5.5 mg/dL and 55% calcium–phosphorus product ≥ 55 mg2/dL2). A diagnosis of cardiac disease was reported in 24% (n = 155) of all patients: left ventricular hypertrophy/enlargement 17%, congestive heart failure/pulmonary edema 8%, cardiomyopathy 2% and decreased left ventricular function 2%. Thirty-one percent of patients were not tested. Of those tested, the diagnostic methods used were chest X-rays in 60%, echocardiograms in 35% and electrocardiograms in 33%; left ventricular hypertrophy/enlargement was diagnosed using echocardiogram (72%), chest X-ray (20%) and electrocardiogram (15%). Conclusions. Although 92% of patients had cardiovascular risk factors, an echocardiography was performed in only one-third of the patients. Our study raises the question of why echocardiography, considered the gold standard for cardiac disease diagnosis, has been infrequently used in pediatric maintenance dialysis patients, a high-risk patient population. PMID:20861193

  13. Paraneoplastic limbic encephalitis and possible narcolepsy in a patient with testicular cancer: case study.

    PubMed Central

    Landolfi, Joseph C.; Nadkarni, Mangala

    2003-01-01

    We describe a patient who presented with a clinical syndrome of limbic encephalitis, narcolepsy, and cataplexy. The anti-Ma2 antibody was positive. Although there was no mass on imaging, orchiectomy was performed in this patient, and testicular carcinoma was found. This is the first known case of limbic encephalitis and anti-Ma2 antibody to be associated with cataplexy and possible narcolepsy. Neurological symptoms precede the diagnosis of cancer in 50% of patients with paraneoplastic syndromes, and clinicians are therefore strongly advised to evaluate patients with neurological symptoms for this condition. PMID:12816728

  14. Hypothalamic-Amygdalar-Brainstem Volume Reduction in a Patient with Narcolepsy Secondary to Diffuse Axonal Injury

    PubMed Central

    Yassin, Walid; Sugihara, Genichi; Oishi, Naoya; Kubota, Manabu; Ubukata, Shiho; Murai, Toshiya; Ueda, Keita

    2015-01-01

    A 17-year-old male with diffuse axonal injury (DAI) was referred to our psychiatric clinic with a diagnosis of depression. However, further investigation indicated that he had narcolepsy without cataplexy secondary to DAI. We assessed regional volume alterations in the patient; MRI analysis showed a significant decrease in the volume of the hypothalamus, left amygdala, and brainstem. Our findings add to further understanding of the structural basis of secondary narcolepsy, and may provide basis for future neuroimaging studies on sleep disturbances in traumatic brain injury (TBI). Citation: Yassin W, Sugihara G, Oishi N, Kubota M, Ubukata S, Murai T, Ueda K. Hypothalamic-amygdalar-brainstem volume reduction in a patient with narcolepsy secondary to diffuse axonal injury. J Clin Sleep Med 2015;11(5):581–582. PMID:25665696

  15. Diagnosis and Treatment of Pediatric Acquired Aplastic Anemia (AAA): an Initial Survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)

    PubMed Central

    Williams, David A.; Bennett, Carolyn; Bertuch, Alison; Bessler, Monica; Coates, Thomas; Corey, Seth; Dror, Yigal; Huang, James; Lipton, Jeffrey; Olson, Timothy S.; Reiss, Ulrike M.; Rogers, Zora R.; Sieff, Colin; Vlachos, Adrianna; Walkovich, Kelly; Wang, Winfred; Shimamura, Akiko

    2014-01-01

    Background Randomized clinical trials in pediatric aplastic anemia (AA) are rare and data to guide standards of care are scarce. Procedure Eighteen pediatric institutions formed the North American Pediatric Aplastic Anemia Consortium to foster collaborative studies in AA. The initial goal of NAPAAC was to survey the diagnostic studies and therapies utilized in AA. Results Our survey indicates considerable variability among institutions in the diagnosis and treatment of AA. There were areas of general consensus, including the need for a bone marrow evaluation, cytogenetic and specific fluorescent in-situ hybridization assays to establish diagnosis and exclude genetic etiologies with many institutions requiring results prior to initiation of immunosuppressive therapy (IST); uniform referral for hematopoietic stem cell transplantation as first line therapy if an HLA-identical sibling is identified; the use of first-line IST containing horse anti-thymocyte globulin and cyclosporine A (CSA) if an HLA-identical sibling donor is not identified; supportive care measures; and slow taper of CSA after response. Areas of controversy included the need for telomere length results prior to IST, the time after IST initiation defining a treatment failure; use of hematopoietic growth factors; the preferred rescue therapy after failure of IST; the use of specific hemoglobin and platelet levels as triggers for transfusion support; the use of prophylactic antibiotics; and follow-up monitoring after completion of treatment. Conclusions These initial survey results reflect heterogeneity in diagnosis and care amongst pediatric centers and emphasize the need to develop evidence-based diagnosis and treatment approaches in this rare disease. PMID:24285674

  16. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases

    PubMed Central

    Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

    2015-01-01

    Study Objectives: The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Methods and Results: Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Conclusions: Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. Citation: Baiardi S, Vandi S, Pizza F, Alvisi L, Toscani L, Zambrelli E, Tinuper P, Mayer G, Plazzi G. Narcolepsy type 1 and

  17. Types of pediatric diabetes mellitus defined by anti-islet autoimmunity and random C-peptide at diagnosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective of this study was to test the hypothesis that anti-islet autoantibody expression and random serum C-peptide obtained at diagnosis define phenotypes of pediatric diabetes with distinct clinical features. We analyzed 607 children aged <19 yr consecutively diagnosed with diabetes after ex...

  18. [Diagnosis and treatment of Helicobacter pylori infection in pediatrics: recommendation for 2014 clinical practice].

    PubMed

    Oderda, G; Marietti, M; Pellicano, R

    2015-12-01

    Helicobacter pylori (H. pylori) infection is a large worldwide infection usually acquired during childhood, whose prevalence in pediatric population varies, with lower incidence rates in developed countries compared to developing countries (up to 10-15% and 70%, respectively). Diagnosis can be performed both with endoscopic-based methods and noninvasive diagnostic tests, such as urea breath test and fecal antigen. Current guidelines recommend endoscopic evaluation of the young patients, in order to determine the underlying cause of abdominal pain. Even in case of suspected functional pain, patient should not be investigated for infection, unless upper endoscopy is performed to rule out organic causes. Nowadays, in pediatric population, applications of noninvasive tests are limited to verifying eradication after therapy and to investigating the presence of infection in asymptomatic patients with first-degree relatives affected by gastric cancer. Since correlation between abdominal pain and H. pylori gastritis, in absence of peptic ulcer disease is still debated, "test and treat" strategy is not recommended in children. As for adults, treatment regimens are based on the combination of proton-pump inhibitor and two or more antibiotics, for 7-14 days, depending on resistance rates of geographic areas. PMID:26530493

  19. [Narcolepsy with cataplexy: an autoimmune disease?].

    PubMed

    Jacob, Louis; Dauvilliers, Yves

    2014-12-01

    Narcolepsy type 1 (also named narcolepsy-cataplexy or hypocretin deficiency syndrome) is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy, plus frequently hypnagogic hallucinations, sleep paralysis and nocturnal sleep disturbances. Narcolepsy type 1 is an immune system-associated disease linked with the destruction of 70.000-90.000 hypocretin neurons notably involved in wakefulness. Among narcoleptic patients, 98% are positive for HLA-DQB1*06:02, a HLA class II allele, against 20-25% in general population. Individuals carrying HLA-DQB1*06:02 have an extraordinary risk to develop narcolepsy (odd ratio: 251). Other genes involved in CD4+ T cells and immune system activation as T-cell receptor α are also associated with narcolepsy. The development of the disease is linked with environmental factors such as influenza and streptococcal infections. Narcolepsy type 1 incidence also increased in Europe following the use of Pandemrix, a 2009 H1N1 AS03-adjuvanted vaccine manufactured by GlaxoSmithKline. Interestingly, such increase was not observed with Arepanrix, another vaccine developed by GSK very similar to Pandemrix. PMID:25537044

  20. Intracranial Pial Arteriovenous Fistulae: Diagnosis and Treatment Techniques in Pediatric Patients with Review of Literature

    PubMed Central

    Alurkar, Anand; Karanam, Lakshmi Sudha Prasanna; Nayak, Suresh; Ghanta, Rajesh Kumar

    2016-01-01

    Pial arteriovenous fistulae (AVF) are rare vascular lesions comprising single or multiple arterial feeders draining directly into the venous channel without intervening tangle of blood vessels as in brain AV malformations. In our present paper, we describe three cases of pial AVF in the pediatric age group with different presentations treated successfully with endovascular and surgical methods. Two patients underwent treatment for pial AVF by the endovascular technique and one by surgical clipping. The treatments were successful with good clinical outcome. We did not encounter any peri-procedural complications in any of the cases. Pial AVF is a rare entity and high degree of suspicion and adequate clinical and imaging knowledge is required to make the diagnosis. Exclusion of the fistula from the cerebral circulation should be done at the earliest to prevent devastating complications that result during the natural course of the disease. PMID:26958432

  1. Exploiting molecular biology for diagnosis and targeted management of pediatric low-grade gliomas.

    PubMed

    Garcia, Michael A; Solomon, David A; Haas-Kogan, Daphne A

    2016-06-01

    The majority of brain tumors arising in children are low-grade gliomas. Although historically categorized together as pediatric low-grade gliomas (PLGGs), there is significant histologic and genetic diversity within this group. In general, prognosis for PLGGs is excellent, and limitation of sequelae from tumor and treatment is paramount. Advances in high-throughput genetic sequencing and gene expression profiling are fundamentally changing the way PLGGs are classified and managed. Here, we review the histologic subtypes and highlight how recent advances in elucidating the molecular pathogenesis of these tumors have refined diagnosis and prognostication. Additionally, we discuss how characterizing specific genetic alterations has paved the way for the rational use of targeted therapies that are currently in various phase clinical trials. PMID:27072750

  2. Urine Toxicology Screen in Multiple Sleep Latency Test: The Correlation of Positive Tetrahydrocannabinol, Drug Negative Patients, and Narcolepsy

    PubMed Central

    Dzodzomenyo, Samuel; Stolfi, Adrienne; Splaingard, Deborah; Earley, Elizabeth; Onadeko, Oluwole; Splaingard, Mark

    2015-01-01

    Objective: Drugs can influence results of multiple sleep latency tests (MSLT). We sought to identify the effect of marijuana on MSLT results in pediatric patients evaluated for excessive daytime sleepiness (EDS). Methods: This is a retrospective study of urine drug screens performed the morning before MSLT in 383 patients < 21 years old referred for EDS. MSLT results were divided into those with (1) (−) urine drug screens, (2) urine drug screens (+) for tetrahydrocannabinol (THC) alone or THC plus other drugs, and (3) urine drug screens (+) for drugs other than THC. Groups were compared with Fisher exact tests or one-way ANOVA. Results: 38 (10%) urine drug tests were (+): 14 for THC and 24 for other drugs. Forty-three percent of patients with drug screen (+) for THC had MSLT findings consistent with narcolepsy, 0% consistent with idiopathic hypersomnia, 29% other, and 29% normal. This was statistically different from those with (−) screens (24% narcolepsy, 20% idiopathic hypersomnia, 6% other, 50% normal), and those (+) for drugs other than THC (17% narcolepsy, 33% idiopathic hypersomnia, 4% other, 46% normal (p = 0.01). Six percent (6/93) of patients with MSLT findings consistent with narcolepsy were drug screen (+) for THC; 71% of patients with drug screen (+) for THC had multiple sleep onset REM periods (SOREMS). There were no (+) urine drug screens in patients < 13 years old. Conclusion: Many pediatric patients with (+) urine drug screens for THC met MSLT criteria for narcolepsy or had multiple SOREMs. Drug screening is important in interpreting MSLT findings for children ≥ 13 years. Citation: Dzodzomenyo S, Stolfi A, Splaingard D, Earley E, Onadeko O, Splaingard M. Urine toxicology screen in multiple sleep latency test: the correlation of positive tetrahydrocannabinol, drug negative patients, and narcolepsy. J Clin Sleep Med 2015;11(2):93–99. PMID:25348245

  3. A Canadian Study toward Changing Local Practice in the Diagnosis of Pediatric Celiac Disease.

    PubMed

    Rajani, Seema; Huynh, Hien Q; Shirton, Leanne; Kluthe, Cheryl; Spady, Donald; Prosser, Connie; Meddings, Jon; Rempel, Gwen R; Persad, Rabindranath; Turner, Justine M

    2016-01-01

    Background. The European Society for Pediatric Gastroenterology, Hepatology and Nutrition endorses serological diagnosis (SD) for pediatric celiac disease (CD). The objective of this study was to pilot SD and to prospectively evaluate gastrointestinal permeability and mucosal inflammation at diagnosis and after one year on the gluten-free diet (GFD). We hypothesized that SD would be associated with similar short term outcomes as ED. Method. Children, 3-17 years of age, referred for possible CD were eligible for SD given aTTG level ≥200 U/mL, confirmed by repeat aTTG and HLA haplotypes. Gastrointestinal permeability, assessed using sugar probes, and inflammation, assessed using fecal calprotectin (FC), at baseline and after one year on a GFD were compared to patients who had ED. Results. Enrolled SD (n = 40) and ED (n = 48) patients had similar demographics. ED and SD groups were not different in baseline lactulose: mannitol ratio (L : M) (0.049 versus 0.034; p = 0.07), fractional excretion of sucrose (%FES; 0.086 versus 0.092; p = 0.44), or fecal calprotectin (FC; 89.6 versus 51.4; p = 0.05). At follow-up, urine permeability improved and was similar between groups, L : M (0.022 versus 0.025; p = 0.55) and %FES (0.040 versus 0.047; p = 0.87) (p > 0.05). FC improved but remained higher in the SD group (37.1 versus 15.9; p = 0.04). Conclusion. Patients on the GFD showed improved intestinal permeability and mucosal inflammation regardless of diagnostic strategy. This prospective study supports that children diagnosed by SD have resolving mucosal disease early after commencing a GFD. PMID:27446854

  4. Narcolepsy

    MedlinePlus

    ... fall asleep or when you wake up. During hallucinations , you may feel afraid or under attack. SLEEP ... help reduce episodes of cataplexy, sleep paralysis, and hallucinations. Sodium oxybate (Xyrem) works well to control cataplexy. ...

  5. Narcolepsy

    MedlinePlus

    ... you may fall and stay paralyzed for as long as several minutes. HALLUCNATIONS You see or hear things that aren't there, either as you fall asleep or when you wake up. During hallucinations , you may feel afraid or under ...

  6. Association between body mass index at diagnosis and pediatric leukemia mortality and relapse: a systematic review and meta-analysis.

    PubMed

    Amankwah, Ernest K; Saenz, Ashleigh M; Hale, Gregory A; Brown, Patrick A

    2016-05-01

    Obesity is a risk factor for mortality and relapse of certain cancers. However, existing evidence for pediatric leukemia is inconsistent. The aim of this systematic review and meta-analysis was to evaluate the association between obesity at diagnosis and pediatric acute leukemia mortality and relapse. This study systematically searched MEDLINE and EMBASE from inception to February 5, 2015. Random-effect models were used to generate pooled estimates of study-specific hazard ratios (HR) and 95% confidence intervals (CI). Eleven studies were included. An increased risk of mortality with a high BMI at diagnosis was observed (overall survival: HR = 1.30, 95% CI = 1.16-1.46 and event-free survival: HR = 1.46, 95% CI = 1.29-1.64). Only two studies reported HR for relapse; one reported a reduced risk, while the other reported an increased risk. A high BMI at diagnosis is associated with poor overall and event-free survival among pediatric acute leukemia patients. Targeted therapeutic approaches for obese pediatric leukemia patients may potentially improve survival outcomes. PMID:26453440

  7. Ultrasound based computer-aided-diagnosis of kidneys for pediatric hydronephrosis

    NASA Astrophysics Data System (ADS)

    Cerrolaza, Juan J.; Peters, Craig A.; Martin, Aaron D.; Myers, Emmarie; Safdar, Nabile; Linguraru, Marius G.

    2014-03-01

    Ultrasound is the mainstay of imaging for pediatric hydronephrosis, though its potential as diagnostic tool is limited by its subjective assessment, and lack of correlation with renal function. Therefore, all cases showing signs of hydronephrosis undergo further invasive studies, like diuretic renogram, in order to assess the actual renal function. Under the hypothesis that renal morphology is correlated with renal function, a new ultrasound based computer-aided diagnosis (CAD) tool for pediatric hydronephrosis is presented. From 2D ultrasound, a novel set of morphological features of the renal collecting systems and the parenchyma, is automatically extracted using image analysis techniques. From the original set of features, including size, geometric and curvature descriptors, a subset of ten features are selected as predictive variables, combining a feature selection technique and area under the curve filtering. Using the washout half time (T1/2) as indicative of renal obstruction, two groups are defined. Those cases whose T1/2 is above 30 minutes are considered to be severe, while the rest would be in the safety zone, where diuretic renography could be avoided. Two different classification techniques are evaluated (logistic regression, and support vector machines). Adjusting the probability decision thresholds to operate at the point of maximum sensitivity, i.e., preventing any severe case be misclassified, specificities of 53%, and 75% are achieved, for the logistic regression and the support vector machine classifier, respectively. The proposed CAD system allows to establish a link between non-invasive non-ionizing imaging techniques and renal function, limiting the need for invasive and ionizing diuretic renography.

  8. Reward-Seeking Behavior in Human Narcolepsy

    PubMed Central

    Dimitrova, Alexandra; Fronczek, Rolf; Van der Ploeg, Janneke; Scammell, Thomas; Gautam, Shiva; Pascual-Leone, Alvaro; Lammers, Gert Jan

    2011-01-01

    Study Objectives: The hypocretin system enhances signaling in the mesolimbic pathways regulating reward processing and addiction. Because individuals with narcolepsy with cataplexy have low hypocretin levels, we hypothesized that they may be less prone to risk- and reward-seeking behaviors, including substance abuse. Design: Endpoints were performance on an array of psychometric tests (including the Eysenck Impulsiveness Scale, the Zuckerman Sensation Seeking Scale, the Gormally Binge Eating Scale, and the Beck Depression and Anxiety Inventory) and on the Balloon Analogue Risk Task (BART). Setting: Tertiary narcolepsy referral centers in Leiden (The Netherlands) and Boston (USA). Patients: Subjects with narcolepsy with cataplexy (n = 30), narcolepsy without cataplexy (n = 15), and controls (n = 32) matched for age, sex, and smoking behavior. Interventions: None. Measurements and Results: There was no difference in risk-taking behavior between narcolepsy with or without cataplexy and the control group, as measured using the BART and the array of questionnaires. However, subjects in the narcolepsy with cataplexy group had significantly higher scores on the Eysenck Impulsiveness Scale (p < 0.05), with 10.0% categorized as impulsive, compared to 6.7% of the narcolepsy without cataplexy group and none of the controls. Narcoleptics with cataplexy also scored significantly higher than controls on the Binge Eating Scale (p < 0.05), with moderate or severe binge eating in 23%. On the depression and anxiety scales, all narcolepsy patients, especially those with cataplexy, scored significantly higher than controls. Conclusions: We found that narcoleptics with or without cataplexy generally have normal risk-taking behavior, but narcoleptics with cataplexy were more impulsive and more prone to binge eating than patients without cataplexy and controls. Our findings shed new light on the relation between sleepiness and impulsiveness. Furthermore, rates of depression and anxiety

  9. Development of a Pediatric-Specific Clinical Probability Tool for Diagnosis of Venous Thromboembolism: A Feasibility Study

    PubMed Central

    Kerlin, Bryce A.; Stephens, Julie A.; Hogan, Mark J.; Smoyer, William E.; O'Brien, Sarah H.

    2014-01-01

    Background Pediatric venous thromboembolism (VTE) is an increasingly common, difficult to diagnose problem. Clinical probability tools (CPT) for adults estimate VTE likelihood, but are not available for children. We hypothesized that a pediatric-specific CPT is feasible. Methods Radiology reports were utilized to identify children imaged for suspected VTE. Relevant signs, symptoms, and co-morbidity variables, identified from published literature, were extracted from corresponding medical records. Variables associated with pediatric VTE were incorporated into a multivariate logistic regression to create a pilot CPT which was confirmed on a separate cohort. Results 389 subjects meeting inclusion criteria were identified: 91 with VTE and 298 without. Univariate analysis revealed male gender (OR 2.96; p<0.001), asymmetric extremity (OR 1.76; p=0.033), central venous catheter utilization and/or dysfunction (OR 2.51; p<0.001), and cancer (OR 2.35; p=0.014) as VTE predictive variables. Documentation of an alternate diagnosis was inversely related to VTE (OR 0.42; p=0.004). Receiver operating characteristic analysis of the derived CPT demonstrated reasonable ability to discriminate VTE probability in the training cohort (AUC 0.73; p<0.001) and moderate discrimination in a separate validation cohort of 149 children (AUC 0.64; p=0.011). Conclusion A pediatric-specific VTE CPT is feasible, would facilitate early diagnosis, and could lead to improved outcomes. PMID:25518012

  10. Prognostic factors in pediatric high-grade astrocytoma: the importance of accurate pathologic diagnosis.

    PubMed

    Hales, Russell K; Shokek, Ori; Burger, Peter C; Paynter, Nina P; Chaichana, Kaisorn L; Quiñones-Hinojosa, Alfredo; Jallo, George I; Cohen, Kenneth J; Song, Danny Y; Carson, Benjamin S; Wharam, Moody D

    2010-08-01

    To characterize a population of pediatric high-grade astrocytoma (HGA) patients by confirming the proportion with a correct diagnosis, and determine prognostic factors for survival in a subset diagnosed with uniform pathologic criteria. Sixty-three children diagnosed with HGA were treated at the Johns Hopkins Hospital between 1977 and 2004. A single neuropathologist (P.C.B.) reviewed all available histologic samples (n = 48). Log-rank analysis was used to compare survival by patient, tumor, and treatment factors. Median follow-up was 16 months for all patients and 155 months (minimum 54 months) for surviving patients. Median survival for all patients (n = 63) was 14 months with 10 long-term survivors (survival >48 months). At initial diagnosis, 27 patients were grade III (43%) and 36 grade IV (57%). Forty-eight patients had pathology slides available for review, including seven of ten long-term surviving patients. Four patients had non-HGA pathology, all of whom were long term survivors. The remaining 44 patients with confirmed HGG had a median survival of 14 months and prognostic analysis was confined to these patients. On multivariate analysis, five factors were associated with inferior survival: performance status (Lansky) <80% (13 vs. 15 months), bilaterality (13 vs. 19 months), parietal lobe location (13 vs. 16 months), resection less than gross total (13 vs. 22 months), and radiotherapy dose <50 Gy (9 vs. 16 months). Among patients with more than one of the five adverse factors (n = 27), median survival and proportion of long-term survivors were 12.9 months and 0%, compared with 41.4 months and 18% for patients with 0-1 adverse factors (n = 17). In an historical cohort of children with HGA, the potential for long term survival was confined to the subset with less than two of the following adverse prognostic factors: low performance status, bilaterality, parietal lobe site, less than gross total resection, and radiotherapy dose <50 Gy. Pathologic misdiagnosis

  11. The hypocretins and their role in narcolepsy.

    PubMed

    Kroeger, Daniel; de Lecea, Luis

    2009-08-01

    A series of discoveries spanning the last decade have uncovered a new neurotransmitter - hypocretin - and its role in energy metabolism, arousal, and addiction. Also, notably, a lack of hypocretin function has been unequivocally associated with the sleep disorder narcolepsy. Here we review these findings and discuss how they will influence future treatments of narcolepsy and other arousal and hyperarousal disorders. We introduce the concept of the hypocretin peptides and receptors and discuss the neuroanatomy and neurophysiology of the hypocretin system. A gain of function through pharmacolological and optogenetic means is also addressed in the following text, as is the loss of function: specifically narcolepsy in dogs, mice and humans and the challenges currently faced in treatment. PMID:19689309

  12. Baclofen for narcolepsy with cataplexy: two cases

    PubMed Central

    Lee, Elliott Kyung; Douglass, Alan Bruce

    2015-01-01

    Narcolepsy is a disabling sleep disorder characterized by daytime hypersomnolence. Those with cataplexy have spells of muscle weakness precipitated by strong emotions, especially laughter or surprise. Cataplexy treatments include antidepressants or a GABA-B agonist, gamma hydroxybutyrate (GHB). GHB is the most effective treatment for cataplexy, but is expensive and can have significant side effects. A recent report of a murine model of narcolepsy-cataplexy suggests R-baclofen has potential efficacy against cataplexy. We report on two narcolepsy patients with multiple daily cataplexy episodes, one of whom had been effectively treated with GHB, but had to discontinue it for unrelated medical reasons. Both subsequently tried baclofen and experienced almost complete resolution of cataplexy. This report suggests baclofen can be an effective treatment for cataplexy in humans and warrants further study. PMID:26251634

  13. [Workplace accomodations for two workers with narcolepsy].

    PubMed

    Vico Garcerán, Belén; Monzó Salas, Monserrat; Cuenca Esteve, Francisco; Luis Domingo, José

    2013-01-01

    We describe the case of two workers evaluated in our occupational health unit. The first worker was a kitchen aide; the second was a primary care physician. Both had been diagnosed with narcolepsy and had obvious disability.We assessed occupational hazards related to their jobs, analysed their tasks, and performed medical examinations. Afterwards, we offered recommendations to the patients, consisting of avoidance of situations involving a risk of work accidents and improving their sleep habits. Narcolepsy is a rare disorder, but it has important social and occupational consequences. A better understanding of the disease and some work accommodations can help improve the quality of life of affected workers. PMID:23700708

  14. Cataplexy as a side effect of modafinil in a patient without narcolepsy.

    PubMed

    Lopes, Eduardo; Pereira, Danielle; da Silva Behrens, Nilce Sanny Costa; de Almeida Fonseca, Hassana; Calvancanti, Paola Oliveira; de Araújo Lima, Taís Figueiredo; Pradella-Hallinan, Marcia; Castro, Juliana; Tufik, Sergio; Coelho, Fernando Morgadinho Santos

    2014-03-01

    Narcolepsy is a disease in which there is diurnal excessive sleepiness with sleep attacks and a prevalence in the general population of 1/4000 individuals. Classically, it is characterized by cataplexy, sleep paralysis, hypnagogic hallucinations and fragmented sleep. The use of modafinil in the treatment of narcolepsy is the first option of treatment for diurnal excessive sleepiness. Although considered a safe drug for use in patients with narcolepsy, being utilized for more than 20 years, modafinil possesses a series of side effects, some of them still not fully researched or described. Side effects such as headache, nausea, anxiety, insomnia, lumbago, diarrhea, dyspepsia, rhinitis and vertigo are the most frequent. However, the clinical follow-up of patients under treatment with modafinil must be intensive and the side effects ought to be noted and evaluated. The under-response to treatment or the unexpected side effects must always be directed to differential diagnostics. The objective of this article is to describe an unexpected side effect of the use of modafinil in a patient with incorrect diagnosis of narcolepsy. PMID:26483900

  15. Pediatric sialadenitis.

    PubMed

    Francis, Carrie L; Larsen, Christopher G

    2014-10-01

    Sialadenitis in the pediatric population accounts for up to 10% of all salivary gland disease. Viral parotitis and juvenile recurrent parotitis are the two most common causes. Multiple factors, independently or in combination, can result in acute, chronic, or recurrent acute salivary gland inflammation. Sialendoscopy has emerged as the leading diagnostic technique and intervention for pediatric sialadenitis. Sialendoscopy is a safe and effective gland-preserving treatment of pediatric sialadenitis. Investigational studies are needed to address the impact of steroid instillation, postoperative stenting, and long-term outcomes of pediatric sialendoscopy. This article presents a comprehensive review of pathophysiology, clinical presentation, diagnosis, and treatment of pediatric sialadenitis. PMID:25128215

  16. Feasibility of confocal endomicroscopy in the diagnosis of pediatric gastrointestinal disorders

    PubMed Central

    Venkatesh, Krishnappa; Cohen, Marta; Evans, Clair; Delaney, Peter; Thomas, Steven; Taylor, Christopher; Abou-Taleb, Ashraf; Kiesslich, Ralf; Thomson, Mike

    2009-01-01

    AIM: To evaluate the feasibility and utility of confocal laser endomicroscopy (CLE) in the description of normal gastrointestinal (GI) mucosa and in the diagnosis of GI disorders in children, in comparison to histology. METHODS: Forty-four patients (19 female) median age 10.9 years (range 0.7-16.6 years) with suspected or known GI pathology underwent esophago-gastro-duodenoscopy (OGD) (n = 36) and/or ileocolonoscopy (IC) (n = 31) with CLE using sodium fluorescein and acriflavine as contrast agents. Histological sections were compared with same site confocal images by two experienced pediatric and GI histopathologists and endoscopists, respectively. RESULTS: Duodenum and ileum were intubated in all but one patient undergoing OGD and IC. The median procedure time was 16.4 min (range 7-25 min) for OGD and 27.9 min (range 15-45 min) for IC. A total of 4798 confocal images were compared with 153 biopsies from the upper GI tract from 36 procedures, and 4661 confocal images were compared with 188 biopsies from the ileocolon from 31 procedures. Confocal images were comparable to conventional histology both in normal and in pathological conditions such as esophagitis, Helicobacter pylori gastritis, celiac disease, inflammatory bowel disease, colonic heterotopia, and graft versus host disease. CONCLUSION: CLE offers the prospect of targeting biopsies to abnormal mucosa, thereby increasing diagnostic yield, reducing the number of biopsies, decreasing the burden on the histopathological services, and reducing costs. PMID:19437560

  17. The Brazilian Pediatric Myelodysplastic Cooperative Group strategies: are they relevant to improve educational approach and correct diagnosis?

    PubMed

    Lopes, Luiz Fernando; Lorand-Metze, Irene; Niero-Melo, Ligia; Tone, Luiz Gonzaga; Velloso, Elvira; Campanaro, Célia Martins; Latorre, Maria do Rosário

    2002-07-01

    Brazil is a wide country with huge contrasts. Its peculiarities can highlight environmental factors that could influence the frequencies of different cancers. The standard treatment and results achieved from several different areas of the country may not be found in others. The establishment of a national cooperative group has the potential to improve outcomes. The The Brazilian Cooperative Group on Pediatric Patients with Myelodysplastic Syndrome (BCG-MDS-PED) was first organized in January 1997 as a working group of hematologists, pediatric oncologists, pediatric-hematologists, molecular biologists and other professionals in order to study pediatric (age <18 years) MDS. Six distinct subcommittees constituted with members from several universities: cytology, histopathology, clinical, cytogenetics, molecular biology and epidemiology. The goals of the BCG-MDS-PED were: (i) to offer support for diagnosis and orientation for treatment; (ii) educational support for the colleagues all over the country and (iii) research on pathogenesis and new approaches for pediatric MDS patients. There are socio-economical differences among the five regions of the country. The BCG-MDS-PED believes that it is absolutely necessary to study the clinical, cellular, molecular and epidemiological aspects of MDS, taking in account these peculiar differences among populations and regions. Since 1997, 114 pediatric cases were referred to the BCG-MDS-PED from 21 centres. Seven Brazilian states have sent cases to the group, 31 patients were referred from universities, 73 patients from pediatric oncology units (foundations ) and 10 patients came from private clinics. Some of these patients have been followed up and/or treated by the physician who referred them to the BCG-MDS-PED for confirmation of the initial diagnosis. The majority of these physicians have required orientation on diagnostic and treatment issues, as well as to complete cytogenetic and molecular studies. From these 114 patients

  18. Narcolepsy as an Immune-Mediated Disease

    PubMed Central

    De la Herrán-Arita, Alberto K.; García-García, Fabio

    2014-01-01

    Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness, cataplexy, hypnagonic hallucinations, sleep paralysis, and disturbed nocturnal sleep patterns. This disease is secondary to the specific loss of hypothalamic hypocretin (orexin)-producing neurons in the lateral hypothalamus. An autoimmune basis for the disease has long been suspected based on its strong association with the genetic marker DQB1∗06:02, and current studies greatly support this hypothesis. Narcolepsy with hypocretin deficiency is associated with human leukocyte antigen (HLA) and T cell receptor (TCR) polymorphisms, suggesting that an autoimmune process targets a peptide unique to hypocretin-producing neurons via specific HLA-peptide-TCR interactions. This concept has gained a lot of notoriety after the increase of childhood narcolepsy in 2010 following the 2009 H1N1 pandemic (pH1N1) in China and vaccination with Pandemrix, an adjuvanted H1N1 vaccine that was used in Scandinavia. The surge of narcolepsy cases subsequent to influenza A H1N1 infection and H1N1 vaccination suggests that processes such as molecular mimicry or bystander activation might be crucial for disease development. PMID:24551456

  19. Narcolepsy as an immune-mediated disease.

    PubMed

    De la Herrán-Arita, Alberto K; García-García, Fabio

    2014-01-01

    Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness, cataplexy, hypnagonic hallucinations, sleep paralysis, and disturbed nocturnal sleep patterns. This disease is secondary to the specific loss of hypothalamic hypocretin (orexin)-producing neurons in the lateral hypothalamus. An autoimmune basis for the disease has long been suspected based on its strong association with the genetic marker DQB1∗06:02, and current studies greatly support this hypothesis. Narcolepsy with hypocretin deficiency is associated with human leukocyte antigen (HLA) and T cell receptor (TCR) polymorphisms, suggesting that an autoimmune process targets a peptide unique to hypocretin-producing neurons via specific HLA-peptide-TCR interactions. This concept has gained a lot of notoriety after the increase of childhood narcolepsy in 2010 following the 2009 H1N1 pandemic (pH1N1) in China and vaccination with Pandemrix, an adjuvanted H1N1 vaccine that was used in Scandinavia. The surge of narcolepsy cases subsequent to influenza A H1N1 infection and H1N1 vaccination suggests that processes such as molecular mimicry or bystander activation might be crucial for disease development. PMID:24551456

  20. Hypertension Canada's 2016 Canadian Hypertension Education Program Guidelines for Blood Pressure Measurement, Diagnosis, and Assessment of Risk of Pediatric Hypertension.

    PubMed

    Harris, Kevin C; Benoit, Geneviève; Dionne, Janis; Feber, Janusz; Cloutier, Lyne; Zarnke, Kelly B; Padwal, Raj S; Rabi, Doreen M; Fournier, Anne

    2016-05-01

    We present the inaugural evidence-based Canadian recommendations for the measurement of blood pressure in children and the diagnosis and evaluation of pediatric hypertension. Rates of pediatric hypertension are increasing concomitant with increased rates of childhood obesity. With this, there is growing awareness of the need to measure blood pressure in children. Consequently, the present recommendations have been developed to address an important gap and improve the clinical care of children. For 2016, a total of 15 recommendations are presented. These are categorized in a fashion similar to that of the existing adult recommendations. Specifically, we present recommendations on (1) accurate measurement of blood pressure in children, (2) criteria for diagnosis of hypertension in children, (3) assessment of overall cardiovascular risk in hypertensive children, (4) routine laboratory tests for the investigation of children with hypertension, (5) ambulatory blood pressure measurement in children, and (6) the role of echocardiography. We discuss the rationale for the recommendations and present additional supporting material for the clinician, including tables with standardized techniques for blood pressure measurement and determination of normative blood pressure values for children. Hypertension Canada's Canadian Hypertension Education Program Guidelines Task Force will update the recommendations annually and develop future evidence-based recommendations to guide prevention and treatment of pediatric hypertension. PMID:27118292

  1. Narcolepsy during Childhood: An Update.

    PubMed

    Rocca, Francesca Letizia; Pizza, Fabio; Ricci, Emilia; Plazzi, Giuseppe

    2015-06-01

    Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease awareness and for several cases occurring after the H1N1 pandemic influenza or vaccination. As in adults, the occurrence of NT1 in individuals with a genetic predisposition of the immune system (e.g., human leukocyte antigen, HLA-DQB1*0602) together with the role of environmental triggers (e.g., H1N1 influenza virus, streptococcus β hemolyticus) further supports the autoimmune pathogenesis. Children with NT1 close to disease onset show a peculiar cataplexy phenotype characterized by persistent hypotonia with prominent facial involvement (cataplectic facies) and by a complex mosaic of hyperkinetic movement abnormalities that increase during emotional stimulation. This phenotype progressively vanishes along the disease course leading to the typical picture of cataplexy (i.e., muscle weakness exclusively evoked by strong emotions). This possibly explains in part the misdiagnoses and diagnostic delay. Childhood NT1 also shows behavioral abnormalities and psychiatric disorders, encompassing depressive feelings, hyperactive/aggressive behavior, up to psychotic features. The association with obesity and precocious puberty strikingly suggests that NT1 arising in prepubertal children may reflect a wide hypothalamic derangement secondary to hypocretin neuronal loss. The complexity of the childhood NT1 phenotype claims a multidisciplinary assessment and management, taking behavioral and endocrinological features into account. NT1 indeed is a lifelong disorder with a devastating impact on quality of life, especially when arising across developmental age, and targeted school programs, medicolegal and psychological supports are essential for patients care. Controlled

  2. Pediatric diabetes consortium type 1 diabetes new onset (NeOn) study: Factors associated with HbA1c levels one year after diagnosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    To identify determinants of hemoglobin A1c (HbA1c) levels 1 yr after the diagnosis of type 1 diabetes (T1D) in participants in the Pediatric Diabetes Consortium (PDC) T1D New Onset (NeOn) Study. Diabetes-specific as well as socioeconomic factors during the first year following diagnosis were analyze...

  3. Hypocretin ligand deficiency in narcolepsy: recent basic and clinical insights.

    PubMed

    Ritchie, Cayde; Okuro, Masashi; Kanbayashi, Takashi; Nishino, Seiji

    2010-05-01

    Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis. Both sporadic and familial forms exist in humans. Recently, the major pathophysiology of human narcolepsy was indicated, based on discovery, through animal study, of narcolepsy genes involved in the pathology of hypocretin/orexin ligand and its receptor. Hypocretin ligand deficiency is found in most patients with narcolepsy with cataplexy. This deficiency likely is the result of postnatal cell death of hypocretin neurons, and involvement of autoimmune mechanisms is suggested. Hypocretin deficiency also is found in symptomatic narcolepsy and excessive daytime sleepiness with neurologic conditions, including immune-mediated neurologic disorders. These findings have significant clinical relevance and promote understanding of hypocretin cell death mechanisms. Already, discoveries in humans have led to a new diagnostic test for narcolepsy. Currently, hypocretin replacement therapy has emerged as a promising therapeutic option, and experiments using gene therapy and cell transplantation are in progress. PMID:20425033

  4. Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse.

    PubMed

    Farrar, Jason E; Schuback, Heather L; Ries, Rhonda E; Wai, Daniel; Hampton, Oliver A; Trevino, Lisa R; Alonzo, Todd A; Guidry Auvil, Jaime M; Davidsen, Tanja M; Gesuwan, Patee; Hermida, Leandro; Muzny, Donna M; Dewal, Ninad; Rustagi, Navin; Lewis, Lora R; Gamis, Alan S; Wheeler, David A; Smith, Malcolm A; Gerhard, Daniela S; Meshinchi, Soheil

    2016-04-15

    The genomic and clinical information used to develop and implement therapeutic approaches for acute myelogenous leukemia (AML) originated primarily from adult patients and has been generalized to patients with pediatric AML. However, age-specific molecular alterations are becoming more evident and may signify the need to age-stratify treatment regimens. The NCI/COG TARGET-AML initiative used whole exome capture sequencing (WXS) to interrogate the genomic landscape of matched trios representing specimens collected upon diagnosis, remission, and relapse from 20 cases of de novo childhood AML. One hundred forty-five somatic variants at diagnosis (median 6 mutations/patient) and 149 variants at relapse (median 6.5 mutations) were identified and verified by orthogonal methodologies. Recurrent somatic variants [in (greater than or equal to) 2 patients] were identified for 10 genes (FLT3, NRAS, PTPN11, WT1, TET2, DHX15, DHX30, KIT, ETV6, KRAS), with variable persistence at relapse. The variant allele fraction (VAF), used to measure the prevalence of somatic mutations, varied widely at diagnosis. Mutations that persisted from diagnosis to relapse had a significantly higher diagnostic VAF compared with those that resolved at relapse (median VAF 0.43 vs. 0.24, P < 0.001). Further analysis revealed that 90% of the diagnostic variants with VAF >0.4 persisted to relapse compared with 28% with VAF <0.2 (P < 0.001). This study demonstrates significant variability in the mutational profile and clonal evolution of pediatric AML from diagnosis to relapse. Furthermore, mutations with high VAF at diagnosis, representing variants shared across a leukemic clonal structure, may constrain the genomic landscape at relapse and help to define key pathways for therapeutic targeting. Cancer Res; 76(8); 2197-205. ©2016 AACR. PMID:26941285

  5. Hypocretin/orexin and narcolepsy: new basic and clinical insights.

    PubMed

    Nishino, S; Okuro, M; Kotorii, N; Anegawa, E; Ishimaru, Y; Matsumura, M; Kanbayashi, T

    2010-03-01

    Narcolepsy is a chronic sleep disorder, characterized by excessive daytime sleepiness (EDS), cataplexy, sleep paralysis and hypnagogic hallucinations. Both sporadic (95%) and familial (5%) forms of narcolepsy exist in humans. The major pathophysiology of human narcolepsy has been recently discovered based on the discovery of narcolepsy genes in animals; the genes involved in the pathology of the hypocretin/orexin ligand and its receptor. Mutations in hypocretin-related genes are rare in humans, but hypocretin ligand deficiency is found in a large majority of narcolepsy with cataplexy. Hypocretin ligand deficiency in human narcolepsy is probably due to the post-natal cell death of hypocretin neurones. Although a close association between human leucocyte antigen (HLA) and human narcolepsy with cataplexy suggests an involvement of autoimmune mechanisms, this has not yet been proved. Hypocretin deficiency is also found in symptomatic cases of narcolepsy and EDS with various neurological conditions, including immune-mediated neurological disorders, such as Guillain-Barre syndrome, MA2-positive paraneoplastic syndrome and neuromyelitis optica (NMO)-related disorder. The findings in symptomatic narcoleptic cases may have significant clinical relevance to the understanding of the mechanisms of hypocretin cell death and choice of treatment option. The discoveries in human cases lead to the establishment of the new diagnostic test of narcolepsy (i.e. low cerebrospinal fluid hypocretin-1 levels for 'narcolepsy with cataplexy' and 'narcolepsy due to medical condition'). As a large majority of human narcolepsy patients are ligand deficient, hypocretin replacement therapy may be a promising new therapeutic option, and animal experiments using gene therapy and cell transplantations are in progress. PMID:19555382

  6. Status cataplecticus as initial presentation of late onset narcolepsy.

    PubMed

    Panda, Samhita

    2014-02-15

    Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus. PMID:24533005

  7. The European Narcolepsy Network (EU-NN) database.

    PubMed

    Khatami, Ramin; Luca, Gianina; Baumann, Christian R; Bassetti, Claudio L; Bruni, Oliviero; Canellas, Francesca; Dauvilliers, Yves; Del Rio-Villegas, Rafael; Feketeova, Eva; Ferri, Raffaele; Geisler, Peter; Högl, Birgit; Jennum, Poul; Kornum, Birgitte R; Lecendreux, Michel; Martins-da-Silva, Antonio; Mathis, Johannes; Mayer, Geert; Paiva, Teresa; Partinen, Markku; Peraita-Adrados, Rosa; Plazzi, Guiseppe; Santamaria, Joan; Sonka, Karel; Riha, Renata; Tafti, Mehdi; Wierzbicka, Aleksandra; Young, Peter; Lammers, Gert Jan; Overeem, Sebastiaan

    2016-06-01

    Narcolepsy with cataplexy is a rare disease with an estimated prevalence of 0.02% in European populations. Narcolepsy shares many features of rare disorders, in particular the lack of awareness of the disease with serious consequences for healthcare supply. Similar to other rare diseases, only a few European countries have registered narcolepsy cases in databases of the International Classification of Diseases or in registries of the European health authorities. A promising approach to identify disease-specific adverse health effects and needs in healthcare delivery in the field of rare diseases is to establish a distributed expert network. A first and important step is to create a database that allows collection, storage and dissemination of data on narcolepsy in a comprehensive and systematic way. Here, the first prospective web-based European narcolepsy database hosted by the European Narcolepsy Network is introduced. The database structure, standardization of data acquisition and quality control procedures are described, and an overview provided of the first 1079 patients from 18 European specialized centres. Due to its standardization this continuously increasing data pool is most promising to provide a better insight into many unsolved aspects of narcolepsy and related disorders, including clear phenotype characterization of subtypes of narcolepsy, more precise epidemiological data and knowledge on the natural history of narcolepsy, expectations about treatment effects, identification of post-marketing medication side-effects, and will contribute to improve clinical trial designs and provide facilities to further develop phase III trials. PMID:26809504

  8. Clinical evaluation of a 2K x 2K workstation for primary diagnosis in pediatric radiology

    NASA Astrophysics Data System (ADS)

    Razavi, Mahmood; Sayre, James W.; Simons, Margaret A.; Hamedaninia, Azar; Boechat, Maria I.; Hall, Theodore R.; Kangarloo, Hooshang; Taira, Ricky K.; Chuang, Keh-Shih; Kashifian, Payam

    1991-07-01

    Preliminary results of a large-scale ROC study evaluating the diagnostic performance of digital hardcopy film and 2K X 2K softcopy display for pediatric chest radiographs are presented. The pediatric disease categories studied were pneumothorax, linear atelectasis, air bronchograms, and interstitial disease. Digital images were obtained directly from a computed radiography system. Results from the readings of 239 chest radiographs by 4 radiologists show no significant difference between viewing images on film and softcopy display for the disease categories pneumothorax and air bronchograms. A slight performance edge for softcopy was seen for the disease categories of interstitial disease and linear atelectasis.

  9. EIF3G is associated with narcolepsy across ethnicities.

    PubMed

    Holm, Anja; Lin, Ling; Faraco, Juliette; Mostafavi, Sara; Battle, Alexis; Zhu, Xiaowei; Levinson, Douglas F; Han, Fang; Gammeltoft, Steen; Jennum, Poul; Mignot, Emmanuel; Kornum, Birgitte R

    2015-11-01

    Type 1 narcolepsy, an autoimmune disease affecting hypocretin (orexin) neurons, is strongly associated with HLA-DQB1*06:02. Among polymorphisms associated with the disease is single-nucleotide polymorphism rs2305795 (c.*638G>A) located within the P2RY11 gene. P2RY11 is in a region of synteny conserved in mammals and zebrafish containing PPAN, EIF3G and DNMT1 (DNA methyltransferase 1). As mutations in DNMT1 cause a rare dominant form of narcolepsy in association with deafness, cerebellar ataxia and dementia, we questioned whether the association with P2RY11 in sporadic narcolepsy could be secondary to linkage disequilibrium with DNMT1. Based on genome-wide association data from two cohorts of European and Chinese ancestry, we found that the narcolepsy association signal drops sharply between P2RY11/EIF3G and DNMT1, suggesting that the association with narcolepsy does not extend into the DNMT1 gene region. Interestingly, using transethnic mapping, we identified a novel single-nucleotide polymorphism rs3826784 (c.596-260A>G) in the EIF3G gene also associated with narcolepsy. The disease-associated allele increases EIF3G mRNA expression. EIF3G is located in the narcolepsy risk locus and EIF3G expression correlates with PPAN and P2RY11 expression. This suggests shared regulatory mechanisms that might be affected by the polymorphism and are of relevance to narcolepsy. PMID:25669430

  10. Pediatric Diabetes Consortium T1D New Onset (NeOn) Study: Clinical Outcomes during the First Year following Diagnosis

    PubMed Central

    Cengiz, Eda; Connor, Crystal G.; Ruedy, Katrina J.; Beck, Roy W.; Kollman, Craig; Klingensmith, Georgeanna J.; Tamborlane, William V.; Lee, Joyce M.; Haller, Michael J.

    2013-01-01

    Objective There have been few prospective, multicenter studies investigating the natural history of type 1 diabetes (T1D) from the time of diagnosis. The objective of this report from the Pediatric Diabetes Consortium (PDC) T1D New Onset (NeOn) study was to assess the natural history and clinical outcomes in children during the first year after diagnosis of T1D. Research Design and Methods Clinical measures from the first year following diagnosis were analyzed for 857 participants (mean age 9.1 years, 51% female, 66% non-Hispanic White) not participating in an intervention study who had a HbA1c result at 12 months. Results Mean HbA1c ± SD was 102 ± 25 mmol/mol (11.4 ± 2.3%) at diagnosis, 55 ± 12 mmol/mol (7.2 ± 1.1%) at 3 months, 56 ± 15 mmol/mol (7.3 ± 1.3%) at 6 months and 62 ± 16 mmol/mol (7.8 ± 1.5%) at 12 months from diagnosis. A severe hypoglycemic (SH) event occurred in 31 (4%) participants (44 events, 5.2 events per 100 person-years). Diabetic ketoacidosis (DKA) not including diagnosis occurred in 10 (1%) participants (13 events, 1.5 events per 100 person-years). Conclusions After onset of T1D, mean HbA1c reaches its nadir at 3–6 months with a gradual increase through 12 months. SH and DKA are uncommon but still occur during the first year with T1D. Data from large cohorts, such as the PDC T1D NeOn study, provide important insights into the course of T1D during the first year following diagnosis, which will help to inform the development of models to target future interventions. PMID:23944865

  11. Narcolepsy goes to school: the three Rs for school nurses.

    PubMed

    Gow, Monica

    2014-03-01

    The sleep disorder narcolepsy most often first appears in the teen years. It can dash the dreams of optimistic, intelligent students. It can make some students the target of nasty jokes and bullying, leaving them depressed and socially isolated. It can challenge children's self-esteem, and lowered self-esteem may last a lifetime. Typically, children with narcolepsy gain weight and have no interest in participating in anything. Many constantly feel extreme tiredness, and they may experience cataplexy. School nurses and teachers can help if they know the symptoms and practice the 3 Rs of narcolepsy: Recognize the symptoms of narcolepsy; Respect that narcolepsy is a lifelong, serious sleep disorder that needs treatment; and Refer students who exhibit symptoms to medical professionals. The 3 Rs will help students living with this lifelong disorder to get a fair shake in life's academic, social, and career arenas. PMID:24707660

  12. Infancy narcolepsy: Streptococcus infection as a causal factor☆

    PubMed Central

    Lopes, Danielle Antunes; Coelho, Fernando Morgadinho Santos; Pradella-Hallinan, Marcia; de Araújo Melo, Maria Helena; Tufik, Sergio

    2015-01-01

    Streptococcal infections are suggested as a risk factor for narcolepsy. This hypothesis is supported by the presence of anti-streptolysin antibodies in 65% of patients with narcolepsy. These infections are associated with the activation of general immunity and concomitant increased permeability of blood–brain barrier after T cell activation during inflammation and fever. It has also been shown a significant association between birth order and narcolepsy in genetically susceptible patients, with positivity for HLA-DQB1⁎0602 allele. Watson and colleagues showed a significant association between birth order and narcolepsy in genetically susceptible patients, with positivity for HLA-DQB1⁎0602 allele. In that study, the disease was predominant in young children cases compared to controls. We report here the case of a child diagnosed with narcolepsy with cataplexy, positivity for the HLA-DQB1⁎0602 and previous history of streptococcal infection. PMID:26483943

  13. Dream-disturbed sleep in insomnia and narcolepsy.

    PubMed

    Lee, J H; Bliwise, D L; Lebret-Bories, E; Guilleminault, C; Dement, W C

    1993-05-01

    Both patients with narcolepsy and insomnia frequently present clinically with nocturnal sleep disrupted by disturbing dreams. Polysomnographic correlates of these reports are unclear. In this study, 24 patients with psychophysiological insomnia and 16 patients with narcolepsy were compared on selected polysomnographic and self-reported typical dream characteristics. As a group, patients with narcolepsy showed more frightening, recurrent dreams and shorter rapid eye movement (REM) segments when compared with patients with insomnia. However, within the narcolepsy group, there were few correlations between typical dream characteristics and any measure of REM segment length or REM density. In the insomnia group, shorter REM segments and higher REM density were related to typically more vivid, frightening, and disrupted dreaming. We speculate that the mechanisms of disturbed dream recall may be different in insomnia and narcolepsy. PMID:8501449

  14. Status Cataplecticus as Initial Presentation of Late Onset Narcolepsy

    PubMed Central

    Panda, Samhita

    2014-01-01

    Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus. Citation: Panda S. Status cataplecticus as initial presentation of late onset narcolepsy. J Clin Sleep Med 2014;10(2):207-209. PMID:24533005

  15. Primary liver tumors in pediatric patients: proper imaging technique for diagnosis and staging.

    PubMed

    Rozell, Joseph M; Catanzano, Tara; Polansky, Stanley M; Rakita, Dmitry; Fox, Lindsay

    2014-08-01

    Liver tumors in children are rare and comprise a diverse set of both benign and malignant lesions, most of which are not clinically detected until they are large and often difficult to resect. Technological advances in diagnostic imaging have greatly influenced the surgical planning of these lesions and ultimately the clinical outcome. The intent of this article is to present an imaging algorithm for the effective and efficient workup of liver tumors in pediatric patients. This includes the appropriate timing and use of various imaging modalities, such as conventional radiographs, ultrasound, computed tomography, and magnetic resonance imaging. This article also addresses the use of sedation, intravenous contrast agents, and the benefits and limitations of specific imaging modalities. An overview of the radiologic and pathologic findings in common liver lesions in pediatric patients, as well as individual case examples demonstrating the use of the proposed workup algorithm, is provided. PMID:25129215

  16. The value of 18F-FDG PET in pediatric patients with post-transplant lymphoproliferative disorder at initial diagnosis.

    PubMed

    Vali, R; Punnett, A; Bajno, L; Moineddin, R; Shammas, A

    2015-12-01

    PTLD is a serious complication of both solid organ and BMT. This study assessed whether (18) F-FDG PET, when added to CT scan, had additional value in the initial evaluation of PTLD in pediatric patients and whether PET/CT at baseline can reliably guide biopsy. This retrospective study evaluated 34 consecutive pediatric patients (14 female), aged 3.5-17.0 yr (mean age: 9.9 yr, s.d.: 4.9 yr), who had undergone (18) F-FDG PET/CT from May 2007 to December 2014 at initial diagnosis of PTLD following heart (n = 13), lung (n = 8), kidney (n = 4), liver (n = 3), liver and bowel (n = 3), and bone marrow (n = 3) transplantation. PTLD was diagnosed histopathologically in 33 patients and was based on clinical findings, elevated EBV, and imaging and follow-up results in one patient. On lesion-based analysis, (18) F-FDG PET showed more lesions than conventional CT scan (168 vs. 134), but CT revealed 22 lesions negative on PET. On per patient analysis, PET detected more lesions in 13 patients, CT identified more abnormalities in seven, and both showed the same number of lesions in 14. Adding (18) F-FDG PET to CT scans upstaged the disease in seven patients (20.5%). A combination of (18) F-FDG PET and CT was also useful in guiding biopsy, being positive in 36 of 39 samples (92.3%). These findings indicated that (18) F-FDG PET and CT are complementary at initial staging of pediatric PTLD and that (18) F-FDG PET/CT scanning can guide biopsies. PMID:26515450

  17. Mechanism of action of narcolepsy medications.

    PubMed

    Gowda, Chandan R; Lundt, Leslie P

    2014-12-01

    The medications used to treat narcolepsy are targeted toward alleviating symptoms such as excessive sleepiness and cataplexy. The cause of this neurological sleep disorder is still not completely clear, though a destruction of hypocretin/orexin neurons has been implicated. The destruction of these neurons is linked to inactivity of neurotransmitters including histamine, norepinephrine, acetylcholine, and serotonin, causing a disturbance in the sleep/wake cycles of narcoleptic patients. Stimulants and MAOIs have traditionally been used to counteract excessive daytime sleepiness and sleep attacks by inhibiting the breakdown of catecholamines. Newer drugs, called wake-promoting agents, have recently become first-line agents due to their better side-effect profile, efficacy, and lesser potential for abuse. These agents similarly inhibit reuptake of dopamine, but have a novel mechanism of action, as they have been found to increase neuronal activity in the tuberomamillary nucleus and in orexin neurons. Sodium oxybate, a sodium salt of gamma-hydroxybutyrate (GHB), is another class that is used to treat many symptoms of narcolepsy, and is the only U.S. Food and Drug Administration (FDA)-approved medication for cataplexy. It has a different mechanism of action than either stimulants or wake-promoting agents, as it binds to its own unique receptor. Antidepressants, like selective serotonin re-uptake inhibitors (SSRIs) and tricyclic antidepressants (TCAs), have also been used, as similar to stimulants, they inhibit reuptake of specific catecholamines. In this article, we seek to review the mechanisms behind these classes of drugs in relation to the proposed pathophysiology of narcolepsy. Appropriate clinical strategies will be discussed, including specific combinations of medications that have been shown to be effective. PMID:25403789

  18. The value of computed tomography in the diagnosis and management of pediatric mediastinal abnormalities

    SciTech Connect

    Siegel, M.J.; Sagel, S.S.; Reed, K.

    1982-01-01

    The utility of computed tomography (CT) in evaluation of mediastinal abnormalities was assessed in 23 pediatric patients. By comparison with standard chest radiography, CT provided additional diagnostic information in 82% of the patients. In 65%, the CT findings contributed to a change in clinical management. CT was most useful in documenting a benign process (near-water-density mass or a normal vascular or soft-tissue structure) and in demonstrating the full extent of a malignant tumor.

  19. Potential benefit of the CT adaptive statistical iterative reconstruction method for pediatric cardiac diagnosis

    NASA Astrophysics Data System (ADS)

    Miéville, Frédéric A.; Ayestaran, Paul; Argaud, Christophe; Rizzo, Elena; Ou, Phalla; Brunelle, Francis; Gudinchet, François; Bochud, François; Verdun, Francis R.

    2010-04-01

    Adaptive Statistical Iterative Reconstruction (ASIR) is a new imaging reconstruction technique recently introduced by General Electric (GE). This technique, when combined with a conventional filtered back-projection (FBP) approach, is able to improve the image noise reduction. To quantify the benefits provided on the image quality and the dose reduction by the ASIR method with respect to the pure FBP one, the standard deviation (SD), the modulation transfer function (MTF), the noise power spectrum (NPS), the image uniformity and the noise homogeneity were examined. Measurements were performed on a control quality phantom when varying the CT dose index (CTDIvol) and the reconstruction kernels. A 64-MDCT was employed and raw data were reconstructed with different percentages of ASIR on a CT console dedicated for ASIR reconstruction. Three radiologists also assessed a cardiac pediatric exam reconstructed with different ASIR percentages using the visual grading analysis (VGA) method. For the standard, soft and bone reconstruction kernels, the SD is reduced when the ASIR percentage increases up to 100% with a higher benefit for low CTDIvol. MTF medium frequencies were slightly enhanced and modifications of the NPS shape curve were observed. However for the pediatric cardiac CT exam, VGA scores indicate an upper limit of the ASIR benefit. 40% of ASIR was observed as the best trade-off between noise reduction and clinical realism of organ images. Using phantom results, 40% of ASIR corresponded to an estimated dose reduction of 30% under pediatric cardiac protocol conditions. In spite of this discrepancy between phantom and clinical results, the ASIR method is as an important option when considering the reduction of radiation dose, especially for pediatric patients.

  20. Is the Diagnosis of Physical Abuse Changed when Child Protective Services Consults a Child Abuse Pediatrics Subspecialty Group as a Second Opinion?

    ERIC Educational Resources Information Center

    Anderst, James; Kellogg, Nancy; Jung, Inkyung

    2009-01-01

    Objectives: To characterize the changes regarding the diagnosis of physical abuse provided to Child Protective Services (CPS) when CPS asks a Child Abuse Pediatrics (CAP) specialty group for a second opinion and works in concert with that CAP group. Methods: Subjects were reported to CPS for suspected physical abuse and were first evaluated by a…

  1. Early results of pediatric appendicitis after adoption of diagnosis-related group-based payment system in South Korea

    PubMed Central

    Moon, Suk-Bae

    2015-01-01

    Purpose As an alternative to the existing fee-for-service (FFS) system, a diagnosis-related group (DRG)-based payment system has been suggested. The aim of this study was to investigate the early results of pediatric appendicitis treatment under the DRG system, focusing on health care expenditure and quality of health care services. Patients and methods The medical records of 60 patients, 30 patients before (FFS group), and 30 patients after adoption of the DRG system (DRG), were reviewed retrospectively. Results Mean hospital stay was shortened, but the complication and readmission rates did not worsen in the DRG. Overall health care expenditure and self-payment decreased from Korean Won (KRW) 2,499,935 and KRW 985,540, respectively, in the FFS group to KRW 2,386,552 and KRW 492,920, respectively, in the DRG. The insurer’s payment increased from KRW 1,514,395 in the FFS group to KRW 1,893,632 in the DRG. For patients in the DRG, calculation by the DRG system yielded greater overall expenditure (KRW 2,020,209 vs KRW 2,386,552) but lower self-payment (KRW 577,803 vs KRW 492,920) than calculation by the FFS system. Conclusion The DRG system worked well in pediatric patients with acute appendicitis in terms of cost-effectiveness over the short term. The gradual burden on the national health insurance fund should be taken into consideration. PMID:26648734

  2. NASPGHAN Clinical Report: Surveillance, Diagnosis, and Prevention of Infectious Diseases in Pediatric Patients With Inflammatory Bowel Disease Receiving Tumor Necrosis Factor-α Inhibitors.

    PubMed

    Ardura, Monica I; Toussi, Sima S; Siegel, Jane D; Lu, Ying; Bousvaros, Athos; Crandall, Wallace

    2016-07-01

    Children and adolescents with inflammatory bowel disease (IBD) receiving therapy with tumor necrosis factor α inhibitors (anti-TNFα) pose a unique challenge to health care providers in regard to the associated risk of infection. Published experience in adult populations with distinct autoinflammatory and autoimmune diseases treated with anti-TNFα therapies demonstrates an increased risk of serious infections with intracellular bacteria, mycobacteria, fungi, and some viruses; however, there is a paucity of robust pediatric data. With a rising incidence of pediatric IBD and increasing use of biologic therapies, heightened knowledge and awareness of infections in this population is important for primary care pediatricians, pediatric gastroenterologists, and infectious disease (ID) physicians. This clinical report is the result of a consensus review performed by pediatric ID and gastroenterology physicians detailing relevant published literature regarding infections in pediatric patients with IBD receiving anti-TNFα therapies. The objective of this document is to provide comprehensive information for prevention, surveillance, and diagnosis of infections based on current knowledge, until additional pediatric data are available to inform evidence-based recommendations. PMID:27027903

  3. Focused Cardiac Ultrasound Diagnosis of Cor Triatriatum Sinistrum in Pediatric Cardiac Arrest

    PubMed Central

    Kehrl, Thompson; Dagen, Callie T.; Becker, Brent A.

    2015-01-01

    Cardiac arrest in the adolescent population secondary to congenital heart disease (CHD) is rare. Focused cardiac ultrasound (FoCUS) in the emergency department (ED) can yield important clinical information, aid in resuscitative efforts during cardiac arrest and is commonly integrated into the evaluation of patients with pulseless electrical activity (PEA). We report a case of pediatric cardiac arrest in which FoCUS was used to diagnose a critical CHD known as cor triatriatum sinistrum as the likely cause for PEA cardiac arrest and help direct ED resuscitation. PMID:26587102

  4. The utility of IgM, CD21, HGAL and LMO2 in the diagnosis of pediatric follicular lymphoma.

    PubMed

    Karnik, Tejashree; Ozawa, Michael G; Lefterova, Martina; Luna-Fineman, Sandra; Alvarez, Elysia; Link, Michael; Zehnder, James L; Arber, Daniel A; Ohgami, Robert S

    2015-04-01

    Pediatric follicular lymphoma (pFL) is a rare neoplasm with features differing from follicular lymphoma arising in adults. Here, we describe a rare case of pFL that showed morphologic features partially overlapping with progressive transformation of germinal centers and reactive follicular hyperplasia. As typical of pFL, neoplastic B cells within follicles did not express B-cell leukemia/lymphoma 2 (BCL2). However, this case showed additional distinctive abnormal findings, which contributed to the diagnosis: (1) diffuse and uniform staining of immunoglobulin M (IgM) on cells within and outside of follicles, (2) abnormally dim expression of CD21 on follicular dendritic cells, and (3) expression of human germinal center-associated lymphoma (HGAL) and LIM domain only 2 (LMO2) on B cells in interfollicular and follicular areas. This case demonstrates the utility of these abnormal features, which can be seen in adult- or usual-type follicular lymphoma, in the diagnosis of pFL. Further studies are necessary to evaluate the significance of these findings in other cases of pFL. PMID:25701230

  5. Cognitive behavioral treatment for narcolepsy: can it complement pharmacotherapy?

    PubMed Central

    Marín Agudelo, Hernán Andrés; Jiménez Correa, Ulises; Carlos Sierra, Juan; Pandi-Perumal, Seithikurippu R.; Schenck, Carlos H.

    2014-01-01

    Sleep medicine in general and psychology in particular have recently developed cognitive behavioral treatment for narcolepsy (CBT-N). Despite a growing interest in this topic, most studies since 2007 have reviewed CBT applications for other sleep disorders. Currently, 6 reviews have been published on narcolepsy, with an expert consensus being reached that CBT represented an important adjunctive treatment for the disease. The current paper reviews the need for CBT applications for narcolepsy by generalizing the application of multicomponent treatments and performing studies that extrapolate the results obtained from multicenter studies. Nineteen studies were found in which the need-for-treatment guidelines identified the use of CBT for narcolepsy. Three additional studies were identified that evaluated the effectiveness of cognitive behavioral measures and multicomponent treatments for which treatment protocols have been proposed. PMID:26483898

  6. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infection (PANDAS): a Controversial Diagnosis.

    PubMed

    de Oliveira, Sheila Knupp Feitosa; Pelajo, Christina Feitosa

    2010-03-01

    Despite more than a decade of studying pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS), it is still not possible to confirm its existence and whether it is a poststreptococcal autoimmune disorder. Many controversies remain: the diagnostic criteria have not been validated, evidence of autoimmunity remains inconclusive, evidence of a genetic predisposition is weak, and streptococcal infections are common in childhood and could represent only a trigger of exacerbations of tics and obsessive-compulsive disorder. Patients who fit the PANDAS criteria appear to represent a subgroup of children with chronic tic disorder and/or obsessive-compulsive disorder who may experience symptom exacerbations after group A β-hemolytic streptococci infections; however, those infections are not the sole or even the most common antecedent of exacerbations. There is not enough evidence to support PANDAS as a unique clinical entity. PMID:21308506

  7. miR expression profiling at diagnosis predicts relapse in pediatric precursor B-cell acute lymphoblastic leukemia.

    PubMed

    Avigad, Smadar; Verly, Iedan R N; Lebel, Asaf; Kordi, Oshrit; Shichrur, Keren; Ohali, Anat; Hameiri-Grossman, Michal; Kaspers, Gertjan J L; Cloos, Jacqueline; Fronkova, Eva; Trka, Jan; Luria, Drorit; Kodman, Yona; Mirsky, Hadar; Gaash, Dafna; Jeison, Marta; Avrahami, Galia; Elitzur, Sarah; Gilad, Gil; Stark, Batia; Yaniv, Isaac

    2016-04-01

    Our aim was to identify miRNAs that can predict risk of relapse in pediatric patients with acute lymphoblastic leukemia (ALL). Following high-throughput miRNA expression analysis (48 samples), five miRs were selected for further confirmation performed by real time quantitative PCR on a cohort of precursor B-cell ALL patients (n = 138). The results were correlated with clinical parameters and outcome. Low expression of miR-151-5p, and miR-451, and high expression of miR-1290 or a combination of all three predicted inferior relapse free survival (P = 0.007, 0.042, 0.025, and <0.0001, respectively). Cox regression analysis identified aberrant expression of the three miRs as an independent prognostic marker with a 10.5-fold increased risk of relapse (P = 0.041) in PCR-MRD non-high risk patients. Furthermore, following exclusion of patients harboring IKZF1 deletion, the aberrant expression of all three miRs could identify patients with a 24.5-fold increased risk to relapse (P < 0.0001). The prognostic relevance of the three miRNAs was evaluated in a non-BFM treated precursor B-cell ALL cohort (n = 33). A significant correlation between an aberrant expression of at least one of the three miRs and poor outcome was maintained (P < 0.0001). Our results identify an expression profile of miR-151-5p, miR-451, and miR-1290 as a novel biomarker for outcome in pediatric precursor B-cell ALL patients, regardless of treatment protocol. The use of these markers may lead to improved risk stratification at diagnosis and allow early therapeutic interventions in an attempt to improve survival of high risk patients. PMID:26684414

  8. Feasibility study of the diagnosis and monitoring of cystic fibrosis in pediatric patients using stationary digital chest tomosynthesis

    NASA Astrophysics Data System (ADS)

    Potuzko, Marci; Shan, Jing; Pearce, Caleb; Lee, Yueh Z.; Lu, Jianping; Zhou, Otto

    2015-03-01

    Digital chest tomosynthesis (DCT) is a 3D imaging modality which has been shown to approach the diagnostic capability of CT, but uses only one-tenth the radiation dose of CT. One limitation of current commercial DCT is the mechanical motion of the x-ray source which prolongs image acquisition time and introduces motion blurring in images. By using a carbon nanotube (CNT) x-ray source array, we have developed a stationary digital chest tomosynthesis (s- DCT) system which can acquire tomosynthesis images without mechanical motion, thus enhancing the image quality. The low dose and high quality 3D image makes the s-DCT system a viable imaging tool for monitoring cystic fibrosis (CF) patients. The low dose is especially important in pediatric patients who are both more radiosensitive and have a longer lifespan for radiation symptoms to develop. The purpose of this research is to evaluate the feasibility of using s-DCT as a faster, lower dose means for diagnosis and monitoring of CF in pediatric patients. We have created an imaging phantom by injecting a gelatinous mucus substitute into porcine lungs and imaging the lungs from within an anthropomorphic hollow chest phantom in order to mimic the human conditions of a CF patient in the laboratory setting. We have found that our s-DCT images show evidence of mucus plugging in the lungs and provide a clear picture of the airways in the lung, allowing for the possibility of using s- DCT to supplement or replace CT as the imaging modality for CF patients.

  9. Sleepiness that cannot be overcome: narcolepsy and cataplexy.

    PubMed

    Han, Fang

    2012-11-01

    Narcolepsy-cataplexy syndrome is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. It is strongly associated with the genetic marker, human leucocyte antigen (HLA) DQB1*06:02. A deficit in the endogenous hypocretin/orexin system due to neuronal degeneration in the lateral hypothalamus, induced by an autoimmune-mediated process, is the primary pathophysiology associated with the human disease. The important finding of an association with hypocretin genes in animal models of narcolepsy has led to the establishment of cerebrospinal fluid hypocretin measurements as a new diagnostic test for human narcolepsy. This is a fascinating story of translation of basic science research into clinical practice in sleep medicine during the past decade. Recent advances have shed light on the associations between respiratory medicine and narcolepsy-cataplexy research. The first is that upper airway infections, including H1N1 and/or streptococcal infections, may initiate or reactivate an immune response that leads to loss of hypocretin-secreting cells and narcolepsy in genetically susceptible individuals. The second is that an increased incidence of sleep disordered breathing among narcoleptic subjects may relate to the impairment of central control of breathing, linked to hypocretin deficiency or carriage of HLADQB1*06:02, in animals and human subjects with narcolepsy, respectively, indicating neural dysfunction in an area where respiratory and sleep-wake systems are closely interrelated. PMID:22471619

  10. Systematic tracking of dysregulated modules identifies disrupted pathways in narcolepsy

    PubMed Central

    Liu, Zhenhua; Zhao, Jiali; Tan, Yinyin; Tang, Minglu; Li, Guanzhen

    2015-01-01

    Objective: The objective of this work is to identify disrupted pathways in narcolepsy according to systematically tracking the dysregulated modules of reweighted Protein-Protein Interaction (PPI) networks. Here, we performed systematic identification and comparison of modules across normal and narcolepsy conditions by integrating PPI and gene-expression data. Methods: Firstly, normal and narcolepsy PPI network were inferred and reweighted based on Pearson correlation coefficient (PCC). Then, modules in PPI network were explored by clique-merging algorithm and we identified altered modules using a maximum weight bipartite matching and in non-increasing order. Finally, pathways enrichment analyses of genes in altered modules were carried out based on Expression Analysis Systematic Explored (EASE) test to illuminate the biological pathways in narcolepsy. Results: Our analyses revealed that 235 altered modules were identified by comparing modules in normal and narcolepsy PPI network. Pathway functional enrichment analysis of disrupted module genes showed 59 disrupted pathways within threshold P < 0.001. The most significant five disrupted pathways were: oxidative phosphorylation, T cell receptor signaling pathway, cell cycle, Alzheimer’s disease and focal adhesion. Conclusions: We successfully identified disrupted pathways and these pathways might be potential biological processes for treatment and etiology mechanism in narcolepsy. PMID:26309600

  11. Challenge in preoperative diagnosis of retroperitoneal mucinous cyst in a pediatric patient

    PubMed Central

    Zhang, Deying; Zhang, Yan; Liu, Xing; Zhu, Jin; Feng, Chuan; Yang, Chunjiang; Wu, Shengde; Liu, Junhong; Hua, Yi; Liu, Feng; Zhang, Nan; Zhang, Yuanyuan; He, Dawei; Lin, Tao; Wei, Guanghui

    2015-01-01

    Mucinous cystic lesions of the retroperitoneum can be either neoplastic or non-neoplastic. It is very important to make a correct diagnosis, or at least, an accurate classification, to proceed with an optimal treatment strategy. In spite of advantage of ultrasound and X-ray image examinations, it is still a challenge to make differential diagnosis of retroperitoneal mucinous cyst from gangliocytoma because both tumors have similar density under the image assessment. In this article, we reported an asymptomatic 8-year-old boy with multiple bronchogenic cysts in both lung and adrenal area on the left side, the latter was considered to be a gangliocytoma preoperatively by ultrasound and computed tomography, but confirmed as bronchogenic cyst by histopathology post laparoscopic resection. The differential diagnosis, imaging features and treatment of bronchogenic cyst are discussed and the relative literatures are reviewed. PMID:26770607

  12. Factors influencing time to diagnosis and treatment among pediatric oncology patients in Kenya.

    PubMed

    Njuguna, F; Martijn, H; Langat, S; Musimbi, J; Muliro, H; Skiles, J; Vik, T; Sitaresmi, M N; van de Ven, P M; Kaspers, G J L; Mostert, S

    2016-04-01

    Early diagnosis and start of treatment are fundamental goals in cancer care. This study determines the time lag and the factors that influence the time to diagnosis and start of treatment. Study participants were parents of childhood cancer patients diagnosed between August 2013 and July 2014 in a hospital in Kenya. Patient, physician, diagnosis, treatment, health care system, and total delay were explored using a questionnaire. Demographic and medical data were collected from the patients' medical records. Parents of 99 childhood cancer patients were interviewed (response rate: 80%). Median total delay was 102 (9-1021) days. Median patient delay (4 days) was significantly shorter than health care system delay (median 87 days; P < .001). Diagnosis delay (median 94 days) was significantly longer than treatment delay (median 6 days; P < .001). days. Lack of health insurance at diagnosis and use of alternative medicine before attending conventional health services were associated with a significantly longer patient delay (P = .041 and P = .017, respectively). The type of cancer had a significant effect on treatment delay (P = .020). The type of health facility attended affected only patient delay (P = .03). Gender, age at diagnosis, stage of disease, parents' education level or income, and distance from hospital did not have a significant effect on the length of any type of delay. Training on childhood cancer should be included in the curricula for medical training institutes. In-service workshops should be held for the health workers already working. Families must be obligated to get health insurance. Families should be encourage to attend conventional health facilities and informed on symptoms of cancer through mass media. PMID:27184775

  13. Is narcolepsy a classical autoimmune disease?

    PubMed

    Arango, María-Teresa; Kivity, Shaye; Shoenfeld, Yehuda

    2015-02-01

    Narcolepsy is a neurological disorder characterized by excessive daytime sleepiness. It is caused by the loss of orexin producing neurons in the lateral hypothalamus. Current evidences suggest an autoimmune mediated process causing the specific loss of orexin neurons. The high association of the disease with the HLA DQB1*06:02, as well as the link with environmental factors and are important clues supporting this theory. Recently, the association between the occurrence of the disease and vaccination campaign after the 2009 H1N1 pandemic highlighted the importance to increase the knowledge in the Pandora box of the vaccines. This review discusses the last finding regarding the pathogenesis of the disease and its relationship with the H1N1 vaccines. PMID:25447795

  14. A case of cataplexy without narcolepsy

    PubMed Central

    Tun, Shwe Zin

    2016-01-01

    A 6-year-old girl has episodic altered behaviour and collapses started. Earlier spells were associated with dizziness. During the first event, she looked blank while playing and almost fell to the ground. She was hot to the touch, looking pale. Her eyes were seen “rolling” with the events. There was no history of excessive sleepiness or symptoms of underlying sleep disorder. She had an ambulatory electroencephalography (EEG) and multiple sleep latency test (MSLT). While obtaining the ambulatory EEG, a clinical event appeared at her school in the morning. The patient sat down first, she looked as if she was asleep, laid down, gazing and did not respond. Her pupils were dilated and the eyes were moving. The 24-hour EEG revealed rapid eye movement (REM) sleep during the attack. The results of the MSLT revealed sleep onset REM in one of the five naps without a feature of pathological sleepiness. This might be a case of cataplexy without narcolepsy.

  15. Narrating narcolepsy--centering a side effect.

    PubMed

    Lundgren, Britta

    2015-01-01

    The mass-vaccination with Pandemrix was the most important preventive measure in Sweden during the A(H1N1) influenza pandemic of 2009-2010, and covered 60% of the population. From 2010, an increased incidence of the neurological disease narcolepsy was reported, and an association with Pandemrix was affirmed for more than 200 children and young adults. The parental experience of this side effect provided a starting point for a collectively shaped critical narrative to be acted out in public, but also personalized narratives of continual learning about the disease and its consequences. This didactic functionality resulted in active meaning-making practices about how to handle the aftermath--using dark humor, cognitive tricks, and making themselves and their children's bodies both objects and subjects of knowledge. Using material from interviews with parents, this mixing of knowledge work and political work, and the potential for reflective consciousness, is discussed. PMID:25457625

  16. Genetic association, seasonal infections and autoimmune basis of narcolepsy.

    PubMed

    Singh, Abinav Kumar; Mahlios, Josh; Mignot, Emmanuel

    2013-06-01

    In recent years, a growing number of potential autoimmune disorders affecting neurons in the central nervous system have been identified, including narcolepsy. Narcolepsy is a lifelong sleep disorder characterized by excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and abnormalities of Rapid Eye Movement sleep. Narcolepsy is generally a sporadic disorder and is caused by the loss of hypocretin (orexin)-producing neurons in the hypothalamus region of the brain. Studies have established that more than 90% of patients have a genetic association with HLA DQB1*06:02. Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRα locus and weaker associations within TNFSF4 (also called OX40L), Cathepsin H and the P2RY11-DNMT1 (purinergic receptor subtype P2Y11 to DNMT1, a DNA methytransferase) loci, suggesting an autoimmune basis. Mutations in DNMT1 have also been reported to cause narcolepsy in association with a complex neurological syndrome, suggesting the importance of DNA methylation in the pathology. More recently, narcolepsy was identified in association with seasonal streptococcus, H1N1 infections and following AS03-adjuvanted pH1N1 influenza vaccination in Northern Europe. Potential immunological pathways responsible for the loss of hypocretin producing neurons in these cases may be molecular mimicry or bystander activation. Specific autoantibodies or T cells cross-reactive with hypocretin neurons have not yet been identified, however, thus narcolepsy does not meet Witebsky's criteria for an autoimmune disease. As the brain is not an easily accessible organ, mechanisms of disease initiation and progression remain a challenge to researchers. PMID:23497937

  17. Errors of Diagnosis in Pediatric Practice: A Multi-Site Survey

    PubMed Central

    Singh, Hardeep; Thomas, Eric J.; Wilson, Lindsey; Kelly, P. Adam; Pietz, Kenneth; Elkeeb, Dena; Singhal, Geeta

    2010-01-01

    Objectives Despite their significance, little is known about diagnostic errors in general pediatric practice other than data from malpractice claims. We surveyed pediatricians to elicit their perceptions about frequency, contributing factors and potential systems and provider-based solutions to address diagnostic errors. Methods Academic, community, and trainee pediatricians at three tertiary care institutions and affiliated 109 clinics (N=1,362) were invited to complete the survey anonymously via an Internet survey administration service between November 2008 and May 2009. Results Overall response rate was 53% (N=726). Over half (54%) of respondents reported that they made a diagnostic error at least once or twice per month; this frequency was markedly higher (77%) among trainees. Almost half (45%) reported diagnostic errors that harmed patients at least once or twice per year. Failure to gather information through history, physical examination or chart-review was the most common reported process breakdown, whereas inadequate care coordination and teamwork was the most common system factor reported. Viral illnesses being diagnosed as a bacterial illness was the most commonly reported diagnostic error followed by misdiagnosis of medication side-effects, psychiatric disorders, and appendicitis. Physicians ranked access to electronic health records and close follow-up of patients as strategies most likely to be effective in preventing diagnostic errors. Conclusions Pediatricians reported making diagnostic errors relatively frequently and patient harm from these errors was not uncommon. Our survey provides new data about the types of diagnostic errors and their causes and lays the groundwork for a concerted, multifaceted approach to reduce these errors in children. PMID:20566604

  18. DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma

    PubMed Central

    Virgone, Calogero; Lalli, Enzo; Bisogno, Gianni; Lazzari, Elena; Roma, Josep; Zin, Angelica; Poli, Elena; Cecchetto, Giovanni; Dall’Igna, Patrizia; Alaggio, Rita

    2015-01-01

    Objectives The aim of this study was to investigate the expression of DAX-1 in a series of pediatric rhabdomyosarcomas (RMS) with known translocation and compare it to Ap2β, known to be selectively expressed in ARMS. Design We revised a series of 71 alveolar rhabdomyosarcomas (ARMS), enrolled in the Italian Protocols RMS 79 and 96, and 23 embryonal rhabdomyosarcomas (ERMS) as controls. Before investigating Ap2β and DAX-1, ARMS were reviewed and reclassified as 48 ARMS and 23 non-ARMS. Results Translocation positive ARMS showed a characteristic Ap2β/DAX-1+ staining pattern in 78% of cases, while 76% of classic ERMS were negative for both. Ap2β alone was positive in 3.9% of RMS lacking translocation, whereas DAX-1 alone was positive in 25.4%. Conversely, 9% and 6% of translocation positive ARMS were positive only for DAX-1 or Ap2β, respectively. The 23 non-ARMS shared the same phenotype as ERMS but had a higher frequency of DAX-1 expression. Conclusions DAX-1 is less specific than Ap2β, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2β. PMID:26168243

  19. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta.

    PubMed

    Moore, M S; Minch, C M; Kruse, R W; Harcke, H T; Jacobson, L; Taylor, A

    1998-12-01

    The role of dual energy x-ray absorptiometry (DEXA) in the evaluation of the pediatric patient with multiple fractures has not been well established. We retrospectively examined the medical records of 45 patients who had presented to our institution with multiple fractures of unknown cause, who were not known to have osteogenesis imperfecta, and who had obtained DEXA as part of their evaluation. Of these, 26 patients had sufficient clinical data for inclusion in this study. Patients underwent DEXA of the anteroposterior spine and whole body. A z score was calculated to normalize the DEXA values for age. The diagnosis of osteogenesis imperfecta was correlated with the outcome of each DEXA scan to assess the validity of DEXA as a diagnostic tool. The DEXA of the anteroposterior spine had the highest sensitivity at 91.7%, while DEXA of the whole body had the highest specificity at 100.0%. Decreased bone mineral density may be associated with osteogenesis imperfecta, and DEXA is helpful in detecting low bone mineral density that may be missed on plain radiographs of children with milder forms of osteogenesis imperfecta. PMID:9880097

  20. Sleeping Beauty in the Classroom: What Do Teachers Know about Narcolepsy?

    ERIC Educational Resources Information Center

    Cosgrove, Maryellen S.

    2002-01-01

    Investigated teachers' awareness of narcolepsy and the accuracy of their knowledge. Found educators uninformed about narcolepsy and how to accommodate narcoleptic students. Recommended that teachers be aware of narcolepsy's symptoms, plan variety and movement into students' lessons, and allow students to redo assignments if a sleep attack…

  1. Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome.

    PubMed

    Coppola, Antonietta; Chinthapalli, Krishna; Hammond, Peter; Sander, Josemir W; Sisodiya, Sanjay M

    2013-01-10

    Wolf-Hirschhorn syndrome is a well-known clinical entity caused by a terminal deletion of the short arm of chromosome 4 (4p-). The diagnosis is usually made in childhood because of the pathognomonic facial dysmorphism, multi-organ involvement and seizures. Epilepsy is a major medical complication during the first years of life, with seizures typically being frequent, although they tend to improve or cease with age. We report on a woman diagnosed with WHS in her thirties by array-CGH. She presents with milder dysmorphic features, recognized by stereophotogrammetry and seizures persistent in adulthood. PMID:23064045

  2. [The Spanish Society of Pediatric Infectious Diseases Guidelines for the diagnosis and treatment of congenital toxoplasmosis].

    PubMed

    Baquero-Artigao, F; del Castillo Martín, F; Fuentes Corripio, I; Goncé Mellgren, A; Fortuny Guasch, C; de la Calle Fernández-Miranda, M; González-Tomé, M I; Couceiro Gianzo, J A; Neth, O; Ramos Amador, J T

    2013-08-01

    Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection. PMID:23352717

  3. Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation.

    PubMed

    Deltenre, Paul; Van Maldergem, Lionel

    2013-01-01

    With prevalence figures close to 0.2% at birth and rising to 0.35% during adolescence, hearing loss is the most frequent sensory impairment in childhood. This silent handicap has to be actively sought for without delay as it will seriously interfere with the development of speech, language, cognitive and socio-emotional behavior. Objective physiological techniques (evoked potentials, oto-acoustic emissions, tympanometry) combined according to the cross-check principle allow early diagnosis. Objective testing yields invaluable information about the mechanism of the loss and the contribution of disruption of the neural code to the handicap. Among the acquired causes, cytomegalovirus (CMV) infections plays a major role and may take elusive forms. Aminoglycoside ototoxicity has a genetic determinant. Meningitis can lead to rapid endocochlear ossification prompting for rapid cochlear implantation. Genetic causes account for more than 60% of congenital hearing loss, new genetic causes being discovered at an amazing rate. The high number of genetic entities and their huge heterogeneity among them requires guidelines for requesting genetic testing when desirable. Several syndromes prone to request neuropediatricians' attention as an early diagnosis followed by specific treatment can considerably limit the ensuing handicap. Whatever the type of assistive device fitted (amplifying hearing aid or cochlear implant) and the importance of associated handicaps, a multidisciplinary rehabilitation combined with educated parental commitment is necessary for optimal results. PMID:23622376

  4. Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series)

    PubMed Central

    KARIMZADEH, Parvaneh; JAFARI, Narjes; AHMAD ABADI, Farzad; JABBEDARI, Sayena; TAGHDIRI, Mohammad-Mahdi; NEMATI, Hamid; SAKET, Sasan; SHARIATMADARI, Seyed-fakhreddin; ALAEE, Mohammad-Reza; GHOFRANI, Mohammad; TONEKABONI, Seyed Hasan

    2013-01-01

    Objective Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. Materials & Methods The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia. Results Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia; 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia. Conclusion According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs. PMID:24665309

  5. Orexin neurons suppress narcolepsy via 2 distinct efferent pathways

    PubMed Central

    Hasegawa, Emi; Yanagisawa, Masashi; Sakurai, Takeshi; Mieda, Michihiro

    2014-01-01

    The loss of orexin neurons in humans is associated with the sleep disorder narcolepsy, which is characterized by excessive daytime sleepiness and cataplexy. Mice lacking orexin peptides, orexin neurons, or orexin receptors recapitulate human narcolepsy phenotypes, further highlighting a critical role for orexin signaling in the maintenance of wakefulness. Despite the known role of orexin neurons in narcolepsy, the precise neural mechanisms downstream of these neurons remain unknown. We found that targeted restoration of orexin receptor expression in the dorsal raphe (DR) and in the locus coeruleus (LC) of mice lacking orexin receptors inhibited cataplexy-like episodes and pathological fragmentation of wakefulness (i.e., sleepiness), respectively. The suppression of cataplexy-like episodes correlated with the number of serotonergic neurons restored with orexin receptor expression in the DR, while the consolidation of fragmented wakefulness correlated with the number of noradrenergic neurons restored in the LC. Furthermore, pharmacogenetic activation of these neurons using designer receptor exclusively activated by designer drug (DREADD) technology ameliorated narcolepsy in mice lacking orexin neurons. These results suggest that DR serotonergic and LC noradrenergic neurons play differential roles in orexin neuron–dependent regulation of sleep/wakefulness and highlight a pharmacogenetic approach for the amelioration of narcolepsy. PMID:24382351

  6. [Recombinant allergens for diagnosis and specific immunotherapy--value in pediatric patients].

    PubMed

    Couderc, Rémy; Just, Jocelyne

    2013-03-01

    Identification of culprit allergens is important for prophylactic measures and specific allergen immunotherapy (SIT). Since the late 1980s, the use of molecular cloning technology has led to a major improvement in our knowledge of epitopes involved in IgE-mediated allergy, and has also allowed in vitro production of recombinant allergens of interest for the diagnosis of allergenic sensitization. It has also improved our understanding of allergen cross-reactivity, which can be responsible for severe clinical manifestations, particularly in children with food allergy and allergic asthma. Better knowledge of molecular and cellular mechanisms of allergenic sensitization, based on the use of natural or modified recombinant allergens, has led to the development of effective SIT strategies which, in the foreseeable future, could provide genuine cure, therefore avoiding use of symptomatic therapeutics, starting very early in childhood. PMID:25163347

  7. Optic neuritis in pediatric population: a review in current tendencies of diagnosis and management.

    PubMed

    Pérez-Cambrodí, Rafael José; Gómez-Hurtado Cubillana, Aránzazu; Merino-Suárez, María L; Piñero-Llorens, David P; Laria-Ochaita, Carlos

    2014-01-01

    Optic neuritis is an inflammation of the optic nerve and may be related to different systemic conditions. The clinical presentation of this pathology usually includes sudden loss of visual acuity (VA) which may be unilateral or bilateral, visual field restriction, pain with eye movements, dyschromatopsia, a relative afferent pupillary defect and optic disk swelling. Optic neuritis in children has specific clinical features and a better prognosis than in adulthood. Although usually appears an underlying viral disease, the main concern for practitioners is the relationship of optic neuritis with multiple sclerosis. In addition to the classical techniques as magnetic resonance imaging (MRI), current tendencies of diagnosis for eye practitioners include new imaging devices as optical coherence tomography (OCT), useful to show a thinning of the retinal fibers layer (RFL) after the inflammatory episode. Regarding the management of these patients, short-term intravenous steroid dosages seem to be the best option to treat acute attacks characterized by a very poor bilateral VA. PMID:25000867

  8. Pediatric rosacea.

    PubMed

    Kellen, Roselyn; Silverberg, Nanette B

    2016-07-01

    Because rosacea is uncommon in the pediatric population, care must be taken to exclude other papulopustular disorders. Children can present with vascular, papulopustular, and/or ocular findings. Importantly, ocular symptoms can appear before the cutaneous symptoms of rosacea, leading to misdiagnosis. Rosacea is a clinical diagnosis, but histopathologic examination typically reveals dilated vessels, perivascular lymphohistiocytic infiltrates in the upper dermis, elastosis, and disorganization of the upper dermal connective tissue. Treatment involves avoiding known triggers and utilizing topical and/or systemic therapies. Although treatment can control flares, pediatric rosacea often persists into adulthood. PMID:27529708

  9. Pandemrix™ and narcolepsy: A critical appraisal of the observational studies.

    PubMed

    Verstraeten, Thomas; Cohet, Catherine; Dos Santos, Gaël; Ferreira, Germano Lc; Bollaerts, Kaatje; Bauchau, Vincent; Shinde, Vivek

    2016-01-01

    A link between Pandemrix™ (AS03-adjuvanted H1N1 pandemic influenza vaccine, GSK Vaccines, Belgium) and narcolepsy was first suspected in 2010 in Sweden and Finland following a number of reports in children and adolescents. Initial scepticism about the reported association faded as additional countries reported similar findings, leading several regulatory authorities to restrict the use of Pandemrix™. The authors acknowledge that currently available data suggest an increased risk of narcolepsy following vaccination with Pandemrix™; however, from an epidemiologist's perspective, significant methodological limitations of the studies have not been fully addressed and raise questions about the reported risk estimates. We review the most important biases and confounders that potentially occurred in 12 European studies of the observed association between Pandemrix™ and narcolepsy, and call for further analyses and debate. PMID:26379011

  10. Alopecia areata and narcolepsy: a tale of obscure autoimmunity.

    PubMed

    Nigam, Gaurav; Pathak, Charu; Riaz, Muhammad

    2016-01-01

    Alopecia areata is an autoimmune dermatological disorder characterised by loss of hair in one or more discrete patches over the scalp. It has been linked to multiple disorders having an autoimmune origin. Like many autoimmune disorders it tends to be more common in females. To date, only five cases have been reported where alopecia has been associated with narcolepsy. Male gender is less commonly affected by alopecia areata. No case of alopecia areata in males has been associated with narcolepsy to the best of our knowledge. The current case represents the first ever-reported case of alopecia areata in a male patient with narcolepsy type 1. This coexistence is most likely the manifestation of a common underlying pathoimmunological mechanism that has not been completely understood, rather than a random association. PMID:27060069

  11. Severe Mania Complicating Treatment of Narcolepsy with Cataplexy

    PubMed Central

    Crosby, Mark I.; Bradshaw, David A.; McLay, Robert N.

    2011-01-01

    We report the case of a 22-year-old male who exhibited severe manic behavior shortly after beginning treatment with modafinil and venlafaxine for narcolepsy with cataplexy. The manic episode persisted several weeks after medication cessation and required management with a mood stabilizer. Reinstitution of modafinil and an alternate antidepressant for recurrent sleepiness and cataplexy was well tolerated and very effective. Sleep physicians should be aware that psychostimulants, including modafinil, and antidepressant medications commonly prescribed for treatment of narcolepsy may precipitate mania in patients with underlying bipolar disorder. Citation: Crosby MI; Bradshaw DA; McLay RN. Severe mania complicating treatment of narcolepsy with cataplexy. J Clin Sleep Med 2011;7(2):214-216. PMID:21509339

  12. The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients

    PubMed Central

    JABBEHDARI, Sayena; RAHIMIAN, Elham; JAFARI, Narjes; SANII, Sara; KHAYATZADEHKAKHKI, Simin; NEJAD BIGLARI, Habibe

    2015-01-01

    Objective Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. Materials & Methods Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy. Results From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. Conclusion MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran. PMID:26401154

  13. Current controversies in diagnosis, management, and prevention of congenital cytomegalovirus: updates for the pediatric practitioner.

    PubMed

    Harrison, Gail J

    2015-05-01

    Congenital cytomegalovirus (CMV) infection has been called "the elephant in our living room" because it is a major public health problem that for decades has been unrecognized and unaddressed. Congenital CMV infection is a common cause of sensorineural hearing loss, vision loss, neurodevelopment disabilities, liver disease, and growth failure. Diagnostic tests are now widely available to identify newborns with congenital CMV infection, congenitally infected newborns now can be easily assessed for evidence of organ involvement, and there are now antiviral treatments and other interventions available to improve the outcome in children with congenital CMV disease. A licensed vaccine to prevent CMV infection is not yet available; however, a "CMV knowledge vaccine," composed of "an ounce of CMV awareness and three simple precautions" and that is endorsed by the Centers for Disease Control and Prevention is available for pregnant women who wish to reduce their contact with potentially CMV-infected secretions and therefore reduce their risk of acquiring CMV during pregnancy. Medical experts in the field of congenital CMV have been called upon for a consensus statement for diagnosis and treatment, and nonprofit organizations of families affected by congenital CMV from around the world have formed a collaborative coalition to facilitate the spread of CMV knowledge and awareness. PMID:25996198

  14. Comorbidity of Narcolepsy Type 1 With Autoimmune Diseases and Other Immunopathological Disorders: A Case-Control Study

    PubMed Central

    Martinez-Orozco, Francisco Javier; Vicario, Jose Luis; De Andres, Clara; Fernandez-Arquero, Miguel; Peraita-Adrados, Rosa

    2016-01-01

    Background Several evidences suggest that autoimmune diseases (ADs) tend to co-occur in an individual and within the same family. Narcolepsy type 1 (NT1) is a chronic sleep disorder caused by a selective loss of hypocretin-producing neurons due to a mechanism of neural destruction that indicates an autoimmune pathogenesis, although no evidence is available. We report on the comorbidity of ADs and other immunopathological diseases (including allergy diseases) in narcolepsy. Methods We studied 158 Caucasian NT1 patients (60.7% male; mean age 49.4 ± 19.7 years), in whom the diagnosis was confirmed by polysomnography followed by a multiple sleep latency test, or by hypocretin-1 levels measurements. Results Thirty out of 158 patients (18.99%; 53.3% female; 29 sporadic and one familial cases) had one or more immunopathological diseases associated. A control group of 151 subjects were matched by gender and age with the narcolepsy patients. Results demonstrated that there was a higher frequency of ADs in our series of narcolepsy patients compared to the sample of general population (odds ratio: 3.17; 95% confidence interval: 1.01 - 10.07; P = 0.040). A temporal relationship with the age at onset of the diseases was found. Conclusions Cataplexy was significantly more severe in NT1 patients with immunopathological diseases, and immunopathological diseases are a risk factor for severe forms of cataplexy in our series (odds ratio: 23.6; 95% confidence interval: 5.5 - 100.1). PMID:27298657

  15. Current and emerging options for the drug treatment of narcolepsy.

    PubMed

    De la Herrán-Arita, Alberto K; García-García, Fabio

    2013-11-01

    Narcolepsy/hypocretin deficiency (now called type 1 narcolepsy) is a lifelong neurologic disorder with well-established diagnostic criteria and etiology. Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness (EDS) and symptoms of dissociated rapid eye movement sleep such as cataplexy (sudden loss of muscle tone), hypnagogic hallucinations (sensory events that occur at the transition from wakefulness to sleep), sleep paralysis (inability to perform movements upon wakening or sleep onset), and nocturnal sleep disruption. As these symptoms are often disabling, most patients need life-long treatment. The treatment of narcolepsy is well defined, and, traditionally, amphetamine-like stimulants (i.e., dopaminergic release enhancers) have been used for clinical management to improve EDS and sleep attacks, whereas tricyclic antidepressants have been used as anticataplectics. However, treatments have evolved to better-tolerated compounds such as modafinil or armodafinil (for EDS) and adrenergic/serotonergic selective reuptake inhibitors (as anticataplectics). In addition, night-time administration of a short-acting sedative, c-hydroxybutyrate (sodium oxybate), has been used for the treatment for EDS and cataplexy. These therapies are almost always needed in combination with non-pharmacologic treatments (i.e., behavioral modification). A series of new drugs is currently being tested in animal models and in humans. These include a wide variety of hypocretin agonists, melanin- concentrating hormone receptor antagonists, antigenspecific immunopharmacology, and histamine H3 receptor antagonists/inverse agonists (e.g., pitolisant), which have been proposed for specific therapeutic applications, including the treatment of Alzheimer's disease, attention-deficit hyperactivity disorder, epilepsy, and more recently, narcolepsy. Even though current treatment is strictly symptomatic, based on the present state of knowledge of the pathophysiology of

  16. Absence of NMDA receptor antibodies in the rare association between Type 1 Narcolepsy and Psychosis.

    PubMed

    Dauvilliers, Y; Gaig, C; Barateau, L; Graus, F; Iranzo, A; Lopez, R; Santamaria, J

    2016-01-01

    Frequency and mechanisms underlying the association between narcolepsy type 1 (NT1) and psychosis remain unclear with potential role for a common immune pathway. We estimated the frequency of psychosis and its characteristics in NT1 at two European sleep centers (France, n = 381; Spain, n = 161) and measured IgG autoantibodies that recognize the GluN1 subunit of the NMDAR in 9 patients with NT1 with psychosis, and 25 NT1 patients without psychosis. Ten NT1 patients (6 in France, 4 in Spain) were diagnosed with comorbid psychosis, a frequency of 1.8%. One patient reported psychotic symptoms few months before narcolepsy onset, two patients few months after onset, and one patient one year after onset but after modafinil introduction. The six remaining patients reported long delays between NT1 and psychosis onset. Half the patients, mostly male adults, reported onset or worsening of psychotic symptoms after medication. We found no IgG antibodies to NR1/NR2B heteromers of the NMDARs in patients with NT1 with or without psychosis. To conclude, psychosis is rare in NT1, with limited evidence for a key impact of stimulants, and no association with anti-NMDAR antibodies. However, dramatic NT1 and schizophrenia exists especially in early onset NT1, which may lead to inappropriate diagnosis and management. PMID:27143278

  17. Absence of NMDA receptor antibodies in the rare association between Type 1 Narcolepsy and Psychosis

    PubMed Central

    Dauvilliers, Y.; Gaig, C.; Barateau, L.; Graus, F.; Iranzo, A.; Lopez, R.; Santamaria, J.

    2016-01-01

    Frequency and mechanisms underlying the association between narcolepsy type 1 (NT1) and psychosis remain unclear with potential role for a common immune pathway. We estimated the frequency of psychosis and its characteristics in NT1 at two European sleep centers (France, n = 381; Spain, n = 161) and measured IgG autoantibodies that recognize the GluN1 subunit of the NMDAR in 9 patients with NT1 with psychosis, and 25 NT1 patients without psychosis. Ten NT1 patients (6 in France, 4 in Spain) were diagnosed with comorbid psychosis, a frequency of 1.8%. One patient reported psychotic symptoms few months before narcolepsy onset, two patients few months after onset, and one patient one year after onset but after modafinil introduction. The six remaining patients reported long delays between NT1 and psychosis onset. Half the patients, mostly male adults, reported onset or worsening of psychotic symptoms after medication. We found no IgG antibodies to NR1/NR2B heteromers of the NMDARs in patients with NT1 with or without psychosis. To conclude, psychosis is rare in NT1, with limited evidence for a key impact of stimulants, and no association with anti-NMDAR antibodies. However, dramatic NT1 and schizophrenia exists especially in early onset NT1, which may lead to inappropriate diagnosis and management. PMID:27143278

  18. Pediatric sepsis

    PubMed Central

    Randolph, Adrienne G; McCulloh, Russell J

    2014-01-01

    Sepsis is the leading cause of death in children worldwide. Although the diagnosis and management of sepsis in infants and children is largely influenced by studies done in adults, there are important considerations relevant for pediatrics. This article highlights pediatric-specific issues related to the definition of sepsis and its epidemiology and management. We review how the capacity of the immune system to respond to infection develops over early life. We also bring attention to primary immune deficiencies that should be considered in children recurrently infected with specific types of organisms. The management of pediatric sepsis must be tailored to the child’s age and immune capacity, and to the site, severity, and source of the infection. It is important for clinicians to be aware of infection-related syndromes that primarily affect children. Although children in developed countries are more likely to survive severe infections than adults, many survivors have chronic health impairments. PMID:24225404

  19. Treatment of Narcolepsy and other Hypersomnias of Central Origin

    PubMed Central

    Wise, Merrill S.; Arand, Donna L.; Auger, R. Robert; Brooks, Stephen N.; Watson, Nathaniel F.

    2007-01-01

    Objective: The purpose of this paper is to summarize current knowledge about treatment of narcolepsy and other hypersomnias of central origin. Methods: The task force performed a systematic and comprehensive review of the relevant literature and graded the evidence using the Oxford grading system. This paper discusses the strengths and limitations of the available evidence regarding treatment of these conditions, and summarizes key information about safety of these medications. Our findings provide the foundation for development of evidence-based practice parameters on this topic by the Standards of Practice Committee of the American Academy of Sleep Medicine. Results: The majority of recent papers in this field provide information about use of modafinil or sodium oxybate for treatment of sleepiness associated with narcolepsy. Several large randomized, placebo-controlled studies indicate that modafinil and sodium oxybate are effective for treatment of hypersomnia due to narcolepsy. We identified no studies that report direct comparison of these newer medications versus traditional stimulants, or that indicate what proportion of patients treated initially with these medications require transition to traditional stimulants or to combination therapy to achieve adequate alertness. As with the traditional stimulants, modafinil and sodium oxybate provide, at best, only moderate improvement in alertness rather than full restoration of alertness in patients with narcolepsy. Several large randomized placebo-controlled studies demonstrate that sodium oxybate is effective for treatment of cataplexy associated with narcolepsy, and earlier studies provide limited data to support the effectiveness of fluoxetine and tricyclic antidepressants for treatment of cataplexy. Our findings indicate that very few reports provide information regarding treatment of special populations such as children, older adults, and pregnant or breastfeeding women. The available literature provides a

  20. A Novel Approach to Treating Morning Sleep Inertia in Narcolepsy

    PubMed Central

    Bagai, Kanika; Malow, Beth A.

    2010-01-01

    We describe an adolescent with narcolepsy who presented with inability to awaken from sleep to attend early morning classes at school. After he did not respond to traditional therapies, a nicotine patch was prescribed with success. We present our experience with this unconventional treatment, which may benefit others with inability to awaken from sleep that is refractory to standard treatments. Citation: Bagai K; Malow BA. A novel approach to treating morning sleep inertia in narcolepsy. J Clin Sleep Med 2010;6(1):77-78. PMID:20191943

  1. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

    PubMed Central

    Lin, Wei-Xia; Zeng, Han-Shi; Zhang, Zhan-Hui; Mao, Man; Zheng, Qi-Qi; Zhao, Shu-Tao; Cheng, Ying; Chen, Feng-Ping; Wen, Wang-Rong; Song, Yuan-Zong

    2016-01-01

    Citrin deficiency (CD) is a Mendelian disease due to biallelic mutations of SLC25A13 gene. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric CD phenotype, and its definite diagnosis relies on SLC25A13 genetic analysis. China is a vast country with a huge population, but the SLC25A13 genotypic features of CD patients in our country remains far from being well clarified. Via sophisticated molecular analysis, this study diagnosed 154 new CD patients in mainland China and identified 9 novel deleterious SLC25A13 mutations, i.e. c.103A > G, [c.329 − 154_c.468 + 2352del2646; c.468 + 2392_c.468 + 2393ins23], c.493C > T, c.755 − 1G > C, c.845_c.848 + 1delG, c.933_c.933 + 1insGCAG, c.1381G > T, c.1452 + 1G > A and c.1706_1707delTA. Among the 274 CD patients diagnosed by our group thus far, 41 SLC25A13 mutations/variations were detected. The 7 mutations c.775C > T, c.851_854del4, c.1078C > T, IVS11 + 1G > A, c.1364G > T, c.1399C > T and IVS16ins3kb demonstrated significantly different geographic distribution. Among the total 53 identified genotypes, only c.851_854del4/c.851_854del4 and c.851_854del4/c.1399C > T presented different geographic distribution. The northern population had a higher level of SLC25A13 allelic heterogeneity than those in the south. These findings enriched the SLC25A13 mutation spectrum and brought new insights into the geographic distribution of the variations and genotypes, providing reliable evidences for NICCD definite diagnosis and for the determination of relevant molecular targets in different Chinese areas. PMID:27405544

  2. Pediatric Hand Injuries.

    PubMed

    Sullivan, Matthew A; Cogan, Charles J; Adkinson, Joshua M

    2016-01-01

    Pediatric hand injuries are extremely common. Although many hand injuries are adequately managed in the emergency department, some may need evaluation and treatment by a pediatric hand surgeon to ensure a good functional outcome. This article discusses the diagnosis and management of the most common pediatric hand maladies: fingertip injuries/amputation, tendon injuries, and phalangeal and metacarpal fractures. The plastic surgery nurse should be familiar with hand injuries that require intervention to facilitate efficient management and optimal postoperative care. PMID:27606586

  3. Genomic profiling of pediatric acute myeloid leukemia reveals a changing mutational landscape from disease diagnosis to relapse | Office of Cancer Genomics

    Cancer.gov

    The genomic and clinical information used to develop and implement therapeutic approaches for AML originated primarily from adult patients and has been generalized to patients with pediatric AML. However, age-specific molecular alterations are becoming more evident and may signify the need to age-stratify treatment regimens. The NCI/COG TARGET-AML initiative employed whole exome capture sequencing (WXS) to interrogate the genomic landscape of matched trios representing specimens collected upon diagnosis, remission, and relapse from 20 cases of de novo childhood AML.

  4. Isolated Cataplexy in the Differential Diagnosis of Drop Attacks: A Case of Successful Clinical Diagnosis and Treatment

    PubMed Central

    Egel, Robert T.; Lee, Anthony; Bump, Thomas; Javois, Alexander

    2012-01-01

    Drop attacks are sudden spontaneous falls that are not accompanied by alteration of consciousness and are followed by immediate recovery. Cataplexy, which is usually associated with narcolepsy, is one of the causes of drop attacks. We report a patient with the rare condition of cataplexy without associated narcolepsy (isolated cataplexy). Isolated cataplexy should be included in the differential diagnosis when a patient presents with recurrent drop attacks and normal diagnostic test results. PMID:22937359

  5. White and Gray Matter Abnormalities in Narcolepsy with Cataplexy

    PubMed Central

    Scherfler, Christoph; Frauscher, Birgit; Schocke, Michael; Nocker, Michael; Gschliesser, Viola; Ehrmann, Laura; Niederreiter, Markus; Esterhammer, Regina; Seppi, Klaus; Brandauer, Elisabeth; Poewe, Werner; Högl, Birgit

    2012-01-01

    Study Objectives: The authors applied diffusion-tensor imaging including measurements of mean diffusivity (MD), which is a parameter of brain tissue integrity, fractional anisotropy (FA), which is a parameter of neuronal fiber integrity, and voxel-based morphometry, which is a measure of gray and white matter volume, to detect brain tissue changes in patients with narcolepsy-cataplexy. Design: N/A. Patients: Patients with narcolepsy-cataplexy (n = 16) and age-matched healthy control subjects (n = 12) were studied. Interventions: Whole cerebral MD, FA measures, and the volumes of the gray and white matter compartments were analyzed using statistical parametric mapping. Measurement and Results: Significant MD increases and concomitant FA decreases were localized in the fronto-orbital cortex (P < 0.001) and the anterior cingulate (FA, P < 0.001; MD, P = 0.03) in narcolepsy-cataplexy. Additional MD increases without FA changes were detected in the ventral tegmental area, the dorsal raphe nuclei (P < 0.001), and the hypothalamus (P < 0.01). FA signal decreases were observed in the white matter tracts of the inferior frontal and inferior temporal cortices of narcolepsy-cataplexy patients (P < 0.001). Brain volume loss was evident in focal areas of the inferior and superior temporal cortices (P < 0.001) and the cingulate (P = 0.038). Conclusions: Areas of increased diffusivity in the hypothalamus appear consistent with hypocretinergic cell loss reported in narcolepsy-cataplexy. Signal abnormalities in the ventral tegmental area and the dorsal raphe nuclei correspond to major synaptic targets of hypocretin neurons that were associated with the regulation of the sleep-wake cycle. Brain tissue alterations identified in the frontal cortex and cingulate are crucial in the maintenance of attention and reward-dependent decision making, both known to be impaired in narcolepsy-cataplexy. Citation: Scherfler C; Frauscher B; Schocke M; Nocker M; Gschliesser V; Ehrmann L

  6. [Non-invasive urodynamic approach to the diagnosis, treatment and follow-up of voiding disorders in pediatric patients].

    PubMed

    Chiarenza, S F; Fabbro, M A; D'Agostino, S; Fasoli, L; Musi, L

    2003-01-01

    The authors reports their experience on 248 patients affected by minctional disorders isolated or related to UTI (upper tract infections) and VUR (vesico-ureteral reflux). All the patients were assessed throught a predominantly non invasive diagnostic approach which included: pediatric urologic examination with aimed anamnestic and clinical freaming, functional examination of the lower urinary tract using uroflowmetry + EMG of the perineal plane muscles (UR + EMG), kidney and bladder ultrasound. This methodology has permitted a widening of the indications in the study of vesical function as well as limiting the selected cases (hight UTI, uncertain diagnosis) of mini-invasive examination, such as flow pressure study, minctional cystourethrogram (MC) and or renal scintigraphy. An MNR of the lumbo-sacral medulla (cord) and a neurological and/or neurosurgery evaluation were only carried out were there was a suspected occult neurological pathology. The clinical sintomatogy was as follows: approximately 70% of the patients suffered from partial diurnal incontinence, 42% were affected by secondary nocturnal enuresis while 58.6% suffered from recurrent UTI. In those patients with UTI, 11% (16 patients, 24 ureteral units) suffered from associated VUR while 3.5% suffered from either congenital or acquired urethral stenosis. From the urodynamic examination, we determined the presence of detrusorial instability in 158 patients (64%) and lazy bladder or vescical hypotonia in 84 patients (34%). The suggested therapy foresees the use of: hospital home-based uroriabilitation (minctional biofeedback), endoscopic therapy (sub-ureteral bulking, urethral dilatation) and corrective VUR surgery (only in those cases that did not respond to medical treatment). The percentage of total recovery in patients with detrusorial instability was 80%, the minctional biofeedback both associated and unassociated with drug therapy lead to complete recovery in 66% of patients with lazy and uncordinated

  7. Pediatric Odontogenic Tumors.

    PubMed

    Abrahams, Joshua M; McClure, Shawn A

    2016-02-01

    Pediatric odontogenic tumors are rare, and are often associated with impacted teeth. Although they can develop anywhere in the jaws, odontogenic tumors mainly occur in the posterior mandible. This article discusses the diagnosis and treatment of the most common pediatric odontogenic tumors, such as ameloblastoma, keratocystic odontogenic tumor, odontoma, and cementoblastoma. PMID:26614700

  8. Pandemic influenza vaccine & narcolepsy: simulations on the potential impact of bias.

    PubMed

    Wijnans, Leonoor; Dodd, Caitlin; de Ridder, Maria; Romio, Silvana; Weibel, Daniel; Overeem, Sebastiaan; Lammers, Gert Jan; Bonhoeffer, Jan; Black, Steve; Sturkenboom, Miriam

    2016-05-01

    Several studies have identified an association between Pandemrix(TM), an AS03 adjuvanted pandemic influenza A(H1N1) vaccine, and narcolepsy, a rare and under-diagnosed sleep disorder with a median onset-to-diagnosis interval of ten years. This paper reviews potential sources of bias in published studies and aims to provide, through simulation, methodological recommendations for assessment of vaccine safety signals. Our simulation study showed that in the absence of an association between the vaccine and the outcome, presence of detection bias and differential exposure misclassification could account for elevated risk estimates. These may play a major role, particularly in alert situations when observation times are limited and the disease has a long latency period. Estimates from the case-control design were less inflated than those from the cohort design when these biases were present. Overall, these simulations provide useful insights for the design and interpretation of future studies. PMID:26967200

  9. Application of Probabilistic Multiple-Bias Analyses to a Cohort- and a Case-Control Study on the Association between Pandemrix™and Narcolepsy

    PubMed Central

    Bollaerts, Kaatje; Shinde, Vivek; Dos Santos, Gaël; Ferreira, Germano; Bauchau, Vincent; Cohet, Catherine; Verstraeten, Thomas

    2016-01-01

    Background An increase in narcolepsy cases was observed in Finland and Sweden towards the end of the 2009 H1N1 influenza pandemic. Preliminary observational studies suggested a temporal link with the pandemic influenza vaccine Pandemrix™, leading to a number of additional studies across Europe. Given the public health urgency, these studies used readily available retrospective data from various sources. The potential for bias in such settings was generally acknowledged. Although generally advocated by key opinion leaders and international health authorities, no systematic quantitative assessment of the potential joint impact of biases was undertaken in any of these studies. Methods We applied bias-level multiple-bias analyses to two of the published narcolepsy studies: a pediatric cohort study from Finland and a case-control study from France. In particular, we developed Monte Carlo simulation models to evaluate a potential cascade of biases, including confounding by age, by indication and by natural H1N1 infection, selection bias, disease- and exposure misclassification. All bias parameters were evidence-based to the extent possible. Results Given the assumptions used for confounding, selection bias and misclassification, the Finnish rate ratio of 13.78 (95% CI: 5.72–28.11) reduced to a median value of 6.06 (2.5th- 97.5th percentile: 2.49–15.1) and the French odds ratio of 5.43 (95% CI: 2.6–10.08) to 1.85 (2.5th—97.5th percentile: 0.85–4.08). Conclusion We illustrate multiple-bias analyses using two studies on the Pandemrix™-narcolepsy association and advocate their use to better understand the robustness of study findings. Based on our multiple-bias models, the observed Pandemrix™-narcolepsy association consistently persists in the Finnish study. For the French study, the results of our multiple-bias models were inconclusive. PMID:26901063

  10. Isolated mediotegmental lesion causing narcolepsy and rapid eye movement sleep behaviour disorder: a case evidencing a common pathway in narcolepsy and rapid eye movement sleep behaviour disorder

    PubMed Central

    Mathis, J; Hess, C W; Bassetti, C

    2007-01-01

    Narcolepsy is usually an idiopathic disorder, often with a genetic predisposition. Symptomatic cases have been described repeatedly, often as a consequence of hypothalamic lesions. Conversely, REM (rapid eye movement) sleep behaviour disorder (RBD) is usually a secondary disorder, often due to degenerative brain stem disorders or narcolepsy. The case of a hitherto healthy man is presented, who simultaneously developed narcolepsy and RBD as the result of an acute focal inflammatory lesion in the dorsomedial pontine tegmentum in the presence of normal cerebrospinal fluid hypocretin‐1 levels and in the absence of human lymphocyte antigen haplotypes typically associated with narcolepsy and RBD (DQB1*0602, DQB1*05). This first observation of symptomatic narcolepsy with RBD underlines the importance of the mediotegmental pontine area in the pathophysiology of both disorders, even in the absence of a detectable hypocretin deficiency and a genetic predisposition. PMID:17369596

  11. Health-Related Stigma as a Determinant of Functioning in Young Adults with Narcolepsy

    PubMed Central

    Kapella, Mary C.; Berger, Barbara E.; Vern, Boris A.; Vispute, Sachin; Prasad, Bharati; Carley, David W.

    2015-01-01

    Symptoms of narcolepsy tend to arise during adolescence or young adulthood, a formative time in human development during which people are usually completing their education and launching a career. Little is known about the impact of narcolepsy on the social aspects of health-related quality of life in young adults. The purpose of this study was to examine relationships between health-related stigma, mood (anxiety and depression) and daytime functioning in young adults with narcolepsy compared to those without narcolepsy. Young adults (age 18–35) with narcolepsy (N = 122) and without narcolepsy (N = 93) were mailed a packet that included questionnaires and a self-addressed postage paid envelope. The questionnaire included demographic information and a composite of instruments including the SF 36, Functional Outcomes of Sleep Questionnaire (FOSQ), Fife Stigma Scale (FSS), Epworth Sleepiness Scale (ESS) and Hospital Anxiety and Depression Scale (HADS). Variable associations were assessed using descriptive statistics, ANOVA, Mann-Whitney U Test, correlations, stepwise multiple regression and path analysis. Young adults with narcolepsy perceived significantly more stigma and lower mood and health-related quality of life than young adults without narcolepsy (p<0.01). Health-related stigma was directly and indirectly associated with lower functioning through depressed mood. Fifty-two percent of the variance in functioning was explained by the final model in the young adults with narcolepsy. Health-related stigma in young adults with narcolepsy is at a level consistent with other chronic medical illnesses. Health-related stigma may be an important determinant of functioning in young adults with narcolepsy. Future work is indicated toward further characterizing stigma and developing interventions that address various domains of stigma in people with narcolepsy. PMID:25898361

  12. Unmet needs of patients with narcolepsy: perspectives on emerging treatment options

    PubMed Central

    Wozniak, Dariusz R; Quinnell, Timothy G

    2015-01-01

    The treatment options currently available for narcolepsy are often unsatisfactory due to suboptimal efficacy, troublesome side effects, development of drug tolerance, and inconvenience. Our understanding of the neurobiology of narcolepsy has greatly improved over the last decade. This knowledge has not yet translated into additional therapeutic options for patients, but progress is being made. Some compounds, such as histaminergic H3 receptor antagonists, may prove useful in symptom control of narcolepsy. The prospect of finding a cure still seems distant, but hypocretin replacement therapy offers some promise. In this narrative review, we describe these developments and others which may yield more effective narcolepsy treatments in the future. PMID:26045680

  13. The Safety of Adjuvanted Vaccines Revisited: Vaccine-Induced Narcolepsy.

    PubMed

    Ahmed, S Sohail; Montomoli, Emanuele; Pasini, Franco Laghi; Steinman, Lawrence

    2016-01-01

    Despite the very high benefit-to-risk ratio of vaccines, the fear of negative side effects has discouraged many people from getting vaccinated, resulting in the reemergence of previously controlled diseases such as measles, pertussis and diphtheria. This fear has been amplified more recently by multiple epidemiologic studies that confirmed the link of an AS03-adjuvanted pandemic influenza vaccine (Pandemrix, GlaxoSmithKline Biologicals, Germany) used in Europe during the 2009 H1N1 influenza pandemic [A(H1N1) pdm09] with the development of narcolepsy, a chronic sleep disorder, in children and adolescents. However, public misperceptions of what adjuvants are and why they are used in vaccines has created in some individuals a closed "black box" attitude towards all vaccines. The focus of this review article is to revisit this "black box" using the example of narcolepsy associated with the European AS03-adjuvanted pandemic influenza vaccine. PMID:27228647

  14. GABAB agonism promotes sleep and reduces cataplexy in murine narcolepsy.

    PubMed

    Black, Sarah Wurts; Morairty, Stephen R; Chen, Tsui-Ming; Leung, Andrew K; Wisor, Jonathan P; Yamanaka, Akihiro; Kilduff, Thomas S

    2014-05-01

    γ-Hydroxybutyrate (GHB) is an approved therapeutic for the excessive sleepiness and sudden loss of muscle tone (cataplexy) characteristic of narcolepsy. The mechanism of action for these therapeutic effects is hypothesized to be GABAB receptor dependent. We evaluated the effects of chronic administration of GHB and the GABAB agonist R-baclofen (R-BAC) on arousal state and cataplexy in two models of narcolepsy: orexin/ataxin-3 (Atax) and orexin/tTA; TetO diphtheria toxin mice (DTA). Mice were implanted for EEG/EMG monitoring and dosed with GHB (150 mg/kg), R-BAC (2.8 mg/kg), or vehicle (VEH) bid for 15 d-a treatment paradigm designed to model the twice nightly GHB dosing regimen used by human narcoleptics. In both models, R-BAC increased NREM sleep time, intensity, and consolidation during the light period; wake bout duration increased and cataplexy decreased during the subsequent dark period. GHB did not increase NREM sleep consolidation or duration, although NREM delta power increased in the first hour after dosing. Cataplexy decreased from baseline in 57 and 86% of mice after GHB and R-BAC, respectively, whereas cataplexy increased in 79% of the mice after VEH. At the doses tested, R-BAC suppressed cataplexy to a greater extent than GHB. These results suggest utility of R-BAC-based therapeutics for narcolepsy. PMID:24806675

  15. GABAB Agonism Promotes Sleep and Reduces Cataplexy in Murine Narcolepsy

    PubMed Central

    Black, Sarah Wurts; Morairty, Stephen R.; Chen, Tsui-Ming; Leung, Andrew K.; Wisor, Jonathan P.

    2014-01-01

    γ-Hydroxybutyrate (GHB) is an approved therapeutic for the excessive sleepiness and sudden loss of muscle tone (cataplexy) characteristic of narcolepsy. The mechanism of action for these therapeutic effects is hypothesized to be GABAB receptor dependent. We evaluated the effects of chronic administration of GHB and the GABAB agonist R-baclofen (R-BAC) on arousal state and cataplexy in two models of narcolepsy: orexin/ataxin-3 (Atax) and orexin/tTA; TetO diphtheria toxin mice (DTA). Mice were implanted for EEG/EMG monitoring and dosed with GHB (150 mg/kg), R-BAC (2.8 mg/kg), or vehicle (VEH) bid for 15 d–a treatment paradigm designed to model the twice nightly GHB dosing regimen used by human narcoleptics. In both models, R-BAC increased NREM sleep time, intensity, and consolidation during the light period; wake bout duration increased and cataplexy decreased during the subsequent dark period. GHB did not increase NREM sleep consolidation or duration, although NREM delta power increased in the first hour after dosing. Cataplexy decreased from baseline in 57 and 86% of mice after GHB and R-BAC, respectively, whereas cataplexy increased in 79% of the mice after VEH. At the doses tested, R-BAC suppressed cataplexy to a greater extent than GHB. These results suggest utility of R-BAC-based therapeutics for narcolepsy. PMID:24806675

  16. Pediatric radiology

    SciTech Connect

    Silverman, F.N.

    1982-01-01

    A literature review with 186 references of diagnostic pediatric radiology, a speciality restricted to an age group rather than to an organ system or technique of examination, is presented. In the present chapter topics follow the basic organ system divisions with discussions of special techniques within these divisions. The diagnosis of congenital malformations, infectious diseases and neoplasms are a few of the topics discussed for the head and neck region, the vertebrae, the cardiovascular system, the respiratory system, the gastrointestinal tract, the urinary tract, and the skeleton. (KRM)

  17. Psychosis in Patients with Narcolepsy as an Adverse Effect of Sodium Oxybate

    PubMed Central

    Sarkanen, Tomi; Niemelä, Valter; Landtblom, Anne-Marie; Partinen, Markku

    2014-01-01

    Aim: Hypnagogic and hypnopompic hallucinations are characteristic symptoms of narcolepsy, as are excessive daytime sleepiness, cataplexy, and sleep paralysis. Narcolepsy patients may also experience daytime hallucinations unrelated to sleep–wake transitions. The effect of medication on hallucinations is of interest since treatment of narcolepsy may provoke psychotic symptoms. We aim to analyze the relation between sodium oxybate (SXB) treatment and psychotic symptoms in narcolepsy patients. Furthermore, we analyze the characteristics of hallucinations to determine their nature as mainly psychotic or hypnagogic and raise a discussion about whether SXB causes psychosis or if psychosis occurs as an endogenous complication in narcolepsy. Method: We present altogether four patients with narcolepsy who experienced psychotic symptoms during treatment with SXB. In addition, we searched the literature for descriptions of hallucinations in narcolepsy and similarities and differences with psychotic symptoms in schizophrenia. Results: Three out of four patients had hallucinations typical for psychosis and one had symptoms that resembled aggravated hypnagogic hallucinations. Two patients also had delusional symptoms primarily associated with mental disorders. Tapering down SXB was tried and helped in two out of four cases. Adding antipsychotic treatment (risperidone) alleviated psychotic symptoms in two cases. Conclusion: Psychotic symptoms in narcolepsy may appear during SXB treatment. Hallucinations resemble those seen in schizophrenia; however, the insight that symptoms are delusional is usually preserved. In case of SXB-induced psychotic symptoms or hallucinations, reducing SXB dose or adding antipsychotic medication can be tried. PMID:25191304

  18. Complex Movement Disorders at Disease Onset in Childhood Narcolepsy with Cataplexy

    ERIC Educational Resources Information Center

    Plazzi, Giuseppe; Pizza, Fabio; Palaia, Vincenzo; Franceschini, Christian; Poli, Francesca; Moghadam, Keivan K.; Cortelli, Pietro; Nobili, Lino; Bruni, Oliviero; Dauvilliers, Yves; Lin, Ling; Edwards, Mark J.; Mignot, Emmanuel; Bhatia, Kailash P.

    2011-01-01

    Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of…

  19. A survey of steroid-related osteoporosis diagnosis, prevention and treatment practices of pediatric rheumatologists in North America

    PubMed Central

    2014-01-01

    Background The purpose of our study is to assess practices of North American pediatric rheumatologists regarding monitoring, prevention, and treatment of low bone mineral density (BMD) in children on long-term glucocorticoid treatment. Long-term glucocorticoid therapy is associated with accelerated bone loss. Children with JIA and lupus have low baseline BMD and incident vertebral fractures commonly occur in these groups of patients even after a relatively short period of time being on systemic glucocorticoids. There are no established guidelines for identification, prevention, and treatment of glucocorticoid-induced bone loss in children. Methods A cross-sectional online survey was conducted with 199 physicians who were listed in the ACR database as practicing pediatric rheumatology in North America. Results 86 physicians (43%) responded; 87% were board-certified in pediatric rheumatology. 95% used dual energy X-ray absorptiometry as their primary modality for assessing BMD. 79% “rarely” or “never” obtained a baseline BMD measurement prior to initiation of glucocorticoid therapy. 42% of respondents followed BMD annually. 93% “frequently” or “always” prescribed calcium for patients on long-term corticosteroid therapy; 81% “frequently” or “always” prescribed vitamin D. In patients diagnosed with osteoporosis, 35%-50 % of the practitioners “sometimes”, “frequently” or “always” prescribed bisphosphonates. Bisphosphonates are prescribed at similar rates for male and female patients, and slightly more frequently for pubertal than for pre-pubertal patients. 96% of respondents “rarely” or “never” prescribed calcitonin for patients on long-term glucocorticoid therapy; 92% “rarely” or “never” prescribe this medication for patients with known osteopenia or osteoporosis. Conclusions Utilization of DXA in children on long-term corticosteroid therapy varies greatly among North American pediatric rheumatologists. Most

  20. Cerebrospinal fluid and serum cytokine profiles in narcolepsy with cataplexy: a case-control study.

    PubMed

    Dauvilliers, Yves; Jaussent, Isabelle; Lecendreux, Michel; Scholz, Sabine; Bayard, Sophie; Cristol, Jean Paul; Blain, Hubert; Dupuy, Anne-Marie

    2014-03-01

    Recent advances in the identification of susceptibility genes and environmental exposures provide strong support that narcolepsy-cataplexy is an immune-mediated disease. Only few serum cytokine studies with controversial results were performed in narcolepsy and none in the cerebrospinal fluid. We measured a panel of 12 cytokines by a proteomic approach in the serum of 35 patients with narcolepsy-cataplexy compared to 156 healthy controls, and in the cerebrospinal fluid of 34 patients with narcolepsy-cataplexy compared to 17 non-narcoleptic patients; and analyzed the effect of age, duration and severity of disease on the cytokine levels. After multiple adjustments we reported lower serum IL-2, IL-8, TNF-α, MCP-1 and EGF levels, and a tendency for higher IL-4 level in narcolepsy compared to controls. Significant differences were only found for IL-4 in cerebrospinal fluid, being higher in narcolepsy. Positive correlations were found in serum between IL-4, daytime sleepiness, and cataplexy frequency. The expression of some pro-inflammatory cytokines (MCP-1, VEGF, EGF, IL2, IL-1β, IFN-γ) in either serum or CSF was negatively correlated with disease severity and duration. No correlation was found for any specific cytokine in 18 of the patients with narcolepsy with peripheral and central samples collected the same day. Significant decreased pro/anti-inflammatory cytokine profiles were found at peripheral and central levels in narcolepsy, together with a T helper 2/Th1 serum cytokine secretion imbalance. To conclude, we showed some evidence for alterations in the cytokine profile in patients with narcolepsy-cataplexy compared to controls at peripheral and central levels, with the potential role of IL-4 and significant Th1/2 imbalance in the pathophysiology of narcolepsy. PMID:24394344

  1. Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

    PubMed

    Matheus, Maria Gisele; Lehman, Rebecca K; Bonilha, Leonardo; Holden, Kenton R

    2015-10-01

    X-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylate transporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life with neurodevelopment delays but have pleasant dispositions and commonly have elevated serum triiodothyronine. They also have marked axial hypotonia and quadriparesis but surprisingly little spasticity early in their disease course. They do, however, have subtle involuntary movements, most often dystonia. The combination of hypotonia and dystonia presents a neurorehabilitation challenge and explains why spasticity-directed therapies have commonly produced suboptimal responses. Our aim was to better define the spectrum of motor disability and to elucidate the neuroanatomic basis of the motor impairments seen in MCT8 deficiency using clinical observation and brain magnetic resonance imaging (MRI) in a cohort of 6 affected pediatric patients. Our findings identified potential imaging biomarkers and suggest that rehabilitation efforts targeting dystonia may be more beneficial than those targeting spasticity in the prepubertal pediatric MCT8 deficiency population. PMID:25900139

  2. Effects of Time since Diagnosis on the Association between Parent and Child Distress in Families with Pediatric Cancer

    PubMed Central

    Okado, Yuko; Tillery, Rachel; Sharp, Katianne Howard; Long, Alanna M.; Phipps, Sean

    2015-01-01

    Although parental distress and child distress have been linked in families of children with cancer, how these associations change over time is unknown. The present study examined how the amount of time elapsed since the child’s diagnosis moderates the associations between self-reported parent and child symptoms of depression, anxiety, and post-traumatic stress in 255 parent-child dyads. Time since diagnosis moderated the associations between parental symptoms and child-reported anxiety and post-traumatic stress. Dyads farther out from diagnosis exhibited stronger associations between parental and child symptoms. Findings suggest the importance of monitoring the psychological adjustment of parents and children over time.

  3. Impact of cytokine in type 1 narcolepsy: Role of pandemic H1N1 vaccination ?

    PubMed

    Lecendreux, Michel; Libri, Valentina; Jaussent, Isabelle; Mottez, Estelle; Lopez, Régis; Lavault, Sophie; Regnault, Armelle; Arnulf, Isabelle; Dauvilliers, Yves

    2015-06-01

    Recent advances in the identification of susceptibility genes and environmental exposures (pandemic influenza 2009 vaccination) provide strong support that narcolepsy type 1 is an immune-mediated disease. Considering the limited knowledge regarding the immune mechanisms involved in narcolepsy whether related to flu vaccination or not and the recent progresses in cytokine measurement technology, we assessed 30 cytokines, chemokines and growth factors using the Luminex technology in either peripheral (serum) or central (CSF) compartments in a large population of 90 children and adult patients with narcolepsy type 1 in comparison to 58 non-hypocretin deficient hypersomniacs and 41 healthy controls. Furthermore, we compared their levels in patients with narcolepsy whether exposed to pandemic flu vaccine or not, and analyzed the effect of age, duration of disease and symptom severity. Comparison for sera biomarkers between narcolepsy (n = 84, 54 males, median age: 15.5 years old) and healthy controls (n = 41, 13 males, median age: 20 years old) revealed an increased stimulation of the immune system with high release of several pro- and anti-inflammatory serum cytokines and growth factors with interferon-γ, CCL11, epidermal growth factor, and interleukin-2 receptor being independently associated with narcolepsy. Increased levels of interferon-γ, CCL11, and interleukin-12 were found when close to narcolepsy onset. After several adjustments, only one CSF biomarker differed between narcolepsy (n = 44, 26 males, median age: 15 years old) and non-hypocretin deficient hypersomnias (n = 57, 24 males, median age: 36 years old) with higher CCL 3 levels found in narcolepsy. Comparison for sera biomarkers between patients with narcolepsy who developed the disease post-pandemic flu vaccination (n = 36) to those without vaccination (n = 48) revealed an increased stimulation of the immune system with high release of three cytokines, regulated upon activation normal T-cell expressed

  4. Pediatric Diabetes Consortium Type 1 Diabetes (T1D) New Onset (NeOn) Study: Factors Associated with HbA1c Levels One Year after Diagnosis

    PubMed Central

    Redondo, Maria J.; Connor, Crystal G.; Ruedy, Katrina J.; Beck, Roy W.; Kollman, Craig; Wood, Jamie R.; Buckingham, Bruce; Klingensmith, Georgeanna; Silverstein, Janet; Tamborlane, William V.

    2013-01-01

    Objective To identify determinants of HbA1c levels one year after the diagnosis of type 1 diabetes (T1D) in participants in the Pediatric Diabetes Consortium (PDC) T1D New Onset (NeOn) Study. Research Design and Methods Diabetes-specific as well as socioeconomic factors during the first year following diagnosis were analyzed in 857 participants (mean age 9.1 years, 51% female, 66% non-Hispanic White) not participating in an intervention study who had an HbA1c value at 12 months. Results Mean ± SD HbA1c at one year was 62 ± 16 mmol/mol (7.8% ± 1.5). In univariate and multivariate analyses, clinical center, non-Hispanic White race, private health insurance, living with both parents, higher frequency of self-monitoring of blood glucose (SMBG), and lower insulin requirements were associated with lower HbA1c concentrations at one year (p<0.01). No association was found with gender, age, Tanner stage, BMI, DKA at onset, number of positive autoantibodies or HbA1c at onset, or number of visits to diabetes physician during the first year. Conclusions White race, higher socioeconomic status, two-parent household, more frequent SMBG and low insulin requirements are associated with lower HbA1c concentration one year after the onset of T1D in children. PMID:23889707

  5. Pediatric MS

    MedlinePlus

    ... of the oral medications in the pediatric population. Network of Pediatric MS Centers The National MS Society ... MS Study Group (2004) and established a nationwide network of six Pediatric MS Centers of Excellence (2006) ...

  6. Pediatric Injury

    MedlinePlus

    ... common causes, which are 1 , 2 , 3 : Motor vehicle accidents Suffocation (being unable to breathe) Drowning Poisoning ... gov/safechild [top] American Academy of Pediatrics. (2008). Management of pediatric trauma. Pediatrics, 121 , 849–854. [top] ...

  7. Genetic pediatric retinal diseases

    PubMed Central

    Say, Emil Anthony T.

    2014-01-01

    Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vitreous hemorrhage, retinal detachment and cystoid macular edema. Multisystem involvement is frequently seen in hereditary pediatric retinal disease. A thorough history coupled with a good physical examination can oftentimes lead the ophthalmologist or pediatrician to the correct genetic test and correct diagnosis. In some instances, evaluation of parents or siblings may be required to determine familial involvement when the history is inconclusive or insufficient and clinical suspicion is high.

  8. Treatment paradigms for cataplexy in narcolepsy: past, present, and future

    PubMed Central

    Swick, Todd J

    2015-01-01

    Cataplexy is defined as episodes of sudden loss of voluntary muscle tone triggered by emotions generally lasting <2 minutes. Cataplexy is most commonly associated with and considered pathognomonic for narcolepsy, a sleep disorder affecting ~0.05% of the general population. Knowledge of the pathophysiology of cataplexy has advanced through study of canine, murine, and human models. It is now generally considered that loss of signaling by hypothalamic hypocretin/orexin-producing neurons plays a key role in the development of cataplexy. Although the cause of hypocretin/orexin neuron loss in narcolepsy with cataplexy is unknown, an autoimmune etiology is widely hypothesized. Despite these advances, a literature review shows that treatment of cataplexy remains limited. Multiple classes of antidepressants have been commonly used off-label for cataplexy in narcolepsy and are suggested for this use in expert consensus guidelines based on traditional practice, case reports, and small trials. However, systematic research evidence supporting antidepressants for cataplexy is lacking. The single pharmacotherapy indicated for cataplexy and the guideline-recommended first-line treatment in Europe and the US is sodium oxybate, the sodium salt of gamma-hydroxybutyrate. Clinical trial evidence of its efficacy and safety in cataplexy is robust, and it is hypothesized that its therapeutic effects may occur through gamma-aminobutyric acid receptor type B-mediated effects at noradrenergic, dopaminergic, and thalamocortical neurons. Additional possible mechanisms for cataplexy therapy suggested by preliminary research include antagonism of the histamine H3 autoreceptor with pitolisant and intravenous immunoglobulin therapy for amelioration of the presumed autoimmune-mediated hypocretin/orexin cell loss. Further research and development of therapeutic approaches to cataplexy are needed. PMID:26715865

  9. [Pathogenesis of narcolepsy: from HLA association to hypocretin deficiency].

    PubMed

    Klein, G; Burghaus, L; Diederich, N

    2012-11-01

    Narcolepsy is a rare and chronic sleep disorder, characterised by excessive daytime sleepiness. Frequently associated signs are cataplexy, sleep paralysis and hypnagogic or hypnopompic hallucinations. Advances in understanding the pathogenesis of the disease have essentially been elucidated during the last fifteen years. The most significant finding has been the discovery of hypocretin-1 and -2 in 1998. Hypocretin-containing cells have widespread projections throughout the entire CNS and play a crucial role in the regulation of the sleep-wake cycle. They also contribute to olefaction and to the regulation of food intake. Animal models and human studies concordantly show that the disturbed hypocretin system is the probable cause of narcolepsy. However, it remains unclear why there is neuronal death of hypocretin-producing cells in the lateral hypothalamus. As the HLA-allele DQB1*0602 is associated with narcolepsy and hypocretin deficiency, an autoimmune reaction against hypocretin-producing neurons has been vigorously discussed. Newly discovered gene polymorphisms as well as previously unknown pathogenetic mechanisms, linking the sleep-wake cycle with the immune system, may also contribute to the pathogenetic cascade. Worthy of mention in this context is, e.g., the "insulin-like growth factor"-binding protein 3 (IGFBP3), whose overexpression causes a down-regulation of the hypocretin production. Substitution of the deficient neuropeptides by hypocretin agonists may become the causal treatment strategy of the future, if an adequate administration route can be found. Presently, animal trials, including genetic therapy, cell transplantations or the administration of hypocretin receptor agonists, are underway. PMID:22696207

  10. Disorders of Excessive Daytime Sleepiness Including Narcolepsy and Idiopathic Hypersomnia.

    PubMed

    Berkowski, Joseph Andrew; Shelgikar, Anita Valanju

    2016-09-01

    Central disorders of hypersomnolence are rare conditions with a poorly understood pathophysiology, making the identification and management challenging for sleep clinicians. Clinical history is essential for ruling out secondary causes of hypersomnolence and distinguishing among diagnoses. Current diagnostic criteria rely heavily on the polysomnogram and multiple sleep latency test. The current focus of treatment of hypersomnolence is on drugs that promote alertness. Additionally, in the case of narcolepsy type 1, medication management addresses control of cataplexy, the hallmark symptom of this disorder. Elucidation of pathophysiology of these disorders in the future will be essential to better categorization and management. PMID:27542882

  11. Short-term mortality following surgical procedures for the diagnosis of pediatric brain tumors: outcome analysis in 5533 children from SEER, 2004-2011.

    PubMed

    Hankinson, Todd C; Dudley, Roy W R; Torok, Michelle R; Patibandla, Mohana Rao; Dorris, Kathleen; Poonia, Seerat; Wilkinson, C Corbett; Bruny, Jennifer L; Handler, Michael H; Liu, Arthur K

    2016-03-01

    OBJECT Thirty-day mortality is increasingly a reference metric regarding surgical outcomes. Recent data estimate a 30-day mortality rate of 1.4-2.7% after craniotomy for tumors in children. No detailed analysis of short-term mortality following a diagnostic neurosurgical procedure (e.g., resection or tissue biopsy) for tumor in the US pediatric population has been conducted. METHODS The Surveillance, Epidemiology and End Results (SEER) data sets identified patients ≤ 21 years who underwent a diagnostic neurosurgical procedure for primary intracranial tumor from 2004 to 2011. One- and two-month mortality was estimated. Standard statistical methods estimated associations between independent variables and mortality. RESULTS A total of 5533 patients met criteria for inclusion. Death occurred within the calendar month of surgery in 64 patients (1.16%) and by the conclusion of the calendar month following surgery in 95 patients (1.72%). Within the first calendar month, patients < 1 year of age (n = 318) had a risk of death of 5.66%, while those from 1 to 21 years (n = 5215) had a risk of 0.88% (p < 0.0001). By the end of the calendar month following surgery, patients < 1 year (n = 318) had a risk of death of 7.23%, while those from 1 to 21 years (n = 5215) had a risk of 1.38% (p < 0.0001). Children < 1 year at diagnosis were more likely to harbor a high-grade lesion than older children (OR 1.9, 95% CI 1.5-2.4). CONCLUSIONS In the SEER data sets, the risk of death within 30 days of a diagnostic neurosurgical procedure for a primary pediatric brain tumor is between 1.16% and 1.72%, consistent with contemporary data from European populations. The risk of mortality in infants is considerably higher, between 5.66% and 7.23%, and they harbor more aggressive lesions. PMID:26588456

  12. Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.

    PubMed

    Daimi, Houria; Khelil, Amel Haj; Ben Hamda, Khaldoun; Aranega, Amelia; Chibani, Jemni B E; Franco, Diego

    2015-06-01

    Brugada syndrome (BrS) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads. The syndrome is usually detected after puberty. The identification of BrS in pediatric patients is thus a rare occurrence, and most of the reported cases are unmasked after febrile episodes. Usually, having a family history of sudden death represents the first reason to perform an ECG in febrile children. However, this practice makes the sporadic cases of cardiac disease and specially the asymptomatic ones excluded from this diagnosis. Here, we report a sporadic case of a 2-month-old male patient presented with vaccination-related fever and ventricular tachycardia associated with short breathing, palpitation and cold sweating. ECG changes were consistent with type 1 BrS. SCN5A gene analysis of the proband and his family revealed a set of mutations and polymorphisms differentially distributed among family members, however, without any clear genotype-phenotype correlation. Based on our findings, we think that genetic testing should be pursued as a routine practice in symptomatic and asymptomatic pediatric cases of BrS, with or without family history of sudden cardiac death. Similarly, our study suggests that pediatrician should be encouraged to perform an ECG profiling in suspicious febrile children and quickly manage fever since it is the most important factor unmasking BrS in children. PMID:25758664

  13. Benign Pediatric Salivary Gland Lesions.

    PubMed

    Carlson, Eric R; Ord, Robert A

    2016-02-01

    Salivary gland lesions are rare in pediatric patients. In addition, the types of salivary gland tumors are different in their distribution in specific sites in the major and minor salivary glands in children compared with adults. This article reviews benign neoplastic and nonneoplastic salivary gland disorders in pediatric patients to help clinicians to develop an orderly differential diagnosis that will lead to expedient treatment of pediatric patients with salivary gland lesions. PMID:26614702

  14. Central Disorders of Hypersomnolence: Focus on the Narcolepsies and Idiopathic Hypersomnia.

    PubMed

    Khan, Zeeshan; Trotti, Lynn Marie

    2015-07-01

    The central disorders of hypersomnolence are characterized by severe daytime sleepiness, which is present despite normal quality and timing of nocturnal sleep. Recent reclassification distinguishes three main subtypes: narcolepsy type 1, narcolepsy type 2, and idiopathic hypersomnia (IH), which are the focus of this review. Narcolepsy type 1 results from loss of hypothalamic hypocretin neurons, while the pathophysiology underlying narcolepsy type 2 and IH remains to be fully elucidated. Treatment of all three disorders focuses on the management of sleepiness, with additional treatment of cataplexy in those patients with narcolepsy type 1. Sleepiness can be treated with modafinil/armodafinil or sympathomimetic CNS stimulants, which have been shown to be beneficial in randomized controlled trials of narcolepsy and, quite recently, IH. In those patients with narcolepsy type 1, sodium oxybate is effective for the treatment of both sleepiness and cataplexy. Despite these treatments, there remains a subset of hypersomnolent patients with persistent sleepiness, in whom alternate therapies are needed. Emerging treatments for sleepiness include histamine H3 antagonists (eg, pitolisant) and possibly negative allosteric modulators of the gamma-aminobutyric acid-A receptor (eg, clarithromycin and flumazenil). PMID:26149554

  15. Rapid eye movement sleep behavior disorder and rapid eye movement sleep without atonia in narcolepsy.

    PubMed

    Dauvilliers, Yves; Jennum, Poul; Plazzi, Giuseppe

    2013-08-01

    Narcolepsy is a rare disabling hypersomnia disorder that may include cataplexy, sleep paralysis, hypnagogic hallucinations, and sleep-onset rapid eye movement (REM) periods, but also disrupted nighttime sleep by nocturnal awakenings, and REM sleep behavior disorder (RBD). RBD is characterized by dream-enacting behavior and impaired motor inhibition during REM sleep (REM sleep without atonia, RSWA). RBD is commonly associated with neurodegenerative disorders including Parkinsonisms, but is also reported in narcolepsy in up to 60% of patients. RBD in patients with narcolepsy is, however, a distinct phenotype with respect to other RBD patients and characterized also by absence of gender predominance, elementary rather than complex movements, less violent behavior and earlier age at onset of motor events, and strong association to narcolepsy with cataplexy/hypocretin deficiency. Patients with narcolepsy often present dissociated sleep features including RSWA, increased density of phasic chin EMG and frequent shift from REM to NREM sleep, with or without associated clinical RBD. Most patients with narcolepsy with cataplexy lack the hypocretin neurons in the lateral hypothalamus. Tonic and phasic motor activities in REM sleep and dream-enacting behavior are mostly reported in presence of cataplexy. Narcolepsy without cataplexy is a condition rarely associated with hypocretin deficiency. We proposed that hypocretin neurons are centrally involved in motor control during wakefulness and sleep in humans, and that hypocretin deficiency causes a functional defect in the motor control involved in the development of cataplexy during wakefulness and RBD/RSWA/phasic motor activity during REM sleep. PMID:23219054

  16. Incidental Diagnosis of MEN1 Syndrome in a Pediatric Patient Presenting With Obstructive Jaundice and Abdominal Pain

    PubMed Central

    Cengia, Brent; Conway, Jason; Pawa, Rishi

    2016-01-01

    A 16-year-old adolescent boy presented with obstructive jaundice and was incidentally found to have a well-differentiated pancreatic endocrine neoplasm upon endoscopic ultrasound. The discovery of this tumor led to further investigation and the eventual diagnosis of MEN1 syndrome. The diagnosis of MEN1 can prove difficult, and lack of treatment has been shown to lead to early mortality. One must maintain clinical suspicion for this disease in the evaluation of patients presenting with suspicious lesions of unknown etiology, especially those involving the pancreas, anterior pituitary, and parathyroid glands. PMID:27144202

  17. Incidental Diagnosis of MEN1 Syndrome in a Pediatric Patient Presenting With Obstructive Jaundice and Abdominal Pain.

    PubMed

    Jones, Jason D; Cengia, Brent; Conway, Jason; Pawa, Rishi

    2016-04-01

    A 16-year-old adolescent boy presented with obstructive jaundice and was incidentally found to have a well-differentiated pancreatic endocrine neoplasm upon endoscopic ultrasound. The discovery of this tumor led to further investigation and the eventual diagnosis of MEN1 syndrome. The diagnosis of MEN1 can prove difficult, and lack of treatment has been shown to lead to early mortality. One must maintain clinical suspicion for this disease in the evaluation of patients presenting with suspicious lesions of unknown etiology, especially those involving the pancreas, anterior pituitary, and parathyroid glands. PMID:27144202

  18. Genetic studies in narcolepsy, a disorder affecting REM sleep.

    PubMed

    Faraco, J; Lin, X; Li, R; Hinton, L; Lin, L; Mignot, E

    1999-01-01

    Narcolepsy is a disabling sleep disorder characterized by excessive daytime sleepiness and abnormal manifestations of rapid eye movement (REM) sleep including cataplexy, sleep paralysis, and hypnagogic hallucinations. It is known to be a complex disorder, with both genetic predisposition and environmental factors playing a role. In humans, susceptibility to narcolepsy is tightly associated with a specific HLA allele, DQB1*0602. In humans and canines, most cases are sporadic. In Doberman pinschers and Labrador retrievers, however, the disease is transmitted as an autosomal recessive gene canarc-1 with full penetrance. This gene is not linked with the dog leukocyte antigen complex, but is tightly linked with a marker with high homology to the human mu-switch immunoglobulin gene. We have isolated several genomic clones encompassing the canarc-1 marker and the variable heavy chain immunoglobulin region in canines. These have been partially sequenced and have been mapped onto specific dog chromosomes by fluorescence in situ hybridization (FISH). Our results indicate that the mu-switch-like marker is not part of the canine immunoglobulin machinery. We are continuing to extend the genomic contig using a newly developed canine BAC library and attempting to identify the corresponding human region of conserved synteny. PMID:9987919

  19. Non-pharmacological approaches to the treatment of narcolepsy.

    PubMed

    Garma, L; Marchand, F

    1994-12-01

    A way of evaluating the part played by non-drug treatments is to study cases of patients who discontinued stimulant medications but still came back for follow-up visits. Out of 40 patients with narcolepsy-cataplexy, three refused medication because their work was compatible with a regimen of naps (follow-up 1 year), and 10 stopped taking drugs when they could adapt nap therapy to a new life-style (follow-up 6.9 +/- 5 years). Three interrelated levels of non-pharmacological treatments of narcolepsy were examined: 1) Behavioral management, which includes: (A) structured sleep schedules: literature shows that a single long afternoon nap proffered greatest performance benefits in reaction time, significantly increased over a no-nap control condition, with no evidence of sleep inertia. The placement of this nap might yield better results if scheduled 1 hour before that of a normal subject. (B) Dietary factors: little is known about the effects of diet in narcoleptics; however, avoiding simple sugars will improve alertness in some patients. 2) Medical and psychiatric aspects of care. 3) Social factors as an interface between the patients and their environment. PMID:7701208

  20. Educational Preparation of Pediatric Audiologists

    ERIC Educational Resources Information Center

    Roush, Jackson

    2010-01-01

    Pediatric audiologists play a vital role in detection, diagnosis, and intervention for young children with hearing loss and their families. Preparing the next generation of pediatric audiologists necessitates a creative approach that balances the requirements of a broad curriculum with the special skills needed to serve a unique and varied…

  1. Pediatric imaging for the technologist

    SciTech Connect

    Wilmot, D.M.; Sharko, G.A.

    1987-01-01

    This manual provides an accessible store of information on pediatric imaging procedures, with clearly described techniques and instructions. The aim is to simplify the pediatric examination. Extensively illustrated, this work describes in detail correct positioning, radiation protection, and methods of immobilization. The concluding chapters clarify what is required in the final image for accurate diagnosis.

  2. Pediatric maxillary and mandibular tumors.

    PubMed

    Trosman, Samuel J; Krakovitz, Paul R

    2015-02-01

    Pediatric maxillary and mandibular tumors offer considerable challenges to otolaryngologists, oral surgeons, pathologists, and radiologists alike. Because of the close proximity to vital structures, appropriate steps toward a definitive diagnosis and treatment plan are of paramount importance. This article reviews the most common causes of pediatric jaw masses and discusses diagnostic and therapeutic considerations and recommendations. PMID:25442129

  3. Investigation of an association between onset of narcolepsy and vaccination with pandemic influenza vaccine, Ireland April 2009-December 2010.

    PubMed

    O'Flanagan, D; Barret, A S; Foley, M; Cotter, S; Bonner, C; Crowe, C; Lynch, B; Sweeney, B; Johnson, H; McCoy, B; Purcell, E

    2014-01-01

    In 2011, the Irish Medicines Board received reports of onset of narcolepsy following vaccination against influenza A(H1N1)pdm09 with Pandemrix. A national steering committee was convened to examine the association between narcolepsy and pandemic vaccination. We conducted a retrospective population-based cohort study. Narcolepsy cases with onset from 1 April 2009 to 31 December 2010 were identified through active case finding. Narcolepsy history was gathered from medical records. Pandemic vaccination status was obtained from vaccination databases. Two independent experts classified cases using the Brighton case definition. Date of onset was defined as date of first healthcare contact for narcolepsy symptoms. Incidence of narcolepsy in vaccinated and non-vaccinated individuals was compared. Of 32 narcolepsy cases identified, 28 occurred in children/adolescents and for 24 first healthcare contact was between April 2009 and December 2010. Narcolepsy incidence was 5.7 (95% confidence interval (CI): 3.4–8.9) per 100,000 children/adolescents vaccinated with Pandemrix and 0.4 (95% CI: 0.1–1.0) per 100,000 unvaccinated children/adolescents (relative risk: 13.9; absolute attributable risk: 5.3 cases per 100,000 vaccinated children/adolescents). This study confirms the crude association between Pandemrix vaccination and narcolepsy as observed in Finland and Sweden. The vaccine is no longer in use in Ireland. Further studies are needed to explore the immunogenetic mechanism of narcolepsy. PMID:24821121

  4. Current Understanding of BRAF Alterations in Diagnosis, Prognosis, and Therapeutic Targeting in Pediatric Low-Grade Gliomas

    PubMed Central

    Penman, Catherine Louise; Faulkner, Claire; Lowis, Stephen P.; Kurian, Kathreena M.

    2015-01-01

    The mitogen-activated protein kinase (MAPK) pathway is known to play a key role in the initiation and maintenance of many tumors as well as normal development. This often occurs through mutation of the genes encoding RAS and RAF proteins which are involved in signal transduction in this pathway. BRAF is one of three RAF kinases which act as downstream effectors of growth factor signaling leading to cell cycle progression, proliferation, and survival. Initially reported as a point mutation (V600E) in the majority of metastatic melanomas, other alterations in the BRAF gene have now been reported in a variety of human cancers including papillary thyroid cancer, colon carcinomas, hairy cell leukemia, and more recently in gliomas. The identification of oncogenic mutations in the BRAF gene have led to a revolution in the treatment of metastatic melanoma using targeted molecular therapies that affect the MAPK pathway either directly through BRAF inhibition or downstream through inhibition of MEK. This review describes the molecular biology of BRAF in the context of pediatric low-grade gliomas, the role of BRAF as a diagnostic marker, the prognostic implications of BRAF, and evidence for therapeutic targeting of BRAF. PMID:25785246

  5. Advances in pediatrics. Volume 32

    SciTech Connect

    Barness, L.A.

    1985-01-01

    These proceedings collect papers on pediatrics. Topics include: the biological role and clinical implications of taurine; human milk nonprotein nitrogen; monoclonal antibodies in the diagnosis and treatment of childhood diseases; and human immune responses to polysaccharide antigens.

  6. [Spanish Society for Pediatric Infectious Diseases guidelines on tuberculosis in pregnant women and neonates (i): Epidemiology and diagnosis. Congenital tuberculosis].

    PubMed

    Baquero-Artigao, F; Mellado Peña, M J; Del Rosal Rabes, T; Noguera Julián, A; Goncé Mellgren, A; de la Calle Fernández-Miranda, M; Navarro Gómez, M L

    2015-10-01

    Tuberculosis (TB) screening in pregnancy using tuberculin skin test (TST) is recommended in case of symptoms of TB disease, close contact with a patient with infectious TB, or high risk of developing active disease. The new interferon gamma release assay (IGRA) tests are recommended in BCG-vaccinated pregnant women with positive TST and no known risk factors for TB, and in those immunocompromised, with clinical suspicion of TB but negative TST. TB diagnosis is difficult due to the non-specific symptoms, the increased frequency of extrapulmonary disease, the delay in radiological examinations, and the high rate of tuberculin anergy. Neonatal TB can be acquired in utero (congenital TB), or through airborne transmission after delivery (postnatal TB). Congenital TB is extremely rare and does not cause fetal malformations. It may be evident at birth, although it usually presents after the second week of life. In newborns with no family history of TB, the disease should be considered in cases of miliary pneumonia, hepatosplenomegaly with focal lesions, or lymphocytic meningitis with hypoglycorrhachia, especially in those born to immigrants from high TB-burden countries. TST is usually negative, and IGRAs have lower sensitivity than in older children. However, the yield of acid-fast smear and culture is higher, mostly in congenital TB. Molecular diagnosis techniques enable early diagnosis and detection of drug resistance mutations. There is a substantial risk of disseminated disease and death. PMID:25754313

  7. Clinical Value of Assessing Cytokine Levels for the Differential Diagnosis of Bacterial Meningitis in a Pediatric Population

    PubMed Central

    Ye, Qing; Shao, Wen-Xia; Shang, Shi-Qiang; Shen, Hong-Qiang; Chen, Xue-Jun; Tang, Yong-Min; Yu, Yong-Lin; Mao, Jian-Hua

    2016-01-01

    Abstract We performed a prospective observational study to evaluate the utility of measuring inflammatory cytokine levels to discriminate bacterial meningitis from similar common pediatric diseases. Inflammatory cytokine levels and other cerebrospinal fluid (CSF) physicochemical indicators were evaluated in 140 patients who were diagnosed with bacterial meningitis via microbiological culture or PCR assay. The CSF concentrations of interleukin (IL)-6 and IL-10, CSF/blood IL-6 and IL-10 ratios, CSF white blood cell count, and CSF micro total protein were significantly elevated in bacterial meningitis patients compared with healthy children or patients with viral encephalitis, epilepsy, or febrile convulsions (P < 0.001). The area under the curve values for CSF concentrations of IL-6 and IL-10, CSF/blood IL-6 and IL-10 ratios, CSF white blood cell count, and CSF micro total protein to identify bacterial meningitis episodes by receiver-operating characteristic analysis were 0.988, 0.949, 0.995, 0.924, 0.945, and 0.928, respectively. The area under the curve for the combination of CSF IL-6 and CSF/blood IL-6 ratio was larger than that for either parameter alone, and the combination exhibited enhanced specificity and positive predictive value. After effective meningitis treatment, CSF IL-6 levels dropped significantly. These results suggest that CSF IL-6 and CSF/blood IL-6 ratio are good biomarkers in discriminating bacterial meningitis. Evaluating CSF IL-6 and CSF/blood IL-6 ratio in combination can improve diagnostic efficiency. Additionally, CSF IL-6 levels can be used to monitor the effects of bacterial meningitis treatment. PMID:27043692

  8. Diagnosis and management of Transposition of great arteries within a pediatric cardiology network with the aid of telemedicine: A case report from Brazil.

    PubMed

    Galdino, Millena M; Hazin, Sheila Mv; de Araújo, Juliana Ss; Regis, Cláudio T; Rodrigues, Klecida N; Mourato, Felipe A; Mattos, Sandra da Silva

    2016-04-01

    We present a case of a newborn from a remote, underserved area in the inland of Paraíba, a state from Northeast Brazil. She presented with clinical cyanosis at birth. With the aid of telemedicine, a neonatologist under online cardiology supervision performed a screening echocardiogram. The session established the diagnosis of simple transposition of the great vessels in the baby's first few hours of life. During the same telemedicine session, the necessary arrangements for transferal to a larger maternity center took place. The baby was maintained stable on prostaglandins and was subsequently transferred to a tertiary cardiac center in the neighboring State, Pernambuco. She underwent anatomical correction at day 10, presented no surgical or postoperative complications, and was discharged home at the age of 21 days. She is now over three years old and continues her follow-up care mostly at her hometown, with local pediatricians under online supervision by a cardiologist in a virtual outpatient clinic. The establishment of a Pediatric Cardiology Network, with the aid of telemedicine, can produce a major impact on the access to specialized health care for poor regions of developing countries. PMID:26159438

  9. Pediatric Multiple Sclerosis.

    PubMed

    Lee, Ji Y; Chitnis, Tanuja

    2016-04-01

    Pediatric multiple sclerosis (MS) is a chronic inflammatory neurologic disease that is challenging to diagnose and treat. Although there are many clinical parallels between pediatric-onset MS and adult-onset MS, there is also accumulating evidence of distinguishing clinical features that may, in part, arise from development-specific, neuroimmune processes governing MS pathogenesis in children. Here the authors describe the clinical features, diagnosis, and treatment of pediatric MS, with a particular focus on describing clinical features and highlighting new developments that promise a better understanding of pediatric MS pathogenesis. An important task that lies ahead for pediatric neurologists is better understanding the early gene-environment interaction that precipitates the first demyelinating event in pediatric MS. This area is of particular importance for understanding the MS etiology and the natural history of pediatric MS. Such understanding should in turn inform new developments in diagnostic tools, long-term therapies, and much-needed biomarkers. Such biomarkers are not only valuable for defining the disease onset, but also for monitoring both the treatment response and a disease evolution that spans multiple decades in children with MS. PMID:27116721

  10. Levothyroxine Improves Subjective Sleepiness in a Euthyroid Patient with Narcolepsy without Cataplexy

    PubMed Central

    Sobol, Danielle L.; Spector, Andrew R.

    2014-01-01

    Objective: We discuss the use of levothyroxine for excessive daytime sleepiness (EDS) and prolonged nocturnal sleep time in a euthyroid patient with narcolepsy. Methods: After failure of first-line narcolepsy treatments, a 48-year-old female began levothyroxine (25 mcg/day). After 12 weeks of treatment, the patient was evaluated for improvement in total sleep time and subjective daytime sleepiness assessed by Epworth Sleepiness Scale (ESS). Results: At baseline, ESS score was 16 and total sleep time averaged 16 h/day. After 12 weeks, ESS was 13 and reported total sleep time was 13 h/day. Conclusions: Levothyroxine improved EDS and total sleep time in a euthyroid patient with narcolepsy without cataplexy after 12 weeks without side effects. Citation: Sobol DL, Spector AR. Levothyroxine improves subjective sleepiness in a euthyroid patient with narcolepsy without cataplexy. J Clin Sleep Med 2014;10(11):1231-1232. PMID:25325591

  11. Pediatric tracheomalacia.

    PubMed

    Fraga, Jose Carlos; Jennings, Russell W; Kim, Peter C W

    2016-06-01

    Tracheomalacia (TM) is defined as an increased collapsibility of the trachea due to structural anomalies of the tracheal cartilage and/or posterior membrane. Tracheomalacia has a wide range of etiologies but is most commonly present in children born with esophageal atresia and tracheal esophageal fistula. Clinical symptoms can range from minor expiratory stridor with typical barking cough to severe respiratory distress episodes to acute life-threatening events (ALTE). Although the majority of children have mild-to-moderate symptoms and will not need surgical intervention, some will need life-changing surgical treatment. This article examines the published pediatric literature on TM, discusses the details of clinical presentation, evaluation, diagnosis, and a variety of treatments. PMID:27301602

  12. Imaging Pediatric Vascular Lesions.

    PubMed

    Nguyen, Tuyet A; Krakowski, Andrew C; Naheedy, John H; Kruk, Peter G; Friedlander, Sheila Fallon

    2015-12-01

    Vascular anomalies are commonly encountered in pediatric and dermatology practices. Most of these lesions are benign and easy to diagnose based on history and clinical exam alone. However, in some cases the diagnosis may not be clear. This may be of particular concern given that vascular anomalies may occasionally be associated with an underlying syndrome, congenital disease, or serious, life-threatening condition. Defining the type of vascular lesion early and correctly is particularly important to determine the optimal approach to management and treatment of each patient. The care of pediatric patients often requires collaboration from a multitude of specialties including pediatrics, dermatology, plastic surgery, radiology, ophthalmology, and neurology. Although early characterization of vascular lesions is important, consensus guidelines regarding the evaluation and imaging of vascular anomalies does not exist to date. Here, the authors provide an overview of pediatric vascular lesions, current classification systems for characterizing these lesions, the various imaging modalities available, and recommendations for appropriate imaging evaluation. PMID:26705446

  13. Imaging Pediatric Vascular Lesions

    PubMed Central

    Nguyen, Tuyet A.; Krakowski, Andrew C.; Naheedy, John H.; Kruk, Peter G.

    2015-01-01

    Vascular anomalies are commonly encountered in pediatric and dermatology practices. Most of these lesions are benign and easy to diagnose based on history and clinical exam alone. However, in some cases the diagnosis may not be clear. This may be of particular concern given that vascular anomalies may occasionally be associated with an underlying syndrome, congenital disease, or serious, life-threatening condition. Defining the type of vascular lesion early and correctly is particularly important to determine the optimal approach to management and treatment of each patient. The care of pediatric patients often requires collaboration from a multitude of specialties including pediatrics, dermatology, plastic surgery, radiology, ophthalmology, and neurology. Although early characterization of vascular lesions is important, consensus guidelines regarding the evaluation and imaging of vascular anomalies does not exist to date. Here, the authors provide an overview of pediatric vascular lesions, current classification systems for characterizing these lesions, the various imaging modalities available, and recommendations for appropriate imaging evaluation. PMID:26705446

  14. [Diagnosis of pediatric multiple sclerosis initially presenting with tumefactive demyelinating lesion using ¹H-magnetic resonance spectroscopy].

    PubMed

    Kageyama, Takashi; Gotoh, Yoko; Sano, Fumie; Katoh, Takeo; Nambu, Mituhiko; Okada, Tsutomu; Suenaga, Toshihiko

    2011-09-01

    We report a case of tumefactive demyelinating lesion (TDL) diagnosed using (1)H-magnetic resonance spectroscopy (¹H-MRS) and conventional magnetic resonance imaging (MRI). A 7-year-old girl was admitted to our hospital with complaints of sleepiness and clumsiness of the right limbs. Neurological examination showed somnolence, right-sided apraxia, and hemiparesis with enhanced tendon reflexes and Babinski sign. Conventional brain MRI revealed extensive hyperintensity in the subcortical white matter of the left frontal lobe in both T₂ weighted and fluid attenuated inversion recovery images. Gadolinium-enhanced T₁ weighted images showed a tumor-like lesion in this area with interrupted rim enhancement, termed open ring sign, and a periventricular lesion along the inferior horn of the right lateral ventricle and a juxtacortical lesion under the right motor cortex. In ¹H-MRS, both single voxel spectroscopy (SVS) and chemical shift imaging showed elevation of choline and reduction of N-acetylaspartate in the left frontal lobe lesion. Furthermore, SVS with a short echo time revealed elevated peaks for glutamate/glutamine complex in this lesion. These results suggested the demyelinating nature of this tumor-like lesion, in accordance with the concept of TDL. Based on this diagnosis, we treated the patient with three sets of methylprednisolone pulse therapy, which resulted in the reduction of TDL and neurological improvement. A follow-up study using MRI also demonstrated two more lesions in the corona radiata and internal capsule of the left hemisphere, supporting a diagnosis of multiple sclerosis based on the revised McDonald's criteria (2010). We concluded that ¹H-MRS may be beneficial in the differential diagnosis of TDL. PMID:21946426

  15. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy.

    PubMed

    Plazzi, Giuseppe; Pizza, Fabio; Palaia, Vincenzo; Franceschini, Christian; Poli, Francesca; Moghadam, Keivan K; Cortelli, Pietro; Nobili, Lino; Bruni, Oliviero; Dauvilliers, Yves; Lin, Ling; Edwards, Mark J; Mignot, Emmanuel; Bhatia, Kailash P

    2011-12-01

    Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of hypocretin-producing neurons in the hypothalamus of likely autoimmune aetiology. Noting that children with narcolepsy often display complex abnormal motor behaviours close to disease onset that do not meet the classical definition of cataplexy, we systematically analysed motor features in 39 children with narcolepsy with cataplexy in comparison with 25 age- and sex-matched healthy controls. We found that patients with narcolepsy with cataplexy displayed a complex array of 'negative' (hypotonia) and 'active' (ranging from perioral movements to dyskinetic-dystonic movements or stereotypies) motor disturbances. 'Active' and 'negative' motor scores correlated positively with the presence of hypotonic features at neurological examination and negatively with disease duration, whereas 'negative' motor scores also correlated negatively with age at disease onset. These observations suggest that paediatric narcolepsy with cataplexy often co-occurs with a complex movement disorder at disease onset, a phenomenon that may vanish later in the course of the disease. Further studies are warranted to assess clinical course and whether the associated movement disorder is also caused by hypocretin deficiency or by additional neurochemical abnormalities. PMID:21930661

  16. Increased serum brain-derived neurotrophic factor (BDNF) levels in patients with narcolepsy.

    PubMed

    Klein, Anders B; Jennum, Poul; Knudsen, Stine; Gammeltoft, Steen; Mikkelsen, Jens D

    2013-06-01

    Narcolepsy is a lifelong sleep disorder characterized by excessive daytime sleepiness, sudden loss of muscle tone (cataplexy), fragmentation of nocturnal sleep and sleep paralysis. The symptoms of the disease strongly correlate with a reduction in hypocretin levels in CSF and a reduction in hypocretin neurons in hypothalamus in post-mortem tissue. Brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) are important for activity-dependent neuronal function and synaptic modulation and it is considered that these mechanisms are important in sleep regulation. We hypothesized that serum levels of these factors are altered in patients with narcolepsy compared to healthy controls without sleep disturbances. Polysomnography data was obtained and serum BDNF and NGF levels measured using ELISA, while hypocretin was measured using RIA. Serum BDNF levels were significantly higher in narcolepsy patients than in healthy controls (64.2±3.9 ng/ml vs. 47.3±2.6 ng/ml, P<0.01), while there were no significant differences in NGF levels. As expected, narcolepsy patients had higher BMI compared to controls, but BMI did not correlate with the serum BDNF levels. The change in BDNF levels was not related to disease duration and sleep parameters did not correlate with BDNF in narcolepsy patients. The mechanisms behind the marked increase in BDNF levels in narcolepsy patients remain unknown. PMID:23570723

  17. Smoking, Alcohol, Drug Use, Abuse and Dependence in Narcolepsy and Idiopathic Hypersomnia: A Case-Control Study

    PubMed Central

    Barateau, Lucie; Jaussent, Isabelle; Lopez, Régis; Boutrel, Benjamin; Leu-Semenescu, Smaranda; Arnulf, Isabelle; Dauvilliers, Yves

    2016-01-01

    Study Objectives: Basic experiments support the impact of hypocretin on hyperarousal and motivated state required for increasing drug craving. Our aim was to assess the frequencies of smoking, alcohol and drug use, abuse and dependence in narcolepsy type 1 (NT1, hypocretin-deficient), narcolepsy type 2 (NT2), idiopathic hypersomnia (IH) (non-hypocretin-deficient conditions), in comparison to controls. We hypothesized that NT1 patients would be less vulnerable to drug abuse and addiction compared to other hypersomniac patients and controls from general population. Methods: We performed a cross-sectional study in French reference centres for rare hypersomnia diseases and included 450 adult patients (median age 35 years; 41.3% men) with NT1 (n = 243), NT2 (n = 116), IH (n = 91), and 710 adult controls. All participants were evaluated for alcohol consumption, smoking habits, and substance (alcohol and illicit drug) abuse and dependence diagnosis during the past year using the Mini International Neuropsychiatric Interview. Results: An increased proportion of both tobacco and heavy tobacco smokers was found in NT1 compared to controls and other hypersomniacs, despite adjustments for potential confounders. We reported an increased regular and frequent alcohol drinking habit in NT1 versus controls but not compared to other hypersomniacs in adjusted models. In contrast, heavy drinkers were significantly reduced in NT1 versus controls but not compared to other hypersomniacs. The proportion of patients with excessive drug use (codeine, cocaine, and cannabis), substance dependence, or abuse was low in all subgroups, without significant differences between either hypersomnia disorder categories or compared with controls. Conclusions: We first described a low frequency of illicit drug use, dependence, or abuse in patients with central hypersomnia, whether Hcrt-deficient or not, and whether drug-free or medicated, in the same range as in controls. Conversely, heavy drinkers were

  18. Occam's razor in the management of ventriculoperitoneal shunt dysfunction: Diagnosis and management of an unusual pediatric case.

    PubMed

    Dadlani, Ravi; Dadlani, Reena; Ghosal, Nandita; Hegde, Alangar

    2015-01-01

    Ventriculoperitoneal (VP) shunt surgery is probably the commonest surgical procedure in neurosurgery. Belying its technical simplicity is the myriad complications associated with it. Shunt malfunction is a common complication associated with this surgery, second only to shunt related infections, which may be associated with it. Sterile cerebrospinal fluid (CSF) eosinophilia (CE) has been reported with VP shunts, which may or may not be related to the dysfunction. Eosinophilia in the CSF has also been associated with a number of other conditions including parasitic infestations in the brain. This may be unrelated to the shunt surgery. We present a case of a child, operated earlier for hydrocephalus, who presented with sub-acute loss of vision and bilateral oculomotor paresis. CSF from a chamber tap revealed eosinophilia. The commonest presenting symptom of shunt malfunction is raised intracranial pressure. There are no reports in the literature of VP shunt malfunction presenting with bilateral oculomotor paresis and decreased visual acuity. The associated CE complicated the clinical picture, especially since the initial brain radiology was normal. We discuss the clinical differential diagnosis of this very interesting presentation, management dilemmas and outcome in this child. This rare clinical presentation was found to be the result of a shunt malfunction and not due to any rare parasitic infestation of the brain. Occam's razor dictates that the simplest explanation in a given situation is usually the most accurate, as is seen in this case. PMID:25972962

  19. An optimal set of landmarks for metopic craniosynostosis diagnosis from shape analysis of pediatric CT scans of the head

    NASA Astrophysics Data System (ADS)

    Mendoza, Carlos S.; Safdar, Nabile; Myers, Emmarie; Kittisarapong, Tanakorn; Rogers, Gary F.; Linguraru, Marius George

    2013-02-01

    Craniosynostosis (premature fusion of skull sutures) is a severe condition present in one of every 2000 newborns. Metopic craniosynostosis, accounting for 20-27% of cases, is diagnosed qualitatively in terms of skull shape abnormality, a subjective call of the surgeon. In this paper we introduce a new quantitative diagnostic feature for metopic craniosynostosis derived optimally from shape analysis of CT scans of the skull. We built a robust shape analysis pipeline that is capable of obtaining local shape differences in comparison to normal anatomy. Spatial normalization using 7-degree-of-freedom registration of the base of the skull is followed by a novel bone labeling strategy based on graph-cuts according to labeling priors. The statistical shape model built from 94 normal subjects allows matching a patient's anatomy to its most similar normal subject. Subsequently, the computation of local malformations from a normal subject allows characterization of the points of maximum malformation on each of the frontal bones adjacent to the metopic suture, and on the suture itself. Our results show that the malformations at these locations vary significantly (p<0.001) between abnormal/normal subjects and that an accurate diagnosis can be achieved using linear regression from these automatic measurements with an area under the curve for the receiver operating characteristic of 0.97.

  20. Pediatric Cardiomyopathies

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Pediatric Cardiomyopathies Updated:Oct 22,2015 Patient education material ... oxygen or high blood pressure. According to the Pediatric Cardiomyopathy Registry, one in every 100,000 children ...

  1. Myocarditis - pediatric

    MedlinePlus

    Pediatric myocarditis is inflammation of the heart muscle in an infant or young child. ... infections such as Lyme disease. Other causes of pediatric myocarditis include: Allergic reactions to certain medicines Exposure ...

  2. Histamine Transmission Modulates the Phenotype of Murine Narcolepsy Caused by Orexin Neuron Deficiency.

    PubMed

    Bastianini, Stefano; Silvani, Alessandro; Berteotti, Chiara; Lo Martire, Viviana; Cohen, Gary; Ohtsu, Hiroshi; Lin, Jian-Sheng; Zoccoli, Giovanna

    2015-01-01

    Narcolepsy type 1 is associated with loss of orexin neurons, sleep-wake derangements, cataplexy, and a wide spectrum of alterations in other physiological functions, including energy balance, cardiovascular, and respiratory control. It is unclear which narcolepsy signs are directly related to the lack of orexin neurons or are instead modulated by dysfunction of other neurotransmitter systems physiologically controlled by orexin neurons, such as the histamine system. To address this question, we tested whether some of narcolepsy signs would be detected in mice lacking histamine signaling (HDC-KO). Moreover, we studied double-mutant mice lacking both histamine signaling and orexin neurons (DM) to evaluate whether the absence of histamine signaling would modulate narcolepsy symptoms produced by orexin deficiency. Mice were instrumented with electrodes for recording the electroencephalogram and electromyogram and a telemetric arterial pressure transducer. Sleep attacks fragmenting wakefulness, cataplexy, excess rapid-eye-movement sleep (R) during the activity period, and enhanced increase of arterial pressure during R, which are hallmarks of narcolepsy in mice, did not occur in HDC-KO, whereas they were observed in DM mice. Thus, these narcolepsy signs are neither caused nor abrogated by the absence of histamine. Conversely, the lack of histamine produced obesity in HDC-KO and to a greater extent also in DM. Moreover, the regularity of breath duration during R was significantly increased in either HDC-KO or DM relative to that in congenic wild-type mice. Defects of histamine transmission may thus modulate the metabolic and respiratory phenotype of murine narcolepsy. PMID:26474479

  3. Neuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03 Vaccination

    PubMed Central

    Thebault, Simon; Waters, Patrick; Snape, Matthew D.; Cottrell, Dominic; Darin, Niklas; Hallböök, Tove; Huutoniemi, Anne; Partinen, Markku; Pollard, Andrew J.; Vincent, Angela

    2015-01-01

    Type 1 narcolepsy is caused by deficiency of hypothalamic orexin/hypocretin. An autoimmune basis is suspected, but no specific antibodies, either causative or as biomarkers, have been identified. However, the AS03 adjuvanted split virion H1N1 (H1N1-AS03) vaccine, created to protect against the 2009 Pandemic, has been implicated as a trigger of narcolepsy particularly in children. Sera and CSFs from 13 H1N1-AS03-vaccinated patients (12 children, 1 young adult) with type 1 narcolepsy were tested for autoantibodies to known neuronal antigens including the N-methyl-D-aspartate receptor (NMDAR) and contactin-associated protein 2 (CASPR2), both associated with encephalopathies that include disordered sleep, to rodent brain tissue including the lateral hypothalamus, and to live hippocampal neurons in culture. When sufficient sample was available, CSF levels of melanin-concentrating hormone (MCH) were measured. Sera from 44 H1N1-ASO3-vaccinated children without narcolepsy were also examined. None of these patients’ CSFs or sera was positive for NMDAR or CASPR2 antibodies or binding to neurons; 4/13 sera bound to orexin-neurons in rat brain tissue, but also to other neurons. MCH levels were a marginally raised (n = 8; p = 0.054) in orexin-deficient narcolepsy patients compared with orexin-normal children (n = 6). In the 44 H1N1-AS03-vaccinated healthy children, there was no rise in total IgG levels or in CASPR2 or NMDAR antibodies three weeks following vaccination. In conclusion, there were no narcolepsy-specific autoantibodies identified in type 1 narcolepsy sera or CSFs, and no evidence for a general increase in immune reactivity following H1N1-AS03 vaccination in the healthy children. Antibodies to other neuronal specific membrane targets, with their potential for directing use of immunotherapies, are still an important goal for future research. PMID:26090827

  4. Demographic, clinical, and polysomnographic features in patients with narcolepsy: an experience of 181 patients with narcolepsy from a Turkish sleep center.

    PubMed

    Erdem, Murat; Oz, Oguzhan; Balikci, Adem; Yucel, Mehmet; Alper, Mustafa; Akgun, Hakan; Ozgen, Fuat

    2012-06-01

    The present study was designed to describe the socio-demographic, clinical, and polysomnographic features of patients diagnosed with narcolepsy in our sleep center. This retrospective cross-sectional study was conducted on 181 patients diagnosed with narcolepsy based on the results of clinical evaluation, polysomnography (PSG), and multiple sleep latency test (MSLT) between 1993 and 2009. Approximately 70% of the patients had cataplexy, whereas 42% had hallucinations and 55.8% had sleep paralysis. Although sleep efficiency was higher (91.28 ± 5.89%) in patients with narcolepsy, they woke frequently during the night, and their percentages of deep sleep were low (stage 3, 5.12 ± 3.08%, stage 4, 9.60 ± 7.10%). Our study group was divided into two based on age: individuals aged <30 years (n = 152) and >30 years (n = 29). REM latency on PSG was shorter (t = 2.96, p = 0.004) and sleep onset REM (SOREM) on MSLT was higher (t = 2.56, p = 0.011) in the older group than in the younger group. Cataplexy is seen in most patients with narcolepsy. In older patients, REM latency on PSG is shorter and the number of SOREM on MSLT is higher. PMID:22426681

  5. Pediatric nuclear medicine

    SciTech Connect

    Not Available

    1986-01-01

    This symposium presented the latest techniques and approaches to the proper medical application of radionuclides in pediatrics. An expert faculty, comprised of specialists in the field of pediatric nuclear medicine, discussed the major indications as well as the advantages and potential hazards of nuclear medicine procedures compared to other diagnostic modalities. In recent years, newer radiopharmaceuticals labeled with technetium-99m and other short-lived radionuclides with relatively favorable radiation characteristics have permitted a variety of diagnostic studies that are very useful clinically and carry a substantially lower radiation burden then many comparable X-ray studies. This new battery of nuclear medicine procedures is now widely available for diagnosis and management of pediatric patients. Many recent research studies in children have yielded data concerning the effacacy of these procedures, and current recommendations will be presented by those involved in conducting such studies. Individual papers are processed separately for the Energy Data Base.

  6. Orexin/Hypocretin System: Obesity, Narcolepsy and Beyond.

    PubMed

    Kwok, Ernest H.; Dun, Nae J.

    2002-04-01

    Obesity is an epidemic that has plagued industrialized nations for decades. However, before effective treatments can be implemented, the pathways and transmitters involved in appetite and food-seeking behavior must first be resolved. Food-seeking behavior involves the integration of three separate systems: appetite, wakefulness and an increase in sympathetic activity. The recent discovery of two hypothalamic peptides, orexin A/hypocretin 1 and orexin B/hypocretin 2, found exclusively in the lateral hypothalamus, may lead to a better understanding of how the integration of these three systems involved in appetite are modulated through a common neurotransmitter. Two known receptors, OX(1)R and OX(2)R, have been reported and are expressed throughout the entire neuraxis. The physiological role of orexin/hypocretin relative to food intake, sleep-wake cycling and autonomic activity has emerged in both animals and humans. The increased understanding of the orexin system has directed attention to the development of novel chemicals acting on orexin receptors as potential targets for obesity, narcolepsy and cardiovascular disease. (c) 2002 Prous Science. All rights reserved. PMID:12677259

  7. Imaging of Pediatric Stroke.

    PubMed

    Bhatia, Aashim; Pruthi, Sumit

    2016-09-01

    Despite being as common as brain tumors in children, lack of awareness of pediatric stroke presents unique challenges, both in terms of diagnosis and management. Due to diverse and overlapping risk factors, as well as variable clinical presentations, the diagnosis can be either missed or frequently delayed. Early recognition and treatment of pediatric stroke is however critical in optimizing long-term functional outcomes, reducing morbidity and mortality, and preventing recurrent stroke. Neuroimaging plays a vital role in achieving this goal. The advancements in imaging over the last two decades have allowed for multiple modality options for suspected stroke with more accurate diagnosis, as well as quicker turnaround time in imaging diagnosis, especially at primary stroke centers. However, with the multiple imaging possibilities, referring physicians can be overwhelmed with the best option for each clinical situation and what the literature recommends. Here the authors review the etiology of pediatric stroke in the settings of arterial ischemia, hemorrhage, and cerebral sinovenous thrombosis (CSVT), with emphasis on the best diagnostic tools available, including advanced imaging techniques. PMID:26920396

  8. A Case of REM Sleep Behavior Disorder, Narcolepsy-Cataplexy, Parkinsonism, and Rheumatoid Arthritis

    PubMed Central

    Cosentino, Filomena I. I.; Distefano, Angela; Plazzi, Giuseppe; Schenck, Carlos H.

    2014-01-01

    A patient is reported in whom signs and symptoms of REM sleep behavior disorder (RBD) and narcolepsy have been associated for almost two decades with a late development of parkinsonism and rheumatoid arthritis. A 78-year-old male patient in whom RBD was first diagnosed was followed-up by clinical examination, video-polysomnography, multiple sleep latency test, cerebral magnetic resonance imaging, and dopamine transporter imaging by single-photon emission computerized tomography. The patient was found to present for almost two decades, in addition to RBD, also narcolepsy. Moreover, a late development of parkinsonism and the occurrence of rheumatoid arthritis were detected and clinically and instrumentally characterized. Patients predisposed to RBD and later parkinsonism might be susceptible to a variety of triggers that, in our patient, might have been represented by a possible latent autoimmune process leading to the development of narcolepsy with cataplexy and rheumatoid arthritis, later. PMID:24825961

  9. A polymorphism in CCR1/CCR3 is associated with narcolepsy.

    PubMed

    Toyoda, Hiromi; Miyagawa, Taku; Koike, Asako; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Imai, Makoto; Fujimura, Yota; Tamura, Yoshiyuki; Ikegami, Azusa; Wada, Yamato; Moriya, Shunpei; Furuya, Hirokazu; Takeuchi, Masaki; Kirino, Yohei; Meguro, Akira; Remmers, Elaine F; Kawamura, Yoshiya; Otowa, Takeshi; Miyashita, Akinori; Kashiwase, Koichi; Khor, Seik-Soon; Yamasaki, Maria; Kuwano, Ryozo; Sasaki, Tsukasa; Ishigooka, Jun; Kuroda, Kenji; Kume, Kazuhiko; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Hirata, Koichi; Mizuki, Nobuhisa; Uchimura, Naohisa; Shimizu, Tetsuo; Inoue, Yuichi; Honda, Yutaka; Mishima, Kazuo; Honda, Makoto; Tokunaga, Katsushi

    2015-10-01

    Etiology of narcolepsy-cataplexy involves multiple genetic and environmental factors. While the human leukocyte antigen (HLA)-DRB1*15:01-DQB1*06:02 haplotype is strongly associated with narcolepsy, it is not sufficient for disease development. To identify additional, non-HLA susceptibility genes, we conducted a genome-wide association study (GWAS) using Japanese samples. An initial sample set comprising 409 cases and 1562 controls was used for the GWAS of 525,196 single nucleotide polymorphisms (SNPs) located outside the HLA region. An independent sample set comprising 240 cases and 869 controls was then genotyped at 37 SNPs identified in the GWAS. We found that narcolepsy was associated with a SNP in the promoter region of chemokine (C-C motif) receptor 1 (CCR1) (rs3181077, P=1.6×10(-5), odds ratio [OR]=1.86). This rs3181077 association was replicated with the independent sample set (P=0.032, OR=1.36). We measured mRNA levels of candidate genes in peripheral blood samples of 38 cases and 37 controls. CCR1 and CCR3 mRNA levels were significantly lower in patients than in healthy controls, and CCR1 mRNA levels were associated with rs3181077 genotypes. In vitro chemotaxis assays were also performed to measure monocyte migration. We observed that monocytes from carriers of the rs3181077 risk allele had lower migration indices with a CCR1 ligand. CCR1 and CCR3 are newly discovered susceptibility genes for narcolepsy. These results highlight the potential role of CCR genes in narcolepsy and support the hypothesis that patients with narcolepsy have impaired immune function. PMID:25986216

  10. Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity

    PubMed Central

    Tafti, Mehdi; Lammers, Gert J.; Dauvilliers, Yves; Overeem, Sebastiaan; Mayer, Geert; Nowak, Jacek; Pfister, Corinne; Dubois, Valérie; Eliaou, Jean-François; Eberhard, Hans-Peter; Liblau, Roland; Wierzbicka, Aleksandra; Geisler, Peter; Bassetti, Claudio L.; Mathis, Johannes; Lecendreux, Michel; Khatami, Ramin; Heinzer, Raphaël; Haba-Rubio, José; Feketeova, Eva; Baumann, Christian R.; Kutalik, Zoltán; Tiercy, Jean-Marie

    2016-01-01

    Study Objectives: Narcolepsy with cataplexy is tightly associated with the HLA class II allele DQB1*06:02. Evidence indicates a complex contribution of HLA class II genes to narcolepsy susceptibility with a recent independent association with HLA-DPB1. The cause of narcolepsy is supposed be an autoimmune attack against hypocretin-producing neurons. Despite the strong association with HLA class II, there is no evidence for CD4+ T-cell-mediated mechanism in narcolepsy. Since neurons express class I and not class II molecules, the final effector immune cells involved might include class I-restricted CD8+ T-cells. Methods: HLA class I (A, B, and C) and II (DQB1) genotypes were analyzed in 944 European narcolepsy with cataplexy patients and in 4,043 control subjects matched by country of origin. All patients and controls were DQB1*06:02 positive and class I associations were conditioned on DQB1 alleles. Results: HLA-A*11:01 (OR = 1.49 [1.18–1.87] P = 7.0*10−4), C*04:01 (OR = 1.34 [1.10–1.63] P = 3.23*10−3), and B*35:01 (OR = 1.46 [1.13–1.89] P = 3.64*10−3) were associated with susceptibility to narcolepsy. Analysis of polymorphic class I amino-acids revealed even stronger associations with key antigen-binding residues HLA-A-Tyr9 (OR = 1.32 [1.15–1.52] P = 6.95*10−5) and HLA-C-Ser11 (OR = 1.34 [1.15–1.57] P = 2.43*10−4). Conclusions: Our findings provide a genetic basis for increased susceptibility to infectious factors or an immune cytotoxic mechanism in narcolepsy, potentially targeting hypocretin neurons. Citation: Tafti M, Lammers GJ, Dauvilliers Y, Overeem S, Mayer G, Nowak J, Pfister C, Dubois V, Eliaou JF, Eberhard HP, Liblau R, Wierzbicka A, Geisler P, Bassetti CL, Mathis J, Lecendreux M, Khatami R, Heinzer R, Haba-Rubio J, Feketeova E, Baumann CR, Kutalik Z, Tiercy JM. Narcolepsy-associated HLA class I alleles implicate cell-mediated cytotoxicity. SLEEP 2016;39(3):581–587. PMID:26518595

  11. Year in Review 2015: Pediatric ARDS.

    PubMed

    Cheifetz, Ira M

    2016-07-01

    Led by the work of the Pediatric Acute Lung Injury Consensus Conference, much was published on the topic of pediatric ARDS in 2015. Although the availability of definitive data to the pediatric practitioner for the management of infants and children with pediatric ARDS continues to lag behind that for the adult clinician, 2015 augmented the available medical literature with more information than had been seen for years. This article will review key pediatric ARDS publications with a focus on the Pediatric Acute Lung Injury Consensus Conference consensus definition, sedation management, use of high-frequency oscillatory ventilation, diagnosis of delirium, noninvasive respiratory support, lung-protective ventilation, and adjunct management therapies. Despite the recent progress, additional investigation in each of these areas is essential to the continued advancement of our knowledge and, more importantly, improvements in the outcome for pediatric patients with ARDS. PMID:27381701

  12. Pediatric genetic ocular tumors

    PubMed Central

    Rouhani, Behnaz; Ramasubramanian, Aparna

    2014-01-01

    Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%. It is transmitted as an autosomal dominant fashion and hence the offsprings of all patients with the germline retinoblastoma need to be screened from birth. This review discusses the various pediatric genetic ocular tumors discussing the clinical manifestation, diagnosis and treatment.

  13. Pediatric Respiratory Emergencies.

    PubMed

    Richards, Amber M

    2016-02-01

    Respiratory emergencies are 1 of the most common reasons parents seek evaluation for the their children in the emergency department (ED) each year, and respiratory failure is the most common cause of cardiopulmonary arrest in pediatric patients. Whereas many respiratory illnesses are mild and self-limiting, others are life threatening and require prompt diagnosis and management. Therefore, it is imperative that emergency clinicians be able to promptly recognize and manage these illnesses. This article reviews ED diagnosis and management of foreign body aspiration, asthma exacerbation, epiglottitis, bronchiolitis, community-acquired pneumonia, and pertussis. PMID:26614243

  14. The Psychosocial Problems of Children with Narcolepsy and Those with Excessive Daytime Sleepiness of Uncertain Origin

    ERIC Educational Resources Information Center

    Stores, Gregory; Montgomery, Paul; Wiggs, Luci

    2007-01-01

    Background: Narcolepsy is a predominantly rapid eye movement sleep disorder with onset usually in the second decade but often in earlier childhood. Classically it is characterized by combinations of excessive sleepiness especially sleep attacks, cataplexy, hypnagogic hallucinations, and sleep paralysis. The psychosocial effects of this lifelong…

  15. Imaging of the pediatric urinary system

    SciTech Connect

    Slovis, T.L.; Sty, J.R.; Haller, J.O.

    1987-01-01

    This book presents pediatric uroradiography, with various imaging modalities discussed separately. It includes CT and MRI and discusses the most recent developments in nuclear medicine - often used in children - emphasizing methods to be used for optimum diagnosis.

  16. White matter alterations in narcolepsy patients with cataplexy: tract-based spatial statistics.

    PubMed

    Park, Yun K; Kwon, Oh-Hun; Joo, Eun Yeon; Kim, Jae-Hun; Lee, Jong M; Kim, Sung T; Hong, Seung B

    2016-04-01

    Functional imaging studies and voxel-based morphometry analysis of brain magnetic resonance imaging showed abnormalities in the hypothalamus-thalamus-orbitofrontal pathway, demonstrating altered hypocretin pathway in narcolepsy. Those distinct morphometric changes account for problems in wake-sleep control, attention and memory. It also raised the necessity to evaluate white matter changes. To investigate brain white matter alterations in drug-naïve narcolepsy patients with cataplexy and to explore relationships between white matter changes and patient clinical characteristics, drug-naïve narcolepsy patients with cataplexy (n = 22) and healthy age- and gender-matched controls (n = 26) were studied. Fractional anisotropy and mean diffusivity images were obtained from whole-brain diffusion tensor imaging, and tract-based spatial statistics were used to localize white matter abnormalities. Compared with controls, patients showed significant decreases in fractional anisotropy of white matter of the bilateral anterior cingulate, fronto-orbital area, frontal lobe, anterior limb of the internal capsule and corpus callosum, as well as the left anterior and medial thalamus. Patients and controls showed no differences in mean diffusivity. Among patients, mean diffusivity values of white matter in the bilateral superior frontal gyri, bilateral fronto-orbital gyri and right superior parietal gyrus were positively correlated with depressive mood. This tract-based spatial statistics study demonstrated that drug-naïve patients with narcolepsy had reduced fractional anisotropy of white matter in multiple brain areas and significant relationship between increased mean diffusivity of white matter in frontal/cingulate and depression. It suggests the widespread disruption of white matter integrity and prevalent brain degeneration of frontal lobes according to a depressive symptom in narcolepsy. PMID:26610427

  17. Narcolepsy patients have antibodies that stain distinct cell populations in rat brain and influence sleep patterns

    PubMed Central

    Bergman, Peter; Adori, Csaba; Vas, Szilvia; Kai-Larsen, Ylva; Sarkanen, Tomi; Cederlund, Andreas; Agerberth, Birgitta; Julkunen, Ilkka; Horvath, Beata; Kostyalik, Diana; Kalmár, Lajos; Bagdy, Gyorgy; Huutoniemi, Anne; Partinen, Markku; Hökfelt, Tomas

    2014-01-01

    Narcolepsy is a chronic sleep disorder, likely with an autoimmune component. During 2009 and 2010, a link between A(H1N1)pdm09 Pandemrix vaccination and onset of narcolepsy was suggested in Scandinavia. In this study, we searched for autoantibodies related to narcolepsy using a neuroanatomical array: rat brain sections were processed for immunohistochemistry/double labeling using patient sera/cerebrospinal fluid as primary antibodies. Sera from 89 narcoleptic patients, 52 patients with other sleep-related disorders (OSRDs), and 137 healthy controls were examined. Three distinct patterns of immunoreactivity were of particular interest: pattern A, hypothalamic melanin-concentrating hormone and proopiomelanocortin but not hypocretin/orexin neurons; pattern B, GABAergic cortical interneurons; and pattern C, mainly globus pallidus neurons. Altogether, 24 of 89 (27%) narcoleptics exhibited pattern A or B or C. None of the patterns were exclusive for narcolepsy but were also detected in the OSRD group at significantly lower numbers. Also, some healthy controls exhibited these patterns. The antigen of pattern A autoantibodies was identified as the common C-terminal epitope of neuropeptide glutamic acid-isoleucine/α–melanocyte-stimulating hormone (NEI/αMSH) peptides. Passive transfer experiments on rat showed significant effects of pattern A human IgGs on rapid eye movement and slow-wave sleep time parameters in the inactive phase and EEG θ-power in the active phase. We suggest that NEI/αMSH autoantibodies may interfere with the fine regulation of sleep, contributing to the complex pathogenesis of narcolepsy and OSRDs. Also, patterns B and C are potentially interesting, because recent data suggest a relevance of those brain regions/neuron populations in the regulation of sleep/arousal. PMID:25136085

  18. Pediatric Ingestions: Emergency Department Management.

    PubMed

    Tarango Md, Stacy M; Liu Md, Deborah R

    2016-04-01

    Pediatric ingestions present a common challenge for emergency clinicians. Each year, more than 50,000 children aged less than 5 years present to emergency departments with concern for unintentional medication exposure, and nearly half of all calls to poison centers are for children aged less than 6 years. Ingestion of magnetic objects and button batteries has also become an increasing source of morbidity and mortality. Although fatal pediatric ingestions are rare, the prescription medications most responsible for injury and fatality in children include opioids, sedative/hypnotics, and cardiovascular drugs. Evidence regarding the evaluation and management of common pediatric ingestions is comprised largely of case reports and retrospective studies. This issue provides a review of these studies as well as consensus guidelines addressing the initial resuscitation, diagnosis, and treatment of common pediatric ingestions. Also discussed are current recommendations for decontamination, administration of antidotes for specific toxins, and management of ingested foreign bodies. PMID:27104813

  19. Pediatric Specialists

    MedlinePlus

    ... Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... Life Medical Home Health Insurance Pediatric Specialists Family Dynamics Media Work & Play Getting Involved in Your Community ...

  20. Pediatric Terminology

    Cancer.gov

    The National Institute of Child Health and Human Development (NICHD) is working with NCI Enterprise Vocabulary Services (EVS) to provide standardized terminology for coding pediatric clinical trials and other resea

  1. Sudden Cardiac Arrest in Pediatrics.

    PubMed

    Scheller, RoseAnn L; Johnson, Laurie; Lorts, Angela; Ryan, Thomas D

    2016-09-01

    Sudden cardiac arrest (SCA) in the pediatric population is a rare and potentially devastating occurrence. An understanding of the differential diagnosis for the etiology of the cardiac arrest allows for the most effective emergency care and provides the patient with the best possible outcome. Pediatric SCA can occur with or without prodromal symptoms and may occur during exercise or rest. The most common cause is arrhythmia secondary to an underlying channelopathy, cardiomyopathy, or myocarditis. After stabilization, evaluation should include electrocardiogram, chest radiograph, and echocardiogram. Management should focus on decreasing the potential for recurring arrhythmia, maintaining cardiac preload, and thoughtful medication use to prevent exacerbation of the underlying condition. The purpose of this review was to provide the emergency physician with a concise and current review of the incidence, differential diagnosis, and management of pediatric patients presenting with SCA. PMID:27585126

  2. Pediatric sleep apnea

    MedlinePlus

    Sleep apnea - pediatric; Apnea - pediatric sleep apnea syndrome; Sleep-disordered breathing - pediatric ... Untreated pediatric sleep apnea may lead to: High blood pressure Heart or lung problems Slow growth and development

  3. Virtual Pediatric Hospital

    MedlinePlus

    ... Last revised on February 12, 2016 Related Digital Libraries Pediatric GeneralPediatrics.com - the general pediatrician's view of the Internet PediatricEducation.org - a pediatric digital library and learning collaboratory intended to serve as a ...

  4. Pediatric Anthropometry

    NASA Astrophysics Data System (ADS)

    Klinich, Kathleen D.; Reed, Matthew P.

    Anthropometry is the measurement of human size, shape, and physical capabilities. Most pediatric anthropometry data are gathered to describe child growth patterns, but data on body size, mass distribution, range of motion, and posture are used to develop crash test dummies and computational models of child occupants. Pediatric anthropometry data are also used to determine child restraint dimensions, so they will accommodate the applicable population of child occupants.

  5. Pediatric melioidosis in Southern India.

    PubMed

    Mukhopadhyay, Chiranjay; Eshwara, Vandana K; Kini, Pushpa; Bhat, Vinod

    2015-08-01

    Melioidosis in children is increasingly detected from the coastal region of Southern India during monsoon. We present 11 cases of melioidosis, ranging from localized to disseminated, treated successfully, barring one death. It calls for awareness and upgrading laboratory facilities for better diagnosis and management of pediatric melioidosis. PMID:26388638

  6. Sodium Oxybate for Narcolepsy with Cataplexy: Systematic Review and Meta-Analysis

    PubMed Central

    Alshaikh, Mashael K.; Tricco, Andrea C.; Tashkandi, Mariam; Mamdani, Muhammad; Straus, Sharon E.; BaHammam, Ahmed S.

    2012-01-01

    Study Objectives: To assess the efficacy and safety of sodium oxybate (SXB) in narcolepsy-cataplexy patients. Design: Systematic review and meta-analysis. Patients: Adults with narcolepsy-cataplexy. Interventions: SXB. Measurements and Results: Electronic databases (e.g., MEDLINE) and references of included studies were searched to identify randomized controlled trials (RCTs) assessing the efficacy and safety of SXB for patients with narcolepsy-cataplexy. Risk of bias was appraised using the Cochrane risk of bias tool. Meta-analysis was conducted in Review Manager Version 5. Six RCTs and 5 companion reports were included after screening 14 full-text articles and 483 citations. All were private-industry funded. SXB (usually 9 g/night) was superior to placebo for reducing mean weekly cataplexy attacks (n = 2 RCTs, mean difference [MD]: −8.5, 95% CI: −15.3, −1.6), increasing maintenance wakefulness test (MWT) (n = 2, MD: 5.18, 95% CI: 2.59-7.78), reducing sleep attacks (n = 2, MD: −9.65, 95% CI: −17.72, −1.59), and increasing Clinical Global Impression scores (n = 3, relative risk, RR: 2.42, 95% CI: 1.77-3.32). SXB did not significantly increase REM sleep versus placebo (n = 2, MD: −0.49, 95% CI: −3.90, 2.92). Patients receiving SXB had statistically more adverse events versus placebo, including nausea (n = 3, relative risk [RR]: 7.74, 95% CI: 3.2, 19.2), vomiting (n = 2, RR: 11.8, 95% CI: 1.6, 89.4), and dizziness (n = 3, RR: 4.3, 95% CI: 1.1, 16.4). Enuresis was not significantly different from placebo (n = 2, RR: 2.6, 95% CI: 0.8, 9.8). All meta-analyses had minimal statistical heterogeneity (p-value > 0.1). Conclusion: Narcolepsy patients on SXB have significant reductions in cataplexy and daytime sleepiness. SXB is well tolerated in patients with narcolepsy, and most adverse events were mild to moderate in severity. Citation: Alshaikh MK; Tricco AC; Tashkandi M; Mamdani M; Straus SE; BaHammam AS. Sodium oxybate for narcolepsy with cataplexy

  7. Cyclic alternating pattern: A window into pediatric sleep.

    PubMed

    Bruni, Oliviero; Novelli, Luana; Miano, Silvia; Parrino, Liborio; Terzano, Mario Giovanni; Ferri, Raffaele

    2010-08-01

    Cyclic alternating pattern (CAP) has now been studied in different age groups of normal infants and children, and it is clear that it shows dramatic changes with age. In this review we first focus on the important age-related changes of CAP from birth to peripubertal age and, subsequently, we describe the numerous studies on CAP in developmental clinical conditions such as pediatric sleep disordered breathing, disorders of arousal (sleep walking and sleep terror), pediatric narcolepsy, learning disabilities with mental retardation (fragile-X syndrome, Down syndrome, autistic spectrum disorder, Prader-Willi syndrome) or without (dyslexia, Asperger syndrome, attention-deficit/hyperactivity disorder). CAP rate is almost always decreased in these conditions with the exception of the disorders of arousal and some cases of sleep apnea. Another constant result is the reduction of A1 subtypes, probably in relationship with the degree of cognitive impairment. The analysis of CAP in pediatric sleep allows a better understanding of the underlying neurophysiological mechanisms of sleep disturbance. CAP can be considered as a window into pediatric sleep, allowing a new vision on how the sleeping brain is influenced by a specific pathology or how sleep protecting mechanisms try to counteract internal or external disturbing events. PMID:20427233

  8. Effect of Psychostimulants on Impulsivity and Risk Taking in Narcolepsy with Cataplexy

    PubMed Central

    Bayard, Sophie; Langenier, Muriel Croisier; Dauvilliers, Yves

    2013-01-01

    Objective: To investigate the effect of psychostimulants on impulsivity, depressive symptoms, addiction, pathological gambling, and risk-taking using objective sensitivity tests in narcolepsy with cataplexy (NC). Drug-free patients with NC present alterations in reward processing, but changes with psychostimulants remain unknown. Design: Prospective case-control study. Setting: Academic sleep disorders center. Participants: There were 120 participants: 41 drug-free patients with NC, 37 patients with NC taking psychostimulants, and 42 matched healthy controls. Interventions: All participants underwent a semistructured clinical interview for impulse control and addictive behaviors and completed questionnaires for depression and impulsivity. Risk taking was analyzed through performance on a decision-making task under ambiguity (Iowa Gambling Task [IGT]) and under risk (Game of Dice Task [GDT]). All patients with NC underwent 1 night of polysomnography followed by a multiple sleep latency test for drug-free patients and a maintenance wakefulness test for treated patients. Results: Depressive symptoms were higher in drug-free patients than in treated patients and controls, with no difference between controls and treated patients. No between-group differences were found for impulsivity, substance addiction, or pathological gambling. Drug-free and treated patients showed selective reduced performance on the IGT and normal performance on the GDT compared with controls, with no differences between patients taking medication and those who did not. No clinical or polysomnographic characteristics or medication type was associated with IGT scores. Conclusions: Our results demonstrated that, whether taking psychostimulants or not, patients with narcolepsy with cataplexy preferred risky choices on a decision-making task under ambiguity. However, the lack of association with impulsivity, pathological gambling, or substance addiction remains of major clinical interest in narcolepsy

  9. New susceptibility variants to narcolepsy identified in HLA class II region.

    PubMed

    Miyagawa, Taku; Toyoda, Hiromi; Hirataka, Akane; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Imai, Makoto; Fujimura, Yota; Tamura, Yoshiyuki; Ikegami, Azusa; Wada, Yamato; Moriya, Shunpei; Furuya, Hirokazu; Kato, Mitsuhiro; Omata, Naoto; Kojima, Hiroto; Kashiwase, Koichi; Saji, Hiroh; Khor, Seik-Soon; Yamasaki, Maria; Wada, Yuji; Ishigooka, Jun; Kuroda, Kenji; Kume, Kazuhiko; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Hirata, Koichi; Uchimura, Naohisa; Shimizu, Tetsuo; Inoue, Yuichi; Honda, Yutaka; Mishima, Kazuo; Honda, Makoto; Tokunaga, Katsushi

    2015-02-01

    Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness, cataplexy and rapid eye movement sleep abnormalities, is tightly associated with human leukocyte antigen HLA-DQB1*06:02. DQB1*06:02 is common in the general population (10-30%); therefore, additional genetic factors are needed for the development of narcolepsy. In the present study, HLA-DQB1 in 664 Japanese narcoleptic subjects and 3131 Japanese control subjects was examined to determine whether HLA-DQB1 alleles located in trans of DQB1*06:02 are associated with narcolepsy. The strongest association was with DQB1*06:01 (P = 1.4 × 10(-10), odds ratio, OR = 0.39), as reported in previous studies. Additional predisposing effects of DQB1*03:02 were also found (P = 2.5 × 10(-9), OR = 1.97). A comparison between DQB1*06:02 heterozygous cases and controls revealed dominant protective effects of DQB1*06:01 and DQB1*05:01. In addition, a single-nucleotide polymorphism-based conditional analysis controlling for the effect of HLA-DQB1 was performed to determine whether there were other independent HLA associations outside of HLA-DQB1. This analysis revealed associations at HLA-DPB1 in the HLA class II region (rs3117242, P = 4.1 × 10(-5), OR = 2.45; DPB1*05:01, P = 8.1 × 10(-3), OR = 1.39). These results indicate that complex HLA class II associations contribute to the genetic predisposition to narcolepsy. PMID:25256355

  10. Pediatric environmental health.

    PubMed Central

    Walker, Bailus

    2005-01-01

    The links between environmental agents, environmental conditions, and disease and disability among children are receiving increasing attention. Evidence abounds that children are more susceptible than adults to the damaging effects of environmental agents and conditions. This evidence is illuminated by the much-publicized and expanding research agenda on the prevention, recognition, diagnosis and treatment of environmentally related disease in the pediatric population. Encouragingly, advances in molecular biology and other sciences are providing important tools to aid pediatricians and other healthcare professionals in meeting the environmental health needs of children. PMID:15712790

  11. Pediatric Sarcomas.

    PubMed

    Williams, Regan F; Fernandez-Pineda, Israel; Gosain, Ankush

    2016-10-01

    Pediatric sarcomas are a heterogeneous group of tumors accounting for approximately 10% of childhood solid tumors. Treatment is focused on multimodality therapy, which has improved the prognosis over the past two decades. Current regimens focus on decreasing treatment for low-risk patients to decrease the long-term side effects while maximizing therapy for patients with metastatic disease to improve survival. Pediatric sarcomas can be divided into soft tissue sarcomas and osseous tumors. Soft tissue sarcomas are further delineated into rhabdomyosarcomas, which affect young children and nonrhabdomyosarcomas, which are most common in adolescents. The most common bone sarcomas are osteosarcomas and Ewing's sarcoma. PMID:27542645

  12. Multidisciplinary care in pediatric oncology

    PubMed Central

    Cantrell, Mary Ann; Ruble, Kathy

    2011-01-01

    This paper describes the significant advances in the treatment of childhood cancer and supportive care that have occurred over the last several decades and details how these advances have led to improved survival and quality of life (QOL) for children with cancer through a multidisciplinary approach to care. Advances in the basic sciences, general medicine, cooperative research protocols, and policy guidelines have influenced and guided the multidisciplinary approach in pediatric oncology care across the spectrum from diagnosis through long-term survival. Two case studies are provided to highlight the nature and scope of multidisciplinary care in pediatric oncology care. PMID:21811384

  13. Metaiodobenzylguanidine (MIBG) labeled with /sup 123/I//sup 131/I in neuroblastoma diagnosis and follow-up treatment with a review of the diagnostic results of the International Workshop of Pediatric Oncology held in Rome, September 1986

    SciTech Connect

    Feine, U.; Mueller-Schauenburg, W.T.; Treuner, J.; Klingebiel, T.

    1987-01-01

    Our experience in scintigraphic diagnosis using /sup 123/I//sup 131/I-metaiodobenzylguanidine (MIBG) on 37 children with neuroblastomas stage III-IV is reported and discussed, together with the results obtained by other authors on MIBG diagnosis at the International Workshop of Pediatric Oncology held in Rome in September 1986. In our own investigation, 49 examinations were undertaken with /sup 123/I-MIBG and 66 with /sup 131/I-MIBG partly under therapy conditions with high-activity doses of /sup 131/I-MIBG. There were 29 neuroblastomas, 3 ganglioneuromas, and 3 ganglioneuroblastomas. The localization of all primary tumors was over 90%; for neuroblastomas with a high level of catecholamine excretion, over 95%. The specificity was about 100%. The sensitivity with respect to tumor relapse and all localization of metastasis and bone-marrow tumor infiltration in the follow-up-phase approaches was 70% during or after therapy. What emerges from the experience of most investigators is that /sup 123/I-MIBG is the agent best suited to detect tumor relapse and metastasis, especially in the bone marrow. MIBG examinations are of great value in follow-up studies for detecting tumor relapse and bone marrow infiltrations, especially before the onset of clinical symptoms and other indications. 16 references.

  14. The effects of sodium oxybate on core body and skin temperature regulation in narcolepsy.

    PubMed

    van der Heide, Astrid; Donjacour, Claire E H M; Pijl, Hanno; Reijntjes, Robert H A M; Overeem, Sebastiaan; Lammers, Gert J; Van Someren, Eus J W; Fronczek, Rolf

    2015-10-01

    Patients suffering from narcolepsy type 1 show altered skin temperatures, resembling the profile that is related to sleep onset in healthy controls. The aim of the present study is to investigate the effects of sodium oxybate, a widely used drug to treat narcolepsy, on the 24-h profiles of temperature and sleep-wakefulness in patients with narcolepsy and controls. Eight hypocretin-deficient male narcolepsy type 1 patients and eight healthy matched controls underwent temperature measurement of core body and proximal and distal skin twice, and the sleep-wake state for 24 h. After the baseline assessment, 2 × 3 g of sodium oxybate was administered for 5 nights, immediately followed by the second assessment. At baseline, daytime core body temperature and proximal skin temperature were significantly lower in patients with narcolepsy (core: 36.8 ± 0.05 °C versus 37.0 ± 0.05 °C, F = 8.31, P = 0.01; proximal: 33.4 ± 0.26 °C versus 34.3 ± 0.26 °C, F = 5.66, P = 0.03). In patients, sodium oxybate administration increased proximal skin temperature during the day (F = 6.46, P = 0.04) to a level similar as in controls, but did not affect core body temperature, distal temperature or distal-proximal temperature gradient. Sodium oxybate administration normalised the predictive value of distal skin temperature and distal-proximal temperature gradient for the onset of daytime naps (P < 0.01). In conclusion, sodium oxybate administration resulted in a partial normalisation of the skin temperature profile, by increasing daytime proximal skin temperature, and by strengthening the known relationship between skin temperature and daytime sleep propensity. These changes seem to be related to the clinical improvement induced by sodium oxybate treatment. A causal relationship is not proven. PMID:25913575

  15. Pediatric ultrasonography

    SciTech Connect

    Hayden, C.K. Jr.; Swischuk, L.E.

    1987-01-01

    Two leading experts explore the benefits and limitations of pediatric ultrasonography, explaining the latest techniques for optimal imaging of specific body regions: the head, chest, abdomen, pelvis, extremities, and soft tissues. Numerous illustrations emphasize significant points and combine with the text to show specifically what to look for when imaging children.

  16. Pediatric Trichotillomania

    PubMed Central

    Harrison, Julie P.; Franklin, Martin E.

    2012-01-01

    Trichotillomania (TTM) is an impulse control disorder characterized by chronic hair-pulling, distress, and impairment. Although the negative effects of TTM are documented and often readily evident, there remains a paucity of psychopathology and treatment research on this disorder, particularly in pediatric populations. In an effort to improve assessment of pediatric TTM, several TTM-specific instruments for youth have now been developed to reliably identify symptoms and examine related phenomenology. Instrument development has now yielded instruments to evaluate TTM and related symptoms in the context of clinical trials of youth, and the first randomized controlled trial of any treatment for pediatric TTM was recently published. Using the initial pediatric TTM studies as building blocks, future research is now needed to create a stronger body of knowledge about the relative and combined efficacy of potential interventions for TTM in youth, as well as to examine the effects of TTM phenomenology and comorbidity on treatment outcome. Dissemination efforts must also be heightened for this knowledge to best reach these vulnerable populations. PMID:22437627

  17. Glucose and Fat Metabolism in Narcolepsy and the Effect of Sodium Oxybate: A Hyperinsulinemic-Euglycemic Clamp Study

    PubMed Central

    Donjacour, Claire E. H. M.; Aziz, N. Ahmad; Overeem, Sebastiaan; Kalsbeek, Andries; Pijl, Hanno; Lammers, Gert Jan

    2014-01-01

    Introduction: Narcolepsy is associated with obesity though it is uncertain whether this is caused by changes in glucose and fat metabolism. Therefore, we performed a detailed analysis of systemic energy homeostasis in narcolepsy patients, and additionally, investigated whether it was affected by three months of sodium oxybate (SXB) treatment. Methods: Nine hypocretin deficient patients with narcolepsy-cataplexy, and nine healthy sex, age, and BMI matched controls were enrolled. A hyperinsulinemic-euglycemic clamp combined with stable isotopes ([6,6-2H2]-glucose and [2H5]- glycerol) was performed at baseline. In seven patients a second study was performed after three months of SXB treatment. Results: Glucose disposal rate (GDR) per unit serum insulin was significantly higher in narcolepsy patients compared to matched controls (1.6 ± 0.2 vs. 1.1 ± 0.3 μmol/kgFFM/min/mU×L; P = 0.024), whereas β-cell function was similar (P = 0.50). Basal steady state glycerol appearance rate tended to be lower in narcolepsy patients (5.2 ± 0.4 vs. 7.5 ± 1.3 μmol/kgFM/min; P = 0.058), suggesting a lower rate of lipolysis. SXB treatment induced a trend in reduction of the GDR (1.4 ± 0.1 vs. 1.1 ± 0.2 μmol/kgFFM/min/mU×L; P = 0.063) and a reduction in endogenous glucose production (0.24 ± 0.03 vs. 0.16 ± 0.03 μmol/kgFFM/min/mU×L: P = 0.028) per unit serum insulin. After SXB treatment lipolysis increased (4.9 ± 0.4 vs. 6.5 ± 0.6 μmol/kgFM/min; P = 0.018), and body weight decreased in narcolepsy patients (99.2 ± 6.0 vs. 94.0 ± 5.4 kg; P = 0.044). Conclusion: We show that narcolepsy patients are more insulin sensitive and may have a lower rate of lipolysis than matched controls. SXB stimulated lipolysis in narcolepsy patients, possibly accounting for the weight loss after treatment. While sodium oxybate tended to decrease systemic insulin sensitivity, it increased hepatic insulin sensitivity, suggesting tissue-specific effects. Citation: Donjacour CE; Aziz NA; Overeem S

  18. The proteomics of pediatric brain tumors.

    PubMed

    Anagnostopoulos, Athanasios K; Tsangaris, George T

    2014-10-01

    Pediatric tumors of the CNS are the leading cause of cancer-related mortality in children. In pediatric pathology, brain tumors constitute the most frequent solid malignancy. An unparalleled outburst of information in pediatric neuro-oncology research has been witnessed over the last few years, largely due to increased use of high-throughput technologies such as genomics, proteomics and meta-analysis tools. Input from these technologies gives scientists the advantage of early prognosis assessment, more accurate diagnosis and prospective curative intent in the pediatric brain tumor clinical setting. The present review aims to summarize current knowledge on research applying proteomics techniques or proteomics-based approaches performed on pediatric brain tumors. Proteins that can be used as potential disease markers or molecular targets, and their biological significance, are herein listed and discussed. Furthermore, future perspectives that proteomics technologies may offer regarding this devastating disorder are presented. PMID:25059388

  19. Narcolepsy: Autoimmunity, Effector T Cell Activation Due to Infection, or T Cell Independent, Major Histocompatibility Complex Class II Induced Neuronal Loss?

    ERIC Educational Resources Information Center

    Fontana, Adriano; Gast, Heidemarie; Reith, Walter; Recher, Mike; Birchler, Thomas; Bassetti, Claudio L.

    2010-01-01

    Human narcolepsy with cataplexy is a neurological disorder, which develops due to a deficiency in hypocretin producing neurons in the hypothalamus. There is a strong association with human leucocyte antigens HLA-DR2 and HLA-DQB1*0602. The disease typically starts in adolescence. Recent developments in narcolepsy research support the hypothesis of…

  20. Conditional Ablation of Orexin/Hypocretin Neurons: A New Mouse Model for the Study of Narcolepsy and Orexin System Function

    PubMed Central

    Tabuchi, Sawako; Tsunematsu, Tomomi; Black, Sarah W.; Tominaga, Makoto; Maruyama, Megumi; Takagi, Kazuyo; Minokoshi, Yasuhiko; Sakurai, Takeshi

    2014-01-01

    The sleep disorder narcolepsy results from loss of hypothalamic orexin/hypocretin neurons. Although narcolepsy onset is usually postpubertal, current mouse models involve loss of either orexin peptides or orexin neurons from birth. To create a model of orexin/hypocretin deficiency with closer fidelity to human narcolepsy, diphtheria toxin A (DTA) was expressed in orexin neurons under control of the Tet-off system. Upon doxycycline removal from the diet of postpubertal orexin-tTA;TetO DTA mice, orexin neurodegeneration was rapid, with 80% cell loss within 7 d, and resulted in disrupted sleep architecture. Cataplexy, the pathognomic symptom of narcolepsy, occurred by 14 d when ∼5% of the orexin neurons remained. Cataplexy frequency increased for at least 11 weeks after doxycycline. Temporary doxycycline removal followed by reintroduction after several days enabled partial lesion of orexin neurons. DTA-induced orexin neurodegeneration caused a body weight increase without a change in food consumption, mimicking metabolic aspects of human narcolepsy. Because the orexin/hypocretin system has been implicated in the control of metabolism and addiction as well as sleep/wake regulation, orexin-tTA; TetO DTA mice are a novel model in which to study these functions, for pharmacological studies of cataplexy, and to study network reorganization as orexin input is lost. PMID:24806676

  1. Pediatric heart surgery - discharge

    MedlinePlus

    ... discharge; Heart valve surgery - children - discharge; Heart surgery - pediatric - discharge; Heart transplant - pediatric - discharge ... Keane JF, Lock JE, Fyler DC, eds. Nadas' Pediatric Cardiology . 2nd ed. St. Louis, MO; WB Saunders; ...

  2. Pediatric sleep apnea

    MedlinePlus

    Sleep apnea - pediatric; Apnea - pediatric sleep apnea syndrome; Sleep-disordered breathing - pediatric ... During sleep, all of the muscles in the body become more relaxed. This includes the muscles that help keep ...

  3. Surgical Site Infections After Pediatric Spine Surgery.

    PubMed

    Floccari, Lorena V; Milbrandt, Todd A

    2016-04-01

    Surgical site infection (SSI) after spinal deformity surgery is a complication in the pediatric population resulting in high morbidity and cost. Despite modern surgical techniques and preventative strategies, the incidence remains substantial, especially in the neuromuscular population. This review focuses on recent advancements in identification of risk factors, prevention, diagnosis, and treatment strategies for acute and delayed pediatric spine infections. It reviews recent literature, including the best practice guidelines for infection prevention in high-risk patients. Targets of additional research are highlighted to assess efficacy of current practices to further reduce risk of SSI in pediatric patients with spinal deformity. PMID:26772947

  4. The Prevalence and Characteristics of Primary Headache and Dream-Enacting Behaviour in Japanese Patients with Narcolepsy or Idiopathic Hypersomnia: A Multi-Centre Cross-Sectional Study

    PubMed Central

    Suzuki, Keisuke; Miyamoto, Masayuki; Miyamoto, Tomoyuki; Inoue, Yuichi; Matsui, Kentaro; Nishida, Shingo; Hayashida, Kenichi; Usui, Akira; Ueki, Yoichiro; Nakamura, Masaki; Murata, Momoyo; Numao, Ayaka; Watanabe, Yuji; Suzuki, Shiho; Hirata, Koichi

    2015-01-01

    Background Because the prevalence and characteristics of primary headache have yet to be thoroughly studied in patients with hypersomnia disorders, including narcolepsy and idiopathic hypersomnia, we examined these parameters in the Japanese population. Methods In a multicentre cross-sectional survey, among 576 consecutive outpatients with sleep disorders, 68 narcolepsy patients and 35 idiopathic hypersomnia patients were included. Additionally, 61 healthy control subjects participated. Semi-structured headache questionnaires were administered to all participants. Results The patients with narcolepsy (52.9%) and idiopathic hypersomnia (77.1%) more frequently experienced headache than the healthy controls (24.6%; p<0.0001). The prevalence rates were 23.5%, 41.2% and 4.9% for migraine (p<0.0001) and 16.2%, 23.5% and 14.8% (p = 0.58) for tension-type headache among the narcolepsy patients, the idiopathic hypersomnia patients and the control subjects, respectively. Those who experienced migraine more frequently experienced excessive daytime sleepiness, defined as an Epworth Sleepiness Scale score of ≥10, than those who did not experience headache among the patients with narcolepsy (93.8% vs. 65.6%, p = 0.040) and idiopathic hypersomnia (86.7% vs. 37.5%, p = 0.026). Dream-enacting behaviour (DEB), as evaluated by the rapid eye movement sleep disorders questionnaire, was more frequently observed in the narcolepsy patients than in the idiopathic hypersomnia patients and the control subjects. An increased DEB frequency was observed in the narcolepsy patients with migraines compared to those without headache. Conclusions Migraines were frequently observed in patients with narcolepsy and idiopathic hypersomnia. DEB is a characteristic of narcolepsy patients. Further studies are required to assess the factors that contribute to migraines in narcolepsy and idiopathic hypersomnia patients. PMID:26418536

  5. [Retrospective analysis of 5,108 pediatric case files under traumatological and forensic aspects: a contribution to the differential diagnosis of physical child abuse vs. falls].

    PubMed

    Hennig, Christine; Tsokos, Michael

    2007-01-01

    We retrospectively evaluated 5108 case files from all children and adolescents under 16 years who were treated as in-patients during a four-year-period (2001-2004) in the Pediatric Department of a large University Hospital in Northern Germany. Statistical evaluation was performed with the epidemiologic software Epi Info 6.0. 472 cases where a trauma was diagnosed or suspected upon admission to hospital were further evaluated. Most frequently concerned were children between two and five years and the most common cause for their injuries, according to the anamnesis, were falls. These falls were analysed on the basis of the reported story and the established injury pattern. The height of the falls and the severity of injuries correlated well in most cases. The often critically discussed falling height of about 100 cm. which is obviously often stated by caregivers to cover up nonaccidental injuries, proved to be again the decisive problematic aspect concerning the differentiation between non-accidental (abusive) and accidental injuries. PMID:18260566

  6. Key sleep neurologic disorders: Narcolepsy, restless legs syndrome/Willis-Ekbom disease, and REM sleep behavior disorder.

    PubMed

    St Louis, Erik K

    2014-02-01

    Sleep disorders are frequent comorbidities in neurologic patients. This review focuses on clinical aspects and prognosis of 3 neurologic sleep disorders: narcolepsy, restless legs syndrome/Willis-Ekbom disease (RLS/WED), and REM sleep behavior disorder (RBD). Narcolepsy causes pervasive, enduring excessive daytime sleepiness, adversely affecting patients' daily functioning. RLS/WED is characterized by an uncomfortable urge to move the legs before sleep, often evolving toward augmentation and resulting in daylong bothersome symptoms. RBD causes potentially injurious dream enactment behaviors that often signify future evolution of overt synucleinopathy neurodegeneration in as many as 81% of patients. Timely recognition, referral for polysomnography, and longitudinal follow-up of narcolepsy, RLS/WED, and RBD patients are imperatives for neurologists in providing quality comprehensive patient care. PMID:24605270

  7. Pediatric Neurotrauma

    PubMed Central

    Kannan, Nithya; Ramaiah, Ramesh; Vavilala, Monica S.

    2014-01-01

    Traumatic brain injury (TBI) is the leading cause of death and disability in children over 1 year of age. Knowledge about the age-specific types of injury and how to manage children with neurotrauma is essential to understanding and recognizing the extent and degree of injury and to optimize outcomes. In this article, we review the epidemiology, pathophysiology, and clinical management of pediatric neurotrauma. PMID:25024940

  8. Pediatric Virology

    PubMed Central

    Portnoy, Bernard

    1965-01-01

    Pediatric virology is not an isolàted discipline. Rather, the syndromes associated with viral infection are modified by the unique characteristics of infancy and childhood. Fortunately for the pediatrician, and certainly for children, viral infections in childhood are rarely fatal, and are almost never serious. Future efforts of the pediatrician and virologist should be directed toward increased fetal salvage as with rubella and the prevention of severe, viral lower respiratory tract disease. PMID:14298871

  9. Pediatric nutrition.

    PubMed

    Greco, Deborah S

    2014-03-01

    This article discusses pediatric nutrition in puppies and kittens. Supplementation of basic nutrients such as fat, protein, minerals, vitamins, and essential fatty acids of the bitch is essential for the proper growth and development of puppies during the lactation period. Milk replacers are compared for use in puppies and kittens. Supplements such as colostrum and probiotics for promotion of a healthy immune system and prevention or treatment of stress-induced and weaning diarrhea are also discussed. PMID:24580990

  10. Oral and Dental Considerations in Pediatric Leukemic Patient

    PubMed Central

    Padmini, Chiyadu; Bai, K. Yellamma

    2014-01-01

    Throughout the world, there have been drastic decline in mortality rate in pediatric leukemic population due to early diagnosis and improvements in oncology treatment. The pediatric dentist plays an important role in the prevention, stabilization, and treatment of oral and dental problems that can compromise the child's health and quality of life during, and follow up of the cancer treatment. This manuscript discusses recommendations and promotes dental care of the pediatric leukemic patients. PMID:24724033

  11. Oral and dental considerations in pediatric leukemic patient.

    PubMed

    Padmini, Chiyadu; Bai, K Yellamma

    2014-01-01

    Throughout the world, there have been drastic decline in mortality rate in pediatric leukemic population due to early diagnosis and improvements in oncology treatment. The pediatric dentist plays an important role in the prevention, stabilization, and treatment of oral and dental problems that can compromise the child's health and quality of life during, and follow up of the cancer treatment. This manuscript discusses recommendations and promotes dental care of the pediatric leukemic patients. PMID:24724033

  12. Evaluation of a Novel Plasma (1,3)-β-d-Glucan Detection Assay for Diagnosis of Candidemia in Pediatric Patients

    PubMed Central

    Liu, Ying; Chen, Feng; Zhu, Xiaodong

    2015-01-01

    We evaluated a novel plasma (1,3)-β-d-glucan (BDG) detection assay for the diagnosis of candidemia in children. The median BDG levels were 73.4 pg/ml in patients with candidemia and <10 pg/ml in patients without candidemia (P < 0.001). Receiver operating characteristic analysis revealed a cutoff point of 14 pg/ml and an area under the curve of 0.802. At these values, the assay demonstrated 68% sensitivity, 91% specificity, 66% positive predictive value, and 91% negative predictive value. Plasma BDG levels were undetectable in 18 candidemia cases. PMID:26109441

  13. Clarifying the association of genes within the major histocompatibility complex with narcolepsy

    SciTech Connect

    Acton, R.T.; Watson, B.; Rivers, C.

    1994-09-01

    HLA-DR2 and DQwl has been reported to be strongly associated with narcolepsy. The particular phenotype and strength of these associations varies between races. For example DQB*0601 has been reported associated with some African American (AA) narcoleptics while some Caucasian American (CA) narcoleptics do not possess DR2 or DQw1. We have sought to clarify the relationship of MHC genes with narcolepsy in the local CA and AA population. There was no significant difference in the frequency of DR phenotypes in CA or AA narcoleptics compared to race, age, sex and geographic region-matched controls. DR2 was increased in CA cataplexy positive (Cat+) narcoleptics compared to controls (p=0.028, odds ratio (OR)=2.4) and to Cat- narcoleptics (p=<0.001, OR=8.8). DR11 was increased in AA Cat+ narcoleptics compared to controls (p=0.004, OR=11.2) and to Cat- narcoleptics (p=0.002). DQB1*0601 was not significantly associated with narcolepsy in our AA population. We have assessed the frequency of the TNFa (13 alleles, 1.1Mb telomeric to DQ{alpha}), D6S105 (13 alleles, 1kb telomeric of HLA-A), and GLP-1R (19 alleles, 18.5 Mb centromeric of DQ{alpha}), dinucleotide repeats in narcoleptics compared to controls. The TNFa allele 117 was increased in CA Cat+ vs. controls (p=0.003). The GLP-1R allele 144 was increased in CA Cat- vs. controls (p=0.02). In AA narcoleptics, the TNFa allele 109 was significantly increased (p=0.04) along with the D6S105 allele 130 (p=0.02) compared to controls. The D6S105 allele 130 was increased in AA Cat- vs. controls (p=0.03). The GLP-1R allele 154 was significantly decreased in AA Cat+ vs. Cat- (p=0.04). These data suggest that DR and/or DQ genes are not responsible for narcolepsy and that cataplexy is associated with different regions around the MHC in various racial groups.

  14. Efficiency of upper gastrointestinal endoscopy in pediatric surgical practice

    PubMed Central

    Temiz, Abdulkerim

    2015-01-01

    After the introduction of flexible fiber optic endoscopy to pediatric gastroenterology in the 1970s, upper gastrointestinal (UGI) endoscopy can be performed for the diagnosis and treatment of all age groups of children. We review indications, contraindications, preparation of patients for the procedure, and details of diagnostic and therapeutic UGI endoscopy used in pediatric surgery. We also discuss potential complications of endoscopy. PMID:26566483

  15. Pediatric Insomnia.

    PubMed

    Brown, Kelly M; Malow, Beth A

    2016-05-01

    Insomnia in children is complex and frequently multifactorial. This review discusses the major categories of insomnia as well as common causes. The consequences of insomnia, including issues with mood, behavior, and cognition, are discussed. Sleep disorders are much more prevalent in certain pediatric populations, such as children with autism spectrum disorders. The evaluation of insomnia in children includes a focused history and examination and occasionally actigraphy or polysomnography. Behavioral and pharmacological therapies are discussed, as are future directions for research and clinical practice. PMID:26378738

  16. Portal hypertension in children: expert pediatric opinion on the report of the Baveno v Consensus Workshop on Methodology of Diagnosis and Therapy in Portal Hypertension.

    PubMed

    Shneider, Benjamin L; Bosch, Jaime; de Franchis, Roberto; Emre, Sukru H; Groszmann, Roberto J; Ling, Simon C; Lorenz, Jonathan M; Squires, Robert H; Superina, Riccardo A; Thompson, Ann E; Mazariegos, George V

    2012-08-01

    Complications of portal hypertension in children lead to significant morbidity and are a leading indication for consideration of liver transplantation. Approaches to the management of sequelae of portal hypertension are well described for adults and evidence-based approaches have been summarized in numerous meta-analyses and conferences. In contrast, there is a paucity of data to guide the management of complications of portal hypertension in children. An international panel of experts was convened on April 8, 2011 at The Children's Hospital of Pittsburgh of UPMC to review and adapt the recent report of the Baveno V Consensus Workshop on the Methodology of Diagnosis and Therapy in Portal Hypertension to the care of children. The opinions of that expert panel are reported. PMID:22409296

  17. Common Pediatric Disabilities: Medical Aspects and Educational Implications.

    ERIC Educational Resources Information Center

    Tyler, Janet Siantz; Colson, Steven

    1994-01-01

    This paper presents definitions of common pediatric disabilities and information about incidence, causes, diagnosis, common characteristics, complications with educational implications, and multidisciplinary intervention approaches. It covers the following conditions: attention deficit hyperactivity disorder, cerebral palsy, Down syndrome, fragile…

  18. Post-H1N1 Flu Vaccination Narcolepsy in Switzerland: A Retrospective Survey in the 30 Sleep-Certified Swiss Centers.

    PubMed

    Kallweit, Ulf; Mathis, Johannes; Jenni, Oskar G; Heinzer, Raphaël; Haba-Rubio, José; Baumann, Christian R; Cervena, Katerina; Bassetti, Claudio L A

    2016-01-01

    Narcolepsy-cataplexy is a sleep-wake disorder and suggested to be immune-mediated, involving genetic and environmental factors. The autoimmune process eventually leads to a loss of hypocretin neurons in the lateral hypothalamus. Epidemiological studies in several countries proved an increased incidence of narcolepsy after H1N1 flu vaccination and infection. This survey in 30 sleep centers in Switzerland led to the identification of 9 H1N1-vaccinated children and adults as newly diagnosed narcolepsy. Clinical features included the abrupt and severe onset of sleepiness, cataplexy and sleep fragmentation. PMID:26901055

  19. Pediatric optic neuritis.

    PubMed

    Yeh, E Ann; Graves, Jennifer S; Benson, Leslie A; Wassmer, Evangeline; Waldman, Amy

    2016-08-30

    Optic neuritis (ON) is a common presenting symptom in pediatric CNS demyelinating disorders and may be associated with dramatic visual loss. Knowledge regarding clinical presentation, associated diseases, therapy, and outcomes in ON in children has grown over the past decade. These studies have shown that younger children (<10 years of age) are more likely to present with bilateral ON and older children with unilateral ON. Furthermore, studies focusing on visual recovery have shown excellent recovery of high-contrast visual acuity in the majority of children, but functional and structural studies have shown evidence of irreversible injury and functional decline after ON in children. Although randomized controlled treatment trials have not been performed in children and adolescents with ON, standard of care suggests that the use of high-dose pulse steroids is safe and likely effective. This article reviews current knowledge about the clinical presentation and management of pediatric ON, with attention to associated syndromes and evaluative tools that may inform diagnosis and interventions. PMID:27572862

  20. Manual characterization of sleep spindle index in patients with narcolepsy and idiopathic hypersomnia.

    PubMed

    Delrosso, Lourdes M; Chesson, Andrew L; Hoque, Romy

    2014-01-01

    This is a retrospective review of PSG data from 8 narcolepsy patients and 8 idiopathic hypersomnia (IH) patients, evaluating electrophysiologic differences between these two central hypersomnias. Spindles were identified according to the AASM Manual for the Scoring of Sleep and Associated Events; and counted per epoch in the first 50 epochs of N2 sleep and the last 50 epochs of N2 sleep in each patient's PSG. Spindle count data (mean ± standard deviation) per 30 second-epoch (spindle index) in the 8 narcolepsy patients was as follows: 0.37 ± 0.73 for the first 50 epochs of N2; 0.65 ± 1.09 for the last 50 epochs of N2; and 0.51 ± 0.93 for all 100 epochs of N2. Spindle index data in the 8 IH patients was as follows: 2.31 ± 2.23 for the first 50 epochs of N2; 2.84 ± 2.43 for the last 50 epochs of N2; and 2.57 ± 2.35 for all 100 epochs of N2. Intergroup differences in spindle count in the first 50 N2 epochs, the last 50 N2 epochs, and all 100 epochs of scored N2 were significant (P < 0.01) as were the intragroup differences between the first 50 N2 epochs and the last 50 N2 epochs. PMID:24800086

  1. Cerebrospinal fluid cytokine levels in type 1 narcolepsy patients very close to onset.

    PubMed

    Kornum, Birgitte Rahbek; Pizza, Fabio; Knudsen, Stine; Plazzi, Giuseppe; Jennum, Poul; Mignot, Emmanuel

    2015-10-01

    Type 1 narcolepsy is caused by a loss of hypocretin (orexin) signaling in the brain. Genetic data suggests the disorder is caused by an autoimmune attack on hypocretin producing neurons in hypothalamus. This hypothesis has however not yet been confirmed by consistent findings of autoreactive antibodies or T-cells in patient samples. One explanation for these negative results may be that the autoimmune process is no longer active when patients present to the clinic. With increasing awareness in recent years, more and more patients have been diagnosed closer and closer to disease onset. In this study, we tested whether an active immune process in the brain could be detected in these patients, as reflected by increased cytokine levels in the cerebrospinal fluid (CSF). Using multiplex analysis, we measured the levels of 51 cytokines and chemokines in the CSF of 40 type 1 narcolepsy patients having varying disease duration. For comparison, we used samples from 9 healthy controls and 9 patients with other central hypersomnia. Cytokine levels did not differ significantly between controls and patients, even in 5 patients with disease onset less than a month prior to CSF sampling. PMID:25771509

  2. Predictive value ofMP4 (Milk Prick Four), a panel of skin prick test for the diagnosis of pediatric immediate cow's milk allergy.

    PubMed

    Onesimo, R; Monaco, S; Greco, M; Caffarelli, C; Calvani, M; Tripodi, S; Sopo, S M

    2013-12-01

    Background. Oral food challenge (OFC) is the gold standard for the diagnosis of food allergy (FA), but it is risky, expensive and time-consuming. Many studies aimed to avoid OFC by finding a cut off (CO) of skin prick test (SPT) to predict a positive outcome of OFC. Unfortunately the results of these studies are poorly reproducible for various reasons, including the absence of known protein concentration in the extracts. It has also been documented that some doctors mistakenly attributed some symptom/disease, for example recurrent respiratory infections of the upper airways, to the FA, expecially cow milk allergy (CMA). These doctors often performed SPT in their studies to confirm, if the result was positive, their diagnostic suspicion and prescribe an elimination diet without seeking the advice of allergy specialist (AS) and without making an OFC. Objective. To test the diagnostic performances of SPT with fresh cow's milk and commercial extracts of casein, beta-lactoglobulin, alpha-lactoalbumin at known protein concentrations (Milk Prick Four [MP4] test). To look for 2 clusters of SPT CO with positive predictive value (PPV) > 95%, one for AS, one for general practitioner (GP). Methods. A prospective study was carried out on 191 children referred by their GP to the allergy center for suspected immediate-type CMA (iCMA). Based on the history, the allergist has divided the children into two groups: a) group A, children with suspected (subgroup A1, 55 children) or known (subgroup A2, 27 children) diagnosis of iCMA; b) group B, 109 children with a clinical history incompatible with iCMA suspicion according to the AS (in this case the GP was wrong to send those patients to the allergy center). SPT with MP4 test was performed on all patients, and OFC was performed on all patients of group A. CO with PPV > 95% was calculated separately for the entire population of 191 children (CO for GP) and for the only group A (CO for AS). Results. Fresh cow's milk SPT was the most

  3. Nuclear Medicine in Thyroid Diseases in Pediatric and Adolescent Patients

    PubMed Central

    Volkan-Salancı, Bilge; Özgen Kıratlı, Pınar

    2015-01-01

    Both benign and malignant diseases of the thyroid are rare in the pediatric and adolescent population, except congenital hypothyroidism. Nuclear medicine plays a major role, both in the diagnosis and therapy of thyroid pathologies. Use of radioactivity in pediatric population is strictly controlled due to possible side effects such as secondary cancers; therefore, management of pediatric patients requires detailed literature knowledge. This article aims to overview current algorithms in the management of thyroid diseases and use of radionuclide therapy in pediatric and adolescent population. PMID:26316469

  4. Central Precocious Puberty following the Diagnosis and Treatment of Pediatric Cancer and Central Nervous System Tumors: Presentation and Long-term Outcomes

    PubMed Central

    Chemaitilly, Wassim; Merchant, Thomas E.; Li, Zhenghong; Barnes, Nicole; Armstrong, Gregory T.; Ness, Kirsten K.; Pui, Ching-Hon; Kun, Larry E.; Robison, Leslie L.; Hudson, Melissa M.; Sklar, Charles A; Gajjar, Amar

    2015-01-01

    Objectives To estimate the prevalence of central precocious puberty (CPP) after treatment for tumors and malignancies involving the central nervous system (CNS) and examine repercussions on growth and pubertal outcomes. Design Retrospective study of patients with tumors near and/or exposed to radiotherapy to the hypothalamus/pituitary (HPA). Patients and Measurements Patients with CPP were evaluated at puberty onset, completion of GnRH agonist treatment (GnRHa), and last follow-up. Multivariable analysis was used to test associations between tumor location, sex, age at CPP, GnRHa duration and a diagnosis of CPP with final height <-2SD score (SDS), gonadotropin deficiency (LH/FSHD) and obesity, respectively. Results Eighty patients (47 females) had CPP and were followed for 11.4±5.0 years (mean ± SD). The prevalence of CPP was 15.2% overall, 29.2% following HPA tumors and 6.6% after radiotherapy for non-HPA tumors. Height <-2SDS was more common at the last follow-up than at puberty onset (21.4% vs. 2.4%, p=0.005). Obesity was more prevalent at the last follow-up than at completion of GnRHa or puberty onset (37.7%, 22.6% and 20.8% respectively, p=0.03). Longer duration of GnRHa was associated with increased odds of final height <-2SDS (OR=2.1, 95% CI 1.0–4.3); longer follow-up with obesity (OR=1.3, 95% CI 1.1–1.6). LH/FSHD was diagnosed in 32.6%. There was no independent association between CPP and final height <- 2SDS, LH/FSHD and obesity in the subset of patients with HPA low-grade gliomas. Conclusions Patients with organic CPP experience an incomplete recovery of growth and a high prevalence of LH/FSHD and obesity. Early diagnosis and treatment of CPP may limit further deterioration of final height prospects. PMID:26464129

  5. Pediatric Stroke

    MedlinePlus

    ... Trials News About Neurology Image Library Search The Internet Stroke Center Patients & Families About Stroke Stroke Diagnosis ... UT Southwestern Medical Center. Copyright © 1997-2016 - The Internet Stroke Center. All rights reserved. The information contained ...

  6. Birth Order and Narcolepsy Risk Among Genetically Susceptible Individuals: a Population-based Case-control Study

    PubMed Central

    Watson, Nathaniel F.; Ton, Thanh G.N.; Koepsell, Thomas D.; Longstreth, W.T.

    2011-01-01

    Background Birth order may play a role in autoimmune diseases and early childhood infections, both factors implicated in the etiology of narcolepsy. We investigated the association between birth order and narcolepsy risk in a population-based case-control study in which all study subjects were HLA-DQB1*0602 positive. Methods Subjects were 18-50 years old, residents of King County, Washington, and positive for HLA-DQB1*0602. Birth order was obtained from administered interviews. We used logistic regression to generate odds ratios adjusted for income and African American race. Results Analyses included 67 cases (mean age 34.3 [SD=9.1], 70.2% female) and 95 controls (mean age 35.1 [SD=8.8], 58.1% female). Associations for birth order were as follows: First born (cases 38.8% vs. controls 50.2%, OR=1.0; Reference), second born (cases 29.9% vs. controls 32.9%, OR=1.6; 95% CI 0.7, 3.7), third born or higher (cases 31.3% vs. controls 16.8%, OR=2.5; 95% CI 1.0, 6.0). A linear trend was significant (p<0.05). Sibling number, sibling gender, having children, and number of children did not differ significantly between narcolepsy cases and controls. Conclusions Narcolepsy risk was significantly associated with higher birth order in this population-based study of genetically susceptible individuals. This finding supports an environmental influence on narcolepsy risk through an autoimmune mechanism, early childhood infections, or both. PMID:22281000

  7. Sleep-stage sequencing of sleep-onset REM periods in MSLT predicts treatment response in patients with narcolepsy.

    PubMed

    Drakatos, Panagis; Patel, Kishankumar; Thakrar, Chiraag; Williams, Adrian J; Kent, Brian D; Leschziner, Guy D

    2016-04-01

    Current treatment recommendations for narcolepsy suggest that modafinil should be used as a first-line treatment ahead of conventional stimulants or sodium oxybate. In this study, performed in a tertiary sleep disorders centre, treatment responses were examined following these recommendations, and the ability of sleep-stage sequencing of sleep-onset rapid eye movement periods in the multiple sleep latency test to predict treatment response. Over a 3.5-year period, 255 patients were retrospectively identified in the authors' database as patients diagnosed with narcolepsy, type 1 (with cataplexy) or type 2 (without) using clinical and polysomnographic criteria. Eligible patients were examined in detail, sleep study data were abstracted and sleep-stage sequencing of sleep-onset rapid eye movement periods were analysed. Response to treatment was graded utilizing an internally developed scale. Seventy-five patients were included (39% males). Forty (53%) were diagnosed with type 1 narcolepsy with a mean follow-up of 2.37 ± 1.35 years. Ninety-seven percent of the patients were initially started on modafinil, and overall 59% reported complete response on the last follow-up. Twenty-nine patients (39%) had the sequence of sleep stage 1 or wake to rapid eye movement in all of their sleep-onset rapid eye movement periods, with most of these diagnosed as narcolepsy type 1 (72%). The presence of this specific sleep-stage sequence in all sleep-onset rapid eye movement periods was associated with worse treatment response (P = 0.0023). Sleep-stage sequence analysis of sleep-onset rapid eye movement periods in the multiple sleep latency test may aid the prediction of treatment response in narcoleptics and provide a useful prognostic tool in clinical practice, above and beyond their classification as narcolepsy type 1 or 2. PMID:26541241

  8. Current medical treatment in pediatric urolithiasis

    PubMed Central

    Akın, Yiğit; Uçar, Murat; Yücel, Selçuk

    2013-01-01

    Although the prevalence of urolithiasis is nearly 2–3% in childhood, the risk of recurrence may range from 6.5–54%. There has been an increase in urinary stone disease among pediatric age groups, and stone disease has a multifactorial etiology. After the diagnosis, detailed metabolic evaluation is required. High recurrence rates, therapeutic irregularities and deficiency in diagnosis may lead to comorbidities such as loss of kidney function. Following diagnosis, the requirement for surgery, such as stone extraction and correction of anatomical anomalies, is determined. Medical and supportive treatments are also needed to prevent recurrence and urinary tract infections and to preserve renal function. Supportive care includes increased fluid intake and dietary modifications. Medical treatment is dependent on the cause of the urinary stone disease. The morbidities associated with pediatric urolithiasis can be prevented by early diagnosis, detailed metabolic analysis, regular follow-up and medical treatment protocols. PMID:26328120

  9. Priorities in pediatric epilepsy research

    PubMed Central

    Baca, Christine B.; Loddenkemper, Tobias; Vickrey, Barbara G.; Dlugos, Dennis

    2013-01-01

    The Priorities in Pediatric Epilepsy Research workshop was held in the spirit of patient-centered and patient-driven mandates for developing best practices in care, particularly for epilepsy beginning under age 3 years. The workshop brought together parents, representatives of voluntary advocacy organizations, physicians, allied health professionals, researchers, and administrators to identify priority areas for pediatric epilepsy care and research including implementation and testing of interventions designed to improve care processes and outcomes. Priorities highlighted were 1) patient outcomes, especially seizure control but also behavioral, academic, and social functioning; 2) early and accurate diagnosis and optimal treatment; 3) role and involvement of parents (communication and shared decision-making); and 4) integration of school and community organizations with epilepsy care delivery. Key factors influencing pediatric epilepsy care included the child's impairments and seizure presentation, parents, providers, the health care system, and community systems. Care was represented as a sequential process from initial onset of seizures to referral for comprehensive evaluation when needed. We considered an alternative model in which comprehensive care would be utilized from onset, proactively, rather than reactively after pharmacoresistance became obvious. Barriers, including limited levels of evidence about many aspects of diagnosis and management, access to care—particularly epilepsy specialty and behavioral health care—and implementation, were identified. Progress hinges on coordinated research efforts that systematically address gaps in knowledge and overcoming barriers to access and implementation. The stakes are considerable, and the potential benefits for reduced burden of refractory epilepsy and lifelong disabilities may be enormous. PMID:23966254

  10. Pediatric urologic radiology. Intervention and endourology

    SciTech Connect

    Mandell, V.S.; Mandell, J.; Gaisie, G.

    1985-02-01

    Over the past 10 years new imaging and interventional techniques have drastically changed the ease and scope of urologic diagnosis and treatment. It is both rewarding and exciting to approach each clinical problem with a broad armamentarium of available studies, always seeking the most efficient and direct route to diagnosis. Similarly, radiologic interventional techniques are potentially applicable to a multitude of problems and should be innovatively considered in the urologic patient including patients in the pediatric age group.

  11. Memory and Learning in Pediatric Bipolar Disorder.

    ERIC Educational Resources Information Center

    McClure, Erin B.; Treland, Julia E.; Snow, Joseph; Dickstein, Daniel P.; Towbin, Kenneth E.; Charney, Dennis S.; Pine, Daniel S.; Leibenluft, Ellen

    2005-01-01

    Objective: To test the hypothesis that patients with pediatric bipolar disorder (PBPD) would demonstrate impairment relative to diagnosis-free controls of comparable age, gender, and IQ on measures of memory functioning. Method: The authors administered a battery of verbal and visuospatial memory tests to 35 outpatients with PBPD and 20 healthy…

  12. Pediatric Mixed Connective Tissue Disease.

    PubMed

    Berard, Roberta A; Laxer, Ronald M

    2016-05-01

    Pediatric-onset mixed connective tissue disease is among the rare disease entities in pediatric rheumatology and includes features of arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, and systemic sclerosis. Accurate recognition and diagnosis of the disease is paramount to prevent long-term morbidity. Advances in the genetic and immunologic understanding of the factors involved in the etiopathogenesis provide an opportunity for improvements in prognostication and targeted therapy. The development of a multinational cohort of patients with mixed connective tissue disease would be invaluable to provide more updated data regarding the clinical presentation, to develop a standardized treatment approach, disease activity and outcome tools, and to provide data on long-term outcomes and comorbidities. PMID:27032791

  13. Pediatric Sinusitis

    MedlinePlus

    ... scan may help to determine how completely your child's sinuses are developed, where any blockage has occurred, and confirm the diagnosis of sinusitis. The doctor may look for factors that make your child more likely to get sinus infection, including structural ...

  14. Polysomnographic Assessment of Sleep Comorbidities in Drug-Naïve Narcolepsy-Spectrum Disorders--A Japanese Cross-Sectional Study.

    PubMed

    Sasai-Sakuma, Taeko; Kinoshita, Akihiko; Inoue, Yuichi

    2015-01-01

    This is a large cross-sectional study which aimed to investigate comorbidity rate, degree of sleep-related breathing disorder, polysomnigraphically diagnosible rapid eye movement sleep behavior disorder/rapid eye movement sleep without atonia and periodic limb movements during sleep in Japanese drug-naïve patients with narcolepsy-spectrum disorders. A total of 158 consecutive drug naïve patients with narcolepsy with cataplexy, 295 patients with narcolepsy without cataplexy and 395 patients with idiopathic hypersomnia without long sleep time were enrolled. From retrospectively analyzed data of nocturnal polysomnography and multiple sleep latency test, higher rates of periodic limb movements during sleep (> = 15 h(-1)) (10.2%) and polysomnographically diagnosable rapid eye movement sleep behavior disorder (1.9%) were found in patients with narcolepsy with cataplexy. They had more severe periodic limb movements during sleep especially during rapid eye movement sleep and higher percentages of rapid eye movement sleep without atonia than the other two patient groups. In the present large sample study, Japanese drug naïve patients with narcolepsy with cataplexy showed the highest comorbidity rates of periodic limb movements during sleep, polysomnographically diagnosable rapid eye movement sleep behavior disorder and rapid eye movement sleep without atonia among those with the other narcolepsy-spectrum disorders; the rates were lower than those for Western patients. PMID:26322978

  15. Polysomnographic Assessment of Sleep Comorbidities in Drug-Naïve Narcolepsy-Spectrum Disorders—A Japanese Cross-Sectional Study

    PubMed Central

    2015-01-01

    This is a large cross-sectional study which aimed to investigate comorbidity rate, degree of sleep-related breathing disorder, polysomnigraphically diagnosible rapid eye movement sleep behavior disorder/rapid eye movement sleep without atonia and periodic limb movements during sleep in Japanese drug-naïve patients with narcolepsy-spectrum disorders. A total of 158 consecutive drug naïve patients with narcolepsy with cataplexy, 295 patients with narcolepsy without cataplexy and 395 patients with idiopathic hypersomnia without long sleep time were enrolled. From retrospectively analyzed data of nocturnal polysomnography and multiple sleep latency test, higher rates of periodic limb movements during sleep (> = 15 h-1) (10.2%) and polysomnographically diagnosable rapid eye movement sleep behavior disorder (1.9%) were found in patients with narcolepsy with cataplexy. They had more severe periodic limb movements during sleep especially during rapid eye movement sleep and higher percentages of rapid eye movement sleep without atonia than the other two patient groups. In the present large sample study, Japanese drug naïve patients with narcolepsy with cataplexy showed the highest comorbidity rates of periodic limb movements during sleep, polysomnographically diagnosable rapid eye movement sleep behavior disorder and rapid eye movement sleep without atonia among those with the other narcolepsy-spectrum disorders; the rates were lower than those for Western patients. PMID:26322978

  16. Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss?

    PubMed

    Fontana, Adriano; Gast, Heidemarie; Reith, Walter; Recher, Mike; Birchler, Thomas; Bassetti, Claudio L

    2010-05-01

    Human narcolepsy with cataplexy is a neurological disorder, which develops due to a deficiency in hypocretin producing neurons in the hypothalamus. There is a strong association with human leucocyte antigens HLA-DR2 and HLA-DQB1*0602. The disease typically starts in adolescence. Recent developments in narcolepsy research support the hypothesis of narcolepsy being an immune-mediated disease. Narcolepsy is associated with polymorphisms of the genes encoding T cell receptor alpha chain, tumour necrosis factor alpha and tumour necrosis factor receptor II. Moreover the rate of streptococcal infection is increased at onset of narcolepsy. The hallmarks of anti-self reactions in the tissue--namely upregulation of major histocompatibility antigens and lymphocyte infiltrates--are missing in the hypothalamus. These findings are questionable because they were obtained by analyses performed many years after onset of disease. In some patients with narcolepsy autoantibodies to Tribbles homolog 2, which is expressed by hypocretin neurons, have been detected recently. Immune-mediated destruction of hypocretin producing neurons may be mediated by microglia/macrophages that become activated either by autoantigen specific CD4(+) T cells or superantigen stimulated CD8(+) T cells, or independent of T cells by activation of DQB1*0602 signalling. Activation of microglia and macrophages may lead to the release of neurotoxic molecules such as quinolinic acid, which has been shown to cause selective destruction of hypocretin neurons in the hypothalamus. PMID:20403960

  17. Pediatric diagnostic imaging

    SciTech Connect

    Gyll, C.; Blake, N.S.

    1986-01-01

    This book treats the practical problems of pediatric radiography and radiological procedures. Written jointly by a radiographer and a radiologist, it covers pediatric positioning and procedures. An extended chapter covers neonatal radiography and radiology.

  18. Pediatric Endocrinology Nurses Society

    MedlinePlus

    ... International Welcome to PENS The Pediatric Endocrinology Nursing Society (PENS) is committed to the development and advancement ... PENS@kellencompany.com • Copyright © 2016 Pediatric Endocrinology Nursing Society • ALL RIGHTS RESERVED • Privacy Policy • Admin

  19. Levo(−) amphetamine and dextro(+) amphetamine in the treatment of narcolepsy

    PubMed Central

    Parkes, J. D.; Fenton, G. W.

    1973-01-01

    The narcoleptic syndrome is a life-long and sometimes familial disorder in which there is a disturbance of the rapid eye movement phase of sleep. Patients with periodic sleep in the daytime but no other symptoms seldom develop the narcoleptic syndrome and have a separate unrelated disorder. Twelve patients with the narcoleptic syndrome were treated separately with l(−) amphetamine and d(+) amphetamine. Both drugs abolished narcolepsy, d(+) amphetamine being slightly more potent than l(−) amphetamine. In equipotent doses, unwanted effects of nervousness and insomnia were equal in frequency. No tolerance to either preparation developed during a six month period. Cataplexy was not affected by amphetamine treatment, but was abolished in two patients when clomipramine was given together with either amphetamine. PMID:4359162

  20. Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus

    PubMed Central

    Mayo, Mary Catherine; Deng, Jane C.; Albores, Jeffrey; Zeidler, Michelle; Harper, Ronald M.; Avidan, Alon Y.

    2015-01-01

    We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis. Citation: May MC, Deng JC, Albores J, Zeidler M, Harper RM, Avidan AY. Hypocretin deficiency associated with narcolepsy type 1 and central hypoventilation syndrome in neurosarcoidosis of the hypothalamus. J Clin Sleep Med 2015;11(9):1063–1065. PMID:25979096

  1. Clinical applications of sodium oxybate (GHB): from narcolepsy to alcohol withdrawal syndrome.

    PubMed

    Busardò, F P; Kyriakou, C; Napoletano, S; Marinelli, E; Zaami, S

    2015-12-01

    Gamma-hydroxybutyrate (GHB) is a short chain fatty acid endogenously produced within the central nervous system (CNS) and acts as a precursor and metabolite of the inhibitory neurotransmitter γ-aminobutyric acid (GABA). Although, it is an illegal recreational drug of abuse, its sodium salt (sodium oxybate) has been utilized as a medication for a number of medical conditions. The first aim of this review was to focus on current applications of sodium oxybate for the treatment of narcolepsy, with a particular emphasis on the key symptoms of this disorder: cataplexy and excessive daytime sleepiness (EDS). Secondly, the effectiveness of sodium oxybate therapy for the treatment of alcohol withdrawal syndrome (AWS) and the maintenance of alcohol abstinence has been assessed. Nowadays, sodium oxybate is the first-line treatment for narcolepsy and it is highly effective in meliorating sleep architecture, decreasing EDS and the frequency of cataplexy attacks in narcoleptic patients. Sodium oxybate currently finds also application in the treatment of AWS and the maintenance of alcohol abstinence in alcoholics. Most of the studies evaluating the efficacy of GHB in the treatment of AWS use a dosage of 50 mg/kg divided in three or four administrations per day. Human studies showed that GHB (dose of 50 mg/kg, divided in three administrations per day) is capable to increase the number of abstinent days, reduce alcohol craving and decrease the number of drinks per day. However, there is limited randomized evidence and, thus, GHB cannot be reliably compared to clomethiazole or benzodiazepines. Some randomized data suggest that GHB is better than naltrexone and disulfiram regarding abstinence maintenance and prevention of craving in the medium term i.e. 3-12 months. It is recommended that GHB should be used only under strict medical supervision, since concerns about the abuse/misuse of the drug and the addiction potential have been arisen. PMID:26698265

  2. Environmental toxins and risk of narcolepsy among people with HLA DQB1*0602.

    PubMed

    Ton, Thanh G N; Longstreth, W T; Koepsell, Thomas D

    2010-08-01

    One etiologic model for narcolepsy suggests that some environmental toxin selectively and irreversibly destroys hypocretin-producing cells in individuals with human leukocyte antigen (HLA) DQB1(*)0602. Between 2001 and 2005, the authors conducted a population-based case-control study in King County, Washington to examine narcolepsy risk in relation to toxins found in jobs, hobbies, and other non-vocational activities. Sixty-seven cases and 95 controls were enrolled; all were between ages 18 and 50 and positive for HLA DQB1(*)0602. All were administered in-person interviews about jobs, hobbies or other non-vocational activities before age 21. All analyses were adjusted for African-American race and income. Risk increased significantly for jobs involving heavy metals (odds ratio [OR]=4.7; 95% confidence interval [CI]: 1.5, 14.5) and for highest levels of exposure to woodwork (OR: 3.0; 95% CI: 1.0, 8.9), fertilizer (OR=3.1; 95% CI: 1.1, 9.1), and bug or weed killer (OR=4.5; 95% CI: 1.5, 13.4). Associations were of borderline significance for activities involving ceramics, pesticides, and painting projects. Significant dose-response relationships were evident for jobs involving metals (p<0.03), paints (p<0.03), and bug or weed killer (p<0.02). Additional studies are needed to replicate these findings and continue the search for specific toxins that could damage hypocretin neurons in genetically susceptible people. PMID:20519130

  3. Time-on-task decrements in "steer clear" performance of patients with sleep apnea and narcolepsy

    NASA Technical Reports Server (NTRS)

    Findley, L. J.; Suratt, P. M.; Dinges, D. F.

    1999-01-01

    Loss of attention with time-on-task reflects the increasing instability of the waking state during performance in experimentally induced sleepiness. To determine whether patients with disorders of excessive sleepiness also displayed time-on-task decrements indicative of wake state instability, visual sustained attention performance on "Steer Clear," a computerized simple RT driving simulation task, was compared among 31 patients with untreated sleep apnea, 16 patients with narcolepsy, and 14 healthy control subjects. Vigilance decrement functions were generated by analyzing the number of collisions in each of six four-minute periods of Steer Clear task performance in a mixed-model analysis of variance and linear regression equations. As expected, patients had more Steer Clear collisions than control subjects (p=0.006). However, the inter-subject variability in errors among the narcoleptic patients was four-fold that of the apnea patients, and 100-fold that of the controls volunteers; the variance in errors among untreated apnea patients was 27-times that of controls. The results of transformed collision data revealed main effects for group (p=0.006), time-on-task (p=0.001), and a significant interaction (p=0.022). Control subjects showed no clear evidence of increasing collision errors with time-on-task (adjusted R2=0.22), while apnea patients showed a trend toward vigilance decrement (adjusted R2=0.42, p=0.097), and narcolepsy patients evidenced a robust linear vigilance decrement (adjusted R2=0.87, p=0.004). The association of disorders of excessive somnolence with escalating time-on-task decrements makes it imperative that when assessment of neurobehavioral performance is conducted in patients, it involves task durations and analyses that will evaluate the underlying vulnerability of potentially sleepy patients to decrements over time in tasks that require sustained attention and timely responses, both of which are key components in safe driving performance.

  4. Nuclear imaging in pediatrics

    SciTech Connect

    Siddiqui, A.R.

    1985-01-01

    The author's intent is to familiarize practicing radiologists with the technical aspects and interpretation of nuclear medicine procedures in children and to illustrate the indications for nuclear medicine procedures in pediatric problems. Pediatric doses, dosimetry, sedation, and injection techniques, organ systems, oncology and infection, testicular scanning and nuclear crystography, pediatric endocrine and skeletal systems, ventilation and perfusion imaging of both congenital and acquired pediatric disorders, cardiovascular problems, gastrointestinal, hepatobiliary, reticuloendothelial studies, and central nervous system are all topics which are included and discussed.

  5. Pediatric surgical pathology. Second edition

    SciTech Connect

    Dehner, L.P.

    1987-01-01

    The edition provides view of congenital, hereditary, infectious, and inflammatory neoplastic diseases occurring during the first two decades of life, with special reference to clinical, laboratory, and roentgenographic features. Material includes observations from some of the major national studies on Wilms' tumor and rhabdomyosarcomas, the new classification of pediatric malignant lymphomas, a discussion of the role of immunocytochemistry as it applies to the diagnosis of childhood infections and neoplasms, an examination of graft-versus-host disease in the liver and intestinal tract and more.

  6. Pediatric genetic disorders of lens

    PubMed Central

    Nihalani, Bharti R.

    2014-01-01

    Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral cataracts require a comprehensive history, ophthalmic and systemic examination to guide further genetic evaluation. With advancements in genetics, it is possible to determine the genetic mutations and assess phenotype genotype correlation in different lens disorders. The genetic diagnosis helps the families to better understand the disorder and develop realistic expectations as to the course of their child's disorder.

  7. Clinical recommendation: pediatric lichen sclerosus.

    PubMed

    Bercaw-Pratt, Jennifer L; Boardman, Lori A; Simms-Cendan, Judith S

    2014-04-01

    Lichen sclerosus is a chronic inflammatory condition affecting the anogenital region that may present in the prepubertal or adolescent patient. Clinical presentations include significant pruritus, labial adhesions, and loss of pigmentation. Treatment includes topical anti-inflammatory agents and long-term follow-up as there is a high risk of recurrence and an increased risk of vulvar cancer in adult women with history of lichen sclerosus. These recommendations are intended for pediatricians, gynecologists, nurse practitioners and others who care for pediatric/adolescent girls in order to facilitate diagnosis and treatment. PMID:24602304

  8. Rapidly evolving narcolepsy-like syndrome coinciding with severe OSA following pharyngoplasty in Prader-Willi syndrome.

    PubMed

    Blecher, Gregory; Wainbergas, Natalie; McGlynn, Michael; Teng, Arthur

    2014-09-01

    Our patient with Prader-Willi syndrome (PWS) not only displayed many typical syndromic features but also presented several unique challenges, with gross velopharyngeal insufficiency necessitating repair and severe obstructive sleep apnea developing thereafter, requiring ongoing non-invasive ventilation. This coincided with development of a narcolepsy-like syndrome, treated with dexamphetamine. Cataplexy, hypnogogic/hypnopompic hallucinations, sleep paralysis were absent and HLA-DQB1*06:02 was negative. Growth hormone (GH) therapy was commenced at 8 months of age and, as recommended, regular polysomnograms were conducted. Adenotonsillar growth on GH therapy is reported as well as several reports of sudden death in PWS patients on GH. Despite GH, lifestyle measures with regular dietician review, and an exercise program, there was progressive excessive weight gain. Our patient also developed moderate tonsil hypertrophy. To our knowledge, this is the first case report of severe obstructive sleep apnea secondary to sphincter pharyngoplasty coinciding with rapidly evolving narcolepsy-like syndrome. PMID:25473585

  9. [Exhaled nitric oxide in pediatric asthma].

    PubMed

    Alvarez Caro, Francisco; Pérez Guirado, Alejandro; Ruiz Del Árbol Sánchez, Paloma; de Miguel Mallén, Angeles; Alvarez Berciano, Francisco

    2010-12-01

    Exhaled nitric oxide has become a new diagnostic tool in pediatric daily practice. It provides valuable information on the nature of the underlying inflammation, being useful to establish the diagnosis and to differentiate which patients could benefit more from the anti-inflammatory treatment. As well, it can be useful in predicting asthmatic exacerbations and be used as a guide to make therapeutic modifications. Taking everything to account, the pediatrician has to know its interpretation and its applications. This manuscript reviews the main applications of exhaled nitric oxide in pediatric asthma. PMID:21132252

  10. Irritability in Pediatric Patients: Normal or Not?

    PubMed Central

    Hameed, Usman; Dellasega, Cheryl A.

    2016-01-01

    The goal of this article is to describe the concept of irritability in children and youth, which has been revisited in the DSM-5. Traditionally, this behavior has been more commonly associated with mood disorders, which may account for the rising incidence of bipolar disorder diagnosis and overuse of mood-stabilizing medications in pediatric patients. While not predictive of mania, persistent nonepisodic irritability, if undetected, may escalate to violent behavior with potentially serious outcomes. It is therefore important to educate clinicians about how to accurately assess irritability in pediatric patients. PMID:27486529

  11. Gout in pediatric renal transplant recipients.

    PubMed

    Trück, Johannes; Laube, Guido F; von Vigier, Rodo O; Goetschel, Philippe

    2010-12-01

    Clinical gout has rarely been described after pediatric renal transplantation (RTx), although asymptomatic hyperuricemia is common in these patients. We describe three male pediatric patients who presented with gouty arthritis 7-8.5 years following RTx. Since receiving allopurinol, all patients had been free of gouty symptoms. To prevent severe bone marrow depletion, the dosage of azathioprine, an immunosupressant drug, was reduced by 50% to prevent interaction with allopurinol. Because atypical presentation of gout can occur, a high index of suspicion is needed to allow appropriate diagnosis of this disease in patients with skeletal pain after RTx. PMID:20640905

  12. Comparing Treatment Effect Measurements in Narcolepsy: The Sustained Attention to Response Task, Epworth Sleepiness Scale and Maintenance of Wakefulness Test

    PubMed Central

    van der Heide, Astrid; van Schie, Mojca K.M.; Lammers, Gert Jan; Dauvilliers, Yves; Arnulf, Isabelle; Mayer, Geert; Bassetti, Claudio L.; Ding, Claire-Li; Lehert, Philippe; van Dijk, J. Gert

    2015-01-01

    Study Objectives: To validate the Sustained Attention to Response Task (SART) as a treatment effect measure in narcolepsy, and to compare the SART with the Maintenance of Wakefulness Test (MWT) and the Epworth Sleepiness Scale (ESS). Design: Validation of treatment effect measurements within a randomized controlled trial (RCT). Patients: Ninety-five patients with narcolepsy with or without cataplexy. Interventions: The RCT comprised a double-blind, parallel-group, multicenter trial comparing the effects of 8-w treatments with pitolisant (BF2.649), modafinil, or placebo (NCT01067222). MWT, ESS, and SART were administered at baseline and after an 8-w treatment period. The severity of excessive daytime sleepiness and cataplexy was also assessed using the Clinical Global Impression scale (CGI-C). Measurements and Results: The SART, MWT, and ESS all had good reliability, obtained for the SART and MWT using two to three sessions in 1 day. The ability to distinguish responders from nonresponders, classified using the CGI-C score, was high for all measures, with a high performance for the SART (r = 0.61) and the ESS (r = 0.54). Conclusions: The Sustained Attention to Response Task is a valid and easy-to-administer measure to assess treatment effects in narcolepsy, enhanced by combining it with the Epworth Sleepiness Scale. Citation: van der Heide A, van Schie MK, Lammers GJ, Dauvilliers Y, Arnulf I, Mayer G, Bassetti CL, Ding CL, Lehert P, van Dijk JG. Comparing treatment effect measurements in narcolepsy: the Sustained Attention to Response Task, Epworth Sleepiness Scale and Maintenance of Wakefulness Test. SLEEP 2015;38(7):1051–1058. PMID:25902810

  13. Toward an Evidence-Based Assessment of Pediatric Bipolar Disorder

    ERIC Educational Resources Information Center

    Youngstrom, Eric A.; Findling, Robert L.; Kogos Youngstrom, Jen; Calabrese, Joseph R.

    2005-01-01

    This article outlines a provisional evidence-based approach to the assessment of pediatric bipolar disorder (PBD). Public attention to PBD and the rate of diagnosis have both increased substantially in the past decade. Accurate diagnosis is crucial to avoid harm due to mislabeling or unnecessary medication exposure. Because there are no proven…

  14. Odontogenic lesions in pediatric patients.

    PubMed

    Fang, Qi-Gen; Shi, Shuang; Sun, Chang-Fu

    2014-05-01

    The purpose was to evaluate our 20-year experience of pediatric odontogenic lesions. Pediatric patients with a diagnosis of odontogenic lesion were identified. Three hundred ten patients were odontogenic; dentigerous cyst was seen in 62.0% of the cases. Most (70.2%) of them occurred in mixed dentition period, and it had a male preponderance. Odontogenic keratocystic tumor occurred in the permanent dentition period. It had an equal site distribution. Odontoma was seen in 20.0% of the cases. Its site of predilection was the mandible. Ameloblastoma was the most common odontogenic tumor. Most of the cases occurred in the permanent dentition period. It affected the male and female equally. Calcifying epithelioma odontogenic tumor was seen in 11.8% of the cases. All the lesions occurred in the primary dentition period. It had no sex or site preponderance. Myxoma was seen in 3.6% of the cases. It was most common in the permanent dentition period, and it was more frequent in the male. Iliac crest bone graft was successfully performed in 28 patients, postoperative infection occurred in 2 patients, and no donor-site dysfunctions were reported. The observed differences in lesion type and distribution in this study compared with previous researches may be attributable to genetic and geographic variation in the populations studied. Iliac crest bone graft was suggested for pediatric mandible reconstruction. PMID:24785745

  15. Caffey's pediatric X-ray diagnosis

    SciTech Connect

    Silverman, F.N.

    1984-01-01

    This edition contains approximately 3,000 photographs in two volumes. There are sections on the chest, heart, urogenital and skeletal systems with special attention given to the skeletal dyplasias. General radiography is represented and computed tomography, ultrasound, radionuclide scintigraphy and standard angiography are all used extensively in this work. Anatomical variants that may simulate disease are explored through detailed discussion.

  16. REDUCING GONAD IRRADIATION IN PEDIATRIC DIAGNOSIS

    PubMed Central

    Bishop, Harry A.; Webber, Milo; O'Loughlin, Bernard J.

    1959-01-01

    The greatest danger of carcinogenesis and of genetic damage through diagnostic radiologic procedures is in children, whose smaller bodies are more vulnerable and who have a longer life span in which this damage can be realized. Film badges placed on the gonad area during radiologic studies indicated widely varying degrees of gonad irradiation from similar procedures. These results emphasize the importance of technique in protecting children from unnecessary exposure. Such exposure can be reduced by greater beam filtration, use of higher tube potentials, careful beam collimation and centering, closer coning and shielding of the gonads. A new film tested reduced exposure time by 50 per cent. Further reduction was obtained by high-speed screens. A most important measure is avoidance of unnecessary, repetitious and undiagnostic studies. Fluoroscopy should be avoided if possible. If not, the operator must dark-adapt his eyes, use the smallest possible current, the narrowest beam, and the shortest exposure time. Image intensification promotes these aims. Modern equipment, properly shielded, assures against unsuspected exposure. PMID:13618739

  17. The Nightly Use of Sodium Oxybate Is Associated with a Reduction in Nocturnal Sleep Disruption: A Double-Blind, Placebo-Controlled Study in Patients with Narcolepsy

    PubMed Central

    Black, Jed; Pardi, Daniel; Hornfeldt, Carl S.; Inhaber, Neil

    2010-01-01

    Objective: To further explore the effects of sodium oxybate (SXB) administration on nocturnal sleep in narcolepsy patients during a double-blind, placebo-controlled, parallel group study conducted with 228 adult patients with narcolepsy/cataplexy in the United States, Canada, and Europe. Method: Patients were withdrawn from antidepressants and sedative/hypnotics, and then randomized to receive 4.5, 6, or 9 g SXB or placebo nightly for 8 weeks. Patients receiving 6 and 9 g/night doses were titrated to their final dose in weekly 1.5 g increments, while patients receiving placebo were randomized to undergo a similar mock dose titration. The use of stimulant therapy continued unchanged. Changes in sleep architecture were measured using centrally scored nocturnal polysomnograms. Daily diaries were used to record changes in narcolepsy symptoms and adverse events. Results: Following 8 weeks of SXB treatment, study patients demonstrated significant dose-related increases in the duration of stage 3 and 4 sleep, reaching a median increase of 52.5 minutes in patients receiving 9 g nightly. Compared to placebo-treated patients, delta power was significantly increased in all dose groups. Stage 1 sleep and the frequency of nocturnal awakenings were each significantly decreased at the 6 and 9 g/night doses. The changes in nocturnal sleep coincided with significant decreases in the severity and frequency of narcolepsy symptoms. Conclusions: The nightly administration of SXB to narcolepsy patients significantly impacts measures of slow wave sleep, wake after sleep onset, awakenings, total sleep time, and stage 1 sleep in a dose-related manner. The frequency and severity of narcolepsy symptoms decreased with treatment. Citation: Black J; Pardi D; Hornfeldt CS; Inhaber N. The nightly use of sodium oxybate is associated with a reduction in nocturnal sleep disruption: a double-blind, placebo-controlled study in patients with narcolepsy. J Clin Sleep Med 2010;6(6):596-602. PMID:21206549

  18. White Paper on P4 Concepts for Pediatric Imaging.

    PubMed

    Daldrup-Link, Heike E; Sammet, Christina; Hernanz-Schulman, Marta; Barsness, Katherine A; Cahill, Anne Marie; Chung, Ellen; Doria, Andrea S; Darge, Kassa; Krishnamurthy, Rajesh; Lungren, Matthew P; Moore, Sheila; Olivieri, Laura; Panigrahy, Ashok; Towbin, Alexander J; Trout, Andrew; Voss, Stephan

    2016-05-01

    Over the past decade, innovations in the field of pediatric imaging have been based largely on single-center and retrospective studies, which provided limited advances for the benefit of pediatric patients. To identify opportunities for potential "quantum-leap" progress in the field of pediatric imaging, the ACR-Pediatric Imaging Research (PIR) Committee has identified high-impact research directions related to the P4 concept of predictive, preventive, personalized, and participatory diagnosis and intervention. Input from 237 members of the Society for Pediatric Radiology was clustered around 10 priority areas, which are discussed in this article. Needs within each priority area have been analyzed in detail by ACR-PIR experts on these topics. By facilitating work in these priority areas, we hope to revolutionize the care of children by shifting our efforts from unilateral reaction to clinical symptoms, to interactive maintenance of child health. PMID:26850380

  19. Gastroesophageal scintiscanning in a pediatric population: dosimetry

    SciTech Connect

    Castronovo, F.P. Jr.

    1986-07-01

    The dosimetry associated with orally administered (/sup 99m/Tc)sulfur colloid for the diagnosis of gastroesophageal reflux has not been adequately described for the pediatric populations. Standard MIRD methodology was performed for the following: newborn, 1, 5, 10, and 15 yr old, and adult standard man. The critical organ for all pediatric groups was the lower large intestine with absorbed dose of 0.927, 0.380, 0.194, 0.120 and 0.0721 rad/100 microCi, respectively. For the adult the critical organ was the upper large intestine with an absorbed dose of 0.0518 rad/100 microCi. These data should be considered when administering (99mTc)sulfur colloid orally in a pediatric population.

  20. Nuclear Medicine Imaging in Pediatric Neurology

    PubMed Central

    Akdemir, Ümit Özgür; Atay Kapucu, Lütfiye Özlem

    2016-01-01

    Nuclear medicine imaging can provide important complementary information in the management of pediatric patients with neurological diseases. Pre-surgical localization of the epileptogenic focus in medically refractory epilepsy patients is the most common indication for nuclear medicine imaging in pediatric neurology. In patients with temporal lobe epilepsy, nuclear medicine imaging is particularly useful when magnetic resonance imaging findings are normal or its findings are discordant with electroencephalogram findings. In pediatric patients with brain tumors, nuclear medicine imaging can be clinically helpful in the diagnosis, directing biopsy, planning therapy, differentiating tumor recurrence from post-treatment sequelae, and assessment of response to therapy. Among other neurological diseases in which nuclear medicine has proved to be useful are patients with head trauma, inflammatory-infectious diseases and hypoxic-ischemic encephalopathy. PMID:27299282

  1. Importance of genetic evaluation and testing in pediatric cardiomyopathy.

    PubMed

    Tariq, Muhammad; Ware, Stephanie M

    2014-11-26

    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotype-phenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children. PMID:25429328

  2. Almorexant Promotes Sleep and Exacerbates Cataplexy in a Murine Model of Narcolepsy

    PubMed Central

    Black, Sarah Wurts; Morairty, Stephen R.; Fisher, Simon P.; Chen, Tsui-Ming; Warrier, Deepti R.; Kilduff, Thomas S.

    2013-01-01

    Study Objectives: Humans with narcolepsy and orexin/ataxin-3 transgenic (TG) mice exhibit extensive, but incomplete, degeneration of hypo-cretin (Hcrt) neurons. Partial Hcrt cell loss also occurs in Parkinson disease and other neurologic conditions. Whether Hcrt antagonists such as almorexant (ALM) can exert an effect on the Hcrt that remains after Hcrt neurodegeneration has not yet been determined. The current study was designed to evaluate the hypnotic and cataplexy-inducing efficacy of a Hcrt antagonist in an animal model with low Hcrt tone and compare the ALM efficacy profile in the disease model to that produced in wild-type (WT) control animals. Design: Counterbalanced crossover study. Setting: Home cage. Patients or Participants: Nine TG mice and 10 WT mice. Interventions: ALM (30, 100, 300 mg/kg), vehicle and positive control injections, dark/active phase onset. Measurements and Results: During the 12-h dark period after dosing, ALM exacerbated cataplexy in TG mice and increased nonrapid eye movement sleep with heightened sleep/wake fragmentation in both genotypes. ALM showed greater hypnotic potency in WT mice than in TG mice. The 100 mg/kg dose conferred maximal promotion of cataplexy in TG mice and maximal promotion of REM sleep in WT mice. In TG mice, ALM (30 mg/ kg) paradoxically induced a transient increase in active wakefulness. Core body temperature (Tb) decreased after acute Hcrt receptor blockade, but the reduction in Tb that normally accompanies the wake-to-sleep transition was blunted in TG mice. Conclusions: These complex dose- and genotype-dependent interactions underscore the importance of effector mechanisms downstream from Hcrt receptors that regulate arousal state. Cataplexy promotion by ALM warrants cautious use of Hcrt antagonists in patient populations with Hcrt neurodegeneration, but may also facilitate the discovery of anticataplectic medications. Citation: Black SW; Morairty SR; Fisher SP; Chen TM; Warrier DR; Kilduff TS. Almorexant

  3. Where are we in our understanding of the association between narcolepsy and one of the 2009 adjuvanted influenza A (H1N1) vaccines?

    PubMed

    Johansen, K; Brasseur, D; MacDonald, N; Nohynek, H; Vandeputte, J; Wood, D; Neels, P

    2016-07-01

    Evaluating new rare serious vaccine safety signals is difficult and complex work. To further assess the observed increase in narcolepsy cases seen in Europe with the 2009 pandemic H1N1 influenza vaccine, the International Alliance for Biological Standardization (IABS) invited a wide range of experts to a one day meeting in Geneva in October 2015 to present data and to discuss the implications. The presentations covered the following topics: clinical picture of childhood narcolepsy following the 2009 H1N1 pandemic vaccination campaigns; epidemiological studies conducted to assess the risk of narcolepsy, other neurological and immune-related diseases following 2009 pandemic H1N1 influenza vaccine; potential biases influencing the different epidemiological study designs; potential genetic contribution to the development of narcolepsy; potential biological mechanisms for development of narcolepsy in this setting including the role of the virus itself, antigenic differences between the vaccines and differences in AS03-adjuvanted vaccines. The presentations were followed by fulsome roundtable discussions. Members from affected families also attended and made informal comments to round out the day's deliberations. This meeting emphasized the value added in bringing together in a neutral setting a wide range of experts and vaccine producers to discuss such a complex new serious adverse event following immunization. PMID:27329008

  4. English Translations Of The First Clinical Reports On Narcolepsy And Cataplexy By Westphal And Gélineau In The Late 19th Century, With Commentary

    PubMed Central

    Schenck, Carlos H.; Bassetti, Claudio L.; Arnulf, Isabelle; Mignot, Emmanuel

    2007-01-01

    Study Objectives: To publish the first English translations, with commentary, of the original reports describing narcolepsy and cataplexy by Westphal in German (1877) and by Gélineau in French (1880). Methods: A professional translation service translated the 2 reports from either German or French to English, with each translation then being slightly edited by one of the authors. All authors then provided commentary. Results: Both Westphal and Gélineau correctly identified and described the new clinical entities of cataplexy and narcolepsy, with recurrent, self-limited sleep attacks and/or cataplectic attacks affecting 2 otherwise healthy people. Narcolepsy was named by Gélineau (and cataplexy was named by Henneberg in 1916). The evidence in both cases is sufficiently convincing to conclude that they were likely each HLA-DQB1*0602 positive and hypocretin deficient. Conclusions: The original descriptions of narcolepsy and cataplexy are now available in English, allowing for extensive clinical and historical commentary. Citations: Schenck CH; Bassetti CL; Arnulf I et al. English translations of the first clinical reports on narcolepsy and cataplexy by Westphal and Gélineau in the late 19th century, with commentary. J Clin Sleep Med 2007;3(3):301–311 PMID:17561602

  5. Magnetoencephalography in pediatric epilepsy

    PubMed Central

    Kim, Hunmin; Chung, Chun Kee

    2013-01-01

    Magnetoencephalography (MEG) records the magnetic field generated by electrical activity of cortical neurons. The signal is not distorted or attenuated, and it is contactless recording that can be performed comfortably even for longer than an hour. It has excellent and decent temporal resolution, especially when it is combined with the patient's own brain magnetic resonance imaging (magnetic source imaging). Data of MEG and electroencephalography are not mutually exclusive and it is recorded simultaneously and interpreted together. MEG has been shown to be useful in detecting the irritative zone in both lesional and nonlesional epilepsy surgery. It has provided valuable and additive information regarding the lesion that should be resected in epilepsy surgery. Better outcomes in epilepsy surgery were related to the localization of the irritative zone with MEG. The value of MEG in epilepsy surgery is recruiting more patients to epilepsy surgery and providing critical information for surgical planning. MEG cortical mapping is helpful in younger pediatric patients, especially when the epileptogenic zone is close to the eloquent cortex. MEG is also used in both basic and clinical research of epilepsy other than surgery. MEG is a valuable diagnostic modality for diagnosis and treatment, as well as research in epilepsy. PMID:24244211

  6. Pediatric sciatic neuropathies

    PubMed Central

    Ryan, M.M.; Escolar, D.M.; Darras, B.; Jones, H.R.

    2011-01-01

    Objective: The incidence, cause, and prognosis of sciatic neuropathy in children is not well understood. We report our 30-year experience of 53 patients with pediatric sciatic neuropathies (SN). Methods: Prospective review of the history, physical examination, electrophysiologic findings, and clinical course of children with SN. Results: The etiology of SN injury was varied and included trauma (13), iatrogenic causes (13) (8 orthopedic surgeries and 5 miscellaneous surgeries), prolonged extrinsic compression and immobilization (6), tumors (7), vascular (5), idiopathic and progressive (4), infantile and nonprogressive (2), and unknown, presumed postviral (3). Electrophysiologic studies demonstrated abnormalities in motor conduction studies of the peroneal nerve in 44/53 (83%) or tibial nerve in 35/51 (67%). Sensory conduction studies were abnormal in sural nerve in 34 of 43 cases (79%), and superficial peroneal nerves in 15/25 (60%). Needle EMG was abnormal in peroneal innervated muscles in all subjects, in tibial nerve innervated muscles in 43/51 (84%), and in the hamstrings in 18/29 (62%). Prognosis for recovery was variable and depended on the etiology and the severity of the nerve injury. Conclusions: SN is an uncommon mononeuropathy in children. The causes of SN are varied in children compared to adults. Electrophysiologic studies in children may be limited by poor tolerance but play an important role in establishing the diagnosis. PMID:21403109

  7. Pediatric cataract: challenges and future directions

    PubMed Central

    Medsinge, Anagha; Nischal, Ken K

    2015-01-01

    Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract. PMID:25609909

  8. Pediatric cataract: challenges and future directions.

    PubMed

    Medsinge, Anagha; Nischal, Ken K

    2015-01-01

    Cataract is a significant cause of visual disability in the pediatric population worldwide and can significantly impact the neurobiological development of a child. Early diagnosis and prompt surgical intervention is critical to prevent irreversible amblyopia. Thorough ocular evaluation, including the onset, duration, and morphology of a cataract, is essential to determine the timing for surgical intervention. Detailed assessment of the general health of the child, preferably in conjunction with a pediatrician, is helpful to rule out any associated systemic condition. Although pediatric cataracts have a diverse etiology, with the majority being idiopathic, genetic counseling and molecular testing should be undertaken with the help of a genetic counselor and/or geneticist in cases of hereditary cataracts. Advancement in surgical techniques and methods of optical rehabilitation has substantially improved the functional and anatomic outcomes of pediatric cataract surgeries in recent years. However, the phenomenon of refractive growth and the process of emmetropization have continued to puzzle pediatric ophthalmologists and highlight the need for future prospective studies. Posterior capsule opacification and secondary glaucoma are still the major postoperative complications necessitating long-term surveillance in children undergoing cataract surgery early in life. Successful management of pediatric cataracts depends on individualized care and experienced teamwork. We reviewed the etiology, preoperative evaluation including biometry, choice of intraocular lens, surgical techniques, and recent developments in the field of childhood cataract. PMID:25609909

  9. Epidemiologic insights into pediatric kidney stone disease.

    PubMed

    Matlaga, Brian R; Schaeffer, Anthony J; Novak, Thomas E; Trock, Bruce J

    2010-12-01

    The epidemiology of pediatric kidney stone has not yet been as rigorously defined as that of adult kidney stone disease. Herein, we review our recent epidemiologic works characterizing pediatric stone disease using the Kids' Inpatient Database (KID). Specifically we investigated the age and gender distribution of pediatric kidney stone disease, changes in disease prevalence over time, and medical comorbidities associated with this disorder. We identified patients by International Classification of Disease 9th Edition (ICD-9) codes for renal and ureteral calculi as the primary diagnosis. Medical comorbidities were identified using specific comorbidity software. Statistical comparisons between children with and without stone disease were performed. In the first decade of life, stone disease was more prevalent among males than females; however, in the second decade of life females were more commonly affected. Of note, there was a significant increase in treated stone disease across both genders between 1997 and 2003. We also found that the risk of kidney stone diagnosis in children younger than 6 years of age was significantly associated with hypertension and diabetes mellitus. The gender distribution among pediatric stone formers varies significantly by age, although overall females have a greater prevalence than males. There is also a strong association of stone disease and both diabetes and hypertension, although this was only observed in children less than 6 years of age. Taken all together, these findings suggest that urolithiasis in the young child is a complex systemic disease process. PMID:20967433

  10. Health care financing policy for hospitalized pediatric patients.

    PubMed

    Munoz, E; Chalfin, D; Goldstein, J; Lackner, R; Mulloy, K; Wise, L

    1989-03-01

    Prospective hospital payment systems using the federal Medicare DRG payment model are changing hospital reimbursement. Currently, many states have adopted diagnosis related group (DRG) prospective "all payer systems" using the federal model. All payer systems, whereby Medicaid, Blue Cross, and other commercial insurers pay by the DRG mode, prevent cost shifting between payers. New York state has used an all payer system since Jan 1, 1988. This study simulated DRG all payer methods for a large sample (N = 16,084) of pediatric patients for a three-year period using the New York DRG all payer reimbursement system now in effect. Medicaid pediatric patients had (adjusted for DRG weight index) a longer hospital stay and greater total hospital cost compared with pediatric patients from Blue Cross and other commercial payers. Medicaid pediatric patients also had a greater severity of illness compared with patients from Blue Cross and other payers. Pediatric patients in all payment groups (ie, Medicaid, Blue Cross, and other commercial insurers) generated financial risk under the DRG all payer scheme. Medicaid pediatric patients generated the greatest financial risk, however. These data suggest that state and private payers may be under-reimbursing for the care of the hospitalized pediatric patient using the DRG prospective hospital payment scheme. Health care financing policy for pediatric patients may limit both access and quality of care. PMID:2492754

  11. Increased Heart Rate Variability but Normal Resting Metabolic Rate in Hypocretin/Orexin-Deficient Human Narcolepsy

    PubMed Central

    Fronczek, Rolf; Overeem, Sebastiaan; Reijntjes, Robert; Lammers, Gert Jan; van Dijk, J. Gert; Pijl, Hanno

    2008-01-01

    Study Objectives: We investigated autonomic balance and resting metabolic rate to explore their possible involvement in obesity in hypocretin/orexin-deficient narcoleptic subjects. Methods: Resting metabolic rate (using indirect calorimetry) and variability in heart rate and blood pressure were determined in the fasted resting state. Subjects included 15 untreated, hypocretin-deficient male narcoleptics and 15 male controls matched for age and body mass index. Results: Spectral power analysis revealed greater heart rate and blood pressure variability in hypocretin-deficient male narcoleptic patients (heart rate: p = 0.01; systolic blood pressure: p = 0.02; diastolic: p < 0.01). The low to high frequency ratio of heart rate power did not differ between groups (p = 0.48), nor did resting metabolic rate (controls: 1767 ± 226 kcal/24 h; patients: 1766 ± 227 kcal/24h; p = 0.99). Conclusions: Resting metabolic rate was not reduced in hypocretin-deficient narcoleptic men and therefore does not explain obesity in this group. Whether the increased heart rate and blood pressure variability—suggesting reduced sympathetic tone—is involved in this regard remains to be elucidated. Citation: Fronczek R; Overeem S; Reijntjes R; Lammers GJ; van Dijk JG; Pijl H. Increased heart rate variability but normal resting metabolic rate in hypocretin/orexin-deficient human narcolepsy. J Clin Sleep Med 2008;4(3):248–254. PMID:18595438

  12. Sleep paralysis in narcolepsy: more than just a motor dissociative phenomenon?

    PubMed

    Terzaghi, Michele; Ratti, Pietro Luca; Manni, Francesco; Manni, Raffaele

    2012-02-01

    Sleep paralyses are viewed as pure motor phenomena featured by a dissociated state in which REM-related muscle atonia coexists with a wakefulness state of full consciousness. We present a 59-year-old man diagnosed with narcolepsy experiencing sleep paralysis, who failed to establish the boundaries between real experience and dream mentation during the paralysis: the patient's recall was indeed featured by uncertainty between real/unreal and awaken/dreaming. Hereby, we suggest that sleep paralysis may represent a more complex condition encompassing a dissociated state of mind together with the dissociative motor component. Neurophysiological data (spectral EEG analysis corroborated by cross-correlation analysis) reinforce the idea that the patient was in an intermediate state of mind between wake and REM sleep during the paralysis. The persistence of local impaired activity proper of REM sleep in cortical circuits necessary for self-reflective awareness and insight, in conflict with wakefulness-related activation of the remaining brain areas, could account for disrupted processing of afferent inputs in our patient, representing the underlying pathophysiologic substrate for patient's failure to establish the boundaries between real experience and dream mentation. PMID:21647627

  13. Obtaining genetic testing in pediatric epilepsy.

    PubMed

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy. PMID:26345167

  14. DISPARITIES IN PEDIATRIC ONCOLOGY PATIENT EDUCATION AND LINGUISTIC RESOURCES: RESULTS OF A NATIONAL SURVEY OF PEDIATRIC ONCOLOGISTS

    PubMed Central

    Slone, Jeremy S; Self, Elizabeth; Friedman, Debra; Heiman, Harry

    2013-01-01

    Background Extensive patient and family education is required at the time of a new diagnosis of pediatric cancer yet ittle data exist regarding the availability and linguistic competency of new cancer diagnosis education provided by pediatric oncology institutions. Procedure Using the American Society of Pediatric Hematology/Oncology (ASPHO) membership list, a web-based survey was conducted among a cohort of pediatric oncologists to determine pediatric oncologists’ assessment of institutional resources for new cancer diagnosis education and the availability of linguistically appropriate education. Results Of 1,294 ASPHO members sent email survey invitations, 573 (44.3%) responded with 429 meeting eligibility criteria. Oncologists at academic institutions reported their institutions had more availability of resources for new diagnosis education compared with those from non-academic institutions (Mean 78.6 vs. 74.3; 0 [not at all] – 100 [well equipped]; p=0.05). The mean score increased with volume of new cancer diagnoses/year: small (<75) = 73.4; medium (75 – 149) = 76.7; large (≥ 150) = 84.5 (p <0.001). Oncologists at large volume institutions reported more availability of an established patient education protocol (50.8% vs. 38.1%, p <0.001) and increased use of dedicated non-physician staff (79.9% vs. 66.1%, p=0.02), but less use of websites for patient education (17.2% vs. 33.3%, p=0.001). Availability of linguistically appropriate education improved with increasing institution size: small (76.4), medium (82.3) and large (84.0) patient volume (p <0.011). Conclusion According to pediatric oncologists, a disparity in educational and linguistic resources for new pediatric cancer diagnosis education exists depending on institution type and size. PMID:24167088

  15. Magnetic Resonance Imaging in Pediatric Pulmonary Hypertension

    PubMed Central

    Olgunturk, Rana; Cevik, Ayhan; Terlemez, Semiha; Kacar, Emre; Oner, Yusuf Ali

    2015-01-01

    The present study aims to determine the efficacy and reliability of cardiovascular magnetic resonance imaging in establishing the diagnosis and prognosis of pulmonary hypertension in children. This is a retrospective comparison of 25 children with pulmonary hypertension and a control group comprising 19 healthy children. The diagnosis of pulmonary hypertension was made when the mean pulmonary artery pressure was ≥25 mmHg by catheter angiography. The children with pulmonary hypertension had significantly lower body mass indices than did the healthy children (P=0.048). In addition, the children with pulmonary hypertension had significantly larger main pulmonary artery diameters and ascending aortic diameters (both P=0.001) but statistically similar ratios of main pulmonary artery diameter-to-ascending aortic diameter. If the main pulmonary artery diameter was ≥25 mm, pediatric pulmonary hypertension was diagnosed with 72% sensitivity and 84% specificity. In the event that the ratio of main pulmonary artery diameter-to-ascending aorta diameter was ≥1, pediatric pulmonary hypertension was diagnosed with 60% sensitivity and 53% specificity. When compared with children who had New York Heart Association functional class II pulmonary hypertension, the children with functional class III pulmonary hypertension had significantly larger main (P=0.046), right (P=0.036), and left (P=0.003) pulmonary arteries. Cardiovascular magnetic resonance imaging is useful in the diagnosis of children with pulmonary hypertension. Pediatric pulmonary hypertension can be diagnosed with high sensitivity and specificity when the main pulmonary artery diameter measures ≥25 mm. PMID:26175631

  16. Magnetic resonance imaging in pediatric pulmonary hypertension.

    PubMed

    Pektas, Ayhan; Olgunturk, Rana; Cevik, Ayhan; Terlemez, Semiha; Kacar, Emre; Oner, Yusuf Ali

    2015-06-01

    The present study aims to determine the efficacy and reliability of cardiovascular magnetic resonance imaging in establishing the diagnosis and prognosis of pulmonary hypertension in children. This is a retrospective comparison of 25 children with pulmonary hypertension and a control group comprising 19 healthy children. The diagnosis of pulmonary hypertension was made when the mean pulmonary artery pressure was ≥25 mmHg by catheter angiography. The children with pulmonary hypertension had significantly lower body mass indices than did the healthy children (P=0.048). In addition, the children with pulmonary hypertension had significantly larger main pulmonary artery diameters and ascending aortic diameters (both P=0.001) but statistically similar ratios of main pulmonary artery diameter-to-ascending aortic diameter. If the main pulmonary artery diameter was ≥25 mm, pediatric pulmonary hypertension was diagnosed with 72% sensitivity and 84% specificity. In the event that the ratio of main pulmonary artery diameter-to-ascending aorta diameter was ≥1, pediatric pulmonary hypertension was diagnosed with 60% sensitivity and 53% specificity. When compared with children who had New York Heart Association functional class II pulmonary hypertension, the children with functional class III pulmonary hypertension had significantly larger main (P=0.046), right (P=0.036), and left (P=0.003) pulmonary arteries. Cardiovascular magnetic resonance imaging is useful in the diagnosis of children with pulmonary hypertension. Pediatric pulmonary hypertension can be diagnosed with high sensitivity and specificity when the main pulmonary artery diameter measures ≥25 mm. PMID:26175631

  17. Teaching Prevention in Pediatrics.

    ERIC Educational Resources Information Center

    Cheng, Tina L.; Greenberg, Larrie; Loeser, Helen; Keller, David

    2000-01-01

    Reviews methods of teaching preventive medicine in pediatrics and highlights innovative programs. Methods of teaching prevention in pediatrics include patient interactions, self-directed learning, case-based learning, small-group learning, standardized patients, computer-assisted instruction, the Internet, student-centered learning, and lectures.…

  18. Economics of pediatric burns.

    PubMed

    Bass, Michael J; Phillips, Linda G

    2008-07-01

    Sustaining a burn injury sets in motion a cycle of pain, disfigurement, and a search for survival. In pediatric burns, the injury extends to the parents where fear, ignorance, and helplessness forever change their lives. Pediatric burn injuries are caused by fire, hot liquids, clothing irons, hair curlers, caustic substances like drain cleaner, the grounding of an electrical source, and exposure to radiation. Efficiency in the delivery of pediatric burn care is critical. Maximizing resource utilization means continual self-evaluation and economic analysis of therapeutic modalities. Griffiths et al found that most childhood burns are due to scalds, which can be treated for $1061 per percent burn. Paddock et al reduced the cost of treating superficial pediatric burns and reduced the length of stay in hospital using silver-impregnated gauze over traditional methods. Barrett et al found improved cosmesis of skin grafts using cultured epithelial autografts but at a substantially increased cost. Corpron et al showed that pediatric burn units that treat burns >10% total body surface area and operative treatment of pediatric burns regardless of size generate positive revenue. There is a paucity of evidentiary pediatric burn economic data. More research is needed to address areas of pediatric burn care inefficiency. Improving knowledge of cost in all health care endeavors will create competition and drive down expenditures. PMID:18650705

  19. Musculoskeletal Ultrasound in Pediatrics.

    PubMed

    Harcke, H. Theodore

    1998-01-01

    Ultrasound is ideally suited to the evaluation of the pediatric musculoskeletal system because of the increased ratio of cartilage to bone in the immature skeleton. The purpose of this article is to review the current uses of musculoskeletal ultrasound in pediatric patients. Hip sonography is widely accepted; other applications are increasing in popularity. PMID:11387111

  20. Pediatric Salivary Gland Malignancies.

    PubMed

    Ord, Robert A; Carlson, Eric R

    2016-02-01

    Pediatric malignant salivary gland tumors are extremely rare. The percentage of malignant tumors is higher than that seen in adults, although the outcomes in terms of survival are better in pediatric patients. The mainstay of treatment is surgical excision with negative margins. This article reviews current concepts in demographics, etiology, management, and outcomes of malignant salivary tumors in children. PMID:26614703

  1. Pediatric Care Online: A Pediatric Point-of-Care Tool.

    PubMed

    Vardell, Emily

    2016-01-01

    Pediatric Care Online is the American Academy of Pediatrics' point-of-care tool designed for health care providers. Pediatric Care Online builds on content from Red Book Online and Pediatric Patient Education and features Quick Reference topic pages for more than 250 pediatric health care topics. The multitude of resources available within Pediatric Care Online will be reviewed in this column, and a sample search will be used to illustrate the type of information available within this point-of-care pediatric resource. PMID:27054536

  2. Training Pediatric Psychologists for Perinatal Behavioral Health Services in a Pediatric Hospital.

    PubMed

    Boyd, Rhonda C; Scharko, Alexander M; Cole, Joanna C M; Patterson, Chavis A; Benton, Tami D; Power, Thomas J

    2016-06-01

    Although pediatric hospitals specialize in providing care to children and adolescents, at The Children's Hospital of Philadelphia (CHOP), our team has been providing behavioral health services for two unique parent populations-parents with a child in the Newborn Infant Intensive Care Unit and pregnant women carrying fetuses with specific birth defects and receiving prenatal care in the Center for Fetal Diagnosis and Treatment. A new training program was developed to expand the scope of pediatric psychologists' practice to include perinatal behavioral health services, specifically for these two unique parent populations served at CHOP. The program includes direct service provision for adult mental health concerns, as well as education and support to help families cope with the existing medical conditions. This article describes the training program and its implementation as a model of training for other pediatric hospitals. The roles of psychologists embedded in these units and hospital privileges are discussed. PMID:26531132

  3. Immunopathophysiology of pediatric CNS inflammatory demyelinating diseases.

    PubMed

    Bar-Or, Amit; Hintzen, Rogier Q; Dale, Russell C; Rostasy, Kevin; Brück, Wolfgang; Chitnis, Tanuja

    2016-08-30

    Elucidating pathophysiologic mechanisms underlying the spectrum of pediatric-onset CNS demyelinating diseases, particularly those that may distinguish multiple sclerosis (MS) from other entities, promises to both improve diagnostics and guide more-informed therapeutic decisions. Observations that pediatric- and adult-onset MS share the same genetic and environmental risk factors support the view that these conditions represent essentially the same illness manifesting at different ages. Nonetheless, special consideration must be given when CNS inflammation manifests in early life, at a time when multiple organs (including immune and nervous systems) are actively maturing. CSF analysis in pediatric-onset MS points to chronic CNS inflammation, supported by observations from limited pathologic material available for study. Emerging results implicate abnormalities in both effector and regulatory T cell subsets, and potentially immune senescence, in children with MS. Although CNS-directed antibodies (including antibodies recognizing myelin antigens; Kir4.1) can be documented in pediatric-onset MS, their pathophysiologic significance (as in adults) remains unclear. This is in contrast to the presence of serum and/or CSF antibodies recognizing aquaporin-4, which, when measured using validated cell-based assays, supports the diagnosis of a neuromyelitis optica spectrum disorder, distinct from MS. Presence of anti-myelin oligodendrocyte glycoprotein antibodies documented with similar cell-based assays may also be associated with pathophysiologically distinct disease phenotypes in children. The substantial impact of pediatric-onset MS on normal brain development and function underscores the importance of elucidating both the immunobiology and neurobiology of disease. Ongoing efforts are aimed at developing and validating biological measures that define pathophysiologically distinct monophasic and chronic forms of pediatric CNS demyelination. PMID:27572856

  4. Pediatric Patients' Malnutrition and Its Relation to Hospitalization Times and Causes.

    ERIC Educational Resources Information Center

    Guimarey, Luis M.; And Others

    1984-01-01

    Relates the nutritional status of 1,378 hospitalized pediatric patients to length of hospitalization and definitive hospitalization diagnosis. Findings indicated the length of hospitalization time increased markedly with malnutrition, especially for patients with diarrhea. (BJD)

  5. [A case of narcolepsy with increased cataplectic attacks after suffering from cerebrovascular disease].

    PubMed

    Miura, H; Nakajima, S; Nakamura, H; Ichinowatari, N

    1990-06-01

    It is well known that narcoleptic patients have DR2 and DQw-1 on HLA typing. The development of narcolepsy is considered to depend on the two factors; genetic predispositions and exogenous factors such as head trauma, encephalitis, etc., mainly affecting the brainstem or diencephalon. We reported a 46-year-old man who had occasional sleep attacks after suffering from left thalamic hemorrhage and pontine vascular disorders. Rehabilitation was markedly disturbed due to frequent episodes of cataplectic attacks which was triggered by emotional lability such as laughing, anxiety, and excitement. HLA type examination showed both DR-2 and DQw-1 loci in the proband and his four other siblings. His elder brother also suffered from mild excessive daytime sleepiness during his younger age, but it subsided gradually. Analysis of overnight polysomnography in the patient revealed remarkable paradoxical alpha-blocking and frequent sleep onset REM stages as typically observed in narcoleptic patients. MRI examination showed multiple small hemorrhages and infarctions in the pontine tegmentum, in addition to the left thalamic hemorrhage and multiple subcortical ischemic lesions. Concerning the mechanism of frequent cataplexy in this patient, it is postulated that increased emotional incontinence might have stimulated the descending reticular system in the brainstem which in turn may inhibit anterior horn motor cell activities. Methylphenidate was initially given to the patient, resulting in some relief of attacks, and addition of imipramine dramatically suppressed cataplectic attacks. Imipramine is considered to inhibit the excitatory afferent pathway to the brainstem suppressing the hyperactivity of descending motor inhibitory system due to its anti-muscarinergic action. PMID:2225662

  6. Environmental factors in the etiology of type 1 diabetes, celiac disease, and narcolepsy.

    PubMed

    Lernmark, Åke

    2016-07-01

    The etiology of human leukocyte antigen (HLA)-associated organ-specific autoimmune diseases is incomplete. In type 1 diabetes and celiac disease, the strongest associations are with the HLA-DR3-DQ2 and DR4-DQ8 haplotypes, whereas the DQB1*06:02 allele has a strong negative association. In contrast, narcolepsy, especially as recently triggered by the Pandemrix(®) H1N1 vaccine (GlaxoKlineSmith (GSK), Brentford, Middlesex, UK), did not seem to develop without at least one copy of the latter allele. The overall hypothesis is that the role of these different HLA haplotypes, especially in Finland and Sweden, is related to the immune response to infectious agents that are common in these two populations. The high incidence of both type 1 diabetes and celiac disease in Scandinavia may be the result of the HLA-DR3-DQ2 and DR4-DQ8 haplotypes, and the DQB1*06:02 allele are common because they protected people from succumbing to common infections. The timing of dissecting the autoimmune response is critical to understand the possible role of environmental factors. First, an etiological trigger may be a common virus infecting beta cells or with antigens inducing beta-cell cross reactivity. Second, an autoimmune reaction may ensue, perhaps in response to beta-cell apoptosis or autophagy, resulting in autoantigen-specific T cells and autoantibodies. It is critical in at-risk children to dissect the immune response prior to the appearance of autoantibodies in order to identify cellular reactions in response to environmental factors that are able to induce an HLA-associated immune reaction. PMID:27411439

  7. Pediatric vasculitis: recognizing multisystemic manifestations at body imaging.

    PubMed

    Khanna, Geetika; Sargar, Kiran; Baszis, Kevin W

    2015-01-01

    Pediatric vasculitides are multisystem diseases that can be diagnostic challenges because of variable clinical manifestations. The clinical manifestation is determined by the size of the affected vessels, organs involved, extent of vascular injury, and underlying pathologic characteristics. Henoch-Schönlein purpura and Kawasaki disease are the two most common subtypes of pediatric vasculitis. Diagnosis of pediatric vasculitis can be difficult, and the outcome can be serious or fatal in the absence of timely intervention. Imaging plays a central role in establishing the diagnosis of vasculitis involving large- and medium-sized vessels, visualizing its vascular and extravascular manifestations, and monitoring the disease course and response to treatment. Although imaging cannot depict the vessel changes of small-vessel vasculitis directly, it can be used to detect tissue damage resulting from vessel inflammation. This article discusses the classification and clinical features of the major pediatric vasculitides. The imaging approach to and nonneurologic findings of major pediatric vasculitis subtypes are reviewed for the pediatric body imager. PMID:25969938

  8. Obesity in Pediatric ALL Survivors: A Meta-Analysis

    PubMed Central

    Kelly, Michael J.; Saltzman, Edward; Must, Aviva; Roberts, Susan B.; Parsons, Susan K.

    2014-01-01

    BACKGROUND AND OBJECTIVE: Previous studies of survivors of pediatric acute lymphoblastic leukemia (ALL) have drawn heterogeneous conclusions regarding the prevalence of obesity and risk factors for developing obesity in pediatric ALL survivors. We sought to determine the prevalence of obesity in pediatric ALL survivors and examine risk factors for obesity through a systematic review and meta-analysis. METHODS: A MEDLINE search was performed from its inception through 2013. Studies met the inclusion criteria if they (1) included at least 10 survivors of pediatric ALL; (2) assessed the prevalence or indicators of obesity; and (3) compared obesity among ALL survivors to a reference population or external control group. Extracted data included patient and treatment characteristics, study design, population used for comparison, and prevalence of obesity. RESULTS: Forty-seven studies met the inclusion criteria. Despite significant heterogeneity among the studies (I2 = 96%), the mean BMI z score in 1742 pediatric ALL survivors was 0.83 (95% confidence interval: 0.60–1.06), which corresponds to the 80th BMI percentile, indicating a significantly higher BMI in pediatric ALL survivors than the reference population. Subgroup analyses found a high prevalence of obesity in ALL survivors regardless of survivors’ receipt of cranial irradiation, gender, or age at diagnosis. CONCLUSIONS: Obesity is prevalent in pediatric ALL survivors and is independent of patient- and treatment-related characteristics. Clinicians need to screen for obesity and its associated health conditions early in survivorship. PMID:24534408

  9. Physical activity and pediatric multiple sclerosis: Developing a research agenda.

    PubMed

    Yeh, E Ann; Kinnett-Hopkins, Dominique; Grover, Stephanie A; Motl, Robert W

    2015-11-01

    Three-quarters of children with multiple sclerosis (MS) experience fatigue or depression, and progressive neurocognitive decline may be seen as early as two years after MS diagnosis. Furthermore, a higher magnetic resonance imaging disease burden is seen in pediatric-onset MS compared with adult-onset MS. To date, limited knowledge exists regarding behavioral methods for managing symptoms and disease progression in pediatric MS. To that end, this paper builds an evidence-based argument for the possible symptomatic and disease-modifying effects of exercise and physical activity in pediatric MS. This will be accomplished through: (a) a review of pediatric MS and its consequences; (b) a brief overview of physical activity and its consequences in children and adults with MS; and (c) a selective review of research on the neurological benefits of physical activity in pediatric populations. This topical review concludes with a list of 10 questions to guide future research on physical activity and pediatric MS. The objective of this paper is the provision of a research interest, focus and agenda involving pediatric MS and its lifelong management though exercise and physical activity behavior. Such an agenda is critical as the effects and maintenance of physical activity and exercise track across the lifespan, particularly when developed in the early stages of life. PMID:26447061

  10. Pediatric ventricular assist devices.

    PubMed

    Adachi, Iki; Burki, Sarah; Zafar, Farhan; Morales, David Luis Simon

    2015-12-01

    The domain of pediatric ventricular assist device (VAD) has recently gained considerable attention. Despite the fact that, historically, the practice of pediatric mechanical circulatory support (MCS) has lagged behind that of adult patients, this gap between the two groups is narrowing. Currently, the Berlin EXCOR VAD is the only pediatric-specific durable VAD approved by the U.S Food and Drug Administration (FDA). The prospective Berlin Heart trial demonstrated a successful outcome, either bridge to transplantation (BTT), or in rare instances, bridge to recovery, in approximately 90% of children. Also noted during the trial was, however, a high incidence of adverse events such as embolic stroke, bleeding and infection. This has incentivized some pediatric centers to utilize adult implantable continuous-flow devices, for instance the HeartMate II and HeartWare HVAD, in children. As a result of this paradigm shift, the outlook of pediatric VAD support has dramatically changed: Treatment options previously unavailable to children, including outpatient management and even destination therapy, have now been becoming a reality. The sustained demand for continued device miniaturization and technological refinements is anticipated to extend the range of options available to children-HeartMate 3 and HeartWare MVAD are two examples of next generation VADs with potential pediatric application, both of which are presently undergoing clinical trials. A pediatric-specific continuous-flow device is also on the horizon: the redesigned Infant Jarvik VAD (Jarvik 2015) is undergoing pre-clinical testing, with a randomized clinical trial anticipated to follow thereafter. The era of pediatric VADs has begun. In this article, we discuss several important aspects of contemporary VAD therapy, with a particular focus on challenges unique to the pediatric population. PMID:26793341

  11. Pediatric ventricular assist devices

    PubMed Central

    Burki, Sarah; Zafar, Farhan; Morales, David Luis Simon

    2015-01-01

    The domain of pediatric ventricular assist device (VAD) has recently gained considerable attention. Despite the fact that, historically, the practice of pediatric mechanical circulatory support (MCS) has lagged behind that of adult patients, this gap between the two groups is narrowing. Currently, the Berlin EXCOR VAD is the only pediatric-specific durable VAD approved by the U.S Food and Drug Administration (FDA). The prospective Berlin Heart trial demonstrated a successful outcome, either bridge to transplantation (BTT), or in rare instances, bridge to recovery, in approximately 90% of children. Also noted during the trial was, however, a high incidence of adverse events such as embolic stroke, bleeding and infection. This has incentivized some pediatric centers to utilize adult implantable continuous-flow devices, for instance the HeartMate II and HeartWare HVAD, in children. As a result of this paradigm shift, the outlook of pediatric VAD support has dramatically changed: Treatment options previously unavailable to children, including outpatient management and even destination therapy, have now been becoming a reality. The sustained demand for continued device miniaturization and technological refinements is anticipated to extend the range of options available to children—HeartMate 3 and HeartWare MVAD are two examples of next generation VADs with potential pediatric application, both of which are presently undergoing clinical trials. A pediatric-specific continuous-flow device is also on the horizon: the redesigned Infant Jarvik VAD (Jarvik 2015) is undergoing pre-clinical testing, with a randomized clinical trial anticipated to follow thereafter. The era of pediatric VADs has begun. In this article, we discuss several important aspects of contemporary VAD therapy, with a particular focus on challenges unique to the pediatric population. PMID:26793341

  12. Imaging of pediatric pituitary endocrinopathies

    PubMed Central

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

    Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty, diabetes insipidus, syndrome of inappropriate antidiuretic hormone (SIADH) secretion, and hyperpituitarism. Magnetic resonance imaging (MRI) is the modality of choice to visualize hypothalamic-pituitary axis and associated endocrinopathies. Neuroimaging can be normal or disclose abnormalities related to pituitary-hypothalamic axis like (i) congenital and developmental malformations; (ii) tumors; (iii) cystic lesions; and (iv) infectious and inflammatory conditions. Classical midline anomalies like septo-optic dysplasias or corpus callosum agenesis are commonly associated with pituitary endocrinopathies and also need careful evaluation. In this radiological review, we will discuss neuroendocrine disorders related to hypothalamic pituitary-axis. PMID:23087850

  13. Pediatric Body Magnetic Resonance Imaging.

    PubMed

    Kandasamy, Devasenathipathy; Goyal, Ankur; Sharma, Raju; Gupta, Arun Kumar

    2016-09-01

    Magnetic resonance imaging (MRI) is a radiation-free imaging modality with excellent contrast resolution and multiplanar capabilities. Since ionizing radiation is an important concern in the pediatric population, MRI serves as a useful alternative to computed tomography (CT) and also provides additional clues to diagnosis, not discernible on other investigations. Magnetic resonance cholangiopancreatography (MRCP), urography, angiography, enterography, dynamic multiphasic imaging and diffusion-weighted imaging provide wealth of information. The main limitations include, long scan time, need for sedation/anesthesia, cost and lack of widespread availability. With the emergence of newer sequences and variety of contrast agents, MRI has become a robust modality and may serve as a one-stop shop for both anatomical and functional information. PMID:26916887

  14. Pediatric DXA: technique and interpretation

    PubMed Central

    Henwood, Maria J.

    2006-01-01

    This article reviews dual X-ray absorptiometry (DXA) technique and interpretation with emphasis on the considerations unique to pediatrics. Specifically, the use of DXA in children requires the radiologist to be a “clinical pathologist” monitoring the technical aspects of the DXA acquisition, a “statistician” knowledgeable in the concepts of Z-scores and least significant changes, and a “bone specialist” providing the referring clinician a meaningful context for the numeric result generated by DXA. The patient factors that most significantly influence bone mineral density are discussed and are reviewed with respect to available normative databases. The effects the growing skeleton has on the DXA result are also presented. Most important, the need for the radiologist to be actively involved in the technical and interpretive aspects of DXA is stressed. Finally, the diagnosis of osteoporosis should not be made on DXA results alone but should take into account other patient factors. PMID:16715219

  15. Pediatric autonomic disorders.

    PubMed

    Axelrod, Felicia B; Chelimsky, Gisela G; Weese-Mayer, Debra E

    2006-07-01

    The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as its intimate relationship with sensory function. To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood. PMID:16818580

  16. Strategic Plan for Pediatric Respiratory Diseases Research

    PubMed Central

    Castro, Mario; Ramirez, Maria I.; Gern, James E.; Cutting, Garry; Redding, Greg; Hagood, James S.; Whitsett, Jeffrey; Abman, Steve; Raj, J. Usha; Barst, Robyn; Kato, Gregory J.; Gozal, David; Haddad, Gabriel G.; Prabhakar, Nanduri R.; Gauda, Estelle; Martinez, Fernando D.; Tepper, Robert; Wood, Robert E.; Accurso, Frank; Teague, W. Gerald; Venegas, Jose; Cole, F. Sessions; Wright, Rosalind J.

    2009-01-01

    Summary The Division of Lung Diseases of the National Heart, Lung and Blood Institute (NHLBI) recently held a workshop to identify gaps in our understanding and treatment of childhood lung diseases and to define strategies to enhance translational research in this field. Leading experts with diverse experience in both laboratory and patient-oriented research reviewed selected areas of pediatric lung diseases, including perinatal programming and epigenetic influences;mechanisms of lung injury, repair, and regeneration; pulmonary vascular disease (PVD); sleep and control of breathing; and the application of novel translational methods to enhance personalized medicine. This report summarizes the proceedings of this workshop and provides recommendations for emphasis on targeted areas for future investigation. The priority areas identified for research in pediatric pulmonary diseases included: (1) epigenetic and environmental influences on lung development that program pediatric lung diseases, (2) injury, regeneration, and repair in the developing lung, (3) PVD in children, (4) development and adaptation of ventilatory responses to postnatal life, (5) nonatopic wheezing: aberrant large airway development or injury? (6) strategies to improve assessment, diagnosis, and treatment of pediatric respiratory diseases, and (7) predictive and personalizedmedicine for children. PMID:19086051

  17. Biomarkers in Pediatric ARDS: Future Directions

    PubMed Central

    Orwoll, Benjamin E.; Sapru, Anil

    2016-01-01

    Acute respiratory distress syndrome (ARDS) is common among mechanically ventilated children and accompanies up to 30% of all pediatric intensive care unit deaths. Though ARDS diagnosis is based on clinical criteria, biological markers of acute lung damage have been extensively studied in adults and children. Biomarkers of inflammation, alveolar epithelial and capillary endothelial disruption, disordered coagulation, and associated derangements measured in the circulation and other body fluids, such as bronchoalveolar lavage, have improved our understanding of pathobiology of ARDS. The biochemical signature of ARDS has been increasingly well described in adult populations, and this has led to the identification of molecular phenotypes to augment clinical classifications. However, there is a paucity of data from pediatric ARDS (pARDS) patients. Biomarkers and molecular phenotypes have the potential to identify patients at high risk of poor outcomes, and perhaps inform the development of targeted therapies for specific groups of patients. Additionally, because of the lower incidence of and mortality from ARDS in pediatric patients relative to adults and lack of robust clinical predictors of outcome, there is an ongoing interest in biological markers as surrogate outcome measures. The recent definition of pARDS provides additional impetus for the measurement of established and novel biomarkers in future pediatric studies in order to further characterize this disease process. This chapter will review the currently available literature and discuss potential future directions for investigation into biomarkers in ARDS among children. PMID:27313995

  18. H1N1 influenza virus induces narcolepsy-like sleep disruption and targets sleep-wake regulatory neurons in mice.

    PubMed

    Tesoriero, Chiara; Codita, Alina; Zhang, Ming-Dong; Cherninsky, Andrij; Karlsson, Håkan; Grassi-Zucconi, Gigliola; Bertini, Giuseppe; Harkany, Tibor; Ljungberg, Karl; Liljeström, Peter; Hökfelt, Tomas G M; Bentivoglio, Marina; Kristensson, Krister

    2016-01-19

    An increased incidence in the sleep-disorder narcolepsy has been associated with the 2009-2010 pandemic of H1N1 influenza virus in China and with mass vaccination campaigns against influenza during the pandemic in Finland and Sweden. Pathogenetic mechanisms of narcolepsy have so far mainly focused on autoimmunity. We here tested an alternative working hypothesis involving a direct role of influenza virus infection in the pathogenesis of narcolepsy in susceptible subjects. We show that infection with H1N1 influenza virus in mice that lack B and T cells (Recombinant activating gene 1-deficient mice) can lead to narcoleptic-like sleep-wake fragmentation and sleep structure alterations. Interestingly, the infection targeted brainstem and hypothalamic neurons, including orexin/hypocretin-producing neurons that regulate sleep-wake stability and are affected in narcolepsy. Because changes occurred in the absence of adaptive autoimmune responses, the findings show that brain infections with H1N1 virus have the potential to cause per se narcoleptic-like sleep disruption. PMID:26668381

  19. H1N1 influenza virus induces narcolepsy-like sleep disruption and targets sleep–wake regulatory neurons in mice

    PubMed Central

    Tesoriero, Chiara; Codita, Alina; Zhang, Ming-Dong; Cherninsky, Andrij; Karlsson, Håkan; Grassi-Zucconi, Gigliola; Bertini, Giuseppe; Harkany, Tibor; Ljungberg, Karl; Liljeström, Peter; Hökfelt, Tomas G. M.; Bentivoglio, Marina; Kristensson, Krister

    2016-01-01

    An increased incidence in the sleep-disorder narcolepsy has been associated with the 2009–2010 pandemic of H1N1 influenza virus in China and with mass vaccination campaigns against influenza during the pandemic in Finland and Sweden. Pathogenetic mechanisms of narcolepsy have so far mainly focused on autoimmunity. We here tested an alternative working hypothesis involving a direct role of influenza virus infection in the pathogenesis of narcolepsy in susceptible subjects. We show that infection with H1N1 influenza virus in mice that lack B and T cells (Recombinant activating gene 1-deficient mice) can lead to narcoleptic-like sleep–wake fragmentation and sleep structure alterations. Interestingly, the infection targeted brainstem and hypothalamic neurons, including orexin/hypocretin-producing neurons that regulate sleep–wake stability and are affected in narcolepsy. Because changes occurred in the absence of adaptive autoimmune responses, the findings show that brain infections with H1N1 virus have the potential to cause per se narcoleptic-like sleep disruption. PMID:26668381

  20. Pediatric heart surgery - discharge

    MedlinePlus

    ... reduced appetite Alternate Names Congenital heart surgery - discharge; Patent ductus arteriosus ligation - discharge; Hypoplastic left heart repair - ... of the aorta Congenital heart defect - corrective surgery Patent ductus arteriosus Pediatric heart surgery Tetralogy of Fallot ...

  1. American Academy of Pediatrics

    MedlinePlus

    ... Bright Futures Medical Home Clinical Support Pediatric Care Online Patient Education Online Bright Futures Medical Home Connected Kids Red Book ... Finding a Job Career Support Professional Education PediaLink/Online Education Maintenance of Certification Professional Education Publications MOC | ...

  2. Pediatric oncology in Pakistan.

    PubMed

    Ashraf, Muhammad Shamvil

    2012-03-01

    Pediatric oncology in Pakistan has developed over last decade with substantial increase in the facility for treatment and number of expertise. Though large numbers of children still do not reach treatment center more children have now access to quality cancer treatment. There has been gradual improvement in Pediatric oncology nursing and allied services. Pediatric Palliative care in Pakistan is in initial phase of development. Pediatric Oncology services are largely supported by philanthropists. Children Cancer Hospital a project of Children Cancer Foundation Pakistan Trust is not only providing quality treatment to every child regardless of paying ability but also playing a pivotal role in capacity building and creating awareness about childhood cancer in Pakistan. PMID:22357147

  3. Pediatric Brain Tumor Foundation

    MedlinePlus

    ... you insights into your child's treatment. LEARN MORE Brain tumors and their treatment can be deadly so ... to make progress in “immunogenomics” Read more >> Pediatric Brain Tumor Foundation 302 Ridgefield Court, Asheville, NC 28806 ...

  4. Pediatric liver transplantation

    PubMed Central

    Spada, Marco; Riva, Silvia; Maggiore, Giuseppe; Cintorino, Davide; Gridelli, Bruno

    2009-01-01

    In previous decades, pediatric liver transplantation has become a state-of-the-art operation with excellent success and limited mortality. Graft and patient survival have continued to improve as a result of improvements in medical, surgical and anesthetic management, organ availability, immunosuppression, and identification and treatment of postoperative complications. The utilization of split-liver grafts and living-related donors has provided more organs for pediatric patients. Newer immunosuppression regimens, including induction therapy, have had a significant impact on graft and patient survival. Future developments of pediatric liver transplantation will deal with long-term follow-up, with prevention of immunosuppression-related complications and promotion of as normal growth as possible. This review describes the state-of-the-art in pediatric liver transplantation. PMID:19222089

  5. Pediatric Celiac Disease

    MedlinePlus

    ... Sprue Association/USA Gluten Intoloerance Group of North America NASPGHAN Foundation Supporters Educational support for the NASPGHAN ... NASPGHAN) Celiac Disease Eosinophilic Esophagitis Pediatric IBD Nutrition & Obesity Reflux & GERD Research & Grants Our Supporters Site Map © ...

  6. Pediatric heart surgery

    MedlinePlus

    Heart surgery - pediatric; Heart surgery for children; Acquired heart disease; Heart valve surgery - children ... after the baby is born. For others, your child may be able to safely wait for months ...

  7. NIH Pediatric Rheumatology Clinic

    MedlinePlus

    ... patients without discrimination on the basis of race, religion, ethnic group, citizenship, or residence. We can provide ... studies to help understand pediatric rheumatic diseases. Natural history studies, for example, are designed to study how ...

  8. Electrographic seizures in pediatric ICU patients

    PubMed Central

    Arndt, Daniel H.; Carpenter, Jessica L.; Chapman, Kevin E.; Cornett, Karen M.; Gallentine, William B.; Giza, Christopher C.; Goldstein, Joshua L.; Hahn, Cecil D.; Lerner, Jason T.; Loddenkemper, Tobias; Matsumoto, Joyce H.; McBain, Kristin; Nash, Kendall B.; Payne, Eric; Sánchez, Sarah M.; Fernández, Iván Sánchez; Shults, Justine; Williams, Korwyn; Yang, Amy; Dlugos, Dennis J.

    2013-01-01

    Objectives: We aimed to determine the incidence of electrographic seizures in children in the pediatric intensive care unit who underwent EEG monitoring, risk factors for electrographic seizures, and whether electrographic seizures were associated with increased odds of mortality. Methods: Eleven sites in North America retrospectively reviewed a total of 550 consecutive children in pediatric intensive care units who underwent EEG monitoring. We collected data on demographics, diagnoses, clinical seizures, mental status at EEG onset, EEG background, interictal epileptiform discharges, electrographic seizures, intensive care unit length of stay, and in-hospital mortality. Results: Electrographic seizures occurred in 162 of 550 subjects (30%), of which 61 subjects (38%) had electrographic status epilepticus. Electrographic seizures were exclusively subclinical in 59 of 162 subjects (36%). A multivariable logistic regression model showed that independent risk factors for electrographic seizures included younger age, clinical seizures prior to EEG monitoring, an abnormal initial EEG background, interictal epileptiform discharges, and a diagnosis of epilepsy. Subjects with electrographic status epilepticus had greater odds of in-hospital death, even after adjusting for EEG background and neurologic diagnosis category. Conclusions: Electrographic seizures are common among children in the pediatric intensive care unit, particularly those with specific risk factors. Electrographic status epilepticus occurs in more than one-third of children with electrographic seizures and is associated with higher in-hospital mortality. PMID:23794680

  9. Integrative Nutrition for Pediatrics.

    PubMed

    Erlichman, Jessi; Hall, Amanda; Dean, Amy; Godwin, Bridget; Mascarenhas, Maria

    2016-06-01

    Food is essential for life. Yet, poor food choices may cause poor health. Dietary manipulation is frequently integrated into the management of common chronic pediatric conditions. Parents seek dietary information to have more control over child's condition and to avoid side effects of medicine. This article reviews selected diets for a few common pediatric disorders including eczema, attention deficit hyperactivity disorder, headache and migraine, non-celiac gluten sensitivity, and irritable bowel syndrome. PMID:26832886

  10. Pediatric nuclear medicine

    SciTech Connect

    Treves, S.T.

    1985-01-01

    This book discusses the diagnostic techniques of nuclear medicine as applied in pediatric patients. Particular emphasis is placed on the subject of scintigraphy of organ systems for diagnostic purposes. The topics covered are: scintigraphy of skeleton, bone marrow spleen, liver, thyroid, lungs, urinary tract, brain, heart and cerebrospinal fluid. The pathology and scintigraphy of lacrimal glands is also covered. Other diagnostic techniques of radiology in pediatrics are also briefly discussed for comparative evaluation.

  11. Correlative pediatric imaging

    SciTech Connect

    Garty, I.; Delbeke, D.; Sandler, M.P.

    1989-01-01

    Nuclear medicine, ultrasound, and magnetic resonance imaging (MRI) are considered ideal imaging modalities for pediatric patients. The future is even more promising for pediatric imaging with the development of newer and improved radiopharmaceuticals, instrumentation and diagnostic modalities such as positron emission tomography, labeled monoclonal antibodies, and faster dynamic and contrast enhanced MRI methods. However, correlation of more conventional imaging modalities with nuclear medicine, ultrasound and MRI remain essential for optimal patient care. 43 references.

  12. Pediatric Open Fractures.

    PubMed

    Trionfo, Arianna; Cavanaugh, Priscilla K; Herman, Martin J

    2016-07-01

    Open fractures in children are rare and are typically associated with better prognoses compared with their adult equivalents. Regardless, open fractures pose a challenge because of the risk of healing complications and infection, leading to significant morbidity even in the pediatric population. Therefore, the management of pediatric open fractures requires special consideration. This article comprehensively reviews the initial evaluation, classification, treatment, outcomes, and controversies of open fractures in children. PMID:27241379

  13. Pediatric upper gastrointestinal studies.

    PubMed

    Odgren, Mike

    2014-01-01

    Upper gastrointestinal examinations are common procedures in many radiology departments. Performing this examination on pediatric patients requires understanding the formation of the gastrointestinal tract and the various disease processes and anatomical variances that can occur. The examination also requires a thorough patient history. This article discusses embryologic development and anatomy of the small bowel and colon, disease processes and conditions of the upper gastrointestinal tract, and fluoroscopic upper gastrointestinal tract examinations performed on the pediatric and neonatal patient. PMID:24806054

  14. A coordinated cross-disciplinary research initiative to address an increased incidence of narcolepsy following the 2009-2010 Pandemrix vaccination programme in Sweden.

    PubMed

    Feltelius, N; Persson, I; Ahlqvist-Rastad, J; Andersson, M; Arnheim-Dahlström, L; Bergman, P; Granath, F; Adori, C; Hökfelt, T; Kühlmann-Berenzon, S; Liljeström, P; Maeurer, M; Olsson, T; Örtqvist, Å; Partinen, M; Salmonson, T; Zethelius, B

    2015-10-01

    In response to the 2009-2010 influenza A(H1N1)pdm09 pandemic, a mass vaccination programme with the AS03-adjuvanted influenza A(H1N1) vaccine Pandemrix was initiated in Sweden. Unexpectedly, there were a number of narcolepsy cases amongst vaccinated children and adolescents reported. In this review, we summarize the results of a joint cross-disciplinary national research effort to investigate the adverse reaction signal from the spontaneous reporting system and to better understand possible causative mechanisms. A three- to fourfold increased risk of narcolepsy in vaccinated children and adolescents was verified by epidemiological studies. Of importance, no risk increase was observed for the other neurological and autoimmune diseases studied. Genetic studies confirmed the association with the allele HLA-DQB1*06:02, which is known to be related to sporadic narcolepsy. Furthermore, a number of studies using cellular and molecular experimental models investigated possible links between influenza vaccination and narcolepsy. Serum analysis, using a peptide microarray platform, showed that individuals who received Pandemrix exhibited a different epitope reactivity pattern to neuraminidase and haemagglutinin, as compared to individuals who were infected with H1N1. Patients with narcolepsy were also found to have increased levels of interferon-gamma production in response to streptococcus-associated antigens. The chain of patient-related events and the study results emerging over time were subjected to intense nationwide media attention. The importance of transparent communication and collaboration with patient representatives to maintain public trust in vaccination programmes is also discussed in the review. Organizational challenges due to this unexpected event delayed the initiation of some of the research projects, still the main objectives of this joint, cross-disciplinary research effort were reached, and important insights were acquired for future, similar

  15. The Changing Role of Pediatric Well-Child Care

    ERIC Educational Resources Information Center

    Kuo, Alice A.; Inkelas, Moira

    2007-01-01

    Identifying potential developmental and behavioral problems during the first 3 years of life is an important factor in promoting a child's healthy development. The early identification of a potential developmental or behavioral problem leads to further evaluation and possible diagnosis or treatment if needed. Pediatric health care professionals…

  16. Semantic priming effect during REM-sleep inertia in patients with narcolepsy.

    PubMed

    Mazzetti, Michela; Campi, Claudio; Mattarozzi, Katia; Plazzi, Giuseppe; Tuozzi, Giovanni; Vandi, Stefano; Vignatelli, Luca; Cipolli, Carlo

    2006-12-11

    Patients with narcolepsy-cataplexy (NC) present excessive daytime sleepiness (EDS), cataplexy and an altered architecture of nocturnal sleep, with frequent episodes of REM-sleep at sleep onset (SOREM-sleep). This altered organization of nocturnal sleep may be accompanied by some differences in the functioning of the cognitive processes involved in the access, organization and consolidation of information during sleep. This study attempts to ascertain whether the activation of semantic memory during REM-sleep, as measured using a technique of semantic priming (namely, the facilitation of the activation of strongly-related rather than weakly-related and, overall, unrelated pairs of prime-target words) is different in NC patients compared to normal subjects. A lexical decision task (LDT) was carried out twice in wakefulness (at 10a.m. and after a 24h interval) and twice in the period of sleep inertia following awakening from SOREM and 4th-cycle REM-sleep on 12 NC patients and from 1st- and 4th-cycle REM-sleep on 12 matched controls. Reaction time (RT) to target words, taken as a measure of the semantic priming effect, proved to be longer (a) in NC patients than in control subjects; (b) in the period of REM-sleep inertia than in wakefulness; (c) in the first rather than the second session; and (d) for unrelated compared to weakly-related and, overall, strongly-related prime-target pairs. RT in post-REM-sleep sessions was less impaired, compared to waking sessions, and less dependent on the associative strength of prime-target pairs in NC patients than in normal subjects. Finally, RT of NC patients, although longer than that of normal subjects in waking sessions, significantly improved in the second session, as a consequence of either the amount of exercise or the consolidation advantage provided by REM-sleep for the procedural components of the task. The whole picture suggests a greater effectiveness of the activation of semantic memory during (SO)REM-sleep in NC

  17. Pediatric Exercise Science: A Brief Overview.

    PubMed

    Rowland, Thomas

    2016-05-01

    Interest in the physiological responses to exercise unique to the pediatric age group has grown exponentially over the past 50 years. A number of issues surrounding children's exercise have been particularly responsible for this trend, particularly a) recognition of the health benefits of exercise in youth, b) the growing involvement of young persons in highly intense levels of sports play, and c) the role that exercise may play in the diagnosis and management of children with chronic disease. As a consequence, current research to date has provided a comprehensive picture of the features specific to children's response to exercise. Future challenges facing the field of pediatric exercise science involve translating this information into practical guidelines which can be applied to the realms of clinical medical practice, preventive health initiatives, and athletic training regimens which are appropriate for this age group. PMID:27137164

  18. [Pediatric neurological disorders and genetic counseling].

    PubMed

    Fukushima, Yoshimitsu

    2003-07-01

    Genetic counseling provides medical and genetic information of the disease including its natural history, recurrence risk, availability and usefulness of genetic testing, as well as psycho-social support. In the field of pediatric neurology, the majority of genetic counseling seems to be a simple risk estimation of the next child and unrelated to ethical issues. However, in some cases requiring prenatal diagnosis or presymptomatic testing, we have to address serious ethical issues. Genetic counseling should be provided by an educated medical doctor at a suitable genetics clinic. In Japan, we have "Japanese Board of Medical Genetics, Clinical Geneticist" as an education system of clinical genetics for medical doctors. Pediatric neurologists should know the special issues of genetic information and contact with clinical geneticists in selected cases. PMID:12875203

  19. Gray zone lymphomas in pediatric patients.

    PubMed

    Liang, Xiayuan; Greffe, Brian; Cook, Bruce; Giller, Roger; Graham, Douglas K; McGranahan, Amy N; Wang, Michael

    2011-01-01

    Gray zone lymphomas are defined as lymphoid malignancies that cannot be reliably classified into a single distinct disease entity after all available morphologic, immunophenotypic, and molecular investigations have been performed. The 2008 World Health Organization Classification proposed 2 gray zone lesions: (1) B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma and (2) B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma. These gray zone lesions are rare, especially in pediatric patients, and create a great challenge to both pathologists and oncologists because this differential diagnosis has direct implications for management strategies. In this manuscript, we report 2 cases of pediatric patients with gray zone lymphoma and review clinicopathologic features, treatment options, and outcomes of this uncommon tumor. PMID:20331368

  20. Designing a Pediatric Severe Sepsis Screening Tool

    PubMed Central

    Sepanski, Robert J.; Godambe, Sandip A.; Mangum, Christopher D.; Bovat, Christine S.; Zaritsky, Arno L.; Shah, Samir H.

    2014-01-01

    We sought to create a screening tool with improved predictive value for pediatric severe sepsis (SS) and septic shock that can be incorporated into the electronic medical record and actively screen all patients arriving at a pediatric emergency department (ED). “Gold standard” SS cases were identified using a combination of coded discharge diagnosis and physician chart review from 7,402 children who visited a pediatric ED over 2 months. The tool’s identification of SS was initially based on International Consensus Conference on Pediatric Sepsis (ICCPS) parameters that were refined by an iterative, virtual process that allowed us to propose successive changes in sepsis detection parameters in order to optimize the tool’s predictive value based on receiver operating characteristics (ROC). Age-specific normal and abnormal values for heart rate (HR) and respiratory rate (RR) were empirically derived from 143,603 children seen in a second pediatric ED over 3 years. Univariate analyses were performed for each measure in the tool to assess its association with SS and to characterize it as an “early” or “late” indicator of SS. A split-sample was used to validate the final, optimized tool. The final tool incorporated age-specific thresholds for abnormal HR and RR and employed a linear temperature correction for each category. The final tool’s positive predictive value was 48.7%, a significant, nearly threefold improvement over the original ICCPS tool. False positive systemic inflammatory response syndrome identifications were nearly sixfold lower. PMID:24982852

  1. Pediatric integrative medicine: pediatrics' newest subspecialty?

    PubMed Central

    2012-01-01

    Background Integrative medicine is defined as relationship-centered care that focuses on the whole person, is informed by evidence, and makes use of all appropriate therapeutic approaches, healthcare professionals and disciplines to achieve optimal health and healing, including evidence-based complementary and alternative medicine. Pediatric integrative medicine (PIM) develops and promotes this approach within the field of pediatrics. We conducted a survey to identify and describe PIM programs within academic children’s hospitals across North America. Key barriers and opportunities were identified for the growth and development of academic PIM initiatives in the US and Canada. Methods Academic PIM programs were identified by email and eligible for inclusion if they had each of educational, clinical, and research activities. Program directors were interviewed by telephone regarding their clinical, research, educational, and operational aspects. Results Sixteen programs were included. Most (75%) programs provided both inpatient and outpatient services. Seven programs operated with less than 1 FTE clinical personnel. Credentialing of complementary and alternative medicine (CAM) providers varied substantially across the programs and between inpatient and outpatient services. Almost all (94%) programs offered educational opportunities for residents in pediatrics and/or family medicine. One fifth (20%) of the educational programs were mandatory for medical students. Research was conducted in a range of topics, but half of the programs reported lack of research funding and/or time. Thirty-one percent of the programs relied on fee-for-service income. Conclusions Pediatric integrative medicine is emerging as a new subspecialty to better help address 21st century patient concerns. PMID:22894682

  2. Confronting pediatric brain tumors: parent stories.

    PubMed

    McMillan, Gigi

    2014-01-01

    This narrative symposium brings to light the extreme difficulties faced by parents of children diagnosed with brain tumors. NIB editorial staff and narrative symposium editors, Gigi McMillan and Christy A. Rentmeester, developed a call for stories that was distributed on several list serves and posted on Narrative Inquiry in Bioethics' website. The call asks parents to share their personal experience of diagnosis, treatment, long-term effects of treatment, social issues and the doctor-patient-parent dynamic that develops during this process. Thirteen stories are found in the print version of the journal and an additional six supplemental stories are published online only through Project MUSE. One change readers may notice is that the story authors are not listed in alphabetical order. The symposium editors had a vision for this issue that included leading readers through the timeline of this topic: diagnosis-treatment-acute recovery-recurrence-treatment (again)-acute recovery (again)-long-term quality of life-(possibly) end of life. Stories are arranged to help lead the reader through this timeline.Gigi McMillan is a patient and research subject advocate, co-founder of We Can, Pediatric Brain Tumor Network, as well as, the mother of a child who suffered from a pediatric brain tumor. She also authored the introduction for this symposium. Christy Rentmeester is an Associate Professor of Health Policy and Ethics in the Creighton University School of Medicine. She served as a commentator for this issue. Other commentators for this issue are Michael Barraza, a clinical psychologist and board member of We Can, Pediatric Brain Tumor Network; Lisa Stern, a pediatrician who has diagnosed six children with brain tumors in her 20 years of practice; and Katie Rose, a pediatric brain tumor patient who shares her special insights about this world. PMID:24748242

  3. Pediatric Malignancies, Treatment Outcomes and Abandonment of Pediatric Cancer Treatment in Zambia

    PubMed Central

    Slone, Jeremy S.; Chunda-Liyoka, Catherine; Perez, Marta; Mutalima, Nora; Newton, Robert; Chintu, Chifumbe; Kankasa, Chipepo; Chipeta, James; Heimburger, Douglas C.; Vermund, Sten H.; Friedman, Debra L.

    2014-01-01

    Background There exist significant challenges to the receipt of comprehensive oncologic treatment for children diagnosed with cancer in sub-Saharan Africa. To better define those challenges, we investigated treatment outcomes and risk factors for treatment abandonment in a cohort of children diagnosed with cancer at the University Teaching Hospital (UTH), the site of the only pediatric oncology ward in Zambia. Methods Using an established database, a retrospective cohort study was conducted of children aged 0–15 years admitted to the pediatric oncology ward between July 2008 and June 2010 with suspected cancer. Diagnosis, mode of diagnosis, treatment outcome, and risk factors for abandonment of treatment were abstracted from this database and clinical medical records. Results Among 162 children treated at the UTH during the study time period that met inclusion criteria, only 8.0% completed a treatment regimen with most of the patients dying during treatment or abandoning care. In multivariable analysis, shorter distance from home to the UTH was associated with a lower risk of treatment abandonment (Adjusted Odds Ratio [aOR] = 0.48 (95% confidence interval [CI] 0.23–0.97). Conversely maternal education less than secondary school was associated with increased risk for abandonment (aOR = 1.65; 95% CI 1.05–2.58). Conclusions Despite availability of dedicated pediatric oncology treatment, treatment completion rates are poor, due in part to the logistical challenges faced by families, low educational status, and significant distance from the hospital. Alternative treatment delivery strategies are required to bring effective pediatric oncology care to the patients in need, as their ability to come to and remain at a central tertiary care facility for treatment is limited. We suggest that the extensive system now in place in most of sub-Saharan Africa that sustains life-long antiretroviral therapy for children with human immunodeficiency virus (HIV) infection

  4. Pediatric Electrocardiographic Imaging (ECGI) Applications

    PubMed Central

    Silva, Jennifer N. A.

    2014-01-01

    Summary Noninvasive electrocardiographic imaging (ECGI) has been used in pediatric and congenital heart patients to better understand their electrophysiologic substrates. In this article we focus on the 4 subjects related to pediatric ECGI: 1) ECGI in patients with congenital heart disease and Wolff-Parkinson-White syndrome, 2) ECGI in patients with hypertrophic cardiomyopathy and pre-excitation, 3) ECGI in pediatric patients with Wolff-Parkinson-White syndrome, and 4) ECGI for pediatric cardiac resynchronization therapy. PMID:25722754

  5. What Is a Pediatric Endocrinologist?

    MedlinePlus

    ... dealing with children and in treating children with endocrine disorders and hormonal problems. If your pediatrician suggests that your child see a pediatric endocrinologist, you can be assured that your child will receive the best possible care. To find a pediatrician or pediatric specialist in ... © Copyright 2016 American Academy of Pediatrics. All rights reserved.

  6. The Pediatric Cardiomyopathy Registry: 1995–2007

    PubMed Central

    Wilkinson, James D.; Sleeper, Lynn A.; Alvarez, Jorge A.; Bublik, Natalya; Lipshultz, Steven E.

    2008-01-01

    Cardiomyopathy is a serious disorder of the heart muscle and, although rare, it is potentially devastating in children. Funded by the National Heart Lung and Blood Institute since 1994, the Pediatric Cardiomyopathy Registry (PCMR) was designed to describe the epidemiology and clinical course of selected CMs in patients 18 years old or younger and to promote the development of etiology-specific prevention and treatment strategies. Currently, data from more than 3,000 children with cardiomyopathy have been entered in the PCMR database with annual follow-up continuing until death, heart transplant, or loss-to-follow up. Using PCMR data, the incidence of cardiomyopathy in two large regions of the United States is estimated to be 1.13 cases per 100,000 children. Only 1/3 of children had a known etiology at the time of cardiomyopathy diagnosis. Diagnosis was associated with certain patient characteristics, family history, echocardiographic findings, laboratory testing, and biopsy. Greater incidence was found in boys and infants (<1 yr) for both dilated and hypertrophic cardiomyopathy (DCM, HCM) and black race for only DCM. In DCM, prognosis is worse in older children (>1yr), heart failure (HF) at diagnosis or idiopathic etiology. For HCM, worse prognosis is associated with inborn errors of metabolism or combination of HCM and another cardiomyopathy functional type. The best outcomes were observed in children presenting at age >1 yr with idiopathic HCM. PCMR data have enabled analysis of patients with cardiomyopathy and muscular dystrophy, as well as Noonan Syndrome. Currently, collaborations with the Pediatric Heart Transplant Study group and a newly established Pediatric Cardiomyopathy Biologic Specimen Repository at Texas Children’s Hospital will continue to yield important results. The PCMR is the largest and most complete multi-center prospective data resource regarding the etiology, clinical course and outcomes for children with cardiomyopathy. PMID:19343086

  7. Integrative Pediatrics: Looking Forward

    PubMed Central

    McClafferty, Hilary

    2015-01-01

    Increase in the prevalence of disease and illness has dramatically altered the landscape of pediatrics. As a result, there is a demand for pediatricians with new skills and a sharper focus on preventative health. Patient demand and shifting pediatric illness patterns have accelerated research in the field of pediatric integrative medicine. This emerging field can be defined as healing-oriented medicine that considers the whole child, including all elements of lifestyle and family health. It is informed by evidence and carefully weighs all appropriate treatment options. This Special Issue of Children, containing a collection of articles written by expert clinicians, represents an important educational contribution to the field. The goal of the edition is to raise awareness about integrative topics with robust supporting evidence, and to identify areas where more research is needed.

  8. Ethics in pediatric dermatology.

    PubMed

    Kelly, John B; Makkar, Hanspaul S

    2012-01-01

    The patient-parent-physician relationship is central to studying medical ethics in pediatric dermatology. The rights of children in medical decision making are ambiguous, and parents and physicians will often override the autonomy of a child when a particular treatment is deemed to be in the child's best interest. The use of physical restraint to enforce a treatment should be justified, and a reasonable attempt should be made to ensure the cooperation of the child, if possible. Medical photography is central to the practice of pediatric dermatology in that it allows for serial observation of cutaneous lesions over time. Established guidelines and standards should be followed. Pediatric dermatologists frequently prescribe medications off-label; if following established professional standards, and prescribing with good intention, off-label prescribing can be appropriate and rational. PMID:22902215

  9. Clinicopathologic Features of Pediatric Oligodendrogliomas

    PubMed Central

    Rodriguez, Fausto J.; Tihan, Tarik; Lin, Doris; McDonald, William; Nigro, Janice; Feuerstein, Burt; Jackson, Sadhana; Cohen, Kenneth; Burger, Peter C.

    2015-01-01

    Oligodendrogliomas are an important adult form of diffuse gliomas with a distinctive clinical and genetic profile. Histologically similar tumors occurring rarely in children are incompletely characterized. We studied 50 patients with oligodendrogliomas (median age at diagnosis 8 y, range 7mo to 20 y). Tumors resembling dysembryoplastic neuroepithelial tumors or pilocytic astrocytomas or those having a “mixed” histology were excluded. Tumors at first diagnosis were low grade (n=38) or anaplastic (n=12). Histologic features included uniform round cells with perinuclear halos (100%), secondary structures (predominantly perineuronal satellitosis) (90%), calcifications (46%), and microcysts (44%). Sequential surgical specimens were obtained in 8 low-grade oligodendroglioma patients, with only 1 progressing to anaplasia. Studies for 1p19q performed in 40 cases demonstrated intact 1p19q loci in 29 (73%), 1p19q codeletion in 10 (25%), and 1p deletion with intact 19q in 1 (2%). Except for 2 young patients (3 and 11 y of age), patients with 1p19q codeletion were older than 16 years at diagnosis. Mutant IDH1 (R132H) protein immunohistochemistry was positive in 4 (of 22) (18%) cases, 3 of which also had 1p19q codeletion, whereas 1p19q status was not available on the fourth case. There was a nonsignificant trend for worse overall survival in grade III tumors, but no significant association with age, extent of resection, or 1p19q status. In summary, oligodendrogliomas with classic histology occur in the pediatric population but lack 1p19q codeletion and IDH1 (R132H) mutations in most instances. They are predominantly low grade, recur/clinically progress in a subset, but demonstrate a relatively low frequency of histologic progression. PMID:24805856

  10. Pediatric intestinal motility disorders

    PubMed Central

    Gfroerer, Stefan; Rolle, Udo

    2015-01-01

    Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of life of the affected patient. Furthermore, some of these conditions might also have implications for adulthood. Pediatric intestinal motility disorders frequently present as chronic constipation in toddler age children. Most of these conditions are functional, meaning that constipation does not have an organic etiology, but in 5% of the cases, an underlying, clearly organic disorder can be identified. Patients with organic causes for intestinal motility disorders usually present in early infancy or even right after birth. The most striking clinical feature of children with severe intestinal motility disorders is the delayed passage of meconium in the newborn period. This sign is highly indicative of the presence of Hirschsprung disease (HD), which is the most frequent congenital disorder of intestinal motility. HD is a rare but important congenital disease and the most significant entity of pediatric intestinal motility disorders. The etiology and pathogenesis of HD have been extensively studied over the last several decades. A defect in neural crest derived cell migration has been proven as an underlying cause of HD, leading to an aganglionic distal end of the gut. Numerous basic science and clinical research related studies have been conducted to better diagnose and treat HD. Resection of the aganglionic bowel remains the gold standard for treatment of HD. Most recent studies show, at least experimentally, the possibility of a stem cell based therapy for HD. This editorial also includes rare causes of pediatric intestinal motility disorders such as hypoganglionosis, dysganglionosis, chronic intestinal pseudo-obstruction and ganglioneuromatosis in multiple endocrine metaplasia. Underlying organic pathologies are rare in pediatric intestinal motility disorders but must be recognized as early as

  11. Pediatric intestinal motility disorders.

    PubMed

    Gfroerer, Stefan; Rolle, Udo

    2015-09-01

    Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of life of the affected patient. Furthermore, some of these conditions might also have implications for adulthood. Pediatric intestinal motility disorders frequently present as chronic constipation in toddler age children. Most of these conditions are functional, meaning that constipation does not have an organic etiology, but in 5% of the cases, an underlying, clearly organic disorder can be identified. Patients with organic causes for intestinal motility disorders usually present in early infancy or even right after birth. The most striking clinical feature of children with severe intestinal motility disorders is the delayed passage of meconium in the newborn period. This sign is highly indicative of the presence of Hirschsprung disease (HD), which is the most frequent congenital disorder of intestinal motility. HD is a rare but important congenital disease and the most significant entity of pediatric intestinal motility disorders. The etiology and pathogenesis of HD have been extensively studied over the last several decades. A defect in neural crest derived cell migration has been proven as an underlying cause of HD, leading to an aganglionic distal end of the gut. Numerous basic science and clinical research related studies have been conducted to better diagnose and treat HD. Resection of the aganglionic bowel remains the gold standard for treatment of HD. Most recent studies show, at least experimentally, the possibility of a stem cell based therapy for HD. This editorial also includes rare causes of pediatric intestinal motility disorders such as hypoganglionosis, dysganglionosis, chronic intestinal pseudo-obstruction and ganglioneuromatosis in multiple endocrine metaplasia. Underlying organic pathologies are rare in pediatric intestinal motility disorders but must be recognized as early as

  12. Crosscheck Principle in Pediatric Audiology Today: A 40-Year Perspective.

    PubMed

    Hall, James W

    2016-09-01

    The crosscheck principle is just as important in pediatric audiology as it was when first described 40 years ago. That is, no auditory test result should be accepted and used in the diagnosis of hearing loss until it is confirmed or crosschecked by one or more independent measures. Exclusive reliance on only one or two tests, even objective auditory measures, may result in a auditory diagnosis that is not clear or perhaps incorrect. On the other hand, close and careful analysis of findings for a test battery consisting of objective procedures and behavioral tests whenever feasible usually leads to prompt and accurate diagnosis of auditory dysfunction. This paper provides a concise review of the crosscheck principle from its introduction to its clinical application today. The review concludes with a description of a modern test battery for pediatric hearing assessment that supplements traditional behavioral tests with a variety of independent objective procedures including aural immittance measures, otoacoustic emissions, and auditory evoked responses. PMID:27626077

  13. Crosscheck Principle in Pediatric Audiology Today: A 40-Year Perspective

    PubMed Central

    2016-01-01

    The crosscheck principle is just as important in pediatric audiology as it was when first described 40 years ago. That is, no auditory test result should be accepted and used in the diagnosis of hearing loss until it is confirmed or crosschecked by one or more independent measures. Exclusive reliance on only one or two tests, even objective auditory measures, may result in a auditory diagnosis that is not clear or perhaps incorrect. On the other hand, close and careful analysis of findings for a test battery consisting of objective procedures and behavioral tests whenever feasible usually leads to prompt and accurate diagnosis of auditory dysfunction. This paper provides a concise review of the crosscheck principle from its introduction to its clinical application today. The review concludes with a description of a modern test battery for pediatric hearing assessment that supplements traditional behavioral tests with a variety of independent objective procedures including aural immittance measures, otoacoustic emissions, and auditory evoked responses. PMID:27626077

  14. Pediatric Extranodal Lymphoma.

    PubMed

    Chung, Ellen M; Pavio, Michael

    2016-07-01

    Lymphoma is the third most common pediatric neoplasm. Non-Hodgkin lymphoma (NHL) accounts for nearly half of cases and commonly involves extranodal sites. Compared with adults, this histologic spectrum of pediatric NHL is very narrow and consists of aggressive tumors. Patients typically present with widespread disease. Generally, NHL occurring in children includes Burkitt lymphoma, lymphoblastic lymphoma, diffuse large B-cell lymphoma, and anaplastic large cell lymphoma. Staging and assessment of therapeutic response are usually based on FDG-PET/CT. Due to the increased susceptibility of young patients to the effects of ionizing radiation, alternative methods of imaging are being explored. PMID:27265605

  15. Pediatric palliative care.

    PubMed

    Moody, Karen; Siegel, Linda; Scharbach, Kathryn; Cunningham, Leslie; Cantor, Rabbi Mollie

    2011-06-01

    Progress in pediatric palliative care has gained momentum, but there remain significant barriers to the appropriate provision of palliative care to ill and dying children, including the lack of properly trained health care professionals, resources to finance such care, and scientific research, as well as a continued cultural denial of death in children. This article reviews the epidemiology of pediatric palliative care, special communication concerns, decision making, ethical and legal considerations, symptom assessment and management, psychosocial issues, provision of care across settings, end-of-life care, and bereavement. Educational and supportive resources for health care practitioners and families, respectively, are included. PMID:21628042

  16. Pediatric Abdominal Organ Transplantation: Current Indications, Techniques, and Imaging Findings.

    PubMed

    Stanescu, A Luana; Hryhorczuk, Anastasia L; Chang, Patricia T; Lee, Edward Y; Phillips, Grace S

    2016-03-01

    The anatomy, normal postoperative radiological appearance, and imaging features of common postoperative complications of pediatric abdominal transplants are reviewed, including renal, liver, and intestinal transplants. Doppler ultrasound is the mainstay of imaging after transplantation. Computed tomography (CT) and CT angiography, MR imaging and magnetic resonance (MR) angiography, MR cholangiopancreatography, conventional angiography, and nuclear medicine imaging may be used for problem-solving in pediatric transplant patients. Accurate and timely radiological diagnosis of transplant complications facilitates appropriate treatment and minimizes morbidity and mortality. PMID:26896225

  17. Hypocretin deficiency in narcolepsy with cataplexy is associated with a normal body core temperature modulation.

    PubMed

    Grimaldi, Daniela; Agati, Patrizia; Pierangeli, Giulia; Franceschini, Christian; Guaraldi, Pietro; Barletta, Giorgio; Vandi, Stefano; Cevoli, Sabina; Plazzi, Giuseppe; Montagna, Pasquale; Cortelli, Pietro

    2010-09-01

    Narcolepsy with cataplexy (NC) is a sleep disorder caused by the loss of the hypothalamic neurons producing hypocretin. The clinical hallmarks of the disease are excessive daytime sleepiness, cataplexy, other rapid eye movement (REM) sleep phenomena, and a fragmented wake-sleep cycle. Experimental data suggest that the hypocretin system is involved primarily in the circadian timing of sleep and wakefulness but also in the control of other biological functions such as thermoregulation. The object of this study was to determine the effects of the hypocretin deficit and of the wake-sleep cycle fragmentation on body core temperature (BcT) modulation in a sample of drug-free NC patients under controlled conditions. Ten adult NC patients with low cerebrospinal fluid (CSF) hypocretin levels (9 men; age: 38 ± 12 yrs) were compared with 10 healthy control subjects (7 men; age: 44.9 ± 12 yrs). BcT and sleep-wake cycle were continuously monitored for 44 h from 12:00 h. During the study, subjects were allowed to sleep ad libitum, living in a temperature- and humidity-controlled room, lying in bed except when eating, in a light-dark schedule (dark [D] period: 23:00-07:00 h). Sleep structure was analyzed over the 24-h period, the light (L) and the D periods. The wake-sleep cycle fragmentation was determined by calculating the frame-shift index (number of 30-s sleep stage shifts occurring every 15 min) throughout the 44-h study. The analysis of BcT circadian rhythmicity was performed according to the single cosinor method. The time-course changes in BcT and in frame-shift index were compared between narcoleptics and controls by testing the time × group (controls versus NC subjects) interaction effect. The state-dependent analysis of BcT during D was performed by fitting a mixed model where the factors were wake-sleep phases (wake, NREM stages 1 and 2, slow-wave sleep, and REM sleep) and group. The results showed that NC patients slept significantly more than

  18. Psychological issues in pediatric obesity

    PubMed Central

    Kalra, Gurvinder; De Sousa, Avinash; Sonavane, Sushma; Shah, Nilesh

    2012-01-01

    Pediatric obesity is a major health problem and has reached epidemiological proportions today. The present paper reviews major psychological issues in pediatric obesity from a developmental perspective. Research and literature has shown that a number of developmental, family, maternal and child factors are responsible in the genesis of pediatric obesity. Family food habits, early developmental lifestyle of the child, parenting, early family relationships and harmony all contribute towards the growth and development of a child. The present review focuses on the role of developmental psychological factors in the pathogenesis of pediatric obesity and highlights the developmental factors that must be kept in mind when evaluating a case of pediatric obesity. PMID:23766572

  19. The future of pediatric research.

    PubMed

    Boat, Thomas F

    2007-11-01

    The future of pediatric research will be enhanced by strengthening traditional biomedical approaches and embracing emerging opportunities. Biomedical discovery and translation of new knowledge, concepts, and devices into better diagnostic and therapeutic options will require more pediatric physician-scientists, rapid adoption of enabling technologies, increased funding for research and research training (including the creation of federally funded pediatric translational research centers), and a broader distribution of research activities across the academic pediatric community. Rapid improvement of child health outcomes also will be realized through robust health services research in pediatrics, including the application of rigorous quality improvement science that documents and disseminates successful interventions, leading to better access and effectiveness of care. Improving the value of pediatric care is a realistic goal. Achieving better outcomes through individually tailored (personalized) care for children should be tested experimentally. The future of pediatrics is bright, but will depend on the recognition of and response to a growing array of exciting opportunities. PMID:17950318

  20. Pediatric Low Vision

    MedlinePlus

    ... Asked Questions Español Condiciones Chinese Conditions Pediatric Low Vision What is Low Vision? Partial vision loss that cannot be corrected causes ... and play. What are the signs of Low Vision? Some signs of low vision include difficulty recognizing ...

  1. Pediatric Urinary Tract Infection

    MedlinePlus

    SBA National Resource Center: 800-621-3141 Pediatric Urinary Tract Infections and Catheterization in Children with Neurogenic Bladder and ... To protect the kidneys from damage – By preventing urinary tract infections (UTI) – By identifying and treating vesicoureteral remux (VUR). ...

  2. Pediatric functional gastrointestinal disorders

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Functional gastrointestinal disorders continue to be a prevalent set of conditions faced by the healthcare team and have a significant emotional and economic impact. In this review, the authors highlight some of the common functional disorders seen in pediatric patients (functional dyspepsia, irrita...

  3. Pediatric heart surgery

    MedlinePlus

    Heart surgery - pediatric; Heart surgery for children; Acquired heart disease; Heart valve surgery - children ... There are many kinds of heart defects. Some are minor, and others are more serious. Defects can occur inside the heart or in the large blood vessels ...

  4. Pediatric Traumatic Brain Injury.

    PubMed

    Schaller, Alexandra L; Lakhani, Saquib A; Hsu, Benson S

    2015-10-01

    The purpose of this article is to provide a better understanding of pediatric traumatic brain injury and its management. Within the pediatric age group, ages 1 to 19, injuries are the number one cause of death with traumatic brain injury being involved in almost 50 percent of these cases. This, along with the fact that the medical system spends over $1 billion annually on pediatric traumatic brain injury, makes this issue both timely and relevant to health care providers. Over the course of this article the epidemiology, physiology, pathophysiology, and treatment of pediatric traumatic brain injury will be explored. Emphasis will be placed on the role of the early responder and the immediate interventions that should be considered and/or performed. The management discussed in this article follows the most recent recommendations from the 2012 edition of the Guidelines for the Acute Medical Management of Severe Traumatic Brain Injury in Infants, Children, and Adolescents. Despite the focus of this article, it is important not to lose sight of the fact that an ounce of prevention is worth a pound--or, to be more precise and use the average human's brain measurements, just above three pounds--of cure. PMID:26630835

  5. Pharmacotherapy of Pediatric Insomnia

    ERIC Educational Resources Information Center

    Owens, Judith A.

    2009-01-01

    General guidelines for the use of medication to treat pediatric insomnia are presented. It should be noted that medication is not the first treatment choice and should be viewed within the context of a more comprehensive treatment plan. The pharmacological and clinical properties of over the counter medications and FDA-approved insomnia drugs are…

  6. Pediatric head trauma

    PubMed Central

    Alexiou, George A; Sfakianos, George; Prodromou, Neofytos

    2011-01-01

    Head injury in children accounts for a large number of emergency department visits and hospital admissions. Falls are the most common type of injury, followed by motor-vehicle-related accidents. In the present study, we discuss the evaluation, neuroimaging and management of children with head trauma. Furthermore, we present the specific characteristics of each type of pediatric head injury. PMID:21887034

  7. Pediatric Glaucoma: Pharmacotherapeutic Options.

    PubMed

    Samant, Monica; Medsinge, Anagha; Nischal, Ken K

    2016-06-01

    Childhood glaucoma is a major therapeutic challenge for pediatric ophthalmologists and glaucoma specialists worldwide. Management depends on the etiology and age at presentation. A variety of drugs are available for the control of intraocular pressure in children; however, none of these drugs have been licensed by the regulatory agencies for use in children. Furthermore, evidence gained from randomized controlled trials in the pediatric population is sparse, and little is known regarding the use of newer anti-glaucoma preparations. This evidence-based review aims to discuss the available pharmacotherapeutic options for glaucoma in children. Topical adrenoceptor blockers, topical and systemic carbonic anhydrase inhibitors, prostaglandin (PG) analogs, adrenoceptor agonists, parasympathomimetics, and combined preparations are available for use in children, but usually as an off-label indication. Therefore, it is important to recognize that serious side effects have been reported, even with topical drops, and measures to reduce systemic absorption should be taken. Most drugs have been shown to have comparable ocular hypotensive effects, with the lowest occurrence of systemic side effects with PG analogs. Whereas a newly introduced prostaglandin analog, tafluprost, and some other preservative-free preparations have shown promising results in adult glaucoma patients, no pediatric reports are available as yet. Future studies may describe their role in treating pediatric glaucoma. This review also shares some suggested treatment pathways for primary congenital glaucoma (PCG), juvenile open angle glaucoma (JOAG), developmental glaucoma, aphakic/pseudophakic glaucoma, and uveitic glaucoma. PMID:27093864

  8. Pediatric psoriasis: an update

    PubMed Central

    Silverberg, Nanette B

    2009-01-01

    Pediatric psoriasis consists broadly of 3 age groups of psoriatic patients: infantile psoriasis, a self-limited disease of infancy, psoriasis with early onset, and pediatric psoriasis with psoriatic arthritis. About one-quarter of psoriasis cases begin before the age of 18 years. A variety of clinical psoriasis types are seen in childhood, including plaque-type, guttate, erythrodermic, napkin, and nail-based disease. Like all forms of auto-immunity, susceptibility is likely genetic, but environmental triggers are required to initiate disease activity. The most common trigger of childhood is an upper respiratory tract infection. Once disease has occurred, treatment is determined based on severity and presence of joint involvement. Topical therapies, including corticosteroids and calcipotriene, are the therapies of choice in the initial care of pediatric patients. Ultraviolet light, acitretin and cyclosporine can clear skin symptoms, while methotrexate and etanercept can clear both cutaneous and joint disease. Concern for psychological development is required when choosing psoriatic therapies. This article reviews current concepts in pediatric psoriasis and a rational approach to therapeutics. PMID:19898649

  9. Testing Physical Diagnosis Skills with Videotape

    ERIC Educational Resources Information Center

    Stillman, Paula L.; And Others

    1977-01-01

    An inexpensive videotape testing system has been developed at the Department of Pediatrics and Department of Medical TV-Cinematography at the University of Arizona College of Medicine. The development and validation of a test using this system to assess observational skills important for accurate physical diagnosis are described. (LBH)

  10. Pediatric Short Bowel Syndrome

    PubMed Central

    Spencer, Ariel U.; Neaga, Andreea; West, Brady; Safran, Jared; Brown, Pamela; Btaiche, Imad; Kuzma-O'Reilly, Barbara; Teitelbaum, Daniel H.

    2005-01-01

    Objective: To determine predictors of survival and of weaning off parenteral nutrition (PN) in pediatric short bowel syndrome (SBS) patients. Summary Background Data: Pediatric SBS carries extensive morbidity and high mortality, but factors believed to predict survival or weaning from PN have been based on limited studies. This study reviews outcomes of a large number of SBS infants and identifies predictors of success. Methods: Multivariate Cox proportional hazards analysis was conducted on 80 pediatric SBS patients. Primary outcome was survival; secondary outcome was ability to wean off PN. Nonsignificant covariates were eliminated. P < 0.05 was considered significant. Results: Over a mean of 5.1 years of follow-up, survival was 58 of 80 (72.5%) and 51 weaned off PN (63.8%). Cholestasis (conjugated bilirubin ≥2.5 mg/dL) was the strongest predictor of mortality (relative risk [RR] 22.7, P = 0.005). Although absolute small bowel length was only slightly predictive, percentage of normal bowel length (for a given infant's gestational age) was strongly predictive of mortality (if <10% of normal length, RR of death was 5.7, P = 0.003) and of weaning PN (if ≥10% of normal, RR of weaning PN was 11.8, P = 0.001). Presence of the ileocecal valve (ICV) also strongly predicted weaning PN (RR 3.9, P < 0.0005); however, ICV was not predictive of survival. Conclusions: Cholestasis and age-adjusted small bowel length are the major predictors of mortality in pediatric SBS. Age-adjusted small bowel length and ICV are the major predictors of weaning from PN. These data permit better prediction of outcomes of pediatric SBS, which may help to direct future management of these challenging patients. PMID:16135926

  11. Therapeutic Approach to the Management of Pediatric Demyelinating Disease: Multiple Sclerosis and Acute Disseminated Encephalomyelitis.

    PubMed

    Brenton, J Nicholas; Banwell, Brenda L

    2016-01-01

    Acquired pediatric demyelinating diseases manifest acutely with optic neuritis, transverse myelitis, acute disseminated encephalomyelitis, or with various other acute deficits in focal or polyfocal areas of the central nervous system. Patients may experience a monophasic illness (as in the case of acute disseminated encephalomyelitis) or one that may manifest as a chronic, relapsing disease [e.g., multiple sclerosis (MS)]. The diagnosis of pediatric MS and other demyelinating disorders of childhood has been facilitated by consensus statements regarding diagnostic definitions. Treatment of pediatric MS has been modeled after data obtained from clinical trials in adult-onset MS. There are now an increasing number of new therapeutic agents for MS, and many will be formally studied for use in pediatric patients. There are important efficacy and safety concerns regarding the use of these therapies in children and young adults. This review will discuss acute management as well as chronic immunotherapies in acquired pediatric demyelination. PMID:26496907

  12. Adalimumab for the treatment of pediatric Crohn's disease.

    PubMed

    Nuti, Federica; Fiorino, Gionata; Danese, Silvio

    2015-01-01

    Inflammatory bowel diseases are characterized by a chronic relapsing course, high morbidity and impaired quality of life. Their incidence is rising, and about 25% of cases are diagnosed in pediatric age. Anti-TNF-α antibodies, such as infliximab and adalimumab (ADA), are usually administered in patients refractory to conventional therapies. However, increasing evidence suggests that they can be introduced earlier in the course of the disease, especially in patients with aggressive and extensive disease since diagnosis. ADA is a fully human anti-TNF-α antibody recently approved for pediatric Crohn's disease not only in patients unresponsive to infliximab, but also as a first-line anti-TNF-α therapy. In this review, we aim to summarize the current knowledge on the use of ADA in pediatric Crohn's disease and to discuss open issues regarding safety as well as future perspectives. PMID:26211396

  13. [Systemic sarcoidosis: a diagnostic challenge in pediatrics. Case report].

    PubMed

    Díaz Angarita, Tomás; Morales Camacho, William; Lozano Neira, Laura; Plata Ortiz, Jessica; Zárate Taborda, Linda

    2016-10-01

    Sarcoidosis is a granulomatous inflammatory disease of unknown etiology, evidenced most often in young adults, which can compromise several organs, mainly lung, lymph nodes, eyes and skin. The presence of the disease in pediatric population is rare. Denomination in pediatrics is made based on age and clinical manifestations of the patient. The aim of this report is to present a case of systemic sarcoidosis in a pediatric patient without lung involvement with severe extrapulmonary manifestations. Fifteen year old patient who debuted with nonspecific symptoms (emesis, weight loss). Radiographic studies without lung involvement but with findings suggestive of Langerhans cell histiocytosis; however, histopathological report (bone and lymph) showed the presence of chronic granulomatous nonnecrotizing disease, sarcoidosis type. Childhood sarcoidosis is a rare and difficult entity to diagnose, mainly by the lack of specific biomarkers for diagnosis. PMID:27606655

  14. Ultrasonographic imaging of inflammatory bowel disease in pediatric patients

    PubMed Central

    Chiorean, Liliana; Schreiber-Dietrich, Dagmar; Braden, Barbara; Cui, Xin-Wu; Buchhorn, Reiner; Chang, Jian-Min; Dietrich, Christoph F

    2015-01-01

    Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases in pediatric patients. Choosing the optimal imaging modality for the assessment of gastrointestinal disease in pediatric patients can be challenging. The invasiveness and patient acceptance, the radiation exposure and the quality performance of the diagnostic test need to be considered. By reviewing the literature regarding imaging in inflammatory bowel disease the value of ultrasound in the clinical management of pediatric patients is highlighted. Transabdominal ultrasound is a useful, noninvasive method for the initial diagnosis of IBD in children; it also provides guidance for therapeutic decisions and helps to characterize and predict the course of the disease in individual patients. Ultrasound techniques including color Doppler imaging and contrast-enhanced ultrasound are promising imaging tools to determine disease activity and complications. Comparative studies between different imaging methods are needed. PMID:25954096

  15. Snapshot of Pediatric Cancers

    MedlinePlus

    ... Partners & Collaborators Spotlight on Scientists Research Areas Cancer Biology Cancer Genomics Causes of Cancer Diagnosis Prevention Screening & ... Collaborators Spotlight on Scientists NCI Research Areas Cancer Biology Cancer Genomics Causes of Cancer Diagnosis Prevention Screening & ...

  16. Esophageal eosinophilia in pediatric patients with cerebral palsy

    PubMed Central

    de Nápolis, Ana Carolina Ramos; Alves, Flavia Araujo; Rezende, Erica Rodrigues Mariano de Almeida; Segundo, Gesmar Rodrigues Silva

    2015-01-01

    ABSTRACT Objective: To describe the clinical picture, test results, and clinical evolution of patients with cerebral palsy associated with diagnosis of eosinophilic esophagitis, monitored at tertiary centre. Methods: Cross-sectional, retrospective and descriptive study that evaluated the medical records data of pediatric patients with diagnosis of cerebral palsy and eosinophilic esophagitis in a tertiary center of pediatric gastroenterology between August 2005 and August 2013. Results: Seven out of 131 patients with cerebral palsy had the diagnosis of eosinophilic esophagitis. The mean age at diagnosis of eosinophilic esophagitis was 52.3 months and the mean number of eosinophils in esophagus was 35 per high-power field. Symptoms more frequent were recurrent vomiting and disphagia. Endoscopic alterations found were mucosal thickening, vertical lines, mucosal opacificacion and white plaques. Conclusion: The frequency of eosinophilic esophagitis found was higher than in general pediatric population. The investigation of eosinophilic esophagitis should be done regularly in those patients, once this entity could overlap other gastrointestinal diseases. PMID:26154544

  17. Clear otorrhea: a case of Munchausen syndrome in a pediatric patient

    PubMed Central

    Özmen, Ömer Afşin; Yılmaz, Taner

    2007-01-01

    This paper reports a case of Munchausen syndrome in a pediatric patient. An 11-year-old girl presented with the complaint of clear fluid otorrhea. She underwent numerous investigations with deception of the physicians. The literature with respect to Munchausen syndrome in the pediatric patient is reviewed. Diagnosis of Munchausen syndrome is difficult especially during the initial assessment, although suspicion might be aroused by inconsistencies in the patient’s history and discrepancies between signs and symptoms. PMID:18030485

  18. No Evidence for Disease History as a Risk Factor for Narcolepsy after A(H1N1)pdm09 Vaccination

    PubMed Central

    Lamb, Favelle; Ploner, Alexander; Fink, Katharina; Maeurer, Markus; Bergman, Peter; Piehl, Fredrik; Weibel, Daniel; Sparén, Pär; Dahlström, Lisen Arnheim

    2016-01-01

    Objectives To investigate disease history before A(H1N1)pdm09 vaccination as a risk factor for narcolepsy. Methods Case-control study in Sweden. Cases included persons referred for a Multiple Sleep Latency Test between 2009 and 2010, identified through diagnostic sleep centres and confirmed through independent review of medical charts. Controls, selected from the total population register, were matched to cases on age, gender, MSLT-referral date and county of residence. Disease history (prescriptions and diagnoses) and vaccination history was collected through telephone interviews and population-based healthcare registers. Conditional logistic regression was used to investigate disease history before A(H1N1)pdm09 vaccination as a risk-factor for narcolepsy. Results In total, 72 narcolepsy cases and 251 controls were included (range 3–69 years mean19-years). Risk of narcolepsy was increased in individuals with a disease history of nervous system disorders (OR range = 3.6–8.8) and mental and behavioural disorders (OR = 3.8, 95% CI 1.6–8.8) before referral. In a second analysis of vaccinated individuals only, nearly all initial associations were no longer statistically significant and effect sizes were smaller (OR range = 1.3–2.6). A significant effect for antibiotics (OR = 0.4, 95% CI 0.2–0.8) and a marginally significant effect for nervous system disorders was observed. In a third case-only analysis, comparing cases referred before vaccination to those referred after; prescriptions for nervous system disorders (OR = 26.0 95% CI 4.0–170.2) and ADHD (OR = 35.3 95% CI 3.4–369.9) were statistically significant during the vaccination period, suggesting initial associations were due to confounding by indication. Conclusion The findings of this study do not support disease history before A(H1N1)pdm09 vaccination as a risk factor for narcolepsy. PMID:27120092

  19. No Serological Evidence of Influenza A H1N1pdm09 Virus Infection as a Contributing Factor in Childhood Narcolepsy after Pandemrix Vaccination Campaign in Finland

    PubMed Central

    Melén, Krister; Partinen, Markku; Tynell, Janne; Sillanpää, Maarit; Himanen, Sari-Leena; Saarenpää-Heikkilä, Outi; Hublin, Christer; Olsen, Päivi; Ilonen, Jorma; Nohynek, Hanna; Syrjänen, Ritva; Kilpi, Terhi; Vuorela, Arja; Kirjavainen, Turkka; Vaarala, Outi; Julkunen, Ilkka

    2013-01-01

    Background Narcolepsy cataplexy syndrome, characterised by excessive daytime sleepiness and cataplexy, is strongly associated with a genetic marker, human leukocyte antigen (HLA) DQB1*06:02. A sudden increase in the incidence of childhood narcolepsy was observed after vaccination with AS03-adjuvanted Pandemrix influenza vaccine in Finland at the beginning of 2010. Here, we analysed whether the coinciding influenza A H1N1pdm pandemic contributed, together with the Pandemrix vaccination, to the increased incidence of childhood narcolepsy in 2010. The analysis was based on the presence or absence of antibody response against non-structural protein 1 (NS1) from H1N1pdm09 virus, which was not a component of Pandemrix vaccine. Methods Non-structural (NS) 1 proteins from recombinant influenza A/Udorn/72 (H3N2) and influenza A/Finland/554/09 (H1N1pdm09) viruses were purified and used in Western blot analysis to determine specific antibody responses in human sera. The sera were obtained from 45 patients who fell ill with narcolepsy after vaccination with AS03-adjuvanted Pandemrix at the end of 2009, and from controls. Findings Based on quantitative Western blot analysis, only two of the 45 (4.4%) Pandemrix-vaccinated narcoleptic patients showed specific antibody response against the NS1 protein from the H1N1pdm09 virus, indicating past infection with the H1N1pdm09 virus. Instead, paired serum samples from patients, who suffered from a laboratory confirmed H1N1pdm09 infection, showed high levels or diagnostic rises (96%) in H1N1pdm virus NS1-specific antibodies and very high cross-reactivity to H3N2 subtype influenza A virus NS1 protein. Conclusion Based on our findings, it is unlikely that H1N1pdm09 virus infection contributed to a sudden increase in the incidence of childhood narcolepsy observed in Finland in 2010 after AS03-adjuvanted Pandemrix vaccination. PMID:23950869

  20. What Is a Pediatric Infectious Diseases Specialist?

    MedlinePlus

    ... Size Email Print Share What is a Pediatric Infectious Diseases Specialist? Page Content Article Body If your child ... teen years. What Kind of Training Do Pediatric Infectious Diseases Specialists Have? Pediatric infectious diseases specialists are medical ...

  1. What Is a Pediatric Sports Medicine Specialist?

    MedlinePlus

    ... Email Print Share What is a Pediatric Sports Medicine Specialist? Page Content Article Body If your child ... teens. What Kind of Training Do Pediatric Sports Medicine Specialists Have? Pediatric sports medicine specialists are medical ...

  2. What Is a Pediatric Critical Care Specialist?

    MedlinePlus

    ... Email Print Share What is a Pediatric Critical Care Specialist? Page Content Article Body If your child ... PICU. What Kind of Training Do Pediatric Critical Care Specialists Have? Pediatric critical care specialists are medical ...

  3. Pediatric Nasopharyngeal Cancer: Case Report and Review of the Literature

    PubMed Central

    González, Garvin; Bermudéz, Yurany; Maldonado, Maria C; Castañeda, Javier M; Lopéz, David; Cotes-Mestre, Martha

    2016-01-01

    Pediatric nasopharyngeal carcinoma, also referred to as cavum carcinoma, is a rare pediatric disease with an infrequent incidence rate. We present the case of a pediatric patient with nasopharyngeal cancer who received an adult schedule of concomitant chemotherapy and conformal radiotherapy with a brachytherapy boost. Adult protocols with high radiotherapy doses are not commonly used in pediatric patients due to the high comorbidity associated with this practice. In this case, the patient displayed excellent overall survival, a longer disease-free period, and fewer side effects and comorbidities, even in the absence of interferon therapy, which is not easily available in low-income countries. In addition, this case shows that conformal radiotherapy and brachytherapy are options that can be used to escalate the radiotherapy dose and decrease side effects. A 12-year-old female pediatric patient presented to our outpatient clinic with an eight-month history of moderate-to-severe otalgia, intermittent hyaline rhinorrhea, asthenia, adynamia, nasal congestion, epistaxis in the previous months, and local pruritus. Upon physical examination, a 60x60 mm mass was detected at level II of the neck, and a biopsy of the lesion confirmed a histopathological diagnosis of undifferentiated carcinoma compatible with nasopharyngeal carcinoma. The patient was considered to have clinical Stage III cancer, and she received an adult Al-Sarraf protocol with chemoradiotherapy and an intracavitary brachytherapy boost. The patient had a complete response, and she remains without local or distance relapse. Treating pediatric nasopharyngeal carcinoma patients with the Al-Sarraf protocol could be a feasible modality, as observed in this clinical case, despite the elevated cost of using interferon-beta in low-income countries when using more advanced radiotherapy techniques such as conformal radiotherapy and now, modulated intensity radiotherapy. It should be noted that brachytherapy boosts

  4. Pediatric Nasopharyngeal Cancer: Case Report and Review of the Literature.

    PubMed

    González-Motta, Alejandro; González, Garvin; Bermudéz, Yurany; Maldonado, Maria C; Castañeda, Javier M; Lopéz, David; Cotes-Mestre, Martha

    2016-01-01

    Pediatric nasopharyngeal carcinoma, also referred to as cavum carcinoma, is a rare pediatric disease with an infrequent incidence rate. We present the case of a pediatric patient with nasopharyngeal cancer who received an adult schedule of concomitant chemotherapy and conformal radiotherapy with a brachytherapy boost. Adult protocols with high radiotherapy doses are not commonly used in pediatric patients due to the high comorbidity associated with this practice. In this case, the patient displayed excellent overall survival, a longer disease-free period, and fewer side effects and comorbidities, even in the absence of interferon therapy, which is not easily available in low-income countries. In addition, this case shows that conformal radiotherapy and brachytherapy are options that can be used to escalate the radiotherapy dose and decrease side effects. A 12-year-old female pediatric patient presented to our outpatient clinic with an eight-month history of moderate-to-severe otalgia, intermittent hyaline rhinorrhea, asthenia, adynamia, nasal congestion, epistaxis in the previous months, and local pruritus. Upon physical examination, a 60x60 mm mass was detected at level II of the neck, and a biopsy of the lesion confirmed a histopathological diagnosis of undifferentiated carcinoma compatible with nasopharyngeal carcinoma. The patient was considered to have clinical Stage III cancer, and she received an adult Al-Sarraf protocol with chemoradiotherapy and an intracavitary brachytherapy boost. The patient had a complete response, and she remains without local or distance relapse. Treating pediatric nasopharyngeal carcinoma patients with the Al-Sarraf protocol could be a feasible modality, as observed in this clinical case, despite the elevated cost of using interferon-beta in low-income countries when using more advanced radiotherapy techniques such as conformal radiotherapy and now, modulated intensity radiotherapy. It should be noted that brachytherapy boosts

  5. Pediatric traumatic brain injuries treated with decompressive craniectomy

    PubMed Central

    Patel, Neil; West, Michael; Wurster, Joanie; Tillman, Cassie

    2013-01-01

    Background: Traumatic brain injury (TBI) occurs in an estimated 80% of all pediatric trauma patients and is the leading cause of death and disability in the pediatric population. Decompressive craniectomy is a procedure used to decrease intracranial pressure by allowing the brain room to swell and therefore increase cerebral perfusion to the brain. Methods: This is a retrospective study done at St. Mary's Medical Center/Palm Beach Children's Hospital encompassing a 3 year 7 month period. All the pediatric patients who sustained a TBI and who were treated with a decompressive craniectomy were included. The patients’ outcomes were monitored and scored according to the Rancho Los Amigos Score at the time of discharge from the hospital and 6 months postdischarge. Results: A total of 379 pediatric patients with a diagnosis of TBI were admitted during this time. All these patients were treated according to the severity of their injury. A total of 49 pediatric patients required neurosurgical intervention and 7 of these patients met the criteria for a decompressive craniectomy. All seven patients returned home with favorable outcomes. Conclusion: This study supports the current literature that decompressive craniectomy is no longer an intervention used as a last resort but an effective first line treatment to be considered. PMID:24232244

  6. Pediatric teledermatology: a survey of usage, perspectives, and practice.

    PubMed

    Fogel, Alexander L; Teng, Joyce M C

    2015-01-01

    Pediatric dermatology is one of the smallest subspecialties, and expanding the availability of care is of great interest. Teledermatology has been proposed as a way to expand access and improve care delivery, but no current assessment of pediatric teledermatology exists. The objective of the current study was to assess usage and perspectives on pediatric teledermatology. Surveys were distributed electronically to all 226 board-certified U.S. pediatric dermatologists; 44% (100/226) responded. Nearly all respondents (89%) have experience with teledermatology. Formal teledermatology reimbursement success rates have increased to 35%. Respondents were positive about teledermatology's present and future prospects, and 41% want to use teledermatology more often, although they viewed teledermatology as somewhat inferior to in-person care regarding accuracy of diagnosis and appropriation of management plans. Significant differences were found between formal teledermatology users and nonusers in salary structure, practice environment, sex, and region. Substantial increases in pediatric teledermatology have occurred in the last 5 to 10 years, and there remains cause for optimism for teledermatology's future. Concerns about diagnostic confidence and care quality indicate that teledermatology may be best for care of patients with characteristic clinical presentations or management of patients with established diagnoses. PMID:25691131

  7. Network analysis reveals potential markers for pediatric adrenocortical carcinoma

    PubMed Central

    Kulshrestha, Anurag; Suman, Shikha; Ranjan, Rakesh

    2016-01-01

    Pediatric adrenocortical carcinoma (ACC) is a rare malignancy with a poor outcome. Molecular mechanisms of pediatric ACC oncogenesis and advancement are not well understood. Accurate and timely diagnosis of the disease requires identification of new markers for pediatric ACC. Differentially expressed genes (DEGs) were identified from the gene expression profile of pediatric ACC and obtained from Gene Expression Omnibus. Gene Ontology functional and pathway enrichment analysis was implemented to recognize the functions of DEGs. A protein–protein interaction (PPI) and gene–gene functional interaction (GGI) network of DEGs was constructed. Hub gene detection and enrichment analysis of functional modules were performed. Furthermore, a gene regulatory network incorporating DEGs–microRNAs–transcription factors was constructed and analyzed. A total of 431 DEGs including 228 upregulated and 203 downregulated DEGs were screened. These genes were largely involved in cell cycle, steroid biosynthesis, and p53 signaling pathways. Upregulated genes, CDK1, CCNB1, CDC20, and BUB1B, were identified as the common hubs of PPI and GGI networks. All the four common hub genes were also part of modules of the PPI network. Moreover, all the four genes were also present in the largest module of GGI network. A gene regulatory network consisting of 82 microRNAs and 100 transcription factors was also constructed. CDK1, CCNB1, CDC20, and BUB1B may serve as potential biomarker of pediatric ACC and as potential targets for therapeutic approach, although experimental studies are required to authenticate our findings. PMID:27555782

  8. Narcolepsy, 2009 A(H1N1) pandemic influenza, and pandemic influenza vaccinations: what is known and unknown about the neurological disorder, the role for autoimmunity, and vaccine adjuvants.

    PubMed

    Ahmed, S Sohail; Schur, Peter H; MacDonald, Noni E; Steinman, Lawrence

    2014-05-01

    The vaccine safety surveillance system effectively detected a very rare adverse event, narcolepsy, in subjects receiving AS03-adjuvanted A(H1N1) pandemic vaccine made using the European inactivation/purification protocol. The reports of increased cases of narcolepsy in non-vaccinated subjects infected with wild A(H1N1) pandemic influenza virus suggest a role for the viral antigen(s) in disease development. However, additional investigations are needed to better understand what factor(s) in wild influenza infection trigger(s) narcolepsy in susceptible hosts. An estimated 31 million doses of European AS03-adjuvanted A(H1N1) pandemic vaccine were used in more than 47 countries. The Canadian AS03-adjuvanted A(H1N1) pandemic vaccine was used with high coverage in Canada where an estimated 12 million doses were administered. As no similar narcolepsy association has been reported to date with the AS03-adjuvanted A(H1N1) pandemic vaccine made using the Canadian inactivation/purification protocol, this suggests that the AS03 adjuvant alone may not be responsible for the narcolepsy association. To date, no narcolepsy association has been reported with the MF59®-adjuvanted A(H1N1) pandemic vaccine. This review article provides a brief background on narcolepsy, outlines the different types of vaccine preparations including the ones for influenza, reviews the accumulated evidence for the safety of adjuvants, and explores the association between autoimmune diseases and natural infections. It concludes by assimilating the historical observations and recent clinical studies to formulate a feasible hypothesis on why vaccine-associated narcolepsy may not be solely linked to the AS03 adjuvant but more likely be linked to how the specific influenza antigen component of the European AS03-adjuvanted pandemic vaccine was prepared. Careful and long-term epidemiological studies of subjects who developed narcolepsy in association with AS03-adjuvanted A(H1N1) pandemic vaccine prepared with

  9. Epilepsy Surgery for Pediatric Epilepsy: Optimal Timing of Surgical Intervention

    PubMed Central

    SUGANO, Hidenori; ARAI, Hajime

    2015-01-01

    Pediatric epilepsy has a wide variety of etiology and severity. A recent epidemiological study suggested that surgery might be indicated in as many as 5% of the pediatric epilepsy population. Now, we know that effective epilepsy surgery can result in seizure freedom and improvement of psychomotor development. Seizure control is the most effective way to improve patients neurologically and psychologically. In this review, we look over the recent evidence related to pediatric epilepsy surgery, and try to establish the optimal surgical timing for patients with intractable epilepsy. Appropriate surgical timing depends on the etiology and natural history of the epilepsy to be treated. The most common etiology of pediatric intractable epilepsy patients is malformation of cortical development (MCD) and early surgery is recommended for them. Patients operated on earlier than 12 months of age tended to improve their psychomotor development compared to those operated on later. Recent progress in neuroimaging and electrophysiological studies provide the possibility of very early diagnosis and comprehensive surgical management even at an age before 12 months. Epilepsy surgery is the only solution for patients with MCD or other congenital diseases associated with intractable epilepsy, therefore physicians should aim at an early and precise diagnosis and predicting the future damage, consider a surgical solution within an optimal timing. PMID:25925754

  10. Radiation dose reduction in pediatric abdominal CT scanning

    SciTech Connect

    Kamel, I.R.

    1993-01-01

    A clinical trial was designed to test whether a significantly lower radiation dose technique could be used for pediatric abdominal CT scanning without loss of diagnostic image quality. The study included pediatric patients referred to radiology from the Children's Hospital and clinics at The University of Michigan. Seventy-eight cases were included in the study, 36 cases in the experimental group and 42 in the control group. Patient characteristics in both groups were comparable in every respect except for the technical factors used to expose the pelvis. Patients in the experimental group were scanned with a technique using 80 mAs while those in the control group were scanned with the conventional technique of 240 mAs. Therefore, the radiation dose to the pelvis was three times higher in the control group than in the experimental group. Scans were evaluated by two experienced pediatric radiologists who assessed anatomical details, image resolution and the degree of confidence in reaching a diagnosis. The low-mAs technique did not result in reduction of diagnostic image quality or the confidence in reaching a diagnosis. In conclusion, the radiation dose resulting from pediatric CT of the pelvis may be reduced by a factor of three with equivalent medical benefit.

  11. Prevalence of otorhinolaryngologic diagnoses in the pediatric emergency room

    PubMed Central

    Signorelli, Luiz Gabriel; Mendes, Elaine de Abreu

    2013-01-01

    Summary Introduction: Fever and pain, which are very common in ear, nose, and throat pathologies, are among the most frequent complaints recorded during emergency room pediatric patient treatment. Most of time, the pediatricians are called on to evaluate otorhinolaryngology disorders that requires specialist assessment. Aim: To determine the prevalence of otorhinolaryngologic diagnoses in a pediatric population in a reference hospital in the city of Itatiba, São Paulo. Methods: We evaluated 2,054 pediatric patients (age range, 0–12 years, 11 months) in this descriptive, transversal observational (survey) study. Data collection was performed by a single observer during 103 night shifts (07:00 p.m. to 07:00 a.m.) between January and December 2011, and included documentation of the main diagnosis, and patient age and sex. The ethics committee and research institution approved study. Patients were divided into 2 groups based on diagnosis: Group A otorhinolaryngology disease and Group B included diagnoses not contained in Group A. Results: Of the total enrolled patients, 52.2% corresponded to Group A and 47.8% to Group B; 51.9% were male and 48.1% were female. The average age was 4.5 years (Group A, 3.93 years; Group B, 5.03 years). We compared the prevalence of the diagnostic hypotheses of the 2 groups. Conclusion: A large number of patients sought treatment at pediatric emergency rooms for otorhinolaryngologic diagnoses. PMID:25991987

  12. Sonography of the Pediatric Chest.

    PubMed

    Goh, Yonggeng; Kapur, Jeevesh

    2016-05-01

    Traditionally, pediatric chest diseases are evaluated with chest radiography. Due to advancements in technology, the use of sonography has broadened. It has now become an established radiation-free imaging tool that may supplement plain-film findings and, in certain cases, the first-line modality for evaluation of the pediatric chest. This pictorial essay will demonstrate the diagnostic potential of sonography, review a spectrum of pediatric chest conditions, and discuss their imaging features and clinical importance. PMID:27009313

  13. Medical Comorbidities in Pediatric Headache.

    PubMed

    Jacobs, Howard; Singhi, Samata; Gladstein, Jack

    2016-02-01

    Comorbid conditions frequently occur in pediatric headaches and may significantly affect their management. Comorbidities that have been associated with pediatric headaches include attention-deficit or hyperactivity disorder, autism, developmental disabilities, depression, anxiety, epilepsy, obesity, infantile colic, atopic disorders, inflammatory bowel disease, and irritable bowel syndrome. The goal of this article is to review these comorbidities associated with pediatric headache, thereby empowering child neurologists to identify common triggers and tailor management strategies that address headache and its comorbidities. PMID:27017024

  14. Pediatric digital chest imaging

    SciTech Connect

    Tarver, R.D.; Cohen, M.; Broderick, N.J.; Conces, D.J. Jr. )

    1990-01-01

    The Philips Computed Radiography system performs well with pediatric portable chest radiographs, handling the throughout of a busy intensive care service 24 hours a day. Images are excellent and routinely provide a conventional (unenhanced) image and an edge-enhanced image. Radiation dose is decreased by the lowered frequency of repeat examinations and the ability of the plates to respond to a much lower dose and still provide an adequate image. The high quality and uniform density of serial PCR portable radiographs greatly enhances diagnostic content of the films. Decreased resolution has not been a problem clinically. Image manipulation and electronic transfer to remote viewing stations appear to be helpful and are currently being evaluated further. The PCR system provides a marked improvement in pediatric portable chest radiology.

  15. Hippocrates on Pediatric Dermatology.

    PubMed

    Sgantzos, Markos; Tsoucalas, Gregory; Karamanou, Marianna; Giatsiou, Styliani; Tsoukalas, Ioannis; Androutsos, George

    2015-01-01

    Hippocrates of Kos is well known in medicine, but his contributions to pediatric dermatology have not previously been examined. A systematic study of Corpus Hippocraticum was undertaken to document references of clinical and historical importance of pediatric dermatology. In Corpus Hippocraticum, a variety of skin diseases are described, along with proposed treatments. Hippocrates rejected the theory of the punishment of the Greek gods and supported the concept that dermatologic diseases resulted from a loss of balance in the body humors. Many of the terms that Hippocrates and his pupils used are still being used today. Moreover, he probably provided one of the first descriptions of skin findings in smallpox, Henoch-Schönlein purpura (also known as anaphylactoid purpura, purpura rheumatica, allergic purpura), and meningococcal septicemia. PMID:26058689

  16. Acupuncture for Pediatric Pain

    PubMed Central

    Golianu, Brenda; Yeh, Ann Ming; Brooks, Meredith

    2014-01-01

    Chronic pain is a growing problem in children, with prevalence as high as 30.8%. Acupuncture has been found to be useful in many chronic pain conditions, and may be of clinical value in a multidisciplinary treatment program. The basic principles of acupuncture are reviewed, as well as studies exploring basic mechanisms of acupuncture and clinical efficacy. Conditions commonly treated in the pediatric pain clinic, including headache, abdominal pain, fibromyalgia, juvenile arthritis, complex regional pain syndrome, cancer pain, as well as perioperative pain studies are reviewed and discussed. Areas in need of further research are identified, and procedural aspects of acupuncture practice and safety studies are reviewed. Acupuncture can be an effective adjuvant in the care of pediatric patients with painful conditions, both in a chronic and an acute setting. Further studies, including randomized controlled trials, as well as trials of comparative effectiveness are needed. PMID:27417472

  17. Pediatric Biliary Interventions.

    PubMed

    Atchie, Benjamin; Kalva, Sanjeeva; Josephs, Shellie

    2015-12-01

    An interventional radiologist is frequently called to evaluate and treat biliary diseases in children; a tailored approach specific to this population is required. Imaging with an emphasis on minimizing ionizing radiation is used not only in the initial workup but also to guide interventions. The most common form of intervention generally consists of transhepatic biliary drainage to treat either biliary obstruction or bile leakage, a scenario frequently encountered after pediatric liver transplantation. Other pathologies referred for evaluation and management include biliary atresia and, rarely, symptomatic choledochal cysts. Biliary complications caused by an underlying malignancy are not a frequently encountered problem in the pediatric population. The initial evaluation, role of preprocedural imaging, and interventional management with an emphasis on technique are discussed regarding these common biliary pathologies in children. PMID:26615168

  18. Pediatric obesity. An introduction.

    PubMed

    Yanovski, Jack A

    2015-10-01

    The prevalence of child and adolescent obesity in the United States increased dramatically between 1970 and 2000, and there are few indications that the rates of childhood obesity are decreasing. Obesity is associated with myriad medical, psychological, and neurocognitive abnormalities that impact children's health and quality of life. Genotypic variation is important in determining the susceptibility of individual children to undue gains in adiposity; however, the rapid increase in pediatric obesity prevalence suggests that changes to children's environments and/or to their learned behaviors may dramatically affect body weight regulation. This paper presents an overview of the epidemiology, consequences, and etiopathogenesis of pediatric obesity, serving as a general introduction to the subsequent papers in this Special Issue that address aspects of childhood obesity and cognition in detail. PMID:25836737

  19. Pediatric parafalcine empyemas

    PubMed Central

    Niklewski, Franziska; Petridis, Athanasios K.; Al Hourani, Jasmin; Blaeser, Klaus; Ntoulias, Georgios; Bitter, Andrej; Rosenbaum, Thorsten; Scholz, Martin

    2013-01-01

    Subdural intracranial empyemas and brain abscesses are a rare complication of bacterial sinusitis. Pediatric parafalcine abscesses are a rare entity with different treatment compared with other brain abscesses. We present two pediatric cases with falcine abscess as a sinusitis complication and introduce our department’s treatment management. In addition a review of literature is performed. Surgical cases of our department and their management are compared with the current literature. In our cases, both of the children showed a recurrent empyema after the first surgical treatment and antibiotic therapy. A second surgical evacuation was necessary. The antibiotic therapy was given for 3 months. Short-time follow-up imaging is necessary irrespective of infection parameters in blood and patient's clinical condition. Especially in parafalcine abscesses a second look may be an option and surgical treatment with evacuation of pus is the treatment of choice if abscess remnants are visualized. PMID:24964473

  20. Pediatric parafalcine empyemas.

    PubMed

    Niklewski, Franziska; Petridis, Athanasios K; Al Hourani, Jasmin; Blaeser, Klaus; Ntoulias, Georgios; Bitter, Andrej; Rosenbaum, Thorsten; Scholz, Martin

    2013-01-01

    Subdural intracranial empyemas and brain abscesses are a rare complication of bacterial sinusitis. Pediatric parafalcine abscesses are a rare entity with different treatment compared with other brain abscesses. We present two pediatric cases with falcine abscess as a sinusitis complication and introduce our department's treatment management. In addition a review of literature is performed. Surgical cases of our department and their management are compared with the current literature. In our cases, both of the children showed a recurrent empyema after the first surgical treatment and antibiotic therapy. A second surgical evacuation was necessary. The antibiotic therapy was given for 3 months. Short-time follow-up imaging is necessary irrespective of infection parameters in blood and patient's clinical condition. Especially in parafalcine abscesses a second look may be an option and surgical treatment with evacuation of pus is the treatment of choice if abscess remnants are visualized. PMID:24964473

  1. Pediatric epilepsy syndromes.

    PubMed

    Wirrell, Elaine; Nickels, Katherine C

    2010-06-01

    Epilepsy syndromes denote specific constellations of clinical seizure type(s), EEG findings, and other characteristic clinical features. Most syndromes recognized in epilepsy are genetic and developmental disorders that begin in the pediatric years. Epilepsy syndromes are divided into idiopathic (primary) types, in which the presumed etiology is genetic, versus symptomatic (secondary) types, in which there is either an underlying etiology that is known or presumed based on other evidence of brain dysfunction. Epilepsies are also classified by those with generalized seizures and those with localization-related seizures. Identification of a specific syndrome is important to define the best treatment and accurately prognosticate long-term outcome for children with epilepsy. In this chapter, clinical and electrographic features as well as inheritance patterns of common pediatric epilepsy syndromes are discussed. PMID:22810315

  2. Immunotherapy for Pediatric Leukemia

    PubMed Central

    Shah, Nirali N.; Dave, Hema; Wayne, Alan S.

    2013-01-01

    Substantial progress has been made in the treatment of leukemia in childhood. Despite this, leukemia remains a leading cause of pediatric cancer-related mortality and the prognosis is guarded for individuals with relapsed or refractory disease. Standard therapies are associated with a wide array of acute and long-term toxicities and further treatment intensification may not be tolerable or beneficial. The curative potential of allogeneic stem cell transplantation is due in part to the graft-versus-leukemia effect, which provides evidence for the therapeutic capacity of immune-based therapies. In recent years there have been significant advances in the development and application of immunotherapy in the treatment of leukemias, including the demonstration of activity in chemotherapy-resistant cases. This review summarizes immunotherapeutic approaches in the treatment of pediatric leukemia including current results and future directions. PMID:23847759

  3. MR in pediatric neuroimaging

    SciTech Connect

    Wolpert, S.M. ); Barnes, P.; Strand, R. )

    1990-01-01

    The multitude of modern imaging techniques has made pediatric neuroradiology increasingly complex. The practitioner must have a thorough understanding of each possible diagnostic study in order to achieve the best results at the least expense and with minimal risk. In this book, MRI is emphasized; correlative CT, ultrasound, angiographic, and conventional x-ray studies assist in establishing effective diagnostic protocols and reaching accurate diagnoses.

  4. Modelling Pediatric Kinematics

    PubMed Central

    van Ratingen, M.R.; Wismans, J.

    1998-01-01

    In the field of pediatric biomechanics, crash dummy and numerical model development suffers from too limited human subject data to directly establish response and injury values. In order to create child crash dummies and numerical models it is necessary to combine the results from real world accident and reconstruction data, scaled adult data and data from animal testing with limited child volunteer data. This paper presents the functional and biomechanical targets for child crash dummies and numerical models.

  5. Common Pediatric Urological Disorders

    PubMed Central

    Robson, Wm. Lane M.; Leung, Alexander K.C.; Boag, Graham S.

    1991-01-01

    The clinical and radiological presentations of 12 pediatric urological disorders are described. The described disorders include pyelonephritis, vesicoureteral reflux, ureteropelvic obstruction, ureterovesical obstruction, ectopic ureterocele, posterior urethral valves, multicystic dysplastic kidney, polycystic kidney disease, ectopic kidney, staghorn calculi, urethral diverticulum, and urethral meatal stenosis. ImagesFigure 1-2Figure 3Figure 3Figure 4Figure 5Figure 6-7Figure 8-9Figure 10Figure 11-12 PMID:21229068

  6. Psittacine incubation and pediatrics.

    PubMed

    Romagnano, April

    2012-05-01

    Psittacine pediatric medicine and surgery can only continue to be practiced by avian veterinarians if psittacine aviculture (the successful captive breeding of parrot species) is active and thriving. Although beautiful, intelligent parrots are popular as beloved pets and reside in zoo and private collections around the world, private psittacine aviculture is in a transition period recovering from difficult economic times. Many of the larger aviculturists have left and the rise of the small aviculturist has significantly changed the industry. PMID:22640534

  7. Pediatric palliative care

    PubMed Central

    Benini, Franca; Spizzichino, Marco; Trapanotto, Manuela; Ferrante, Anna

    2008-01-01

    The WHO defines pediatric palliative care as the active total care of the child's body, mind and spirit, which also involves giving support to the family. Its purpose is to improve the quality of life of young patients and their families, and in the vast majority of cases the home is the best place to provide such care, but for cultural, affective, educational and organizational reasons, pediatric patients rarely benefit from such an approach. In daily practice, it is clear that pediatric patients experience all the clinical, psychological, ethical and spiritual problems that severe, irreversible disease and death entail. The international literature indicates a prevalence of incurable disease annually affecting 10/10,000 young people from 0 to 19 years old, with an annual mortality rate of 1/10,000 young people from birth to 17 years old. The needs of this category of patients, recorded in investigations conducted in various parts of the world, reveal much the same picture despite geographical, cultural, organizational and social differences, particularly as concerns their wish to be treated at home and the demand for better communications between the professionals involved in their care and a greater availability of support services. Different patient care models have been tested in Italy and abroad, two of institutional type (with children staying in hospitals for treating acute disease or in pediatric hospices) and two based at home (the so-called home-based hospitalization and integrated home-based care programs). Professional expertise, training, research and organization provide the essential foundations for coping with a situation that is all too often underestimated and neglected. PMID:19490656

  8. Introduction to pediatric oncology

    SciTech Connect

    McWhirter, W.R.; Masel, J.P.

    1987-01-01

    This book covers the varied and complex aspects of management in pediatric oncology. Emphasis is placed on a team approach and on establishing and maintaining an individualized, humanistic relationships with the patient. Numerous illustrations show modern imaging techniques that are proving most valuable in the investigation of suspected or confirmed childhood cancer. Physical and psychological side effects of short-term and long-term treatment are also discussed.

  9. [Opportunistic mycoses in pediatrics].

    PubMed

    Dupont, B

    1985-12-01

    The two most important pathologic conditions leading to mycotic opportunistic infections in children are impairment of mechanisms of defense due to immunosuppressive drugs and congenital defects of immunity. Other circumstances belong to pediatrics such as prematurity or cystic fibrosis. A few examples are chosen to illustrate these situations: congenital candidiasis, chronic mucocutaneous candidiasis, chronic dermatophytic disease, neonatal candidemia, mycotic infections in chronic granulomatous disease and aspergillosis in cystic fibrosis. PMID:3833106

  10. Acupuncture in Pediatrics.

    PubMed

    Brittner, Mindy; Le Pertel, Noemie; Gold, Melanie A

    2016-06-01

    There has been extensive research on the use of acupuncture in adults with a wide array of conditions. Much less research has been conducted on the use of acupuncture in children. In this article, we review the history and philosophy of acupuncture, and the literature on its effectiveness and safety in children and adolescents, giving special attention to the pediatric and adolescent conditions that have been most studied in high-quality randomized controlled trials (RCTs). PMID:26867822

  11. Moral Dilemmas in Pediatric Orthopedics.

    PubMed

    Mercuri, John J; Vigdorchik, Jonathan M; Otsuka, Norman Y

    2015-12-01

    All orthopedic surgeons face moral dilemmas on a regular basis; however, little has been written about the moral dilemmas that are encountered when providing orthopedic care to pediatric patients and their families. This article aims to provide surgeons with a better understanding of how bioethics and professionalism apply to the care of their pediatric patients. First, several foundational concepts of both bioethics and professionalism are summarized, and definitions are offered for 16 important terms within the disciplines. Next, some of the unique aspects of pediatric orthopedics as a subspecialty are reviewed before engaging in a discussion of 5 common moral dilemmas within the field. Those dilemmas include the following: (1) obtaining informed consent and assent for either surgery or research from pediatric patients and their families; (2) performing cosmetic surgery on pediatric patients; (3) caring for pediatric patients with cognitive or physical impairments; (4) caring for injured pediatric athletes; and (5) meeting the demand for pediatric orthopedic care in the United States. Pertinent considerations are reviewed for each of these 5 moral dilemmas, thereby better preparing surgeons for principled moral decision making in their own practices. Each of these dilemmas is inherently complex with few straightforward answers; however, orthopedic surgeons have an obligation to take the lead and better define these kinds of difficult issues within their field. The lives of pediatric patients and their families will be immeasurably improved as a result. PMID:26652336

  12. Nutrition in Pediatric Cardiomyopathy

    PubMed Central

    Miller, Tracie L.; Neri, Daniela; Extein, Jason; Somarriba, Gabriel; Strickman-Stein, Nancy

    2007-01-01

    Pediatric cardiomyopathies are heterogeneous groups of serious disorders of the heart muscle and are responsible for significant morbidity and mortality among children who have the disease. While enormous improvements have been made in the treatment and survival of children with congenital heart disease, parallel strides have not been made in the outcomes for cardiomyopathies. Thus, ancillary therapies, such as nutrition and nutritional interventions, that may not cure but may potentially improve cardiac function and quality of life, are imperative to consider in children with all types of cardiomyopathy. Growth failure is one of the most significant clinical problems of children with cardiomyopathy with nearly one-third of children with this disorder manifesting some degree of growth failure during the course of their illness. Optimal intake of macronutrients can help improve cardiac function. In addition, several specific nutrients have been shown to correct myocardial abnormalities that often occur with cardiomyopathy and heart failure. In particular, antioxidants that can protect against free radical damage that often occurs in heart failure and nutrients that augment myocardial energy production are important therapies that have been explored more in adults with cardiomyopathy than in the pediatric population. Future research directions should pay particular attention to the effect of overall nutrition and specific nutritional therapies on clinical outcomes and quality of life in children with pediatric cardiomyopathy. PMID:18159216

  13. Pediatric suprasellar lesions

    PubMed Central

    Deopujari, C. E.; Kumar, Ashish; Karmarkar, V. S.; Biyani, N. K.; Mhatre, M.; Shah, N. J.

    2011-01-01

    Pediatric brain tumors have always been challenging as well as intriguing in their anatomical, surgical, and postsurgical management-related issues. They are a heterogeneous set of pathologies involving different age groups in childhood and also differ widely from their adult counterparts as far as adjuvant therapies are concerned. Though neurosurgeons across the world are radical in surgery for most of the pediatric tumors, it can often be at the cost of future quality of life in suprasellar tumors. As the time has gone by, the pendulum has swung toward rather conservative and maximal safe surgical resections with adjuvant therapies coming to the forefront. Hence, the aim is to achieve a good quality of life for these children along with a control of tumor growth (rather than cure) and to again tackle the tumors, if required, once these children reach adolescence or adulthood. We have reviewed the literature for different pediatric suprasellar tumors and discussed their current management giving our perspective with illustrative cases. PMID:22069431

  14. Autoimmune Hemolytic Anemia and Hodgkin's Disease: An Unusual Pediatric Association

    PubMed Central

    Gomes, Maria Miguel; Oliva, Tereza; Pinto, Armando

    2016-01-01

    Autoimmune hemolytic anemia (AIHA) is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin's disease (HD) is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. Warm immune hemolytic anemia is mainly controlled with steroids and chemotherapy. We report a case of a pediatric patient with direct antiglobulin positive test at the diagnosis of a late relapse of stage III B mixed cellularity type HD. PMID:26904342

  15. The College of American Pathologists guidelines for whole slide imaging validation are feasible for pediatric pathology: a pediatric pathology practice experience.

    PubMed

    Arnold, Michael A; Chenever, Emily; Baker, Peter B; Boué, Daniel R; Fung, Bonita; Hammond, Sue; Hendrickson, Brett W; Kahwash, Samir B; Pierson, Christopher R; Prasad, Vinay; Nicol, Kathleen K; Barr, Thomas

    2015-01-01

    Whole slide imaging (WSI) is rapidly transforming educational and diagnostic pathology services. Recently, the College of American Pathologists Pathology and Laboratory Quality Center (CAP-PLQC) published recommended guidelines for validating diagnostic WSI. We prospectively evaluated the guidelines to determine their utility in validating pediatric surgical pathology and cytopathology specimens. Our validation included varied pediatric specimen types, including complex or less common diagnoses, in accordance with the guidelines. We completed WSI review of 60 surgical pathology cases and attempted WSI review of 21 cytopathology cases. For surgical pathology cases, WSI diagnoses were highly concordant with glass slide diagnoses; a discordant diagnosis was observed in 1 of 60 cases (98.3% concordance). We found that nucleated red blood cells and eosinophilic granular bodies represented specific challenges to WSI review of pediatric specimens. Cytology specimens were more frequently discordant or failed for technical reasons, with overall concordance of 66.7%. Review of pediatric cytopathology specimens will likely require image capture in multiple focal planes. This study is the first to specifically evaluate WSI review for pediatric specimens and demonstrates that specimens representing the spectrum of pediatric surgical pathology practice can be reviewed using WSI. Our application of the proposed CAP-PLQC guidelines to pediatric surgical pathology specimens is, to our knowledge, the first prospective implementation of the CAP-PLQC guidelines. PMID:25387255

  16. Trends in pediatric rehabilitation.

    PubMed

    Burkett, K W

    1989-03-01

    The 1980s have been declared the decade of the disabled. Surgeon General Koop has stated that "it is profoundly important for our own society that we tend to these issues of disabled children, that these children not be forgotten or pushed aside, and that we retain our belief in the strength of the American family". The field of pediatric rehabilitation, unheard of as recently as the late 1970s, has become a recognized specialty. The definition of pediatric rehabilitation has expanded to include the care and treatment of children with congenital and acquired disabilities. The pediatric rehabilitation nurse is challenged to keep abreast of new developments in the field while seeking and implementing innovative ways to assist the child and family in their adjustment to the child's disability. A knowledge base of normal growth and development is essential when assessing abnormal patterns in the child with a disability. Complete assessment of the child with a disability includes a parent-child interview and physical assessment, with particular focus on the child's developmental age, movement patterns, and functional activities of daily living. The reaction of the child and family to the disability is all too often viewed as lack of "acceptance" of the child's disability. A continuum of "adjustment" to the disability for both family and child describes normal coping mechanisms for living with and managing the needs of a disabled child. It is important for the pediatric rehabilitation nurse to develop a partnership with parents in which they serve as consultants to families, not as directors of the child's care. Cerebral palsy and spina bifida are the two most common childhood disabilities. With advanced technologic equipment and refined surgical procedures, the child's potential for independence is reaching new heights. Computerized technology has aided the motor-impaired child to progress through normal developmental processes of exploration and discovery. Specialized

  17. Pediatric delirium: Evaluating the gold standard

    PubMed Central

    SILVER, GABRIELLE; KEARNEY, JULIA; TRAUBE, CHANI; ATKINSON, THOMAS M.; WYKA, KATARZYNA E.; WALKUP, JOHN

    2016-01-01

    Objective Our aim was to evaluate interrater reliability for the diagnosis of pediatric delirium by child psychiatrists. Method Critically ill patients (N = 17), 0–21 years old, including 7 infants, 5 children with developmental delay, and 7 intubated children, were assessed for delirium using the Diagnostic and Statistical Manual–IV (DSM–IV) (comparable to DSM–V) criteria. Delirium assessments were completed by two psychiatrists, each blinded to the other’s diagnosis, and interrater reliability was measured using Cohen’s κ coefficient along with its 95% confidence interval. Results Interrater reliability for the psychiatric assessment was high (Cohen’s κ = 0.94, CI [0.83, 1.00]). Delirium diagnosis showed excellent interrater reliability regardless of age, developmental delay, or intubation status (Cohen’s κ range 0.81–1.00). Significance of results In our study cohort, the psychiatric interview and exam, long considered the “gold standard” in the diagnosis of delirium, was highly reliable, even in extremely young, critically ill, and developmentally delayed children. A developmental approach to diagnosing delirium in this challenging population is recommended. PMID:24762563

  18. Pediatric Nurse Practitioner Program: Theories for Extended Pediatric Nursing Practice.

    ERIC Educational Resources Information Center

    Brady, Margaret A.

    A description is provided of "Theories for Extended Pediatric Nursing Practice," a required course for pediatric and family nurse practitioner students in a California state university program. The course description presents information on the curricular placement of the course, prerequisites, in-class time allotments, and the focus of the course…

  19. Vitritis in Pediatric Genetic Retinal Disorders

    PubMed Central

    Stunkel, Maria; Bhattarai, Sajag; Kemerley, Andrew; Stone, Edwin M.; Wang, Kai; Mullins, Robert F.; Drack, Arlene V.

    2014-01-01

    Structured Abstract Purpose To determine which types of pediatric retinal degeneration are associated with inflammatory cells in the anterior vitreous (AV). Design Retrospective, observational study in humans. Methods Retrospective chart review was performed for pediatric patients with suspected retinal degeneration presenting to a single examiner from 2008–2013. Age, visual acuity (VA), slit lamp examination of AV (SLAV), clinical and molecular genetic diagnoses were documented. Anterior vitreous cells were graded clinically with SLAV from rare cells (1–4) to 1+ (5–9), 2+ (10–30), or 3+ (more than 30). Cells were also counted in magnified slit beam photographs masked to molecular diagnosis when obtainable. Main outcome measures Cell counts in SLAV, best corrected VA, molecular and clinical diagnoses. Results One hundred and five charts were evaluated, 68 of which (64.8%) included SLAV data. Numerous (1+ or greater) cells were present in 22/68 (32.4%) patients, whereas 4/68 (5.9%) had rare cells and 42/68 (61.8%) had no cells. The average age between patients with cells, no-cells, and rare cells did not differ significantly (p=0.25). VA averaged 20/124 in patients with cells, 20/143 in patients with no-cells, and 20/68 in patients with rare cells (p= 0.70). The most frequent diagnoses with cells included Bardet Biedl syndrome, Leber congenital amaurosis (LCA), and retinitis pigmentosa. The most frequent diagnoses without cells included congenital stationary night blindness, LCA, Stargardt disease, and blue cone monochromacy. Discussion A non-random subset of pediatric retinal degenerations exhibit vitritis. Cells were present in 5/5 BBS patients (a progressive degeneration) whereas cells were not detected in any of the 12 patients with CSNB (a stable dysfunction). Conclusion Studying vitritis in pediatric retinal degenerations may reveal whether inflammation accompanies progressive vision loss in certain sub-types. Potentially, inflammation could be treated

  20. Atypical location of pyogenic granuloma in two pediatric patients.

    PubMed

    de Souza, Alice Granthon; da Silva, Bruna Cunha; Israel, Monica Simoes; Lindenblatt, Rhayany; de Andrade, Ana Maria; Ramos, Maria Eliza

    2008-01-01

    Pyogenic granuloma is a reactional lesion that is associated with dental calculi or trauma. It occurs most frequently in children and young adults, where the gingiva is affected most commonly. Its differential diagnosis is based on histopathological findings and treatment consists of surgical removal and elimination of the irritating factor. This article presents two cases of pyogenic granuloma in pediatric patients and explains the treatment methods used in each case. PMID:18683402

  1. Pediatric multiple sclerosis: Perspectives from adolescents and their families.

    PubMed

    Krupp, Lauren B; Rintell, David; Charvet, Leigh E; Milazzo, Maria; Wassmer, Evangeline

    2016-08-30

    Supporting young people with pediatric multiple sclerosis can be challenging for families and health care providers. Adolescents may be more resilient than adults in reaction to the diagnosis but can have more difficulty planning for their futures. Appropriate, sensitive, and focused health provision should include consideration of the perspective of both the patient and parents. Multidisciplinary management strategies are often effective, as are referrals to programs that enhance individual and family coping and strengthen a sense of community. PMID:27572860

  2. Pediatric febrile seizures and childhood headaches in primary care.

    PubMed

    Reinhold, J; Bentti, A L

    2000-03-01

    Febrile seizures and migraine headaches in children are two of the most common neurological diagnoses seen by primary care practitioners. It is essential that a knowledge base be developed to better care for this population. This article reviews pediatric febrile seizures, including management and treatment recommendations and childhood headaches, with an emphasis on migraine headaches. Diagnosis, management, and referral criteria are also reviewed. PMID:10673570

  3. From ergolines to indoles: improved inhibitors of the human H3 receptor for the treatment of narcolepsy.

    PubMed

    Auberson, Yves P; Troxler, Thomas; Zhang, Xuechun; Yang, Charles R; Feuerbach, Dominik; Liu, Yu-Chih; Lagu, Bharat; Perrone, Mark; Lei, Lijun; Shen, Xiaoxia; Zhang, Dushan; Wang, Chunxiu; Wang, Tie-Lin; Briner, Karin; Bock, Mark G

    2015-02-01

    Ergolines were recently identified as a novel class of H3 receptor (H3R) inverse agonists. Although their optimization led to drug candidates with encouraging properties for the treatment of narcolepsy, brain penetration remained low. To overcome this issue, ergoline 1 ((6aR,9R,10aR)-4-(2-(dimethylamino)ethyl)-N-phenyl-9-(pyrrolidine-1-carbonyl)-6,6a,8,9,10,10a-hexahydroindolo[4,3-fg]quinoline-7(4H)-carboxamide)) was transformed into a series of indole derivatives with high H3R affinity. These new molecules were profiled by simultaneous determination of their brain receptor occupancy (RO) levels and pharmacodynamic (PD) effects in mice. These efforts culminated in the discovery of 15 m ((R)-1-isopropyl-5-(1-(2-(2-methylpyrrolidin-1-yl)ethyl)-1H-indol-4-yl)pyridin-2(1H)-one), which has an ideal profile showing a strong correlation of PD effects with RO, and no measurable safety liabilities. Its desirably short duration of action was confirmed by electroencephalography (EEG) measurements in rats. PMID:25394333

  4. MRI in the evaluation of pediatric multiple sclerosis.

    PubMed

    Banwell, Brenda; Arnold, Douglas L; Tillema, Jan-Mendelt; Rocca, Maria A; Filippi, Massimo; Weinstock-Guttman, Bianca; Zivadinov, Robert; Sormani, Maria Pia

    2016-08-30

    MRI plays a pivotal role in the diagnosis of multiple sclerosis (MS) in children, as it does in adults. The presence of multiple lesions in CNS locations commonly affected by MS, along with the presence of both enhancing and nonenhancing lesions, can facilitate a diagnosis of MS at the time of a first attack, whereas the accrual of serial lesions or new clinical attacks over time confirms the diagnosis in patients not meeting such criteria at onset. T2 and enhancing lesion accrual could serve as a primary outcome metric for pediatric MS clinical trials of selected therapies with anti-inflammatory activity in order to facilitate feasible trial size numbers. More-advanced MRI techniques reveal the impact of MS on tissue integrity within both T2-bright and T1-hypointense lesions and regions of normal-appearing tissue. Volumetric MRI analyses quantify the impact of MS on age-expected brain growth, and fMRI reveals activation and resting-state functional connectivity patterns in patients with pediatric MS that differ from those seen in healthy age-matched youth. Such studies are of critical importance because MS onset during childhood may profoundly influence maturing and actively myelinating neural networks. High-field MRI visualizes MS pathology at a near-microscopic level and has the potential to more fully explain mechanisms for cognitive impairment, fatigue, and disability in patients with pediatric MS. PMID:27572868

  5. Intravenous acetaminophen use in pediatrics.

    PubMed

    Shastri, Nirav

    2015-06-01

    Acetaminophen is a commonly used pediatric medication that has recently been approved for intravenous use in the United States. The purpose of this article was to review the pharmacodynamics, indications, contraindications, and precautions for the use of intravenous acetaminophen in pediatrics. PMID:26035501

  6. Group Intervention in Pediatric Rehabilitation

    ERIC Educational Resources Information Center

    LaForme Fiss, Alyssa

    2012-01-01

    Group intervention in pediatric physical and occupational therapy is an alternative to individual intervention allowing the therapist to meet the needs of multiple children at one time. Survey research indicates that approximately 40% to 60% of pediatric physical and occupational therapists use group intervention at least occasionally in practice,…

  7. Work-up of Pediatric Urinary Tract Infection.

    PubMed

    Schmidt, Bogdana; Copp, Hillary L

    2015-11-01

    Pediatric urinary tract infection (UTI) costs the health care system more than $180 million annually, and accounts for more than 1.5 million clinician visits per year. Accurate and timely diagnosis of these infections is important for determining appropriate treatment and preventing long-term complications such as renal scarring, hypertension, and end-stage renal disease. After the first 12 months, girls are more likely to be diagnosed with a UTI. About half of boys with UTI are diagnosed within the first 12 months of life. Diagnosis of UTI is made based on history and examination findings and confirmed by urine testing. PMID:26475948

  8. Controversies in Pediatric Perioperative Airways

    PubMed Central

    Klučka, Jozef; Štourač, Petr; Štoudek, Roman; Ťoukálková, Michaela; Harazim, Hana; Kosinová, Martina

    2015-01-01

    Pediatric airway management is a challenge in routine anesthesia practice. Any airway-related complication due to improper procedure can have catastrophic consequences in pediatric patients. The authors reviewed the current relevant literature using the following data bases: Google Scholar, PubMed, Medline (OVID SP), and Dynamed, and the following keywords: Airway/s, Children, Pediatric, Difficult Airways, and Controversies. From a summary of the data, we identified several controversies: difficult airway prediction, difficult airway management, cuffed versus uncuffed endotracheal tubes for securing pediatric airways, rapid sequence induction (RSI), laryngeal mask versus endotracheal tube, and extubation timing. The data show that pediatric anesthesia practice in perioperative airway management is currently lacking the strong evidence-based medicine (EBM) data that is available for adult subpopulations. A number of procedural steps in airway management are derived only from adult populations. However, the objective is the same irrespective of patient age: proper securing of the airway and oxygenation of the patient. PMID:26759809

  9. 78 FR 48438 - Pediatric Ethics Subcommittee of the Pediatric Advisory Committee; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-08

    ... HUMAN SERVICES Food and Drug Administration Pediatric Ethics Subcommittee of the Pediatric Advisory... Administration (FDA). The meeting will be open to the public. Name of Subcommittee: Pediatric Ethics Subcommittee... recommendations to the Pediatric Advisory Committee on pediatric ethical issues. Date and Time: The meeting...

  10. Pediatric ocular phthiriasis infestation.

    PubMed

    Kairys, D J; Webster, H J; Terry, J E

    1988-02-01

    Although pubic lice infestation of ocular regions is relatively uncommon, the optometrist needs to be aware of the diagnosis and treatment of louse-infested patients. A case report of ocular phthiriasis is presented along with a discussion of its etiology, clinical diagnosis and management. PMID:3361053

  11. Neuroprognostication After Pediatric Cardiac Arrest

    PubMed Central

    Kirschen, Matthew P.; Topjian, Alexis A.; Hammond, Rachel; Illes, Judy; Abend, Nicholas S.

    2014-01-01

    BACKGROUND Management decisions and parental counseling after pediatric cardiac arrest depend on the ability of physicians to make accurate and timely predictions regarding neurological recovery. We evaluated neurologists and intensivists performing neuroprognostication after cardiac arrest to determine prediction agreement, accuracy, and confidence. METHODS Pediatric neurologists (n = 10) and intensivists (n = 9) reviewed 18 cases of children successfully resuscitated from a cardiac arrest and managed in the pediatric intensive care unit. Cases were sequentially presented (after arrest day 1, days 2–4, and days 5–7), with updated examinations, neurophysiologic data, and neuroimaging data. At each time period, physicians predicted outcome by Pediatric Cerebral Performance Category and specified prediction confidence. RESULTS Predicted discharge Pediatric Cerebral Performance Category versus actual hospital discharge Pediatric Cerebral Performance Category outcomes were compared. Exact (Predicted Pediatric Cerebral Performance Category – Actual Pediatric Cerebral Performance Category = 0) and close (Predicted Pediatric Cerebral Performance Category – Actual Pediatric Cerebral Performance Category = ±1) outcome prediction accuracies for all physicians improved over successive periods (P < 0.05). Prediction accuracy did not differ significantly between physician groups at any period or overall. Agreement improved over time among neurologists (day 1 Kappa [κ], 0.28; days 2–4 κ, 0.43; days 5–7 κ, 0.68) and among intensivists (day 1 κ, 0.30; days 2–4 κ, 0.44; days 5–7 κ, 0.57). Prediction confidence increased over time (P < 0.001) and did not differ between physician groups. CONCLUSIONS Inter-rater agreement among neurologists and among intensivists improved over time and reached moderate levels. For all physicians, prediction accuracy and confidence improved over time. Further prospective research is needed to better characterize how physicians

  12. Pediatric lymphomas in Brazil

    PubMed Central

    Gualco, Gabriela; Klumb, Claudete E; Barber, Glen N; Weiss, Lawrence M; Bacchi, Carlos E

    2010-01-01

    OBJECTIVE: This study provides the clinical pathological characteristics of 1301 cases of pediatric/adolescent lymphomas in patients from different geographic regions of Brazil. METHODS: A retrospective analyses of diagnosed pediatric lymphoma cases in a 10‐year period was performed. We believe that it represents the largest series of pediatric lymphomas presented from Brazil. RESULTS: Non‐Hodgkin lymphomas represented 68% of the cases, including those of precursor (36%) and mature (64%) cell origin. Mature cell lymphomas comprised 81% of the B‐cell phenotype and 19% of the T‐cell phenotype. Hodgkin lymphomas represented 32% of all cases, including 87% of the classical type and 13% of nodular lymphocyte predominant type. The geographic distribution showed 38.4% of the cases in the Southeast region, 28.7% in the Northeast, 16.1% in the South, 8.8% in the North, and 8% in the Central‐west region. The distribution by age groups was 15–18 years old, 33%; 11–14 years old, 26%; 6–10 years old, 24%; and 6 years old or younger, 17%. Among mature B‐cell lymphomas, most of the cases were Burkitt lymphomas (65%), followed by diffuse large B‐cell lymphomas (24%). In the mature T‐cell group, anaplastic large cell lymphoma, ALK‐positive was the most prevalent (57%), followed by peripheral T‐cell lymphoma, then not otherwise specified (25%). In the group of classic Hodgkin lymphomas, the main histological subtype was nodular sclerosis (76%). Nodular lymphocyte predominance occurred more frequently than in other series. CONCLUSION: Some of the results found in this study may reflect the heterogeneous socioeconomical status and environmental factors of the Brazilian population in different regions. PMID:21340214

  13. Social pediatric emergencies.

    PubMed

    Jacobs, J

    1978-01-01

    A social pediatric emergency invokes the concept of a crisis situation, which often reflects an acute temporary state, the culmination of problems of long duration. The needs demonstrated in child abuse, neglect and deprivation, sexual abuse, the handling of the crisis of birth, pregnancy and abnormality, death and dying, adoption and learning disabilities are related to the family psychodynamic relationships and the doctor team approach. The social pediatrician can play his role as the physician, advocate, activist and educationalist in the many complex situations revealed within family, community and society. PMID:569270

  14. Pediatric Genitourinary Oncology

    PubMed Central

    Dénes, Francisco Tibor; Duarte, Ricardo Jordão; Cristófani, Lílian Maria; Lopes, Roberto Iglesias

    2013-01-01

    Tumors of the kidney, bladder, prostate, testis, and adrenal represent a large part of the adult urologic practice, but are relatively infrequent in children. The natural history and management of these tumors in the pediatric age is different from that of the adults. As result of the successful work of several clinical trial groups in recent decades, there has been a significant improvement in their cure rates. The aim of this article is to review their most significant clinical aspects, as well as to present an update in their management. PMID:24400293

  15. Epigenetics in pediatrics.

    PubMed

    Puumala, Susan E; Hoyme, H Eugene

    2015-01-01

    Epigenetic mechanisms are external modifications of DNA that cause changes in gene function and are involved in many diseases. Specific examples of pediatric diseases with a known or suspected epigenetic component include Beckwith-Wiedemann syndrome, childhood leukemia, allergies, asthma, fetal alcohol spectrum disorders, childhood obesity, and type 2 diabetes mellitus. Currently, epigenetically active treatments are being used to treat childhood leukemia. Potential epigenetically active treatments and preventive regimens are under study for other diseases. Pediatricians need to be aware of the epigenetic basis of disease to help inform clinical decision making in the future. PMID:25554107

  16. 21 CFR 601.27 - Pediatric studies.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 7 2014-04-01 2014-04-01 false Pediatric studies. 601.27 Section 601.27 Food and... LICENSING Biologics Licensing § 601.27 Pediatric studies. (a) Required assessment. Except as provided in... pediatric subpopulations, and to support dosing and administration for each pediatric subpopulation...

  17. 21 CFR 601.27 - Pediatric studies.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 7 2012-04-01 2012-04-01 false Pediatric studies. 601.27 Section 601.27 Food and... LICENSING Biologics Licensing § 601.27 Pediatric studies. (a) Required assessment. Except as provided in... pediatric subpopulations, and to support dosing and administration for each pediatric subpopulation...

  18. 21 CFR 601.27 - Pediatric studies.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 7 2013-04-01 2013-04-01 false Pediatric studies. 601.27 Section 601.27 Food and... LICENSING Biologics Licensing § 601.27 Pediatric studies. (a) Required assessment. Except as provided in... pediatric subpopulations, and to support dosing and administration for each pediatric subpopulation...

  19. Diagnosis and management of central hypersomnias

    PubMed Central

    Susta, Marek

    2012-01-01

    Central hypersomnias are diseases manifested in excessive daytime sleepiness (EDS) not caused by disturbed nocturnal sleep or misaligned circadian rhythms. Central hypersomnias includes narcolepsy with and without cataplexy, recurrent hypersomnia, idiopathic hypersomnia, with and without long sleep time, behaviorally induced insufficient sleep syndrome, hypersomnia and narcolepsy due to medical conditions, and finally hypersomnia induced by substance intake. The Epworth Sleepiness Scale is a subjective tool mostly used for EDS assessment, while the Multiple Sleep Latency Test serves as an objective diagnostic method for narcolepsy and idiopathic hypersomnias. As for symptomatic therapy of EDS, the central nervous system stimulants modafinil and methylphenidate seem to work well in most cases and in narcolepsy and Parkinson’s disease; sodium oxybate also has notable therapeutic value. PMID:22973425

  20. An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population.

    PubMed

    Miyagawa, Taku; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Fujimura, Yota; Tamura, Yoshiyuki; Omata, Naoto; Masuya, Yasuhiro; Kondo, Hideaki; Moriya, Shunpei; Furuya, Hirokazu; Kato, Mitsuhiro; Kojima, Hiroto; Kashiwase, Koichi; Saji, Hiroh; Khor, Seik-Soon; Yamasaki, Maria; Ishigooka, Jun; Wada, Yuji; Chiba, Shigeru; Yamada, Naoto; Okawa, Masako; Kuroda, Kenji; Kume, Kazuhiko; Hirata, Koichi; Uchimura, Naohisa; Shimizu, Tetsuo; Inoue, Yuichi; Honda, Yutaka; Mishima, Kazuo; Honda, Makoto; Tokunaga, Katsushi

    2015-01-01

    Narcolepsy without cataplexy (NA w/o CA) (narcolepsy type 2) is a lifelong disorder characterized by excessive daytime sleepiness and rapid eye movement (REM) sleep abnormalities, but no cataplexy. In the present study, we examined the human leukocyte antigen HLA-DQB1 in 160 Japanese patients with NA w/o CA and 1,418 control subjects. Frequencies of DQB1*06:02 were significantly higher in patients with NA w/o CA compared with controls (allele frequency: 16.6 vs. 7.8%, P=1.1×10(-7), odds ratio (OR)=2.36; carrier frequency: 31.3 vs. 14.7%, P=7.6×10(-8), OR=2.64). Distributions of HLA-DQB1 alleles other than DQB1*06:02 were compared between NA w/o CA and narcolepsy with cataplexy (NA-CA) to assess whether the genetic backgrounds of the two diseases have similarities. The distribution of the HLA-DQB1 alleles in DQB1*06:02-negative NA w/o CA was significantly different from that in NA-CA (P=5.8×10(-7)). On the other hand, the patterns of the HLA-DQB1 alleles were similar between DQB1*06:02-positive NA w/o CA and NA-CA. HLA-DQB1 analysis was also performed in 186 Japanese patients with idiopathic hypersomnia (IHS) with/without long sleep time, but no significant associations were observed. PMID:27081540