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Sample records for pediatric narcolepsy diagnosis

  1. Delayed diagnosis of narcolepsy: characterization and impact.

    PubMed

    Thorpy, Michael J; Krieger, Ana C

    2014-05-01

    Narcolepsy, a chronic neurologic condition resulting from dysregulation of the sleep-wake cycle, usually has an onset at an early age. However, a long delay until diagnosis has been consistently reported in the literature across countries and several publications have focused on characterizing this delay. Most studies report a mean delay to diagnosis of up to 15 years, with individual cases of >60 years, although a trend over time toward a shorter diagnostic delay has been suggested. While variables associated with this delay have been identified, a lack of symptom recognition resulting in misdiagnosis prior to reaching the narcolepsy diagnosis is the likely underlying reason. This lack of symptom recognition is especially relevant considering the high comorbidity burden that has been shown in patients with narcolepsy as some disorders manifest with symptoms that overlap with narcolepsy. A consequence of delayed diagnosis is delayed treatment, which affects the burden of disease. Substantial detrimental effects on health-care resource utilization, employment, and quality of life have been described after narcolepsy onset and prior to the diagnosis of narcolepsy. This review highlights the importance of closing the diagnostic gap by expanding awareness of narcolepsy and its symptoms.

  2. Circadian Rest-Activity Rhythm in Pediatric Type 1 Narcolepsy

    PubMed Central

    Filardi, Marco; Pizza, Fabio; Bruni, Oliviero; Natale, Vincenzo; Plazzi, Giuseppe

    2016-01-01

    Study Objectives: Pediatric type 1 narcolepsy is often challenging to diagnose and remains largely undiagnosed. Excessive daytime sleepiness, disrupted nocturnal sleep, and a peculiar phenotype of cataplexy are the prominent features. The knowledge available about the regulation of circadian rhythms in affected children is scarce. This study compared circadian rest-activity rhythm and actigraphic estimated sleep measures of children with type 1 narcolepsy versus healthy controls. Methods: Twenty-two drug-naïve type 1 narcolepsy children and 21 age- and sex- matched controls were monitored for seven days during the school week by actigraphy. Circadian activity rhythms were analyzed through functional linear modeling; nocturnal and diurnal sleep measures were estimated from activity using a validated algorithm. Results: Children with type 1 narcolepsy presented an altered rest-activity rhythm characterized by enhanced motor activity throughout the night and blunted activity in the first afternoon. No difference was found between children with type 1 narcolepsy and controls in the timing of the circadian phase. Actigraphic sleep measures showed good discriminant capabilities in assessing type 1 narcolepsy nycthemeral disruption. Conclusions: Actigraphy reliably renders the nycthemeral disruption typical of narcolepsy type 1 in drug-naïve children with recent disease onset, indicating the sensibility of actigraphic assessment in the diagnostic work-up of childhood narcolepsy type 1. Citation: Filardi M, Pizza F, Bruni O, Natale V, Plazzi G. Circadian rest-activity rhythm in pediatric type 1 narcolepsy. SLEEP 2016;39(6):1241–1247. PMID:27091539

  3. 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.

  4. Narcolepsy and cataplexy: a pediatric case report.

    PubMed

    Savaş, Tülin; Erol, Ilknur; Saygı, Semra; Habeşoğlu, Mehmet Ali

    2016-12-01

    Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.

  5. Narcolepsy and cataplexy: a pediatric case report

    PubMed Central

    Savaş, Tülin; Erol, ilknur; Saygı, Semra; Habeşoğlu, Mehmet Ali

    2016-01-01

    Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially. PMID:28123336

  6. 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

  7. Diagnosis and management of narcolepsy in the Indian scenario

    PubMed Central

    Sureshbabu, Sachin; Muniem, Abdul; Bhatia, Manvir

    2016-01-01

    Introduction: The diagnosis and management of narcolepsy in the Indian context needs to be revisited especially in the wake of concerns raised by sleep medicine experts that the entity could be formidably underdiagnosed, as well as undertreated in our setting. Materials and Methods: The history, clinical records, polysomnographic/multiple sleep latency test data, and treatment records of five hundred consecutive patients attending a dedicated sleep clinic between the years 2013 and 2016 were retrospectively analyzed. The response to treatment measures and improvement in daytime functioning were periodically assessed by personal/telephonic interview and E-mail communication. Results: Thirteen patients were diagnosed with narcolepsy based on the standard criteria of which three had cataplexy. The mean age of presentation was 23.23 years and the male:female ratio was 2.25:1. The mean duration from the onset of symptoms to diagnosis was 4.2 years. Two patients responded to nonpharmacological interventions alone, and six to modafinil, while two patients remained symptomatic and required treatment with methylphenidate. One patient was lost to follow-up, while two others are due for their first follow-up. Conclusion: A refurbished outlook of the diagnostic methodology and treatment paths tailored to our clinical scenario can potentially impact the future of narcolepsy management and research in our country. PMID:27994353

  8. 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

  9. 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

  10. Pediatrics: diagnosis of neuroblastoma.

    PubMed

    Sharp, Susan E; Gelfand, Michael J; Shulkin, Barry L

    2011-09-01

    Neuroblastoma is the most common pediatric extracranial soft-tissue tumor, accounting for approximately 8% of childhood malignancies. Its prognosis is widely variable, ranging from spontaneous regression to fatal disease despite multimodality therapy. Multiple imaging and clinical tests are needed to accurately assess patient risk with risk groups based on disease stage, patient age, and biological tumor factors. Approximately 60% of patients with neuroblastoma have metastatic disease, most commonly involving bone marrow or cortical bone. Metaiodobenzylguanidine (mIBG) scintigraphy plays an important role in the assessment of neuroblastoma, allowing whole-body disease assessment. mIBG is used to define extent of disease at diagnosis, assess disease response during therapy, and detect residual and recurrent disease during follow-up. mIBG is highly sensitive and specific for neuroblastoma, concentrating in >90% of tumors. mIBG was initially labeled with (131)I, but (123)I-mIBG yields higher quality images at a lower patient radiation dose. (123)I-mIBG (AdreView; GE Healthcare, Arlington Heights, IL) was approved for clinical use in children by the Food and Drug Administration in 2008 and is now commercially available throughout the United States. The use of single-photon emission computed tomography and single-photon emission computed tomography/computed tomography in (123)I-mIBG imaging has improved certainty of lesion detection and localization. Fluorodeoxyglucose positron-emission tomography has recently been compared with mIBG and found to be most useful in neuroblastomas which fail to or weakly accumulate mIBG.

  11. [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.

  12. Delayed Diagnosis, Range of Severity, and Multiple Sleep Comorbidities: A Clinical and Polysomnographic Analysis of 100 Patients of the Innsbruck Narcolepsy Cohort

    PubMed Central

    Frauscher, Birgit; Ehrmann, Laura; Mitterling, Thomas; Gabelia, David; Gschliesser, Viola; Brandauer, Elisabeth; Poewe, Werner; Högl, Birgit

    2013-01-01

    frequent comorbidity of narcolepsy with many other sleep disorders. Our study is the first to evaluate the percentage of patients with high frequency leg movements and excessive fragmentary myoclonus in narcolepsy and is the first to demonstrate EMG evidence of RBD in the MSLT. These findings add to the growing body of literature suggesting that motor instability is a key feature of narcolepsy. Citation: Frauscher B; Ehrmann L; Mitterling T; Gabelia D; Gschliesser V; Brandauer E; Poewe W; Högl B. Delayed diagnosis, range of severity, and multiple sleep comorbidities: a clinical and polysomnographic analysis of 100 patients of the Innsbruck narcolepsy cohort. J Clin Sleep Med 2013;9(8):805-812. PMID:23946711

  13. Pediatric insomnia: clinical, diagnosis, and treatment.

    PubMed

    Miano, Silvia; Peraita-Adrados, Rosa

    2014-01-01

    Pediatric insomnia is an extrinsic sleep disorder subdivided into two categories: behavioral insomnia and insomnia related to medical, neurological, and psychiatric diseases. This review will cover several types of insomnia, comorbidities and specific pediatric therapies according to clinical characteristics and age. Behavioral insomnia should be differentiated from pediatric insomnia due to medical conditions, mostly occurring during the first year of life. Multiple night awakenings and diurnal hypersomnolence are strong indicators of insomnia due to medical conditions. Insomnia during adolescence and pediatric insomnia associated with psychiatric comorbidity, cognitive disabilities and epilepsy, will be discussed in terms of diagnosis, clinical features and implications for treatment.

  14. 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

  15. Insomnia, parasomnias, and narcolepsy in children: clinical features, diagnosis, and management.

    PubMed

    Maski, Kiran; Owens, Judith A

    2016-10-01

    Sleep problems are frequently encountered as presenting complaints in child neurology clinical practice. They can affect the functioning and quality of life of children, particularly those with primary neurological and neurodevelopmental disorders, since coexisting sleep problems can add substantially to neurocognitive and behavioural comorbidities. Additionally, symptoms of some sleep disorders such as parasomnias and narcolepsy can be confused with those of other neurological disorders (eg, epilepsy), posing diagnostic challenges for paediatric neurologists. The understanding of the neurophysiology of sleep disorders such as insomnia, parasomnias, and narcolepsy is still evolving. There is a complex relation between the sleeping brain and its waking function. The interplay among genetic factors, alterations in neurotransmitters, electrophysiological changes, and environmental factors potentially contribute to the genesis of these sleep disorders.

  16. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International classification of sleep disorders, 2nd edition.

    PubMed

    Billiard, Michel

    2007-10-01

    Defining the precise nosological limits of narcolepsy and idiopathic hypersomnia is an ongoing process dating back to the first description of the two conditions. The most recent step forward has been done within the preparation of the second edition of the "International classification of sleep disorders" published in June 2005. Appointed by Dr Emmanuel Mignot, the Task Force on "Hypersomnias of central origin, not due to a circadian rhythm sleep disorder, sleep related breathing disorder, or other causes of disturbed nocturnal sleep" thoroughly revisited the nosology of narcolepsy and of idiopathic hypersomnia. Narcolepsy is now distinguished into three different entities, narcolepsy with cataplexy, narcolepsy without cataplexy and narcolepsy due to medical condition, and idiopathic hypersomnia into two entities, idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. Nevertheless there are still a number of pending issues. What are the limits of narcolepsy without cataplexy? Is there a continuum in the pathophysiology of narcolepsy with and without cataplexy? Should sporadic and familial forms of narcolepsy with cataplexy appear as subgroups in the classification? Are idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time, two forms of the same condition or two different conditions? Is there a pathophysiological relationship between narcolepsy without cataplexy and idiopathic hypersomnia without long sleep time?

  17. 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

  18. 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

  19. [Narcolepsy-cataplexy].

    PubMed

    Deflandre, E; Roelants, F; Cambron, L; Poirrier, R

    2002-08-01

    The diagnosis of narcolepsy-cataplexy is based on three axes: 1) the medical history is strongly suggestive when diurnal sleep attacks (narcolepsy) and drop attacks (cataplexy) are reported or observed; 2) the polysomnography is mandatory and shows nocturnal and diurnal (multiple sleep latency test) REM sleep onsets; 3) HLA typing, practically helps to exclude the diagnosis when HLA DR15-DQB1*0602 is not present. New pathogenetic hypotheses have been proposed, mostly based the absence of hypocretin in narcoleptic cerebrospinal fluid. This neurotransmitter was previously known exclusively by its involvement in alimentary behaviours. The new therapies remain symptomatic, but they are powerful to prevent somnolence, daytime sleepiness, cataplexy and insomnia associated with this syndrome.

  20. Diagnosis and treatment of pediatric benign pneumoperitoneum

    PubMed Central

    Duan, Shou-Xing; Sun, Zong-Bo; Wang, Guang-Huan; Zhong, Jun; Ou, Wen-Hui; Fu, Ma-Xian; Wang, Fu-Sheng; Ma, Shu-Hua; Li, Jian-Hong

    2017-01-01

    Abstract Introduction: Benign pneumoperitoneum (BPPT) is defined as asymptomatic free intraabdominal air or as pneumoperitoneum without peritonitis. Symptomatic free air requires surgical anagement, but management of asymptomatic pneumoperitoneum is controversial. In this study, we investigate the diagnosis and treatment of BPPT in children. Clinical Findings: The clinical data of 9 pediatric patients with BPPT who were admitted to our hospital from January 2000 to January 2015 were retrospectively analyzed to summarize the diagnosis and treatment. Overall, 9 cases were included with 8 males and 1 female, aged from 4 days to 4 years. Among them there were 6 newborns (including 1 premature infant). Patients were all admitted to hospital with the major clinical symptom of abdominal distension, including 2 cases accompanied by tachypnea, 2 cases with vomiting, 1 case with diarrhea, and 2 cases with fever. No previous constipation or obstructive defecation existed. Six newborns had meconium defecation within 24 hours after birth. Physical examination revealed all patients with relaxed abdominal wall except 1 patient with abdominal distension had slight muscle stiffness and hyperactive bowel sounds. Abdominal X-ray suggested free air under the diaphragm in all cases. Interventions/Outcomes: All patients except for one case of laparotomy were conservatively treated and cured with fasting, infection prevention, rehydration, abdominocentesis, and close observation. Nine cases of patients were all discharged with no death occurrence. After discharge follow-up of 7 months to 6 years was conducted. There was no recurrence of similar symptoms, and children were in good growth and development. Conclusion: The diagnosis of BPPT mainly relies on clinical symptoms in patient, careful abdominal examination, abdominal X-ray combined with abdominocentesis, and the exclusion of gastrointestinal perforation for confirmation. Conservative treatment can cure the disease. Attention

  1. 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

  2. Pediatric Traumatic Brain Injury: Characteristic Features, Diagnosis, and Management

    PubMed Central

    ARAKI, Takashi; YOKOTA, Hiroyuki; MORITA, Akio

    2017-01-01

    Traumatic brain injury (TBI) is the leading cause of death and disability in children. Pediatric TBI is associated with several distinctive characteristics that differ from adults and are attributable to age-related anatomical and physiological differences, pattern of injuries based on the physical ability of the child, and difficulty in neurological evaluation in children. Evidence suggests that children exhibit a specific pathological response to TBI with distinct accompanying neurological symptoms, and considerable efforts have been made to elucidate their pathophysiology. In addition, recent technical advances in diagnostic imaging of pediatric TBI has facilitated accurate diagnosis, appropriate treatment, prevention of complications, and helped predict long-term outcomes. Here a review of recent studies relevant to important issues in pediatric TBI is presented, and recent specific topics are also discussed. This review provides important updates on the pathophysiology, diagnosis, and age-appropriate acute management of pediatric TBI. PMID:28111406

  3. The Acute Pediatric Scrotum: Presentation, Differential Diagnosis and Management

    PubMed Central

    Vasdev, Nikhil; Chadwick, David; Thomas, David

    2012-01-01

    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

  4. 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

  5. [Pediatric ependymomas: Current diagnosis and therapy].

    PubMed

    Frappaz, Didier; Vasiljevic, Alexandre; Beuriat, Pierre-Aurelien; Alapetite, Claire; Grill, Jacques; Szathmari, Alexandru; Faure-Conter, Cécile

    2016-10-01

    Ependymomas represent 10% of pediatric brain tumors. In the recent WHO 2016 classification, pathology is enriched by localization and molecular biology. Whatever the age, total removal by one or several looks when required remains a major prognostic factor. In children, focal radiation remains a standard, while the role of chemotherapy is matter of randomized studies. In infants, front line chemotherapy is the standard. Inclusion in the SIOP ependymoma II protocol is encouraged. In case of relapse, further surgery and radiation are advised, while inclusion in innovative trials including re-irradiation, and phase I-II should be encouraged. A better understanding of underlying mechanisms of ependymoma cell will provide in the close future, the key to use targeted therapies at time of relapse, and very soon as first line therapy for some subgroups of patients.

  6. The Humanistic and Economic Burden of Narcolepsy

    PubMed Central

    Flores, Natalia M.; Villa, Kathleen F.; Black, Jed; Chervin, Ronald D.; Witt, Edward A.

    2016-01-01

    Study Objectives: To evaluate the burden of narcolepsy--with respect to psychiatric comorbidities, Health-Related Quality of Life (HRQoL), direct costs for healthcare resource utilization, and indirect costs for reported work loss–through comparison of patients to matched controls. Methods: This analysis was conducted on data from the 2011, 2012, and 2013 US National Health and Wellness Survey (NHWS; 2011 NHWS n = 75,000, 2012 NHWS n = 71,157, and 2013 NHWS n = 75,000). Patients who reported a narcolepsy diagnosis (n = 437) were matched 1:2 with controls (n = 874) on age, sex, race/ethnicity, marital status, education, household income, body mass index, smoking status, alcohol use, exercise, and physical comorbidity. Chi-square tests and one-way analyses of variance were used to assess whether the narcolepsy and control groups differed on psychiatric comorbidities, HRQoL, labor force participation, work productivity, and healthcare resource utilization. Results: Patients with narcolepsy, in comparison to matched controls, reported substantially (two to four times) greater psychiatric comorbidity, HRQoL impairment, prevalence of long-term disability, absenteeism, and presenteeism, and greater resource use in the past 6 mo as indicated by higher mean number of hospitalizations, emergency department visits, traditional healthcare professional visits, neurologist visits, and psychiatrist visits (each p < 0.05). Conclusions: These population-based data suggest that a narcolepsy diagnosis is associated with substantial adverse impact on mental health, HRQoL, and key economic burdens that include work impairment, resource use, and both direct and indirect costs. Although this study is cross-sectional, the results highlight the magnitude of the potential opportunity to improve mental health, lower costs, and augment work-related productivity through effective assessment and treatment of narcolepsy. Citation: Flores NM, Villa KF, Black J, Chervin RD, Witt EA. The

  7. Narcolepsy: new understanding of irresistible sleep.

    PubMed

    Krahn, L E; Black, J L; Silber, M H

    2001-02-01

    Recently, low levels of a newly identified neuropeptide, hypocretin 1, were described in the cerebrospinal fluid of patients with narcolepsy. This neurochemical finding furthers our understanding of this enigmatic sleep disorder typically characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic hallucinations. Narcolepsy appears to be fundamentally related to abnormally regulated rapid eye movement sleep. The diagnosis of this disorder remains challenging because of multiple other conditions that can cause daytime sleepiness and the difficulties in recognizing cataplexy based on patient report. The role of hypocretins in narcolepsy is unclear but intriguing because the cell bodies are restricted to the lateral hypothalamus, a brain region long associated with sleep regulation, with neuronal widespread projections to areas including the locus ceruleus, ventral tegmental area, amygdala, and dorsal raphe. Hypocretins potentially modulate the activity of monoamines and acetylcholine, and therefore their absence leads to the multiple symptoms of narcolepsy. This article reviews the current understanding of the diagnosis and treatment of narcolepsy and discusses the possible implications of the hypocretin discovery.

  8. Animal models of narcolepsy.

    PubMed

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

    2009-08-01

    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.

  9. Pediatric cardiac surgery with echocardiographic diagnosis alone.

    PubMed Central

    Sohn, Sejung; Kim, Hae Soon; Han, Jae Jin

    2002-01-01

    The diagnostic accuracy of echocardiography alone and the safety of cardiac surgery using this diagnostic approach were retrospectively assessed in 111 children operated for congenital heart defects (CHD) during a 3.5-yr period ending in October 2001. Preoperative diagnosis was compared with the intraoperative findings obtained by surgical inspection. Perioperative death was defined as death within 30 days postoperatively. Of the patients, 70% were operated on in infancy. Seventy-six percent (84 of 111) underwent surgery after echocardiographic diagnosis alone. A high percentage of patients with patent ductus arteriosus (100%), partial atrioventricular canal (100%), coarctation of the aorta (89%), ventricular septal defect (86%), atrial septal defect (85%), and total anomalous pulmonary venous connection (75%) was operated without prior catheterization. Diagnostic errors occurred in 2.4% (2 of 84) of patients with echocardiography only and in 7.4% of patients with catheterization. No error in either group was related to surgical morbidity or mortality. There were five (6.0%) perioperative deaths in the echocardiography group and two (7.4%) in the catheterization group, with no difference in the mortality between the groups. In conclusion, many patients with CHD can be accurately diagnosed by echocardiography alone, and can safely undergo surgery without catheterization, not increasing the overall risk. PMID:12172039

  10. Narcolepsy and disorders of excessive somnolence.

    PubMed

    Dyken, Mark E; Yamada, Thoru

    2005-06-01

    Recent studies provide valid criteria that help differentiate idiopathic narcolepsy from other disorders of excessive daytime somnolence [3]. Research to date suggests that idiopathic narcolepsy might properly be considered a disorder of excessive sleepiness with dysfunctional REM-sleep mechanisms, clinically evidenced as cataplexy and electrophysiologically recognized as SOREMPs. Given these criteria, a diagnosis can generally be made using a combination of history, PSG, and MSLT. Traditionally, the medical treatment of idiopathic narcolepsy has centered on a two-drug regimen (stimulants for sleepiness and TCAs for cataplexy and auxiliary symptoms). Some newer medications are proving efficacious for sleepiness with minimal adverse effects, whereas others may provide a single-drug regimen that simultaneously addresses sleepiness and cataplexy [18]. New research has allowed some experts to hypothesize that idiopathic narcolepsy may be the result of a genetic predisposition to autoimmune disease [176]. It is possible that aberrant genetic coding of elements in the hypocretin/orexin systems allows a sensitivity to inducible and possibly virally mediated changes, which leave cells in the lateral hypothalamus susceptible to autoimmune attack [96]. As such, genetic screening of high-risk individuals might eventually rationalize the prophylactic use of immunosuppressants in some instances. In the future, for atypical cases(poorly responsive to therapy), genetic, CSF, and brain imaging studies, and possibly even neuronal transplantation may prove beneficial in the assessment and treatment of idiopathic narcolepsy.

  11. 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

  12. 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

  13. [Narcolepsy as an autoimmune disease].

    PubMed

    Sarkanen, Tomi; Vaarala, Outi; Julkunen, Ilkka; Partinen, Markku

    2015-01-01

    Narcolepsy is a sleep disorder of central origin. Hypocretin deficiency is the essential feature of type 1 narcolepsy. The biological background of type 2 narcolepsy (without cataplexy) is less clear. Infections or other external factors are thought to function as triggers of narcolepsy. After the H1N1 vaccination campaign, the incidence of narcolepsy increased clearly in countries where a vaccine boosted with the AS03 adjuvant was used. According to the current view, the increase of narcolepsy in connection with the pandemic vaccine especially in children and adolescents was associated with the virus component of the vaccine, but the adjuvant may also have boosted the development of autoimmune response.

  14. What Is Narcolepsy?

    MedlinePlus

    ... waking up. Hypocretin (hi-po-KREET-in), a chemical in the brain, helps promote wakefulness. Most people who have narcolepsy have low levels of this chemical. What causes these low levels isn't well ...

  15. [Hypocretin system and narcolepsy].

    PubMed

    Arias-Carrión, Oscar

    2009-09-01

    Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep-onset rapid eye movement (REM) sleep periods. It is now identified as a neurodegenerative disease because there is a massive loss of specific neurons in the brain. These neurons contain the neuropeptides hypocretin-1 and hypocretin-2, which are also known as orexin-A and orexin-B. Cerebrospinal fluid hypocretin-1 measurements are diagnostic for primary narcolepsy. The cause of neural loss could be autoimmune since most patients have the HLA DQB1 0602 allele that predisposes to the disorders. The discovery of hypocretin deficiency is redefining the clinical entity of narcolepsy and offering novel diagnostic procedures. This article reviews the current understanding of narcolepsy and discusses the implications of hypocretin discovery.

  16. Narcolepsy: Fact Sheet

    MedlinePlus

    ... class schedules. What is the state of the science involving narcolepsy? During the past decade, scientists have ... not yet known if these infectious agents are direct triggers for the disease, or whether they increase ...

  17. 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.

  18. Narcolepsy: pathophysiology and pharmacology.

    PubMed

    Nishino, Seiji

    2007-01-01

    Narcolepsy, which affects 1 in 2000 people in the general population, is characterized by excessive daytime sleepiness (EDS), cataplexy, and other dissociated manifestations of rapid eye movement sleep (hypnagogic hallucinations and sleep paralysis). The disease is currently treated with amphetamine-like central nervous system stimulants (for EDS) and antidepressants (for cataplexy). Some compounds from other classes, such as modafinil (a non-amphetamine wake-promoting compound for EDS) and sodium oxybate (a short-acting sedative for EDS and cataplexy, administered at night), are also employed. The major pathophysiology of human narcolepsy has recently been revealed by the extension of discoveries of narcolepsy genes in animal models: hypocretin/orexin ligand deficiency has been shown in about 90% of human narcolepsy-cataplexy. This finding led directly to the development of new diagnostic tests (i.e., cerebrospinal fluid hypocretin measures). Hypocretin replacement is also likely to be a new therapeutic option for hypocretin-deficient narcolepsy, but is still not available in humans. In this review, the pharmacologic and pathophysiologic aspects of narcolepsy are discussed.

  19. Molecular method for the diagnosis of imported pediatric malaria.

    PubMed

    Delhaes Jeanne, L; Berry, A; Dutoit, E; Leclerc, F; Beaudou, J; Leteurtre, S; Camus, D; Benoit-Vical, F

    2010-02-01

    Malaria is a polymorphous disease; it can be life threatening especially for children. We report a case of imported malaria in a boy, illustrating the epidemiological and clinical aspects of severe pediatric malaria. In this case real-time PCR was used to quantify Plasmodium falciparum DNA levels, to monitor the evolution under treatment, and to determine genetic mutations involved in chloroquine resistance. The major epidemiological features of imported malaria, and the difficulty to diagnose childhood severe malaria are described. The contribution of molecular methods for the diagnosis of imported malaria is discussed.

  20. Specimen collection for the diagnosis of pediatric pneumonia.

    PubMed

    Hammitt, Laura L; Murdoch, David R; Scott, J Anthony G; Driscoll, Amanda; Karron, Ruth A; Levine, Orin S; O'Brien, Katherine L

    2012-04-01

    Diagnosing the etiologic agent of pneumonia has an essential role in ensuring the most appropriate and effective therapy for individual patients and is critical to guiding the development of treatment and prevention strategies. However, establishing the etiology of pneumonia remains challenging because of the relative inaccessibility of the infected tissue and the difficulty in obtaining samples without contamination by upper respiratory tract secretions. Here, we review the published and unpublished literature on various specimens available for the diagnosis of pediatric pneumonia. We discuss the advantages and limitations of each specimen, and discuss the rationale for the specimens to be collected for the Pneumonia Etiology Research for Child Health study.

  1. [Diagnosis of tuberculosis in pediatrics. Consensus document of the Spanish Society of Pediatric Infectology (SEIP) and the Spanish Society of Pediatric Pneumology (SENP)].

    PubMed

    Moreno-Pérez, D; Andrés Martín, A; Altet Gómez, N; Baquero-Artigao, F; Escribano Montaner, A; Gómez-Pastrana Durán, D; González Montero, R; Mellado Peña, M J; Rodrigo-Gonzalo-de-Liria, C; Ruiz Serrano, M J

    2010-09-01

    Tuberculosis is one of the most important health problems worldwide. There are an increased number of cases, including children, due to different reasons in developed countries. The most likely determining cause is immigration coming from high endemic areas. Measures to optimize early and appropriate diagnosis of the different forms of tuberculosis in children are a real priority. Two Societies of the Spanish Pediatric Association (Spanish Society of Pediatric Infectology and Spanish Society of Pediatric Pneumology) have agreed this Consensus Document in order to homogenize diagnostic criteria in pediatric patients.

  2. Advances in narcolepsy.

    PubMed

    Cao, Michelle

    2010-05-01

    Narcolepsy with cataplexy is a rare but life-long and challenging disorder. Current insight into the pathophysiology of this condition seems to be autoimmune-mediated postnatal cell death of hypocretin neurons occurring by organ-specific autoimmune targeting with HLA-T-cell receptor interactions. The hypocretin system seems to have an influence on multiple organ systems beyond its wake-promoting mechanisms. The recent availability of cerebrospinal fluid hypocretin-1 analysis has led to definitive diagnostic criteria for narcolepsy with cataplexy. Pharmacologic first-line treatments for excessive daytime sleepiness and cataplexy is sodium oxybate, with modafinil for daytime sleepiness, in adults and children. Other investigative agents and treatment modalities hold promise in future directions for narcolepsy.

  3. 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

  4. 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.

  5. Prevalence, Clinical Presentation, and Differential Diagnosis of Pediatric Bipolar Disorder

    PubMed Central

    Goldstein, Benjamin I.; Birmaher, Boris

    2016-01-01

    Background Over the past 20 years, the evidence regarding pediatric bipolar disorder (BP) has increased substantially. As a result, recent concerns have focused primarily on prevalence and differential diagnosis. Method Selective review of the literature. Results BP as defined by rigorously applying diagnostic criteria has been observed among children and especially adolescents in numerous countries. In contrast to increasing diagnoses in clinical settings, prevalence in epidemiologic studies has not recently changed. BP-spectrum conditions among youth are highly impairing and confer high risk for conversion to BP-I and BP-II. Compared to adults, youth with BP have more mixed symptoms, more changes in mood polarity, are more often symptomatic and seem to have worse prognosis. The course, clinical characteristics, and comorbidities of BP among children and adolescents are in many ways otherwise similar to those of adults with BP. Nonetheless, many youth with BP receive no treatment and most do not receive BP-specific treatment. Conclusion Despite increased evidence supporting the validity of pediatric BP, discrepancies between clinical and epidemiologic findings suggest that diagnostic misapplication may be common. Simultaneously, low rates of treatment of youth with BP suggest that withholding of BP diagnoses may also be common. Clinicians should apply diagnostic criteria rigorously in order to optimize diagnostic accuracy and ensure appropriate treatment. PMID:22652925

  6. Mediastinitis in pediatric cardiac surgery: Prevention, diagnosis and treatment

    PubMed Central

    Durandy, Yves

    2010-01-01

    In spite of advances in the management of mediastinitis following sternotomy, mediastinitis is still associated with significant morbidity. The prognosis is much better in pediatric surgery compared to adult surgery, but the prolonged hospital stays with intravenous therapy and frequent required dressing changes that occur with several therapeutic approaches are poorly tolerated. Prevention includes nasal decontamination, skin preparation, antibioprophylaxis and air filtration in the operating theater. The expertise of the surgical team is an additional factor that is difficult to assess precisely. Diagnosis is often very simple, being made on the basis of a septic state with wound modification, while retrosternal puncture and CT scan are rarely useful. Treatment of mediastinitis following sternotomy is always a combination of surgical debridement and antibiotic therapy. Continued use of numerous surgical techniques demonstrates that there is no consensus and the best treatment has yet to be determined. However, we suggest that a primary sternal closure is the best surgical option for pediatric patients. We propose a simple technique with high-vacuum Redon’s catheter drainage that allows early mobilization and short term antibiotherapy, which thus decreases physiological and psychological trauma for patients and families. We have demonstrated the efficiency of this technique, which is also cost-effective by decreasing intensive care and hospital stay durations, in a large group of patients. PMID:21179306

  7. UTI: diagnosis and evaluation in symptomatic pediatric patients.

    PubMed

    Heldrich, F J; Barone, M A; Spiegler, E

    2000-08-01

    We retrospectively reviewed data on 260 hospitalized pediatric patients with symptomatic urinary tract infection (UTI). To ascertain the colony-forming units (CFU)/mL compatible with the diagnosis of UTI, a culture from a catheterized urine specimen containing >1,000 CFU/mL was considered diagnostic of UTI and resulted in imaging by renal ultrasound, voiding cystourethrography, and renal nuclear scan with Tc99m dimercaptosuccinic acid (DMSA). A positive DMSA renal scan is indicative of pyelonephritis. We used logistic regression analysis to determine which patient characteristics were predictive of pyelonephritis. We determined that, in hospitalized pediatric patients, the colony count of the positive urine culture, the type of organism grown in culture, and the voiding cystourethrography (VCUG) result (positive or negative for vesicoureteral reflux) did not predict which patients had pyelonephritis. In females, advancing age of the patient and positive renal ultrasound results were predictive of which patients had pyelonephritis when we controlled for other factors. We feel this emphasizes the importance of a thorough evaluation of hospitalized symptomatic patients, including patients with colony counts of 1,000 to 50,000 CFU/mL, to locate the level of infection and plan appropriate therapy.

  8. 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

  9. Differential diagnosis and evaluation in pediatric inflammatory demyelinating disorders.

    PubMed

    Rostasy, Kevin; Bajer-Kornek, Barbara; Venkateswaran, Sunita; Hemingway, Cheryl; Tardieu, Marc

    2016-08-30

    Major advances have been made in the clinical and radiologic characterization of children presenting with the different forms of an acquired inflammatory demyelinating syndrome (ADS) such as acute disseminating encephalomyelitis, neuromyelitis optica spectrum disorders, and clinically isolated syndromes. Nevertheless, a proportion of cases that present with similar symptoms are due to a broad spectrum of other inflammatory disorders affecting the white matter, primary CNS tumors, or neurometabolic diseases. The clinician therefore has to be aware of the different forms of ADS, the risk factors for a chronic-relapsing course, and features that indicate an alternative diagnosis. The goal of this article is therefore to provide an outline of a pathway for evaluating pediatric patients with a presumed inflammatory demyelinating disorder and discussing the spectrum of the more common differential diagnoses.

  10. 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

  11. Juvenile onset narcolepsy in an individual with Turner syndrome. A case report.

    PubMed

    George, C F; Singh, S M

    1991-06-01

    We describe an 8 year old girl who presented with excessive daytime sleepiness and frequent falling. Following extensive investigations, the diagnosis of both narcolepsy and Turner Syndrome were confirmed. To our knowledge, this is the first report of these two conditions in the same individual. Both conditions are common, but the early expression of narcolepsy is unusual. Although there is a genetic basis for each, the two conditions are not necessarily related since Turner is an X-linked abnormality, while narcolepsy has an autosomal basis. Nonetheless we wonder if the hormonal balance of Turner Syndrome might have some role to play in the early expression of narcolepsy.

  12. Second malignancies in pediatric patients: imaging findings and differential diagnosis.

    PubMed

    Vázquez, Elida; Castellote, Amparo; Piqueras, Joaquim; Ortuno, Pedro; Sánchez-Toledo, José; Nogués, Pere; Lucaya, Javier

    2003-01-01

    Therapeutic advances in the treatment of pediatric neoplasms have improved the prognosis but have also increased the risk of developing rare second malignant neoplasms (SMNs). Primary neoplasms that are often associated with SMNs include lymphoma, retinoblastoma, medulloblastoma, neuroblastoma, and leukemia. The most common SMNs are central nervous system (CNS) tumors, sarcomas, thyroid and parotid gland carcinomas, and leukemia, particularly acute myeloblastic leukemia. Genetic predisposition, chemotherapy, and especially radiation therapy are implicated as pathogenic factors in SMN. All survivors of childhood cancer should have lifelong follow-up, preferably with magnetic resonance imaging, which does not require ionizing radiation and provides greater anatomic detail and resolution in the head and neck region and the CNS. A new or progressive lesion may represent recurrence of the primitive neoplastic process, late radiation injury, or, more infrequently, an SMN. Differential diagnosis can be very difficult, and outcome is often fatal. Treatment protocols should be modified to reduce the risk for SMN without compromising the effectiveness of initial therapy. Clinicians should individualize treatment for patients who are genetically predisposed to SMN. In addition, radiologists should be familiar with the long-term consequences of antineoplastic therapy to facilitate diagnosis and anticipate adverse outcomes.

  13. 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

  14. Pediatric generalized anxiety disorder: epidemiology, diagnosis, and management.

    PubMed

    Keeton, Courtney Pierce; Kolos, Amie C; Walkup, John T

    2009-01-01

    Pediatric generalized anxiety disorder (GAD) is characterized by excessive and uncontrollable worry about a variety of events and is accompanied by physical symptoms such as headaches, tension, restlessness, gastrointestinal distress, and heart palpitations. Symptoms impose marked distress and interfere with social, emotional, and educational functioning. GAD occurs in over 10% of children and adolescents, has an average age of onset of 8.5 years, and is more often reported in girls. Common co-occurring conditions include separation anxiety disorder and social phobia. Assessment involves a multi-informant, multi-method approach involving the child, parents, and school teachers. A clinical interview should be conducted to assess for the three primary ways anxiety presents: behaviors, thoughts, and somatic symptoms. Several semi-structured diagnostic interviews are available, and the Anxiety Disorders Interview Schedule is increasingly used. Rating scales completed by the patient, caregivers, and teachers provide useful information for diagnosis and symptom monitoring. Several scales are available to assess patients for the Diagnostic and Statistical Manual of Mental Disorders (4th Edition) GAD diagnosis; however, instruments generally cannot distinguish children with GAD from children with similar anxiety disorders. Both cognitive-behavioral therapy (CBT) and selective serotonin reuptake inhibitors (SSRIs) have demonstrated efficacy for the treatment of pediatric anxiety disorders including GAD. Evidence suggests that the combination of CBT plus sertraline offers additional benefit compared with either treatment alone. With pharmacotherapy, systematic tracking of treatment-emergent adverse events such as headaches, stomach aches, behavioral activation, worsening symptoms, and emerging suicidal thoughts is important. Recommended starting doses are fluvoxamine 25 mg/day, fluoxetine 10 mg/day, and sertraline 25 mg/day, though lower starting doses are possible. Dosing

  15. 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.

  16. ▼Pitolisant for narcolepsy.

    PubMed

    2017-01-01

    ▼Pitolisant (Wakix-Bioprojet Pharma) is a new treatment for adults with narcolepsy with or without cataplexy. It was licensed for use in the EU in March last year and has orphan drug status.(1) Here, we consider the evidence for pitolisant for the treatment of narcolepsy in adults and how it fits with current management strategies.

  17. 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

  18. Autonomic disturbances in narcolepsy.

    PubMed

    Plazzi, Giuseppe; Moghadam, Keivan Kaveh; Maggi, Leonardo Serra; Donadio, Vincenzo; Vetrugno, Roberto; Liguori, Rocco; Zoccoli, Giovanna; Poli, Francesca; Pizza, Fabio; Pagotto, Uberto; Ferri, Raffaele

    2011-06-01

    Narcolepsy is a clinical condition characterized mainly by excessive sleepiness and cataplexy. Hypnagogic hallucinations and sleep paralysis complete the narcoleptic tetrad; disrupted night sleep, automatic behaviors and weight gain are also usual complaints. Different studies focus on autonomic changes or dysfunctions among narcoleptic patients, such as pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache and extremities dysthermia. Even if many studies lack sufficient standardization or their results have not been replicated, a non-secondary involvement of the autonomic nervous system in narcolepsy is strongly suggested, mainly by metabolic and cardiovascular findings. Furthermore, the recent discovery of a high risk for overweight and for metabolic syndrome in narcoleptic patients represents an important warning for clinicians in order to monitor and follow them up for their autonomic functions. We review here studies on autonomic functions and clinical disturbances in narcoleptic patients, trying to shed light on the possible contribute of alterations of the hypocretin system in autonomic pathophysiology.

  19. Dual Cases of Type 1 Narcolepsy with Schizophrenia and Other Psychotic Disorders

    PubMed Central

    Canellas, Francesca; Lin, Ling; Julià, Maria Rosa; Clemente, Antonio; Vives-Bauza, Cristofol; Ollila, Hanna M.; Hong, Seung Chul; Arboleya, Susana M.; Einen, Mali A.; Faraco, Juliette; Fernandez-Vina, Marcelo; Mignot, Emmanuel

    2014-01-01

    Objective: Cases of narcolepsy in association with psychotic features have been reported but never fully characterized. These patients present diagnostic and treatment challenges and may shed new light on immune associations in schizophrenia. Method: Our case series was gathered at two narcolepsy specialty centers over a 9-year period. A questionnaire was created to improve diagnosis of schizophrenia or another psychotic disorder in patients with narcolepsy. Pathophysiological investigations included full HLA Class I and II typing, testing for known systemic and intracellular/synaptic neuronal antibodies, recently described neuronal surface antibodies, and immunocytochemistry on brain sections to detect new antigens. Results: Ten cases were identified, one with schizoaffective disorder, one with delusional disorder, two with schizophreniform disorder, and 6 with schizophrenia. In all cases, narcolepsy manifested first in childhood or adolescence, followed by psychotic symptoms after a variable interval. These patients had auditory hallucinations, which was the most differentiating clinical feature in comparison to narcolepsy patients without psychosis. Narcolepsy therapy may have played a role in triggering psychotic symptoms but these did not reverse with changes in narcolepsy medications. Response to antipsychotic treatment was variable. Pathophysiological studies did not reveal any known autoantibodies or unusual brain immunostaining pattern. No strong HLA association outside of HLA DQB1*06:02 was found, although increased DRB3*03 and DPA1*02:01 was notable. Conclusion: Narcolepsy can occur in association with schizophrenia, with significant diagnostic and therapeutic challenges. Dual cases maybe under diagnosed, as onset is unusually early, often in childhood. Narcolepsy and psychosis may share an autoimmune pathology; thus, further investigations in larger samples are warranted. Citation: Canellas F, Lin L, Julià MR, Clemente A, Vives-Bauza C, Ollila HM, Hong

  20. Significance of Serum Procalcitonin Levels in Differential Diagnosis of Pediatric Pneumonia.

    PubMed

    Zhu, Feng; Wei, Haiyan; Li, Weihua

    2015-12-01

    The objective of this study was to explore the early diagnosis methods of severe pediatric pneumonia. A total of 65 cases hospitalized in pediatric departments and ICU of our hospital because of severe pneumonia were divided into two groups according to pathogen detection. The groups were as follows: 34 cases of bacterial pneumonia, 32 cases of a non-bacterial pneumonia, and 37 cases of healthy children after physical examination in our hospital as the control group. The peripheral blood was sampled from each of the three groups for procalcitonin (PCT). The pediatric PCT level in peripheral blood of the bacterial pneumonia group was significantly higher than that of non-bacterial pneumonia group and the control group. The statistical differences (each at p < 0.01) and the level of pediatric serum PCT in the bacterial pneumonia group before treatment were statistically different from that in the same group after treatment (p < 0.01), while the level of pediatric serum PCT in non-bacterial pneumonia group before treatment was statistical indifferent from that in the same group after treatment (p > 0.01). PCT level in pediatric peripheral blood is an important diagnostic indicator of bacterial infection and a sensitive indicator of distinction between bacterial pneumonia and the non-bacterial pneumonia, thus being of great significance for clinical and differential diagnosis.

  1. 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.

  2. 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…

  3. [Narcolepsy-cataplexy today].

    PubMed

    Depierreux-Lahaye, F; Fanielle, J; Martin-Lecomte, M; Hans, G; Maquet, P; Poirrier, R

    2014-02-01

    Diagnostic criteria and pathophysiology of narcolepsy-cataplexy have evolved considerably over the last 10 years. The main cause, already mentioned in a previous paper, in the Revue Médicale de Liège (65), in 2002, is based, in human beings, on a destruction of specific cells located in the lateral and posterior part of the hypothalamus (the perifornical nuclei, containing some 70,000 neurons), producing peptides which stimulate the central nervous system; they are called hypocretins or orexins. The role of autoimmunity in their disappearance becomes more evident. The treatment is simplified, but remains symptomatic. It is mainly based on Sodium Oxybate or Gamma-Hydroxybutyrate, syrup, prescribed for the night. The authors report on their own experience in this regard and on future therapeutics more targeted towards the cause of the disease.

  4. [Implementation of the unified model of presenting cancer diagnosis in Polish pediatric onco-hematology centers].

    PubMed

    Samardakiewicz, Marzena; Kowalczyk, Jerzy R; Mazurowa, Mieczysława; Budziński, Waldemar; Antonowicz, Małgorzata; Borysławska, Anna; Szweda, Elzbieta; Groth, Anna; Pyka, Małgorzata; Figurska, Martyna; Chybicka, Alicja; Rokicka-Milewska, Roma; Matysiak, Michał; Balwierz, Walentyna; Sońta-Jakimczyk, Danuta; Balcerska, Anna; Wachowiak, Jacek

    2004-01-01

    Presentation of full information related to diagnosis of children with cancer should be one of principles in pediatric oncology. Multidisciplinary approach to each newly diagnosed child and its parents contributes to improving this standard. The Polish Pediatric Leukemia and Lymphoma Group is engaged in these activities since 1998 and it resulted in implementation of several SIOP recommendations in most of Polish pediatric oncohematology centers. The unified model of presentation of diagnosis for a child, parents and family was of an importance and the efforts to introduce it in all cooperating centers was undertaken. Proposed model of informing consists of several steps. Procedure should be individually tailored according to natural history of the disease and characteristics of the family. The purpose of the study was to evaluate the informing procedure in 60 children with newly diagnosed neoplasmatic disease.

  5. 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

  6. 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.

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

    PubMed

    Gong, Liang; Zhang, Chong-Lin; Zhen, Qing

    2016-04-01

    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.

  8. 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

  9. Etiopathogenesis and Neurobiology of Narcolepsy: A Review

    PubMed Central

    Kumar, Swarup; Sagili, Haritha

    2014-01-01

    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

  10. Antibody-mediated rejection in pediatric kidney transplantation: pathophysiology, diagnosis, and management.

    PubMed

    Ng, Yolanda W; Singh, Manpreet; Sarwal, Minnie M

    2015-04-01

    Kidney transplant is the preferred treatment of pediatric end-stage renal disease. One of the most challenging aspects of pediatric kidney transplant is the prevention and treatment of antibody-mediated rejection (ABMR), which is one of the main causes of graft dysfunction and early graft loss. Most challenges are similar to those faced in adult kidney transplants; however, factors unique to the pediatric realm include naivety of the immune system and the small number of studies and randomized controlled trials available when considering pharmacological treatment options. Here, we present a case of ABMR in a pediatric patient and a review of the pathophysiology, diagnosis, and management of ABMR. ABMR in pediatric kidney transplant continues to be a frustrating condition to treat because (1) there still remain many unidentified potential antigens leading to ABMR, (2) children and adults are at different stages of their immune system development, and, thus, (3) the full pathophysiology of alloimmunity is still not completely understood, and (4) the efficacy and safety of treatment in adults may not be directly translated to children. As we continue to gain a better understanding towards the precise alloimmune mechanism that drives a particular ABMR, we can also improve pharmacotherapeutic choices. With continued research, they will become more precise in treating a particular mechanism versus using a broad scope of immunosuppression such as steroids. However, there is much more to be uncovered, such as identifying more non-human leukocyte antigens and their role in alloimmunity, determining the exact mechanism of adults achieving complete operational tolerance, and understanding the difference between pediatric and adult transplant recipients. Making strides towards a better understanding of these mechanisms will lead to continued efficacy and safety in treatment of pediatric ABMR.

  11. The impact of spirometry on pediatric asthma diagnosis and treatment.

    PubMed

    Holt, E W; Tan, J; Hosgood, H D

    2006-09-01

    Research has shown that spirometry is underutilized in the clinical setting. This study profiles the use of spirometry in an asthma management program at an inner-city community health clinic. Eligible subjects included 56 children who presented with an acute asthma exacerbation. Physicians recorded patient diagnosis before and after viewing spirometry. Bivariate and multivariate analysis was used to determine associations between symptoms and forced expiratory volume in 1 second (FEV1). Physicians changed 30.4% of patients' treatment plans after viewing spirometry results. Wheezing was significantly associated with FEV1 in bivariate analysis; however, multivariate modeling failed to identify significant relationships. The use of spirometry influenced patient diagnosis and treatment.

  12. Pediatric sleep pharmacology.

    PubMed

    Pelayo, Rafael; Yuen, Kin

    2012-10-01

    This article reviews common sleep disorders in children and pharmacologic options for them. Discussions of pediatric sleep pharmacology typically focus on treatment of insomnia. Although insomnia is a major concern in this population, other conditions of concern in children are presented, such as narcolepsy, parasomnias, restless legs syndrome, and sleep apnea.

  13. 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.

  14. [Topical issues of food allergy diagnosis in pediatric practice].

    PubMed

    Makarova, S G; Namazova-Baranova, L S; Vishneva, E A; Gevorkyan, A K; Alekseeva, A A; Petrovskaya, M I

    2015-01-01

    Food allergy (FA) in children, especially in infancy, is still a significant public health problem. The severity and prognosis of disease progression associated with FA considerably depends on the correct and early diagnostics of this pathology, as well as on the following management of a child. At the same time delayed elimination diet administration, unreasonable or overlong dietary intervention might have become abuse management of a patient and have a negative impact on the development of a child and reduce the quality of life. The article summarizes the current practical approaches to the diagnosis of FA based on evidence-based medicine and adopted European and Russian national consensus documents, as well as on our own experience of management of patients with this pathology. FA diagnosis in a child usually includes clinical laboratory tests and clarification of clinical and anamnestic data. Unfortunately, it is a fact that preference is given to laboratory methods for diagnosis based on specific IgE determination or skin samples. However, the basis for cause-significant allergen identifying is detecting detailed medical history and clinical picture of a disease which still appears to be the most reliable tool for FA diagnosis.

  15. 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

  16. 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…

  17. 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

  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.

  19. 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

  20. The diagnosis of autism in community pediatric settings: does advanced training facilitate practice change?

    PubMed

    Swanson, Amy R; Warren, Zachary E; Stone, Wendy L; Vehorn, Alison C; Dohrmann, Elizabeth; Humberd, Quentin

    2014-07-01

    The increased prevalence of autism spectrum disorder and documented benefits of early intensive intervention have created a need for flexible systems for determining eligibility for autism-specific services. This study evaluated the effectiveness of a training program designed to enhance autism spectrum disorder identification and assessment within community pediatric settings across the state. Twenty-seven pediatric providers participated in regional trainings across a 3.5-year period. Trainings provided clinicians with strategies for conducting relatively brief within-practice interactive assessments following positive autism spectrum disorder screenings. Program evaluation was measured approximately 1.5 years following training through (a) clinician self-reports of practice change and (b) blind diagnostic verification of a subset of children assessed. Pediatric providers participating in the training reported significant changes in screening and consultation practices following training, with a reported 85% increase in diagnostic identification of children with autism spectrum disorder within their own practice setting. In addition, substantial agreement (86%-93%) was found between pediatrician diagnostic judgments and independent, comprehensive blinded diagnostic evaluations. Collaborative training methods that allow autism spectrum disorder identification within broader community pediatric settings may help translate enhanced screening initiatives into more effective and efficient diagnosis and treatment.

  1. 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.

  2. The impact of prenatal diagnosis of congenital heart disease on pediatric cardiology and cardiac surgery.

    PubMed

    Chiappa, Enrico

    2007-01-01

    Since the early 1980s prenatal diagnosis of congenital heart disease (CHD) has progressively impacted on the practice of pediatric cardiology and cardiac surgery. Fetal cardiology today raises special needs in screening programs, training of the involved staff, and allocations of services. Due to the increased detection rate and to the substantial number of terminations, the reduced incidence of CHD at birth can affect the workload of centers of pediatric cardiology and surgery. In utero transportation and competition among centers may change the area of referral in favor of the best centers. Echocardiography is a powerful means to diagnose and to guide lifesaving medical treatment of sustained tachyarrhythmias in the fetus. Prenatal diagnosis not only improves the preoperative conditions in most cases but also postoperative morbidity and mortality in selected types of CHD. Intrauterine transcatheter valvuloplasty in severe outflow obstructive lesions has been disappointing so far and this technique remains investigational, until its benefits are determined by controlled trials. Prenatal diagnosis allows counselling of families which are better prepared for the foreseeable management and outcome of the fetus. These benefits can reduce the risks of litigation for missed ultrasound diagnosis. As increased costs can be expected in institutions dealing with a large number of fetal CHD, the administrators of these institutions should receive protected funds, proportional to their needs.

  3. [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.

  4. Narcolepsy in a hypocretin/orexin-deficient chihuahua.

    PubMed

    Tonokura, M; Fujita, K; Morozumi, M; Yoshida, Y; Kanbayashi, T; Nishino, S

    2003-06-21

    A two-year-old male chihuahua suffered attacks of muscle weakness and immobility, although it had no family history of paroxysmal attacks. No neurological or blood biochemical abnormalities were recorded when it was first examined. The attacks were typically elicited by stimulation, such as feeding, and a case of sporadic narcolepsy-cataplexy was therefore suspected. Treatment orally three times a day with 1 mg/kg imipramine, was effective in reducing the attacks. The concentration of hypocretin-1/orexin A in the dog's cerebrospinal fluid was less than 80 pg/ml (22.5 pmol/litre), compared with normal canine levels of 250 to 350 pg/ml (70.0 to 98.3 pmol/litre), supporting a diagnosis of hypocretin-deficient narcolepsy.

  5. Syncope In Pediatric Patients: A Practical Approach To Differential Diagnosis And Management In The Emergency Department.

    PubMed

    Fant, Collen; Cohen, Arl

    2017-04-01

    Syncope is a condition that is often seen in the emergency department. Most syncope is benign, but it can be a symptom of a life-threatening condition. While syncope often requires an extensive workup in adults, in the pediatric population, critical questioning and simple, noninvasive testing is usually sufficient to exclude significant or life-threatening causes. For low-risk patients, resource-intensive workups are rarely diagnostic, and add significant cost to medical care. This issue will highlight critical diseases that cause syncope, identify high-risk "red flags," and enable the emergency clinician to develop a cost-effective, minimally invasive algorithm for the diagnosis and treatment of pediatric syncope.

  6. 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

  7. 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

  8. 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

  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 Central

    Rodbard, Helena W.

    2008-01-01

    Abstract and Introduction Abstract 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. Introduction The incidence of type 2 diabetes in children and adolescents has reached epidemic proportions in the United States.[1] Recent reports indicate that as many as 45% of pediatric patients diagnosed with diabetes in the United States have type 2 diabetes.[1] Furthermore, the prevalence of type 2 diabetes may be underestimated due to misclassification of the disease.[2] Prior to the late 1990s, only 1% to 2% of children diagnosed with diabetes mellitus in the United States had type 2 diabetes. Since then, owing to a

  11. Pulmonary Tuberculous: Symptoms, diagnosis and treatment. 19-year experience in a third level pediatric hospital

    PubMed Central

    2014-01-01

    Background Pulmonary tuberculosis (PTB) is an infectious disease that involves the lungs and can be lethal in many cases. Tuberculosis (TB) in children represents 5 to 20% of the total TB cases. However, there are few updated information on pediatric TB, reason why the objective of the present study is to know the real situation of PTB in the population of children in terms of its diagnosis and treatment in a third level pediatric hospital. Methods A retrospective study based on a revision of clinical files of patients less than 18 years old diagnosed with PTB from January 1994 to January 2013 at Instituto Nacional de Pediatria, Mexico City was carried out. A probable diagnosis was based on 3 or more of the following: two or more weeks of cough, fever, tuberculin purified protein derivative (PPD) +, previous TB exposure, suggestive chest X-ray, and favorable response to treatment. Definitive diagnosis was based on positive acid-fast bacilli (AFB) or culture. Results In the 19-year period of revision, 87 children were diagnosed with PTB; 57 (65.5%) had bacteriologic confirmation with ZN staining or culture positive (in fact, 22 were ZN and culture positive), and 30 (34.5%) had a probable diagnosis; 14(16.1%) were diagnosed with concomitant disease, while 69/81 were immunized. Median evolution time was 21 days (5–150). Fever was found in 94.3%, cough in 77%, and weight loss in 55.2%. History of contact with TB was established in 41.9%. Chest X-ray showed consolidation in 48.3% and mediastinal lymph node in 47.1%. PPD was positive in 59.2%, while positive AFB was found in 51.7% cases. Culture was positive in 24/79 patients (30.4%), PCR in 20/27 (74.1%). 39 (44.8%) patients were treated with rifampin, isoniazid, and pyrazinamide while 6 (6.9%) received the former drugs plus streptomycin and 42 (48.3%) the former plus ethambutol. There were three deaths. Conclusions PTB in pediatric population represents a diagnostic challenge for the fact that clinical

  12. Diagnosis and treatment of pediatric nonalcoholic steatohepatitis and the implications for bariatric surgery.

    PubMed

    Pardee, Perrie E; Lavine, Joel E; Schwimmer, Jeffrey B

    2009-08-01

    This review focuses on the diagnosis, risk factors, prevalence, pathogenesis and treatment of pediatric nonalcoholic steatohepatitis (NASH). NASH is a progressive form of nonalcoholic fatty liver disease (NAFLD), the most common cause of chronic liver disease in children. The factors that account for differences between children with NASH and children with milder forms of NAFLD are unclear. The diagnosis of NASH requires interpretation of liver histology because no noninvasive markers predict the presence or severity of NASH. There is no proven treatment for NASH. Several clinical trials for NAFLD are in progress; however, clinical trials focusing on NASH are needed. Heightened physician awareness of NAFLD, NASH, and associated risk factors is important to identify and treat affected children.

  13. Diagnosis and Treatment of Pediatric Nonalcoholic Steatohepatitis and the Implications for Bariatric Surgery

    PubMed Central

    Pardee, Perrie E.; Lavine, Joel E.; Schwimmer, Jeffrey B.

    2009-01-01

    This review focuses on the diagnosis, risk factors, prevalence, pathogenesis and treatment of pediatric nonalcoholic steatohepatitis (NASH). NASH is a progressive form of nonalcoholic fatty liver disease (NAFLD), the most common cause of chronic liver disease in children. The factors that account for differences between children with NASH versus children with milder forms of NAFLD are unclear. The diagnosis of NASH requires interpretation of liver histology because no noninvasive markers predict the presence or severity of NASH. There is no proven treatment for NASH. Several clinical trials for NAFLD are in progress, however, clinical trials focusing on NASH are needed. Heightened physician awareness of NAFLD, NASH, and associated risk factors is important to identify and treat affected children. PMID:19573756

  14. Prediction of esophageal and gastric histology by macroscopic diagnosis during upper endoscopy in pediatric celiac disease

    PubMed Central

    Boschee, Erin D; Yap, Jason Y K; Turner, Justine M

    2017-01-01

    AIM To determine the sensitivity of macroscopic appearance for predicting histological diagnosis at sites other than duodenum in pediatric celiac disease (CD). METHODS Endoscopic and histologic findings in pediatric patients undergoing upper endoscopy for first-time diagnosis of CD at Stollery Children’s Hospital from 2010-2012 were retrospectively reviewed. RESULTS Clinical charts from 140 patients were reviewed. Esophageal and gastric biopsies were taken in 54.3% and 77.9% of patients, respectively. Endoscopic appearance was normal in the esophagus and stomach in 75% and 86.2%. Endoscopic esophageal diagnoses were eosinophilic esophagitis (EE) (11.8%), esophagitis (7.9%), glycogenic acanthosis (1.3%) and non-specific abnormalities (3.9%). Endoscopic gastric diagnoses were gastritis (8.3%), pancreatic rest (0.9%), and non-specific abnormalities (4.6%). Histology was normal in 76.3% of esophageal and 87.2% of gastric specimens. Abnormal esophageal histology was EE (10.5%), esophagitis (10.5%), glycogenic acanthosis (1.3%) and non-specific (1.3%). Gastritis was reported in 12.8% of specimens. Sensitivity and specificity of normal endoscopy for predicting normal esophageal histology was 86.2% and 61.1%, and for normal gastric histology was 87.4% and 21.4%. CONCLUSION In the absence of macroscopic abnormalities, routine esophageal and gastric biopsy during endoscopy for pediatric CD does not identify major pathologies. These findings have cost and time saving implications for clinical practice. PMID:28216971

  15. 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

  16. Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin.

    PubMed

    Morgenthaler, Timothy I; Kapur, Vishesh K; Brown, Terry; Swick, Todd J; Alessi, Cathy; Aurora, R Nisha; Boehlecke, Brian; Chesson, Andrew L; Friedman, Leah; Maganti, Rama; Owens, Judith; Pancer, Jeffrey; Zak, Rochelle

    2007-12-01

    These practice parameters pertain to the treatment of hypersomnias of central origin. They serve as both an update of previous practice parameters for the therapy of narcolepsy and as the first practice parameters to address treatment of other hypersomnias of central origin. They are based on evidence analyzed in the accompanying review paper. The specific disorders addressed by these parameters are narcolepsy (with cataplexy, without cataplexy, due to medical condition and unspecified), idiopathic hypersomnia (with long sleep time and without long sleep time), recurrent hypersomnia and hypersomnia due to medical condition. Successful treatment of hypersomnia of central origin requires an accurate diagnosis, individual tailoring of therapy to produce the fullest possible return of normal function, and regular follow-up to monitor response to treatment. Modafinil, sodium oxybate, amphetamine, methamphetamine, dextroamphetamine, methylphenidate, and selegiline are effective treatments for excessive sleepiness associated with narcolepsy, while tricyclic antidepressants and fluoxetine are effective treatments for cataplexy, sleep paralysis, and hypnagogic hallucinations; but the quality of published clinical evidence supporting them varies. Scheduled naps can be beneficial to combat sleepiness in narcolepsy patients. Based on available evidence, modafinil is an effective therapy for sleepiness due to idiopathic hypersomnia, Parkinson's disease, myotonic dystrophy, and multiple sclerosis. Based on evidence and/or long history of use in the therapy of narcolepsy committee consensus was that modafinil, amphetamine, methamphetamine, dextroamphetamine, and methylphenidate are reasonable options for the therapy of hypersomnias of central origin.

  17. Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

    PubMed

    Ma, Xiaotu; Edmonson, Michael; Yergeau, Donald; Muzny, Donna M; Hampton, Oliver A; Rusch, Michael; Song, Guangchun; Easton, John; Harvey, Richard C; Wheeler, David A; Ma, Jing; Doddapaneni, HarshaVardhan; Vadodaria, Bhavin; Wu, Gang; Nagahawatte, Panduka; Carroll, William L; Chen, I-Ming; Gastier-Foster, Julie M; Relling, Mary V; Smith, Malcolm A; Devidas, Meenakshi; Guidry Auvil, Jaime M; Downing, James R; Loh, Mignon L; Willman, Cheryl L; Gerhard, Daniela S; Mullighan, Charles G; Hunger, Stephen P; Zhang, Jinghui

    2015-03-19

    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. Six pathways were frequently mutated, with NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS and IKZF1 mutations enriched at relapse. Half of the leukaemias had multiple subclonal mutations in a pathway or gene at diagnosis, but mostly with only one, usually minor clone, surviving therapy to acquire additional mutations and become the relapse founder clone. Relapse-specific mutations in NT5C2 were found in nine cases, with mutations in four cases being in descendants of the relapse founder clone. These results provide important insights into the genetic basis of treatment failure in ALL and have implications for the early detection of mutations driving relapse.

  18. Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia

    PubMed Central

    Ma, Xiaotu; Edmonson, Michael; Yergeau, Donald; Muzny, Donna M.; Hampton, Oliver A.; Rusch, Michael; Song, Guangchun; Easton, John; Harvey, Richard C.; Wheeler, David A.; Ma, Jing; Doddapaneni, HarshaVardhan; Vadodaria, Bhavin; Wu, Gang; Nagahawatte, Panduka; Carroll, William L.; Chen, I-Ming; Gastier-Foster, Julie M.; Relling, Mary V.; Smith, Malcolm A.; Devidas, Meenakshi; Auvil, Jaime M. Guidry; Downing, James R.; Loh, Mignon L.; Willman, Cheryl L.; Gerhard, Daniela S.; Mullighan, Charles G.; Hunger, Stephen P.; Zhang, Jinghui

    2015-01-01

    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. Six pathways were frequently mutated, with NT5C2, CREBBP, WHSC1, TP53, USH2A, NRAS and IKZF1 mutations enriched at relapse. Half of the leukaemias had multiple subclonal mutations in a pathway or gene at diagnosis, but mostly with only one, usually minor clone, surviving therapy to acquire additional mutations and become the relapse founder clone. Relapse-specific mutations in NT5C2 were found in nine cases, with mutations in four cases being in descendants of the relapse founder clone. These results provide important insights into the genetic basis of treatment failure in ALL and have implications for the early detection of mutations driving relapse. PMID:25790293

  19. Predictors of Hypocretin (Orexin) Deficiency in Narcolepsy Without Cataplexy

    PubMed Central

    Andlauer, Olivier; Moore, Hyatt; Hong, Seung-Chul; Dauvilliers, Yves; Kanbayashi, Takashi; Nishino, Seiji; Han, Fang; Silber, Michael H.; Rico, Tom; Einen, Mali; Kornum, Birgitte R.; Jennum, Poul; Knudsen, Stine; Nevsimalova, Sona; Poli, Francesca; Plazzi, Giuseppe; Mignot, Emmanuel

    2012-01-01

    Study Objectives: To compare clinical, electrophysiologic, and biologic data in narcolepsy without cataplexy with low (≤ 110 pg/ml), intermediate (110–200 pg/ml), and normal (> 200 pg/ml) concentrations of cerebrospinal fluid (CSF) hypocretin-1. Setting: University-based sleep clinics and laboratories. Patients: Narcolepsy without cataplexy (n = 171) and control patients (n = 170), all with available CSF hypocretin-1. Design and interventions: Retrospective comparison and receiver operating characteristics curve analysis. Patients were also recontacted to evaluate if they developed cataplexy by survival curve analysis. Measurements and Results: The optimal cutoff of CSF hypocretin-1 for narcolepsy without cataplexy diagnosis was 200 pg/ml rather than 110 pg/ml (sensitivity 33%, specificity 99%). Forty-one patients (24%), all HLA DQB1*06:02 positive, had low concentrations (≤ 110 pg/ml) of CSF hypocretin-1. Patients with low concentrations of hypocretin-1 only differed subjectively from other groups by a higher Epworth Sleepiness Scale score and more frequent sleep paralysis. Compared with patients with normal hypocretin-1 concentration (n = 117, 68%), those with low hypocretin-1 concentration had higher HLA DQB1*06:02 frequencies, were more frequently non-Caucasians (notably African Americans), with lower age of onset, and longer duration of illness. They also had more frequently short rapid-eye movement (REM) sleep latency (≤ 15 min) during polysomnography (64% versus 23%), and shorter sleep latencies (2.7 ± 0.3 versus 4.4 ± 0.2 min) and more sleep-onset REM periods (3.6 ± 0.1 versus 2.9 ± 0.1 min) during the Multiple Sleep Latency Test (MSLT). Patients with intermediate concentrations of CSF hypocretin-1 (n = 13, 8%) had intermediate HLA DQB1*06:02 and polysomnography results, suggesting heterogeneity. Of the 127 patients we were able to recontact, survival analysis showed that almost half (48%) with low concentration of CSF hypocretin-1 had developed

  20. 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

  1. 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...

  2. 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.

  3. The role of bronchoscopy in the diagnosis and management of pediatric pulmonary tuberculosis.

    PubMed

    Goussard, Pierre; Gie, Robert

    2014-02-01

    Pulmonary tuberculosis (TB) is the commonest clinical form of childhood TB occurring in approximately 80% of cases. Traditionally, bronchoscopy in pediatric TB suspects was used to collect specimens for mycobacterial culture using especially bronchoalveolar lavage. New data have described the role of bronchoscopy as a more comprehensive instrument for the diagnosis and management of pulmonary TB in children. Flexible bronchoscopy is an important intervention to evaluated airways disease, collect samples for culture, relieve critical threatening airway obstruction and aid in the management of complicated pulmonary TB disease in children. Airway involvement in children suspected of pulmonary TB has been described in 41-63% of cases. The commonest airways involved are bronchus intermedius, left main bronchus and the trachea. Bronchoscopy is safe in children with severe airway obstruction. As bronchoscope images improve, the working channel size increases new applications for bronchoscopy will be developed making them more applicable in small children.

  4. 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

  5. [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.

  6. Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

    PubMed

    Kuperberg, Maya; Lev, Dorit; Blumkin, Lubov; Zerem, Ayelet; Ginsberg, Mira; Linder, Ilan; Carmi, Nirit; Kivity, Sarah; Lerman-Sagie, Tally; Leshinsky-Silver, Esther

    2016-12-01

    Whole exome sequencing enables scanning a large number of genes for relatively low costs. The authors investigate its use for previously undiagnosed pediatric neurological patients. This retrospective cohort study performed whole exome sequencing on 57 patients of "Magen" neurogenetic clinics, with unknown diagnoses despite previous workup. The authors report on clinical features, causative genes, and treatment modifications and provide an analysis of whole exome sequencing utility per primary clinical feature. A causative gene was identified in 49.1% of patients, of which 17 had an autosomal dominant mutation, 9 autosomal recessive, and 2 X-linked. The highest rate of positive diagnosis was found for patients with developmental delay, ataxia, or suspected neuromuscular disease. Whole exome sequencing warranted a definitive change of treatment for 5 patients. Genetic databases were updated accordingly. In conclusion, whole exome sequencing is useful in obtaining a high detection rate for previously undiagnosed disorders. Use of this technique could affect diagnosis, treatment, and prognostics for both patients and relatives.

  7. Biliary complications after pediatric liver transplantation: Risk factors, diagnosis and management

    PubMed Central

    Feier, Flavia H; da Fonseca, Eduardo A; Seda-Neto, Joao; Chapchap, Paulo

    2015-01-01

    The expanded indications of partial grafts in pediatric liver transplantation have reduced waiting list mortality. However, a higher morbidity is observed, including an increased rate of biliary complications (BCs). Factors such as the type of graft, the preservation methods applied, the donor characteristics, the type of biliary reconstruction, and the number of bile ducts in the liver graft influences the occurrence of these complications. Bile leaks and strictures comprise the majority of post-transplant BCs. Biliary strictures require a high grade of suspicion, and because most children have a bileo-enteric anastomosis, its diagnosis and management rely on percutaneous hepatic cholangiography and percutaneous biliary interventions (PBI). The success rates with PBI range from 70% to 90%. Surgery is reserved for patients who have failed PBI. BCs in children after liver transplantation have a prolonged treatment and are associated with a longer length of stay and higher hospital costs. However, with early diagnosis and aggressive treatment, patient and graft survival are not significantly compromised. PMID:26328028

  8. 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. ...

  9. 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.

  10. 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

  11. History of narcolepsy at Stanford University.

    PubMed

    Mignot, Emmanuel J M

    2014-05-01

    Although narcolepsy was first described in the late nineteenth century in Germany and France, much of the research on this disorder has been conducted at Stanford University, starting with Drs. William C. Dement and Christian Guilleminault in the 1970s. The prevalence of narcolepsy was established, and a canine model discovered. Following the finding in Japan that almost all patients with narcolepsy carry a specific HLA subtype, HLA-DR2, Hugh Mac Devitt, F. Carl Grumet, and Larry Steinman initiated immunological studies, but results were generally negative. Using the narcoleptic canines, Dr. Nishino and I established that stimulants increased wakefulness by stimulating dopaminergic transmission while antidepressants suppress cataplexy via adrenergic reuptake inhibition. A linkage study was initiated with Dr. Grumet in 1988, and after 10 years of work, the canine narcolepsy gene was cloned by in 1999 and identified as the hypocretin (orexin) receptor 2. In 1992, studying African Americans, we also found that DQ0602 rather than DR2 was a better marker for narcolepsy across all ethnic groups. In 2000, Dr. Nishino and I, in collaboration with Dr. Lammers in the Netherlands, found that hypocretin 1 levels in the cerebrospinal fluid (CSF) were undetectable in most cases, establishing hypocretin deficiency as the cause of narcolepsy. Pursuing this research, our and Dr. Siegel's group, examining postmortem brains, found that the decreased CSF hypocretin 1 was secondary to the loss the 70,000 neurons producing hypocretin in the hypothalamus. This finding revived the autoimmune hypothesis but attempts at demonstrating immune targeting of hypocretin cells failed until 2013. At this date, Dr. Elisabeth Mellins and I discovered that narcolepsy is characterized by the presence of autoreactive CD4(+) T cells to hypocretin fragments when presented by DQ0602. Following reports that narcolepsy cases were triggered by vaccinations and infections against influenza A 2009 pH1N1, a new

  12. Spectral Analysis of Polysomnography in Narcolepsy

    PubMed Central

    Yun, Seok Ho; Choi, Ho Dong

    2017-01-01

    Objective This study was conducted to identify differences between people with narcolepsy and the normal control of delta and theta activity using electroencephalogram (EEG) spectrum analysis of nocturnal polysomnography (PSG). Methods Seven narcolepsy patients and seven age-sex matched normal controls underwent PSG and multiple sleep latency tests. Participants' non-rapid eye movement (NREM) sleep EEGs in PSG was analyzed using a Fast Fourier Transform technique. Results While NREM delta activity of people with narcolepsy declined during the first three periods of NREM, there was no change during the 4th period of NREM. The increase in NREM theta activity also lasted until the 3rd period of NREM but did not occur during the 4th period of NREM. In comparing sleep parameters, REM sleep latency in the narcolepsy group was significantly shorter than in controls. Conclusion These results suggest that people with narcolepsy are likely to have a delta and theta activity-related sleep disturbance mechanism in NREM sleep. PMID:28326118

  13. Narcolepsy: current treatment options and future approaches.

    PubMed

    Billiard, Michel

    2008-06-01

    The management of narcolepsy is presently at a turning point. Three main avenues are considered in this review: 1) Two tendencies characterize the conventional treatment of narcolepsy. Modafinil has replaced methylphenidate and amphetamine as the first-line treatment of excessive daytime sleepiness (EDS) and sleep attacks, based on randomized, double blind, placebo-controlled clinical trials of modafinil, but on no direct comparison of modafinil versus traditional stimulants. For cataplexy, sleep paralysis, and hypnagogic hallucinations, new antidepressants tend to replace tricyclic antidepressants and selective serotonin reuptake inhibitors (SSRIs) in spite of a lack of randomized, double blind, placebo-controlled clinical trials of these compounds; 2) The conventional treatment of narcolepsy is now challenged by sodium oxybate, the sodium salt of gammahydroxybutyrate, based on a series of randomized, double-blind, placebo-controlled clinical trials and a long-term open label study. This treatment has a fairly good efficacy and is active on all symptoms of narcolepsy. Careful titration up to an adequate level is essential both to obtain positive results and avoid adverse effects; 3) A series of new treatments are currently being tested, either in animal models or in humans, They include novel stimulant and anticataplectic drugs, endocrine therapy, and, more attractively, totally new approaches based on the present state of knowledge of the pathophysiology of narcolepsy with cataplexy, hypocretine-based therapies, and immunotherapy.

  14. Increased risk of narcolepsy in children and adults after pandemic H1N1 vaccination in France.

    PubMed

    Dauvilliers, Yves; Arnulf, Isabelle; Lecendreux, Michel; Monaca Charley, Christelle; Franco, Patricia; Drouot, Xavier; d'Ortho, Marie-Pia; Launois, Sandrine; Lignot, Séverine; Bourgin, Patrice; Nogues, Béatrice; Rey, Marc; Bayard, Sophie; Scholz, Sabine; Lavault, Sophie; Tubert-Bitter, Pascale; Saussier, Cristel; Pariente, Antoine

    2013-08-01

    An increased incidence of narcolepsy in children was detected in Scandinavian countries where pandemic H1N1 influenza ASO3-adjuvanted vaccine was used. A campaign of vaccination against pandemic H1N1 influenza was implemented in France using both ASO3-adjuvanted and non-adjuvanted vaccines. As part of a study considering all-type narcolepsy, we investigated the association between H1N1 vaccination and narcolepsy with cataplexy in children and adults compared with matched controls; and compared the phenotype of narcolepsy with cataplexy according to exposure to the H1N1 vaccination. Patients with narcolepsy-cataplexy were included from 14 expert centres in France. Date of diagnosis constituted the index date. Validation of cases was performed by independent experts using the Brighton collaboration criteria. Up to four controls were individually matched to cases according to age, gender and geographic location. A structured telephone interview was performed to collect information on medical history, past infections and vaccinations. Eighty-five cases with narcolepsy-cataplexy were included; 23 being further excluded regarding eligibility criteria. Of the 62 eligible cases, 59 (64% males, 57.6% children) could be matched with 135 control subjects. H1N1 vaccination was associated with narcolepsy-cataplexy with an odds ratio of 6.5 (2.1-19.9) in subjects aged<18 years, and 4.7 (1.6-13.9) in those aged 18 and over. Sensitivity analyses considering date of referral for diagnosis or the date of onset of symptoms as the index date gave similar results, as did analyses focusing only on exposure to ASO3-adjuvanted vaccine. Slight differences were found when comparing cases with narcolepsy-cataplexy exposed to H1N1 vaccination (n=32; mostly AS03-adjuvanted vaccine, n=28) to non-exposed cases (n=30), including shorter delay of diagnosis and a higher number of sleep onset rapid eye movement periods for exposed cases. No difference was found regarding history of infections. In

  15. 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

  16. 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.

  17. Successful treatment of post-traumatic narcolepsy with methylphenidate: a case report.

    PubMed

    Francisco, G E; Ivanhoe, C B

    1996-01-01

    Narcolepsy is a rare sequela of brain injury. We report the case of a 27-yr-old male with post-traumatic narcolepsy who was successfully treated with methylphenidate. This patient sustained moderate brain injury from a motorcycle accident. Subsequently, he manifested the classic tetrad of narcolepsy: cataplexy, excessive daytime sleepiness, sleep paralysis, and hypnogogic hallucinations. There was no premorbid seizure or sleep disorder. There was no family history of sleep disorders. Polysomnography and Multiple Sleep Latency Test confirmed the diagnosis of narcolepsy. Sleep latency (time to sleep onset), rapid eye movement sleep latency (time from sleep onset to rapid eye movement sleep onset), and mean multiple sleep latency were all pathologically shortened (2.5, 66, and 1.2 min, respectively). Twenty-four hour electroencephalographic monitoring and magnetic resonance imaging of the brain were normal, as were serum chemistries. Treatment with caffeine was unsuccessful. He was then started on methylphenidate, 10 mg twice daily, which was increased to 30 mg twice daily over a 4-mo period. Cataplexy and excessive daytime sleepiness started to improve 1 mo after adjustments in methylphenidate dosing. Six months after the initiation of methylphenidate therapy, the patient is completely asymptomatic.

  18. Diagnosis of Pediatric Hyperthyroidism: Technetium 99 Uptake Versus Thyroid Stimulating Immunoglobulins

    PubMed Central

    Misra, Madhusmita; Levitsky, Lynne L.

    2015-01-01

    Background: Treatment with antithyroid drugs is effective in conditions of increased thyroid hormone production (mostly Graves' Disease; GD), but not in subacute thyroiditis (SAT) or autoimmune thyroiditis (AIT). Positive thyroid stimulating immunoglobulins (TSI) make GD likely. However, not all children with GD have increased TSI. Uptake studies with 123I or 99Tc (99mTc) provide accurate and rapid diagnosis but are expensive and involve radiation exposure. Our objective was to compare TSI with 99mTc uptake for diagnosis of pediatric hyperthyroidism. Methods: We performed a retrospective chart review of hyperthyroid children who had both TSI estimation and 99mTc uptake assessment at presentation. Based on subsequent laboratory studies and follow-up, 37 had GD and 10 had non-GD thyroiditis. The TSI index was considered positive (TSI+) when it was above the upper limit of normal. 99mTc uptake was considered positive (Tc+) for any uptake >0.4% and negative (and low) (Tc-) for uptake ≤0.4%. Results: Forty-seven youth (83% females), aged 12.3±4.6 years, presented with a suppressed thyrotropin (TSH) and elevated free thyroxine and total triiodothyronine. All 37 patients with GD were Tc+ (100% sensitivity and specificity). The sensitivity of TSI for diagnosing GD was 84%, and the specificity was 100%. Six patients with GD were discordant with Tc+ but TSI–. Elevated TSI correlated with Tc+ (p=0.01) with a degree of agreement (kappa) of 0.69. Conclusion: 99mTc has excellent specificity and sensitivity in diagnosing GD. Given additional costs of 99mTc (two and a half times as much as TSI), it is reasonable to reserve 99mTc uptake assessment for hyperthyroidism of unclear etiology and negative TSI. PMID:25257665

  19. Risk analysis, diagnosis and management of gastrointestinal mucositis in pediatric cancer patients.

    PubMed

    Kuiken, Nicoline S S; Rings, Edmond H H M; Tissing, Wim J E

    2015-04-01

    Mucositis is a complex inflammatory reaction of the mucous membranes of the alimentary tract upon chemotherapy and radiotherapy treatment in oncology patients. Mucositis can be subdivided in oral and gastrointestinal mucositis (GI mucositis). The damage to the gastrointestinal tract compromises the intestinal function and thereby the nutritional status and the quality of life, and eventually affects survival. The literature on GI mucositis focuses mainly on adults. This review focuses on data available on GI mucositis in pediatric cancer patients. An evaluation of the clinical presentation and consequences of GI mucositis in children is outlined. The review summarizes key issues for clinicians with respect to risk analysis for developing mucositis and the diagnosis of this condition in children. Information on these issues is obtained from clinical trials in children and adults, and from animal models. Diagnostic tools and assessment of severity of GI mucositis in children is elaborated on. Furthermore, the clinical management of the symptoms and consequences of GI mucositis in children, with specific focus on nutritional support, are discussed.

  20. Sleep Transitions in Hypocretin-Deficient Narcolepsy

    PubMed Central

    Sorensen, Gertrud Laura; Knudsen, Stine; Jennum, Poul

    2013-01-01

    Study Objectives: Narcolepsy is characterized by instability of sleep-wake, tonus, and rapid eye movement (REM) sleep regulation. It is associated with severe hypothalamic hypocretin deficiency, especially in patients with cataplexy (loss of tonus). As the hypocretin neurons coordinate and stabilize the brain's sleep-wake pattern, tonus, and REM flip-flop neuronal centers in animal models, we set out to determine whether hypocretin deficiency and/or cataplexy predicts the unstable sleep-wake and REM sleep pattern of the human phenotype. Design: We measured the frequency of transitions in patients with narcolepsy between sleep-wake states and to/from REM and NREM sleep stages. Patients were subdivided by the presence of +/- cataplexy and +/- hypocretin-1 deficiency. Setting: Sleep laboratory studies conducted from 2001-2011. Patients: In total 63 narcolepsy patients were included in the study. Cataplexy was present in 43 of 63 patients and hypocretin-1 deficiency was present in 37 of 57 patients. Measurements and Results: Hypocretin-deficient patients with narcolepsy had a significantly higher frequency of sleep-wake transitions (P = 0.014) and of transitions to/from REM sleep (P = 0.044) than patients with normal levels of hypocretin-1. Patients with cataplexy had a significantly higher frequency of sleep-wake transitions (P = 0.002) than those without cataplexy. A multivariate analysis showed that transitions to/from REM sleep were predicted mainly by hypocretin-1 deficiency (P = 0.011), whereas sleep-wake transitions were predicted mainly by cataplexy (P = 0.001). Conclusions: In human narcolepsy, hypocretin deficiency and cataplexy are both associated with signs of destabilized sleep-wake and REM sleep control, indicating that the disorder may serve as a human model for the sleep-wake and REM sleep flip-flop switches. Citation: Sorensen GL; Knudsen S; Jennum P. Sleep transitions in hypocretin-deficient narcolepsy. SLEEP 2013;36(8):1173-1177. PMID:23904677

  1. Narcolepsy with Cataplexy Mimicry: The Strange Case of Two Sisters

    PubMed Central

    Pizza, Fabio; Vandi, Stefano; Poli, Francesca; Moghadam, Keivan Kaveh; Franceschini, Christian; Bellucci, Claudia; Cipolli, Carlo; Ingravallo, Francesca; Natalini, Giuliana; Mignot, Emmanuel; Plazzi, Giuseppe

    2013-01-01

    We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyo-graphic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases. Citation: Pizza F; Vandi S; Poli F; Moghadam KK; Fran-ceschini C; Bellucci C; Cipolli C; Ingravallo F; Natalini G; Mignot E; Plazzi G. Narcolepsy with cataplexy mimicry: the strange case of two sisters. J Clin Sleep Med 2013;9(6):611-612. PMID:23772196

  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.

  4. 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.

  5. 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.

  6. Reduced amygdala activity during aversive conditioning in human narcolepsy.

    PubMed

    Ponz, Aurélie; Khatami, Ramin; Poryazova, Rositsa; Werth, Esther; Boesiger, Peter; Schwartz, Sophie; Bassetti, Claudio L

    2010-03-01

    Narcolepsy with cataplexy is a sleep-wake disorder caused by a loss of hypothalamic hypocretins. Here we assessed the time course of amygdala activation during aversive conditioning in unmedicated patients with narcolepsy. Unlike healthy matched control subjects, narcolepsy patients had no enhancement of amygdala response to conditioned stimuli and no increase in functional coupling between the amygdala and medial prefrontal cortex. These findings suggest that human narcolepsy is accompanied by abnormal emotional learning, and that, in line with animal data, the hypocretin system and the amygdala are involved in this process.

  7. 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.

  8. Dysautonomia in Narcolepsy: Evidence by Questionnaire Assessment

    PubMed Central

    Klein, Gilles; Vaillant, Michel; Pieri, Vannina; Fink, Gereon R.; Diederich, Nico

    2014-01-01

    Background and Purpose Excessive daytime sleepiness and sudden sleep attacks are the main features of narcolepsy, but rapid-eye-movement sleep behavior disorder (RBD), hyposmia, and depression can also occur. The latter symptoms are nonmotor features in idiopathic Parkinson's disease (IPD). In the present study, IPD-proven diagnostic tools were tested to determine whether they are also applicable in the assessment of narcolepsy. Methods This was a case-control study comparing 15 patients with narcolepsy (PN) and 15 control subjects (CS) using the Scales for Outcomes in Parkinson's Autonomic Test (SCOPA-AUT), Parkinson's Disease Nonmotor Symptoms (PDNMS), University of Pennsylvania Smell Test, Farnsworth-Munsell 100 Hue test, Beck Depression Inventory, and the RBD screening questionnaire. Results Both the PN and CS exhibited mild hyposmia and no deficits in visual tests. Frequent dysautonomia in all domains except sexuality was found for the PN. The total SCOPA-AUT score was higher for the PN (18.47±10.08, mean±SD) than for the CS (4.40±3.09), as was the PDNMS score (10.53±4.78 and 1.80±2.31, respectively). RBD was present in 87% of the PN and 0% of the CS. The PN were more depressed than the CS. The differences between the PN and CS for all of these variables were statistically significant (all p<0.05). Conclusions The results of this study provide evidence for the presence of dysautonomia and confirm the comorbidities of depression and RBD in narcolepsy patients. The spectrum, which is comparable to the nonmotor complex in IPD, suggests wide-ranging, clinically detectable dysfunction beyond the narcoleptic core syndrome. PMID:25324880

  9. Narcolepsy and pregnancy: a retrospective European evaluation of 249 pregnancies.

    PubMed

    Maurovich-Horvat, Eszter; Kemlink, David; Högl, Birgit; Frauscher, Birgit; Ehrmann, Laura; Geisler, Peter; Ettenhuber, Katharina; Mayer, Geert; Peraita-Adrados, Rosa; Calvo, Elena; Lammers, Gert Jan; Van der Heide, Astrid; Ferini-Strambi, Luigi; Plazzi, Giuseppe; Poli, Francesca; Dauvilliers, Yves; Jennum, Poul; Leonthin, Helle; Mathis, Johannes; Wierzbicka, Aleksandra; Puertas, Francisco J; Beitinger, Pierre A; Arnulf, Isabelle; Riha, Renata L; Tormášiová, Maria; Slonková, Jana; Nevšímalová, Sona; Sonka, Karel

    2013-10-01

    In a retrospective cohort study undertaken in 12 European countries, 249 female narcoleptic patients with cataplexy (n = 216) and without cataplexy (n = 33) completed a self-administrated questionnaire regarding pregnancy and childbirth. The cohort was divided further into patients whose symptoms of narcolepsy started before or during pregnancy (308 pregnancies) and those in whom the first symptoms of narcolepsy appeared after delivery (106 pregnancies). Patients with narcolepsy during pregnancy were older during their first pregnancy (P < 0.001) and had a higher body mass index (BMI) prior to pregnancy (P < 0.01). Weight gain during pregnancy was higher in narcoleptic patients with cataplexy (P < 0.01). More patients with narcolepsy-cataplexy during pregnancy had impaired glucose metabolism and anaemia. Three patients experienced cataplexy during delivery. The rate of caesarean sections was higher in the narcolepsy-cataplexy group compared to the narcolepsy group (P < 0.05). The mean birth weight and gestational age of neonates were within the normal range and did not differ across groups. Neonatal care was affected adversely by symptoms of narcolepsy in 60.1% of those with narcolepsy during pregnancy. This study reports more obstetric complications in patients with narcolepsy-cataplexy during pregnancy; however, these were not severe. This group also had a higher BMI and higher incidence of impaired glucose metabolism during pregnancy. Caesarian section was conducted more frequently in narcolepsy-cataplexy patients, despite cataplexy being a rare event during delivery. Furthermore, symptoms of narcolepsy may render care of the infant more difficult.

  10. A rare case of splenic pseudoaneurysm in pediatric splenic blunt trauma patient: Review of diagnosis and management

    PubMed Central

    Zhu, Roger Chen; Kurbatov, Vadim; Leung, Patricia; Sugiyama, Gainosuke; Roudnitsky, Valery

    2015-01-01

    Introduction Splenic pseudoaneurysms (SPA) are a rare but serious sequela of blunt traumatic injury to the spleen. Management of adult blunt splenic trauma is well-studied, however, in children, the management is much less well-defined. Presentation of case A 15 year-old male presented with severe abdominal pain of acute onset after sustaining injury to his left side while playing football. FAST was positive for free fluid in the abdomen. Initial abdomen CT demonstrated a grade III/IV left splenic laceration with moderate to large hemoperitoneum with no active extravasation or injury to the splenic vessels noted. A follow-up CT angiography of the abdomen demonstrated a splenic hypervascular structure suspicious for a small pseudoaneurysm. Splenic arteriogram which demonstrated multiple pseudoaneurysms arising from the second order splenic artery branches which was angioembolized and treated. Discussion & conclusion Questions still remain regarding the timing of repeat imaging for diagnosis of SPA following non-operative blunt splenic trauma, which patients should be imaged, and how to manage SPA upon diagnosis. More clinical study and basic science research is warranted to study the disease process of SPA in pediatric patient. We believe that our proposed management algorithm timely detect formation of delayed SPA formation and addresses the possible fatal disease course of pediatric SPA. PMID:26117449

  11. Autosomal dominant cerebellar ataxia deafness and narcolepsy.

    PubMed

    Melberg, A; Hetta, J; Dahl, N; Nennesmo, I; Bengtsson, M; Wibom, R; Grant, C; Gustavson, K H; Lundberg, P O

    1995-12-01

    A new autosomal dominant syndrome in a Swedish pedigree is described. Five patients were affected with cerebellar ataxia and sensorineural deafness. Four of these patients had symptoms of narcolepsy. Optic atrophy, other neurological abnormalities and psychiatric symptoms developed with increasing disease duration. Three patients had non-neurological disease in addition, including diabetes mellitus in two and hypertrophic cardiomyopathy in one. Autopsy with neuropathological examination was performed in one case. Molecular studies focused on the short arm of chromosome 6, including the HLA DR2 locus associated with narcolepsy and the (CAG)n repeat at the spinocerebellar ataxia type 1 (SCA1) locus. Biochemical investigation of muscle biopsy of one case indicated mitochondrial dysfunction with selective decrease in ATP production for substrates that normally give the highest rates. The activity of glutamate dehydrogenase was reduced, indicating a low mitochondrial density. We postulate an autosomal dominant genetic factor responsible for this syndrome. Linkage was excluded to HLA DR2, and a normal sized SCA1 repeat was observed. We conclude that a locus predisposing to ataxia, deafness and narcolepsy exists outside this region of chromosome 6.

  12. [Pediatric bipolar disorder - case report of a bipolar patient with disease onset in childhood and adolescence: implications for diagnosis and therapy].

    PubMed

    Lackner, N; Birner, A; Bengesser, S A; Reininghaus, B; Kapfhammer, H P; Reininghaus, E

    2014-11-01

    In recent years, intense controversies have evolved about the existence and exact diagnostic criteria of pediatric bipolar affective disorder. The present study aims to discuss pediatric bipolar affective disorder based on the current literature focussing on the diagnostic prospects. Based on a case study, a process of bipolar disorder developed in childhood is depicted exemplarily. Because of the high comorbidity and overlapping symptoms of paediatric bipolar affective disorder and other psychiatric disorders, the major impact of the differential diagnosis has to be stressed. An early diagnosis and the treatment possibilities are discussed.

  13. Challenges in the development of therapeutics for narcolepsy.

    PubMed

    Black, Sarah Wurts; Yamanaka, Akihiro; Kilduff, Thomas S

    2015-12-23

    Narcolepsy is a neurological disorder that afflicts 1 in 2000 individuals and is characterized by excessive daytime sleepiness and cataplexy-a sudden loss of muscle tone triggered by positive emotions. Features of narcolepsy include dysregulation of arousal state boundaries as well as autonomic and metabolic disturbances. Disruption of neurotransmission through the hypocretin/orexin (Hcrt) system, usually by degeneration of the HCRT-producing neurons in the posterior hypothalamus, results in narcolepsy. The cause of Hcrt neurodegeneration is unknown but thought to be related to autoimmune processes. Current treatments for narcolepsy are symptomatic, including wake-promoting therapeutics that increase presynaptic dopamine release and anticataplectic agents that activate monoaminergic neurotransmission. Sodium oxybate is the only medication approved by the US Food and Drug Administration that alleviates both sleep/wake disturbances and cataplexy. Development of therapeutics for narcolepsy has been challenged by historical misunderstanding of the disease, its many disparate symptoms and, until recently, its unknown etiology. Animal models have been essential to elucidating the neuropathology underlying narcolepsy. These models have also aided understanding the neurobiology of the Hcrt system, mechanisms of cataplexy, and the pharmacology of narcolepsy medications. Transgenic rodent models will be critical in the development of novel therapeutics for the treatment of narcolepsy, particularly efforts directed to overcome challenges in the development of hypocretin replacement therapy.

  14. Evidence for cognitive resource imbalance in adolescents with narcolepsy.

    PubMed

    Witt, Suzanne T; Drissi, Natasha Morales; Tapper, Sofie; Wretman, Anna; Szakács, Attila; Hallböök, Tove; Landtblom, Anne-Marie; Karlsson, Thomas; Lundberg, Peter; Engström, Maria

    2017-03-20

    The study investigated brain activity changes during performance of a verbal working memory task in a population of adolescents with narcolepsy. Seventeen narcolepsy patients and twenty healthy controls performed a verbal working memory task during simultaneous fMRI and EEG acquisition. All subjects also underwent MRS to measure GABA and Glutamate concentrations in the medial prefrontal cortex. Activation levels in the default mode network and left middle frontal gyrus were examined to investigate whether narcolepsy is characterized by an imbalance in cognitive resources. Significantly increased deactivation within the default mode network during task performance was observed for the narcolepsy patients for both the encoding and recognition phases of the task. No evidence for task performance deficits or reduced activation within the left middle frontal gyrus was noted for the narcolepsy patients. Correlation analyses between the spectroscopy and fMRI data indicated that deactivation of the anterior aspect of the default mode in narcolepsy patients correlated more with increased concentrations of Glutamate and decreased concentrations of GABA. In contrast, deactivation in the default mode was correlated with increased concentrations of GABA and decreased concentrations of Glutamate in controls. The results suggested that narcolepsy is not characterized by a deficit in working memory but rather an imbalance of cognitive resources in favor of monitoring and maintaining attention over actual task performance. This points towards dysregulation within the sustained attention system being the origin behind self-reported cognitive difficulties in narcolepsy.

  15. 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.

  16. EIF3G is associated with narcolepsy across ethnicities

    PubMed Central

    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

    2015-01-01

    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

  17. 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

  18. The neurobiology of hypocretins (orexins), narcolepsy and related therapeutic interventions.

    PubMed

    Zeitzer, Jamie M; Nishino, Seiji; Mignot, Emmanuel

    2006-07-01

    Narcolepsy is characterized by excessive daytime sleepiness, cataplexy and other manifestations of dissociated rapid eye movement sleep. Narcolepsy is typically treated with amphetamine-like stimulants (sleepiness) and antidepressants (cataplexy). Newer compounds, such as modafinil (non-amphetamine wake-promoting compound for excessive daytime sleepiness) and sodium oxybate (short-acting sedative for fragmented nighttime sleep, cataplexy, excessive daytime sleepiness), are increasingly used. Recent discoveries indicate that the major pathophysiology of human narcolepsy is the loss of lateral hypothalamic neurons that produce the neuropeptide hypocretin (orexin). Approximately 90% of people diagnosed as having narcolepsy with cataplexy are hypocretin ligand deficient. This has led to the development of new diagnostic tests (cerebrospinal fluid hypocretin-1 measurements). Hypocretin receptor agonists are likely to be ideal therapeutic options for hypocretin-deficient narcolepsy but such compounds are still not available in humans.

  19. The neurochemistry of awakening: findings from sleep disorder narcolepsy.

    PubMed

    Nishino, Seiji; Sagawa, Yohei

    2010-01-01

    Recent progress in our understanding of the pathophysiology of excessive sleepiness (EDS) is particularly indebted to the 1999 discovery of narcolepsy genes (i.e., hypocretin receptor and peptide genes) in animals and the subsequent discovery of hypocretin ligand deficiency in idiopathic cases of human narcolepsy-cataplexy. Hypocretin deficiency is also involved in many cases of symptomatic narcolepsy and EDS. Changes in other neurotransmitter systems (such as monoamines and acetylcholine) previously reported in these conditions are likely to be secondary to the impaired hypocretin neurotransmission; however, these may also mediate the sleep abnormalities seen in hypocretin deficient narcolepsy. The pathophysiology of hypocretin non-deficient narcolepsy is debated. Similarly, the pathophysiology of idiopathic hypersomnia, another defined primary hypersomnia, is largely unknown. This chapter discusses our current understanding of the neurochemistry of EDS, a disease of awakening.

  20. Facial expression recognition and emotional regulation in narcolepsy with cataplexy.

    PubMed

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

    2013-04-01

    Cataplexy is pathognomonic of narcolepsy with cataplexy, and defined by a transient loss of muscle tone triggered by strong emotions. Recent researches suggest abnormal amygdala function in narcolepsy with cataplexy. Emotion treatment and emotional regulation strategies are complex functions involving cortical and limbic structures, like the amygdala. As the amygdala has been shown to play a role in facial emotion recognition, we tested the hypothesis that patients with narcolepsy with cataplexy would have impaired recognition of facial emotional expressions compared with patients affected with central hypersomnia without cataplexy and healthy controls. We also aimed to determine whether cataplexy modulates emotional regulation strategies. Emotional intensity, arousal and valence ratings on Ekman faces displaying happiness, surprise, fear, anger, disgust, sadness and neutral expressions of 21 drug-free patients with narcolepsy with cataplexy were compared with 23 drug-free sex-, age- and intellectual level-matched adult patients with hypersomnia without cataplexy and 21 healthy controls. All participants underwent polysomnography recording and multiple sleep latency tests, and completed depression, anxiety and emotional regulation questionnaires. Performance of patients with narcolepsy with cataplexy did not differ from patients with hypersomnia without cataplexy or healthy controls on both intensity rating of each emotion on its prototypical label and mean ratings for valence and arousal. Moreover, patients with narcolepsy with cataplexy did not use different emotional regulation strategies. The level of depressive and anxious symptoms in narcolepsy with cataplexy did not differ from the other groups. Our results demonstrate that narcolepsy with cataplexy accurately perceives and discriminates facial emotions, and regulates emotions normally. The absence of alteration of perceived affective valence remains a major clinical interest in narcolepsy with cataplexy

  1. Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome.

    PubMed

    Lagman-Bartolome, Ana Marissa; Lay, Christine

    2015-06-01

    Pediatric migraine variants, previously known as childhood periodic syndromes, migraine equivalents, or migraine precursors, are a group of periodic or paroxysmal disorders occurring in patients who also have migraine with or without aura, or who have an increased likelihood of developing migraine. They have common key clinical features including periodic or paroxysmal character, normal neurological examination between attacks, family history of migraine, and clinical evolution to classic types of migraine. This article aims to review the pathophysiology, evaluation, and management of the pediatric migraine variants including abdominal migraine, benign paroxysmal vertigo, cyclic vomiting syndrome, and benign paroxysmal torticollis as well as the episodic syndromes that may lead to migraine, infantile colic, alternating hemiplegia of childhood, and vestibular migraine.

  2. 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.

  3. Diagnosis versus dialogue: oral testimony and the study of pediatric pain.

    PubMed

    Nutkiewicz, Michael

    2008-01-01

    Through the perspectives of the children, this essay examines the communication between pediatric pain patients and their doctors. Based upon the oral history responses of thirty-two patients with chronic pain present for evaluation at the Pediatric Pain Clinic at UCLA, oral testimony was employed to uncover a wide range of topics related to a child's experience with pain such as family dynamics, how and when pain became a life-changing factor, coping strategies, and external sources that contribute to the child's understanding of pain. Most important, children were encouraged to explain what it was like to be in pain, not only to describe symptoms but also to share their dreams and hopes, their fears and uncertainties -- as well as the place of pain in their world.

  4. At the bottom of the differential diagnosis list: unusual causes of pediatric hypertension.

    PubMed

    Grinsell, Matthew M; Norwood, Victoria F

    2009-11-01

    Hypertension affects 1-5% of children and adolescents, and the incidence has been increasing in association with obesity. However, secondary causes of hypertension such as renal parenchymal diseases, congenital abnormalities and renovascular disorders still remain the leading cause of pediatric hypertension, particularly in children under 12 years old. Other less common causes of hypertension in children and adolescents, including immobilization, burns, illicit and prescription drugs, dietary supplements, genetic disorders, and tumors will be addressed in this review.

  5. Toxic-Metabolic Risk Factors in Pediatric Pancreatitis: Recommendations for Diagnosis, Management and Future Research

    PubMed Central

    Husain, Sohail Z.; Morinville, Veronique; Pohl, John; Abu-El-Haija, Maisam; Bellin, Melena D.; Freedman, Steve; Hegyi, Peter; Heyman, Melvin B; Himes, Ryan; Ooi, Chee Y.; Schwarzenberg, Sarah Jane; Usatin, Danielle; Uc, Aliye

    2016-01-01

    Objectives Pancreatitis in children can result from metabolic and toxic risk factors, but the evidence linking these factors is sparse. We review the evidence for association or causality of these risk factors in pancreatitis, discuss management strategies and their rationale. Methods We conducted a review of the pediatric pancreatitis literature with respect to the following risk factors: (a) hyperlipidemia, (b) hypercalcemia, (c) chronic renal failure, (d) smoking exposure, (e) alcohol, and (f) medications. Areas of additional research were identified. Results Hypertriglyceridemia of 1000 mg/dl or greater poses an absolute risk for pancreatitis; persistent elevations of calcium are predisposing. Further research is necessary to determine whether end stage renal disease leads to increased pancreatitis in children similar to adults. It is unknown whether cigarette smoking exposure, which clearly increases risk in adults, also increases risk in children. The role of alcohol in pediatric pancreatitis, whether direct or modifying, needs to be elucidated. The evidence supporting most cases of medication-induced pancreatitis is poor. Drug structure, improper handling of drug by host, and by-stander status may be implicated. Other pancreatitis risk factors must be sought in all cases. Conclusions The quality of evidence supporting causative role of various toxic and metabolic factors in pediatric pancreatitis is variable. Careful phenotyping is essential, including search for other etiologic risk factors. Directed therapy includes correction/ removal of any agent identified, and general supportive measures. Further research is necessary to improve our understanding of these pancreatitis risk factors in children. PMID:26594832

  6. 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

  7. Cerebral salt wasting syndrome following brain injury in three pediatric patients: suggestions for rapid diagnosis and therapy.

    PubMed

    Berkenbosch, John W; Lentz, Christopher W; Jimenez, David F; Tobias, Joseph D

    2002-02-01

    The association between hyponatremia and intracranial pathology has been well described. When accompanied by natriuresis, hyponatremia has most commonly been attributed to inappropriate secretion of antidiuretic hormone. However, there is growing evidence to suggest that many of these patients may actually have cerebral mediated salt losses, a disorder referred to as the cerebral salt wasting syndrome (CSWS). While this syndrome has been reasonably well described in adults, data regarding CSWS in pediatric-aged patients remains sparse. Since fluid management of these disorders is different, it is important that the clinician be able to rapidly differentiate between them. We report three cases of CSWS in acutely brain-injured children and comment on the role that early quantitation of urine volume and urine sodium concentration had in rapidly establishing the correct diagnosis.

  8. Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

    PubMed

    Barone, Angelica; Lucarelli, Annunziata; Onofrillo, Daniela; Verzegnassi, Federico; Bonanomi, Sonia; Cesaro, Simone; Fioredda, Francesca; Iori, Anna Paola; Ladogana, Saverio; Locasciulli, Anna; Longoni, Daniela; Lanciotti, Marina; Macaluso, Alessandra; Mandaglio, Rosalba; Marra, Nicoletta; Martire, Baldo; Maruzzi, Matteo; Menna, Giuseppe; Notarangelo, Lucia Dora; Palazzi, Giovanni; Pillon, Marta; Ramenghi, Ugo; Russo, Giovanna; Svahn, Johanna; Timeus, Fabio; Tucci, Fabio; Cugno, Chiara; Zecca, Marco; Farruggia, Piero; Dufour, Carlo; Saracco, Paola

    2015-06-01

    Acquired aplastic anemia (AA) is a rare heterogeneous disease characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2-3/million inhabitants/year, in Europe, but higher in East Asia. Survival in severe aplastic anemia (SAA) has markedly improved in the past 2 decades because of advances in hematopoietic stem cell transplantation, immunosuppressive and biologic drugs, and supportive care. In SAA hematopoietic stem cell transplant (HSCT) from a matched sibling donor (MSD) is the treatment of choice. If a MSD is not available, the options include immunosuppressive therapy (IST) or unrelated donor HSCT. The objective of this guideline is to provide healthcare professionals with clear guidance on the diagnosis and management of pediatric patients with AA. A preliminary, evidence-based document issued by a group of pediatric hematologists was discussed, modified and approved during a series of "Consensus Conferences" according to procedures previously validated by the AIEOP Board. The guidelines highlight the importance of referring pediatric patients with AA to pediatric centers with long experience in diagnosis, differential diagnosis, management, supportive care and follow-up of AA.

  9. Hypocretin/orexin, sleep and narcolepsy.

    PubMed

    Hungs, M; Mignot, E

    2001-05-01

    The discovery that hypocretins are involved in narcolepsy, a disorder associated with excessive daytime sleepiness, cataplexy and unusually rapid transitions to rapid-eye-movement sleep, opens a new field of investigation in the area of sleep control physiology. Hypocretin-1 and -2 (also called orexin-A and -B) are newly discovered neuropeptides processed from a common precursor, preprohypocretin. Hypocretin-containing cells are located exclusively in the lateral hypothalamus, with widespread projections to the entire neuroaxis. Two known receptors, Hcrtr1 and Hcrtr2, have been reported. The functional significance of the hypocretin system is rapidly emerging in both animals and humans. Hypocretin abnormalities cause narcolepsy in dogs, human and mice. The role of the hypocretin system in normal sleep regulation is more uncertain. We believe hypocretin cells drive cholinergic and monoaminergic activity across the sleep cycle. Input from the suprachiasmatic nucleus to hypocretin-containing neurons may explain the occurrence of clock-dependent alertness. Other functions are suggested by pharmacological and neurochemical experiments. These include regulation of food intake, neuroendocrine function, autonomic nervous system activity and energy balance.

  10. Clinical effectiveness in the diagnosis and acute management of pediatric nephrolithiasis.

    PubMed

    Van Batavia, Jason P; Tasian, Gregory E

    2016-12-01

    The incidence of pediatric nephrolithiasis has risen over the past few decades leading to a growing public health burden. Children and adolescents represent a unique patient population secondary to their higher risks from radiation exposure as compared to adults, high risk of recurrence, and longer follow up time given their longer life expectancies. Ultrasound imaging is the first-line modality for diagnosing suspected nephrolithiasis in children. Although data is limited, the best evidence based medicine supports the use of alpha-blockers as first-line MET in children, especially when stones are small and in a more distal ureteral location. Surgical management of pediatric nephrolithiasis is similar to that in adults with ESWL and URS first-line for smaller stones and PCNL reserved for larger renal stone burden. Clinical effectiveness in minimizing risks in children and adolescents with nephrolithiasis centers around ED pathways that limit CT imaging, strict guidance to ALARA principles or use of US during surgical procedures, and education of both patients and families on the risks of repeat ionizing radiation exposures during follow up and acute colic events.

  11. [Diagnosis and treatment of pediatric subglottic stenosis: experience in a tertiary care center].

    PubMed

    Botto, Hugo Alberto; Pérez, Cinthia Giselle; Cocciaglia, Alejandro; Nieto, Mary; Rodríguez, Hugo Aníbal

    2015-08-01

    Subglottic stenosis is among the most common causes of airway obstruction in children, 90% of which resulting from endotracheal intubation. The diagnosis is based on the patient's clinical, radiologic evaluation, flexible laryngoscopy and rigid airway endoscopy under general anesthesia. It must be suspected in children with respiratory distress after extubation. The therapeutic approach depends on the severity of the subglottic stenosis and the patient's symptoms. We describe our experience with the subglottic stenosis etiologies, diagnosis, treatment and outcome of patients with this condition.

  12. ANTERIOR CRUCIATE LIGAMENT INJURY DIAGNOSIS AND MANAGEMENT IN A PEDIATRIC PATIENT: A CASE REPORT

    PubMed Central

    Duby, Cherie

    2012-01-01

    The management of the skeletally immature athlete sustaining injury to the anterior cruciate ligament and other knee structures provides multiple challenges for both the treating clinicians and parents of the injured child. The diagnostic process and subsequent decision making present additional complexities because of the developmental anatomy and the potential for disturbance of normal growth patterns by some surgical interventions. In the following case report, the course to appropriate management of a young athlete is detailed, including the contributions of imaging results. The reconstructive options available to orthopedic surgeons and the patient's post‐operative progression are also briefly discussed. Rehabilitation practitioners require an understanding of the unique issues present when providing care for pediatric and adolescent athletes with knee injuries in order to assist in optimal decision making in the phases during which they are involved. Level of Evidence: 5 (Single Case Report) PMID:23316431

  13. Pediatric feeding and eating disorders: current state of diagnosis and treatment.

    PubMed

    Kelly, Nichole R; Shank, Lisa M; Bakalar, Jennifer L; Tanofsky-Kraff, Marian

    2014-05-01

    The Diagnostic and Statistical Manual of Mental Disorders now recognizes six primary feeding and eating disorders including pica, rumination disorder, avoidant/restrictive food intake disorder, anorexia nervosa, bulimia nervosa and binge-eating disorder. Guided by research from the past 3 years, the current review outlines diagnostic criteria for each disorder, their clinical correlates and treatment options. Recent modifications to diagnostic criteria will likely help to improve treatment outcomes and prognosis. Nevertheless, several concerns remain regarding the validity of current diagnostic criteria for youth, including the clinical relevance of the size and frequency of binge eating episodes. Additionally, the lack of randomized controlled trials has led to an overreliance on data from quasi-experimental studies, case series and single case studies that impede development of strong clinical recommendations for treating feeding and eating disorders. Recommendations for future research include identifying empirically supported treatments and prevention programs focused on early markers of pediatric feeding and eating concerns.

  14. 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

  15. Post Tick-Borne Encephalitis Virus Vaccination Narcolepsy with Cataplexy

    PubMed Central

    Hidalgo, Hildegard; Kallweit, Ulf; Mathis, Johannes; Bassetti, Claudio L.

    2016-01-01

    Study Objectives: Narcolepsy with cataplexy (NC) is a chronic neurological disorder thought to result from an altered immune response based on a genetic predisposition coupled with environmental factors. Pandemrix vaccination has been reported to increase the risk of narcolepsy. We aimed at identifying other vaccines associated with the onset of narcolepsy. Methods: Case series and retrospective database study. Results: We identified four cases of NC following a tick-borne encephalitis (TBE) vaccination with FSME Immun. Additional four cases could be detected in the database of the Paul-Ehrlich-Institut, Federal Institute for Vaccines and Biomedicines in Germany. Conclusions: Our findings implicate TBE vaccination as a potential additional environmental factor for the development of NC and add additional evidence for an immunological mechanism in the pathogenesis of the disease. Citation: Hidalgo H, Kallweit U, Mathis J, Bassetti CL. Post tick-borne encephalitis virus vaccination narcolepsy with cataplexy. SLEEP 2016;39(10):1811–1814. PMID:27397572

  16. 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.

  17. 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

  18. The clinical spectrum of narcolepsy and idiopathic hypersomnia.

    PubMed

    Aldrich, M S

    1996-02-01

    To better define the clinical spectra of narcolepsy and idiopathic hypersomnia, we retrospectively compared clinical and polygraphic findings and questionnaire results in groups of subjects with narcolepsy with or without cataplexy, idiopathic hypersomnia, insufficient sleep syndrome, mild sleep apnea, and excessive daytime sleepiness not otherwise specified. Sleep paralysis and sleep-related hallucinations were most frequent in narcolepsy-cataplexy, but their frequency did not differ between narcolepsy without cataplexy and idiopathic hypersomnia. Mean durations of nocturnal sleep, daytime naps, and morning grogginess were not increased in idiopathic hypersomnia compared with other groups. Among subjects without cataplexy, symptoms of sleep paralysis and sleep-related hallucinations were equally common in subjects with and without frequent sleep-onset REM periods. These findings suggest that the occurrence of these symptoms in subjects without classical narcolepsy-cataplexy is a function of factors other than a propensity for early onset of REM sleep and indicate a need to reevaluate diagnostic criteria for narcolepsy and idiopathic hypersomnia.

  19. Pediatric Necrotizing Fasciitis: Restitutio Ad Integrum after Early Diagnosis and Aggressive Surgical Treatment

    PubMed Central

    Lemaréchal, Angela; Zundel, Sabine; Szavay, Philipp

    2016-01-01

    Necrotizing fasciitis (NF) is a severe, life-threatening infectious condition. Diagnosis is difficult due to unspecific symptoms yet crucial for favorable outcomes. We report a case of a 1 year old, previously healthy boy, where early suspicion of NF led to prompt aggressive therapy and consecutive restitutio ad integrum. PMID:28035291

  20. 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.

  1. 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.

  2. Psychosocial Profile and Quality of Life in Children With Type 1 Narcolepsy: A Case-Control Study

    PubMed Central

    Rocca, Francesca Letizia; Finotti, Elena; Pizza, Fabio; Ingravallo, Francesca; Gatta, Michela; Bruni, Oliviero; Plazzi, Giuseppe

    2016-01-01

    Study Objectives: To investigate behavioral aspects and quality of life in children and adolescents with type 1 narcolepsy (NT1). Methods: We performed a case-control study comparing 29 patients with NT1 versus sex- and age-matched patients with idiopathic epilepsy (n = 39) and healthy controls (n = 39). Behavior and quality of life were evaluated by self-administered questionnaires (Child Behavior Checklist, Pediatric Quality of Life Inventory). Patient groups were contrasted and scale results were correlated with clinical and polysomnographic parameters, and cerebrospinal fluid hypocretin-1 levels. Results: Young patients with NT1 showed increased internalizing problems associated with aggressive behavior. Emotional profile in patients with NT1 positively correlated with age at onset, diagnostic delay, and subjective sleepiness, whereas treatment and disease duration were associated with fewer behavioral problems (attention problems, aggressive behavior, and attention deficit/hyperactivity disorder). Psychosocial health domains of pediatric NT1 were worse than in healthy controls, whereas the physical health domains were comparable. Conclusions: Young NT1 patients show a discrete pattern of altered behavioral, thought, and mood profile in comparison with healthy controls and with idiopathic epilepsy patients thus suggesting a direct link with sleepiness. Further studies investigating behavior in patients with idiopathic hypersomnia or type 2 narcolepsy are needed to disentangle the role of REM sleep dysfunction and hypocretin deficiency in psychiatric disorders. Symptoms of withdrawal, depression, somatic complaints, thought problems, and aggressiveness were common, NT1 children perceived lower school competencies than healthy children, and their parents also reported worse psychosocial health. Our data suggest that early effective treatment and disease self-awareness should be promoted in NT1 children for their positive effect on behavior and psychosocial health

  3. Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population.

    PubMed

    Riga, M; Psarommatis, I; Lyra, Ch; Douniadakis, D; Tsakanikos, M; Neou, P; Apostolopoulos, N

    2005-04-01

    Early diagnosis, evaluation and treatment of childhood deafness are essential for a child's normal growth. Etiological diagnosis of hearing loss makes prevention, family scheduling and more effective therapy feasible goals. Etiological assessment of sensorineural deafness still remains difficult although recently with the progress of genetics it has become more efficient. In this retrospective study, the etiology of bilateral, sensorineural hearing loss with indication for hearing aids has been studied in 153 hearing impaired children. Etiological diagnosis was based on family and patient record, physical, audiological and laboratory examinations. Among the 94 children who completed the diagnostic protocol etiological groups revealed the following distribution: non-hereditary acquired hearing impairment was present in 36 children (38%) and hereditary was present in 44 (47%) children. The etiology remained unknown in 14 (15%) children. Non-syndromic autosomal dominant type accounted for 13 (29% of hereditary hearing loss) children, non-syndromic autosomal recessive type for 21 (48%) children and syndromic deafness for 10 (23%) children. Modern diagnostic methods, such as genetic testing, help diminish the number of cases with hearing impairment of unknown etiology, for the benefit of children who receive early and appropriate medical, audiologic, genetic and educational counseling based on the etiology of their hearing loss.

  4. Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients)

    PubMed Central

    KARIMZADEH, Parvaneh; JAFARI, Narjes; NEJAD BIGLARI, Habibeh; JABBEHDARI, Sayena; KHAYAT ZADEH, Simin; AHMAD ABADI, Farzad; LOTFI, Azra

    2016-01-01

    Objective We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones. Materials & Methods The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab. Results Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +-46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of: 1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients). Conclusion In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases PMID:27375759

  5. 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

  6. Ectopic cervical thymus as a rare cause of pediatric neck mass: the role of ultrasound and MRI in the diagnosis. Case report.

    PubMed

    Ozel, Alper; Akdur, Pinar Ozdemır; Celebi, Irfan; Karasu, Rabia; Yilmaz, Banu; Basak, Muzaffer

    2015-06-01

    Ectopic cervical thymus (ECT) is an uncommon cause for cervical mass in the pediatric age group. Ultrasound and magnetic resonance imaging findings of the mass (located along the thymic descent pathway along the thymopharyngeal tract and has identical echostructure and signal intensities to the native thymus in the superior mediastinum) would lead to the diagnosis. The diagnosis is confirmed by fine needle aspiration biopsy or histopathology after resection. The management of ECT is a conservative follow up, except in symptomatic cases with tracheal compression and histologically confirmed neoplasia where surgery is indicated. We present the case of ECT presenting as a left upper neck mass in a 12 year old girl.

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

    PubMed Central

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

    2014-01-01

    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

  8. 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.

  9. 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…

  10. [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.

  11. The Diagnosis and Management of Attention-Deficit/Hyperactivity Disorder in Pediatric Patients

    PubMed Central

    Adesman, Andrew R.

    2001-01-01

    Attention-deficit/hyperactivity disorder (ADHD), characterized by developmentally inappropriate inattentiveness, impulsivity, and hyperactivity, is the most common and thoroughly researched neuropsychiatric disorder affecting children and adolescents. The diagnosis of ADHD requires a comprehensive clinical assessment including a detailed patient history, clinical interview and observation, and a thorough physical examination. A variety of other disorders can masquerade as ADHD or coexist with the disorder. The clinician must recognize environmental influences that may affect the severity of symptoms exhibited in the child or adolescent with ADHD. Clinically, treatment with a stimulant can be expected to result in an immediate, often dramatic, improvement in the core symptoms of ADHD. Studies published over the past 20 years indicate that the symptoms of ADHD, which were originally thought to diminish as a child matured, may persist into adolescence and adulthood. This article is a review of the most recent recommendations and clinical data regarding the diagnosis and management of ADHD in children and adolescents to assist with appropriate and prudent clinical decision making. PMID:15014618

  12. [Ultrasound diagnosis of nephrologic and urologic diseases in pediatrics. Report on 1000 patients].

    PubMed

    Maurer, G

    1985-01-04

    Urological conditions of infancy and childhood account for the largest single disease group requiring either surgical or medical intervention. This makes early detection and classification of abnormalities mandatory. This study presents an analysis of the results of ultrasonic screening in 1000 patients. Ultrasonic examination was readily instituted even in children with uncharacteristic symptoms for the early detection of abnormalities. Most cases of kidney and upper urinary tract abnormalities were diagnosable by ultrasound examination alone, whereby the characteristic pathoanatomical pattern of the lesion was seen. Lower urinary tract abnormalities were also detected with high accuracy. However, in most patients radiographic investigations were necessary for further classification. Sonography was also of great value in the initial investigation of acute renal failure; in patients with non-specific clinical and laboratory findings ultrasonography often presented the key to the diagnosis. Ultrasound also proved extremely useful in the follow up of patients with kidney and urinary tract disease. Based on the ultrasonic examination of 1000 patients it is shown that sonography is a most helpful and reliable method for the diagnosis or exclusion of kidney and/or urinary tract disease in paediatric patients of any age.

  13. Limitations of urease test in diagnosis of pediatric Helicobacter pylori infection

    PubMed Central

    Seo, Ji-Hyun; Park, Ji Sook; Rhee, Kwang Ho; Youn, Hee-Shang

    2015-01-01

    The diagnosis of Helicobacter pylori (H. pylori) infection is usually based on the results of urease test and histology. The urease test known as a simple and cheap method does not need special skills to perform or to read the result. The time needed for the test to turn positive depends on the concentration of bacteria, and the accuracy is up to the density of H. pylori density in the biopsy sample, which is generally lower in children than adolescents and adults. Therefore, there are debates about the sensitivity of the urease test in children. The reason for lower sensitivity of the urease test in children was not identified, but might be related to the low density and patchy distribution of bacteria. In this review, we discuss the limitations of the urease test in children according to age, histology, number of biopsy samples, and biopsy site. In children under 5 years old, the differences in positivity rate when the urease test used one or three biopsy samples, and samples from the antrum or the gastric body, were larger than those in children aged 5-15 years. Thus, three or more biopsy samples from both the antrum and body would improve the sensitivity of H. pylori infection diagnosis in children under 5 years old. PMID:26566487

  14. Effect of sodium oxybate on disrupted nighttime sleep in patients with narcolepsy.

    PubMed

    Roth, Thomas; Dauvilliers, Yves; Guinta, Diane; Alvarez-Horine, Sarah; Dynin, Efim; Black, Jed

    2016-11-03

    This post hoc analysis evaluated the dose-related effects of sodium oxybate on sleep continuity and nocturnal sleep quality in patients with narcolepsy-cataplexy. Polysomnography data, including shifts to Stage N1/Wake, were from a randomized, placebo-controlled trial of sodium oxybate. Patients were ≥16 years old with a diagnosis of narcolepsy including symptoms of cataplexy and excessive daytime sleepiness. Treatment was for 8 weeks with placebo or sodium oxybate 4.5, 6 or 9 g administered as two equally divided nightly doses. Relative to baseline, significant dose-dependent reductions in the number of shifts per hour from Stages N2/3/rapid eye movement and Stages N2/3 to Stage N1/Wake were observed at week 8 with sodium oxybate (P < 0.05); sodium oxybate 6- and 9-g doses also resulted in similar reductions in shifts per hour of rapid eye movement to Stage N1/Wake (both P < 0.05). Across all shift categories, the shift reductions with sodium oxybate 9 g were significantly greater than those observed with placebo (P < 0.05). Improvements from baseline in reported sleep quality were significantly greater with sodium oxybate 4.5 and 9 g at week 8 (P < 0.05). Correlations between change from baseline in number of shifts per hour to Stage N1/Wake and cataplexy frequency, patient-reported nocturnal sleep quality, and excessive daytime sleepiness assessed using the Epworth Sleepiness Scale were numerically highest for the sodium oxybate 9-g dose across all sleep stage shift categories. In these patients with narcolepsy, sodium oxybate showed improvements in the sleep continuity and nocturnal sleep quality that are characteristic of disrupted nighttime sleep (ClinicalTrials.gov identifier NCT00049803).

  15. Risk of Narcolepsy after AS03 Adjuvanted Pandemic A/H1N1 2009 Influenza Vaccine in Adults: A Case-Coverage Study in England

    PubMed Central

    Stowe, Julia; Andrews, Nicholas; Kosky, Christopher; Dennis, Gary; Eriksson, Sofia; Hall, Andrew; Leschziner, Guy; Reading, Paul; Shneerson, John M.; Donegan, Katherine; Miller, Elizabeth

    2016-01-01

    Study Objectives: An increased risk of narcolepsy has been observed in children following ASO3-adjuvanted pandemic A/H1N1 2009 (Pandemrix) vaccine. We investigated whether this risk extends to adults in England. Methods: Six adult sleep centers in England were visited between November 2012 and February 2014 and vaccination/clinical histories obtained from general practitioners. Suspected narcolepsy cases aged older than 17 y were selected. The risk of narcolepsy following Pandemrix was calculated using cases diagnosed by the time of the center visits and those with a diagnosis by November 30, 2011 after which there was increased awareness of the risk in children. The odds of vaccination in cases and in matched population data were compared using a case-coverage design. Results: Of 1,446 possible cases identified, most had onset before 2009 or were clearly not narcolepsy. Of the 60 remaining cases, 20 were excluded after expert review, leaving 40 cases with narcolepsy; 5 had received Pandemrix between 3 and 18 mo before onset. All the vaccinated cases had cataplexy, two received a diagnosis by November 2011 and two were aged 40 y or older. The odds ratio for vaccination in cases compared to the population was 4.24 (95% confidence interval 1.45–12.38) using all cases and 9.06 (1.90–43.17) using cases with a diagnosis by November 2011, giving an attributable risk of 0.59 cases per 100,000 doses. Conclusions: We found a significantly increased risk of narcolepsy in adults following Pandemrix vaccination in England. The risk was lower than that seen in children using a similar study design. Citation: Stowe J, Andrews N, Kosky C, Dennis G, Eriksson S, Hall A, Leschziner G, Reading P, Shneerson JM, Donegan K, Miller E. Risk of narcolepsy after AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine in adults: a case-coverage study in England. SLEEP 2016;39(5):1051–1057. PMID:26856903

  16. 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.

  17. Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease

    PubMed Central

    Kim, Jung Ah; Kim, Hyun Jin; Cho, Jin Min; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Kim, Kyung Mo; Yoo, Han-Wook

    2015-01-01

    Purpose Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured through hepatitis screening in both adults and children. Herein, we evaluated the diagnostic value of ceruloplasmin for the diagnosis of WD among children with hepatitis. Methods We retrospectively reviewed data on serum ceruloplasmin levels measured as a serologic marker for patients with hepatitis at Asan Medical Center (Seoul, Korea) between from January 2004 to November 2013. The diagnosis of WD was confirmed by the identification of pathogenic variants in the ATP7B gene. To determine the diagnostic accuracy of ceruloplasmin, receiver operation characteristic (ROC) curves were constructed and the area under curve (AUC) were calculated. Results Measurements of serum ceruloplasmin were performed in 2,834 children who had hepatitis. Among these, 181 (6.4%) children were diagnosed with WD. The sensitivity, specificity, and accuracy of a ceruloplasmin level of <20 mg/dL in the discrimination of WD were 93.4%, 84.2%, and 84.8%, respectively. In this study, 418 (14.7%) false-positive cases and 12 (0.4%) false-negative cases were noted. Using a ROC curve, a ceruloplasmin level of ≤16.6 mg/dL showed the highest AUC value (0.956) with a sensitivity of 91.2%, a specificity of 94.9%, and an accuracy of 94.7%. Conclusion The measurement of serum ceruloplasmin was frequently used for the screening of WD in children, despite a low positive rate. The diagnostic value of ceruloplasmin may be strengthened by adopting a new lower cut-off level. PMID:26473139

  18. 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

  19. Clinical and practical considerations in the pharmacologic management of narcolepsy.

    PubMed

    Thorpy, Michael J; Dauvilliers, Yves

    2015-01-01

    Despite published treatment recommendations and the availability of approved and off-label pharmacologic therapies for narcolepsy, the clinical management of this incurable, chronic neurologic disorder remains challenging. While treatment is generally symptomatically driven, decisions regarding which drug(s) to use need to take into account a variety of factors that may affect adherence, efficacy, and tolerability. Type 1 narcolepsy (predominantly excessive daytime sleepiness with cataplexy) or type 2 narcolepsy (excessive daytime sleepiness without cataplexy) may drive treatment decisions, with consideration given either to a single drug that targets multiple symptoms or to multiple drugs that each treat a specific symptom. Other drug-related characteristics that affect drug choice are dosing regimens, tolerability, and potential drug-drug interactions. Additionally, the patient should be an active participant in treatment decisions, and the main symptomatic complaints, treatment goals, psychosocial setting, and use of lifestyle substances (ie, alcohol, nicotine, caffeine, and cannabis) need to be discussed with respect to treatment decisions. Although there is a lack of narcolepsy-specific instruments for monitoring therapeutic effects, clinically relevant subjective and objective measures of daytime sleepiness (eg, Epworth Sleepiness Scale and Maintenance of Wakefulness Test) can be used to provide guidance on whether treatment goals are being met. These considerations are discussed with the objective of providing clinically relevant recommendations for making treatment decisions that can enhance the effective management of patients with narcolepsy.

  20. Mechanistic insights into influenza vaccine-associated narcolepsy

    PubMed Central

    Ahmed, S. Sohail; Steinman, Lawrence

    2016-01-01

    ABSTRACT We previously reported an increased frequency of antibodies to hypocretin (HCRT) receptor 2 in sera obtained from narcoleptic patients who received the European AS03-adjuvanted vaccine Pandemrix (GlaxoSmithKline Biologicals, s.a.) for the global influenza A H1N1 pandemic in 2009 [A(H1N1)pdm09]. These antibodies cross-reacted with a particular fragment of influenza nucleoprotein (NP) – one of the proteins naturally contained in the virus used to make seasonal influenza vaccine and pandemic influenza vaccines. The purpose of this commentary is to provide additional insights and interpretations of the findings and share additional data not presented in the original paper to help the reader appreciate the key messages of that publication. First, a brief background to narcolepsy and vaccine-induced narcolepsy will be provided. Then, additional insights and clarification will be provided on the following topics: 1) the critical difference identified in the adjuvanted A(H1N1)pdm09 vaccines, 2) the contributing factor likely for the discordant association of narcolepsy between the AS03-adjuvanted pandemic vaccines Pandemrix and Arepanrix (GlaxoSmithKline Biologicals, s.a.), 3) the significance of detecting HCRT receptor 2 (HCRTr2) antibodies in some Finnish control subjects, 4) the approach used for the detection of HCRTr2 antibodies in vaccine-associated narcolepsy, and 5) the plausibility of the proposed mechanism involving HCRTr2 modulation in vaccine-associated narcolepsy. PMID:27031682

  1. 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.

  2. Orthodontic extrusion: diagnosis and treatment with CBCT in a pediatric patient.

    PubMed

    Bahadure, Rakesh N; Thosar, Nilima; Khubchandani, Monika

    2013-07-01

    Traumatic injury to a primary tooth can affect the underlying permanent tooth germ, and may result in a malformed, hypoplastic crown or root. The degree and nature of malformation depends on the injury. Most trauma cases can be diagnosed using conventional 2-dimensional radiographs, but some cases may benefit from more advanced 3-dimensional imaging such as cone-beam computed tomography (CBCT). This report describes the use of CBCT in the diagnosis and treatment planning of a case in which a 10-year-old girl reported with an impacted, recessed central incisor. The tooth was deformed due to trauma at an early age. Conventional 2-dimensional occlusal and periapical radiographs seemed to indicate that the root had almost completely resorbed. This implied that the optimal treatment plan would be the extraction of the central incisor and, later, the placement of an implant with a crown or bridge. However, a 3-dimensional CBCT radiographic examination showed that the tooth root was long and had enough of a crown-to-root ratio to anchor the tooth. The CBCT examination compelled the treating dentists to maintain the central incisor by orthodontically extruding the tooth and then rebuilding it with a bonded composite restoration.

  3. 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

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

    PubMed Central

    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

  5. 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.

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

    PubMed

    Nigam, Gaurav; Pathak, Charu; Riaz, Muhammad

    2016-04-08

    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.

  7. 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

  8. 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

  9. Whole-Proteome Peptide Microarrays for Profiling Autoantibody Repertoires within Multiple Sclerosis and Narcolepsy.

    PubMed

    Zandian, Arash; Forsström, Björn; Häggmark-Månberg, Anna; Schwenk, Jochen M; Uhlén, Mathias; Nilsson, Peter; Ayoglu, Burcu

    2017-02-09

    The underlying molecular mechanisms of autoimmune diseases are poorly understood. To unravel the autoimmune processes across diseases, comprehensive and unbiased analyses of proteins targets recognized by the adaptive immune system are needed. Here we present an approach starting from high-density peptide arrays to characterize autoantibody repertoires and to identify new autoantigens. A set of ten plasma and serum samples from subjects with multiple sclerosis, narcolepsy, and without any disease diagnosis were profiled on a peptide array representing the whole proteome, hosting 2.2 million 12-mer peptides with a six amino acid lateral shift. On the basis of the IgG reactivities found on these whole-proteome peptide microarrays, a set of 23 samples was then studied on a targeted array with 174 000 12-mer peptides of single amino acid lateral shift. Finally, verification of IgG reactivities was conducted with a larger sample set (n = 448) using the bead-based peptide microarrays. The presented workflow employed three different peptide microarray formats to discover and resolve the epitopes of human autoantibodies and revealed two potentially new autoantigens: MAP3K7 in multiple sclerosis and NRXN1 in narcolepsy. The presented strategy provides insights into antibody repertoire reactivity at a peptide level and may accelerate the discovery and validation of autoantigens in human diseases.

  10. Pediatric sialendoscopy.

    PubMed

    Bruch, Jean M; Setlur, Jennifer

    2012-01-01

    Sialendoscopy was introduced in the early 1990s as a minimally invasive alternative to standard methods for diagnosis and treatment of inflammatory and obstructive salivary gland disease. The technique was pioneered in adults; however, advances in instrumentation have allowed this to be adapted to the smaller salivary ductal anatomy found in the pediatric population. In this chapter, the technique of sialendoscopy for parotid and submandibular glands is described.

  11. 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.

  12. Hypocretin (orexin) biology and the pathophysiology of narcolepsy with cataplexy.

    PubMed

    Liblau, Roland S; Vassalli, Anne; Seifinejad, Ali; Tafti, Mehdi

    2015-03-01

    The discovery of hypocretins (orexins) and their causal implication in narcolepsy is the most important advance in sleep research and sleep medicine since the discovery of rapid eye movement sleep. Narcolepsy with cataplexy is caused by hypocretin deficiency owing to destruction of most of the hypocretin-producing neurons in the hypothalamus. Ablation of hypocretin or hypocretin receptors also leads to narcolepsy phenotypes in animal models. Although the exact mechanism of hypocretin deficiency is unknown, evidence from the past 20 years strongly favours an immune-mediated or autoimmune attack, targeting specifically hypocretin neurons in genetically predisposed individuals. These neurons form an extensive network of projections throughout the brain and show activity linked to motivational behaviours. The hypothesis that a targeted immune-mediated or autoimmune attack causes the specific degeneration of hypocretin neurons arose mainly through the discovery of genetic associations, first with the HLA-DQB1*06:02 allele and then with the T-cell receptor α locus. Guided by these genetic findings and now awaiting experimental testing are models of the possible immune mechanisms by which a specific and localised brain cell population could become targeted by T-cell subsets. Great hopes for the identification of new targets for therapeutic intervention in narcolepsy also reside in the development of patient-derived induced pluripotent stem cell systems.

  13. Positive Effects of Massage Therapy on a Patient with Narcolepsy

    PubMed Central

    Hill, Robyn; Baskwill, Amanda

    2013-01-01

    Purpose The purpose of this case report was to investigate the effects of massage therapy on the sleep patterns of a woman with narcolepsy. Participant The 23-year-old woman’s primary symptoms included excessive daytime sleepiness and periodic leg movements (PLM), which were associated with her diagnoses of both narcolepsy and cataplexy. Intervention Five 45-minute massage therapy treatments were administered over a five-week period. The patient’s sleep patterns were recorded each week before the treatment. A final measurement was recorded in the sixth week. The sleep patterns were monitored using the Leeds Sleep Evaluation Questionnaire, which included ten visual analogue scales. Results The results of this case report included an improvement in getting to sleep by 148%, an improvement in quality of sleep by 1100%, an improvement in awake following sleep by 121%, and an improvement in behaviour following wakening by 28% using the Leeds Sleep Evaluation Questionnaire. Conclusion This case report suggests that massage therapy had a positive effect on this patient with narcolepsy. Further research is needed to investigate the effects of massage therapy on narcolepsy and sleep patterns. PMID:23730398

  14. Localization and diagnosis framework for pediatric cataracts based on slit-lamp images using deep features of a convolutional neural network

    PubMed Central

    Zhang, Kai; Long, Erping; Cui, Jiangtao; Zhu, Mingmin; An, Yingying; Zhang, Jia; Liu, Zhenzhen; Lin, Zhuoling; Li, Xiaoyan; Chen, Jingjing; Cao, Qianzhong; Li, Jing; Wu, Xiaohang; Wang, Dongni

    2017-01-01

    Slit-lamp images play an essential role for diagnosis of pediatric cataracts. We present a computer vision-based framework for the automatic localization and diagnosis of slit-lamp images by identifying the lens region of interest (ROI) and employing a deep learning convolutional neural network (CNN). First, three grading degrees for slit-lamp images are proposed in conjunction with three leading ophthalmologists. The lens ROI is located in an automated manner in the original image using two successive applications of Candy detection and the Hough transform, which are cropped, resized to a fixed size and used to form pediatric cataract datasets. These datasets are fed into the CNN to extract high-level features and implement automatic classification and grading. To demonstrate the performance and effectiveness of the deep features extracted in the CNN, we investigate the features combined with support vector machine (SVM) and softmax classifier and compare these with the traditional representative methods. The qualitative and quantitative experimental results demonstrate that our proposed method offers exceptional mean accuracy, sensitivity and specificity: classification (97.07%, 97.28%, and 96.83%) and a three-degree grading area (89.02%, 86.63%, and 90.75%), density (92.68%, 91.05%, and 93.94%) and location (89.28%, 82.70%, and 93.08%). Finally, we developed and deployed a potential automatic diagnostic software for ophthalmologists and patients in clinical applications to implement the validated model. PMID:28306716

  15. Health-related stigma as a determinant of functioning in young adults with narcolepsy.

    PubMed

    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.

  16. 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

  17. Diagnosis of an Intraventricular Cyst Using Point-of-Care Cranial Ultrasound in the Pediatric Emergency Department.

    PubMed

    Doctor, Kaynan; Cohen, Joanna S

    2017-03-01

    A 2-month-old previously healthy male infant presents with 2 days of unusual eye movements and increased fatigue. During evaluation in the pediatric emergency department, point-of-care cranial ultrasound identified a cyst-like mass. Subsequent magnetic resonance imaging confirmed the presence of a cyst within the third ventricle causing obstructive hydrocephalus.

  18. 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

  19. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy.

    PubMed

    Hungs, M; Lin, L; Okun, M; Mignot, E

    2001-11-27

    Human narcolepsy/cataplexy is associated with reduced hypocretin (orexin) transmission. A common preprophypocretin (HCRT) polymorphism (-909C/T) was identified and tested in 502 subjects (105 trio families, 80 Caucasian narcolepsy cases, and 107 Caucasian control subjects). This polymorphism was not associated with the disease. The promoter and 5' untranslated (5'URT) regions of the HCRT gene (-320 to +21 from ATG) were also sequenced in 281 subjects. None of the subjects carried -22T, a rare 5'UTR polymorphism previously reported to be associated with narcolepsy. The HCRT locus is not a major narcolepsy susceptibility locus.

  20. The role of hypocretins (orexins) in sleep regulation and narcolepsy.

    PubMed

    Taheri, Shahrad; Zeitzer, Jamie M; Mignot, Emmanuel

    2002-01-01

    The hypocretins (orexins) are two novel neuropeptides (Hcrt-1 and Hcrt-2), derived from the same precursor gene, that are synthesized by neurons located exclusively in the lateral, posterior, and perifornical hypothalamus. Hypocretin-containing neurons have widespread projections throughout the CNS with particularly dense excitatory projections to monoaminergic centers such as the noradrenergic locus coeruleus, histaminergic tuberomammillary nucleus, serotoninergic raphe nucleus, and dopaminergic ventral tegmental area. The hypocretins were originally believed to be primarily important in the regulation of appetite; however, a major function emerging from research on these neuropeptides is the regulation of sleep and wakefulness. Deficiency in hypocretin neurotransmission results in the sleep disorder narcolepsy in mice, dogs, and humans. The hypocretins are also uniquely positioned to link sleep, appetite, and neuroendocrine control. The aim of this review is to describe and discuss the current knowledge regarding the hypocretin neurotransmitter system in narcolepsy and normal sleep.

  1. 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.

  2. 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

  3. An autoantibody in narcolepsy disrupts colonic migrating motor complexes.

    PubMed

    Jackson, Michael W; Reed, Joanne H; Smith, Anthony J F; Gordon, Tom P

    2008-12-03

    Despite strong circumstantial evidence for the autoimmune hypothesis of narcolepsy, conventional immunological methods have failed to detect an autoantibody. This study investigated the real-time effects of narcoleptic immunoglobulins on a spontaneous colonic migrating motor complex (CMMC) preparation. IgG from patients with narcolepsy with cataplexy or healthy controls was added directly to isolated mouse colons undergoing CMMC activity to test for autoantibodies that disrupt colonic motility. The effect of immunoglobulins prepared for clinical intravenous treatment (IVIg) on autoantibody-mediated colonic disruption was also assessed. Narcoleptic IgGs markedly reduced the frequency of CMMCs or irreversibly abolished them. Abrogation of CMMCs was followed by an increase in the resting tension of the colon preparation and appearance of atropine-sensitive phasic smooth muscle contractions. IVIg partially neutralized the inhibitory effect of narcoleptic IgG on the CMMCs. The dramatic effect of narcoleptic IgG on CMMC generation is consistent with an autoantibody-mediated disruption of enteric neural pathways. The ex vivo whole-organ approach allows real-time examination of the physiological effects of the narcoleptic autoantibody and offers a new avenue for exploring the autoimmune basis of narcolepsy. The neutralizing effect of IVIg on the autoantibody provides a rationale for the reported clinical improvement in cataplexy when IVIg are given at disease onset.

  4. 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…

  5. Narcolepsy with cataplexy in a child with Charcot-Marie-Tooth disease. Case Report.

    PubMed

    Zheng, Feixia; Wang, Shuang

    2016-09-01

    We report an 8-year-old boy diagnosed with both CMT1 and narcolepsy, which were not reported simultaneously presenting in one person. The boy presented with a history of increased suddenly falling frequency and excessive daytime sleepiness for 3 months. CMT1 was diagnosed by electrophysiology and genetic testing. Narcolepsy had not been diagnosed until the frequently falling caused by sudden and transient episodes of legs weakness triggered by emotion was found. Multiple sleep latency test showed multiple sleep onset REM periods with reduced sleep latency. When CMT1 and narcolepsy were coexist in an individual, the latter might be overlooked. Cataplexy caused by narcolepsy might be disregard as distal muscle weakness of CMT1. The daytime sleepiness might also be ignored. Therefore, we recommend that patients with sleep disorders should be queried about the symptoms of narcolepsy.

  6. Disrupted Sleep in Narcolepsy: Exploring the Integrity of Galanin Neurons in the Ventrolateral Preoptic Area

    PubMed Central

    Gavrilov, Yury V.; Ellison, Brian A.; Yamamoto, Mihoko; Reddy, Hasini; Haybaeck, Johannes; Mignot, Emmanuel; Baumann, Christian R.; Scammell, Thomas E.; Valko, Philipp O.

    2016-01-01

    Study Objectives: To examine the integrity of sleep-promoting neurons of the ventrolateral preoptic nucleus (VLPO) in postmortem brains of narcolepsy type 1 patients. Methods: Postmortem examination of five narcolepsy and eight control brains. Results: VLPO galanin neuron count did not differ between narcolepsy patients (11,151 ± 3,656) and controls (13,526 ± 9,544). Conclusions: A normal number of galanin-immunoreactive VLPO neurons in narcolepsy type 1 brains at autopsy suggests that VLPO cell loss is an unlikely explanation for the sleep fragmentation that often accompanies the disease. Citation: Gavrilov YV, Ellison BA, Yamamoto M, Reddy H, Haybaeck J, Mignot E, Baumann CR, Scammell TE, Valko PO. Disrupted sleep in narcolepsy: exploring the integrity of galanin neurons in the ventrolateral preoptic area. SLEEP 2016;39(5):1059–1062. PMID:26951397

  7. 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.

  8. 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.

  9. Role of fibrinolytic and clotting parameters in the diagnosis of liver veno-occlusive disease after hematopoietic stem cell transplantation in a pediatric population.

    PubMed

    Sartori, Maria Teresa; Spiezia, Luca; Cesaro, Simone; Messina, Chiara; Paris, Myriam; Pillon, Marta; Saggiorato, Graziella; Pagnan, Antonio; Girolami, Antonio; Zanesco, Luigi; Cella, Giuseppe

    2005-04-01

    Hepatic veno-occlusive disease (VOD) is a severe complication after hematopoietic stem cell transplantation (HSCT). Recent studies, mainly in adults receiving HSCT, have identified an increase in the plasminogen activator inhibitor-1 (PAI-1) as a possible marker of VOD. To confirm this finding, the fibrinolytic, coagulation and liver function parameters were assayed before and weekly for 1 month after 61 HSCT performed in 53 consecutive children. Non-VOD patients had a slight increase in t-PA antigen, fibrinogen and P-selectin levels, as well as a mildly longer aPTT and a drop in antithrombin after HSCT. The 6 children with VOD (9.84%) had an early and significant increase in PAI-1 antigen and activity (p<0.0001), t-PA antigen (p<0.0001) and D-dimer (p<0.01) levels, and a decrease in plasminogen, alpha 2-antiplasmin and PT emerged 2(+/-1) days before the clinical diagnosis of VOD by comparison with mean post-HSCT values in the non-VOD patients. Significant differences were also detected for these parameters and antithrombin levels between non-VOD and VOD patients soon after the clinical onset of VOD, whereas the rise in bilirubin levels became significant only later on. In conclusion, variations in fibrinolytic test findings after HSCT, and PAI-1 in particular, may facilitate the early diagnosis of VOD in pediatric patients after HSCT.

  10. 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

  11. Access to diagnosis, treatment, and supportive services among pharmacotherapy-treated children/adolescents with ADHD in Europe: data from the Caregiver Perspective on Pediatric ADHD survey

    PubMed Central

    Fridman, Moshe; Banaschewski, Tobias; Sikirica, Vanja; Quintero, Javier; Chen, Kristina S

    2017-01-01

    Background Attention-deficit/hyperactivity disorder (ADHD) is one of the most common childhood psychiatric disorders and negatively impacts caregivers’ lives. Factors including barriers to accessing care, dissatisfaction with support services, and lack of caregiver resources may contribute to this. Objectives To report caregivers’ experiences of ADHD diagnosis, behavioral therapy (BT), and supportive care for children/adolescents with ADHD. Methods The Caregiver Perspective on Pediatric ADHD (CAPPA) survey included caregivers of children/adolescents (6–17 years) from ten European countries who were currently receiving/had received ADHD pharmacotherapy in the previous 6 months. Caregivers reported experiences of obtaining an ADHD diagnosis, access to BT, availability of caregiver resources, and level of health care/school support. Pan-EU and country-specific descriptive statistics are reported; responses were compared across countries. Results Of 3,616 caregivers, 66% were female. Mean age of children/adolescents was 11.5 years; 80% were male. Mean time from the first doctor visit to diagnosis was 10.8 (95% confidence interval 10.2, 11.3) months; 31% of caregivers reported the greatest degrees of difficulty in obtaining an ADHD diagnosis; 44% of children/adolescents did not receive BT. Forty-seven percent of caregivers reported that sufficient resources were available, 44% were “very satisfied”/“satisfied” with medical care, and 50% found health care providers “very supportive”/“somewhat supportive”. Mainstream schools were attended by 82% of children/adolescents. Of those, 67% of caregivers thought schools could help more with the child/adolescent’s ADHD and 48% received extra help/special arrangement. Results varied significantly between countries (P<0.001, all parameters). Conclusion Almost a third of caregivers reported a high degree of difficulty in obtaining an ADHD diagnosis for their child/adolescent, less than half felt that

  12. 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

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

    PubMed

    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.

  14. Value of the combined examination of Cys-C and HbA1c for diagnosis of early renal injury in pediatric diabetes

    PubMed Central

    Qian, Tong; Tian, Lijun; Li, Yanyan; Zhang, Zhenru; Tian, Xiuying; Sun, Dan

    2017-01-01

    The objective of the present study was to evaluate the combined application of measuring cystatin C (Cys-C) and hemoglobin A1c (HbA1c) levels for early renal injury in pediatric patients with type 2 diabetes. A total of 130 children with type 2 diabetes admitted to our hospital from May 2013 to July 2015 were selected. Patients were divided according to whether there was complication of renal injury. In group A (n=65), the patients had renal injury and in group B (n=65), the patients did not have renal injury. The levels of Cys-C and HbA1c in the two groups were examined. The results showed that the levels of Cys-C and HbA1c of patients in group A were significantly higher than those in group B (P<0.05), and the positive rate of the combined examination of Cys-C and HbA1c in group A was 92.3%, and was higher than that of the individual examinations of either Cys-C or HbA1c (P<0.05). The Spearman's correlation coefficient analysis was applied to group B and showed that Cys-C was positively correlated with HbA1c (r=0.842, P<0.05). From analysis of the receiver operating characteristic curves, the combined examination of Cys-C and HbA1c surpassed the individual examinations of Cys-C or HbA1c in sensitivity and specificity (P<0.05). In conclusion, the positive detection rate of early renal injury was significantly increased by the combined examination of Cys-C and HbA1c in pediatric patients with type 2 diabetes, which is beneficial for early identification and diagnosis of this diseases and is worthy of clinical application.

  15. 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…

  16. 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.

  17. 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.

  18. [Celiac disease and the evolution of its diagnosis. Comparison and experience at a hospital pediatric department (1975-1993). (Second part)].

    PubMed

    Della Morte, M A; Sala, M R; Morelli, P; Meschi, V; Silva, A; Colombo, B; Malvezzi, F; Cogliati, F; Mancosu, M; Valli, F

    1993-01-01

    In a period of over 18 years the prominent medical bibliographic marks with regard to definition, diagnosis and examinations of coeliac disease (CD) have been compared and as far as possible reproduced. The results confirm the remarks derivating from wider statistics. From the beginning of 1975 to the first six months of 1993 in Merate Hospital Pediatric Division, 323 patients were submitted to a first jejunal peroral biopsy in 133 cases (41.2%) CD was diagnosed. Since 34 children (25.6%) concluded the ESPGAN diagnostic iter with 3 consecutive biopsies, the reasons why the other patients didn't finish or respect the programs are here examined. Since 1987 a specific anti-gliadin (IgA and IgG) antibodies titrimetry has been available either in the investigation of suspect symptomatology or like control mark during the assessment or after a sure CD diagnosis. Since october 1992 antiendomysium antibodies (EMA or AEA IgA) have been determined only in selected patients. From the examination of 24 subjects now checked with AGA IgA/IgG and EMA and with a first positive biopsy, it is possible to point out that only one jejunal biopsy (or at the most a second one as a control during the gluten challenge) with the guarantee of haematologic patterns doesn't raise doubts about a CD diagnosis. Analogous considerations mainly refer to the atypical CD "late onset" when a constant lack of AGA and EMA during gluten free diet (GFD) or their changes in a non compliance or in gluten challenge, can exclude a following hystological confirmation. By this experience it follows that a specific antigliadin and antiendomysium antibodies investigation is indispensable to the shortening of diagnostic times, to the reduction of an often unwelcome invasive diagnostic method and to the discovery of the "CD iceberg".

  19. [Pediatric adamantinoma. Case report].

    PubMed

    Cafferata, Constanza; Galluzzo, Laura; Cacciavillano, Walter; Innocenti, Sergio

    2015-01-01

    Adamantinoma is a primary tumor of long bones, which affects mainly the shaft of the tibia, and is extremely rare in pediatrics. It frequently presents during the second decade of life, with a slight predominance in males. It is a low grade tumor, with local aggressiveness and low rate of metastasis and recurrence once it is completely removed. Its diagnosis is difficult, not only because it is a rare disease in children, but also because of the difficulty in the differential diagnosis with other benign lesions. We report the case of a 15-year-old patient with a painless swelling of the distal tibia, whose diagnosis was confirmed with the piece of amputation, as imaging features and both initial biopsies were not enough to achieve diagnosis. Though most of the literature consists of case reports, and very few in pediatric patients, they all agree on the difficulty in achieving the diagnosis of adamantinoma.

  20. 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.

  1. 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).

  2. 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.

  3. Pediatric oncology in Turkey.

    PubMed

    Kebudi, Rejin

    2012-03-01

    The survival of children with cancer has increased dramatically in the last decades, as a result of advances in diagnosis, treatment and supportive care. Each year in Turkey, 2500-3000 new childhood cancer cases are expected. According to the Turkish Pediatric Oncology Group and Turkish Pediatric Hematology Societies Registry, about 2000 new pediatric cancer cases are reported each year. The population in Turkey is relatively young. One fourth of the population is younger than 15 years of age. According to childhood mortality, cancer is the fourth cause of death (7.2%) after infections, cardiac deaths and accidents. The major cancers in children in Turkey are leukemia (31%), lymphoma (19%), central nervous system (CNS) neoplasms (13%), neuroblastomas (7%), bone tumors (6.1%), soft tissue sarcomas (6%), followed by renal tumors, germ cell tumors, retinoblastoma, carcinomas-epithelial neoplasms, hepatic tumors and others. Lymphomas rank second in frequency as in many developing countries in contrast to West Europe or USA, where CNS neoplasms rank second in frequency. The seven-year survival rate in children with malignancies in Turkey is 65.8%. The history of modern Pediatric Oncology in Turkey dates back to the 1970's. Pediatric Oncology has been accepted as a subspecialty in Turkey since 1983. Pediatric Oncologists are all well trained and dedicated. All costs for the diagnosis and treatment of children with cancer is covered by the government. Education and infrastructure for palliative care needs improvement.

  4. Pediatric Rhinosinusitis.

    PubMed

    Badr, Dana T; Gaffin, Jonathan M; Phipatanakul, Wanda

    2016-09-01

    Rhinosinusitis, is defined as an inflammation of the paranasal and nasal sinus mucosae. Chronic rhinosinusitis (CRS)is a common problem in the pediatric age group and the diagnosis and treatment are challenging due to the chronicity and similarity of symptoms with allergic rhinitis and adenoid hypertrophy. Although it is less common than acute rhinosinusitis, CRS is becoming more frequent and significantly affects the quality of life in children and can substantially impair daily function. CRS is characterized by sinus symptoms lasting more than 3 months despite medical therapy. Many factors are involved in the pathogenesis of this disease and include a primary insult with a virus followed bybacterial infection and mucosal inflammation, along with predisposition to allergies. The standard treatment of pediatricacute bacterial rhinosinusitis (ABRS) is nasal irrigation and antibiotic use. Medical treatment of pediatric CRS includes avoidance of allergens in allergic patients (environmental or food) and therapy with nasal irrigation, nasal corticosteroids sprays, nasal decongestants, and antibiotics directed at the most common sinonasalorganisms (Haemophilusinfluenzae, Streptococcus pneumoniae, and Moraxella catarrhalis). Surgical therapy is rarely needed after appropriate medical therapy. Referral to an otolaryngologist and allergy specialist is recommended in case of failure of medical treatment.

  5. Plasma obestatin and autonomic function are altered in orexin-deficient narcolepsy, but ghrelin is unchanged.

    PubMed

    Huda, M S B; Mani, H; Durham, B H; Dovey, T M; Halford, J C G; Aditya, B S; Pinkney, J H; Wilding, J P; Hart, I K

    2013-06-01

    Narcolepsy-cataplexy is characterised by orexin deficiency, sleep disturbance, obesity and dysautonomia. Ghrelin and obestatin affect both energy intake and sleep. Our aim was to investigate ghrelin, obestatin and metabolic/autonomic function in narcolepsy-cataplexy. Eight narcolepsy-cataplexy patients (seven CSF orexin-deficient) and eight matched controls were studied. The subjects had a fixed energy meal with serial blood samples and measurement of heart rate variability (HRV). Fasting plasma obestatin was more than threefold higher in narcolepsy subjects (narcolepsy 89.6 ± 16 pg/ml vs. control 24.9 ± 3 pg/ml, p < 0.001). There was no change in HRV total power, but post-prandial low-frequency (LF) power and high-frequency (HF) power were lower in the narcolepsy group [area under the curve (AUC): HF power narcolepsy 1.4 × 10(5) ± 0.2 × 10(5) vs. control 3.3 × 10(5) ± 0.6 × 10(5 )ms(2)/h, p < 0.001]. On multiple regression analyses, the only significant predictor of plasma obestatin was HF power, which was inversely correlated with obestatin (β = -0.65 R (2) = 38 %, p = 0.009). Fasting and post-prandial plasma ghrelin were similar in both groups (narcolepsy 589.5 ± 88 pg/ml vs. control 686.9 ± 81 pg/ml, p = 0.5; post-prandial AUC-narcolepsy 161.3 ± 22 ng/ml/min vs. control 188.6 ± 62 ng/ml/min, p = 0.4). Only the narcolepsy group had significant suppression of plasma ghrelin after the meal (ANOVA, p = 0.004). In orexin-deficient narcolepsy, fasting plasma ghrelin is unaltered, and post-prandial suppression is preserved. Fasting plasma obestatin is increased and correlates with autonomic dysfunction. As obestatin affects NREM sleep, we suggest that increased plasma levels contribute to the disrupted sleep-state control in narcolepsy.

  6. 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

    2014-05-01

    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.

  7. 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.

  8. Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system.

    PubMed

    Nishino, Seiji; Kanbayashi, Takashi

    2005-08-01

    Human narcolepsy is a chronic sleep disorder affecting 1:2000 individuals. The disease is characterized by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep, such as sleep paralysis and hypnagogic hallucinations. Recently, it was discovered that the pathophysiology of (idiopathic) narcolepsy-cataplexy is linked to hypocretin ligand deficiency in the brain and cerebrospinal fluid (CSF), as well as the positivity of the human leukocyte antigen (HLA) DR2/DQ6 (DQB1*0602). The symptoms of narcolepsy can also occur during the course of other neurological conditions (i.e. symptomatic narcolepsy). We define symptomatic narcolepsy as those cases that meet the International Sleep Disorders Narcolepsy Criteria, and which are also associated with a significant underlying neurological disorder that accounts for excessive daytime sleepiness (EDS) and temporal associations. To date, we have counted 116 symptomatic cases of narcolepsy reported in literature. As, several authors previously reported, inherited disorders (n=38), tumors (n=33), and head trauma (n=19) are the three most frequent causes for symptomatic narcolepsy. Of the 116 cases, 10 are associated with multiple sclerosis, one case of acute disseminated encephalomyelitis, and relatively rare cases were reported with vascular disorders (n=6), encephalitis (n=4) and degeneration (n=1), and hererodegenerative disorder (three cases in a family). EDS without cataplexy or any REM sleep abnormalities is also often associated with these neurological conditions, and defined as symptomatic cases of EDS. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, review of the literature reveals numerous unquestionable cases of symptomatic narcolepsy. These include cases with HLA negative and/or late onset, and cases in which the occurrences of the narcoleptic symptoms are parallel with the rise and fall of the causative disease. A review of these cases

  9. Narcolepsy and syndromes of primary excessive daytime somnolence.

    PubMed

    Black, Jed E; Brooks, Stephen N; Nishino, Seiji

    2004-09-01

    Excessive daytime sleepiness (EDS) or somnolence is common in our patients and in society in general. The most common cause of EDS is "voluntary" sleep restriction. Other common causes include sleep-fragmenting disorders such as the obstructive sleep apnea syndrome. Somewhat less familiar to the clinician are EDS conditions arising from central nervous system dysfunction. Of these so-called primary disorders of somnolence, narcolepsy is the most well known and extensively studied, yet often misunderstood and misdiagnosed. Idiopathic hypersomnia, the recurrent hypersomnias, and EDS associated with nervous system disorders also must be well-understood to provide appropriate evaluation and management of the patient with EDS. This review summarizes the distinguishing features of these clinical syndromes of primary EDS. A brief overview of the pharmacological management of primary EDS is included. Finally, in view of the tremendous advances that have occurred in the past few years in our understanding of the pathophysiology of canine and human narcolepsy, we also highlight these discoveries.

  10. 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

  11. [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.

  12. Non-invasive Investigations for the Diagnosis of Fontan-Associated Liver Disease in Pediatric and Adult Fontan Patients

    PubMed Central

    Fidai, Amyna; Dallaire, Frederic; Alvarez, Nanette; Balon, Yvonne; Clegg, Robin; Connelly, Michael; Dicke, Frank; Fruitman, Deborah; Harder, Joyce; Myers, Kimberley; Patton, David J.; Prieur, Tim; Vorhies, Erika; Myers, Robert P.; Martin, Steven R.; Greenway, Steven C.

    2017-01-01

    Fontan-associated liver disease (FALD) is a serious complication related to the chronically elevated venous pressure and low cardiac output of this abnormal circulation. However, diagnostic markers for this condition are limited. We hypothesized that specific tests for fibrosis developed for other chronic liver diseases would identify a higher prevalence of FALD than ultrasound and standard laboratory tests and that identified abnormalities would correlate with time post-Fontan. In this cross-sectional study, we assessed 19 children (average age 8.4 ± 4.3 and 5.4 ± 4.1 years post-Fontan) and 8 adults (average age 31.5 ± 8.9 and 21.1 ± 4 years post-Fontan) using standard serum laboratory investigations assessing hepatic integrity and function, the FibroTest, liver ultrasound, and transient elastography (FibroScan). In adult Fontan patients, hemoglobin, C-reactive protein, and gamma-glutamyl transpeptidase were significantly increased, and white blood cell and platelet counts were significantly decreased in comparison to the pediatric cohort. International normalized ratio was mildly elevated in both children and adults. FibroTest results were suggestive of fibrosis regardless of time post-Fontan. FibroScan measurements were significantly correlated with time post-Fontan, but the incidence of ultrasound-detected liver abnormalities was variable. No cases of hepatocellular carcinoma were identified. Abnormalities suggestive of FALD occur in both children and adults post-Fontan. Select laboratory tests, and possibly ultrasound and FibroScan in some patients, appear to have the most promise for the non-invasive detection of FALD.

  13. Ultrasound Diagnosis of Either an Occult or Missed Fracture of an Extremity in Pediatric-Aged Children

    PubMed Central

    Lee, Sung-Moon; Lee, Young-Hwan; Suh, Kyung-Jin

    2010-01-01

    Objective To report and assess the usefulness of ultrasound (US) findings for occult fractures of growing bones. Materials and Methods For six years, US scans were performed in children younger than 15 years who were referred with trauma-related local pain and swelling of the extremities. As a routine US examination, the soft tissue, bones, and adjacent joints were examined in the area of discomfort, in addition to the asymptomatic contralateral extremity for comparison. Twenty-five occult fractures in 25 children (age range, five months-15 years; average age, 7.7 years) were confirmed by initial and follow-up radiograms, additional imaging studies, and clinical observation longer than three weeks. Results The most common site of occult fractures was the elbow (n = 9, 36%), followed by the knee (n = 7, 28%), ischium (n = 4, 16%), distal fibula (n = 3, 12%), proximal femur (n = 1, 4%), and humeral shaft (n = 1, 4%). On the retrograde review of the routine radiographs, 13 out of the 25 cases showed no bone abnormalities except for various soft tissue swelling. For the US findings, cortical discontinuity (direct sign of a fracture) was clearly visualized in 23 cases (92%) and was questionable in two (8%). As auxiliary US findings (indirect signs of a fracture), step-off deformities, tiny avulsed bone fragments, double-line appearance of cortical margins, and diffuse irregularity of the bone surfaces were identified. Conclusion Performing US for soft tissue and bone surfaces with pain and swelling, with or without trauma history in the extremities, is important for diagnosing occult or missed fractures of immature bones in pediatric-aged children. PMID:20046499

  14. Pediatric and Teen Ovarian Tissue Removed for Cryopreservation Contains Follicles Irrespective of Age, Disease Diagnosis, Treatment History, and Specimen Processing Methods

    PubMed Central

    Duncan, Francesca E.; Pavone, Mary Ellen; Gunn, Alexander H.; Badawy, Sherif; Gracia, Clarisa; Ginsberg, Jill P.; Lockart, Barbara; Gosiengfiao, Yasmin

    2015-01-01

    Purpose: Fertility preservation in a pediatric and teen female population is challenging because standard technologies of egg and embryo freezing may not be possible due to premenarcheal status. Ovarian tissue cryopreservation (OTC) with the intent of future ovarian tissue transplantation or in vitro follicle growth may be the only option to preserve fertility. The purpose of this study was to add to the general understanding of primordial follicle dynamics in young patients. Methods: First, the unique infrastructure of the Oncofertility Consortium National Physicians Cooperative (OC-NPC) is described, which simultaneously drives clinical fertility preservation and basic research to explore and expand the reproductive options for those in need. Then, the OC-NPC research resource is used to perform a histological evaluation of ovarian tissue from 24 participants younger than 18 years of age. Results: Primordial follicles, which comprise the ovarian reserve, were observed in all participant tissues, irrespective of variables, including age, diagnosis, previous treatment history, tissue size, and tissue processing methods. Primordial follicles were present in ovarian tissue, even in participants who had a previous history of exposure to chemotherapy and/or radiation treatment regimens, which placed them at risk for iatrogenic infertility or premature ovarian failure. Conclusion: Primordial follicles were observed in ovarian tissue from all participants examined, despite population and tissue heterogeneity. These results increase the understanding of human follicle dynamics and support OTC as a promising fertility preservation modality in the young female population. Future studies to evaluate follicle quality within these tissues are warranted. PMID:26697267

  15. Comparison of endotracheal aspirate and non-bronchoscopic bronchoalveolar lavage in the diagnosis of ventilator-associated pneumonia in a pediatric intensive care unit.

    PubMed

    Yıldız-Atıkan, Başak; Karapınar, Bülent; Aydemir, Şöhret; Vardar, Fadıl

    2015-01-01

    Ventilator-associated pneumonia (VAP) is defined as pneumonia occuring in any period of mechanical ventilation. There is no optimal diagnostic method in current use and in this study we aimed to compare two non-invasive diagnostic methods used in diagnosis of VAP in children. This prospective study was conducted in 8 bedded Pediatric Intensive Care Unit at Ege University Children´s Hospital. Endotracheal aspiration (ETA) and non-bronchoscopic bronchoalveolar lavage (BAL) were performed in case of developing VIP after 48 hours of ventilation. Quantitative cultures were examined in Ege University Department of Diagnostic Microbiology, Bacteriology Laboratory. Fourty-one patients were enrolled in the study. The mean age of study subjects was 47.2±53.6 months. A total of 28 in 82 specimens taken with both methods were negative/negative; 28 had positive result with ETA and a negative result with non-bronchoscopic BAL and both results were negative in 26 specimens. There were no patients whose respiratory specimen culture was negative with ETA and positive with non-bronchoscopic BAL. These results imply that there is a significant difference between two diagnostic methods (p < 0.001). Negative non-bronchoscopic BAL results are recognized as absence of VAP; therefore, ETA results were compared with this method. ETA's sensitivity, specificity, negative and positive predictive values were 100%, 50%, 100% and 48% respectively. The study revealed the ease of usability and the sensitivity of non-bronchoscopic BAL, in comparison with ETA.

  16. Pediatric Cervicofacial Necrotizing Fasciitis

    PubMed Central

    King, Ericka; Chun, Robert; Sulman, Cecille

    2015-01-01

    Objective To present a case of a pediatric cervicofacial necrotizing fasciitis (NF), a rapidly progressive infection, and a review of a 10-year pediatric inpatient database. Design Case report and review. Setting Pediatric intensive care unit. Patients A healthy 5-year-old male who developed NF of the lower lip 36 hours following minor trauma. International Classification of Diseases, Ninth Revision, code 728.86 (NF), was the inclusion criteria for the Kids’ Inpatient Database (KID) in 1997 and 2006. Results A pediatric case is presented with a thorough photographic record demonstrating the need for rapid diagnosis and treatment. In a review of the KID from 1997 and 2006, the relative risk of being discharged with NF in 2006 vs 1997 was 1.4 (95% CI, 9.95-2.28). Age at diagnosis of NF was older in 2006 compared with 1997 (11.5 years vs 8.05 years; P<.001). Deaths with a diagnosis of NF increased from 1997 compared with 2006: from 3.9% to 5.4%. In 2006, the odds of death were 15.1 times higher in pediatric discharges with a diagnosis of NF compared with discharges without a diagnosis of NF (P<.001; 95% CI, 9.3-23.1). Conclusions Even with the advent of new treatments and antibiotics, the incidence and death rates of NF have changed little over the past 10 years. While it is still a rare diagnosis, knowledge and awareness of necrotizing fasciitis with aggressive medical and surgical treatment are still the foundation in disease survival. PMID:22508620

  17. Pediatric sedation.

    PubMed

    Daud, Yasmeen N; Carlson, Douglas W

    2014-08-01

    Pediatric sedation is an evolving field performed by an extensive list of specialties. Well-defined sedation systems within pediatric facilities are paramount to providing consistent, safe sedation. Pediatric sedation providers should be trained in the principles and practice of sedation, which include patient selection, pre-sedation assessment to determine risks during sedation, selection of optimal sedation medication, monitoring requirements, and post-sedation care. Training, credentialing, and continuing sedation education must be incorporated into sedation systems to verify and monitor the practice of safe sedation. Pediatric hospitalists represent a group of providers with extensive pediatric knowledge and skills who can safely provide pediatric sedation.

  18. 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

  19. Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

    PubMed

    Ito, Hiromichi; Mori, Kenji; Mori, Tatsuo; Goji, Aya; Kagami, Shoji

    2014-10-01

    We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.

  20. Considerations in the Diagnosis and Management of Pediatric Patients With Favorable Histology Wilms Tumor Who Present With Only Pulmonary Nodules.

    PubMed

    Green, Daniel M

    2016-04-01

    More than 70% of children with stage IV, favorable histology (FH) Wilms tumor will be relapse-free survivors 16 years after diagnosis. Successful treatment generally includes whole lung radiation therapy and doxorubicin. Such therapy is associated with adverse, long-term effects, including impaired pulmonary function, congestive heart failure, and second malignant neoplasms, especially breast cancer. Cooperative groups have adopted a risk-based approach to the treatment of these patients. It is important to recall the good overall prognosis for this group before recommendations for intensification are made based on preliminary data and in the absence of histological confirmation of persistent malignant disease.

  1. Increased REM density in narcolepsy-cataplexy and the polysymptomatic form of idiopathic hypersomnia.

    PubMed

    Vanková, J; Nevsímalová, S; Sonka, K; Spacková, N; Svejdová-Blazejová, K

    2001-09-15

    The present work is focused on REM sleep density in patients with primary hypersomnia in comparison with non-hypersomnia subjects. 28 unmedicated patients with narcolepsy-cataplexy (NC) and 10 unmedicated patients suffering from the polysymptomatic form of idiopathic hypersomnia (IH) and their age- and sex-matched controls were included in the study. The clinical diagnosis was confirmed by MSLT and nocturnal PSG, HLA typing was performed in a respective group of narcoleptic patients. Polygraphical recordings were visually scored with particular regard to the two most characteristic phasic features of REM sleep: the number of rapid eye movements (REMs) and chin muscle twitches (Tws) per minute. These events were evaluated according to recognized criteria; a closer look was taken at both their frequency and their distribution across all the nocturnal REM periods (REMPs). The following main differences between hypersomniac patients (of both groups examined) and healthy controls were found in terms of phasic activity: (I) REM density (expressed in REMs/min and Tws/min in each REM period) was significantly increased in the hypersomniac patients in comparison with the controls. (p>0.05).(II) The intra-night phasic activity distribution was found rising more conspicuously in the hypersomniacs than in the controls.

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

    PubMed Central

    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 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

  3. Narcolepsy and A(H1N1)pdm09 vaccination

    PubMed Central

    van der Most, Robbert; Van Mechelen, Marcelle; Destexhe, Eric; Wettendorff, Martine; Hanon, Emmanuel

    2014-01-01

    Epidemiological data from several European countries suggested an increased risk of the chronic sleep disorder narcolepsy following vaccination with Pandemrix™, an AS03-adjuvanted, pandemic A(H1N1)pdm09 influenza vaccine. Further research to investigate potential associations between Pandemrix™ vaccination, A(H1N1)pdm09 influenza infection and narcolepsy is required. Narcolepsy is most commonly caused by a reduction or absence of hypocretin produced by hypocretin-secreting neurons in the hypothalamus, and is tightly associated with HLA-II DQB1*06:02. Consequently, research focusing on CD4+ T-cell responses, building on the hypothesis that for disease development, T cells specific for antigen(s) from hypocretin neurons must be activated or reactivated, is considered essential. Therefore, the following key areas of research can be identified, (1) characterization of hypothetical narcolepsy-specific auto-immune CD4+ T cells, (2) mapping epitopes of such T cells, and (3) evaluating potential mechanisms that would enable such cells to gain access to the hypothalamus. Addressing these questions could further our understanding of the potential links between narcolepsy and A(H1N1)pdm09 vaccination and/or infection. Of particular interest is that any evidence of a mimicry-based mechanism could also explain the association between narcolepsy and A(H1N1)pdm09 influenza infection. PMID:24342916

  4. Narcolepsy as an autoimmune disease: the role of H1N1 infection and vaccination.

    PubMed

    Partinen, Markku; Kornum, Birgitte Rahbek; Plazzi, Giuseppe; Jennum, Poul; Julkunen, Ilkka; Vaarala, Outi

    2014-06-01

    Narcolepsy is a sleep disorder characterised by loss of hypothalamic hypocretin (orexin) neurons. The prevalence of narcolepsy is about 30 per 100 000 people, and typical age at onset is 12-16 years. Narcolepsy is strongly associated with the HLA-DQB1*06:02 genotype, and has been thought of as an immune-mediated disease. Other risk genes, such as T-cell-receptor α chain and purinergic receptor subtype 2Y11, are also implicated. Interest in narcolepsy has increased since the epidemiological observations that H1N1 infection and vaccination are potential triggering factors, and an increase in the incidence of narcolepsy after the pandemic AS03 adjuvanted H1N1 vaccination in 2010 from Sweden and Finland supports the immune-mediated pathogenesis. Epidemiological observations from studies in China also suggest a role for H1N1 virus infections as a trigger for narcolepsy. Although the pathological mechanisms are unknown, an H1N1 virus-derived antigen might be the trigger.

  5. Pediatric MS

    MedlinePlus

    ... with Others on MSconnection.org Join a Local Support Group Ask an MS Navigator Edward M. Dowd Personal ... navigate the school system through the Pediatric MS Support Group . Treating pediatric MS Studies have shown that the ...

  6. Mental Health Visits: Examining Socio-demographic and Diagnosis Trends in the Emergency Department by the Pediatric Population.

    PubMed

    Holder, Sharon M; Rogers, Kenneth; Peterson, Eunice; Ochonma, Christian

    2017-03-17

    The emergency department (ED) is increasingly being used for mental health visits by children and adolescents. It is estimated that 21-23% of youth have a diagnosable psychiatric or substance use disorder. Using data from the ED of a tertiary medical center, we examined trends in mental health diagnoses over a 5-year period. In school age children the most prevalent diagnoses were anxiety disorders (28.4%); disorders first usually diagnosed in infancy, childhood, or adolescence (26.5%), and mood disorders (18.6%). High school students were more likely to visit the ED for anxiety disorders (30%). Females (34.5%) presented more for anxiety disorders compared to males (22.7%). Mental health visits and diagnoses were higher during school months (September-May) and lower in the summer months (June-August). The diagnosis trends identified in this study have clinical implications that can contribute to evidence-based restructuring of mental health resources and screenings.

  7. Pediatric Injury

    MedlinePlus

    ... Control and Prevention’s Safe Child website . What is pediatric critical care? Children who have severe or life-threatening injuries ... are staffed by physicians with specialized training in pediatric critical care medicine ("pediatric intensivists"). Because children can experience a ...

  8. Beyond ‘test and treat’ – malaria diagnosis for improved pediatric fever management in sub-Saharan Africa

    PubMed Central

    Johansson, Emily White

    2016-01-01

    Background Malaria rapid diagnostic tests (RDTs) have great potential to improve quality care and rational drug use in malaria-endemic settings although studies have shown common RDT non-compliance. Yet, evidence has largely been derived from limited hospital settings in few countries. This article reviews a PhD thesis that analyzed national surveys from multiple sub-Saharan African countries to generate large-scale evidence of malaria diagnosis practices and its determinants across different contexts. Design A mixed-methods approach was used across four studies that included quantitative analysis of national household and facility surveys conducted in multiple sub-Saharan African countries at the outset of new guidelines (Demographic and Health Surveys and Service Provision Assessments). Qualitative methods were used to explore reasons for quantitative findings in select settings. Results There was low (17%) and inequitable test uptake across 13 countries in 2009–2011/12, with greater testing at hospitals than at peripheral clinics (odds ratio [OR]: 0.62, 95% confidence interval [CI]: 0.56–0.69) or community health workers (OR: 0.31, 95% CI: 0.23–0.43) (Study I). Significant variation was found in the effect of diagnosis on antimalarial use at the population level across countries (Uganda OR: 0.84, 95% CI: 0.66–1.06; Mozambique OR: 3.54, 95% CI: 2.33–5.39) (Study II). A Malawi national facility census indicated common compliance to malaria treatment guidelines (85% clients with RDT-confirmed malaria prescribed first-line treatment), although other fever assessments were not often conducted and there was poor antibiotic targeting (59% clients inappropriately prescribed antibiotics). RDT-negative patients had 16.8 (95% CI: 8.6–32.7) times higher odds of antibiotic overtreatment than RDT-positive patients conditioned by cough or difficult breathing complaints (Study III). In Mbarara (Uganda), health workers reportedly prescribed antimalarials to RDT

  9. 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.

  10. Evaluation of pituitary function in cases with the diagnosis of pediatric mild traumatic brain injury: Cross-sectional study

    PubMed Central

    Aylanç, Hakan; Tütüncüler, Filiz; Süt, Necdet

    2016-01-01

    Background: This study was to determine whether pituitary dysfunction occurs after head trauma in children or not and which axis is affected more; to define the association of pituitary dysfunction with the severity of head trauma and duration time after the diagnosis of head trauma. Materials and Methods: In this study, 24 children who were diagnosed with head trauma were evaluated regarding pituitary dysfunction. In all cases, after 12 h fasting, serum cortisol, fT3, fT4, thyroid-stimulating hormone, prolactin, insulin-like growth factor-1, serum sodium, urine density, follicle-stimulating hormone, luteinizing hormone, in female cases E2, in male cases, TT levels were determined. Results: Mean age of children was 9.5 ± 3.1 years, 14 children (58.3%) had mild, 9 children (37.5%) had moderate, and 1 children (4.2%) had severe head trauma according to the Glasgow coma scale. Mean duration time after head trauma was 29.4 ± 9.8 months. In all cases, no pathologic condition was determined in the pituitary hormonal axis. In one children (4.2%), low basal cortisol level was found. There were no children with hormonal deficiency in this study. Conclusion: Although pituitary dysfunction after head trauma may develop in the early period, some may present in the late period; therefore, all cases should be followed up at outpatient clinics for a longer period. PMID:27695233

  11. 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.

  12. 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

  13. Bladder and bowel dysfunction in children: An update on the diagnosis and treatment of a common, but underdiagnosed pediatric problem

    PubMed Central

    Santos, Joana Dos; Lopes, Roberto I.; Koyle, Martin A.

    2017-01-01

    Bladder and bowel dysfunction (BBD) describes a spectrum of lower urinary symptoms (LUTS) accompanied by fecal elimination issues that manifest primarily by constipation and/or encopresis. This increasingly common entity is a potential cause of significant physical and psychosocial burden for children and families. BBD is commonly associated with vesicoureteral reflux (VUR) and recurrent urinary tract infections (UTIs), which at its extreme may lead to renal scarring and kidney failure. Additionally, BBD is frequently seen in children diagnosed with behavioural and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Patients with concomitant BBD and neuropsychiatric disorders have less favourable treatment outcomes. Early diagnosis and treatment of BBD are critical to avoid secondary comorbidities that can adversely impact children’s kidney and bladder function, and psychosocial well-being. The majority of patients will improve with urotherapy, adequate fluid intake, and constipation treatment. Pharmacological treatment must only be considered if no improvement occurs after intensive adherence to at least six months of urotherapy ± biofeedback and constipation treatment. Anticholinergics remain the mainstay of medical treatment. Selective alpha-blockers appear to be effective for improving bladder emptying in children with non-neurogenic detrusor overactivity (DO), incontinence, recurrent UTIs, and increased post-void residual (PVR) urine volumes. Alpha-1 blockers can also be used in combination with anticholinergics when overactive bladder (OAB) coexists with functional bladder outlet obstruction. Minimally invasive treatment with onabotulinumtoxinA bladder injections, and recently neurostimulation, are promising alternatives for the management of BBD refractory to behavioural and pharmacological treatment. In this review, we discuss clinical presentation, diagnostic approach, and indications

  14. Development of a pediatric palliative care team.

    PubMed

    Ward-Smith, Peggy; Linn, Jill Burris; Korphage, Rebecca M; Christenson, Kathy; Hutto, C J; Hubble, Christopher L

    2007-01-01

    The American Academy of Pediatrics has provided clinical recommendations for palliative care needs of children. This article outlines the steps involved in implementing a pediatric palliative care program in a Midwest pediatric magnet health care facility. The development of a Pediatric Advanced Comfort Care Team was supported by hospital administration and funded through grants. Challenges included the development of collaborative relationships with health care professionals from specialty areas. Pediatric Advanced Comfort Care Team services, available from the time of diagnosis, are provided by a multidisciplinary team of health care professionals and individualized on the basis of needs expressed by each child and his or her family.

  15. 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.

  16. Hypothalamo-pituitary-adrenal axis, glucose metabolism and TNF-α in narcolepsy.

    PubMed

    Maurovich-Horvat, Eszter; Keckeis, Marietta; Lattová, Zuzana; Kemlink, David; Wetter, Thomas-Christian; Schuld, Andreas; Sonka, Karel; Pollmächer, Thomas

    2014-08-01

    Narcolepsy with cataplexy is caused by a deficiency in the production of hypocretin/orexin, which regulates sleep and wakefulness, and also influences appetite, neuroendocrine functions and metabolism. In this case-control study, 11 patients with narcolepsy with cataplexy and 11 healthy adults underwent an oral glucose tolerance test, and dexamethasone suppression/corticotropin-releasing hormone stimulation test. The average age of patients and controls was 35.1 ± 13.2 and 41.0 ± 2.9 years, respectively, body mass index was 28.1 ± 6.6 and 25.5 ± 4.7 kg m(-2) . We did not find evidence of a significantly increased prevalence of disturbed glucose tolerance in patients with narcolepsy. After hypothalamo-pituitary-adrenal axis suppression, the number of non-suppressors did not differ between the groups, indicating normal negative feedback sensitivity. The level of cortisol after dexamethasone suppression was significantly lower in patients with narcolepsy, suggesting a slight basal downregulation and/or a slightly increased negative feedback sensitivity of the major endocrine stress system in narcolepsy. Following corticotropin-releasing hormone stimulation, there were no significant differences in levels of adrenocorticotropic hormone or cortisol, and in adrenocortical responsivity to adrenocorticotropic hormone. Finally, patients with narcolepsy displayed significantly higher plasma levels of tumour necrosis factor alpha, soluble tumour necrosis factor receptor p55, soluble tumour necrosis factor receptor p75 and interleukin 6 after adjustment for body mass index. The present study confirms that narcolepsy by itself is not associated with disturbances of glucose metabolism, but goes along with a subtle dysregulation of inflammatory cytokine production. We also found that dynamic hypothalamo-pituitary-adrenal system response is not altered, whereas negative feedback to dexamethasone might be slightly enhanced.

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

    PubMed

    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.

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

    PubMed Central

    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

  19. 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.

  20. Gray matter atrophy in narcolepsy: An activation likelihood estimation meta-analysis.

    PubMed

    Weng, Hsu-Huei; Chen, Chih-Feng; Tsai, Yuan-Hsiung; Wu, Chih-Ying; Lee, Meng; Lin, Yu-Ching; Yang, Cheng-Ta; Tsai, Ying-Huang; Yang, Chun-Yuh

    2015-12-01

    The authors reviewed the literature on the use of voxel-based morphometry (VBM) in narcolepsy magnetic resonance imaging (MRI) studies via the use of a meta-analysis of neuroimaging to identify concordant and specific structural deficits in patients with narcolepsy as compared with healthy subjects. We used PubMed to retrieve articles published between January 2000 and March 2014. The authors included all VBM research on narcolepsy and compared the findings of the studies by using gray matter volume (GMV) or gray matter concentration (GMC) to index differences in gray matter. Stereotactic data were extracted from 8 VBM studies of 149 narcoleptic patients and 162 control subjects. We applied activation likelihood estimation (ALE) technique and found significant regional gray matter reduction in the bilateral hypothalamus, thalamus, globus pallidus, extending to nucleus accumbens (NAcc) and anterior cingulate cortex (ACC), left mid orbital and rectal gyri (BAs 10 and 11), right inferior frontal gyrus (BA 47), and the right superior temporal gyrus (BA 41) in patients with narcolepsy. The significant gray matter deficits in narcoleptic patients occurred in the bilateral hypothalamus and frontotemporal regions, which may be related to the emotional processing abnormalities and orexin/hypocretin pathway common among populations of patients with narcolepsy.

  1. Low cerebrospinal fluid hypocretin (Orexin) and altered energy homeostasis in human narcolepsy.

    PubMed

    Nishino, S; Ripley, B; Overeem, S; Nevsimalova, S; Lammers, G J; Vankova, J; Okun, M; Rogers, W; Brooks, S; Mignot, E

    2001-09-01

    Hypocretins (orexins) are hypothalamic neuropeptides involved in sleep and energy homeostasis. Hypocretin mutations produce narcolepsy in animal models. In humans, narcolepsy is rarely due to hypocretin mutations, but this system is deficient in the cerebrospinal fluid (CSF) and brain of a small number of patients. A recent study also indicates increased body mass index (BMI) in narcolepsy. The sensitivity of low CSF hypocretin was examined in 38 successive narcolepsy-cataplexy cases [36 human leukocyte antigen (HLA)-DQB1*0602-positive] and 34 matched controls (15 controls and 19 neurological patients). BMI and CSF leptin levels were also measured. Hypocretin-1 was measurable (169 to 376 pg/ml) in all controls. Levels were unaffected by freezing/thawing or prolonged storage and did not display any concentration gradient. Hypocretin-1 was dramatically decreased (<100 pg/ml) in 32 of 38 patients (all HLA-positive). Four patients had normal levels (2 HLA-negative). Two HLA-positive patients had high levels (609 and 637 pg/ml). CSF leptin and adjusted BMI were significantly higher in patients versus controls. We conclude that the hypocretin ligand is deficient in most cases of human narcolepsy, providing possible diagnostic applications. Increased BMI and leptin indicate altered energy homeostasis. Sleep and energy metabolism are likely to be functionally connected through the hypocretin system.

  2. Pharmacologic Therapies for Pediatric Concussions

    PubMed Central

    Halstead, Mark E.

    2016-01-01

    Context: Pediatric concussions are common, and emphasis on correct diagnosis and management is stressed in consensus guidelines. Medications may have a role in management of concussion, but no consensus exists regarding appropriate pharmacologic therapy. Evidence Acquisition: Nonsystematic review. Study Design: Clinical review. Level of Evidence: Level 4. Results: There is limited evidence for hypertonic saline to improve posttraumatic headache in the emergency department setting. There is essentially no evidence for the use of any other medication in management of pediatric sport-related concussion. Conclusion: Further research is necessary to determine whether there is benefit to the use of any pharmacotherapy in the management of pediatric-aged athletes with concussions. PMID:26660460

  3. Pediatric Sepsis.

    PubMed

    Prusakowski, Melanie K; Chen, Audrey P

    2017-02-01

    Pediatric sepsis is distinct from adult sepsis in its definitions, clinical presentations, and management. Recognition of pediatric sepsis is complicated by the various pediatric-specific comorbidities that contribute to its mortality and the age- and development-specific vital sign and clinical parameters that obscure its recognition. This article outlines the clinical presentation and management of sepsis in neonates, infants, and children, and highlights some key populations who require specialized care.

  4. 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

  5. ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

    PubMed

    Faraco, Juliette; Lin, Ling; Kornum, Birgitte Rahbek; Kenny, Eimear E; Trynka, Gosia; Einen, Mali; Rico, Tom J; Lichtner, Peter; Dauvilliers, Yves; Arnulf, Isabelle; Lecendreux, Michel; Javidi, Sirous; Geisler, Peter; Mayer, Geert; Pizza, Fabio; Poli, Francesca; Plazzi, Giuseppe; Overeem, Sebastiaan; Lammers, Gert Jan; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Rouleau, Guy; Desautels, Alex; Montplaisir, Jacques; Frauscher, Birgit; Ehrmann, Laura; Högl, Birgit; Jennum, Poul; Bourgin, Patrice; Peraita-Adrados, Rosa; Iranzo, Alex; Bassetti, Claudio; Chen, Wei-Min; Concannon, Patrick; Thompson, Susan D; Damotte, Vincent; Fontaine, Bertrand; Breban, Maxime; Gieger, Christian; Klopp, Norman; Deloukas, Panos; Wijmenga, Cisca; Hallmayer, Joachim; Onengut-Gumuscu, Suna; Rich, Stephen S; Winkelmann, Juliane; Mignot, Emmanuel

    2013-01-01

    Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H (CTSH) and Tumor necrosis factor (ligand) superfamily member 4 (TNFSF4, also called OX40L), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.

  6. Narcolepsy with hypocretin/orexin deficiency, infections and autoimmunity of the brain.

    PubMed

    Kornum, Birgitte Rahbek; Faraco, Juliette; Mignot, Emmanuel

    2011-12-01

    The loss of hypothalamic hypocretin/orexin (hcrt) producing neurons causes narcolepsy with cataplexy. An autoimmune basis for the disease has long been suspected and recent results have greatly strengthened this hypothesis. Narcolepsy with hcrt deficiency is now known to be associated with a Human Leukocyte Antigen (HLA) and T-cell receptor (TCR) polymorphisms, suggesting that an autoimmune process targets a single peptide unique to hcrt-cells via specific HLA-peptide-TCR interactions. Recent data have shown a robust seasonality of disease onset in children and associations with Streptococcus Pyogenes, and influenza A H1N1-infection and H1N1-vaccination, pointing towards processes such as molecular mimicry or bystander activation as crucial for disease development. We speculate that upper airway infections may be common precipitants of a whole host of CNS autoimmune complications including narcolepsy.

  7. Treatment cost of narcolepsy with cataplexy in Central Europe

    PubMed Central

    Maresova, Petra; Novotny, Michal; Klímová, Blanka; Kuča, Kamil

    2016-01-01

    Background Narcolepsy is a lifelong, rare neurological sleep disorder characterized by chronic, excessive attacks of daytime sleepiness. This disease is often extremely incapacitating, interfering with every aspect of life, in work and social settings. Objective The purpose of this study is to specify the treatment costs of patients in Central Europe (Czech Republic), while the attention is mainly paid to the drugs that were fully or partially covered by public health insurance. Furthermore, concomitant therapy is also evaluated, since it incurs a certain financial burden for patients and their family members. On the basis of the calculated costs, impact on the public budget is evaluated. Patients and methods This study monitors the direct costs of the drugs for 13 patients, who represent ~1.3% of the total number of diagnosed patients in the Czech Republic, and evaluates the costs associated with their treatment during the period from January 9, 2011 to April 23, 2013. Results Most of the treatment costs (~80%) were covered by publicly available sources. This finding is also true for the concomitant therapy of comorbidities. Additional payments for the drugs constitute about 20% of the total costs. PMID:27920540

  8. Narcolepsy Treated with Racemic Amphetamine during Pregnancy and Breastfeeding.

    PubMed

    Öhman, Inger; Wikner, Birgitta Norstedt; Beck, Olof; Sarman, Ihsan

    2015-08-01

    This case report describes a woman with narcolepsy treated with racemic amphetamine (rac-amphetamine) during pregnancy and breastfeeding with follow-up on the infant's development up to 10 months of age. The pregnancy outcome and the pharmacokinetics of rac-amphetamine were studied during breastfeeding. The pregnancy and the delivery were uneventful. Concentrations of rac-amphetamine were determined in the plasma of the mother and infant, and in the breast milk with a liquid chromatography-mass spectrometry method. Samples were obtained at 2, 5, and 9 weeks postpartum. The transfer of rac-amphetamine to the breast milk was extensive (mean milk/maternal plasma concentration ratio approximately 3). The breastfed infant had a low plasma concentration of rac-amphetamine (about 9% of the maternal plasma level) and the calculated relative infant dose was low (2%). No adverse effects were observed in the breastfed infant. The infant's somatic and psychomotor development up to 10 months of age was normal. Further studies of amphetamine prescribed for medical reasons during pregnancy and lactation are needed.

  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.

  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. Virtual Pediatric Hospital

    MedlinePlus

    ... Thoracopaedia - An Imaging Encyclopedia of Pediatric Thoracic Disease Virtual Pediatric Hospital is the Apprentice's Assistant™ Last revised ... pediatric resources: GeneralPediatrics.com | PediatricEducation.org | SearchingPediatrics.com Virtual Pediatric Hospital is curated by Donna M. D' ...

  12. Narcolepsy Type 1 Is Associated with a Systemic Increase and Activation of Regulatory T Cells and with a Systemic Activation of Global T Cells

    PubMed Central

    Pitoiset, Fabien; Regnault, Armelle; Tran, Tu Anh; Liblau, Roland; Klatzmann, David; Rosenzwajg, Michelle

    2017-01-01

    Narcolepsy is a rare neurologic disorder characterized by excessive daytime sleepiness, cataplexy and disturbed nocturnal sleep patterns. Narcolepsy type 1 (NT1) has been shown to result from a selective loss of hypothalamic hypocretin-secreting neurons with patients typically showing low CSF-hypocretin levels (<110 pg/ml). This specific loss of hypocretin and the strong association with the HLA-DQB1*06:02 allele led to the hypothesis that NT1 could be an immune-mediated pathology. Moreover, susceptibility to NT1 has recently been associated with several pathogens, particularly with influenza A H1N1 virus either through infection or vaccination. The goal of this study was to compare peripheral blood immune cell populations in recent onset pediatric NT1 subjects (post or non-post 2009-influenza A H1N1 vaccination) to healthy donors. We demonstrated an increased number of central memory CD4+ T cells (CD62L+ CD45RA-) associated to an activated phenotype (increase in CD69 and CD25 expression) in NT1 patients. Percentage and absolute count of regulatory T cells (Tregs) in NT1 patients were increased associated with an activated phenotype (increase in GITR and LAP expression), and of activated memory phenotype. Cytokine production by CD4+ and CD8+ T cells after activation was not modified in NT1 patients. In H1N1 vaccinated NT1 patients, absolute counts of CD3+, CD8+ T cells, and B cells were increased compared to non-vaccinated NT1 patients. These results support a global T cell activation in NT1 patients and thus support a T cell-mediated autoimmune origin of NT1, but do not demonstrate the pathological role of H1N1 prophylactic vaccination. They should prompt further studies of T cells, particularly of Tregs (such as suppression and proliferation antigen specific assays, and also T-cell receptor sequencing), in NT1. PMID:28107375

  13. Time perception in narcolepsy in comparison to patients with Parkinson's disease and healthy controls - an exploratory study.

    PubMed

    Poryazova, Rositsa; Mensen, Armand; Bislimi, Fatime; Huegli, Gordana; Baumann, Christian R; Khatami, Ramin

    2013-12-01

    The striatum and the prefrontal cortex play an important role in cognitive time processing, and time perception depends on sustained attention. Narcolepsy patients are unable to maintain sustained attention, due probably to deficient hypocretin signalling. Impaired time perception has been found in Parkinson's disease (PD) and attributed to a dysfunctional dopaminergic striatal pacemaker. We aimed to assess time perception in patients with narcolepsy and PD and to compare the outcome to healthy control participants. Seventeen narcolepsy patients, 12 PD patients and 15 healthy controls performed a short time production task, where they had to produce an interval of 1, 2 or 5 s. The accuracy of time production differed significantly according to task target duration, and there was a trend towards a group difference with narcolepsy patients tending to overproduce all target durations. Absolute variability was significantly different between groups, with narcolepsy patients showing higher absolute variability in comparison to controls and PD patients. The analysis of the temporal course of time estimation showed more pronounced overproduction of each target duration at the end of each trial in narcolepsy patients, whereas performance was more or less stable in controls and PD patients. Overproduction and higher variability of all time durations in narcolepsy indicate impaired short interval timing in the seconds range, while the scalar property of timing was preserved. The time-course of accuracy and variability of time production within sessions indicate an attention-related mechanism of impaired interval timing.

  14. 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.

  15. REM-dreams recall in patients with narcolepsy-cataplexy.

    PubMed

    Mazzetti, Michela; Bellucci, Claudia; Mattarozzi, Katia; Plazzi, Giuseppe; Tuozzi, Giovanni; Cipolli, Carlo

    2010-01-15

    An abundant recall of dreams has been observed in clinical studies on patients with narcolepsy-cataplexy (NC), a neurological disorder characterized by an altered sleep architecture. Laboratory studies have shown that dream experiences developed during 1st-rapid eye movement (REM) sleep by NC patients are longer and more complex than those of healthy subjects. To establish whether these features indicate an earlier optimal functioning of the cognitive processes involved in dream generation rather than a more accurate dream recall, we compared the indicators of length and structural organization in reports of REM-dreams collected from 14 NC patients and their matched controls. During an experimental night two awakenings were provoked after 8 min in 1st- and 3rd-REM sleep; participants were asked to report their dream experience (spontaneous report) and then, if possible, further remembered parts of this experience (prompted report). All reports were analyzed using story-grammar rules, which allow us to identify units larger than single contents and describe their story-like organization. While dream recall (about 90%) was comparable in NC patients and controls, 1st-REM spontaneous reports were longer and more complex in NC patients, half of whom also provided prompted reports. After 3rd-REM awakening more than one third of NC patients and controls gave prompted reports, which were fairly comparable in length and complexity with the spontaneous reports. These findings confirm that the cognitive processes underlying dream generation reach their optimal functioning earlier in the night in NC patients than in normal subjects, and raises the question of whether the dream-stories described in spontaneous and prompted reports are part of the same or distinct REM-dreams.

  16. 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…

  17. Hypocretin-1 Levels Associate with Fragmented Sleep in Patients with Narcolepsy Type 1

    PubMed Central

    Alakuijala, Anniina; Sarkanen, Tomi; Partinen, Markku

    2016-01-01

    Study Objectives: We aimed to analyze nocturnal sleep characteristics of patients with narcolepsy type 1 (narcolepsy with cataplexy) measured by actigraphy in respect to cerebrospinal fluid hypocretin-1 levels of the same patients. Methods: Actigraphy recording of 1−2 w and hypocretin-1 concentration analysis were done to thirty-six unmedicated patients, aged 7 to 63 y, 50% female. Twenty-six of them had hypocretin-1 levels under 30 pg/mL and the rest had levels of 31−79 pg/mL. Results: According to actigraphy, patients with very low hypocretin levels had statistically significantly longer sleep latency (P = 0.033) and more fragmented sleep, indicated by both the number of immobile phases of 1 min (P = 0.020) and movement + fragmentation index (P = 0.049). There were no statistically significant differences in the actual sleep time or circadian rhythm parameters measured by actigraphy. Conclusions: Actigraphy gives additional information about the stabilization of sleep in patients with narcolepsy type 1. Very low hypocretin levels associate with more wake intruding into sleep. Citation: Alakuijala A, Sarkanen T, Partinen M. Hypocretin-1 levels associate with fragmented sleep in patients with narcolepsy type 1. SLEEP 2016;39(5):1047–1050. PMID:26856902

  18. 78 FR 43209 - Narcolepsy Public Meeting on Patient-Focused Drug Development

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-19

    ... disorder of the central nervous system caused by the brain's inability to control sleep-wake cycles and is... HUMAN SERVICES Food and Drug Administration Narcolepsy Public Meeting on Patient-Focused Drug Development AGENCY: Food and Drug Administration, HHS. ACTION: Notice of public meeting; request for...

  19. 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

  20. Pediatric Specialists

    MedlinePlus

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

  1. 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.

  2. Cases of Narcolepsy-Cataplexy Syndrome Following H1N1 Vaccination

    PubMed Central

    NALBANTOĞLU, Mecbure; BENBİR, Gülçin; KARADENİZ, Derya; ALTINTAŞ, Ayşe; SAVRAN OĞUZ, Fatma

    2014-01-01

    Narcolepsy-Cataplexy syndrome is a rare sleep disorder related with human leukocyte antigens (HLA-DQB1*0602) caused by the loss of hypothalamic hypocretin/orexin producing neurons. Recently, in European countries, Narcolepsy-Cataplexy syndrome developing following H1N1 vaccination has attracted attention. Our first patient was a 9-year-old boy, who was referred to our clinic with the complaint of daytime sleepiness developed 1.5 month after H1N1 vaccination. After a couple of weeks, weakness of the upper extremities while laughing was added to the clinical picture. He also developed hypnopompic hallucinations and nightmares. Multiple sleep latency test (MSLT) following full-night polysomnography (PSG) showed that the mean sleep latency was 0.6 minutes; and all of the naps had sleep-onset REM periods. Our second patient was a 50 year-oldman, who presented to our clinic complaining of sleep paralysis and REM sleep behavior disorder developed 4 months after H1N1 vaccination. He developed daytime sleepiness 6 months after and cataplexy 8 months after H1N1 vaccination. He was also diagnosed as having Narcolepsy-Cataplexy syndrome upon PSG and MSLT. We investigated HLA-DRB1/ DQB1 locus with Polymerase Chain Reaction-Sequence Specific Primer technique. The first patient had HLA-DQB1*0602.47 and DQB1*03.01 heterozygous loci; and the second patient had HLA-DQB1*0602.47 and DQB1*02.01 heterozygous loci. These patients are the first reported cases of Narcolepsy-Cataplexy syndrome related with H1N1 vaccination in Turkey. Although there is no specific marker, temporal relationship between vaccination and onset of disease symptoms suggests a possible causal relationship. In the presence of an underlying genetic predisposition, it was thought that H1N1 vaccination could trigger Narcolepsy-Cataplexy syndrome.

  3. 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

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

    PubMed

    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

    2014-09-02

    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.

  5. Nucleic acid amplification tests (polymerase chain reaction, ligase chain reaction) for the diagnosis of Chlamydia trachomatis and Neisseria gonorrhoeae in pediatric emergency medicine.

    PubMed

    Corneli, Howard M

    2005-04-01

    Nucleic acid amplification tests, such as ligase chain reaction and polymerase chain reaction, offer potential advantages of speed, simplicity, and accuracy in the detection of genitourinary tract infection with Neisseria gonorrhoeae and Chlamydia trachomatis. Their appropriate use in pediatric emergency medicine depends on an understanding of their strengths and weaknesses. Problems arise in defining the sensitivity and, especially, specificity of these tests. The clinical scenario, the site of infection, the age and sex of the patient, and especially the presence or absence of medicolegal concerns strongly affect the applicability of these tests. The risk of false positives may be significant even when legal concerns do not arise and even if a highly specific test is used. This article reviews the uses and limitations of such tests in pediatric emergency medicine. Discussion is directed to both technical and practical considerations.

  6. miRNA Profiles in Plasma from Patients with Sleep Disorders Reveal Dysregulation of miRNAs in Narcolepsy and Other Central Hypersomnias

    PubMed Central

    Holm, Anja; Bang-Berthelsen, Claus Heiner; Knudsen, Stine; Kornum, Birgitte R.; Modvig, Signe; Jennum, Poul; Gammeltoft, Steen

    2014-01-01

    Study Objectives: MicroRNAs (miRNAs) have been implicated in the pathogenesis of human diseases including neurological disorders. The aim is to address the involvement of miRNAs in the pathophysiology of central hypersomnias including autoimmune narcolepsy with cataplexy and hypocretin deficiency (type 1 narcolepsy), narcolepsy without cataplexy (type 2 narcolepsy), and idiopathic hypersomnia. Design: We conducted high-throughput analysis of miRNA in plasma from three groups of patients—with type 1 narcolepsy, type 2 narcolepsy, and idiopathic hypersomnia, respectively—in comparison with healthy controls using quantitative real-time polymerase chain reaction (qPCR) panels. Setting: University hospital based sleep clinic and research laboratories. Patients: Twelve patients with type 1 narcolepsy, 12 patients with type 2 narcolepsy, 12 patients with idiopathic hypersomnia, and 12 healthy controls. Measurements and Results: By analyzing miRNA in plasma with qPCR we identified 50, 24, and 6 miRNAs that were different in patients with type 1 narcolepsy, type 2 narcolepsy, and idiopathic hypersomnia, respectively, compared with healthy controls. Twenty miRNA candidates who fulfilled the criteria of at least two-fold difference and p-value < 0.05 were selected to validate the miRNA changes in an independent cohort of patients. Four miRNAs differed significantly between type 1 narcolepsy patients and healthy controls. Levels of miR-30c, let-7f, and miR-26a were higher, whereas the level of miR-130a was lower in type 1 narcolepsy than healthy controls. The miRNA differences were not specific for type 1 narcolepsy, since the levels of the four miRNAs were also altered in patients with type 2 narcolepsy and idiopathic hypersomnia compared with healthy controls. Conclusion: The levels of four miRNAs differed in plasma from patients with type 1 narcolepsy, type 2 narcolepsy and idiopathic hypersomnia suggesting that alterations of miRNAs may be involved in the

  7. Pediatric Stroke: A Review

    PubMed Central

    Tsze, Daniel S.; Valente, Jonathan H.

    2011-01-01

    Stroke is relatively rare in children, but can lead to significant morbidity and mortality. Understanding that children with strokes present differently than adults and often present with unique risk factors will optimize outcomes in children. Despite an increased incidence of pediatric stroke, there is often a delay in diagnosis, and cases may still remain under- or misdiagnosed. Clinical presentation will vary based on the child's age, and children will have risk factors for stroke that are less common than in adults. Management strategies in children are extrapolated primarily from adult studies, but with different considerations regarding short-term anticoagulation and guarded recommendations regarding thrombolytics. Although most recommendations for management are extrapolated from adult populations, they still remain useful, in conjunction with pediatric-specific considerations. PMID:22254140

  8. Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population.

    PubMed

    Yamasaki, Maria; Miyagawa, Taku; Toyoda, Hiromi; Khor, Seik-Soon; Koike, Asako; Nitta, Aino; Akiyama, Kumi; Sasaki, Tsukasa; Honda, Yutaka; Honda, Makoto; Tokunaga, Katsushi

    2014-05-01

    In humans, narcolepsy with cataplexy (narcolepsy) is a sleep disorder that is characterized by sleepiness, cataplexy and rapid eye movement (REM) sleep abnormalities. Narcolepsy is caused by a reduction in the number of neurons that produce hypocretin (orexin) neuropeptide. Both genetic and environmental factors contribute to the development of narcolepsy.Rare and large copy number variations (CNVs) reportedly play a role in the etiology of a number of neuropsychiatric disorders. Narcolepsy is considered a neurological disorder; therefore, we sought to investigate any possible association between rare and large CNVs and human narcolepsy. We used DNA microarray data and a CNV detection software application, PennCNV-Affy, to detect CNVs in 426 Japanese narcoleptic patients and 562 healthy individuals. Overall, we found a significant enrichment of rare and large CNVs (frequency ≤1%, size ≥100 kb) in the patients (case-control ratio of CNV count=1.54, P=5.00 × 10(-4)). Next, we extended a region-based association analysis by including CNVs with its size ≥30 kb. Rare and large CNVs in PARK2 region showed a significant association with narcolepsy. Four patients were assessed to carry duplications of the gene region, whereas no controls carried the duplication, which was further confirmed by quantitative PCR assay. This duplication was also found in 2 essential hypersomnia (EHS) patients out of 171 patients. Furthermore, a pathway analysis revealed enrichments of gene disruptions by rare and large CNVs in immune response, acetyltransferase activity, cell cycle regulation and regulation of cell development. This study constitutes the first report on the risk association between multiple rare and large CNVs and the pathogenesis of narcolepsy. In the future, replication studies are needed to confirm the associations.

  9. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency.

    PubMed

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-02-01

    Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy. Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. In our study, rapid eye movement sleep behaviour disorder was diagnosed by the International Classification of Sleep Disorders (2nd edition) criteria in 63 narcolepsy patients with or without cataplexy. Main outcome measures were: rapid eye movement sleep behaviour disorder symptoms; short and long muscle activations per hour rapid eye movement and non-rapid eye movement sleep; and periodic and non-periodic limb movements per hour rapid eye movement and non-rapid eye movement sleep. Outcome variables were analysed in relation to cataplexy and hypocretin deficiency with uni- and multivariate logistic/linear regression models, controlling for possible rapid eye movement sleep behaviour disorder biasing factors (age, gender, disease duration, previous anti-cataplexy medication). Only hypocretin deficiency independently predicted rapid eye movement sleep behaviour disorder symptoms (relative risk = 3.69, P = 0.03), long muscle activations per hour rapid eye movement sleep (ln-coefficient = 0.81, P < 0.01), and short muscle activations per hour rapid eye movement sleep (ln-coefficient = 1.01, P < 0.01). Likewise, periodic limb movements per hour rapid eye movement and non-rapid eye movement sleep were only associated with hypocretin deficiency (P < 0.01). A significant

  10. Narcolepsy and A(H1N1)pdm09 vaccination: shaping the research on the observed signal.

    PubMed

    van der Most, Robbert; Van Mechelen, Marcelle; Destexhe, Eric; Wettendorff, Martine; Hanon, Emmanuel

    2014-01-01

    Epidemiological data from several European countries suggested an increased risk of the chronic sleep disorder narcolepsy following vaccination with Pandemrix(™), an AS03-adjuvanted, pandemic A(H1N1)pdm09 influenza vaccine. Further research to investigate potential associations between Pandemrix™ vaccination, A(H1N1)pdm09 influenza infection and narcolepsy is required. Narcolepsy is most commonly caused by a reduction or absence of hypocretin produced by hypocretin-secreting neurons in the hypothalamus, and is tightly associated with HLA-II DQB1*06:02. Consequently, research focusing on CD4(+) T-cell responses, building on the hypothesis that for disease development, T cells specific for antigen(s) from hypocretin neurons must be activated or reactivated, is considered essential. Therefore, the following key areas of research can be identified, (1) characterization of hypothetical narcolepsy-specific auto-immune CD4(+) T cells, (2) mapping epitopes of such T cells, and (3) evaluating potential mechanisms that would enable such cells to gain access to the hypothalamus. Addressing these questions could further our understanding of the potential links between narcolepsy and A(H1N1)pdm09 vaccination and/or infection. Of particular interest is that any evidence of a mimicry-based mechanism could also explain the association between narcolepsy and A(H1N1)pdm09 influenza infection.

  11. Abdominal emergencies in pediatrics.

    PubMed

    Coca Robinot, D; Liébana de Rojas, C; Aguirre Pascual, E

    2016-05-01

    Abdominal symptoms are among the most common reasons for pediatric emergency department visits, and abdominal pain is the most frequently reported symptom. Thorough history taking and physical examination can often reach the correct diagnosis. Knowing the abdominal conditions that are most common in each age group can help radiologists narrow the differential diagnosis. When imaging tests are indicated, ultrasonography is usually the first-line technique, enabling the diagnosis or adding relevant information with the well-known advantages of this technique. Nowadays, plain-film X-ray studies are reserved for cases in which perforation, bowel obstruction, or foreign body ingestion is suspected. It is also important to remember that abdominal pain can also occur secondary to basal pneumonia. CT is reserved for specific indications and in individual cases, for example, in patients with high clinical suspicion of abdominal disease and inconclusive findings at ultrasonography. We review some of the most common conditions in pediatric emergencies, the different imaging tests indicated in each case, and the imaging signs in each condition.

  12. Passive transfer of narcolepsy: anti-TRIB2 autoantibody positive patient IgG causes hypothalamic orexin neuron loss and sleep attacks in mice.

    PubMed

    Katzav, Aviva; Arango, Maria T; Kivity, Shaye; Tanaka, Susumu; Givaty, Gili; Agmon-Levin, Nancy; Honda, Makoto; Anaya, Juan-Manuel; Chapman, Joab; Shoenfeld, Yehuda

    2013-09-01

    Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness and cataplexy (a sudden weakening of posture muscle tone usually triggered by emotion) caused by the loss of orexin neurons in the hypothalamus. Autoimmune mechanisms are implicated in narcolepsy by increased frequency of specific HLA alleles and the presence of specific autoantibody (anti-Tribbles homolog 2 (TRIB2) antibodies) in the sera of patients with narcolepsy. Presently, we passively transferred narcolepsy to naïve mice by injecting intra-cerebra-ventricularly (ICV) pooled IgG positive for anti-TRIB2 antibodies. Narcolepsy-IgG-injected mice had a loss of the NeuN (neuronal marker), synaptophysin (synaptic marker) and orexin-positive neurons in the lateral hypothalamus area in narcolepsy compared to control-IgG-injected mice and these changes were associated with narcolepsy-like immobility attacks at four weeks post injection and with hyperactivity and long term memory deficits in the staircase and novel object recognition tests. Similar behavioral and cognitive deficits are observed in narcoleptic patients. This is the first report of passive transfer of experimental narcolepsy to naïve mice induced by autoantibodies and supports the autoimmune pathogenesis in narcolepsy.

  13. Narcolepsy and Predictors of Positive MSLTs in the Wisconsin Sleep Cohort

    PubMed Central

    Goldbart, Aviv; Peppard, Paul; Finn, Laurel; Ruoff, Chad M.; Barnet, Jodi; Young, Terry; Mignot, Emmanuel

    2014-01-01

    Study Objectives: To study whether positive multiple sleep latency tests (MSLTs, mean sleep latency [MSL] ≤ 8 minutes, ≥ 2 sleep onset REM sleep periods [SOREMPs]) and/or nocturnal SOREMP (REM sleep latency ≤ 15 minutes during nocturnal polysomonography [NPSG]) are stable traits and can reflect incipient narcolepsy. Design and Setting: Cross-sectional and longitudinal investigation of the Wisconsin Sleep Cohort Study. Participants: Adults (44% females, 30-81 years) underwent NPSG (n = 4,866 in 1,518 subjects), and clinical MSLT (n = 1,135), with 823 having a repeat NPSG-MSLT at 4-year intervals, totaling 1725 NPSG with MSLT studies. Data were analyzed using linear mixed-effects models, and the stability of positive MSLTs was explored using κ statistics. Measurements and Results: Prevalence of a nocturnal SOREMP on a NPSG, of ≥ 2 SOREMPs on the MSLT, of MSL ≤ 8 minutes on the MSLT, and of a positive MSLT (MSL ≤ 8 minutes plus ≥ 2 SOREMPs) were 0.35%, 7.0%, 22%, and 3.4%, respectively. Correlates of a positive MSLT were shift work (OR = 7.8, P = 0.0001) and short sleep (OR = 1.51/h, P = 0.04). Test-retest for these parameters was poor, with κ < 0.2 (n.s.) after excluding shift workers and short sleepers. Excluding shift-work, short sleep, and subjects with negative MSLTs, we found one undiagnosed subject with possible cataplexy (≥ 1/month) and a NPSG SOREMPs; one subject previously diagnosed with narcolepsy without cataplexy with 2 NPSG SOREMPs and a positive MSLT, and two subjects with 2 independently positive MSLTs (66% human leukocyte antigen [HLA] positive). The proportions for narcolepsy with and without cataplexy were 0.07% (95% CI: 0.02-0.37%) and 0.20% (95% CI: 0.07-0.58%), respectively. Conclusions: The diagnostic value of multiple sleep latency tests is strongly altered by shift work and to a lesser extent by chronic sleep deprivation. The prevalence of narcolepsy without cataplexy may be 3-fold higher than that of narcolepsy

  14. 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.

  15. 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

  16. Pediatric cerebral aneurysms.

    PubMed

    Gemmete, Joseph J; Toma, Ahmed K; Davagnanam, Indran; Robertson, Fergus; Brew, Stefan

    2013-11-01

    Childhood intracranial aneurysms differ from those in the adult population in incidence and gender prevalence, cause, location, and clinical presentation. Endovascular treatment of pediatric aneurysms is the suggested approach because it offers both reconstructive and deconstructive techniques and a better clinical outcome compared with surgery; however, the long-term durability of endovascular treatment is still questionable, therefore long-term clinical and imaging follow-up is necessary. The clinical presentation, diagnosis, and treatment of intracranial aneurysms in children are discussed, and data from endovascular treatments are presented.

  17. Development of a Point-of-Care device to quantify serum zinc to aid the diagnosis and follow-up of pediatric septic shock.

    PubMed

    Sukhavasi, Sowmya; Jothimuthu, Pretha; Papautsky, Ian; Beyette, Fred R

    2011-01-01

    In the Unites States Pediatric septic shock is a major health problem with about 42,000 cases per y ear and a mortality rate of about 10% [1]. Studies have indicated that children with pediatric septic shock have demonstrated critically low levels of serum z inc (Zn) and supplementation of Zn is being suggested as a therapeutic strategy. However, to protect patient safety, it is vital that Z n levels be monitored during supplementation to insure the Zn concentration levels remain at or near physiologic normal levels. Currently Atomic Absorption Spectroscopy (AAS) is used to quantify Zn levels in serum samples. Unfortunately, AAS frequently involves sending serum samples to external laboratory facilities which yields measurement turnaround time that range from hours to days. Thus, timely monitoring of Zn levels is critical to preventing over supplementation that could result in critical conditions such as heavy metal (Zn) toxicity. This paper reports on the development of a Point-of-Care device for rap id electrochemical measurement of Zn. The prototype device is able to accurately quantify Zn in serum with a turn-around time of about 30 minutes. The devices is based on a three electrode sensor which uses Anodic stripping voltammetry (ASV) for sensing Zn levels. The ASV electrode sensor is read using a reader that has be en developed using commercially available embedded system components and custom analog circuitry.

  18. Differential diagnosis in hypersomnia.

    PubMed

    Dauvilliers, Yves

    2006-03-01

    Hypersomnia includes a group of disorders in which the primary complaint is excessive daytime sleepiness. Chronic hypersomnia is characterized by at least 3 months of excessive sleepiness prior to diagnosis and may affect 4% to 6% of the population. The severity of daytime sleepiness needs to be quantified by subjective scales (at least the Epworth sleepiness scale) and objective tests such as the multiple sleep latency test. Chronic hypersomnia does not correspond to an individual clinical entity but includes numerous different etiologies of hypersomnia as recently reported in the revised International Classification of Sleep Disorders. This review details most of those disorders, including narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time, recurrent hypersomnia, behaviorally induced insufficient sleep syndrome, hypersomnia due to medical condition, hypersomnia due to drug or substance, hypersomnia not due to a substance or known physiologic condition, and also sleep-related disordered breathing and periodic leg movement disorders.

  19. Myocarditis - pediatric

    MedlinePlus

    ... enable JavaScript. Pediatric myocarditis is inflammation of the heart muscle in an infant or young child. Causes Myocarditis is rare in ... the infection. This can lead to symptoms of heart failure. ... to detect. However, in newborns and infants, symptoms may sometimes appear suddenly. Symptoms may include: ...

  20. 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.

  1. Pediatric Dermatology

    PubMed Central

    McMahon, Patrick

    2017-01-01

    Skin changes are common in children. Common concerns are birthmarks (e.g., hemangiomas and port wine stains), atopic and contact dermatitis, acne, and alopecia areata. The authors review advances in common and not so common skin changes in pediatric patients. PMID:28360970

  2. Pediatric Sinusitis

    MedlinePlus

    ... Your child’s sinuses are not fully developed until late in the teen years. Although small, the maxillary (behind the cheek) and ethmoid (between the eyes) sinuses are present at birth. Unlike in adults, pediatric sinusitis is difficult to ...

  3. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions

    PubMed Central

    Dauvilliers, Y; Baumann, C.; Carlander, B; Bischof, M; Blatter, T; Lecendreux, M; Maly, F; Besset, A; Touchon, J; Billiard, M; Tafti, M; Bassetti, C

    2003-01-01

    Objective: To determine the role of CSF hypocretin-1 in narcolepsy with and without cataplexy, Kleine-Levin syndrome (KLS), idiopathic and other hypersomnias, and several neurological conditions. Patients: 26 narcoleptic patients with cataplexy, 9 narcoleptic patients without cataplexy, 2 patients with abnormal REM-sleep-associated hypersomnia, 7 patients with idiopathic hypersomnia, 2 patients with post-traumatic hypersomnia, 4 patients with KLS, and 88 patients with other neurological disorders. Results: 23 patients with narcolepsy-cataplexy had low CSF hypocretin-1 levels, while one patient had a normal hypocretin level (HLA-DQB1*0602 negative) and the other two had intermediate levels (familial forms). One narcoleptic patient without cataplexy had a low hypocretin level. One patient affected with post-traumatic hypersomnia had intermediate hypocretin levels. The KLS patients had normal hypocretin levels while asymptomatic, but one KLS patient (also affected with Prader-Willi syndrome) showed a twofold decrease in hypocretin levels during a symptomatic episode. Among the patients without hypersomnia, two patients with normal pressure hydrocephalus and one with unclear central vertigo had intermediate levels. Conclusion: Low CSF hypocretin-1 is highly specific (99.1%) and sensitive (88.5%) for narcolepsy with cataplexy. Hypocretin ligand deficiency appears not to be the major cause for other hypersomnias, with a possible continuum in the pathophysiology of narcolepsy without cataplexy and idiopathic hypersomnia. However, partial hypocretin lesions without low CSF hypocretin-1 consequences cannot be definitely excluded in those disorders. The existence of normal hypocretin levels in narcoleptic patients and intermediate levels in other rare aetiologies needs further investigation, especially for KLS, to establish the functional significance of hypocretin neurotransmission alterations. PMID:14638887

  4. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

    PubMed

    Winkelmann, Juliane; Lin, Ling; Schormair, Barbara; Kornum, Birgitte R; Faraco, Juliette; Plazzi, Giuseppe; Melberg, Atle; Cornelio, Ferdinando; Urban, Alexander E; Pizza, Fabio; Poli, Francesca; Grubert, Fabian; Wieland, Thomas; Graf, Elisabeth; Hallmayer, Joachim; Strom, Tim M; Mignot, Emmanuel

    2012-05-15

    Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the ADCA-DN phenotype, in two other kindreds. An additional ADCA-DN kindred with a p.GLY605Ala mutation was subsequently identified. Narcolepsy and deafness were the first symptoms to appear in all pedigrees, followed by ataxia. DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21 and in very close spatial proximity, suggesting distinct phenotypes depending on mutation location within this gene.

  5. CSF beta-amyloid levels are altered in narcolepsy: a link with the inflammatory hypothesis?

    PubMed

    Liguori, Claudio; Placidi, Fabio; Albanese, Maria; Nuccetelli, Marzia; Izzi, Francesca; Marciani, Maria Grazia; Mercuri, Nicola Biagio; Bernardini, Sergio; Romigi, Andrea

    2014-08-01

    Narcolepsy is characterized by hypocretin deficiency due to the loss of hypothalamic orexinergic neurons, and is associated with both the human leucocyte antigen DQB1*06:02 and the T cell receptor polymorphism. The above relationship suggests autoimmune/inflammatory processes underlying the loss of orexinergic neurons in narcolepsy. To test the autoimmune/inflammatory hypothesis by means of cerebrospinal fluid (CSF) levels of beta-amyloid1-42 and/or total tau proteins in a sample of narcoleptic patients, we analysed 16 narcoleptic patients and 16 healthy controls. Beta-amyloid1-42 CSF levels were significantly lower in narcoleptic patients compared with healthy controls. We also documented pathologically low levels of CSF beta-amyloid1-42 (<500 pg mL(-1) ) in six of 16 narcoleptic patients (37.5%). We hypothesize that the significant decrease of the CSF beta-amyloid1-42 levels in narcoleptic patients may support both the inflammatory/autoimmune hypothesis as the basis of the pathogenesis of narcolepsy and the prevalence of an 'amyloidogenic' pathway caused by the deficiency of the alpha-secretases enzymes.

  6. Potentiation of a functional autoantibody in narcolepsy by a cholinesterase inhibitor.

    PubMed

    Jackson, Michael W; Spencer, Nicolas J; Reed, Joanne H; Smith, Anthony J F; Gordon, Tom P

    2009-12-01

    We have recently reported the presence of an immunoglobulin G (IgG) autoantibody (Ab) in patients with narcolepsy with cataplexy that abolishes spontaneous colonic migrating motor complexes (CMMCs) and increases smooth muscle tension and atropine-sensitive phasic contractions in a physiological assay of an isolated colon. In this study, we used the cholinesterase inhibitor, neostigmine, to explore the mechanism of the narcoleptic IgG-mediated disruption of enteric motor function in four patients with narcolepsy with cataplexy and to identify a pharmacological mimic of the Ab. Neostigmine potentiated the narcoleptic IgG-mediated increase in smooth muscle resting tension and phasic smooth muscle contractions by an atropine-sensitive mechanism but exerted no effect on resting tension in the presence of control IgG. Decreased frequency of CMMCs mediated by IgG with anti-M3R activity was reversed by neostigmine. Therefore, a challenge with a cholinesterase inhibitor improves the specificity of the CMMC assay for narcoleptic IgG. Tetrodotoxin (TTX), a neuronal sodium channel blocker, also abolished CMMCs and increased resting tone, and a similar potentiation was observed with neostigmine; thus, TTX is a mimic of the functional effects of the narcoleptic IgG in this bioassay. These findings provide a link to pharmacological studies of canine narcolepsy and are consistent with a functional blockade of both excitatory and inhibitory motor neurons by the narcoleptic Ab, similar to the TTX mimic, presumably by binding to an autoantigenic target expressed in both populations of neurons.

  7. 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.

  8. Pediatric papillary thyroid cancer: current management challenges

    PubMed Central

    Verburg, Frederik A; Van Santen, Hanneke M; Luster, Markus

    2017-01-01

    Although with a standardized incidence of 0.54 cases per 100,000 persons, differentiated thyroid cancer (DTC) is a rare disease in children and adolescents, it nonetheless concerns ~1.4% of all pediatric malignancies. Furthermore, its incidence is rising. Due to the rarity and long survival of pediatric DTC patients, in most areas of treatment little evidence exists. Treatment of pediatric DTC is therefore littered with controversies, many questions therefore remain open regarding the optimal management of pediatric papillary thyroid cancer (PTC), and many challenges remain unsolved. In the present review, we aim to provide an overview of these challenging areas of patient and disease management in pediatric PTC patients. Data on diagnosis, surgery, radionuclide, and endocrine therapy are discussed, and the controversies therein are highlighted. PMID:28096684

  9. 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 ...

  10. Children's (Pediatric) Nuclear Medicine

    MedlinePlus Videos and Cool Tools

    ... Professions Site Index A-Z Children's (Pediatric) Nuclear Medicine Children’s (pediatric) nuclear medicine imaging uses small amounts ... Children's Nuclear Medicine? What is Children's (Pediatric) Nuclear Medicine? Nuclear medicine is a branch of medical imaging ...

  11. 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.

  12. HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency

    PubMed Central

    Han, Fang; Lin, Ling; Schormair, Barbara; Pizza, Fabio; Plazzi, Giuseppe; Ollila, Hanna M.; Nevsimalova, Sona; Jennum, Poul; Knudsen, Stine; Winkelmann, Juliane; Coquillard, Cristin; Babrzadeh, Farbod; Strom, Tim M.; Wang, Chunlin; Mindrinos, Michael; Vina, Marcelo Fernandez; Mignot, Emmanuel

    2014-01-01

    Study Objectives: To identify rare allelic variants and HLA alleles in narcolepsy patients with hypocretin (orexin, HCRT) deficiency but lacking DQB1*06:02. Settings: China (Peking University People's Hospital), Czech Republic (Charles University), Denmark (Golstrup Hospital), Italy (University of Bologna), Korea (Catholic University), and USA (Stanford University). Design: CSF hypocretin-1, DQB1*06:02, clinical and polysomnographic data were collected in narcolepsy patients (552 with and 144 without cataplexy) from 6 sites. Numbers of cases with and without DQB1*06:02 and low CSF hypocretin-1 were compiled. HLA class I (A, B, C), class II (DRBs, DQA1, DQB1, DPA1, and DPB1), and whole exome sequencing were conducted in 9 DQB1*06:02 negative cases with low CSF hypocretin-1. Sanger sequencing of selected exons in DNMT1, HCRT, and MOG was performed to exclude mutations in known narcolepsy-associated genes. Measurements and Results: Classic narcolepsy markers DQB1*06:02 and low CSF hypocretin-1 were found in 87.4% of cases with cataplexy, and in 20.0% without cataplexy. Nine cases (all with cataplexy) were DQB1*06:02 negative with low CSF hypocretin-1, constituting 1.7% [0.8%-3.4%] of all cases with cataplexy and 1.8% [0.8%-3.4%] of cases with low CSF hypocretin independent of cataplexy across sites. Five HLA negative subjects had severe cataplexy, often occurring without clear triggers. Subjects had diverse ethnic backgrounds and HLA alleles at all loci, suggesting no single secondary HLA association. The rare subtype DPB1*0901, and homologous DPB1*10:01 subtype, were present in 5 subjects, suggesting a secondary association with HLA-DP. Preprohypocretin sequencing revealed no mutations beyond one previously reported in a very early onset case. No new MOG or DNMT1 mutations were found, nor were suspicious or private variants in novel genes identified through exome sequencing. Conclusions: Hypocretin, MOG, or DNMT1 mutations are exceptional findings in DQB1

  13. Diagnostic criteria for pediatric multiple sclerosis.

    PubMed

    Rubin, Jennifer P; Kuntz, Nancy L

    2013-06-01

    An estimated 2 % to 5 % of all persons with multiple sclerosis (MS) have onset of symptoms before 16 years of age Krupp and Hertz (Neurology 68(Suppl 2), 2007). As in adults, the diagnosis of pediatric MS is a clinical one, requiring recurrent episodes of CNS demyelination with supportive paraclinical data (MRI findings, CSF characteristics) in the absence of another plausible diagnosis. The differential diagnosis is broad and, the more atypical the case and the younger the child, the more consideration is necessary before making a diagnosis of MS. MS must be differentiated from acute disseminated encephalomyelitis (ADEM) or neuromyelitis optica (NMO). After initial presentation with a CNS demyelinating event or clinically isolated syndrome (CIS), children can meet the diagnostic criteria for MS if serial changes are noted on MRI and other disorders are excluded. Accurate diagnosis of pediatric MS is critical because of the implications of the diagnosis, including the need for long-term disease modifying therapy.

  14. Biomarkers in pediatrics: children as biomarker orphans.

    PubMed

    Savage, William J; Everett, Allen D

    2010-12-01

    Biomarkers have enormous potential to improve patient care by establishing tests of diagnosis, prognosis, and treatment effects. Successfully translating a biomarker from discovery to clinical application demands high-quality discovery research and high-quality clinical studies for biomarker validation; however, there are additional challenges that face biomarker research in pediatrics. There are also additional characteristics of pediatric medicine that make biomarker research especially needed. This review focuses on the fundamentals of biomarkers, the additional considerations needed for applying biomarker research to children, and recommendations for advancing pediatric biomarker research.

  15. Clinically relevant pharmacogenomic testing in pediatric practice.

    PubMed

    Korbel, Lindsey; George, Mathew; Kitzmiller, Joseph

    2014-08-01

    Clinicians and patients continue to convey interest in personalized medicine. The objective of personalized medicine is to improve healthcare by tailoring disease prevention, diagnosis, and treatment strategies for individuals based on their unique clinical history and genetic composition. This article offers an overview of pharmacogenomics, discusses caveats specific to pharmacogenomics in pediatric populations, provides evidence-based recommendations for pediatric clinicians, and offers insight regarding the future role of pharmacogenomics testing in pediatric medicine. Reviews of the current literature and thoughtful discussions are presented regarding the pharmacogenomics of antidepressants, codeine and oncologic, asthma, and immunomodulatory pharmacotherapies.

  16. Pediatric tracheostomy.

    PubMed

    Campisi, Paolo; Forte, Vito

    2016-06-01

    Tracheotomy refers to a surgical incision made into a trachea. Tracheostomy, on the other hand, refers to a surgical procedure whereby the tracheal lumen is positioned in close proximity to the skin surface. Tracheostomy is an uncommon procedure in the pediatric population. When required tracheostomy is typically performed as an open surgical procedure under general anesthesia with the patient intubated. However, it may need to be performed under local anesthesia or over a rigid bronchoscope in the patient with a precarious airway. Over the past half century, the primary indication for pediatric tracheostomy has shifted from acute infectious airway compromise to the need for prolonged ventilatory support in neurologically compromised children. The surgical technique, choice of tracheostomy tube, and post-operative care requires a nuanced approach in infants and young children. This article will review these topics in a comprehensive fashion.

  17. Pediatric parasomnias.

    PubMed

    Mason, Thornton B A; Pack, Allan I

    2007-02-01

    Parasomnias in childhood are common, and often more frequent than in adults. The large number of parasomnias underscore that sleep is not simply a quiescent state, but can involve complex episodes of movement, ranging from subtle to dramatic and complex. Clinicians should be aware that many pediatric parasomnias are benign, self-limited, and may not persist into late childhood or adolescence. Importantly, parasomnias in childhood often differ in type from adults. Nevertheless, parasomnias across ages can be classified as: 1) disorders of arousal (from non-rapid eye movement, or NREM, sleep); 2) parasomnias usually associated with REM sleep; and 3) other parasomnias. We detail here issues in the clinical diagosis, evaluation, and management of multiple pediatric parasomnias. The further study of parasomnias in children may help elucidate the multi-factorial etiologies of these fascinating conditions, shedding light on the potential genetic bases as well as environmental contributions.

  18. 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…

  19. Pediatric stridor.

    PubMed

    Ida, Jonathan B; Thompson, Dana Mara

    2014-10-01

    Pediatric stridor is an important symptom of upper airway obstruction, and must be recognized early by evaluating physicians. Proper evaluation and management, both acutely and chronically, can provide improved outcomes and better quality of life for patients. This article discusses the physiology of stridor and its intimate relation to airway anatomy, the work-up of the stridorous child, and recent advances in treatment, and provides illustrative examples of common lesions.

  20. 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.

  1. 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

  2. Conditional ablation of orexin/hypocretin neurons: a new mouse model for the study of narcolepsy and orexin system function.

    PubMed

    Tabuchi, Sawako; Tsunematsu, Tomomi; Black, Sarah W; Tominaga, Makoto; Maruyama, Megumi; Takagi, Kazuyo; Minokoshi, Yasuhiko; Sakurai, Takeshi; Kilduff, Thomas S; Yamanaka, Akihiro

    2014-05-07

    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.

  3. 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

  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. Imaging of pediatric neck masses.

    PubMed

    Friedman, Elliott R; John, Susan D

    2011-07-01

    Palpable neck masses are a common indication for pediatric imaging. Such lesions may be caused by infectious, inflammatory, tumoral, traumatic, lymphovascular, immunologic, or congenital etiologies. Radiological assessment of neck masses in young children should be tailored based on patient presentation and physical examination, as well as clinical suspicion. The goal of imaging should be to help arrive at a diagnosis or limited differential in an efficient manner while minimizing radiation exposure.

  6. Imaging spectrum of pediatric corpus callosal pathology: a pictorial review.

    PubMed

    Hyun Yoo, Jeong; Hunter, Jill

    2013-04-01

    A wide spectrum of pediatric corpus callosal diseases can occur in the pediatric age group. Cross-sectional magnetic resonance imaging plays an important role in the diagnosis of these patients. We reviewed our imaging record and collected cases of corpus callosal pathology. The purpose of this review is to illustrate the imaging features of various corpus callosal lesions encountered in children.

  7. Pediatric vitiligo.

    PubMed

    Silverberg, Nanette B

    2014-04-01

    Vitiligo is a disease of pigment loss. Most investigators currently consider vitiligo to be a disorder that occurs as a result of autoimmune destruction of melanocytes, supported by identification of antimelanocyte antibodies in many patients, and the presence of comorbid autoimmune disease in patients with and family members of individuals with vitiligo. One-half of vitiligo cases are of childhood onset. This article presents a current overview of pediatric vitiligo including comorbidities of general health, psychological factors, therapeutic options, and long-term health considerations.

  8. Pediatric Appendicitis.

    PubMed

    Rentea, Rebecca M; St Peter, Shawn D

    2017-02-01

    Appendicitis is one of the most common surgical pathologies in children. It can present with right lower quadrant pain. Scoring systems in combination with selective imaging and surgical examination will diagnose most children with appendicitis. Clinical pathways should be used. Most surgical interventions for appendicitis are now almost exclusively laparoscopic, with trials demonstrating better outcomes for children who undergo index hospitalization appendectomies when perforated. Nonoperative management has a role in the treatment of both uncomplicated and complicated appendicitis. This article discusses the workup and management, modes of treatment, and continued areas of controversy in pediatric appendicitis.

  9. Pediatric urticaria.

    PubMed

    Tsakok, Teresa; Du Toit, George; Flohr, Carsten

    2014-02-01

    Although urticaria is not a life-threatening disease, its impact on quality of life in children should not be overlooked. A systematic search of online databases, including Medline, was performed to inform a review aiming to equip clinicians with an evidence-based approach to all aspects of pediatric urticaria. This review hinges on an illustrative case and includes a summary table of studies pertaining to disease management in children. The multiple issues faced by patients, their families, and treating clinicians are highlighted, and the current literature on the presentation, natural history, investigation, and management of this poorly understood condition is assessed.

  10. Pediatric vasculitis.

    PubMed

    Weiss, Pamela F

    2012-04-01

    Childhood vasculitis is a challenging and complex group of conditions that are multisystem in nature and often require integrated care from multiple subspecialties, including rheumatology, dermatology, cardiology, nephrology, neurology, and gastroenterology. Vasculitis is defined as the presence of inflammation in the blood vessel wall. The site of vessel involvement, size of the affected vessels, extent of vascular injury, and underlying pathology determine the disease phenotype and severity. This article explores the classification and general features of pediatric vasculitis, as well as the clinical presentation, diagnostic evaluation, and therapeutic options for the most common vasculitides.

  11. Immunohistochemical screening for antibodies in recent onset type 1 narcolepsy and after H1N1 vaccination.

    PubMed

    van der Heide, Astrid; Hegeman-Kleinn, Ingrid M; Peeters, Els; Lammers, Gert J; Fronczek, Rolf

    2015-06-15

    Narcolepsy type 1 patients typically have undetectable hypocretin-1 levels in the cerebrospinal fluid (CSF), as a result of a selective loss of the hypocretin containing neurons in the hypothalamus. An autoimmune attack targeting hypothalamic hypocretin (orexin) neurons is hypothesised. So far, no direct evidence for an autoimmune attack was found. One of the major limitations of previous studies was that none included patients close to disease onset. We screened serum of 21 narcolepsy type 1 patients close to disease onset (median 11 months), including 8 H1N1 vaccinated patients, for antibodies against hypocretin neurons using immunohistochemistry. No autoantibodies against hypocretin neurons could be detected.

  12. How Well Do All Patient Refined–Diagnosis-Related Groups Explain Costs of Pediatric Cancer Chemotherapy Admissions in the United States?

    PubMed Central

    Street, Andrew; Ho, Vivian

    2016-01-01

    Purpose: State-based Medicaid programs have begun using All Patient Refined–Diagnosis-Related Groups (APR-DRGs) to determine hospital reimbursement rates. Medicaid provides coverage for 45% of childhood cancer admissions. This study aimed to examine how well APR-DRGs reflect admission costs for childhood cancer chemotherapy to inform clinicians, hospitals, and policymakers in the wake of policy changes. Methods: We identified 25,613 chemotherapy admissions in the 2009 Kids’ Inpatient Database. To determine how well APR-DRGs explain costs, we applied a hierarchic linear regression model of hospital costs, allowing for a variety of patient, hospital, and geographic confounders. Results: APR-DRGs proved to be the most important predictors of admission costs (P < .001), with costs increasing by DRG severity code. Diagnosis, age, and hospital characteristics also predicted costs above and beyond those explained by APR-DRGs. Compared with admissions for patients with acute lymphoblastic leukemia, costs of admissions for patients with acute myelomonocytic leukemia were 82% higher; non-Hodgkin lymphoma, 20% higher; Hodgkin lymphoma, 25% lower; and CNS tumors, 27% lower. Admissions for children who were 10 years of age or older cost 26% to 35% more than admissions for infants. Admissions to children’s hospitals cost 46% more than admissions to other hospital types. Conclusion: APR-DRGs developed for adults are applicable to childhood cancer chemotherapy but should be refined to account for cancer diagnosis and patient age. Possible policy and clinical management changes merit further study to address factors not captured by APR-DRGs. PMID:27118158

  13. The role of high-resolution chest CT in the diagnosis of neuroendocrine cell hyperplasia of infancy - A rare form of pediatric interstitial lung disease.

    PubMed

    Lee, Julia; Sanchez, Thomas Ray; Zhang, Yanhong; Jhawar, Sanjay

    2015-01-01

    Interstitial lung disease (ILD) is rare in infancy or early childhood. Differentiating between the different types of ILD is important for reasons of treatment, monitoring of clinical course and prognosis. We present a case of a 5-month old female with tachypnea and hypoxemia. The clinical suspicion of neuroendocrine cell hyperplasia of infancy (NEHI) was confirmed by high-resolution chest CT and subsequent lung biopsy. We conclude that high-resolution chest CT has characteristics findings that can be used as a non-invasive test to support the clinical diagnosis of neuroendocrine cell hyperplasia of infancy.

  14. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

    PubMed

    Moghadam, Keivan Kaveh; Pizza, Fabio; La Morgia, Chiara; Franceschini, Christian; Tonon, Caterina; Lodi, Raffaele; Barboni, Piero; Seri, Marco; Ferrari, Simona; Liguori, Rocco; Donadio, Vincenzo; Parchi, Piero; Cornelio, Ferdinando; Inzitari, Domenico; Mignarri, Andrea; Capocchi, Giuseppe; Dotti, Maria Teresa; Winkelmann, Juliane; Lin, Ling; Mignot, Emmanuel; Carelli, Valerio; Plazzi, Giuseppe

    2014-06-01

    We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). Patients underwent genetic analysis of DNMT1 gene, neurophysiological tests investigating sleep, auditory functions and peripheral nervous system, ophthalmological studies including optical coherence tomography, lymphoscintigraphy, brain magnetic resonance and nuclear imaging, cerebrospinal fluid hypocretin-1, total tau, phosphorylated tau, amyloid-β1-42 and 14-3-3 proteins measurement, skin, muscular and sural nerve biopsies. Exome and direct sequencing studies disclosed two different point mutations affecting exon 21 of DNMT1 gene in patients with ADCA-DN, a novel heterozygous point mutation in exon 20 in two affected HSAN IE siblings, and a trinucleotide deletion in exon 20 in the latter patient with HSAN IE. Phenotypic characterization pinpoints that ADCA-DN and HSAN IE represent two discrete clinical entities belonging to the same disease spectrum, with variable degree of overlap. Remarkably, narcolepsy with or without cataplexy with low/intermediate or normal cerebrospinal fluid hypocretin-1 is present in both diseases. The human leukocyte antigen DQB1*06:02 was absent in all patients. Other common symptoms and features observed in our cases, involving the central and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HSAN IE-large and small fibres polyneuropathy and lower limbs oedema. Overall, the two syndromes share more characteristics than previously recognized and narcolepsy is common to both. HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy.

  15. 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…

  16. 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.

  17. Pediatric Stroke

    MedlinePlus

    ... News About Neurology Image Library Search The Internet Stroke Center Patients & Families About Stroke Stroke Diagnosis Stroke ... communicate with your child’s doctor. Symptoms of a Stroke Stroke is an injury to part of the ...

  18. 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

  19. 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.

  20. 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

    2013-11-01

    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

  1. The effect of intranasal orexin-A (hypocretin-1) on sleep, wakefulness and attention in narcolepsy with cataplexy.

    PubMed

    Weinhold, Sara Lena; Seeck-Hirschner, Mareen; Nowak, Alexander; Hallschmid, Manfred; Göder, Robert; Baier, Paul Christian

    2014-04-01

    Narcolepsy with cataplexy is a sleep dysregulation disorder with alterations of REM sleep, i.e., sleep onset REM periods and REM sleep instability. Deficient orexin-A (hypocretin-1) signaling is assumed to be a major cause of narcolepsy with cataplexy. In this study we investigated fourteen subjects with narcolepsy with cataplexy in a within-subject, random-order crossover, placebo-controlled design. Patients received double-blinded intranasal orexin-A (435 nmol) or sterile water (placebo) in the morning. Administration was preceded by an adaptation night and followed by a modified maintenance of wakefulness test, attention testing and a second full night of polysomnographic recording. We found comparable sleep behavior during the adaptation nights between both conditions. After orexin-A administration patients had less wake-REM sleep transitions and a decreased REM sleep duration. In the subsequent night, patients showed an increased N2 duration. In the test of divided attention, patients had fewer false reactions after orexin-A administration. Our results support orexin-A to be a REM sleep stabilizing factor and provide functional signs for effects of orexin-A on sleep alterations and attention in narcolepsy with cataplexy.

  2. 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.

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

    PubMed Central

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

    2015-01-01

    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

  4. Neuropeptides as possible targets in sleep disorders: special emphasis on hypocretin-deficient narcolepsy.

    PubMed

    Fujiki, Nobuhiro; Nishino, Seiji

    2007-02-01

    Sleep disorders are disturbances of usual sleep patterns or behaviors caused by deregulation of neuronal synchronicity and of the balance of the neurotransmitter system involved in sleep regulation. Insomnia and hypersomnia are frequent sleep disorders, and these are most often treated pharmacologically with hypnotics and wake-promoting compounds. These compounds act on classical neurotransmitter systems, such as benzodiazepines on gamma amino butyric acid (GABA)(A) receptors, and amphetamine-like stimulants on monoaminergic terminals to modulate neurotransmission. In addition, acetylcholine, amino acids, lipids and proteins (cytokines) and peptides, are known to significantly modulate sleep, and thus, are possibly involved in the pathophysiology of some sleep disorders. Due to recent developments in molecular biological techniques, many neuropeptides have been newly identified, and some are found to significantly modulate sleep. Recent discoveries also include the finding that the impairment of hypocretin/orexin neurotransmission (a recently isolated hypothalamic neuropeptide and receptor system), is the major pathophysiology of narcolepsy with cataplexy. A hypocretin replacement therapy is anticipated to reverse the disease symptoms in humans. In this article, we will review the history of neuropeptide research, sleep modulatory effects of various neuropeptides, and the general strategies for the pharmacological therapeutics targeting the peptidergic systems by referring to hypocretin-deficient narcolepsy as an immediate example.

  5. 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

  6. Pediatric multiple sclerosis: detection of clinically silent lesions by multimodal evoked potentials.

    PubMed

    Pohl, Daniela; Rostasy, Kevin; Treiber-Held, Stephanie; Brockmann, Knut; Gärtner, Jutta; Hanefeld, Folker

    2006-07-01

    Pediatric patients with multiple sclerosis (MS) frequently do not meet MRI criteria for diagnosis because of lack of evidence of dissemination in space. We assessed the diagnostic utility of multimodal evoked potentials (EP). In 46% of 85 childhood patients with MS, spatial dissemination was detected by EP before the second clinical attack. EP may constitute an important tool for earlier diagnosis of pediatric MS.

  7. 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…

  8. 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.

  9. [What's new in pediatric cardiology?].

    PubMed

    Bonnet, D; Sidi, D

    1999-07-01

    In recent years, close collaborations have been established between pediatric cardiology, medical and molecular genetics, fetal cardiology and pediatric radiology. As a consequence, several congenital heart defects and syndromes including cardiovascular malformations have been related to microdeletions such as 22q11 in Di George syndrome and 7q in Williams syndrome. Prenatal detection of heart malformations has become a crucial part of the management of life-threatening malformations of the neonate such as the transposition of the great arteries or the coarctation of the aorta. We are at the dawn of a new era of the development of preventive cardiovascular medicine starting from childhood thanks to new techniques of echo-tracking. Finally, three-dimensional reconstruction of heart defects by using ultrasound, X-ray or MRI have dramatically improved the diagnosis and the therapeutic strategies of cardiac diseases.

  10. 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.

  11. AB123. Carrier screening and prenatal diagnosis for α- and β-thalassemia in pregnancies at risk in National Hospital of Pediatrics, Vietnam

    PubMed Central

    Ngo, Diem Ngoc; Ly, Thi Thanh Ha; Ngo, Thi Tuyet Nhung; Nguyen, Thi Phuong Mai; Tran, Thi Hong Ha; Duong, Ba Truc; Tran, Danh Cuong; Le, Thi Thanh Thuy; Lê, Thanh Hai; Tran, Thi Thanh Huong

    2015-01-01

    Background Thalassaemia is the most common hereditary disease in Southeast Asia. In Vietnam, the carrier rate for β-thalassemia varies from 1.5% to 25% depending on the ethnic groups of the population. Objective To evaluate the effectiveness of the first screening program for control of α- and β-thalassemia in a group of high-risk pregnancy patients who attended our clinic from January 2012 to April 2015. Methods The identification of pregnancies at risk was done retrospectively and prospectively. A total of 944 women with reduced levels of mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) were referred to the Human Genetics Department where, together with their husbands, were screened using standard protocols. If both members of the couple were positive for these markers, then determination of the thalassemia carrier status by DNA analysis was considered and the pregnancy was considered at risk. Results Out of the 944 couples tested, 754 pregnant women and 385 husbands were positive. Among the 754 women, 493 (65.3%) were α-thal carriers; 204 (27.1%) β-thal carriers; 40 (5.3%) α- and β-thal carriers and 17 (2.2%) were positive for hemoglobin H disease (HbH). Among the men, 300 (77.9%) were α-thal carriers, 37 (9.6%) β-thal carriers; 37 (9.6%) α- and β-thal carriers and 11 (2.9%) were positive for HbH disease. In total, we identified 508 couples at risk, 306 prospectively (284/306 homozygous α0-thal, 19/306 β-thal, 3/306 both α0-β-thal) and 202 retrospectively (166/202 β-thal, 36/202 HbH disease). After genetic counseling, prenatal diagnosis by fetal DNA analysis was performed on 312/508 (61.5%) couples including 91 pregnancies at risk for homozygous α0-thal, 36 at risk for HbH disease, and 185 at risk for β-thal major.

  12. Pediatric Brain Tumor Foundation

    MedlinePlus

    ... you insights into your child's treatment. LEARN MORE Brain tumors and their treatment can be deadly so ... Pediatric Brain Tumor Foundation Board Read more >> Pediatric Brain Tumor Foundation 302 Ridgefield Court, Asheville, NC 28806 ...

  13. Pediatric Celiac Disease

    MedlinePlus

    ... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming ...

  14. Find a Pediatric Dentist

    MedlinePlus

    ... Litch's Law Log HIPAA Forms Practice Management and Marketing Newsletter Webinar Materials Member Resources 2017 General Assembly ... Archives Access Pediatric Dentistry Today Practice Management and Marketing Newsletter Pediatric Dentistry Journal Open Access Articles Policies & ...

  15. Pediatric Thyroid Cancer

    MedlinePlus

    ... Marketplace Find an ENT Doctor Near You Pediatric Thyroid Cancer Pediatric Thyroid Cancer Patient Health Information News media ... and neck issues, should be consulted. Types of thyroid cancer in children: Papillary : This form of thyroid cancer ...

  16. 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.

  17. Nuances in pediatric trauma.

    PubMed

    Kenefake, Mary Ella; Swarm, Matthew; Walthall, Jennifer

    2013-08-01

    Pediatric trauma evaluation mimics adult stabilization in that it is best accomplished with a focused and systematic approach. Attention to developmental differences, anatomic and physiologic nuances, and patterns of injury equip emergency physicians to stabilize and manage pediatric injury.

  18. 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.

  19. Pediatric electrocardiographic imaging applications.

    PubMed

    Silva, Jennifer N A

    2015-03-01

    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 preexcitation, (3) ECGI in pediatric patients with Wolff–Parkinson–White syndrome, and (4) ECGI for pediatric cardiac resynchronization therapy.

  20. NASPGHAN Clinical Practice Guideline for the Diagnosis and Treatment of Nonalcoholic Fatty Liver Disease in Children: Recommendations from the Expert Committee on NAFLD (ECON) and the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN).

    PubMed

    Vos, Miriam B; Abrams, Stephanie H; Barlow, Sarah E; Caprio, Sonia; Daniels, Stephen R; Kohli, Rohit; Mouzaki, Marialena; Sathya, Pushpa; Schwimmer, Jeffrey B; Sundaram, Shikha S; Xanthakos, Stavra A

    2017-02-01

    Nonalcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease that occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population and is a management challenge for general pediatric practitioners, subspecialists, and for health systems. In this guideline, the expert committee on NAFLD reviewed and summarized the available literature, formulating recommendations to guide screening and clinical care of children with NAFLD.

  1. DQB1 Locus Alone Explains Most of the Risk and Protection in Narcolepsy with Cataplexy in Europe

    PubMed Central

    Tafti, Mehdi; Hor, Hyun; Dauvilliers, Yves; Lammers, Gert J.; Overeem, Sebastiaan; Mayer, Geert; Javidi, Sirous; Iranzo, Alex; Santamaria, Joan; Peraita-Adrados, Rosa; Vicario, José L.; Arnulf, Isabelle; Plazzi, Giuseppe; Bayard, Sophie; Poli, Francesca; Pizza, Fabio; Geisler, Peter; Wierzbicka, Aleksandra; Bassetti, Claudio L.; Mathis, Johannes; Lecendreux, Michel; Donjacour, Claire E.H.M.; van der Heide, Astrid; Heinzer, Raphaël; Haba-Rubio, José; Feketeova, Eva; Högl, Birgit; Frauscher, Birgit; Benetó, Antonio; Khatami, Ramin; Cañellas, Francesca; Pfister, Corinne; Scholz, Sabine; Billiard, Michel; Baumann, Christian R.; Ercilla, Guadalupe; Verduijn, Willem; Claas, Frans H.J.; Dubois, Valérie; Nowak, Jacek; Eberhard, Hans-Peter; Pradervand, Sylvain; Hor, Charlotte N.; Testi, Manuela; Tiercy, Jean-Marie; Kutalik, Zoltán

    2014-01-01

    Study Objective: Prior research has identified five common genetic variants associated with narcolepsy with cataplexy in Caucasian patients. To replicate and/or extend these findings, we have tested HLA-DQB1, the previously identified 5 variants, and 10 other potential variants in a large European sample of narcolepsy with cataplexy subjects. Design: Retrospective case-control study. Setting: A recent study showed that over 76% of significant genome-wide association variants lie within DNase I hypersensitive sites (DHSs). From our previous GWAS, we identified 30 single nucleotide polymorphisms (SNPs) with P < 10-4 mapping to DHSs. Ten SNPs tagging these sites, HLADQB1, and all previously reported SNPs significantly associated with narcolepsy were tested for replication. Patients and Participants: For GWAS, 1,261 narcolepsy patients and 1,422 HLA-DQB1*06:02-matched controls were included. For HLA study, 1,218 patients and 3,541 controls were included. Measurements and Results: None of the top variants within DHSs were replicated. Out of the five previously reported SNPs, only rs2858884 within the HLA region (P < 2x10-9) and rs1154155 within the TRA locus (P < 2x10-8) replicated. DQB1 typing confirmed that DQB1*06:02 confers an extraordinary risk (odds ratio 251). Four protective alleles (DQB1*06:03, odds ratio 0.17, DQB1*05:01, odds ratio 0.56, DQB1*06:09 odds ratio 0.21, DQB1*02 odds ratio 0.76) were also identified. Conclusion: An overwhelming portion of genetic risk for narcolepsy with cataplexy is found at DQB1 locus. Since DQB1*06:02 positive subjects are at 251-fold increase in risk for narcolepsy, and all recent cases of narcolepsy after H1N1 vaccination are positive for this allele, DQB1 genotyping may be relevant to public health policy. Citation: Tafti M; Hor H; Dauvilliers Y; Lammers GJ; Overeem S; Mayer G; Javidi S; Iranzo A; Santamaria J; Peraita-Adrados R; Vicario JL; Arnulf I; Plazzi G; Bayard S; Poli F; Pizza F; Geisler P; Wierzbicka A; Bassetti CL

  2. 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.

  3. 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.

  4. 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.

  5. Screening for Psychosocial Risk in Pediatric Cancer

    PubMed Central

    Kazak, Anne E.; Brier, Moriah; Alderfer, Melissa A.; Reilly, Anne; Parker, Stephanie Fooks; Rogerwick, Stephanie; Ditaranto, Susan; Barakat, Lamia P.

    2012-01-01

    Major professional organizations have called for psychosocial risk screening to identify specific psychosocial needs of children with cancer and their families and facilitate the delivery of appropriate evidence-based care to address these concerns. However, systematic screening of risk factors at diagnosis is rare in pediatric oncology practice. Subsequent to a brief summary of psychosocial risks in pediatric cancer and the rationale for screening, this review identified three screening models and two screening approaches (Distress Thermometer [DT], Psychosocial Assessment Tool [PAT]), among many more papers calling for screening. Implications of broadly implemented screening for all patients across treatment settings are discussed. PMID:22492662

  6. Screening for psychosocial risk in pediatric cancer.

    PubMed

    Kazak, Anne E; Brier, Moriah; Alderfer, Melissa A; Reilly, Anne; Fooks Parker, Stephanie; Rogerwick, Stephanie; Ditaranto, Susan; Barakat, Lamia P

    2012-11-01

    Major professional organizations have called for psychosocial risk screening to identify specific psychosocial needs of children with cancer and their families and facilitate the delivery of appropriate evidence-based care to address these concerns. However, systematic screening of risk factors at diagnosis is rare in pediatric oncology practice. Subsequent to a brief summary of psychosocial risks in pediatric cancer and the rationale for screening, this review identified three screening models and two screening approaches [Distress Thermometer (DT), Psychosocial Assessment Tool (PAT)], among many more articles calling for screening. Implications of broadly implemented screening for all patients across treatment settings are discussed.

  7. 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

  8. Changing the education paradigm in pediatric dentistry.

    PubMed

    Ramos-Gomez, Francisco J

    2014-10-01

    Traditional curricula of pediatric dental residency programs have overemphasized restorative dentistry while failing to give adequate attention to early diagnosis, preventive disease management, risk assessment, cultural competency, advocacy, community partnerships and interprofessional education. The University of California, Los Angeles, Community Health and Advocacy Training Program in Pediatric Dentistry emphasizes these lesser-taught areas, integrating them within a structured education in classical restorative techniques and Commission on Dental Accreditation-approved standards, providing a diverse curriculum and preparing residents for practice in increasingly diverse communities.

  9. Pitfalls and variants in pediatric chest imaging.

    PubMed

    García Asensio, D; Fernández Martín, M

    2016-05-01

    Most pitfalls in the interpretation of pediatric chest imaging are closely related with the technique used and the characteristics of pediatric patients. To obtain a quality image that will enable the correct diagnosis, it is very important to use an appropriate technique. It is important to know how technical factors influence the image and to be aware of the possible artifacts that can result from poor patient cooperation. Moreover, radiologists need to be familiar with the normal anatomy in children, with the classic radiologic findings, and with the anatomic and developmental variants to avoid misinterpreting normal findings as pathological.

  10. 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

  11. 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.

  12. Sleep/wake fragmentation disrupts metabolism in a mouse model of narcolepsy.

    PubMed

    Zhang, Shengwen; Zeitzer, Jamie M; Sakurai, Takeshi; Nishino, Seiji; Mignot, Emmanuel

    2007-06-01

    Recent population studies have identified important interrelationships between sleep duration and body weight regulation. The hypothalamic hypocretin/orexin neuropeptide system is able to influence each of these. Disruption of the hypocretin system, such as occurs in narcolepsy, leads to a disruption of sleep and is often associated with increased body mass index. We examined the potential interrelationship between the hypocretin system, metabolism and sleep by measuring locomotion, feeding, drinking, body temperature, sleep/wake and energy metabolism in a mouse model of narcolepsy (ataxin-ablation of hypocretin-expressing neurons). We found that locomotion, feeding, drinking and energy expenditure were significantly reduced in the narcoleptic mice. These mice also exhibited severe sleep/wake fragmentation. Upon awakening, transgenic and control mice displayed a similar rate of increase in locomotion and food/water intake with time. A lack of long wake episodes partially or entirely explains observed differences in overall locomotion, feeding and drinking in these transgenic mice. Like other parameters, energy expenditure also rose and fell depending on the sleep/wake status. Unlike other parameters, however, energy expenditure in control mice increased upon awakening at a greater rate than in the narcoleptic mice. We conclude that the profound sleep/wake fragmentation is a leading cause of the reduced locomotion, feeding, drinking and energy expenditure in the narcoleptic mice under unperturbed conditions. We also identify an intrinsic role of the hypocretin system in energy expenditure that may not be dependent on sleep/wake regulation, locomotion, or food intake. This investigation illustrates the need for coordinated study of multiple phenotypes in mouse models with altered sleep/wake patterns.

  13. 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.

  14. Facing emotions in narcolepsy with cataplexy: haemodynamic and behavioural responses during emotional stimulation.

    PubMed

    de Zambotti, Massimiliano; Pizza, Fabio; Covassin, Naima; Vandi, Stefano; Cellini, Nicola; Stegagno, Luciano; Plazzi, Giuseppe

    2014-08-01

    Narcolepsy with cataplexy is a complex sleep disorder that affects the modulation of emotions: cataplexy, the key symptom of narcolepsy, is indeed strongly linked with emotions that usually trigger the episodes. Our study aimed to investigate haemodynamic and behavioural responses during emotional stimulation in narco-cataplexy. Twelve adult drug-naive narcoleptic patients (five males; age: 33.3 ± 9.4 years) and 12 healthy controls (five males; age: 30.9 ± 9.5 years) were exposed to emotional stimuli (pleasant, unpleasant and neutral pictures). Heart rate, arterial blood pressure and mean cerebral blood flow velocity of the middle cerebral arteries were continuously recorded using photoplethysmography and Doppler ultrasound. Ratings of valence and arousal and coping strategies were scored by the Self-Assessment Manikin and by questionnaires, respectively. Narcoleptic patients' haemodynamic responses to pictures overlapped with the data obtained from controls: decrease of heart rate and increase of mean cerebral blood flow velocity regardless of pictures' content, increase of systolic blood pressure during the pleasant condition, and relative reduction of heart rate during pleasant and unpleasant conditions. However, when compared with controls, narcoleptic patients reported lower arousal scores during the pleasant and neutral stimulation, and lower valence scores during the pleasant condition, respectively, and also a lower score at the 'focus on and venting of emotions' dimensions of coping. Our results suggested that adult narcoleptic patients, compared with healthy controls, inhibited their emotion-expressive behaviour to emotional stimulation, and that may be related to the development of adaptive cognitive strategies to face emotions avoiding cataplexy.

  15. Pediatric nonalcoholic fatty liver disease.

    PubMed

    Bozic, Molly A; Subbarao, Girish; Molleston, Jean P

    2013-08-01

    Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the pediatric population. Increased recognition of this form of liver disease parallels the dramatic rise in childhood and adolescent obesity over the past 2 decades. Like adults, most children with NAFLD are obese, and comorbidities include insulin resistance, hypertension, and dyslipidemia. Unfortunately, pediatric NAFLD is not always a benign condition, with some children progressing to hepatic fibrosis and even cirrhosis in severe cases. The etiology of nonalcoholic steatohepatitis is not yet fully understood; however, hepatic steatosis in the context of insulin resistance and increased oxidative stress may lead to progressive disease. Although physical examination, laboratory evaluation, and radiographic findings provide clues to the potential presence of fatty liver disease, liver biopsy remains the gold standard for diagnosis. Lifestyle modification, including slow and steady weight loss, improved dietary habits, and increased daily, aerobic physical activity, remains the first-line approach in treating pediatric fatty liver disease. Antioxidant pharmacologic therapy such as use of vitamin E has shown some benefit in patients with biopsy-proven steatohepatitis. Nutrition plays an essential role not only in the development of fatty liver disease but also potentially in the treatment and prevention of progression to more severe disease.

  16. 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…

  17. Correlates of Pediatric CPAP Adherence

    PubMed Central

    Hawkins, Stephen M.M.; Jensen, Emily L.; Simon, Stacey L.; Friedman, Norman R.

    2016-01-01

    Study Objectives: Obstructive sleep apnea (OSA) is a common pediatric condition characterized by recurrent partial or complete cessation of airflow during sleep, typically due to inadequate upper airway patency. Continuous positive airway pressure (CPAP) is a therapeutic option that reduces morbidity. Despite efforts to promote use, CPAP adherence is poor in both pediatric and adult populations. We sought to determine whether demographics, insurance status, OSA severity, therapeutic pressure, or comorbid conditions were associated with pediatric CPAP adherence. Methods: A retrospective review of adherence download data was performed on all pediatric patients with initiation or adjustment of CPAP treatment over a one-year period with documented in-laboratory CPAP titration. Patients were grouped as CPAP adherent or non-adherent, where adherence was defined as > 70% nightly use and average usage ≥ 4 hours per night. Differences between the groups were analyzed by χ2 test. Results: Overall, nearly half of participants were CPAP adherent (49%, 69/140). Of the demographic data collected (age, ethnicity, sex, insurance status), only female sex was associated with better adherence (60.9% vs 39.5% of males adherent; odds ratio [OR] = 2.41, 95%CI = 1.20–4.85; p = 0.01). Severity of OSA (diagnostic apnea-hypopnea index [AHI] and degree of hypoxemia), therapeutic pressure, and residual AHI did not impact CPAP adherence (p > 0.05). Patients with developmental delay (DD) were more likely to be adherent with CPAP than those without a DD diagnosis (OR = 2.55, 95%CI = 1.27–5.13; p = 0.007). Female patients with trisomy 21 tended to be more adherent, but this did not reach significance or account for the overall increased adherence associated with female sex. Conclusions: Our study demonstrates that adherence to CPAP therapy is poor but suggests that female sex and developmental delay are associated with better adherence. These findings support efforts to understand the

  18. 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

  19. An update on pediatric invasive aspergillosis.

    PubMed

    Frange, P; Bougnoux, M-E; Lanternier, F; Neven, B; Moshous, D; Angebault, C; Lortholary, O; Blanche, S

    2015-06-01

    Invasive aspergillosis (IA) is a major cause of morbidity and mortality in immunocompromised adults and children, the number of which has been continuously increasing in the last decades. The purpose of our review was to provide epidemiological, clinical, and biological data and antifungal treatment options in the pediatric population. Several biological assays (galactomannan enzyme immunoassay, β-D-glucan, detection of Aspergillus spp. DNA) have proven useful adjuncts for the diagnosis of IA in adult studies. However, data on these assays in children is limited by small sample sizes and sometimes conflicting results concerning their sensitivity/specificity. Pediatric treatment recommendations are mainly extrapolated from results of clinical trials performed in adults. It is thus necessary to develop new antifungal formulations specifically adapted to the pediatric population and to evaluate their pharmacokinetic/pharmacodynamic profile, their safety, and their effectiveness in infants and children.

  20. Biomarkers for CNS involvement in pediatric lupus

    PubMed Central

    Rubinstein, Tamar B; Putterman, Chaim; Goilav, Beatrice

    2015-01-01

    CNS disease, or central neuropsychiatric lupus erythematosus (cNPSLE), occurs frequently in pediatric lupus, leading to significant morbidity and poor long-term outcomes. Diagnosing cNPSLE is especially difficult in pediatrics; many current diagnostic tools are invasive and/or costly, and there are no current accepted screening mechanisms. The most complicated aspect of diagnosis is differentiating primary disease from other etiologies; research to discover new biomarkers is attempting to address this dilemma. With many mechanisms involved in the pathogenesis of cNPSLE, biomarker profiles across several modalities (molecular, psychometric and neuroimaging) will need to be used. For the care of children with lupus, the challenge will be to develop biomarkers that are accessible by noninvasive measures and reliable in a pediatric population. PMID:26079959

  1. 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.

  2. 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

  3. 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

  4. 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.

  5. Pediatric cranial computed tomography

    SciTech Connect

    Yamada, H.

    1984-01-01

    The introduction of CT in the investigation of intercranial pathology has revolutionized the approach to clinical neurological and neurosurgical practice. This book applies the advances of cranial CT to the pediatric patient. The test is divided into two sections. The first portion describes the practical methodology, anatomy and normal and abnormal CT scan appearance, including high or low density lesions, cystic lesions and ventricular or subarachnoid space dilation. The characteristic scans for various neurological diseases are presented and discussed. The author has given special attention to the CT diagnosis of congenital malformations and cerebral neoplasms. Partial Contents: Normal Computed Tomographic Anatomy/ High Density Lesions/Low Density Lesions/Cystic Lesions; Supratentorial/Cystic Lesions; Infratentorial/Increased Head Circumference/Increased Ventricular Size/Small Ventricular Size/Cranial Lesions/Spinal Lesions/CT Cisternography/Part II CT in Neonates/Congenital Craniocerebral Malformations/Hydrocephalus/Craniosynostosis/Head Trauma/Cerebrovascular Lesions/Intracranial Lesions/Seizure Disorders/Intracranial and Other Chronic Neurological Disorders.

  6. 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

  7. The pediatric nephrology nurse as clinical care coordinator.

    PubMed

    Frank, R

    1997-06-01

    The discipline of pediatric nephrology addresses a wide range of conditions of varying severity. The most benign conditions include orthostatic proteinuria, and thin basement nephropathy. The most challenging diagnosis in the field is chronic renal failure, particularly if the patient is an infant. Nurses trained in pediatric nephrology provide care to this entire spectrum of patients within the context of their family. The varied responsibilities and specialized training of the pediatric nephrology nurse as described in this article can serve as a prototype for the independent role of clinical care coordinator.

  8. Laser gingivectomy for pediatrics.

    PubMed

    Kelman, Michelle M; Poiman, David J; Jacobson, Barry L

    2010-01-01

    Traditional gingivectomy procedures have been a challenge for pediatric dentists who confront issues of patient cooperation and discomfort. Treatment of pediatric patients must involve minimal operative and postoperative discomfort. Laser soft-tissue surgery has been shown to be well accepted by children. For the pediatric patient, the greatest advantage of the laser is the lack of local anesthesia injection and the associated pre- and postoperative discomfort. The following case report describes a gingivectomy procedure performed on a 14-year-old female.

  9. 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

  10. Sedation for Pediatric Endoscopy

    PubMed Central

    2014-01-01

    It is more difficult to achieve cooperation when conducting endoscopy in pediatric patients than adults. As a result, the sedation for a comfortable procedure is more important in pediatric patients. The sedation, however, often involves risks and side effects, and their prediction and prevention should be sought in advance. Physicians should familiarize themselves to the relevant guidelines in order to make appropriate decisions and actions regarding the preparation of the sedation, patient monitoring during endoscopy, patient recovery, and hospital discharge. Furthermore, they have to understand the characteristics of the pediatric patients and different types of endoscopy. The purpose of this article is to discuss the details of sedation in pediatric endoscopy. PMID:24749082

  11. 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.

  12. 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.

  13. Current status of pediatric renal transplant pathology.

    PubMed

    Becker, Jan U

    2017-03-01

    Histopathology is still an indispensable tool for the diagnosis of kidney transplant dysfunction in adult and pediatric patients. This review presents consolidated knowledge, recent developments and future prospects on the biopsy procedure, the diagnostic work-up, classification schemes, the histopathology of rejection, including antibody-mediated forms, ABO-incompatible transplants, protocol biopsies, recurrent and de novo disease, post-transplant lymphoproliferative disorder, infectious complications and drug-induced toxicity. It is acknowledged that frequently the correct diagnosis can only be reached in consensus with clinical, serological, immunogenetical, bacteriological and virological findings. This review shall enhance the understanding of the pediatric nephrologist for the thought processes of nephropathologists with the aim to facilitate teamwork between these specialist groups for the benefit of the patient.

  14. Pediatric Bipolar Disorder: Diagnostic Challenges in Identifying Symptoms and Course of Illness

    PubMed Central

    Singh, Tanvir

    2008-01-01

    Based on available literature, this article reviews the challenges associated with diagnosing pediatric bipolar disorder. The article also reviews and provides discussion on the assessment tools, complex mood cycling, and clinical symptoms of pediatric bipolar disorder. The challenge of differentiating common comorbid disorders like attention deficit hyperactivity disorder and conduct disorder from pediatric bipolar disorder is presented and discussed. A discussion of the validity of diagnosis in longitudinal studies is also provided. PMID:19727283

  15. HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy

    PubMed Central

    Ollila, Hanna M.; Ravel, Jean-Marie; Han, Fang; Faraco, Juliette; Lin, Ling; Zheng, Xiuwen; Plazzi, Giuseppe; Dauvilliers, Yves; Pizza, Fabio; Hong, Seung-Chul; Jennum, Poul; Knudsen, Stine; Kornum, Birgitte R.; Dong, Xiao Song; Yan, Han; Hong, Heeseung; Coquillard, Cristin; Mahlios, Joshua; Jolanki, Otto; Einen, Mali; Lavault, Sophie; Högl, Birgit; Frauscher, Birgit; Crowe, Catherine; Partinen, Markku; Huang, Yu Shu; Bourgin, Patrice; Vaarala, Outi; Désautels, Alex; Montplaisir, Jacques; Mack, Steven J.; Mindrinos, Michael; Fernandez-Vina, Marcelo; Mignot, Emmanuel

    2015-01-01

    Type 1 narcolepsy, a disorder caused by a lack of hypocretin (orexin), is so strongly associated with human leukocyte antigen (HLA) class II HLA-DQA1∗01:02-DQB1∗06:02 (DQ0602) that very few non-DQ0602 cases have been reported. A known triggering factor for narcolepsy is pandemic 2009 influenza H1N1, suggesting autoimmunity triggered by upper-airway infections. Additional effects of other HLA-DQ alleles have been reported consistently across multiple ethnic groups. Using over 3,000 case and 10,000 control individuals of European and Chinese background, we examined the effects of other HLA loci. After careful matching of HLA-DR and HLA-DQ in case and control individuals, we found strong protective effects of HLA-DPA1∗01:03-DPB1∗04:02 (DP0402; odds ratio [OR] = 0.51 [0.38–0.67], p = 1.01 × 10−6) and HLA-DPA1∗01:03-DPB1∗04:01 (DP0401; OR = 0.61 [0.47–0.80], p = 2.07 × 10−4) and predisposing effects of HLA-DPB1∗05:01 in Asians (OR = 1.76 [1.34–2.31], p = 4.71 × 10−05). Similar effects were found by conditional analysis controlling for HLA-DR and HLA-DQ with DP0402 (OR = 0.45 [0.38–0.55] p = 8.99 × 10−17) and DP0501 (OR = 1.38 [1.18–1.61], p = 7.11 × 10−5). HLA-class-II-independent associations with HLA-A∗11:01 (OR = 1.32 [1.13–1.54], p = 4.92 × 10−4), HLA-B∗35:03 (OR = 1.96 [1.41–2.70], p = 5.14 × 10−5), and HLA-B∗51:01 (OR = 1.49 [1.25–1.78], p = 1.09 × 10−5) were also seen across ethnic groups in the HLA class I region. These effects might reflect modulation of autoimmunity or indirect effects of HLA class I and HLA-DP alleles on response to viral infections such as that of influenza. PMID:25574827

  16. Pediatric Ankle Fractures: Concepts and Treatment Principles

    PubMed Central

    Su, Alvin W.; Larson, A. Noelle

    2016-01-01

    Synopsis Current clinical concepts are reviewed regarding the epidemiology, anatomy, evaluation and treatment of pediatric ankle fractures. Correct diagnosis and management relies on appropriate exam, imaging, and knowledge of fracture patterns specific to children. Treatment is guided by patient history, physical examination, plain film radiographs and, in some instances, CT. Treatment goals are to restore acceptable limb alignment, physeal anatomy, and joint congruency. For high risk physeal fractures, patients should be monitored for growth disturbance as needed until skeletal maturity. PMID:26589088

  17. Pediatric neurology of the dog and cat.

    PubMed

    Lavely, James A

    2006-05-01

    The neurologic examination in the puppy or kitten can be a challenging experience. Understanding the development of behavior reflexes and movement in puppies and kittens enables us to overcome some of these challenges and to recognize the neurologically abnormal patient. Subsequently,we can identify the neuroanatomic localization and generate a differential diagnosis list. This article first reviews the pediatric neurologic examination and then discusses diseases unique to these individuals.

  18. Pediatric cardiopulmonary resuscitation.

    PubMed

    Orlowski, J P

    1983-04-01

    Pediatric cardiopulmonary resuscitation refers to those measures used to restore ventilation and circulation in children. This article defines how cardiopulmonary resuscitation in infants, children, and adolescents differs from cardiopulmonary resuscitation in adults and delineates the drugs and dosages to be used in the resuscitation of pediatric patients.

  19. Pediatric heart surgery - discharge

    MedlinePlus

    ... get enough calories to heal and grow. After heart surgery, most babies and infants (younger than 12 to 15 months) can take ... valve surgery - children - discharge; Heart surgery - pediatric - discharge; Heart transplant - pediatric - discharge ... open heart surgery References Bernstein D. General principles ...

  20. [Research in pediatrics].

    PubMed

    Herrera-Márquez, Julia Rocío; González-Cabello, Héctor Jaime

    2015-01-01

    In the interest of encouraging the promotion of research done by physicians of the Instituto Mexicano del Seguro Social, in this supplement we publish articles written by residents of different specialties related to critical themes on pediatrics. These residents are guided by affiliated physicians from the Hospital de Pediatría del Centro Médico Nacional Siglo XXI.

  1. Pediatric intensive care.

    PubMed

    Macintire, D K

    1999-07-01

    To provide optimal care, a veterinarian in a pediatric intensive care situation for a puppy or kitten should be familiar with normal and abnormal vital signs, nursing care and monitoring considerations, and probable diseases. This article is a brief discussion of the pediatric intensive care commonly required to treat puppies or kittens in emergency situations and for canine parvovirus type 2 enteritis.

  2. 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.…

  3. 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.

  4. Adolescent Depression: Evaluating Pediatric Residents' Knowledge, Confidence, and Interpersonal Skills Using Standardized Patients

    ERIC Educational Resources Information Center

    Lewy, Colleen; Sells, C. Wayne; Gilhooly, Jennifer; McKelvey, Robert

    2009-01-01

    Objective: The authors aim to determine whether pediatric residents used DSM-IV criteria to diagnose major depressive disorder and how this related to residents' confidence in diagnosis and treatment skills before and after clinical training with depressed adolescents. Methods: Pediatric residents evaluated two different standardized patients…

  5. Story-like organization of REM-dreams in patients with narcolepsy-cataplexy.

    PubMed

    Cipolli, Carlo; Bellucci, Claudia; Mattarozzi, Katia; Mazzetti, Michela; Tuozzi, Giovanni; Plazzi, Giuseppe

    2008-10-22

    Narcolepsy with cataplexy (NC) is a neurological disorder characterized by excessive daytime sleepiness and an altered architecture of sleep. Previous laboratory studies have shown that frightening, bizarre and visually vivid contents are more frequent in dream experiences developed during the first period of REM sleep by NC patients than healthy subjects. As the structural organization of dream experiences of NC patients has not been yet examined, we compared its indicators in dream reports collected from a sample of NC patients and their matched controls. During an experimental night two awakenings were provoked after 8min of REM sleep in the first and third sleep cycle. Dream reports were analyzed using the rules of story grammars, capable of identifying units larger than single contents and describing their story-like organization. While dream recall (about 85%) was comparable in NC patients and controls, 1st-REM dream reports were longer in NC patients. Statistical analyses on the 12 NC patients and their matched controls who reported dreams after both REM periods showed that dream experiences occurring in 1st-REM reports of NC patients were longer and had a more complex organization than those of controls. These findings suggest that the cognitive processes underlying dream generation reach their optimal functioning earlier in the night in NC patients than in normal subjects.

  6. 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.

  7. A case study of pediatric pneumonia with empyema.

    PubMed

    Waldrep, Vanessa B; Sloand, Elizabeth

    2013-04-01

    This case study provides a discussion of the diagnosis, management and comprehensive plan of care for empyema in children for the advanced practice registered nurse (APRN) working in primary care. The incidence of complicated pneumonias including those progressing to empyema is on the rise among pediatric patients. The ambiguous signs and symptoms of complicated pneumonias create a challenge for the provider when developing an accurate diagnosis and plan of care. Pediatric nurse practitioners must be cognizant of the increased incidence of complicated pneumonias and manage their patients accordingly. If left untreated, empyema may result in severe pulmonary complications.

  8. Pediatric allergy and immunology in Turkey.

    PubMed

    Celik, Gülfem; Bakirtas, Arzu; Sackesen, Cansin; Reisli, Ismail; Tuncer, Ayfer

    2011-06-01

    Allergic diseases constitute a significant health problem in Turkey. According to a recent multicenter study, which used the ISAAC questionnaire, the mean prevalence of wheezing, rhinoconjunctivitis, and eczema in 10-yr-old school children during the past year was 15.8%, 23.5%, and 8.1%, respectively. A healthcare level system, regulated by Ministry of Health, is available in Turkey. Pediatric allergists and pediatric immunologists provide patient care at the tertiary level. Currently, 48 centers deliver care for allergic and immunologic diseases in children. There are 136 pediatric and 61 adult allergists/immunologists. Although the number of allergy/clinical immunology specialists is limited, these centers are capable of delivering many of the procedures required for the proper management and diagnosis of allergy/immunology. Pediatric allergy and/or immunology is a subspecialty lasting 3 yr and follows a 4-yr pediatric specialist training. Fellow training involves gaining knowledge in basic and clinical allergy and immunology as well as the performance and interpretation of laboratory procedures in the field of allergy and clinical immunology. The Turkish National Society of Allergy and Clinical Immunology (TNSACI) was officially established in 1989 and currently has 356 members. The society organizes a national congress annually and winter schools for fellowship training as well as training courses for patients and their relatives. TNSACI also has a strong representation in European Academy of Allergy and Clinical Immunology (EAACI) and European Society for Immunodeficiencies (ESID) through its participation in the executive committee, consensus reports, and initiatives in the diagnosis of allergic and immunologic diseases of children. The 30th Congress of the EAACI is also due to be held in Istanbul, Turkey, between June 11 and 15, 2011.

  9. CD4+ T cell autoimmunity to hypocretin/orexin and cross-reactivity to a 2009 H1N1 influenza A epitope in narcolepsy.

    PubMed

    De la Herrán-Arita, Alberto K; Kornum, Birgitte Rahbek; Mahlios, Josh; Jiang, Wei; Lin, Ling; Hou, Tieying; Macaubas, Claudia; Einen, Mali; Plazzi, Giuseppe; Crowe, Catherine; Newell, Evan W; Davis, Mark M; Mellins, Elizabeth D; Mignot, Emmanuel

    2013-12-18

    Narcolepsy, a disorder strongly associated with human leukocyte antigen (HLA)-DQA1*01:02/DQB1*06:02 (DQ0602), is characterized by excessive daytime sleepiness, cataplexy, and rapid eye movement sleep abnormalities. It is caused by the loss of ~70,000 posterior hypothalamic neurons that produce the wake-promoting neuropeptide hypocretin (HCRT) (orexin). We identified two DQ0602-binding HCRT epitopes, HCRT56-68 and HCRT87-99, that activated a subpopulation of CD4(+) T cells in narcolepsy patients but not in DQ0602-positive healthy control subjects. Because of the established association of narcolepsy with the 2009 H1N1 influenza A strain (pH1N1), we administered a seasonal influenza vaccine (containing pH1N1) to patients with narcolepsy and found an increased frequency of circulating HCRT56-68- and HCRT87-99-reactive T cells. We also identified a hemagglutinin (HA) pHA1 epitope specific to the 2009 H1N1 strain, pHA1275-287, with homology to HCRT56-68 and HCRT87-99. In vitro stimulation of narcolepsy CD4(+) T cells with pH1N1 proteins or pHA1275-287 increased the frequency of HCRT56-68- and HCRT87-99-reactive T cells. Our data indicate the presence of CD4(+) T cells that are reactive to HCRT in narcolepsy patients and possible molecular mimicry between HCRT and a similar epitope in influenza pH1N1, pHA1275-287.

  10. 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.

  11. 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)

  12. 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

  13. Low-resolution brain electromagnetic tomography (LORETA) identifies brain regions linked to psychometric performance under modafinil in narcolepsy.

    PubMed

    Saletu, Michael; Anderer, Peter; Semlitsch, Heribert V; Saletu-Zyhlarz, Gerda Maria; Mandl, Magdalena; Zeitlhofer, Josef; Saletu, Bernd

    2007-01-15

    Low-resolution brain electromagnetic tomography (LORETA) showed a functional deterioration of the fronto-temporo-parietal network of the right hemispheric vigilance system in narcolepsy and a therapeutic effect of modafinil. The aim of this study was to determine the effects of modafinil on cognitive and thymopsychic variables in patients with narcolepsy and investigate whether neurophysiological vigilance changes correlate with cognitive and subjective vigilance alterations at the behavioral level. In a double-blind, placebo-controlled crossover design, EEG-LORETA and psychometric data were obtained during midmorning hours in 15 narcoleptics before and after 3 weeks of placebo or 400 mg modafinil. Cognitive investigations included the Pauli Test and complex reaction time. Thymopsychic/psychophysiological evaluation comprised drive, mood, affectivity, wakefulness, depression, anxiety, the Symptom Checklist 90 and critical flicker frequency. The Multiple Sleep Latency Test (MSLT) and the Epworth Sleepiness Scale (ESS) were performed too. Cognitive performance (Pauli Test) was significantly better after modafinil than after placebo. Concerning reaction time and thymopsychic variables, no significant differences were observed. Correlation analyses revealed that a decrease in prefrontal delta, theta and alpha-1 power correlated with an improvement in cognitive performance. Moreover, drowsiness was positively correlated with theta power in parietal and medial prefrontal regions and beta-1 and beta-2 power in occipital regions. A less significant correlation was observed between midmorning EEG LORETA and the MSLT; between EEG LORETA and the ESS, the correlation was even weaker. In conclusion, modafinil did not influence thymopsychic variables in narcolepsy, but it significantly improved cognitive performance, which may be related to medial prefrontal activity processes identified by LORETA.

  14. [Robotics in pediatric surgery].

    PubMed

    Camps, J I

    2011-10-01

    Despite the extensive use of robotics in the adult population, the use of robotics in pediatrics has not been well accepted. There is still a lack of awareness from pediatric surgeons on how to use the robotic equipment, its advantages and indications. Benefit is still controversial. Dexterity and better visualization of the surgical field are one of the strong values. Conversely, cost and a lack of small instruments prevent the use of robotics in the smaller patients. The aim of this manuscript is to present the controversies about the use of robotics in pediatric surgery.

  15. Pediatric Palliative Care

    PubMed Central

    Johnston, Donna L.; Hentz, Tracy A.; Friedman, Debra L.

    2005-01-01

    Pediatric palliative care provides benefit to children living with life-threatening or terminal conditions. Palliative care should be available to all seriously ill children. Palliative care includes the treatment of symptoms such as pain, nausea, dyspnea, constipation, anorexia, and sialorrhea. This care can occur in a variety of settings, from home to hospice to hospital, and must include bereavement care and follow up after the death of a child. There are many challenges in pediatric palliative care, but continued research into this important area of pediatrics will lead to improvements in the care of children with life-threatening illnesses. PMID:23118638

  16. 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.

  17. Antibiotics, pediatric dysbiosis, and disease.

    PubMed

    Vangay, Pajau; Ward, Tonya; Gerber, Jeffrey S; Knights, Dan

    2015-05-13

    Antibiotics are by far the most common medications prescribed for children. Recent epidemiological data suggests an association between early antibiotic use and disease phenotypes in adulthood. Antibiotic use during infancy induces imbalances in gut microbiota, called dysbiosis. The gut microbiome's responses to antibiotics and its potential link to disease development are especially complex to study in the changing infant gut. Here, we synthesize current knowledge linking antibiotics, dysbiosis, and disease and propose a framework for studying antibiotic-related dysbiosis in children. We recommend future studies into the microbiome-mediated effects of antibiotics focused on four types of dysbiosis: loss of keystone taxa, loss of diversity, shifts in metabolic capacity, and blooms of pathogens. Establishment of a large and diverse baseline cohort to define healthy infant microbiome development is essential to advancing diagnosis, interpretation, and eventual treatment of pediatric dysbiosis. This approach will also help provide evidence-based recommendations for antibiotic usage in infancy.

  18. 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.

  19. Genetic and genomic literacy in pediatric primary care.

    PubMed

    Saul, Robert A

    2013-12-01

    A colloquium on genetic literacy in pediatric primary care sponsored by the Health Resources and Services Administration Maternal and Child Health Bureau was held at the American Academy of Pediatrics headquarters on October 2-3, 2012. The overarching goal of the colloquium was to provide context for delivery of genetics-related services in day-to-day pediatric primary care practice, encompassing 3 dimensions of medicine: prevention, diagnosis, and management. Participants considered the whole spectrum of disease, from rare disorders to common disorders, the genetics-related components of which are often overlooked. Specific topics included family history, genomics, genetic literacy and competency, epigenetics, and a focused view of primary care and genetics. A consensus statement was developed to provide recommendations for integration of genetics into pediatric primary care.

  20. Diagnostic Emergency Ultrasound: Assessment Techniques In The Pediatric Patient.

    PubMed

    Guttman, Joshua; Nelson, Bret P

    2016-01-01

    Emergency ultrasound is performed at the point of care to answer focused clinical questions in a rapid manner. Over the last 20 years, the use of this technique has grown rapidly, and it has become a core requirement in many emergency medicine residencies and in some pediatric emergency medicine fellowships. The use of emergency ultrasound in the pediatric setting is increasing due to the lack of ionizing radiation with these studies, as compared to computed tomography. Utilizing diagnostic ultrasound in the emergency department can allow clinicians to arrive at a diagnosis at the bedside rather than sending the patient out of the department for another study. This issue focuses on common indications for diagnostic ultrasound, as found in the pediatric literature or extrapolated from adult literature where pediatric evidence is scarce. Limitations, current trends, controversies, and future directions of diagnostic ultrasound in the emergency department are also discussed.

  1. Pediatric Traumatic Brain Injury and Autism: Elucidating Shared Mechanisms

    PubMed Central

    Singh, Rahul; Nguyen, Linda; Motwani, Kartik; Swatek, Michelle

    2016-01-01

    Pediatric traumatic brain injury (TBI) and autism spectrum disorder (ASD) are two serious conditions that affect youth. Recent data, both preclinical and clinical, show that pediatric TBI and ASD share not only similar symptoms but also some of the same biologic mechanisms that cause these symptoms. Prominent symptoms for both disorders include gastrointestinal problems, learning difficulties, seizures, and sensory processing disruption. In this review, we highlight some of these shared mechanisms in order to discuss potential treatment options that might be applied for each condition. We discuss potential therapeutic and pharmacologic options as well as potential novel drug targets. Furthermore, we highlight advances in understanding of brain circuitry that is being propelled by improved imaging modalities. Going forward, advanced imaging will help in diagnosis and treatment planning strategies for pediatric patients. Lessons from each field can be applied to design better and more rigorous trials that can be used to improve guidelines for pediatric patients suffering from TBI or ASD. PMID:28074078

  2. [Pediatric nonalcoholic fatty liver disease/nonalcoholic steatohepatitis].

    PubMed

    Takahashi, Yoshihisa; Fukusato, Toshio; Inui, Ayano; Fujisawa, Tomoo

    2012-10-01

    Nonalcoholic fatty liver disease (NAFLD)/nonalcoholic steatohepatitis (NASH) is a hepatic disease associated with metabolic syndrome. In recent years, pediatric NAFLD has increased in line with the increased prevalence of pediatric obesity. The estimated prevalence of pediatric NAFLD is 2.6-9.6%. With regard to the pathogenesis of NAFLD/ NASH, the "two-hit" or "multiple-hit" hypothesis is widely accepted, and many genetic and environmental factors are associated with the development of NAFLD/NASH. Liver biopsy is regarded as the gold standard for the diagnosis of NAFLD/NASH. Pediatric NAFLD has different histopathological characteristics from those of adult NAFLD. Although pharmacotherapy has been studied in clinical trials, lifestyle modification by diet and exercise remains the mainstay of treatment for NAFLD/NASH.

  3. Cerebrovascular complications in pediatric intensive care unit

    PubMed Central

    Sachdev, Anil; Sharma, Rachna; Gupta, Dhiren

    2010-01-01

    Cerebrovascular complications are being frequently recognized in the pediatric intensive care unit in the recent few years. The epidemiology and risk factors for pediatric stroke are different from that of the adults. The incidence of ischemic stroke is almost slightly more than that of hemorrhagic stroke. The list of diagnostic causes is increasing with the availability of newer imaging modalities and laboratory tests. The diagnostic work up depends on the age of the child and the rapidity of presentation. Magnetic resonance imaging, computerized tomography and arteriography and venography are the mainstay of diagnosis and to differentiate between ischemic and hemorrhagic events. Very sophisticated molecular diagnostic tests are required in a very few patients. There are very few pediatric studies on the management of stroke. General supportive management is as important as the specific treatment. Most of the treatment guidelines and suggestions are extrapolated from the adult studies. Few guidelines are available for the use of anticoagulants and thrombolytic agents in pediatric patients. So, our objective was to review the available literature on the childhood stroke and to provide an insight into the subject for the pediatricians and critical care providers. PMID:21253346

  4. Biomarkers in Pediatric ARDS: Future Directions.

    PubMed

    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.

  5. 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

  6. Snapshot of Pediatric Cancers

    MedlinePlus

    ... and other central nervous system (CNS) tumors , and neuroblastoma , which are expected to account for more than ... in clinical trials in children with ALL and neuroblastoma. Selected Advances in Pediatric Cancers Research A comprehensive ...

  7. Pediatric inflammatory bowel disease

    PubMed Central

    Diefenbach, Karen A; Breuer, Christopher K

    2006-01-01

    Inflammatory bowel disease is an important cause of gastrointestinal pathology in children and adolescents. The incidence of pediatric inflammatory bowel disease is increasing; therefore, it is important for the clinician to be aware of the presentation of this disease in the pediatric population. Laboratory tests, radiology studies, and endoscopic procedures are helpful in diagnosing inflammatory bowel disease and differentiating between Crohn’s disease and ulcerative colitis. Once diagnosed, the goal of medical management is to induce remission of disease while minimizing the side effects of the medication. Specific attention needs to be paid to achieving normal growth in this susceptible population. Surgical management is usually indicated for failure of medical management, complication, or malignancy. Algorithms for diagnostic evaluation and treatment of pediatric inflammatory bowel disease are presented. The specific psychosocial issues facing these patients are also discussed in this review as are the future goals of research in the complex problem of pediatric inflammatory bowel disease. PMID:16718840

  8. American Board of Pediatrics

    MedlinePlus

    ... QUICK LINKS Search form Search LOG OUT ABP PORTFOLIO LOG IN ABP PORTFOLIO THE AMERICAN BOARD of PEDIATRICS Certifying excellence in ... Overview MOCA-Peds Pilot MOC for Residents ABP Portfolio FAQs APPLY FOR EXAM How to Apply Certification ...

  9. Referral to pediatric surgical specialists.

    PubMed

    Klein, Michael D

    2014-02-01

    The American Academy of Pediatrics, with the collaboration of the Surgical Sections of the American Academy of Pediatrics, has created referral recommendations intended to serve as voluntary practice parameters to assist general pediatricians in determining when and to whom to refer their patients for pediatric surgical specialty care. It is recognized that these recommendations may be difficult to implement, because communities vary in terms of access to major pediatric medical centers. Limited access does not negate the value of the recommendations, however, because the child who needs specialized surgical and anesthetic care is best served by the skills of the appropriate pediatric surgical team. Major congenital anomalies, malignancies, major trauma, and chronic illnesses (including those associated with preterm birth) in infants and children should be managed by pediatric medical subspecialists and pediatric surgical specialists at pediatric referral centers that can provide expertise in many areas, including the pediatric medical subspecialties and surgical specialties of pediatric radiology, pediatric anesthesiology, pediatric pathology, and pediatric intensive care. The optimal management of the child with complex problems, chronic illness, or disabilities requires coordination, communication, and cooperation of the pediatric surgical specialist with the child's primary care pediatrician or physician.

  10. Hypocretin and brain β-amyloid peptide interactions in cognitive disorders and narcolepsy

    PubMed Central

    Dauvilliers, Yves A.; Lehmann, Sylvain; Jaussent, Isabelle; Gabelle, Audrey

    2014-01-01

    Objective: To examine relationships between cerebrospinal fluid (CSF) Alzheimer' disease (AD) biomarkers and hypocretin-1 levels in patients with cognitive abnormalities and hypocretin-deficient narcolepsy-cataplexy (NC), estimate diagnostic accuracy, and determine correlations with sleep disturbances. Background: Sleep disturbances are frequent in AD. Interactions between brain β-amyloid (Aβ) aggregation and a wake-related neurotransmitter hypocretin have been reported in a mouse model of AD. Methods: Ninety-one cognitive patients (37 AD, 16 mild cognitive impairment—MCI that converts to AD, 38 other dementias) and 15 elderly patients with NC were recruited. Patients were diagnosed blind to CSF results. CSF Aβ42, total tau, ptau181, and hypocretin-1 were measured. Sleep disturbances were assessed with questionnaires in 32 cognitive patients. Results: Lower CSF Aβ42 but higher tau and P-tau levels were found in AD and MCI compared to other dementias. CSF hypocretin-1 levels were higher in patients with MCI due to AD compared to other dementias, with a similar tendency for patients with advanced AD. CSF hypocretin-1 was significantly and independently associated with AD/MCI due to AD, with an OR of 2.70 after full adjustment, exceeding that for Aβ42. Aβ42 correlated positively with hypocretin-1 levels in advanced stage AD. No association was found between sleep disturbances and CSF biomarkers. No patients with NC achieved pathological cutoffs for Aβ42, with respectively one and four patients with NC above tau and P-tau cutoffs and no correlations between hypocretin-1 and other biomarkers. Conclusions: Our results suggest a pathophysiological relationship between Aβ42 and hypocretin-1 in the AD process, with higher CSF hypocretin-1 levels in early disease stages. Further longitudinal studies are needed to validate these biomarker interactions and to determine the cause-effect relationship and the role of wake/sleep behavior in amyloid plaque regulation

  11. Work up of Pediatric Urinary Tract Infection

    PubMed Central

    Copp, Hillary L.; Schmidt, Bogdana

    2016-01-01

    Pediatric UTI costs the healthcare system upwards of 180 million dollars annually, and accounts for over 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. Outside of the first 12 months, girls are more likely to be diagnosed with a UTI. About half of boys with UTI will be diagnosed within the first 12 months of life. The prevalence and incidence of pediatric UTI varies by age, race/ethnicity, sex and circumcision status. Diagnosis of UTI is made based on history and exam findings and confirmed with appropriately collected urine. If a bag specimen is negative, this can be used to rule out UTI without the need for confirmatory culture; however positive urinalysis tests from bag specimen warrant further investigation with a catheterized specimen or suprapubic aspiration. Urine culture is the gold standard for diagnosing UTI: Greater than 50,000 CFU on a catheterized specimen or suprapubic aspiration indicate presence of a UTI. Greater than 100,000 CFU on a voided specimen is considered a positive culture. There is no consensus on the need and optimal strategy for imaging in the setting of urinary tract infection in the pediatric population. Prompt recognition of UTI and antibiogram-based, empiric treatment or culture-based, targeted treatment should be initiated within 72 of presentation. PMID:26475948

  12. Selected applications of technology in the pediatric dermatology office.

    PubMed

    Ducharme, Erin E; Silverberg, Nanette B

    2008-03-01

    The pediatric dermatologist is equipped with several diagnostic and therapeutic tools that can be used in the office. The Wood's lamp, introduced nearly a century ago, continues to be a safe, noninvasive diagnostic tool used today for diagnosing cutaneous infections, pigmentary disorders, and porphyrias. The pulsed dye laser is the treatment of choice for vascular lesions and has an expanding list of other applications, such as warts, which are extremely common in the pediatric population. Dermoscopy has emerged as an effective adjunctive tool in the in vivo examination of pigmented skin lesions and early diagnosis of cutaneous malignant melanoma. Other uses are also being explored including diagnosis of scabies. Future directions of technology in the pediatric dermatology office include implementation of electronic medical record systems and treatment of conditions such as molluscum, warts, and acne vulgaris with photodynamic therapy.

  13. Pediatric enteral nutrition.

    PubMed

    Axelrod, David; Kazmerski, Kimberly; Iyer, Kishore

    2006-01-01

    Common to all pediatric patients receiving enteral nutrition is the inability to consume calories orally. This is often secondary to issues of inadequate weight gain, inadequate growth, prolonged feeding times, weight loss, a decrease in weight/age or weight/height ratios, or a persistent triceps skinfold thickness <5% for age. Enteral nutrition requires enteral access. In the neonatal period the nasoenteric route is usually used. In pediatric patients requiring long-term enteral access, surgically, endoscopically, or radiologically placed percutaneous feeding tubes are common. Jejunal feeding tubes are used in pediatric patients with gastric feeding intolerance or persistent gastroesophageal reflux. Low-profile enteral access devices are preferred by most pediatric patients because of their cosmetic appearance. For most children, a standard pediatric polypeptide enteral formula is well tolerated. There are specialized pediatric enteral formulas available for patients with decreased intestinal length, altered intestinal absorptive capacity, or altered pancreatic function. Weaning patients from tube feeding to oral nutrition is the ultimate nutrition goal. A multidisciplinary approach to patients with short bowel syndrome will maximize the use of enteral nutrition while preserving parenteral nutrition for patients with true enteral nutrition therapy failure.

  14. 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

  15. The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene-environment interaction.

    PubMed

    Bomfim, I L; Lamb, F; Fink, K; Szakács, A; Silveira, A; Franzén, L; Azhary, V; Maeurer, M; Feltelius, N; Darin, N; Hallböök, T; Arnheim-Dahlström, L; Kockum, I; Olsson, T

    2017-03-23

    The influenza A(H1N1)pdm09 vaccination campaign from 2009 to 2010 was associated with a sudden increase in the incidence of narcolepsy in several countries. Narcolepsy with cataplexy is strongly associated with the human leukocyte antigen (HLA) class II DQB1*06:02 allele, and protective associations with the DQB1*06:03 allele have been reported. Several non-HLA gene loci are also associated, such as common variants of the T-cell receptor-α (TRA), the purinergic receptor P2RY11, cathepsin H (CTSH) and TNFSF4/OX40L/CD252. In this retrospective multicenter study, we investigated if these predisposing gene loci were also involved in vaccination-associated narcolepsy. We compared HLA- along with single-nucleotide polymorphism genotypes for non-HLA regions between 42 Pandemrix-vaccinated narcolepsy cases and 1990 population-based controls. The class II gene loci associations supported previous findings. Nominal association (P-value<0.05) with TRA as well as suggestive (P-value<0.1) associations with P2RY11 and CTSH were found. These associations suggest a very strong gene-environment interaction, in which the influenza A(H1N1)pdm09 strain or Pandemrix vaccine can act as potent environmental triggers.Genes and Immunity advance online publication, 23 March 2017; doi:10.1038/gene.2017.1.

  16. 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.

  17. Cerebrospinal fluid histamine levels are decreased in patients with narcolepsy and excessive daytime sleepiness of other origin.

    PubMed

    Bassetti, Claudio L; Baumann, Christian R; Dauvilliers, Yves; Croyal, Michael; Robert, Philippe; Schwartz, Jean-Charles

    2010-12-01

    Histaminergic neurons of the hypothalamic tuberomammillary nucleus constitute a major wake-promoting system. In animals, cerebrospinal fluid (CSF) histamine levels are increased during wakefulness and after sleep deprivation and decreased during sleep. An involvement of the histamine system in human disorders has not, to our knowledge, been reported. We measured hypocretin-1 and histamine levels in the lumbar CSF of 28 patients with and without excessive daytime sleepiness (EDS) as assessed by the Epworth Sleepiness Scale (ESS). There were 10 patients with EDS (ESS > 10, mean ESS = 14). Diagnoses included narcolepsy (n = 4), idiopathic hypersomnia (n = 2), sleep apnoea (n = 2) and multiple sclerosis (n = 2). Three patients were treated with stimulants. Their mean CSF histamine was 258 ± 159 PM. There were 18 patients without EDS (ESS < 9, mean ESS = 5). No patients were treated with stimulants. Their mean CSF histamine was significantly higher (624 ± 481 PM, P = 0.007). There was a significant inverse correlation (r = -0.48, P = 0.02) between ESS and both CSF histamine and hypocretin-1 levels. These observations suggest that narcolepsy and EDS of other origin are associated in humans with lower CSF histamine levels and therefore with a reduced activity of the wake-promoting histaminergic neuronal system.

  18. Scope of practice issues in the delivery of pediatric health care.

    PubMed

    2013-06-01

    The American Academy of Pediatrics (AAP) believes that optimal pediatric health care depends on a team-based approach with supervision by a physician leader, preferably a pediatrician. The pediatrician, here defined to include not only pediatric generalists but all pediatric medical subspecialists, all surgical specialists, and internal medicine/pediatric physicians, is uniquely qualified to manage, coordinate, and supervise the entire spectrum of pediatric care, from diagnosis through all stages of treatment, in all practice settings. The AAP recognizes the valuable contributions of nonphysician clinicians, including nurse practitioners and physician assistants, in delivering optimal pediatric care. However, the expansion of the scope of practice of nonphysician pediatric clinicians raises critical public policy and child health advocacy concerns. Pediatricians should serve as advocates for optimal pediatric care in state legislatures, public policy forums, and the media and should pursue opportunities to resolve scope of practice conflicts outside state legislatures. The AAP affirms the importance of appropriate documentation and standards in pediatric education, training, skills, clinical competencies, examination, regulation, and patient care to ensure safety and quality health care for all infants, children, adolescents, and young adults.

  19. Early rehabilitative treatment for pediatric acute disseminated encephalomyelitis: case report.

    PubMed

    Carlisi, E; Pavese, C; Mandrini, S; Carenzio, G; Dalla Toffola, E

    2015-06-01

    Although the diagnosis of and therapy for acute disseminated encephalomyelitis (ADEM) have been extensively investigated, the role of rehabilitation in modifying its functional outcome has received little attention in the literature so far. We report a case of pediatric ADEM who showed complete functional recovery following early rehabilitative treatment, started in the Intensive Care Unit.

  20. Psychiatric Comorbidity and Cognitive Profile in Children with Narcolepsy with or without Association to the H1N1 Influenza Vaccination

    PubMed Central

    Szakács, Attila; Hallböök, Tove; Tideman, Pontus; Darin, Niklas; Wentz, Elisabet

    2015-01-01

    Objectives: To evaluate psychiatric comorbidity and the cognitive profile in children and adolescents with narcolepsy in western Sweden and the relationship of these problems to H1N1 vaccination. Patients: Thirty-eight patients were included in the study. Design: We performed a population-based, cross-sectional study to investigate psychiatric comorbidity using a test battery of semistructured interviews generating Diagnostic and Statistical Manual of Mental Disorders, 4th Edition diagnoses, including the Development and Well-Being Assessment and the attention deficit hyperactivity disorder rating scale. The Autism Spectrum Screening Questionnaire and the Positive and Negative Syndrome Scale were used to screen for autistic traits and psychotic symptoms, respectively. The cognitive assessments were made by a clinical psychologist using the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, the Wechsler Intelligence Scale for Children, Fourth Edition, or the Wechsler Adult Intelligence Scale, Fourth Edition. Measurements and Results: In the post-H1N1 vaccination (PHV) narcolepsy group (n = 31), 43% of patients had psychiatric comorbidity, 29% had attention deficit hyperactivity disorder (ADHD) inattentive type, 20% had major depression, 10% had general anxiety disorder, 7% had oppositional defiant disorder (ODD), 3% had pervasive developmental disorder not otherwise specified (i.e., atypical autism), and 3% had eating disorder not otherwise specified (anorectic type). In the non–post-H1N1 vaccination (nPHV) narcolepsy group, one of seven patients had ADHD, inattentive type and ODD. The most frequent psychiatric symptom was temper tantrums, which occurred in 94% of the patients in the PHV group and 71% of the patients in the nPHV narcolepsy group. The cognitive assessment profile was similar in both groups and showed normal results for mean full-scale IQ and perceptual speed but decreased verbal comprehension and working memory. Patients with

  1. Pediatric Exposures to Ionizing Radiation: Carcinogenic Considerations

    PubMed Central

    Kutanzi, Kristy R.; Lumen, Annie; Koturbash, Igor; Miousse, Isabelle R.

    2016-01-01

    Children are at a greater risk than adults of developing cancer after being exposed to ionizing radiation. Because of their developing bodies and long life expectancy post-exposure, children require specific attention in the aftermath of nuclear accidents and when radiation is used for diagnosis or treatment purposes. In this review, we discuss the carcinogenic potential of pediatric exposures to ionizing radiation from accidental, diagnostic, and therapeutic modalities. Particular emphasis is given to leukemia and thyroid cancers as consequences of accidental exposures. We further discuss the evidence of cancers that arise as a result of radiotherapy and conclude the review with a summary on the available literature on the links between computer tomography (CT) and carcinogenesis. Appropriate actions taken to mitigate or minimize the negative health effects of pediatric exposures to ionizing radiation and future considerations are discussed. PMID:27801855

  2. The Role of Calprotectin in Pediatric Disease

    PubMed Central

    Kostakis, Ioannis D.; Zavras, Nick; Chatzemichael, Athanasios

    2013-01-01

    Calprotectin (CP) is a calcium- and zinc-binding protein of the S100 family expressed mainly by neutrophils with important extracellular activity. The aim of the current review is to summarize the latest findings concerning the role of CP in a diverse range of inflammatory and noninflammatory conditions among children. Increasing evidence suggests the implication of CP in the diagnosis, followup, assessment of relapses, and response to treatment in pediatric pathological conditions, such as inflammatory bowel disease, necrotizing enterocolitis, celiac disease, intestinal cystic fibrosis, acute appendicitis, juvenile idiopathic arthritis, Kawasaki disease, polymyositis-dermatomyositis, glomerulonephritis, IgA nephropathy, malaria, HIV infection, hyperzincemia and hypercalprotectinemia, and cancer. Further studies are required to provide insights into the actual role of CP in these pathological processes in pediatrics. PMID:24175291

  3. 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

  4. 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.

  5. Treatment of Pediatric Bipolar Disorder: A Review

    PubMed Central

    Washburn, Jason J.; West, Amy E.; Heil, Jennifer A.

    2011-01-01

    Aim To review the diagnosis and the pharmacologic and psychosocial interventions for pediatric bipolar disorder (PBD). Methods A comprehensive literature review of studies discussing the diagnosis and treatment of PBD was conducted. Results A context for understanding controversies and difficulties in the diagnosis of PBD is provided. An evidence-based assessment protocol for PBD is reviewed. The evidence for the following three categories of pharmacologic interventions are reviewed: Lithium, antiepileptics, and second generation antipsychotics. Algorithms for medication decisions are briefly reviewed. Existing psychosocial treatments and the evidence for those treatments are also reviewed. Conclusion Despite recent developments in understanding the phenomenology of PBD and in identifying pharmacologic and psychosocial interventions, critical gaps remain. PMID:21822352

  6. 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

  7. 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

  8. American Academy of Pediatric Dentistry

    MedlinePlus

    ... Litch's Law Log HIPAA Forms Practice Management and Marketing Newsletter Webinar Materials Member Resources 2017 General Assembly ... Archives Access Pediatric Dentistry Today Practice Management and Marketing Newsletter Pediatric Dentistry Journal Open Access Articles Policies & ...

  9. [History of pediatric anesthesiology].

    PubMed

    Simić, Dusica; Dragović, Simon; Budić, Ivana

    2007-01-01

    Among advances in medicine during the past 150 years, certainly the introduction of surgical anesthesia must be considered the greatest gifts of medical profession to mankind, especially to children. Pediatric anesthesia has progressed rapidly throughout the years. Since the first recorded case of pediatric anesthesia in 1842 to the latest advancement in training, technology, medicine and equipment in the last decades of this century, many historic moments have been following each other. Throughout the first decades of 20th century, most physicians treated children as miniature adults. It is believed that the development of modern pediatric anesthesia started in 1930. To offer a historic perspective, the evolution of new field through its rapid growth was divided into two chronologic categories: first (1930-1950) and second (1950-present). During the first period (1930-1950), the anesthesia techniques and equipment adjusted to different children's age were developed. In the second, together with further technique and equipment refinement, modern anesthetics and vital system surveillance (monitoring) were introduced into everyday practice. The keyto the advances in pediatric anesthesiology was difficulties leading to new inventions with consequent improvement of techniques and methods. This article reviews the origins and development of anesthesia for infants and children in the world and Serbia, emphasizing the contributions of many devoted physicians that represented the major force leading to inevitable evolution of pediatric anesthesia.

  10. Pediatric Sleep Apnea

    PubMed Central

    Ievers-Landis, Carolyn E.; Redline, Susan

    2007-01-01

    Over the last 30 years, the prevalence of overweight across all pediatric age groups and ethnicities has increased substantially, with the current prevalence of overweight among adolescents estimated to be approximately 30%. Current evidence suggests that overweight is modestly associated with obstructive sleep apnea syndrome (OSAS) among young children, but strongly associated with OSAS in older children and adolescents. The rising incidence of pediatric overweight likely will impact the prevalence, presentation, and treatment of childhood OSAS. The subgroup of children who may be especially susceptible include ethnic minorities and those from households with caregivers from low socioeconomic groups. OSAS, by exposing children to recurrent intermittent hypoxemia or oxidative stress, may amplify the adverse effects of adiposity on systemic inflammation and metabolic perturbations associated with vascular disease and diabetes. When these conditions manifest early in life, they have the potential to alter physiology at critical developmental stages, or, if persistent, provide cumulative exposures that may powerfully alter long-term health profiles. An increased prevalence of overweight also may impact the response to adenotonsillectomy as a primary treatment for childhood OSAS. The high and anticipated increased prevalence of pediatric OSAS mandates assessment of optimal approaches for preventing and treating both OSAS and overweight across the pediatric age range. In this Pulmonary Perspective, the interrelationships between pediatric OSAS and overweight are reviewed, and the implications of the overweight epidemic on childhood OSAS are discussed. PMID:17158283

  11. Pediatric Antimicrobial Stewardship Programs

    PubMed Central

    Nichols, Kristen; Stoffella, Sylvia; Meyers, Rachel; Girotto, Jennifer

    2017-01-01

    The frequent use of antimicrobials in pediatric patients has led to a significant increase in multidrug-resistant bacterial infections among children. Antimicrobial stewardship programs have been created in many hospitals in an effort to curtail and optimize the use of antibiotics. Pediatric-focused programs are necessary because of the differences in antimicrobial need and use among this patient population, unique considerations and dosing, vulnerability for resistance due to a lifetime of antibiotic exposure, and the increased risk of adverse events. This paper serves as a position statement of the Pediatric Pharmacy Advocacy Group (PPAG) who supports the implementation of antimicrobial stewardship programs for all pediatric patients. PPAG also believes that a pediatric pharmacy specialist should be included as part of that program and that services be covered by managed care organizations and government insurance entities. PPAG also recommends that states create legislation similar to that in existence in California and Missouri and that a federal Task Force for Combating Antibiotic-Resistant Bacteria be permanently established. PPAG also supports post-doctoral pharmacy training programs in antibiotic stewardship.

  12. What's new in pediatric orthopaedics.

    PubMed

    Sanders, James O; Otsuka, Norman Y; Martus, Jeffrey E

    2015-02-18

    This past year has seen an increase in the quality of studies in pediatric orthopaedics, and the completion of BrAIST demonstrated that high-level studies of important questions can be addressed in pediatric orthopaedics. The current commitment of improving quality of care for children promises a healthy future for pediatric orthopaedics.

  13. Sleeping beauties in pediatrics

    PubMed Central

    Završnik, Jernej; Kokol, Peter

    2016-01-01

    Sleeping beauties (SBs) in science have been known for few decades; however, it seems that only recently have they become popular. An SB is a publication that “sleeps” for a long time and then almost suddenly awakes and becomes highly cited. SBs present interesting findings in science. Pediatrics research literature has not yet been analyzed for their presence, and 5 pediatrics SBs were discovered in this research. Their prevalence was approximately 0.011%. Some environments or periods are more “SB fertile” than others: 3 of 5 SBs were published in the journal Pediatrics, 4 originated from the United States, and 4 were published in the period from 1992 to 1993. No institutions or authors published more than 1 SB. PMID:27822155

  14. 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. PMID:27417349

  15. Pediatric considerations in homecare.

    PubMed

    Petit de Mange, E A

    1998-09-01

    "If I had known beforehand how difficult, demanding, time consuming, and exhausting it would be--having my child home on a ventilator--I would never have agreed to bring her home" (personal communication with a parent, 1994). This mother's statement strikes at the heart of pediatric high-tech homecare. Parents assume caregiver roles that professional health providers have taken years to develop. Nurses, as strangers, intrude into intimate family relationships that have cultivated over years. Pioneering agencies attempt to fill a gap in pediatric care using guidelines that have been entrenched in the medical and economic models for years. The multiple dimensions of high-tech pediatric homecare require more than provision of technical nursing services. In homecare, nurses are challenged by cultural differences, language barriers, loss of control, family dynamics, practicing in unfamiliar environments, and new technology. To ensure quality nursing care, all professional dimensions need to be considered to be of equal importance.

  16. Pediatric thoracoabdominal biomechanics.

    PubMed

    Kent, Richard; Salzar, Robert; Kerrigan, Jason; Parent, Daniel; Lessley, David; Sochor, Mark; Luck, Jason F; Loyd, Andre; Song, Yin; Nightingale, Roger; Bass, Cameron R; Maltese, Matthew R

    2009-11-01

    No experimental data exist quantifying the force-deformation behavior of the pediatric chest when subjected to non-impact, dynamic loading from a diagonal belt or a distributed loading surface. Kent et al. (2006) previously published juvenile abdominal response data collected using a porcine model. This paper reports on a series of experiments on a 7-year-old pediatric post-mortem human subject (PMHS) undertaken to guide the scaling of existing adult thoracic response data for application to the child and to assess the validity of the porcine abdominal model. The pediatric PMHS exhibited abdominal response similar to the swine, including the degree of rate sensitivity. The upper abdomen of the PMHS was slightly stiffer than the porcine behavior, while the lower abdomen of the PMHS fit within the porcine corridor. Scaling of adult thoracic response data using any of four published techniques did not successfully predict the pediatric behavior. All of the scaling techniques intrinsically reduce the stiffness of the adult response, when in reality the pediatric subject was as stiff as, or slightly more stiff than, published adult corridors. An assessment of age-related changes in thoracic stiffness indicated that for both a CPR patient population and dynamic diagonal belt loading on a PMHS population, the effective stiffness of the chest increases through the fourth decade of life and then decreases, resulting in stiffness values approximately the same for children and for elderly adults. Additional research is needed to elucidate the generality of this finding and to assess its significance for scaling adult data to represent pediatric responses.

  17. 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.

  18. Pediatric Gastric Teratoma

    PubMed Central

    Valenzuela-Ramos, Marco Cesar; Mendizábal-Méndez, Ana Luisa; Ríos-Contreras, Carlos Alberto; Rodríguez-Montes, Claudia Esther

    2010-01-01

    Neoplasms from germ cell origin are a heterogeneous group of tumors rarely seen in the pediatric population, teratoma is the most frequent among them. They can occur in either gonadal or extragonadal locations. Extragonadal teratoma arising from abdominal viscera is very unusual. There are less than a hundred reported cases of gastric teratoma in the worldwide literature. Since the occurrence of this pathology in the pediatric age group is quite rare, we describe a case of a teratoma located in the lesser curvature of the stomach in an infant with an emphasis in radiologic-pathologic correlation. PMID:22470691

  19. Tracheostomy: pediatric considerations.

    PubMed

    Deutsch, Ellen S

    2010-08-01

    Pediatric patients for whom tracheotomy is a consideration have different anatomy, medical conditions, and prognoses than adults; even the tracheotomy tubes are different. Indications for pediatric tracheotomy generally include bypassing airway obstruction, providing access for prolonged mechanical ventilation, and facilitating tracheobronchial toilet. Subglottic stenosis is an important indication for tracheotomy in children; its etiology, prevention, and alternative options for management are presented. Discussion includes the benefits, risks, impact on families, techniques for tracheotomy tube changes, and alternatives to tracheotomy, with illustrative photographs and diagrams.

  20. A/H1N1 antibodies and TRIB2 autoantibodies in narcolepsy patients diagnosed in conjunction with the Pandemrix vaccination campaign in Sweden 2009-2010.

    PubMed

    Lind, Alexander; Ramelius, Anita; Olsson, Tomas; Arnheim-Dahlström, Lisen; Lamb, Favelle; Khademi, Mohsen; Ambati, Aditya; Maeurer, Markus; Nilsson, Anna-Lena; Bomfim, Izaura Lima; Fink, Katharina; Lernmark, Åke

    2014-05-01

    Narcolepsy is a lifelong sleep disorder related to hypocretin deficiency resulting from a specific loss of hypocretin-producing neurons in the lateral hypothalamic area. The disease is thought to be autoimmune due to a strong association with HLA-DQB1*06:02. In 2009 the World Health Organization (WHO) declared the H1N1 2009 flu pandemic (A/H1N1PDM09). In response to this, the Swedish vaccination campaign began in October of the same year, using the influenza vaccine Pandemrix(®). A few months later an excess of narcolepsy cases was observed. It is still unclear to what extent the vaccination campaign affected humoral autoimmunity associated with narcolepsy. We studied 47 patients with narcolepsy (6-69 years of age) and 80 healthy controls (3-61 years of age) selected after the Pandemrix vaccination campaign. The first aim was to determine antibodies against A/H1N1 and autoantibodies to Tribbles homolog 2 (TRIB2), a narcolepsy autoantigen candidate as well as to GAD65 and IA-2 as disease specificity controls. The second aim was to test if levels and frequencies of these antibodies and autoantibodies were associated with HLA-DQB1*06:02. In vitro transcribed and translated [(35)S]-methionine and -cysteine-labeled influenza A virus (A/California/04/2009/(H1N1)) segment 4 hemagglutinin was used to detect antibodies in a radiobinding assay. Autoantibodies to TRIB2, GAD65 and IA-2 were similarly detected in standard radiobinding assays. The narcolepsy patients had higher median levels of A/H1N1 antibodies than the controls (p = 0.006). A/H1N1 antibody levels were higher among the <13 years old (n = 12) compared to patients who were older than 30 years (n = 12, p = 0.014). Being HLA-DQB1*06:02 positive was associated with higher A/H1N1 antibody levels in both patients and controls (p = 0.026). Serum autoantibody levels to TRIB2 were low overall and high binders did not differ between patients and controls. We observed an association between levels of A/H1N1

  1. Conversion disorder in a pediatric transgender patient.

    PubMed

    Orfanelli, Laura; Borkowski, Winslow J

    2006-04-01

    Somatoform disorders are difficult to diagnosis and often present as a neurological illness in pediatric populations. Conversion disorder is the somatoform disorder most commonly seen in children, particularly adolescents, who have anxiety related to sexual behaviors and orientation. In a transgender patient, the risk of conversion disorder is even higher. The patient described in this article presented with multiple neurological symptoms that disappeared after she began presenting herself as a male. There is a significant need for research into somatoform disorders as well as research into the transgender population.

  2. Imaging of the pediatric thymus: Clinicoradiologic approach

    PubMed Central

    Manchanda, Smita; Bhalla, Ashu S; Jana, Manisha; Gupta, Arun K

    2017-01-01

    The thymus is a lymphatic organ that undergoes dynamic changes with age and disease. It is important to be familiar with these physiological changes in the thymus gland to be able to identify pathology and make an accurate diagnosis. The thymus may be involved in multisystem disorders or show focal isolated lesions. The aim of this article is to review the radiological anatomy of the thymus, normal variants, and pathology including hyperplasia and benign/malignant lesions involving the thymus gland in the pediatric age group. We also propose an algorithmic approach for imaging evaluation of a suspected thymic mass on the basis of morphologic features. PMID:28224091

  3. [Eosinophilic cellulitis: About a new pediatric case].

    PubMed

    Makni, Saadia; Kallel, Rim; Chaabène, Hend; Bahloul, Emna; Bahri, Ibtissem; Turki, Hamida; Gouiaa, Naourez; Boudawara, Tahya

    2015-12-01

    Wells' syndrome or "eosinophilic cellulitis" is characterized by clinical features of cellulitis and histological pictures of eosinophils infiltrate of the dermis with some « flame » figures. This is a very rare disease in the pediatric age. We report the case of a 14-month-old boy, presented with two farms painful nodular brownish lesions in the thigh and back of the foot as well as multiple erythematous papular and vesicular lesions on the forehead, cheeks, limbs and trunk. Biological analysis and histological examination confirmed the diagnosis of Wells' syndrome. The outcome was favorable with dermocorticoid.

  4. Cerebral palsy. A pediatric developmentalist's overview.

    PubMed

    Vining, E P; Accardo, P J; Rubenstein, J E; Farrell, S E; Roizen, N J

    1976-06-01

    Exploration of the history, terminology, and classification of cerebral palsy reveals it as a complex entity. Criteria exist that may make early diagnosis and appropriate intervention possible. Dealing with patients who have cerebral palsy requires recognition of the associated problems and deficits. Comprehensive management usually requires a multidisciplinary setting, which is used to outline the contributions of many therapeutic modalities--developmental pediatrics, occupational and physical therapy, hearing and speech, psychology, social services, special education, ophthalamology, neurology, orthopedics and neurosurgery. The poor prognosis for full function within the community is recognized, as are areas of research that require investigation.

  5. Pediatric open globe injury: A review of the literature.

    PubMed

    Li, Xintong; Zarbin, Marco A; Bhagat, Neelakshi

    2015-01-01

    Open globe injury (OGI) is a severe form of eye trauma estimated at 2-3.8/100,000 in the United States. Most pediatric cases occur at home and are the result of sharp object penetration. The aim of this article is to review the epidemiology, diagnosis, management, and prognosis of this condition by conducting a systematic literature search with inclusion of all case series on pediatric OGI published between 1996 and 2015. Diagnosis of OGI is based on patient history and clinical examination supplemented with imaging, especially computed tomography when indicated. Few prospective studies exist for the management of OGI in pediatric patients, but adult recommendations are often followed with success. The main goals of surgical management are to repair the open globe and remove intraocular foreign bodies. Systemic antibiotics are recommended as medical prophylaxis against globe infection, or endophthalmitis. Other complications are similar to those seen in adults, with the added focus of amblyopia therapy in children. Severe vision decline is most likely due to traumatic cataracts. The ocular trauma score, a system devised to predict final visual acuity (VA) in adults, has proven to be of prognostic value in pediatric OGI as well. Factors indicating poor visual prognosis are young age, poor initial VA, posterior eye involvement, long wound length, globe rupture, lens involvement, vitreous hemorrhage, retinal detachment, and endophthalmitis. A thorough understanding of OGI and the key differences in epidemiology, diagnosis, management, and prognosis between adults and children is critical to timely prevention of posttraumatic vision loss early in life.

  6. 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.

  7. Pediatric Multiple Sclerosis: Current Concepts and Consensus Definitions

    PubMed Central

    Pena, Joaquin A.; Lotze, Timothy E.

    2013-01-01

    Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system (CNS) commonly diagnosed in adults, is being recognized increasingly in children. An estimated 1.7%–5.6% of all patients with MS have clinical symptoms before reaching the age of 18 years. In comparison with adults, the diagnosis of MS in children can be more difficult, being dismissed or misdiagnosed as other clinical disorders. Although adults and children share basic aspects of the disorder, children have distinctive clinical features, neuroimaging, laboratory, and courses of the disease. The 2010 McDonald criteria have simplified the requirements for establishing the diagnosis of MS and have been proposed to be applicable for the diagnosis of pediatric MS, mainly in children 12 years and older. This paper describes the distinctive features of common pediatric demyelinating disorders, including MS, and summarizes the most recent advances based on the available literature. PMID:24294520

  8. 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

  9. Trichoderma longibrachiatum infection in a pediatric patient with aplastic anemia.

    PubMed Central

    Munoz, F M; Demmler, G J; Travis, W R; Ogden, A K; Rossmann, S N; Rinaldi, M G

    1997-01-01

    Trichoderma longibrachiatum infection of the skin in an 11-year-old child with severe aplastic anemia and prolonged neutropenia is reported. The patient received systemic antifungal therapy and underwent bone marrow transplantation. To our knowledge, this is the first description of T. longibrachiatum infection in a pediatric patient. It also is the first case successfully treated with medical therapy. A review of the literature suggests that Trichoderma spp. are recognized as human pathogens with increasing frequency, particularly for immunocompromised patients, and should be considered in the differential diagnosis of fungal infections in the pediatric population. PMID:9003627

  10. 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.

  11. Pediatric allergy and immunology in Brazil.

    PubMed

    Rosario-Filho, Nelson A; Jacob, Cristina M; Sole, Dirceu; Condino-Neto, Antonio; Arruda, Luisa K; Costa-Carvalho, Beatriz; Cocco, Renata R; Camelo-Nunes, Inês; Chong-Neto, Herberto J; Wandalsen, Gustavo F; Castro, Ana P M; Yang, Ariana C; Pastorino, Antonio C; Sarinho, Emanuel S

    2013-06-01

    The subspecialty of pediatric allergy and immunology in Brazil is in its early years and progressing steadily. This review highlights the research developed in the past years aiming to show the characteristics of allergic and immunologic diseases in this vast country. Epidemiologic studies demonstrated the high prevalence of asthma in infants, children, and adolescents. Mortality rates and average annual variation of asthma hospitalization have reduced in all pediatric age groups. Indoor aeroallergen exposure is excessively high and contributes to the high rates of allergy sensitization. Prevalence of food allergy has increased to epidemic levels. Foods (35%), insect stings (30%), and drugs (23%) are the main etiological agents of anaphylaxis in children and adolescents. Molecular diagnosis of primary immunodeficiencies (PID) showed a high incidence of fungal infections including paracoccidioidomycosis in X-linked hyper-IgM syndrome, and the occurrence of BCG adverse reactions or other mycobacterial infections in patients with chronic granulomatous disease. Education in pediatric allergy and immunology is deficient for medical students, but residency programs are effective in training internists and pediatricians for the practice of allergy. The field of PID requires further training. Last, this review is a tribute to Prof. Dr. Charles Naspitz, one of the pioneers of our specialty in Brazil.

  12. 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 ...

  13. Update on pediatric hyperhidrosis.

    PubMed

    Gordon, Jennifer R S; Hill, Samantha E

    2013-01-01

    Hyperhidrosis is a common and under-recognized disease in the pediatric population that has a significant impact on quality of life. Focal and generalized forms of hyperhidrosis exist, which can be idiopathic or secondary to underlying medical conditions or medications. Treatment is tailored to the specific patient needs, characteristics and goals. These include topical preparations, iontophoresis, botulinum toxin and anticholinergic medications.

  14. 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...

  15. Pediatric primary gastric lymphoma.

    PubMed

    Harris, G J; Laszewski, M J

    1992-04-01

    Primary gastric lymphoma in the pediatric population is rare. We have described a case of non-Hodgkin's lymphoma (Burkitt's type) manifested as a gastric mass. Despite its rarity in children, this tumor should be treated aggressively, since long-term survival has been reported.

  16. 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…

  17. 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.

  18. Intestinal obstruction (pediatric) - slideshow

    MedlinePlus

    ... this page: //medlineplus.gov/ency/presentations/100165.htm Intestinal obstruction (pediatric) - series—Normal anatomy To use the sharing ... A.M. Editorial team. Related MedlinePlus Health Topics Intestinal Obstruction A.D.A.M., Inc. is accredited by ...

  19. 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.

  20. Surgery in Pediatric Crohn's Disease: Indications, Timing and Post-Operative Management

    PubMed Central

    2017-01-01

    Pediatric onset Crohn's disease (CD) tends to have complicated behavior (stricture or penetration) than elderly onset CD at diagnosis. Considering the longer duration of the disease in pediatric patients, the accumulative chance of surgical treatment is higher than in adult onset CD patients. Possible operative indications include perianal CD, intestinal stricture or obstruction, abdominal abscess or fistula, intestinal hemorrhage, neoplastic changes and medically untreatable inflammation. Growth retardation is an operative indication only for pediatric patients. Surgery can affect a patient's clinical course, especially for pediatric CD patient who are growing physically and mentally, so the decision should be made by careful consideration of several factors. The complex and diverse clinical conditions hinder development of a systemized treatment algorithm. Therefore, timing of surgery in pediatric CD patients should be determined with individualized approach by an experienced and well organized multidisciplinary inflammatory bowel disease team. Best long-term outcomes will require proactive post-operative monitoring and therapeutic modifications according to the conditions.

  1. Recent Developments in Pediatric Community-Acquired Pneumonia.

    PubMed

    McCulloh, Russell J; Patel, Karisma

    2016-05-01

    Community-acquired pneumonia (CAP) is the most common acute infectious cause of death in children worldwide. Consequently, research into the epidemiology, diagnosis, treatment, and prevention of pediatric CAP spans the translational research spectrum. Herein, we aim to review the most significant findings reported by investigators focused on pediatric CAP research that has been reported in 2014 and 2015. Our review focuses on several key areas relevant to the clinical management of CAP. First, we will review recent advances in the understanding of CAP epidemiology worldwide, including the role of vaccination in the prevention of pediatric CAP. We also report on the expanding role of existing and emerging diagnostic technologies in CAP classification and management, as well as advances in optimizing antimicrobial use. Finally, we will review CAP management from the policy and future endeavors standpoint, including the influence of clinical practice guidelines on clinician management and patient outcomes, and future potential research directions that are in the early stages of investigation.

  2. 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

  3. Pediatric Flexible Flatfoot; Clinical Aspects and Algorithmic Approach

    PubMed Central

    Halabchi, Farzin; Mazaheri, Reza; Mirshahi, Maryam; Abbasian, Ladan

    2013-01-01

    Flatfoot constitutes the major cause of clinic visits for pediatric foot problems. The reported prevalence of flatfoot varies widely due to numerous factors. It can be divided into flexible and rigid flatfoot. Diagnosis and management of pediatric flatfoot has long been the matter of controversy. Common assessment tools include visual inspection, anthropometric values, footprint parameters and radiographic evaluation. Most flexible flatfeet are physiologic, asymptomatic, and require no treatment. Otherwise, the physician should treat symptomatic flexible flatfeet. Initial treatment options include activity modification, proper shoe and orthoses, exercises and medication. Furthermore, comorbidities such as obesity and ligamenous laxity should be identified and managed, if applicable. When all nonsurgical treatment options faile, surgery can be considered. Our purpose in this article is to present a clinical algorithmic approach to pediatric flatfoot. PMID:23795246

  4. Pediatric palliative care: starting a hospital-based program.

    PubMed

    Schmidt, Kaye

    2011-01-01

    The value of palliative care in pediatrics has received significant attention over the past 10 years. The American Academy of Pediatrics and the Institute of Medicine published recommendations involving children who have a life-limiting diagnosis in a palliative care program early in their disease process. Palliative care is intended to assure an emphasis on quality of life in addition to the current medical treatment, which may be focused on cure, symptom management, and/or end-of-life care. This article describes one hospital's experience in planning, implementing, and managing a pediatric palliative care program. Implementing a hospital-based palliative care program in a children's hospital can be accomplished through careful planning and analysis of need. Writing an official business plan formalized the request for organizational support for this program, including the mission and vision, plans for how services would be provided, expected financial implications, and initial plans for evaluation of success.

  5. [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.

  6. Longitudinally extensive optic neuritis in pediatric patients.

    PubMed

    Graves, Jennifer; Kraus, Verena; Soares, Bruno P; Hess, Christopher P; Waubant, Emmanuelle

    2015-01-01

    Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had brain or orbit MRI within 3 months of onset and were evaluated at the University of California, San Francisco, Pediatric Multiple Sclerosis Center. Lesion length, determined by T2 hyperintensity or contrast enhancement, was blindly graded as absent, focal or longitudinally extensive (at least 2 contiguous segments of optic nerve). Of 25 subjects, 9 (36%) had longitudinally extensive optic neuritis. Extensive lesions were not associated with non-multiple sclerosis versus multiple sclerosis diagnosis (P = 1.00). No association between age and lesion extent was observed (P = .26). Prospective studies are needed to determine if longitudinally extensive optic neuritis can predict visual outcome.

  7. Recurrent parotitis as a presentation of primary pediatric Sjögren syndrome.

    PubMed

    Baszis, Kevin; Toib, Dana; Cooper, Megan; French, Anthony; White, Andrew

    2012-01-01

    Parotitis is a common condition seen in the pediatric population, usually as an isolated occurrence associated with viral or bacterial infection. The differential diagnosis expands when recurrent parotitis is encountered. One etiology is primary pediatric Sjögren syndrome (SS), an autoimmune condition typically associated with dryness of the eyes and mouth in adults. Pediatric patients often present with isolated recurrent bilateral parotitis, however, and we describe 4 such cases in children aged 9 to 17 years at presentation. Despite lack of ocular complaints, 3 of these patients had ocular findings on ophthalmologic exam. Our patients also exhibited classic laboratory abnormalities, including positive antinuclear antibody, SS A, and SS B antibodies; presence of rheumatoid factor; and hypergammaglobulinemia. Consideration of SS in the child with recurrent parotitis is important for timely and appropriate referral and treatment. We review the differential diagnosis of parotitis in children as well as the salient features of pediatric SS.

  8. Management of childhood brain tumors: consensus report by the Pediatric Hematology Oncology (PHO) Chapter of Indian Academy of Pediatrics (IAP).

    PubMed

    Bhat, Sunil; Yadav, Satya Prakash; Suri, Vaishali; Patir, Rana; Kurkure, Purna; Kellie, Stewart; Sachdeva, Anupam

    2011-12-01

    Brain tumors are the second most common childhood tumors and remain the leading cause of cancer related deaths in children. Appropriate diagnosis and management of these tumors are essential to improve survival. There are no clinical practical guidelines available for the management of brain tumors in India. This document is a consensus report prepared after a National Consultation on Pediatric Brain Tumors held in Delhi on 06 Nov 2008. The meeting was attended by eminent experts from all over the country, in the fields of Neurosurgery, Radiation Oncology, Pediatric Oncology, Neuropathology, Diagnostic Imaging, Pediatric Endocrinology and Allied Health Professionals. This article highlights that physicians looking after children with brain tumors should work as part of a multidisciplinary team to improve the survival, quality of life, neuro-cognitive outcomes and standards of care for children with brain tumors. Recommendations for when to suspect, diagnostic workup, initial management, long-term follow up and specific management of individual tumors are outlined.

  9. 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

  10. 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 ...

  11. 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 ...

  12. MULTIMODALITY TREATMENT OF PEDIATRIC ESTHESIONEUROBLASTOMA

    PubMed Central

    Venkatramani, Rajkumar; Pan, Hubert; Furman, Wayne L.; Marron, Jonathan M.; Haduong, Josephine; Friedrich-Medina, Paola; Mahajan, Anita; Bavle, Abhishek; Wu, Hao; Chintagumpala, Murali

    2016-01-01

    Background Esthesioneuroblastoma (ENB) is a rare cancer of the nasal cavity in children. Radical surgery followed by post-operative radiation is considered the standard of care in adults. A similar approach in children can lead to significant long-term morbidity. Procedure A retrospective multi-institutional review of patients <21 years of age diagnosed with ENB between 1990 and 2014 was performed. Clinical features, treatment and outcome were obtained from the medical records. Results Twenty-four patients were identified; median age at diagnosis was 14 years (range 0.6 – 20 years). The majority (75%) were female. Headache was the most common presenting symptom, followed by nasal obstruction and epistaxis. Eight patients had Kadish stage B tumors and 16 had Kadish Stage C. Nine patients had metastatic disease. Gross total resection was achieved at diagnosis in eight patients and after neoadjuvant chemotherapy in four patients. Twenty-one patients received radiation therapy (45 Gy – 68.4 Gy). Thirteen patients received neoadjuvant chemotherapy with 84% objective response rate. Seven patients experienced disease progression or relapse; five in central nervous system, one local and one in cervical lymph node. Fifteen patients were alive at last follow-up. The 5-year disease free survival and overall survival were 74% and 73% respectively. Late effects were observed in 78% of long-term survivors. Four patients developed subsequent malignant neoplasms. Conclusions Pediatric ENB is a chemosensitive disease. Pre-operative chemotherapy based multimodal approach should be used in patients with advanced stage disease. Radiation therapy is effective for local control but lower doses should be considered in children. PMID:26514449

  13. Manifestations of pediatric appendicopathia oxyurica.

    PubMed

    Jordan, Mary M; Sanders, Jennifer E; Stallworth, Christina R; Russell, Scott; Titus, Olivia; Hill, Jeanne G; Cina, Robert A

    2013-09-01

    Enterobius vermicularis is a parasite that inhabits the human digestive tract. We present two pediatric patients with symptoms mimicking acute appendicitis who were found to have E. vermicularis infection. The first case is a 5-year-old female who presented with flank and abdominal pain associated with low-grade fever and anorexia. She had localized tenderness in the right lower quadrant and a leukocytosis with left shift. Intraoperative findings included a normal-appearing appendix, but ex vivo examination revealed Enterobius vermicularis. The second case is a 7-year-old female who presented with periumbilical abdominal pain, anorexia, and emesis. She had tenderness at McBurney's point, and ultrasound revealed a small echogenic focus within the appendix. Intraoperatively, the distal tip of the appendix appeared inflamed. Again, ex vivo examination revealed E. vermicularis. Enterobius vermicularis infection of the appendix can present with a clinical picture similar to acute appendicitis. In at-risk populations, it should be included in the differential diagnosis for children with right lower quadrant abdominal pain. Complete therapy requires treatment with mebendazole.

  14. Pediatric robotic urologic surgery-2014.

    PubMed

    Kearns, James T; Gundeti, Mohan S

    2014-07-01

    We seek to provide a background of the current state of pediatric urologic surgery including a brief history, procedural outcomes, cost considerations, future directions, and the state of robotic surgery in India. Pediatric robotic urology has been shown to be safe and effective in cases ranging from pyeloplasty to bladder augmentation with continent urinary diversion. Complication rates are in line with other methods of performing the same procedures. The cost of robotic surgery continues to decrease, but setting up pediatric robotic urology programs can be costly in terms of both monetary investment and the training of robotic surgeons. The future directions of robot surgery include instrument and system refinements, augmented reality and haptics, and telesurgery. Given the large number of children in India, there is huge potential for growth of pediatric robotic urology in India. Pediatric robotic urologic surgery has been established as safe and effective, and it will be an important tool in the future of pediatric urologic surgery worldwide.

  15. Acanthosis Nigricans Associated with an Adrenocortical Tumor in a Pediatric Patient

    PubMed Central

    Dimitriadi, Filippina Filia; Barrows, Frank; Mostoufi-Moab, Sogol

    2013-01-01

    Malignant acanthosis nigricans (AN) is a rare paraneoplastic syndrome seen primarily in adults with an underlying diagnosis of gastrointestinal adenocarcinoma. Malignant AN is characterized by hyperpigmentation and velvety hyperplasia of the epidermis. This condition is generally not associated with tumors in pediatric populations or in the adrenal gland. We present a case of malignant AN in a pediatric patient with a nonmalignant, functional adrenocortical tumor. PMID:23819073

  16. Acanthosis nigricans associated with an adrenocortical tumor in a pediatric patient.

    PubMed

    Isaacoff, Elizabeth; Dimitriadi, Filippina Filia; Barrows, Frank; Pawel, Bruce; Mattei, Peter; Mostoufi-Moab, Sogol

    2013-01-01

    Malignant acanthosis nigricans (AN) is a rare paraneoplastic syndrome seen primarily in adults with an underlying diagnosis of gastrointestinal adenocarcinoma. Malignant AN is characterized by hyperpigmentation and velvety hyperplasia of the epidermis. This condition is generally not associated with tumors in pediatric populations or in the adrenal gland. We present a case of malignant AN in a pediatric patient with a nonmalignant, functional adrenocortical tumor.

  17. MR imaging of congenital/developmental and acquired disorders of the pediatric hip and pelvis.

    PubMed

    Dillon, Johanne E; Connolly, Susan A; Connolly, Leonard P; Kim, Young-Jo; Jaramillo, Diego

    2005-11-01

    This article reviews the MR imaging findings of some of the more common congenital and acquired disorders of the pediatric hip and pelvis,with the intent of increasing the awareness of radiologists and facilitating early and accurate diagnosis and treatment. The importance of MR imaging in the pediatric population is underscored by its ability to evaluate these disorders well and without the use of ionizing radiation.

  18. 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

  19. Diagnosis and management of diaper dermatitis.

    PubMed

    Shin, Helen T

    2014-04-01

    This article presents an overview of diaper dermatitis for the pediatric community. The pathogenesis, differential diagnosis, and management of this common condition in infancy are reviewed. This information will assist in making the appropriate diagnosis and managing this irritant contact dermatitis of the diaper area. With conservative management, most cases of irritant diaper dermatitis are self-limited. When the condition persists, one must consider other diagnoses.

  20. 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.