WorldWideScience

Sample records for pediatric neurological syndromes

  1. Pediatric neurological syndromes and inborn errors of purine metabolism.

    Science.gov (United States)

    Camici, Marcella; Micheli, Vanna; Ipata, Piero Luigi; Tozzi, Maria Grazia

    2010-02-01

    This review is devised to gather the presently known inborn errors of purine metabolism that manifest neurological pediatric syndromes. The aim is to draw a comprehensive picture of these rare diseases, characterized by unexpected and often devastating neurological symptoms. Although investigated for many years, most purine metabolism disorders associated to psychomotor dysfunctions still hide the molecular link between the metabolic derangement and the neurological manifestations. This basically indicates that many of the actual functions of nucleosides and nucleotides in the development and function of several organs, in particular central nervous system, are still unknown. Both superactivity and deficiency of phosphoribosylpyrophosphate synthetase cause hereditary disorders characterized, in most cases, by neurological impairments. The deficiency of adenylosuccinate lyase and 5-amino-4-imidazolecarboxamide ribotide transformylase/IMP cyclohydrolase, both belonging to the de novo purine synthesis pathway, is also associated to severe neurological manifestations. Among catabolic enzymes, hyperactivity of ectosolic 5'-nucleotidase, as well as deficiency of purine nucleoside phosphorylase and adenosine deaminase also lead to syndromes affecting the central nervous system. The most severe pathologies are associated to the deficiency of the salvage pathway enzymes hypoxanthine-guanine phosphoribosyltransferase and deoxyguanosine kinase: the former due to an unexplained adverse effect exerted on the development and/or differentiation of dopaminergic neurons, the latter due to a clear impairment of mitochondrial functions. The assessment of hypo- or hyperuricemic conditions is suggestive of purine enzyme dysfunctions, but most disorders of purine metabolism may escape the clinical investigation because they are not associated to these metabolic derangements. This review may represent a starting point stimulating both scientists and physicians involved in the study of

  2. Child Neurology Education for Pediatric Residents.

    Science.gov (United States)

    Albert, Dara V F; Patel, Anup D; Behnam-Terneus, Maria; Sautu, Beatriz Cunill-De; Verbeck, Nicole; McQueen, Alisa; Fromme, H Barrett; Mahan, John D

    2017-03-01

    The aim of this study was to evaluate whether the current state of child neurology education during pediatric residency provides adequate preparation for pediatric practice. A survey was sent to recent graduates from 3 pediatric residency programs to assess graduate experience, perceived level of competence, and desire for further education in child neurology. Responses from generalists versus subspecialists were compared. The response rate was 32%, half in general pediatric practice. Only 22% feel very confident in approaching patients with neurologic problems. This may represent the best-case scenario as graduates from these programs had required neurology experiences, whereas review of Accreditation Council of Graduate Medical Education-accredited residency curricula revealed that the majority of residencies do not. Pediatric neurologic problems are common, and pediatric residency graduates do encounter such problems in practice. The majority of pediatricians report some degree of confidence; however, some clear areas for improvement are apparent.

  3. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology.

    Science.gov (United States)

    Pearl, Phillip L; McConnell, Emily R; Fernandez, Rosamary; Brooks-Kayal, Amy

    2014-09-01

    The optimal academic home for child neurology programs between adult neurology versus pediatric departments remains an open question. The Professors of Child Neurology, the national organization of child neurology department chairs, division chiefs, and training program directors, was surveyed to evaluate the placement of child neurology programs. Professors of Child Neurology members were surveyed regarding the placement of child neurology programs within adult neurology versus pediatric departments. Questions explored academic versus clinical lines of reporting and factors that may be advantages and disadvantages of these affiliations. Issues also addressed were the current status of board certification and number of clinics expected in academic child neurology departments. Of 120 surveys sent, 95 responses were received (79% response rate). The primary academic affiliation is in neurology in 54% of programs versus 46% in pediatrics, and the primary clinical affiliation is 45% neurology and 55% pediatrics. Advantages versus disadvantages of one's primary affiliation were similar whether the primary affiliation was in neurology or pediatrics. While 61% of respondents are presently board certified in pediatrics, only 2% of those with time-limited certification in general pediatrics plan to be recertified going forward. Typically six to eight half-day clinics per week are anticipated for child neurologists in academic departments without additional funding sources. Overall, leaders of child neurology departments and training programs would not change their affiliation if given the opportunity. Advantages and disadvantages associated with current affiliations did not change whether child neurology was located in neurology or pediatrics. Board certification by the American Board of Psychiatry and Neurology in child neurology is virtually universal, whereas pediatric board certification by the American Board of Pediatrics is being maintained by very few. Most academic

  4. History of pediatric neurology in Poland.

    Science.gov (United States)

    Steinborn, Barbara; Józwiak, Sergiusz

    2010-02-01

    This review presents the past and the present of pediatric neurology in Poland. Pediatric neurology has its roots in Polish general neurology represented by many outstanding scientists. The founder of Polish school of neurology at the end of 19th century was Edward Flatau, known as the author of Flatau's law. The most famous Polish neurologist was Joseph Babiński, recognized for the first description of pathological plantar reflex. First Polish publication related to child neurology was Brudziński's report on a new meningeal symptom (the flexion of lower limbs during passive neck flexion with pain in neck). Contemporary child neurology in Poland was created by Professor Zofia Majewska after the Second World War. Now 10 academic centers of child neurology exist in Poland fulfilling educational, scientific, and therapeutic roles. Polish Society of Child Neurology was established in 1991 and now there are about 580 members, including 300 child neurologists.

  5. Inventory of pediatric neurology "manpower" in Canada.

    Science.gov (United States)

    Keene, Daniel L; Humphreys, Peter

    2005-08-01

    To review the demographics and workload characteristics of pediatric neurology in Canada. A standardized survey questionnaire was mailed out to practicing pediatric neurologists in Canada in 2001. Variables examined were age, gender, hours on call, regular hours worked per week, type of practice and projected changes in practice over next five to ten years. Results were compared to the 1994 Pediatric Neurology Manpower Survey which had used the same survey instrument. Fifty-six (70%) pediatric neurologists practicing in Canada returned the survey. As was the case in 1994, no significant differences in workload were found based on age or gender. The average age of the practicing pediatric neurologist in 2001 was 51 years compared to 45 years in 1994. The proportion of physicians over 55 years in 2001 was 35% compared to 25% in 1994. Pediatric neurology in Canada is an aging specialty needing a significant recruitment of new members

  6. [Neurologic aspects of vibration syndrome].

    Science.gov (United States)

    Langauer-Lewowicka, H; Zajac-Nedza, M

    1997-01-01

    The authors present divergent opinions on the pathogenesis of vibratory syndrome, and primarily on its angio-neurological form, i.e. vascular, neurogenic and immunological theory. In the light of these concepts the clinical manifestations of vibratory syndrome are discussed in view of both systemic and local developments. The issues concerning neurological diagnostics with reference to the usefulness of electrophysiological methods are thoroughly analysed. Difficulties in early diagnosis and identification of symptoms that distinguish vibratory syndrome from other syndromes with similar manifestations are highlighted.

  7. Perception of pediatric neurology among non-neurologists.

    Science.gov (United States)

    Jan, Mohammed M S

    2004-01-01

    Pediatric neurology is considered a relatively new and evolving subspecialty. In Saudi Arabia, neurologic disorders in children are common, and the demand for trained pediatric neurologists is strong. The aim was to study the perception of the pediatric neurology specialty among practicing generalists and their referral practices. Attendees of a symposium on pediatric epilepsy comprehensive review for the generalist were included. A structured 25-item questionnaire was designed to examine their demographics, training, practice, and referral patterns. One hundred nineteen participants attended the symposium, and 90 (76%) questionnaires were returned. Attendees' ages were 22 to 70 years (mean 32 years), with 65.5% female physicians. There were 32% consultants, 51% trainees, and 17% students. Most physicians (67%) were practicing general pediatrics. Only 36% received a structured pediatric neurology rotation during training. Children with neurologic complaints constituted 28.5% of those seen in their practice, and they referred 32.5% of them to pediatric neurology. Only 32% were moderately or highly confident in making the diagnosis or providing the appropriate treatment. Those who received a structured pediatric neurology rotation felt more comfortable in their management (P = .03). Many physicians (38.5%) had no direct access to a pediatric neurologist for referrals. To conclude, pediatric neurologic disorders are common in daily practice. Most generalists did not receive a structured neurology rotation during their training and were not highly confident in diagnosing and treating these children. Given the limited number of pediatric neurologists, I highly recommend that generalists receive appropriate neurologic training.

  8. Comparative audit of clinical research in pediatric neurology.

    Science.gov (United States)

    Al-Futaisi, Amna; Shevell, Michael

    2004-11-01

    Clinical research involves direct observation or data collection on human subjects. This study was conducted to evaluate the profile of pediatric neurology clinical research over a decade. Trends in pediatric neurology clinical research were documented through a systematic comparative review of articles published in selected journals. Eleven journals (five pediatric neurology, three general neurology, three general pediatrics) were systematically reviewed for articles involving a majority of human subjects less than 18 years of age for the years 1990 and 2000. Three hundred thirty-five clinical research articles in pediatric neurology were identified in the 11 journals for 1990 and 398 for 2000, a 19% increase. A statistically significant increase in analytic design (21.8% vs 39.5%; P = .01), statistical support (6% vs 16.6%; P neurology over a decade. Trends apparently suggest a more rigorous approach to study design and investigation in this field.

  9. [Autoantibodies in Paraneoplastic Neurological Syndrome].

    Science.gov (United States)

    Kawachi, Izumi

    2018-04-01

    Paraneoplastic neurological syndromes (PNS) are caused by immune responses against neuronal antigens expressed by the tumor. Based on the immunological pathomechanisms and responsiveness of treatments, onconeuronal antibodies are divided into two categories: 1) antibodies against neural intracellular antigens and 2) antibodies against neuronal surface or synaptic antigens. The recent discovery of onconeuronal antibodies have radically changed concepts of CNS autoimmunity, including PNS. The recognition of PNS provides a foundation for the early detection of underlying tumors and initiations of prompt treatments, which can result in substantial improvement. We here review the characteristic onconeuronal antibodies, including anti-Hu, anti-Ma2, and anti-N-methyl-D-aspartate receptor, and discuss the algorithm for the diagnosis of PNS.

  10. Magnetic resonance imaging in pediatric neurological disease

    International Nuclear Information System (INIS)

    Tsukiyama, Takashi; Nishimoto, Hiroshi; Fujioka, Mutsuhisa; Aihara, Toshinori; Tanaka, Osamu.

    1986-01-01

    In this paper, we summarize our initial experience with Magnetic Resonance Imaging(MRI) in the evaluation of pediatric neurological disease. 17 children between the ages of 2 month and 8.5 year have been examined with MRI. All subjects tolerated the MRI procedure well, although sedation was necessary for young children. Result as follows : (1) MRI does not utilize ionising radiation to produce an image. (2) MRI images more clearly demonstrate cerebral gray and white matter than X-ray CT. (3) Compared with X-ray CT, MRI proved to be advantageous in detection and characterization of the pathology, especially when the abnormality was located along the posterior fossa and spinal canal. It is suggested that these nature of MRI makes it the ideal diagnostic method for children. (author)

  11. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  12. The beginnings of the Southern Child/Pediatric Neurology Society.

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    Dyken, Paul Richard; Bodensteiner, John B

    2015-04-01

    The founding and early development of the Southern Pediatric Neurology Society was in many ways parallel to that of the Child Neurology Society. The organization started out as the Southern Child Neurology Society but the name was changed at the time of incorporation so as to avoid confusion of identity and purpose with the larger Child Neurology Society. Although there are archives of early days and the later development of the Southern Pediatric Neurology Society, the details have never been set down in a narrative explaining the events that led to the development of the organization. In this paper, we try to produce a written record of the history of the founding and early development of the Southern Pediatric Neurology Society. © The Author(s) 2014.

  13. MR angiography in pediatric neurological disorders

    International Nuclear Information System (INIS)

    Lee, B.C.P.; Park, T.S.; Kaufman, B.A.

    1995-01-01

    MR angiography using 3D and 2D time-of-flight techniques were used to evaluate pediatric neurological disorders. MRA (arteriography) and MRV (venography) were abnormal in 63 and 45 cases, respectively. Conventional cerebral angiography was performed in 30 cases. These techniques were compared with MRI and conventional angiography. In addition, the value of MR angiography for surgical planning was subjectively evaluated. Our results showed that intracranial vessels were invariably better shown on MR angiography than on MRI. MRA and MRV were most useful in evaluating vascular distortions related to congenital brain malformations and intracranial tumors. MRA was valuable in detecting arterial narrowing but overestimated the degree of stenosis compared with conventional angiography. MRV was the technique of choice for evaluation of dural sinus and cerebral venous thrombosis and compression. MRA played little to no role in preoperative planning of vascular malformations and aneurysms. It did not appear to be accurate in assessing tumor vascularity or lesions in small arteries and arteritis. (orig.)

  14. Cotard syndrome in neurological and psychiatric patients.

    Science.gov (United States)

    Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F

    2010-01-01

    The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

  15. 2015 Relaunch as Open Access Pediatric Neurology Briefs

    OpenAIRE

    Millichap, John J.; Millichap, J. Gordon

    2015-01-01

    Pediatric Neurology Briefs (PNB) has been published monthly since 1987 as a continuing education service designed to expedite and facilitate review of current medical literature concerning pediatric neurology. In 2015, PNB is relaunched as an open access, peer-reviewed, journal with an expanded editorial board.  PNB has a new website and content management system capable of organizing peer-review and providing improved...

  16. 2015 Relaunch as Open Access Pediatric Neurology Briefs.

    Science.gov (United States)

    Millichap, John J; Millichap, J Gordon

    2015-01-01

    Pediatric Neurology Briefs (PNB) has been published monthly since 1987 as a continuing education service designed to expedite and facilitate review of current medical literature concerning pediatric neurology. In 2015, PNB is relaunched as an open access, peer-reviewed, journal with an expanded editorial board. PNB has a new website and content management system capable of organizing peer-review and providing improved indexing, DOI assignment, and online full-text article view. Digitization of back issues, archiving, and inclusion in PubMed are future goals. The new online open access PNB aims to reach more physicians, researchers, and other healthcare providers with highlights of the latest advances in pediatric neurology and commentaries by specialists in the field.

  17. ACETAZOLAMIDE IN PEDIATRIC NEUROLOGY: HISTORY AND PERSPECTIVE OF CILNICAL USE

    OpenAIRE

    A.N. Boyko; E.I. Gusev; O.V. Bykova; L.M. Kuzenkova; O.I. Maslova

    2006-01-01

    Resume the up tob date pharmacological and clinical findings have revealed new opportunities for the use of known for a long time pharmaceutical agents in various fields of practical medicine. For more than 50 years acetozolamide, systemic carbonic anhydrase inhibitor, has been used in neurology to correct liquorodynamic disorders. High clinical efficacy and good tolerb ability in longbterm use has made acetazolamide an essential agent in pediatric neurology, along with this the true therapeu...

  18. Burnout Syndrome in Pediatric Practice

    OpenAIRE

    Al-Youbi, Reem A.; Jan, Mohammed M.

    2013-01-01

    Objectives: Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics.Methods: A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabi...

  19. Complementary and alternative medicine use in a pediatric neurology clinic.

    Science.gov (United States)

    Aburahma, Samah K; Khader, Yousef S; Alzoubi, Karem; Sawalha, Noor

    2010-08-01

    To evaluate the frequency and determinants of complementary and alternative medicine (CAM) use in children attending a pediatric neurology clinic in North Jordan, a parent completed questionnaire survey of children attending the pediatric neurology clinic at King Abdullah University Hospital from March to July 2008 was conducted. A review of 176 completed questionnaires showed that 99 parents (56%) had used CAM for their child's specific neurological illness. The most common modalities were prayer/reciting the Quran (77%), religious healers (30%), massage with olive oil (32%), and consumption of honey products (29%). The most common reason was religious beliefs in 68%. None reported lack of trust in conventional medicine as the reason behind seeking CAM. Factors significantly associated with CAM use were speech delay, belief in its usefulness, father's age more than 30 years, and mothers with education less than high school. CAM had a supplementary role in relation to traditional western medicine use. Copyright 2010 Elsevier Ltd. All rights reserved.

  20. Medical genetic issues in clinical of pediatric neurology practice:a history of pediatrics in Peking University First Hospital.

    Science.gov (United States)

    Wu, Xi-ru

    2006-02-18

    The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history. It was established about 60 years ago. After the division of pediatric neurology (DPN) had been established in 1960s, it had been assigned to cover genetic disorders. During the recent 20 years, efforts have been put on three aspects: (1) Pediatric neurology clinical service and education; (2) research studies of childhood epilepsies and pediatric neurogenetic disorders; and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program. In this paper, we reviewed the history of the pediatric neurology division in our department, our clinical and research work and achievements for neurogenetic diseases.

  1. Differences in characteristics among new pediatric neurology patients: the effect of a newly established private pediatric neurology practice.

    Science.gov (United States)

    Van Cleave, Jeanne; Woodruff, Brian; Freed, Gary L

    2008-01-01

    To investigate changes in volume and characteristics of new patients referred when a private pediatric neurology practice (PP) opened in 2004 in an area served primarily by an academic medical center's (AMC) pediatric neurology practice. Retrospective analysis of medical and billing records to examine changes in volume, diagnosis, and sociodemographic factors of new patients at the AMC from July 2004 to June 2005; the PP during the same period; and the AMC during the year before. One year after the PP opened, 40% more new pediatric neurology patients were seen in this area than the year before. Compared with the AMC, PP saw a greater proportion of seizures (34% vs 26%, P 20 miles from the practice (32% vs 64%, P pediatric neurology patients in this area. After the PP opened, the AMC continued to care for most patients with rare diseases and fewer financial resources. Future research should examine whether the increase in volume reflects relief of pent-up demand or increased referral rates due to eased access, and should elucidate how differences in patient populations at academic and private subspecialty practices relate to access to subspecialty care and financial well-being of academic practices.

  2. Pediatric neurology training in Canada: current status and future directions.

    Science.gov (United States)

    Doja, Asif

    2012-05-01

    Child neurology training in Canada has changed considerably over time, with increasing requirements for standardized teaching of the fundamentals of child neurology and the CanMEDS competencies. We sought to determine the current status of child neurology training in Canada as well future directions for training. A web-based survey was sent to program directors (PD's) of active pediatric neurology training programs. General questions about the programs were asked, as well as about success at the Royal College of Physicians and Surgeons of Canada (RCPSC) exam, breakdown of rotations, views on CanMEDS roles and questions on the future of pediatric neurology. 9/9 PD's completed the survey. 96.5% of all trainees successfully passed their RCPSC exam from 2001-2006. Breakdowns of the number and type of rotations for each year of training were provided. All CanMEDS roles were deemed to be important by PD's and programs have developed unique strategies to teach and assess these roles.92.6% of trainees chose to go into academic practice, with the most popular subspecialty being epilepsy. All PD's favour joint training sessions particularly for neurogenetics and neuromuscular disease. Overall, PD's suggest recruitment for future child neurologists at the medical student level but are divided as to whether we are currently training too few or too many child neurologists. This survey provides a view of the current state of pediatric neurology training in Canada and suggestions for further development of post-graduate training. In particular, attention should be given to joint educational programs as well as urgently assessing the manpower needs of child neurologists.

  3. Paraneoplastic neurologic syndrome: A practical approach

    Directory of Open Access Journals (Sweden)

    Sudheeran Kannoth

    2012-01-01

    Full Text Available Paraneoplastic neurological syndromes (PNS are rare disorders associated with cancer, not caused by direct invasion, metastasis or consequences of treatment. They are usually autoimmune in nature. Often, PNS precedes the manifestations of cancer. Onconeural antibodies are important in the diagnosis and management of these disorders. These antibodies are specific for the malignancy rather than for a particular neurological syndrome. Often, there are different antibodies associated with the same syndrome. Multiple antibodies are also known to coexist in a given patient with malignancy. While investigating a patient for suspected PNS, the entire gamut of onconeural antibodies should be investigated so as not to miss the diagnosis. In 30-40% of the cases, PNS can occur without antibodies. Investigations for identifying the underlying cancer can be directed by the antibody panel. If conventional screening for cancer is negative, a positron emission scanning/computed tomography scan can be useful. Patients need follow-up surveillance for cancer if not detected in the first instance. Cancer detection and treatment, immunotherapy and supportive care are important components of treatment of PNS. Immunotherapy is very effective in PNS associated with cell membrane-associated antibodies like voltage-gated potassium channel complex, NMDA receptor antibodies and voltage-gated calcium channel antibodies. Immunotherapy includes steroids, IVIgG, plasmaphereis, cytotoxic medications and rituximab. Supportive therapy includes symptomatic treatment with antiepileptic and analgesic medications, physiotherapy, speech therapy and occupational therapy. PNS can mimic any neurologic syndrome. A high index of clinical suspicion is important for early diagnosis and prompt management and better outcome.

  4. Burnout Syndrome in Pediatric Practice

    Directory of Open Access Journals (Sweden)

    Reem A. Al-Youbi

    2013-07-01

    Full Text Available Objectives: Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics.Methods: A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabia was conducted utilizing the Maslach Burnout Inventory in addition to questions regarding work-related and lifestyle-related factors.Results: One hundred and thirty pediatricians (55% females were included with age ranging between 25 and 45 years (mean: 30. Most (46% were consultants and 54% practiced in a university based setting. Burnout scores were abnormal in 107 (82% and in 45 (34% the syndrome was severe. Males were more likely to reach a severe burnout category compared to females (40% vs. 31%; p=0.012. Academic pediatricians working in a university setting were much more likely to experience severe burnout compared to their counterparts working in other hospitals (50% vs. 19%; p=0.0005. Consultants were also more likely to experience severe burnout compared to residents and assistants (46% vs. 27%; p=0.03.Conclusion: At least one third of practicing pediatricians suffer from burnout syndrome. Specific strategies should be developed and implemented to limit and prevent professional burnout.

  5. Burnout syndrome in pediatric practice.

    Science.gov (United States)

    Al-Youbi, Reem A; Jan, Mohammed M

    2013-07-01

    Burnout is a common work-related syndrome consisting of emotional exhaustion, depersonalization and diminished feelings of personal accomplishment. Burnout influences the performance and efficiency of the healthcare professionals and therefore the quality of the care provided. This study aims to assess the burnout rates and potential determinants in pediatrics. A cross-sectional, descriptive study involving physicians practicing pediatrics in the Jeddah area of Saudi Arabia was conducted utilizing the Maslach Burnout Inventory in addition to questions regarding work-related and lifestyle-related factors. One hundred and thirty pediatricians (55% females) were included with age ranging between 25 and 45 years (mean: 30). Most (46%) were consultants and 54% practiced in a university based setting. Burnout scores were abnormal in 107 (82%) and in 45 (34%) the syndrome was severe. Males were more likely to reach a severe burnout category compared to females (40% vs. 31%; p=0.012). Academic pediatricians working in a university setting were much more likely to experience severe burnout compared to their counterparts working in other hospitals (50% vs. 19%; p=0.0005). Consultants were also more likely to experience severe burnout compared to residents and assistants (46% vs. 27%; p=0.03). At least one third of practicing pediatricians suffer from burnout syndrome. Specific strategies should be developed and implemented to limit and prevent professional burnout.

  6. [Prevalence of neurological disorders among children with Down syndrome].

    Science.gov (United States)

    Gaete, Beatriz; Mellado, Cecilia; Hernández, Marta

    2012-02-01

    Neurological disturbances are common problems in children with Down Syndrome (DS). To determine the prevalence of neurological disorders affecting children with Down Syndrome. Review of medical records of 253 children aged from 1 day to 23 years affected with DS, attended at a public hospital and a University clinic. The overall prevalence of neurological disorders was 38.7%. The most common problems were ocular motor disorders in 26% of cases and epilepsy in 12%. Neurological disorders are more common in children with DS than in the general population. Motor ocular disorders and epilepsy are the predominant disturbances detected.

  7. Neurological Disorders in Primary Sjögren's Syndrome

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    Gabriel J. Tobón

    2012-01-01

    Full Text Available Sjögren's syndrome is an autoimmune disease characterized by an autoimmune exocrinopathy involving mainly salivary and lacrimal glands. The histopathological hallmark is periductal lymphocytic infiltration of the exocrine glands, resulting in loss of their secretory function. Several systemic manifestations may be found in patients with Sjögren's syndrome including neurological disorders. Neurological involvement ranges from 0 to 70% among various series and may present with central nervous system and/or peripheral nervous system involvement. This paper endeavors to review the main clinical neurological manifestations in Sjögren syndrome, the physiopathology, and their therapeutic response.

  8. Metabolic syndrome as a risk factor for neurological disorders.

    Science.gov (United States)

    Farooqui, Akhlaq A; Farooqui, Tahira; Panza, Francesco; Frisardi, Vincenza

    2012-03-01

    The metabolic syndrome is a cluster of common pathologies: abdominal obesity linked to an excess of visceral fat, insulin resistance, dyslipidemia and hypertension. At the molecular level, metabolic syndrome is accompanied not only by dysregulation in the expression of adipokines (cytokines and chemokines), but also by alterations in levels of leptin, a peptide hormone released by white adipose tissue. These changes modulate immune response and inflammation that lead to alterations in the hypothalamic 'bodyweight/appetite/satiety set point,' resulting in the initiation and development of metabolic syndrome. Metabolic syndrome is a risk factor for neurological disorders such as stroke, depression and Alzheimer's disease. The molecular mechanism underlying the mirror relationship between metabolic syndrome and neurological disorders is not fully understood. However, it is becoming increasingly evident that all cellular and biochemical alterations observed in metabolic syndrome like impairment of endothelial cell function, abnormality in essential fatty acid metabolism and alterations in lipid mediators along with abnormal insulin/leptin signaling may represent a pathological bridge between metabolic syndrome and neurological disorders such as stroke, Alzheimer's disease and depression. The purpose of this review is not only to describe the involvement of brain in the pathogenesis of metabolic syndrome, but also to link the pathogenesis of metabolic syndrome with neurochemical changes in stroke, Alzheimer's disease and depression to a wider audience of neuroscientists with the hope that this discussion will initiate more studies on the relationship between metabolic syndrome and neurological disorders. © Springer Basel AG 2011

  9. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  10. [Neurological syndromes associated with homocystein dismetabolism].

    Science.gov (United States)

    Shirokov, E A; Leonova, S F

    2006-01-01

    The article summarizes the results of clinical, neurological, and laboratory examination of patients with hyperhomocysteinemia. The data obtained suggest the existence of common pathobiochemical mechanisms of homocystein, cholesterol, and myelin dysmetabolism. The authors demonstrate that neurological manifestations of hyperhomocysteinemia are associated with the processes of demyelinization in the central and peripheral nervous systems.

  11. Regional cerebral blood flow in various pediatric neurological patients using 123I-IMP SPECT

    International Nuclear Information System (INIS)

    Konishi, Tohru; Naganuma, Yoshihiro; Hongou, Kazuhisa; Murakami, Miyako; Yamatani, Miwa; Okada, Toshio

    1988-01-01

    The recent development of a new radiopharmaceutical 123 I-isopropyl-iodoamphetamine (IMP), which is taken up by the brain from the blood flow, has offered a possibility of constructing scintigraphy maps of regional cerebral blood flow (rCBF) using single photon emission CT. We used this mehtod in various pediatric neurological diseases. Six patients with cerebro-vascular disorders (moya-moya disease 2, infarction 3 and HHE syndrome 1), 6 patients with infectious diseases of CNS (acute encephalitis 4, septic meningitis 1 and SSPE 1) and a miscellaneous group of six patients were studied. The rCBF abnormalities in cerebro-vascular diseases were more extensive and frequent than x-ray CT abnormalities. Repeated studies of IMP-SPECT revealed usefulness for the understanding of changeable hemodynamic pathophysiology and for the judgment of theraptic effectiveness and prognosis. The rCBF decrease in infectious diseases tended to be more diffuse and slight than that in cerebro-vascular diseases. In almost all patients, the area of rCBF decrease coincided with the area of EEG slowing evaluated by EEG topographic analysis. Brain imaging using 123 I-IMP SPECT may reveal functional abnormalities as well as organic lesions. 123 I-IMP SPECT has introduced a new era for the useful application of nuclear medicine to the investigation of pediatric neurological diseases. (author)

  12. Regional cerebral blood flow in various pediatric neurological patients using /sup 123/I-IMP SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Konishi, Tohru; Naganuma, Yoshihiro; Hongou, Kazuhisa; Murakami, Miyako; Yamatani, Miwa; Okada, Toshio

    1988-03-01

    The recent development of a new radiopharmaceutical /sup 123/I-isopropyl-iodoamphetamine (IMP), which is taken up by the brain from the blood flow, has offered a possibility of constructing scintigraphy maps of regional cerebral blood flow (rCBF) using single photon emission CT. We used this mehtod in various pediatric neurological diseases. Six patients with cerebro-vascular disorders (moya-moya disease 2, infarction 3 and HHE syndrome 1), 6 patients with infectious diseases of CNS (acute encephalitis 4, septic meningitis 1 and SSPE 1) and a miscellaneous group of six patients were studied. The rCBF abnormalities in cerebro-vascular diseases were more extensive and frequent than x-ray CT abnormalities. Repeated studies of IMP-SPECT revealed usefulness for the understanding of changeable hemodynamic pathophysiology and for the judgment of theraptic effectiveness and prognosis. The rCBF decrease in infectious diseases tended to be more diffuse and slight than that in cerebro-vascular diseases. In almost all patients, the area of rCBF decrease coincided with the area of EEG slowing evaluated by EEG topographic analysis. Brain imaging using /sup 123/I-IMP SPECT may reveal functional abnormalities as well as organic lesions. /sup 123/I-IMP SPECT has introduced a new era for the useful application of nuclear medicine to the investigation of pediatric neurological diseases.

  13. Comparison Between Impact Factor, Eigenfactor Metrics, and SCimago Journal Rank Indicator of Pediatric Neurology Journals

    OpenAIRE

    Kianifar, Hamidreza; Sadeghi, Ramin; Zarifmahmoudi, Leili

    2014-01-01

    Background: Impact Factor (IF) as a major journal quality indicator has a series of shortcomings including effect of self-citation, review articles, total number of articles, etc. In this study, we compared 4 journals quality indices ((IF), Eigenfactor Score (ES), Article Influence Score (AIS) and SCImago Journal Rank indicator (SJR)) in the specific Pediatric Neurology journals. Methods: All ISI and Scopus indexed specific Pediatric Neurology journals were compared regarding their 2011 IF, E...

  14. Rett syndrome: Neurologic and metabolic aspects

    NARCIS (Netherlands)

    Hagebeuk, E.E.O.

    2013-01-01

    Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1954 by Andreas Rett, an Australian neuropediatrician. After a period of apparently normal development, affected patients experience loss of speech and purposeful handuse, stereotypic

  15. A Rare Neurological Involvement in Sjogrens Syndrome: Abducens Nerve Palsy

    Directory of Open Access Journals (Sweden)

    Yunus Ugan

    2016-05-01

    Full Text Available Sjogren%u2019s syndrome (SS is an autoimmune disorder characterized by lymphocytic infiltration of exocrine organs. Although neurological involvement occurs in approximately one quarter of patients, involvement of cranial nerves is a relatively rare occurrence. Here a rare case of cranial neuropathy related to SS is reported.

  16. Guillain Barre syndrome as a manifestation of neurological melioidosis

    Directory of Open Access Journals (Sweden)

    Rajesh Krovvidi

    2013-01-01

    Full Text Available Neurological melioidosis is a very rare and very few cases have been reported from India. Presentation is an extremely varied and as this disease is associated with high mortality, high index of suspicion is needed to diagnose and treat. In this context, we report a patient presenting as Guillain Barre syndrome evaluated as melioidosis.

  17. Current role of melatonin in pediatric neurology: clinical recommendations.

    Science.gov (United States)

    Bruni, Oliviero; Alonso-Alconada, Daniel; Besag, Frank; Biran, Valerie; Braam, Wiebe; Cortese, Samuele; Moavero, Romina; Parisi, Pasquale; Smits, Marcel; Van der Heijden, Kristiaan; Curatolo, Paolo

    2015-03-01

    Melatonin, an indoleamine secreted by the pineal gland, plays a key role in regulating circadian rhythm. It has chronobiotic, antioxidant, anti-inflammatory and free radical scavenging properties. A conference in Rome in 2014 aimed to establish consensus on the roles of melatonin in children and on treatment guidelines. The best evidence for efficacy is in sleep onset insomnia and delayed sleep phase syndrome. It is most effective when administered 3-5 h before physiological dim light melatonin onset. There is no evidence that extended-release melatonin confers advantage over immediate release. Many children with developmental disorders, such as autism spectrum disorder, attention-deficit/hyperactivity disorder and intellectual disability have sleep disturbance and can benefit from melatonin treatment. Melatonin decreases sleep onset latency and increases total sleep time but does not decrease night awakenings. Decreased CYP 1A2 activity, genetically determined or from concomitant medication, can slow metabolism, with loss of variation in melatonin level and loss of effect. Decreasing the dose can remedy this. Animal work and limited human data suggest that melatonin does not exacerbate seizures and might decrease them. Melatonin has been used successfully in treating headache. Animal work has confirmed a neuroprotective effect of melatonin, suggesting a role in minimising neuronal damage from birth asphyxia; results from human studies are awaited. Melatonin can also be of value in the performance of sleep EEGs and as sedation for brainstem auditory evoked potential assessments. No serious adverse effects of melatonin in humans have been identified. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  18. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS and related neurological problems

    Directory of Open Access Journals (Sweden)

    Randi J Hagerman

    2008-06-01

    Full Text Available Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hagerman1, Paul J Hagerman141M.I.N.D. Institute, 2Department of Pediatrics, 4Department of Psychiatry & Behavioral Sciences, 5Department of Urology, 6Department of Neurology, 10Department of Pathology and Laboratory Medicine, 14Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, CA, USA; 3Department of Neurology, University of Colorado, Denver, CO, USA; 7Department of Pediatrics, Neurology, and Biochemistry, 8Department of Neurological Sciences, 9Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA; 11Physical Edge, Inc., Davis, CA, USA; 12Seaside Therapeutics, Cambridge, MA, USA; 13Department of Physical Medicine and Rehabilitation, University of Colorado Health Sciences Center, Denver, CO, USAAbstract: Fragile X-associated tremor/ataxia syndrome (FXTAS is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats of the fragile X (FMR1 gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently

  19. Neurological presentations of a secondary antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Yesaulenko I.E.

    2017-03-01

    Full Text Available The aim of the study is to turn the attention of specialists to antiphospholipid syndrome (APS, which is of interest to physicians of many specialties. The observation of the patient W., 32 years, with secondary APS was analyzed. Poor prognostic factors in CFA are the high frequency of thrombotic complications and thrombocytopenia, and laboratory markers — the presence of lupus anticoagulant. All patients with APS should be under medical supervision, whose main task is to assess the risk of recurrence of venous or arterial thrombosis and its prevention.

  20. What is the Future of Pediatric Neurology in Canada? Resident and Faculty Perceptions of Training and Workforce Issues.

    Science.gov (United States)

    Doja, Asif; Clarkin, Chantalle; Whiting, Sharon; Moharir, Mahendranath

    2016-07-01

    Pediatric neurology trainee numbers have grown considerably in Canada; recent research, however, has shown that the number of pediatric neurology graduates is outpacing the need for future pediatric neurologists. The purpose of this study was to seek the opinion of pediatric neurology program directors and trainees regarding possible solutions for this issue. Two focus groups were convened during the Canadian Neurological Sciences Federation annual congress in June 2012; one consisted of current and former program directors, and the other of current pediatric neurology trainees. Groups were asked for their perceptions regarding child neurology manpower issues in Canada as well as possible solutions. Focus groups were audio-recorded and transcribed for analysis. Theme-based qualitative analysis was used to analyze the transcripts. Major themes emerging from both focus groups included the emphasis on community pediatric neurology as a viable option for trainees, including the need for community mentors; recognizing the needs of underserviced areas; and establishing academic positions for community preceptors. The need for career mentoring and support structures during residency training was another major theme which arose. Program directors and trainees also gave examples of ways to reduce the current oversupply of trainees in Canada, including limiting the number of trainees entering programs, as well as creating a long-term vision of child neurology in Canada. A nationwide dialogue to discuss the supply and demand of manpower in academic and community pediatric neurology is essential. Career guidance options for pediatric neurology trainees across the country merit further strengthening.

  1. Disruptive technology disorder: A past, present, and future neurologic syndrome.

    Science.gov (United States)

    Weaver, Donald F

    2017-07-25

    Based upon an analysis of 6 major historical technological advances over the last 150 years, a new syndrome, disruptive technology disorder (DTD), is introduced. DTD describes the human health ailments that accompany the implementation of disruptive technologies. Elevator sickness, railway spine, and bicycle face are representative examples. Though the underlying causative disruptive technologies may differ, many neurologic symptoms (headache, dizziness, weakness) are common to multiple DTDs. Born of technology-driven societal change, DTDs manifest as a complex interplay between biological and psychological symptoms. © 2017 American Academy of Neurology.

  2. Neurologic complications of cerebral angiography in childhood moyamoya syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Robertson, R.L.; Chavali, R.V.; Robson, C.D.; Barnes, P.D.; Burrows, P.E. [Department of Radiology, Children`s Hospital Medical Center, Boston, MA (United States); Eldredge, E.A. [Department of Anesthesia, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States); Scott, R.M. [Department of Neurosurgery, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States)

    1998-11-01

    Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher`s exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.) With 8 tabs., 37 refs.

  3. Neurologic complications of cerebral angiography in childhood moyamoya syndrome

    International Nuclear Information System (INIS)

    Robertson, R.L.; Chavali, R.V.; Robson, C.D.; Barnes, P.D.; Burrows, P.E.; Eldredge, E.A.; Scott, R.M.

    1998-01-01

    Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.)

  4. Diffusion-weighted imaging in diagnosing neurological disorders in children: a pediatric neurologist's perspective

    International Nuclear Information System (INIS)

    Benedict, Susan L.

    2007-01-01

    Diffusion-weighted imaging (DWI) has provided a way to measure early changes in cellular function in the central nervous system. It has permitted rapid, less invasive diagnosis and treatment of neurological disorders that were once thought to be untreatable. DWI has also created new avenues of research and alternative ways to measure study outcomes. Seven clinical cases illustrate how DWI enhances the ability of the pediatric neurologist to rapidly diagnose acute neurological disorders in infants and children. (orig.)

  5. Diagnostic Approach to a Patient With Paraneoplastic Neurological Syndrome.

    Science.gov (United States)

    Mahta, Ali; Vijayvergia, Namrata; Bhavsar, Tapan M; Ward, Lawrence D

    2012-10-01

    Herein, we discussed a case of an otherwise healthy man who presented with progressive gait imbalance and ataxia, found to have small cell lung cancer. Based upon our clinical findings and laboratory data, a diagnosis of paraneoplastic cerebellar degeneration was made. Paraneoplastic neurological syndromes (PNS) are relatively rare but diverse and always should be considered in differentials. A diagnostic algorithm along with appropriate work up is discussed here.

  6. Report of seven neurological patients with misidentification syndrome

    Directory of Open Access Journals (Sweden)

    Edson José Amâncio

    2004-12-01

    Full Text Available Objective: To present clinical, neuropsychological and laboratorydata on 7 patients with misidentification syndrome and to discussits possible etiologies and pathophysiology. Methods: Sevenpatients presenting misidentification syndrome, 6 female and 1male, aged 64-78 years were studied. All had a brain diseasediagnosed by clinical and laboratory data. All patients weresubmitted to general clinical examination, neurological andneuropsychological examinations, and brain magnetic resonanceimaging. Results: All patients were capable to recognizephotographs of relatives or famous persons. They presented goodvisual acuity that allowed them reading texts with small print andpreserved visual field. The etiologies of brain lesions were ischemicstroke, left temporal lobe tumor, idiopathic hydrocephalus in elderlypatients, Parkinson’s disease and probable Alzheimer’s disease.None presented enough cognitive disorders to characterize seniledementia. Conclusion: Misidentification syndromes are notnecessarily related to one single psychogenic etiology; on thecontrary, many organic causes may be related with the clinicalpicture. Most patients improved when submitted to treatmentwith typical or atypical neuroleptic drugs.

  7. Neuroimaging experience in pediatric Horner syndrome

    International Nuclear Information System (INIS)

    Kadom, Nadja; Rosman, N.P.; Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M.; Zein, Wadih M.

    2015-01-01

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  8. Neuroimaging experience in pediatric Horner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kadom, Nadja [Boston University School of Medicine, Department of Radiology, Boston University Medical Center, Boston, MA (United States); Rosman, N.P. [Boston Medical Center, Division of Pediatric Neurology, Departments of Pediatrics and Neurology, Boston University School of Medicine, Boston, MA (United States); Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M. [Children' s National Medical Center, Department of Radiology and Diagnostic Imaging, Washington, DC (United States); Zein, Wadih M. [National Eye Institute (NEI), Bethesda, MD (United States)

    2015-09-15

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  9. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    Science.gov (United States)

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  10. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation.

    Science.gov (United States)

    Warsi, Qurratul; Kirby, Caroline; Beg, Mirza

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient's TS.

  11. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    Directory of Open Access Journals (Sweden)

    Qurratul Warsi

    2017-03-01

    Full Text Available Dysphagia is a condition in which disruption of the swallowing process interferes with a patient’s ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia. Dysphagia as a result of TS generally affects female, elderly patients and is not reported in children. While the pathophysiology is relatively unknown, experts believe TS is closely linked to damage or abnormalities in the basal ganglia of the brain. We present this interesting pediatric case of dysphagia due to EoE, which had been previously thought to be related to the patient’s TS.

  12. Autoimmune neurological syndromes associated limbic encephalitis and paraneoplastic cerebellar degeneration.

    Science.gov (United States)

    Ayas, Zeynep Özözen; Kotan, Dilcan; Aras, Yeşim Güzey

    2016-10-06

    Autoimmune neurological syndrome is a group of disorders caused by cancer affecting nervous system by different immunological mechanisms. In this study, we aim to study the clinical symptoms, cerebrospinal fluid (CSF) findings, autoantibody tests, computed tomography (CT), magnetic resonance imaging (MRI) signs and treatment outcome of patients with autoimmune syndromes. In this study, 7 patients (4 male, 3 female) diagnosed with autoimmune neurological syndrome were retrospectively examined. Five of patients were diagnosed with limbic encephalitis, two of them were paraneoplastic cerebellar degeneration. Confusion and seizure were the most seen symptoms. Two patients had psychiatric disturbances (28,5%) followed by seizure. Headache was seen in 2 patients (% 28,5), disartria in 1 patient (% 14,2), and gait disorder in 2 patients (28,5%). The duration of symptoms was 46 (3-150) days on average. CSF abnormalities were detected in 2 patients. CT and MRI of the brain was available in all patients. Five patients had involvement of mesiotemporal region, two patients had diffuse cerebellar atrophy. One of patients had anti-GABAR B1 positivity. Tumors were detected in 2 patients while investigation for paraneoplasia screening. Remission is only possible with the detection and treatment of the malignancy. Early diagnosis and treatment are of paramount importance. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  13. Aortic Involvement in Pediatric Marfan syndrome: A Review.

    Science.gov (United States)

    Ekhomu, Omonigho; Naheed, Zahra J

    2015-06-01

    Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a specific case to depict our experienced range of cardiovascular manifestations. The survival for patients with Marfan syndrome may approach the expected survival for non-affected patients, with optimal management. With this potentiality in mind, we explore possible and actual management considerations for pediatric Marfan syndrome, examining both medical and surgical therapy modalities that can make the possibility of improved survival a reality.

  14. Academic productivity after retirement in pediatric neurology and neuropathology.

    Science.gov (United States)

    Sarnat, Harvey B

    2018-05-25

    Many academic neurologists and neuropathologists who retire at the peak of their careers continue to be productive in research and teaching, enhanced by years of experience and mature perspective. The early 20th-century model of institutions depending upon the generosity of such individuals to donate their time and efforts without proper recognition or compensation, despite the service, prestige, and recognition they bring to their institutions, should be reconsidered in the early 21st century in the context of fairness, honesty, dignity, and increased longevity. University pensions do not distinguish retirees who continue to contribute from those who stop working. This essay represents the author's personal reflections and experience, reinforced by similar thoughts and encouragement by numerous distinguished colleagues named at the end of the text. Funding of stipends for active emeritus professors lacks precedent but should be sought. © 2018 American Academy of Neurology.

  15. An update on Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2018-04-09

    Cushing syndrome (CS) in childhood results mostly from the exogenous administration of glucocorticoids; endogenous CS is a rare disease. The latter is the main reason pediatric patients with CS escape diagnosis for too long. Other barriers to optimal care of a pediatric patient with CS include improper following of the proper sequence of testing for diagnosing CS, which stems from lack of understanding of pathophysiology of the hypothalamic-pituitary-adrenal axis; lack of access to proper (i.e., experienced, state-of-the-art) surgical treatment; and unavailability of well-tolerated and effective medications to control hypercortisolemia. This report reviews the state-of-the-art in diagnosing CS and provides an update on the most recent discoveries in its genetics and treatment. Copyright © 2018. Published by Elsevier Masson SAS.

  16. Rett syndrome: a neurological disorder with metabolic components

    Science.gov (United States)

    Kyle, Stephanie M.

    2018-01-01

    Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system. However, the variety of phenotypes identified in Mecp2 mutant mouse models and RTT patients implicate important roles for MeCP2 in peripheral systems. Here, we review the history of RTT, highlighting breakthroughs in the field that have led us to present day. We explore the current evidence supporting metabolic dysfunction as a component of RTT, presenting recent studies that have revealed perturbed lipid metabolism in the brain and peripheral tissues of mouse models and patients. Such findings may have an impact on the quality of life of RTT patients as both dietary and drug intervention can alter lipid metabolism. Ultimately, we conclude that a thorough knowledge of MeCP2's varied functional targets in the brain and body will be required to treat this complex syndrome. PMID:29445033

  17. Improvement of healthcare quality in pediatric neurology by crowd technologies

    Directory of Open Access Journals (Sweden)

    O. V. Guzeva

    2016-01-01

    Full Text Available Crowdsourcing and crowdfunding in public health should be considered as an untraditional process of gathering new ideas and assets. Theirefficiency is associated with that a large number of people may be involved in using their specific knowledge to solve complex problems and projects. According to statistics, the annual incidence rate for epilepsy averages 70 per 100,000 population and the disease starts in childhood innearly half of the cases. So the early differential diagnosis of paroxysmal states in children at the early stage of the disease is a necessary condition for adequate drug therapy.Patients and methods. Only in the period from 2007 to 2009, the Center for Diagnosis and Treatment of Epilepsy and Sleep Disorders in Children and Adolescents, Department of Nervous System Diseases, Saint Petersburg State Pediatric Medical University, examined 259 children aged several weeks to 18 years with paroxysmal disorders of consciousness. Among them, there were 156 (60.23% boys and 103 (39.77% girls.Results and discussion. Based on the results obtained during the children's  comprehensive examinations using video-EEG monitoring, the investigators specified diagnoses in all the examinees and changed treatment in the vast majority of cases. Many nonepileptic paroxysms with external manifestations resemble epileptic seizures; these are rather frequently qualified as erroneous and treated as such. Only the comprehensive examination involving video-EEG monitoring may avoid misdiagnosis in children with different epilepsy types and nonepileptic paroxysms. Video-EEG combines the video monitoring recording of EEG readings and makes it possible to reveal epileptic activity during a seizure, to compare the clinical presentation of the latter with EEG changes, to locate an epileptogenic focus, and to differentiate epileptic seizures fromnonepileptic ones. The effective diagnosis of paroxysmal states in childhood is a complex scientific and social problem

  18. Ethical dimensions of genetics in pediatric neurology: a look into the future.

    Science.gov (United States)

    Avard, Denise M; Knoppers, Bartha M

    2002-03-01

    Health care providers and families with children who participate in genetic research or who need specialized genetic services, including genetic testing, will encounter not only medical but difficult social, ethical, and legal questions surrounding pediatric genetic neurology. Children are often at the center of much of the genetic revolution and their unique needs raise special concerns about the risks and benefits associated with genetic research, particularly the issues of consent, the use of genetic databases, and gene therapy. Moreover, genetic research and testing raise important psychosocial risks. In this article we discuss some of the benefits and consequences of genetic technologies for children in relation to national and international guidelines. In particular, physicians, policy-makers, and families should be knowledgeable about the guidelines and have a good understanding of the psychosocial and ethical issues associated with genetics in pediatric neurology.

  19. Development of Pediatric Neurologic Emergency Life Support Course: A Preliminary Report.

    Science.gov (United States)

    Haque, Anwarul; Arif, Fehmina; Abass, Qalab; Ahmed, Khalid

    2017-11-01

    Acute neurological emergencies (ANEs) in children are common life-threatening illnesses and are associated with high mortality and severe neurological disability in survivors, if not recognized early and treated appropriately. We describe our experience of teaching a short, novel course "Pediatric Neurologic Emergency Life Support" to pediatricians and trainees in a resource-limited country. This course was conducted at 5 academic hospitals from November 2013 to December 2014. It is a hybrid of pediatric advance life support and emergency neurologic life support. This course is designed to increase knowledge and impart practical training on early recognition and timely appropriate treatment in the first hour of children with ANEs. Neuroresuscitation and neuroprotective strategies are key components of this course to prevent and treat secondary injuries. Four cases of ANEs (status epilepticus, nontraumatic coma, raised intracranial pressure, and severe traumatic brain injury) were taught as a case simulation in a stepped-care, protocolized approach based on best clinical practices with emphasis on key points of managements in the first hour. Eleven courses were conducted during the study period. One hundred ninety-six physicians including 19 consultants and 171 residents participated in these courses. The mean (SD) score was 65.15 (13.87%). Seventy percent (132) of participants were passed (passing score > 60%). The overall satisfaction rate was 85%. Pediatric Neurologic Emergency Life Support was the first-time delivered educational tool to improve outcome of children with ANEs with good achievement and high satisfaction rate of participants. Large number courses are required for future validation.

  20. The estimated cost of "no-shows" in an academic pediatric neurology clinic.

    Science.gov (United States)

    Guzek, Lindsay M; Gentry, Shelley D; Golomb, Meredith R

    2015-02-01

    Missed appointments ("no-shows") represent an important source of lost revenue for academic medical centers. The goal of this study was to examine the costs of "no-shows" at an academic pediatric neurology outpatient clinic. This was a retrospective cohort study of patients who missed appointments at an academic pediatric neurology outpatient clinic during 1 academic year. Revenue lost was estimated based on average reimbursement for different insurance types and visit types. The yearly "no-show" rate was 26%. Yearly revenue lost from missed appointments was $257,724.57, and monthly losses ranged from $15,652.33 in October 2013 to $27,042.44 in January 2014. The yearly revenue lost from missed appointments at the academic pediatric neurology clinic represents funds that could have been used to improve patient access and care. Further work is needed to develop strategies to decrease the no-show rate to decrease lost revenue and improve patient care and access. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.

    Science.gov (United States)

    Nolan, Danielle; Carlson, Martha

    2016-06-01

    Genetic heterogeneity in neurologic disorders has been an obstacle to phenotype-based diagnostic testing. The authors hypothesized that information compiled via whole exome sequencing will improve clinical diagnosis and management of pediatric neurology patients. The authors performed a retrospective chart review of patients evaluated in the University of Michigan Pediatric Neurology clinic between 6/2011 and 6/2015. The authors recorded previous diagnostic testing, indications for whole exome sequencing, and whole exome sequencing results. Whole exome sequencing was recommended for 135 patients and obtained in 53 patients. Insurance barriers often precluded whole exome sequencing. The most common indication for whole exome sequencing was neurodevelopmental disorders. Whole exome sequencing improved the presumptive diagnostic rate in the patient cohort from 25% to 48%. Clinical implications included family planning, medication selection, and systemic investigation. Compared to current second tier testing, whole exome sequencing can result in lower long-term charges and more timely diagnosis. Overcoming barriers related to whole exome sequencing insurance authorization could allow for more efficient and fruitful diagnostic neurological evaluations. © The Author(s) 2016.

  2. Increased pediatric functional neurological symptom disorders after the Boston marathon bombings: a case series.

    Science.gov (United States)

    Guerriero, Réjean M; Pier, Danielle B; de Gusmão, Claudio M; Bernson-Leung, Miya E; Maski, Kiran P; Urion, David K; Waugh, Jeff L

    2014-11-01

    Functional neurological symptom disorders are frequently the basis for acute neurological consultation. In children, they are often precipitated by high-frequency everyday stressors. The extent to which a severe traumatic experience may also precipitate functional neurological abnormalities is unknown. For the 2-week period after the Boston Marathon bombings, we prospectively collected data on patients whose presentation suggested a functional neurological symptom disorder. We assessed clinical and demographic variables, duration of symptoms, extent of educational impact, and degree of connection to the Marathon bombing. We contacted all patients at 6 months after presentation to determine the outcome and accuracy of the diagnosis. In a parallel study, we reported a baseline of 2.6 functional neurological presentations per week in our emergency room. In the week after the Marathon bombings, this frequency tripled. Ninety-one percent of presentations were delayed by 1 week, with onset around the first school day after a city-wide lockdown. Seventy-three percent had a history of a prior psychiatric diagnosis. At the 6 months follow-up, no functional neurological symptom disorder diagnoses were overturned and no new organic diagnosis was made. Pediatric functional neurological symptom disorder may be precipitated by both casual and high-intensity stressors. The 3.4-fold increase in incidence after the Boston Marathon bombings and city-wide lockdown demonstrates the marked effect that a community-wide tragedy can have on the mental health of children. Care providers must be aware of functional neurological symptom disorders after stressful community events in vulnerable patient populations, particularly those with prior psychiatric diagnoses. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Neurological symptoms and syndromes in municipal transport drivers

    Directory of Open Access Journals (Sweden)

    Halina Sińczuk-Walczak

    2015-07-01

    Full Text Available Background: The way the municipal transport drivers perform their job contributes to varied burdens linked with the body posture at work, stress, shift work, vibration, noise and exposure to chemical agents. The aim of the study was to assess the condition of the nervous system (NS in municipal transport drivers. Material and Methods: The study covered 42 men, aged 43.4 years (standard deviation (SD: 8.3, employed as bus drivers in the municipal transport enterprise. The duration of employment was 11.8 years on average (SD: 8.6. The condition of the nervous system was assessed on the basis of clinical neurological examinations. Results: Chronic lumbosacral syndrome was found in 54.8% of the subjects. A significant relationship between the incidence of lumbosacral syndrome and the duration of employment (p = 0.032 was observed; significantly higher in drivers employed for 11–15 years (90.9% in comparison to the remaining groups. Nervous system functional disorders were niejedcharacterized by the increased emotional irritability (47.6%, sleep disorders manifested by excessive sleepiness (33.3% or insomnia (28.6% and headaches (3%, mostly tension headaches. Excessive daytime sleepiness was significantly age-dependent (p = 0.038. Conclusions: The evidenced NS disorders indicate the need to undertake preventive measures tailored for the occupational group of bus drivers. Med Pr 2015;66(3:333–341

  4. Turner syndrome: transition from pediatrics to adulthood.

    Science.gov (United States)

    Rubin, Karen R

    2008-09-01

    To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.

  5. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

    Science.gov (United States)

    Vissers, Lisenka E L M; van Nimwegen, Kirsten J M; Schieving, Jolanda H; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Yntema, Helger G; Pfundt, Rolph; van der Wilt, Gert Jan; Krabbenborg, Lotte; Brunner, Han G; van der Burg, Simone; Grutters, Janneke; Veltman, Joris A; Willemsen, Michèl A A P

    2017-09-01

    Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin. In a parallel study, all patients received both the standard diagnostic workup (e.g., cerebral imaging, muscle biopsies or lumbar punctures, and sequential gene-by-gene-based testing) and WES simultaneously. Our unique study design allowed direct comparison of diagnostic yield of both trajectories and provided insight into the economic implications of implementing WES in this diagnostic trajectory. We showed that WES identified significantly more conclusive diagnoses (29.3%) than the standard care pathway (7.3%) without incurring higher costs. Exploratory analysis of WES as a first-tier diagnostic test indicates that WES may even be cost-saving, depending on the extent of other tests being omitted. Our data support such a use of WES in pediatric neurology for disorders of presumed genetic origin.Genet Med advance online publication 23 March 2017.

  6. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  7. Pediatric Nonfracture Acute Compartment Syndrome: A Review of 39 Cases.

    Science.gov (United States)

    Livingston, Kristin; Glotzbecker, Michael; Miller, Patricia E; Hresko, Michael T; Hedequist, Daniel; Shore, Benjamin J

    2016-01-01

    Compartment syndrome in the absence of fracture is rare and poorly described within the pediatric literature. The purpose of this study was to report the varying etiologies, risk factors, and treatment outcomes associated with pediatric nonfracture acute compartment syndrome (NFACS). We conducted a retrospective chart review on 37 children who suffered a NFACS and were treated at a single pediatric trauma center between 1997 and 2013. Demographic, diagnostic, treatment, and outcome characteristics were reviewed. Five causal groups were generated: trauma, exercise related (acute presentation after exercise without trauma), infectious, vascular, and postoperative (in the absence of osteotomy). Univariate and multivariate analyses were performed to identify risk factors of NFACS. P-values 39 cases of NFRCS in 37 children [6 females, 31 males, mean age of 11.7 y (SD+7.2 y)]. The leg was the most commonly involved limb (29 cases, 74%). Diagnosis of NFRCS was made either by compartment pressure monitoring [59%, 23/39 cases, mean pressure 66 mm Hg (SD+28)] or by clinical examination. According to etiology, vascular was most common (11/39, 28%), followed by trauma (10/39, 26%) and postoperative (8/39, 21%), with exertion and infection representing a small proportion (6/39, 15% and 4/39, 10%, respectively). Pain was present in 33 cases (85%), swelling in 28 cases (72%), paresthesias in 13 cases (33%), motor deficit in 12 cases (31%), and poor perfusion in 11 cases (28%). Average time from symptom onset to diagnosis was 48 hours (IQR, 9 to 96 h). At surgery, 21 patients (54%) had evidence of myonecrosis. Children required an average of 3 surgeries for wound closure. The median time to follow-up was 232 days (IQR, 73 to 608 d). A total of 54% made a full recovery, whereas 31% suffered a persistent neurological or functional deficit. NFACS in children is associated with a delay in diagnosis and a high rate of myonecrosis. Timely assessment with high clinical suspicion is

  8. Pediatric imaging in DICER1 syndrome

    International Nuclear Information System (INIS)

    Bueno, Marta Tijerin; Martinez-Rios, Claudia; Ahyad, Rayan A.; Greer, Mary-Louise C.; Puente Gregorio, Alejandro de la; Villani, Anita; Malkin, David; Druker, Harriet; Van Engelen, Kalene; Gallinger, Bailey; Aronoff, Laura; Grant, Ronald

    2017-01-01

    DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing. Sixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the ''cracked windshield'' sign. The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation. (orig.)

  9. Pediatric imaging in DICER1 syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bueno, Marta Tijerin; Martinez-Rios, Claudia; Ahyad, Rayan A.; Greer, Mary-Louise C. [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto, Ontario (Canada); University of Toronto, Department of Medical Imaging, Toronto, Ontario (Canada); Puente Gregorio, Alejandro de la [Hospital Son Espases, Radiotherapy Department, Palma de Mallorca (Spain); Villani, Anita; Malkin, David [University of Toronto, Department of Pediatrics, Toronto, Ontario (Canada); The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); Druker, Harriet [The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Genetic Counselling, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Molecular Genetics, Toronto, Ontario (Canada); Van Engelen, Kalene [The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); Gallinger, Bailey [The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Genetic Counselling, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Molecular Genetics, Toronto, Ontario (Canada); Aronoff, Laura [The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); Grant, Ronald [University of Toronto, Department of Pediatrics, Toronto, Ontario (Canada); The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada)

    2017-09-15

    DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing. Sixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the ''cracked windshield'' sign. The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation. (orig.)

  10. A dedicated scholarly research program in an adult and pediatric neurology residency program.

    Science.gov (United States)

    Robbins, Matthew S; Haut, Sheryl R; Lipton, Richard B; Milstein, Mark J; Ocava, Lenore C; Ballaban-Gil, Karen; Moshé, Solomon L; Mehler, Mark F

    2017-04-04

    To describe and assess the effectiveness of a formal scholarly activity program for a highly integrated adult and pediatric neurology residency program. Starting in 2011, all graduating residents were required to complete at least one form of scholarly activity broadly defined to include peer-reviewed publications or presentations at scientific meetings of formally mentored projects. The scholarly activity program was administered by the associate residency training director and included an expanded journal club, guided mentorship, a required grand rounds platform presentation, and annual awards for the most scholarly and seminal research findings. We compared scholarly output and mentorship for residents graduating within a 5-year period following program initiation (2011-2015) and during the preceding 5-year preprogram baseline period (2005-2009). Participation in scholarship increased from the preprogram baseline (24 of 53 graduating residents, 45.3%) to the postprogram period (47 of 57 graduating residents, 82.1%, p Neurology.

  11. Neurologic Adverse Events Associated with Voriconazole Therapy: Report of Two Pediatric Cases

    Directory of Open Access Journals (Sweden)

    Sevliya Öcal Demir

    2016-01-01

    Full Text Available Although voriconazole, a triazole antifungal, is a safe drug, treatment with this agent is associated with certain adverse events such as hepatic, neurologic, and visual disturbances. The current report presents two cases, one a 9-year-old boy and the other a 17-year-old girl, who experienced neurologic side effects associated with voriconazole therapy. Our aim is to remind readers of the side effects of voriconazole therapy in order to prevent unnecessary investigations especially for psychological and ophthalmologic problems. The first case was a 9-year-old boy with cystic fibrosis and invasive aspergillosis that developed photophobia, altered color sensation, and fearful visual hallucination. The second case was a 17-year-old girl with cystic fibrosis and allergic bronchopulmonary aspergillosis, and she experienced photophobia, fatigue, impaired concentration, and insomnia, when the dose of voriconazole therapy was increased from 12 mg/kg/day to 16 mg/kg/day. The complaints of the two patients disappeared after discontinuation of voriconazole therapy. Our experience in these patients reminded us of the importance of being aware of the neurologic adverse events associated with voriconazole therapy in establishing early diagnosis and initiating prompt treatment. In addition, although serum voriconazole concentration was not measured in the present cases, therapeutic drug monitoring for voriconazole seems to be critically important in preventing neurologic side effects in pediatric patients.

  12. Case report: Guillain-Barre syndrome with pneumococcus - A new association in pediatrics.

    Science.gov (United States)

    Khatib, Hassan El; Naous, Amal; Ghanem, Soha; Dbaibo, Ghassan; Rajab, Mariam

    2018-01-01

    Guillain-Barre Syndrome, an acute flaccid paralysis known to be caused by recent Gastro-intestinal infections mainly campylobacter, and Respiratory infections mainly mycoplasma pneumoniae and influenza. One reported case of severe invasive pneumococcal disease in a 68 year old female, that presented with Austrian's triad of meningitis, pneumonia and endocarditis, and progressed to develop Guillain Barre syndrome, an association never been documented before. We present a case of 13 year old male, presented with hypoactivity and inability to bare his own weight, developed septic shock due to pneumococcus with Acute Respiratory Distress Syndrome, and was found to have neurological findings of Guillain-Barre Syndrome. A new association in pediatric age group, never been reported before.

  13. Progress in pediatrics in 2013: choices in allergology, endocrinology, gastroenterology, hypertension, infectious diseases, neonatology, neurology, nutrition and respiratory tract illnesses.

    Science.gov (United States)

    Caffarelli, Carlo; Santamaria, Francesca; Vottero, Alessandra; Dascola, Carlotta Povesi; Mirra, Virginia; Sperli, Francesco; Bernasconi, Sergio

    2014-07-12

    This review will provide new information related to pathophysiology and management of specific diseases that have been addressed by selected articles published in the Italian Journal of Pediatrics in 2013, focusing on allergology, endocrinology, gastroenterology, hypertension, infectious diseases, neonatology, neurology, nutrition and respiratory tract illnesses in children. Recommendations for interpretation of skin prick test to foods in atopic eczema, management of allergic conjunctivitis, hypertension and breastfeeding in women treated with antiepileptic drugs and healthy breakfast have been reported. Epidemiological studies have given emphasis to high incidence of autoimmune disorders in patients with Turner syndrome, increasing prevalence of celiac disease, frequency of hypertension in adolescents, incidence and risk factor for retinopathy of prematurity. Advances in prevention include elucidation of the role of probiotics in reducing occurrence of allergies and feeding intolerance, and events of foetal life that influence later onset of diseases. Mechanistic studies suggested a role for vitamin D deficiency in asthma and type 1 diabetes and for reactivation of Varicella-Zoster virus in aseptic meningitis. Regarding diagnosis, a new mean for the diagnosis of hyperbilirubinaemia in newborns, a score for recognition of impaired nutritional status and growth and criteria for early Dyke-Davidoff-Masson Syndrome have been suggested. New therapeutic approaches consist of use of etanercept for reducing insulin dose in type 1 diabetes, probiotics in atopic eczema, and melatonin in viral infections.

  14. Intracranial incidental findings on brain MR images in a pediatric neurology practice: a retrospective study.

    Science.gov (United States)

    Gupta, Surya N; Belay, Brook

    2008-01-15

    Previous studies have addressed the prevalence of incidental findings largely in healthy adult and pediatric populations. Our study aims to elucidate the prevalence of incidental findings in a pediatric neurology practice. We reviewed the charts of 1618 patients seen at a pediatric neurology practice at a tertiary care center from September 2003 to December 2005 for clinical data and incidental intracranial findings on brain magnetic resonance imaging reports. Incidental findings were divided into two categories: normal or abnormal variants. Clinical and demographic data were assessed for associations with incidental findings. From 1618 charts reviewed, only 666 patients (41% of all patients) had brain MRIs ordered. One-hundred and seventy-one (171) patients (25.7% of all patients; 95% CI: 22.6, 29.0) had incidental findings. Of these, 113 (17.0%; 95% CI: 14.1, 19.8) were classified as normal-variants and 58 (8.7%; 95% CI: 6.6, 10.9) were classified as abnormal. The nature of incidental findings was not related to age group, sex or clinical diagnosis (p=0.29, p=0.31 and p=0.69 respectively). Two patients (0.3%; 95% CI: approximately 0.0, 0.7) required neurosurgical referral. We report a high prevalence of and a low rate of referrals for incidental findings in comparison to previous studies. The present study may help guide management decisions and discussions with patients and families. Future studies should attempt to address issues of associations between primary or secondary diagnoses and intracranial incidental findings in a controlled, prospective fashion.

  15. Pediatric irritable bowel syndrome patient and parental characteristics differ by care management type

    Science.gov (United States)

    This study evaluates whether certain patient or parental characteristics are associated with gastroenterology (GI) referral versus primary pediatrics care for pediatric irritable bowel syndrome (IBS). A retrospective clinical trial sample of patients meeting pediatric Rome III IBS criteria was assem...

  16. Patient Use of Complementary and Alternative Medicines in an Outpatient Pediatric Neurology Clinic.

    Science.gov (United States)

    Kenney, Daniel; Jenkins, Sarah; Youssef, Paul; Kotagal, Suresh

    2016-05-01

    This article describes the use of complementary and alternative medicines in an outpatient pediatric neurology clinic, and assesses family attitudes toward the efficacy of complementary and alternative medicines versus prescription medications. Complementary and alternative medicine is an important element of the modern health care landscape. There is limited information about whether, and to what extent, families perceive its utility in childhood neurological disorders. Surveys were distributed to 500 consecutive patients at a child neurology clinic in Rochester, Minnesota. Questions pertained to the child's diagnoses, use of complementary and alternative medicines, and the specific complementary and alternative medicine modalities that were used. Opinions were also gathered on the perceived efficacy of complementary and alternative medicines and prescription medications. Data were compared using χ(2) or Fisher exact tests as indicated. A total of 484 surveys were returned, of which 327 were usable. Only 17.4% admitted to use of complementary and alternative medicine to treat neurological problems. However, in follow-up questioning, actually 41.6% of patients recognized that they were using one or more types of complementary and alternative medicines. Disorders associated with a statistically significant increased prevalence of complementary and alternative medicine use were headache (50.8% with headache used complementary and alternative medicine versus 35.7% without headache; P = 0.008, Fisher exact test), chronic fatigue (63.2% vs 38.8%; P = 0.005, Fisher exact test), and sleep disorders (77.1% vs 37.3%; P complementary and alternative medicine. Only 38.5% of these recognize themselves as using complementary and alternative medicine, underlining the need to inquire in-depth about its use. Patients who are less satisfied with their prescription medications are more likely to use complementary and alternative medicine, perhaps reflecting the less tractable

  17. Brown-McLean Syndrome in a Pediatric Patient

    Science.gov (United States)

    Tourkmani, Abdo Karim; Martinez, Jaime D.; Berrones, David; Juárez-Domínguez, Brenda Y.; Beltrán, Francisco; Galor, Anat

    2015-01-01

    The purpose of this manuscript is to report the case of a 12-year-old patient who presented for routine ophthalmic examination after congenital cataract surgery performed at 2 months of age. The patient was diagnosed with bilateral Brown-McLean syndrome by slit lamp examination. No treatment was required because the patient was asymptomatic and had a clear central cornea. This is the first described case of Brown-McLean syndrome in a pediatric patient, representing the importance of clinical examination in the pediatric age group after cataract surgery because of the risk for patients of developing peripheral edema. PMID:26034485

  18. Dosimetric studies in monocorte TC teams in adult and pediatric and its application in children with chronic neurological diseases

    International Nuclear Information System (INIS)

    Casal, M. D.; Jimenez, M.; Urena, A.; Sanchez, G.; Herrador, M.

    2010-01-01

    The aim of this paper is to measure and analyze some of the parameters directly related to the doses administrated both for adult and pediatric patients in clinical practice at the Hospital Virgen del Rocio, in Seville. Among the latter group of patients doses in also estimated in children suffering from chronic neurological diseases. (Author) 14 refs.

  19. CAM use in pediatric neurology: an exploration of concurrent use with conventional medicine.

    Science.gov (United States)

    Galicia-Connolly, Elaine; Adams, Denise; Bateman, Justin; Dagenais, Simon; Clifford, Tammy; Baydala, Lola; King, W James; Vohra, Sunita

    2014-01-01

    Previous studies have found that up to 60% of children with neurologic conditions have tried complementary and alternative medicine (CAM). To assess the use of CAM among patients presenting to neurology clinics at two academic centers in Canada. A survey instrument was developed to inquire about use of CAM products and therapies, including reasons for use, perceived helpfulness, and concurrent use with conventional medicine, and administered to patients or their parents/guardians at the Stollery Children's Hospital in Edmonton and the Children's Hospital of Eastern Ontario (CHEO) in Ottawa. Overall CAM use at the Stollery was 78%, compared to 48% at CHEO. The most common CAM products used were multi-vitamins (84%), vitamin C (37%), homeopathic remedies (24%), and fish oil/omega 3 s (22%). The most common CAM practices used were massage (47%), chiropractic (37%), faith healing (18%), aromatherapy (16%), homeopathy (16%), and relaxation (16%). Many patients used CAM products at the same time as conventional medicine but just over half (57%) discussed this concurrent use with their physician. CAM use is common in pediatric neurology patients and most respondents felt that it was helpful, with few or no harms associated. However, this use is often undisclosed, increasing possibility of interactions with conventional drugs. We urge clinicians to inquire about CAM use during routine history taking at every patient visit. Parents would clearly like more information about CAM from their specialty clinics; such information would be easier to share if more primary data were available about the safety and effectiveness of commonly used therapies.

  20. MUNCHAUSEN SYNDROME BY PROXY IN PEDIATRIC DENTISTRY: MYTH OR REALITY?

    Directory of Open Access Journals (Sweden)

    Veronica PINTILICIUC-ŞERBAN

    2017-06-01

    Full Text Available Background and aims: Munchausen syndrome by proxy is a condition traditionally comprising physical and mental abuse and medical neglect as a form of psychogenic maltreatment of the child, secondary to fabrication of a pediatric illness by the parent or guardian. The aim of our paper is to assess whether such condition occurs in current pediatric dental practice and to evidence certain situations in which the pediatric dentist should suspect this form of child abuse. Problem statement: Munchausen syndrome by proxy in pediatric dentistry may lead to serious chronic disabilities of the abused or neglected child, being one of the causes of treatment failure. Discussion: Prompt detection of such condition should be regarded as one of the duties of the practitioner who should be trained to report the suspected cases to the governmental child protective agencies. This should be regarded as a form of child abuse and neglect, and the responsible caregiver could be held liable when such wrongful actions cause harm or endanger child’s welfare. Conclusion: Munchausen syndrome by proxy should be regarded as a reality in current pediatric dental practice and dental teams should be trained to properly recognize, assess and manage such complex situations.

  1. [Tourette syndrome--in the borderland between neurology and psychiatry].

    Science.gov (United States)

    Beier, Henning; Elvén, Bo

    2014-09-23

    Tourette syndrome is a hereditary tic disorder. The symptoms consist of compulsory movements and vocalizations. Stress has an aggravating effect on tics. Unfortunately tics are easily mistaken for oppositional and defiant behavior. Tourette syndrome is most frequently seen with psychiatric comorbidity. Tics are best treated with low arousal techniques, which may be supplemented with pharmacotherapy.

  2. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

    OpenAIRE

    Cross, J. H.; Arora, R.; Heckemann, R. A.; Gunny, R.; Chong, K.; Carr, L.; Baldeweg, T.; Differ, A. M.; Lench, N.; Varadkar, S.; Sirimanna, T.; Wassmer, E.; Hulton, S. A.; Ognjanovic, M.; Ramesh, V.

    2013-01-01

    Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

  3. “Sixteen and a half”: a rare neurological syndrome

    Directory of Open Access Journals (Sweden)

    Chetan Chaudhari

    2012-07-01

    Full Text Available "Sixteen and a half" syndrome is a recently coined terminology for a novel pontine neuro-ophthalmological condition. It is characterised by "one and a half" syndrome with an additional ipsilateral seventh and eighth cranial nerve palsy (1½+7+8=16½. We hereby present a case with "sixteen and a half" syndrome, characterised by facial asymmetry, conjugate gaze palsy and unilateral deafness with vertigo. As demonstrated by magnetic resonance imaging, the responsible pontine lesion was a brainstem tuberculoma involving the ipsilateral abducens nucleus and the adjacent medial longitudinal fasciculus (MLF, along with facial and vestibulocochlear nerve. The location of the tuberculoma and the clinical presentation is unusual.

  4. Pediatric acute respiratory distress syndrome: Host factors in Down syndrome and the general population

    NARCIS (Netherlands)

    Bruijn, M.

    2013-01-01

    We find that Down syndrome is an important risk factor for developing acute respiratory distress syndrome (ARDS) in children, but the reason why remains to be elucidated. In addition, we find several differences between adult and pediatric ARDS. The association between C-reactive protein (CRP)

  5. Anti-Ma2-antibody-associated encephalitis: An atypical paraneoplastic neurologic syndrome

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    Bogna Targonska

    2018-05-01

    Full Text Available Paraneoplastic syndromes are a heterogeneous group of conditions affecting cancer patients, where the signs and symptoms are not owing to the local effects of the tumour but instead owing to humoral or immunologic effects. We describe an unusual presentation of a paraneoplastic neurologic syndrome presenting with predominant involvement of the hypothalamus and deep grey nuclei secondary to an anterior mediastinal germinoma and associated with anti-Ma2 antibody.

  6. Retrospective study of paraneoplastic neurological syndromes in a Chinese Han population from Shandong, East China.

    Science.gov (United States)

    Miao, Shuai; Liao, Shaohua; Li, Heng; Niu, Bing; Hu, Huaiqiang; Qian, Ying; Guo, Hongwei; Cao, Bingzhen

    2018-02-05

    To analyze the clinical features, diagnostic strategies and therapeutic methods associated with paraneoplastic neurological syndromes. A retrospective study of paraneoplastic neurological syndromes was performed at a single center in Shandong, East China. The medical records and follow-up data of 28 patients were intensively reviewed between February 2011 and December 2014. Twenty-four (85.7%) patients experienced subacute or chronic onset of disease, and the most common symptoms reported were mild myasthenia and paresthesias. Twenty-five (89.3%) patients presented nervous system lesions prior to occult tumors, and the median time frame between paraneoplastic neurological syndromes onset and the diagnosis of a tumor was 15 weeks. Sensorimotor neuropathy, Lambert-Eaton myasthenic syndrome and limbic encephalitis were the three most common neurological syndromes reported. Elevated serum tumor markers were observed in 44.0% of patients, while 40.7% of patients were positive for onconeural antibodies. Tumors were detected in 21 (75.0%) patients after repeated whole-body screening, and lung carcinomas were the most common primary tumor detected. Seventeen patients received anti-tumor or immunological therapy, and clinical symptoms were relieved in 13 (76.5%) of these patients. In the majority of paraneoplastic neurological syndromes patients, the onset of disease is subacute or chronic with mild clinical symptoms. Nervous system lesions usually occur prior to occult tumors with complicated and various clinical manifestations. Neither tumor markers nor onconeural antibodies exhibit a high rate of occurrence, while repeated whole-body screening is helpful in identifying occult tumors. Early diagnosis and treatment are crucial to these patients.

  7. Unusual neurological syndrome induced by atmospheric pressure change.

    Science.gov (United States)

    Ptak, Judy A; Yazinski, Nancy A; Block, Clay A; Buckey, Jay C

    2013-05-01

    We describe a case of a 46-yr-old female who developed hypertension, tachycardia, dysarthria, and leg weakness provoked by pressure changes associated with flying. Typically during the landing phase of flight, she would feel dizzy and note that she had difficulty with speech and leg weakness. After the flight the leg weakness persisted for several days. The symptoms were mitigated when she took a combined alpha-beta blocker (labetalol) prior to the flight. To determine if these symptoms were related to atmospheric pressure change, she was referred for testing in a hyperbaric chamber. She was exposed to elevated atmospheric pressure (maximum 1.2 ATA) while her heart rate and blood pressure were monitored. Within 1 min she developed tachycardia and hypertension. She also quickly developed slurred speech, left arm and leg weakness, and sensory changes in her left leg. She was returned to sea level pressure and her symptoms gradually improved. A full neurological workup has revealed no explanation for these findings. She has no air collections, cysts, or other anatomic findings that could be sensitive to atmospheric pressure change. The pattern is most consistent with a vascular event stimulated by altitude exposure. This case suggests that atmospheric pressure change can produce neurological symptoms, although the mechanism is unknown.

  8. INFORMATIVE VALUE OF FRACTAL PORTRAIT OF PATIENTS WITH NEUROLOGICAL SYNDROMES OF OSTEOCHONDROSIS OF THE CERVICAL SPINE

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    D. V. Vakulenko

    2013-05-01

    Full Text Available Patients with neurological syndromes of degenerative disc disease of the cervical spine are characterized by decrease of the fractal dimension of electrocardiosignals compared to healthy. This indicates about a low level of energy, immune status, biorhythms harmonization of different organs and systems, psycho-emotional and physiological activity of the body of patients

  9. Paraneoplastic neurological syndromes with anti-hu antibodies : Pathogenesis and treatment

    NARCIS (Netherlands)

    A.H.C. de Jongste (Arjen)

    2015-01-01

    markdownabstract__Abstract__ Paraneoplastic neurological syndromes (PNS) are remote effects of cancer that are neither caused by invasion of the tumor or its metastasis, nor by infection, ischemia, metabolic and nutritional deficits, surgery or other forms of tumor treatment.1 PNS cause severe

  10. Shrinking lung syndrome complicating pediatric systemic lupus erythematosus

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    Burns, Natalie S. [University of Washington Medical Center, Department of Radiology, Seattle, WA (United States); Stevens, Anne M. [Seattle Children' s Hospital, Division of Rheumatology, Department of Pediatrics, Seattle, WA (United States); Iyer, Ramesh S. [University of Washington School of Medicine, Seattle Children' s Hospital, Department of Radiology, Seattle, WA (United States)

    2014-10-15

    Systemic lupus erythematosis (SLE) can affect the lungs and pleura, usually manifesting with pleural effusions or diffuse parenchymal disease. A rare manifestation of SLE is shrinking lung syndrome, a severe restrictive respiratory disorder. While pleuropulmonary complications of pediatric SLE are common, shrinking lung syndrome is exceedingly rare in children. We present a case of a 13-year-old girl previously diagnosed with lupus, who developed severe dyspnea on exertion and restrictive pulmonary physiology. Her chest radiographs on presentation demonstrated low lung volumes, and CT showed neither pleural nor parenchymal disease. Fluoroscopy demonstrated poor diaphragmatic excursion. While shrinking lung syndrome is described and studied in adults, there is only sparse reference to shrinking lung syndrome in children. (orig.)

  11. Shrinking lung syndrome complicating pediatric systemic lupus erythematosus

    International Nuclear Information System (INIS)

    Burns, Natalie S.; Stevens, Anne M.; Iyer, Ramesh S.

    2014-01-01

    Systemic lupus erythematosis (SLE) can affect the lungs and pleura, usually manifesting with pleural effusions or diffuse parenchymal disease. A rare manifestation of SLE is shrinking lung syndrome, a severe restrictive respiratory disorder. While pleuropulmonary complications of pediatric SLE are common, shrinking lung syndrome is exceedingly rare in children. We present a case of a 13-year-old girl previously diagnosed with lupus, who developed severe dyspnea on exertion and restrictive pulmonary physiology. Her chest radiographs on presentation demonstrated low lung volumes, and CT showed neither pleural nor parenchymal disease. Fluoroscopy demonstrated poor diaphragmatic excursion. While shrinking lung syndrome is described and studied in adults, there is only sparse reference to shrinking lung syndrome in children. (orig.)

  12. Vitamin D status in pediatric irritable bowel syndrome.

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    Benjamin Udoka Nwosu

    Full Text Available Irritable bowel syndrome (IBS is associated with significant morbidity in children and adolescents, and the therapeutic efficacy of available treatment options is limited. The role of vitamin D supplementation in pediatric IBS is unclear as the vitamin D status of pediatric patients with IBS is unknown. Equally, the relationship of vitamin D status with psychosomatic symptoms in children and adolescents is unclear.To characterize the vitamin D status of pediatric patients with IBS using a case-control study design.Serum 25-hydroxyvitamin D [25(OHD] concentration will be similar between patients with IBS and controls.A retrospective case-controlled study of 116 controls (age 14.6 ± 4.3 y, female (n = 67; 58% and 55 subjects with IBS (age 16.5 ± 3.1y, female (n = 44; 80%. Overweight was defined as BMI of ≥85th but 90% of IBS subjects had vitamin D deficiency at a cut-off point of 50% of the subjects with IBS had vitamin D deficiency. This is a much higher prevalence of vitamin D deficiency compared to IBD and other malabsorption syndromes. Monitoring for vitamin D deficiency should be part of the routine care for patients with IBS. Randomized control trials are warranted to determine the role of adjunctive vitamin D therapy in pediatric IBS.

  13. A Study of Hypoalbuminemia and Pleural Effusionin Pediatric Nephrotic Syndrome

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    Tovan Perinandika

    2017-06-01

    Full Text Available Background: Nephrotic syndrome (NS is a kidney disease that is most often found in children. Hypoalbuminemia in NS can cause a decrease in oncotic pressure causing extravasation of fluid into the interstitial space. In conditions of severe hypoalbuminemia, fluid extravasation may cause occurrence of pleural effusion. The objectives of this study was to analyze the correlation between hypoalbuminemia and pleural effusion in children with NS. Methods: An analytical study was conducted on 69 medical records of pediatric nephrotic syndrome from 1 January 2008–31 December 2013 in dr. Hasan Sadikin General Hospital. Inclusion criteria were pediatric patients between 1-14 years old with NS. Exclusion criteria were patients who already had albumin transfusion, malnutrition, patients with chronic disease, and incomplete medical record information. Contingency coefficient test was carried out to discover the correlation between variables. Results: Out of 89 samples, 69 samples were included. Characteristics of the included patients are male (n=48, female (n=21, age 1–5 (n=24, 6–10 (n=22, 11–14 (n=23, mild hypoalbuminemia (n=3, moderate hypoalbuminemia (n=27, severe hypoalbuminemia (n=39, patients with pleural effusion (n=23, and non-pleural effusion (n=46. There was a significant correlation between  hypoalbuminemia and pleural effusion with p=0.000 (p<0.05 and moderate correlation (r=0.437. Conclusions: Hypoalbuminemia has correlation with pleural effusion in pediatric nephrotic syndrome. Keywords: Hypoalbuminemia, pediatric nephrotic syndrome, pleural effusion DOI: 10.15850/amj.v4n2.1075

  14. Pediatric acute respiratory distress syndrome: definition, incidence, and epidemiology: proceedings from the Pediatric Acute Lung Injury Consensus Conference.

    Science.gov (United States)

    Khemani, Robinder G; Smith, Lincoln S; Zimmerman, Jerry J; Erickson, Simon

    2015-06-01

    Although there are similarities in the pathophysiology of acute respiratory distress syndrome in adults and children, pediatric-specific practice patterns, comorbidities, and differences in outcome necessitate a pediatric-specific definition. We sought to create such a definition. A subgroup of pediatric acute respiratory distress syndrome investigators who drafted a pediatric-specific definition of acute respiratory distress syndrome based on consensus opinion and supported by detailed literature review tested elements of the definition with patient data from previously published investigations. International PICUs. Children enrolled in published investigations of pediatric acute respiratory distress syndrome. None. Several aspects of the proposed pediatric acute respiratory distress syndrome definition align with the Berlin Definition of acute respiratory distress syndrome in adults: timing of acute respiratory distress syndrome after a known risk factor, the potential for acute respiratory distress syndrome to coexist with left ventricular dysfunction, and the importance of identifying a group of patients at risk to develop acute respiratory distress syndrome. There are insufficient data to support any specific age for "adult" acute respiratory distress syndrome compared with "pediatric" acute respiratory distress syndrome. However, children with perinatal-related respiratory failure should be excluded from the definition of pediatric acute respiratory distress syndrome. Larger departures from the Berlin Definition surround 1) simplification of chest imaging criteria to eliminate bilateral infiltrates; 2) use of pulse oximetry-based criteria when PaO2 is unavailable; 3) inclusion of oxygenation index and oxygen saturation index instead of PaO2/FIO2 ratio with a minimum positive end-expiratory pressure level for invasively ventilated patients; 4) and specific inclusion of children with preexisting chronic lung disease or cyanotic congenital heart disease. This

  15. Pediatric Tourette Syndrome: A Tic Disorder with a Tricky Presentation

    OpenAIRE

    Qurratul Warsi; Caroline Kirby; Mirza Beg

    2017-01-01

    Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include orophar...

  16. HEADROOM BEYOND THE QUALITY- ADJUSTED LIFE-YEAR: THE CASE OF COMPLEX PEDIATRIC NEUROLOGY.

    Science.gov (United States)

    van Nimwegen, Kirsten J M; Lilford, Richard J; van der Wilt, Gert J; Grutters, Janneke P C

    2017-01-01

    The headroom method was introduced for the very early evaluation of the potential value of new technologies. It allows for establishing a ceiling price for technologies to still be cost-effective by combining the maximum effect a technology might yield, the maximum willingness-to-pay (WTP) for this effect, and potential downstream expenses and savings. Although the headroom method is QALY-based, not all innovations are expected to result in QALY gain. This study explores the feasibility and usefulness of the headroom method in the evaluation of technologies that are unlikely to result in QALY gain. This will be illustrated with the diagnostic trajectory of complex pediatric neurology (CPN). Our headroom analysis showed a large room for improvement in the current diagnostic trajectory of CPN in terms of diagnostic yield. Combining this with a maximum WTP value for an additional diagnosis and the potential downstream expenses and savings, resulted in a total headroom of €15,028. This indicates that a new technology in this particular diagnostic trajectory, might be cost-effective as long as its costs do not exceed €15,028. The headroom method seems a useful tool in the very early evaluation of medical technologies, also in cases when immediate QALY gain is unlikely. It allows for allocating healthcare resources to those technologies that are most promising. It should be kept in mind, however, that the headroom assumes an optimistic scenario, and for that reason cannot guarantee future cost-effectiveness. It might be most useful for ruling out those technologies that are unlikely to be cost-effective.

  17. Spinal cheiro-oral syndrome: a common neurological entity in an unusual site.

    Science.gov (United States)

    Lin, Hung-Sheng; Yin, Hsin-Ling; Chui, Chi; Lui, Chun-Chung; Chen, Wei-Hsi

    2011-01-01

    Cheiro-oral syndrome (COS) is an established neurological entity characterized by a sensory impairment confined to the mouth angle and ipsilateral finger(s)/ hand. The current understanding of localization is a concomitant involvement of the spinothalamic and trigeminothalamic tract between the cortex and pons. The cervical spinal cord has not been mentioned in this situation yet, and this unusual location may heretofore increase the risk of misdiagnosis. Six patients who presented with unilateral COS due to cervical cord disorder are reported. All patients were women and their age ranged between 42 and 70 years. Their neurological deficits included unilateral paraesthesiae restricted to cheirooral distribution, positive radicular sign, and mild change of tendon reflex. Cervical spinal stenosis at middle/lower cervical spine with variable magnitude of cord compression and intrinsic cord damage was found. A diagnostic dilemma obviously arises from the lack of tangible neurological signs or typical pattern of myelopathy, in addition to the previous concept of cerebral involvement. A benign course ensued in all reported patients. Cheiro-oral syndrome can be an early neurological sign for cervical cord disorder; it further suggests that it is a strong neurological but weak localizing sign. A reciprocal influence of multiple factors is considered to generate COS at the cervical cord. Therefore, an absence of brain pathology should lead to a thorough examination of the cervical cord in case of COS.

  18. Rare Association of Anti-Hu Antibody Positive Paraneoplastic Neurological Syndrome and Transitional Cell Bladder Carcinoma

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    S. Lukacs

    2012-01-01

    Full Text Available Introduction. Paraneoplastic encephalomyelitis (PEM and subacute sensory neuronopathy (SSN are remote effects of cancer, usually associated with small-cell lung carcinoma and positive anti-Hu antibody. We describe the rare association of bladder transitional cell carcinoma (TCC with anti-Hu antibody positivity resulting in this paraneoplastic neurological syndrome. Patient. A 76-year-old female presented with bilateral muscle weakness and paraesthesia of the upper and lower limbs in a length-dependent “glove and stocking” distribution. Central nervous system symptoms included cognitive problems, personality change, and truncal ataxia. Case notes and the literature were reviewed. Result. Autoantibody screening was positive for anti-Hu antibody (recently renamed antineuronal nuclear antibody 1, ANNA-1. The diagnosis of PEM and SSN was supported by MRI and lumbar puncture results. A superficial bladder TCC was demonstrated on CT and subsequently confirmed on histology. No other primary neoplasm was found on full-body imaging. The neurological symptoms were considered to be an antibody-mediated paraneoplastic neurological syndrome and improved after resection of the tumour. Discussion. The association of anti-Hu positive paraneoplastic neurological syndrome and TCC has not been described in the literature previously. We emphasize the need for detailed clinical examination and the importance of a multidisciplinary thought process and encourage further awareness of this rare association.

  19. Parry-Romberg syndrome in a pediatric patient. A case report.

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    Edgar Reyes

    2015-07-01

    Full Text Available The Parry-Romberg syndrome is a rare degenerative disease of unknown etiology that has dental implications. It is characterized by a progressive hemifacial atrophy that appears in the early stages of life. It causes aesthetic, functional and psychological alterations, and has social implications for the patient. There is no definitive treatment for the Parry-Romberg syndrome. Systemic and immune alterations produce oral and maxillofacial manifestations, which need to be managed by specialized dental professionals. The aim of this paper is to do a literature review of the Parry-Romberg syndrome and describe the oral and clinical characteristics of this condition in a 12-year-old male pediatric patient, who had a history of neurological disorders and facial asymmetry on the left side. Dentists require an adequate knowledge of the clinical and dental characteristics of this syndrome. With early diagnosis and appropriate surgical and orthodontic treatment at an early age, they can improve the quality of life of patients and minimize invasive long-term effects.

  20. Opportunistic Neurologic Infections in Patients with Acquired Immunodeficiency Syndrome (AIDS).

    Science.gov (United States)

    Albarillo, Fritzie; O'Keefe, Paul

    2016-01-01

    Infections of the central nervous system (CNS) in individuals with human immunodeficiency virus (HIV) remain a substantial cause of morbidity and mortality despite the introduction of highly active antiretroviral therapy (HAART) especially in the resource-limited regions of the world. Diagnosis of these infections may be challenging because findings on cerebrospinal fluid (CSF) analysis and brain imaging are nonspecific. While brain biopsy provides a definitive diagnosis, it is an invasive procedure associated with a relatively low mortality rate, thus less invasive modalities have been studied in recent years. Diagnosis, therefore, can be established based on a combination of a compatible clinical syndrome, radiologic and CSF findings, and understanding of the role of HIV in these infections. The most common CNS opportunistic infections are AIDS-defining conditions; thus, treatment of these infections in combination with HAART has greatly improved survival.

  1. Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS).

    Science.gov (United States)

    Mamoudjy, Nafissa; Maurey, Hélène; Marie, Isabelle; Koné-Paut, Isabelle; Deiva, Kumaran

    2017-02-14

    To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed. Twenty-four patients (15 adults and 9 children at diagnosis) with CAPS were included. The median age at disease onset was 0 year (birth) [range 0-14], the median age at diagnosis was 20 years [range 0-53] and the mean duration of follow-up was 10.4 ± 2 years. Neurological involvement at diagnosis, mostly headaches and hearing loss, was noted in 17 patients (71%). Two patients of the same family had abnormal brain MRI. A439V mutation is frequently associated with a non-neurological phenotype while R260W mutation tends to be associated with neurological involvement. Eleven adult patients (61%) and 3 children (50%) underwent school difficulties. Neurological involvement is frequent in patients with CAPS and the majority of patients presented difficulties in school performances with consequences in the professional outcome during adulthood. Further studies in larger cohorts of children with CAPS focusing in intellectual efficiency and school performances are necessary.

  2. What is known about pediatric antiphospholipid syndrome?

    Science.gov (United States)

    Meroni, Pier Luigi; Argolini, Lorenza Maria; Pontikaki, Irene

    2016-10-01

    Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by vascular thrombosis and/or pregnancy morbidity associated with the persistent presence of antiphospholipid antibodies (aPL) including lupus anticoagulant (LA), anticardiolipin antibodies (aCL), and anti-β2 glycoprotein I antibodies (aβ2GPI). APS is considered as the most common acquired hypercoagulation state of autoimmune origin in children. Unfortunately, data about incidence, prevalence, thrombosis risk and effective treatment in paediatric APS are limited and unmethodical. Expert commentary: This review summarizes recent clinical, laboratory and therapy characterization of paediatric APS and emphasizes the differences between paediatric and adult populations.

  3. Metabolic syndrome in the pediatric population: a short overview

    Directory of Open Access Journals (Sweden)

    Natasa Marcun Varda

    2009-06-01

    Full Text Available The metabolic syndrome (MS in adults is defined as a concurrence of obesity, disturbed glucose and insulin metabolism, hypertension and dyslipidemia, and is associated with increased morbidity and mortality from cardiovascular diseases and type 2 diabetes. Studies now indicate that many of its components are also present in children and adolescents. Moreover, the clustering of these risk factors has been documented in some children, who are at increased cardiovascular risk in adulthood. The MS is highly prevalent among overweight children and adolescents. Identifying these children is important for early prevention and treatment of different components of the syndrome. The first-line treatment comprises lifestyle modification consisting of diet and exercise. The most effective tool for prevention of the MS is to stop the development of childhood obesity. The first attempt of consensus-based pediatric diagnostic criteria was published in 2007 by the International Diabetes Federation. Nevertheless, national prevalence data, based on uniform pediatric definition, protocols for prevention, early recognition and effective treatment of pediatric MS are still needed. The aim of this article is to provide a short overview of the diagnosis and treatment options of childhood MS, as well as to present the relationships between MS and its individual components.

  4. VPA alleviates neurological deficits and restores gene expression in a mouse model of Rett syndrome.

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    Weixiang Guo

    Full Text Available Rett syndrome (RTT is a devastating neurodevelopmental disorder that occurs once in every 10,000-15,000 live female births. Despite intensive research, no effective cure is yet available. Valproic acid (VPA has been used widely to treat mood disorder, epilepsy, and a growing number of other disorders. In limited clinical studies, VPA has also been used to control seizure in RTT patients with promising albeit somewhat unclear efficacy. In this study we tested the effect of VPA on the neurological symptoms of RTT and discovered that short-term VPA treatment during the symptomatic period could reduce neurological symptoms in RTT mice. We found that VPA restores the expression of a subset of genes in RTT mouse brains, and these genes clustered in neurological disease and developmental disorder networks. Our data suggest that VPA could be used as a drug to alleviate RTT symptoms.

  5. PRACTICAL RECOMMENDATIONS OF DATA PREPROCESSING AND GEOSPATIAL MEASURES FOR OPTIMIZING THE NEUROLOGICAL AND OTHER PEDIATRIC EMERGENCIES MANAGEMENT

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    Ionela MANIU

    2017-08-01

    Full Text Available Time management, optimal and timed determination of emergency severity as well as optimizing the use of available human and material resources are crucial areas of emergency services. A starting point for achieving these optimizations can be considered the analysis and preprocess of real data from the emergency services. The benefits of performing this method consist in exposing more useful structures to data modelling algorithms which consequently will reduce overfitting and improves accuracy. This paper aims to offer practical recommendations for data preprocessing measures including feature selection and discretization of numeric attributes regarding age, duration of the case, season, period, week period (workday, weekend and geospatial location of neurological and other pediatric emergencies. An analytical, retrospective study was conducted on a sample consisting of 933 pediatric cases, from UPU-SMURD Sibiu, 01.01.2014 – 27.02.2017 period.

  6. Body integrity identity disorder: from a psychological to a neurological syndrome.

    Science.gov (United States)

    Sedda, Anna

    2011-12-01

    Body Integrity Identity Disorder (BIID) is a condition in which individuals experience an intense desire for amputation of an healthy limb. Recently, McGeoch and colleagues provided the first direct evidence that this syndrome may be neurological rather than psychological in its origin. However, before including BIID in body ownership disorders, several concerns should be clarified, exploring other components of body representation and not only somatosensory perception.

  7. [Comorbidity in autism spectrum disorders - II. Genetic syndromes and neurological problems].

    Science.gov (United States)

    Noterdaeme, Michele A; Hutzelmeyer-Nickels, Anna

    2010-07-01

    Children with a pervasive developmental disorder show in addition to core symptoms a variety of genetic syndromes as well as neurological problems, which are relevant for the treatment and the course of the disorder. The objective of our study is to analyse the nature and the frequency of these co-morbid somatic disorders in relation to the level of intellectual functioning of the patients. The sample consists of 601 patients with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum between 1997 and 2007. In addition to genetic syndromes, we also recorded a variety of neurological disorders. 373 of the patients (62%) had at least one additional diagnosis and 121 (20%) had at least two additional diagnoses on Axis IV of the multi-axial classification scheme. Genetic syndromes were found in 6% of the patients (N = 37). Movement disorders (N = 214; 35.6%) and epilepsy (N = 98; 16.3%) were the most frequent neurological disorders. Children with mental retardation showed significantly more somatic diagnoses than children without mental retardation. Children with pervasive developmental disorders show a wide variety of co-morbid somatic problems, which are relevant for the treatment and the course of the disorder. Children with autism and mental retardation show more co-morbid conditions and are more impaired in their psychosocial adaptation than children with autism without mental retardation.

  8. Nutrition: A Primary Therapy in Pediatric Acute Respiratory Distress Syndrome

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    Bryan Wilson

    2016-10-01

    Full Text Available Appropriate nutrition is an essential component of intensive care management of children with Acute Respiratory Distress Syndrome (ARDS and is linked to patient outcomes. One out of every two children in the PICU will develop malnutrition or have worsening of baseline malnutrition, and present with specific micronutrient deficiencies. Early and adequate enteral nutrition (EN is associated with improved 60-day survival after pediatric critical illness and yet, despite early EN guidelines, critically ill children receive on average only 55% of goal calories by PICU day 10. Inadequate delivery of EN is due to perceived feeding intolerance, reluctance to enterally feed children with hemodynamic instability, and fluid restriction. Underlying each of these factors is large practice variation between providers and across institutions for initiation, advancement and maintenance of EN. Strategies to improve early initiation, advancement, and to maintain delivery of EN are needed to improve morbidity and mortality from pediatric ARDS. Both over and underfeeding prolongs duration of mechanical ventilation in children and worsens other organ function such that precise calorie goals are needed. The gut is thought to act as a ‘motor’ of organ dysfunction and emerging data regarding the role of intestinal barrier functions and the intestinal microbiome on organ dysfunction and outcomes of critical illness present exciting opportunities to improve patient outcomes. Nutrition should be considered a primary rather than supportive therapy for pediatric ARDS. Precise nutritional therapies, which are titrated and targeted to preservation of intestinal barrier function, prevention of intestinal dysbiosis, preservation of lean body mass, and blunting of the systemic inflammatory response, offer great potential for improving outcomes of pediatric ARDS. In this review we examine the current evidence regarding dose, route, and timing of nutrition, current

  9. Cellulitis as complication of nephrotic syndrome in a pediatric patient

    Science.gov (United States)

    Siregar, R. S.; Daulay, K. R.; Siregar, B.; Ramayani, O. R.; Eyanoer, P. C.

    2018-03-01

    Nephrotic syndrome is a chronic disease that may act as a risk for other major infection in skin, respiratory and urinary tract, while also increasingthe chance for other diseases, like peritonitis, meningitis, and cellulitis. Cellulitis is often caused by Streptococcus β-hemolytic, Staphylococcus aureus, and Escherichia coli. The clinical features of cellulitis marked with redness rash and well-defined borders, pain pressure and swelling. Hypoalbuminemia which occurs due to proteinuria occurred in this patient acts as a risk factor for cellulitis. It has been reported the case of cellulitis as one of the complications of the nephrotic syndrome in the pediatric patient. The treatment has been given to the patient such as antibiotics and supportive therapy and also planned albumin substitution.

  10. A nationwide survey of pediatric acquired demyelinating syndromes in Japan

    Science.gov (United States)

    Yamaguchi, Y.; Kira, R.; Ishizaki, Y.; Sakai, Y.; Sanefuji, M.; Ichiyama, T.; Oka, A.; Kishi, T.; Kimura, S.; Kubota, M.; Takanashi, J.; Takahashi, Y.; Tamai, H.; Natsume, J.; Hamano, S.; Hirabayashi, S.; Maegaki, Y.; Mizuguchi, M.; Minagawa, K.; Yoshikawa, H.; Kira, J.; Kusunoki, S.; Hara, T.

    2016-01-01

    Objective: To investigate the clinical and epidemiologic features of pediatric acquired demyelinating syndromes (ADS) of the CNS in Japan. Methods: We conducted a nationwide survey and collected clinical data on children with ADS aged 15 years or younger, who visited hospitals between 2005 and 2007. Results: Among 977 hospitals enrolled, 723 (74.0%) responded to our inquiries and reported a total of 439 patients as follows: 244 with acute disseminated encephalomyelitis (ADEM), 117 with multiple sclerosis (MS), 14 with neuromyelitis optica (NMO), and 64 with other ADS. We collected and analyzed detailed data from 204 cases, including those with ADEM (66), MS (58), and NMO (10). We observed the following: (1) the estimated annual incidence rate of pediatric ADEM in Japan was 0.40 per 100,000 children (95% confidence interval [CI], 0.34–0.46), with the lowest prevalence in the north; (2) the estimated prevalence rate of MS was 0.69 per 100,000 children (95% CI, 0.58–0.80), with the lowest prevalence in the south; (3) NMO in Japan was rare, with an estimated prevalence of 0.06 per 100,000 children (95% CI, 0.04–0.08); and (4) the sex ratio and mean age at onset varied by ADS type, and (5) male/female ratios correlated with ages at onset in each ADS group. Conclusions: Our results clarify the characteristic clinical features of pediatric ADS in the Japanese population. PMID:27742816

  11. Infectious component of the pediatric acute-onset neuropsychiatric syndrome (PANS in terms of evidence-based medicine principles (review of literature

    Directory of Open Access Journals (Sweden)

    L.O. Bezrukov

    2017-04-01

    Full Text Available The first clinical cases of obsessive-compulsive di­sorder and/or tic disorder in children with acute sudden onset associated with infectious diseases have been named pediatric infection-triggered autoimmune neuropsychiatric disorders (PITANDS. The relationship of such neuropsychiatric manifestations with preceding infectious diseases caused by group A beta-hemolytic Streptococcus was the most important, and it has been called paediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS. Due to the low level of evidence of the research on the relationship of infectious agents with neurological and behavioral symptoms with an acute onset, since 2014 another syndrome is diagnosed in children — pediatric acute-onset neuropsychiatric syndrome (PANS. Currently, the question about infectious etiology, pathogenesis and autoimmune mechanisms of these paediatric neuropsychiatric syndromes are still debatable.

  12. Seat belt syndrome with unstable Chance fracture dislocation of the second lumbar vertebra without neurological deficits.

    Science.gov (United States)

    Onu, David O; Hunn, Andrew W; Bohmer, Robert D

    2014-01-08

    The seat belt syndrome is a recognised complication of seat belt use in vehicles. Unstable Chance fractures of the spine without neurological deficits have been reported infrequently. We describe a young woman with completely disrupted Chance fracture of the second lumbar vertebra in association with left hemidiaphragmatic rupture/hernia, multiple bowel perforations, splenic capsular tear, left humeral shaft and multiple rib fractures. These injuries which resulted from high-speed vehicle collision and led to death of one of the occupants were readily detected by trauma series imaging. The patient was successfully treated by a dedicated multidisciplinary team which adopted a staged surgical approach and prioritisation of care. There were no manifested neurological or other deficits after 1 year of follow-up. To the authors' knowledge, this is the first report of such a case in Australasia. We discuss the challenging surgical management, highlighting the role of radiological imaging in such cases and provide a literature review.

  13. Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome

    International Nuclear Information System (INIS)

    Yoda, Satoru; Kitahara, Fuminori; Akabane, Taro; Terauchi, Akiko.

    1984-01-01

    A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and ''ragged-red fibers.'' On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood. (author)

  14. The value of 18-FDG PET in the diagnosis of tumours associated with paraneoplastic neurological syndromes

    International Nuclear Information System (INIS)

    Lyngkaran, Guru; Chatterton, Barry; Schultz, Chris

    2009-01-01

    Full text: Introduction: Several studies have shown the value of PET in diagnosing occult tumours in patients with paraneoplastic neurological syndromes (PNS). Objective: To audit our experience with PET in the diagnosis of occult tumours in PNS. Methods: A retrospective analysis of all PET and PET/CT scans done for PNS in South Australia from the time the PET/CT was installed (2002) till September 2008. Results of antibody tests, imaging, final diagnosis and outcome were obtained with a mean follow up of 8I9 days. Results: 24 patients (15 women), mean age 62 (range 36-80) were included. The mean interval between symptom onset and PET was 19 days (range 3-29). There were a variety of PNS including subacute sensory neuropathy, cerebellar syndrome. encephalitis, Lambert Eaton myasthenic syndrome, myopathy, transverese myelitis and subacute global neurological deterioration. Abnormal FDG uptake was seen in eight but malignancy was only confirmed in 2 patients. One patient died shortly after PET/CT likely because of lung malignancy. There were 5 false positives. At follow up 14 had no formal diagnosis, 4 had autoimmune illness and in 3 the diagnosis of PNS was revised. The sensitivity was 100%, specificity 76%, positive predictive value 37.5% and negative predictive value 100%. Conclusion: PET was positive in only 12.5% of these patients. When the 3 patients without PNS are excluded the diagnostic yield of PET is 43%. PET is a useful tool in PNS but patient selection is important.

  15. [Isolated severe neurologic disorders in post-partum: posterior reversible encephalopathy syndrome].

    Science.gov (United States)

    Wernet, A; Benayoun, L; Yver, C; Bruno, O; Mantz, J

    2007-01-01

    Just after Caesarean section for twin pregnancy and feto-pelvic dysproportion, a woman presented severe headaches and arterial hypertension, then blurred vision, then generalised seizures. There were no oedematous syndrome, proteinuria was negative, ASAT were 1.5 N and platelet count was 120,000/mm(3). Cerebral CT-scan was normal. Posterior reversible encephalopathy syndrome (PRES) was diagnosed on MRI. A second MRI performed at day 9 showed complete regression of cerebral lesions, while patient was taking anti-hypertensive and antiepileptic drugs. PRES has to be evoked in post-partum central neurological symptoms, even in absence of classical sign of pre-eclampsia, like proteinuria. PRES and eclampsia share probably common physiopathological pathways. There management and prognosis seems identical.

  16. Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review.

    Science.gov (United States)

    Coffino, Samantha W; Fryer, Robert H

    2017-06-01

    Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases. In the pediatric group, reported potential triggers include trauma (1/13), exercise (2/13), water to the face (3/13), hypertension (3/13), and medication or substance use (4/13). One surprising difference is that 11 out of 13 pediatric patients with reversible cerebral vasoconstriction syndrome are male while most cases in adults are female. Many of the pediatric patients with reversible cerebral vasoconstriction syndrome were treated with a calcium channel blocker and the overall outcome of pediatric reversible cerebral vasoconstriction syndrome was good, with most patients experiencing a full recovery.

  17. Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases

    Directory of Open Access Journals (Sweden)

    İmran Aydoğdu

    2015-01-01

    Full Text Available Ramsay Hunt syndrome (RHS is a disorder characterized by herpetic eruptions on the auricle, facial paralysis, and vestibulocochlear dysfunction and is attributed to varicella zoster virus (VZV infection in the geniculate ganglion. Although it is a common cause of acute peripheral facial paralysis, children are not usually affected. The diagnosis is based on history and physical findings. Treatment of RHS uses a combination of high-dose corticosteroids and acyclovir. This paper presents three cases diagnosed as RHS in the pediatric age group in association with the literature review. The aim of this paper is to emphasize the importance of careful examination and early initiation of therapy in suspected cases of RHS.

  18. Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases

    Science.gov (United States)

    Aydoğdu, İmran; Ataç, Enes; Saltürk, Ziya; Atar, Yavuz; Özdemir, Erdi; Arslanoğlu, Ahmet; Berkiten, Güler

    2015-01-01

    Ramsay Hunt syndrome (RHS) is a disorder characterized by herpetic eruptions on the auricle, facial paralysis, and vestibulocochlear dysfunction and is attributed to varicella zoster virus (VZV) infection in the geniculate ganglion. Although it is a common cause of acute peripheral facial paralysis, children are not usually affected. The diagnosis is based on history and physical findings. Treatment of RHS uses a combination of high-dose corticosteroids and acyclovir. This paper presents three cases diagnosed as RHS in the pediatric age group in association with the literature review. The aim of this paper is to emphasize the importance of careful examination and early initiation of therapy in suspected cases of RHS. PMID:26435868

  19. A Pediatric Case of Cowden Syndrome with Graves’ Disease

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    Cláudia Patraquim

    2017-01-01

    Full Text Available Cowden syndrome (CS is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD. At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

  20. Pediatric Acute Respiratory Distress Syndrome: Fluid Management in the PICU.

    Science.gov (United States)

    Ingelse, Sarah A; Wösten-van Asperen, Roelie M; Lemson, Joris; Daams, Joost G; Bem, Reinout A; van Woensel, Job B

    2016-01-01

    The administration of an appropriate volume of intravenous fluids, while avoiding fluid overload, is a major challenge in the pediatric intensive care unit. Despite our efforts, fluid overload is a very common clinical observation in critically ill children, in particular in those with pediatric acute respiratory distress syndrome (PARDS). Patients with ARDS have widespread damage of the alveolar-capillary barrier, potentially making them vulnerable to fluid overload with the development of pulmonary edema leading to prolonged course of disease. Indeed, studies in adults with ARDS have shown that an increased cumulative fluid balance is associated with adverse outcome. However, age-related differences in the development and consequences of fluid overload in ARDS may exist due to disparities in immunologic response and body water distribution. This systematic review summarizes the current literature on fluid imbalance and management in PARDS, with special emphasis on potential differences with adult patients. It discusses the adverse effects associated with fluid overload and the corresponding possible pathophysiological mechanisms of its development. Our intent is to provide an incentive to develop age-specific fluid management protocols to improve PARDS outcomes.

  1. Pediatric acute respiratory distress syndrome: fluid management in the PICU

    Directory of Open Access Journals (Sweden)

    Sarah A Ingelse

    2016-03-01

    Full Text Available The administration of an appropriate volume of intravenous fluids, while avoiding fluid overload, is a major challenge in the pediatric intensive care unit. Despite our efforts, fluid overload is a very common clinical observation in critically ill children, in particular in those with pediatric acute respiratory distress syndrome (PARDS. Patients with ARDS have widespread damage of the alveolar capillary barrier, potentially making them vulnerable to fluid overload with the development of pulmonary edema leading to prolonged course of disease. Indeed, studies in adults with ARDS have shown that an increased cumulative fluid balance is associated with adverse outcome. However, age-related differences in the development and consequences of fluid overload in ARDS may exist due to disparities in immunologic response and body water distribution. This systematic review summarizes the current literature on fluid imbalance and management in PARDS, with special emphasis on potential differences with adult patients. It discusses the adverse effects associated with fluid overload and the corresponding possible pathophysiological mechanisms of its development. Our intent is to provide an incentive to develop age-specific fluid management protocols to improve PARDS outcomes.

  2. The impact of pediatric nephrotic syndrome on families.

    Science.gov (United States)

    Mitra, Sulagna; Banerjee, Sushmita

    2011-08-01

    The objective of our study was to assess the psychologic and economic effects of pediatric nephrotic syndrome (NS) on caregivers. Caregivers of 50 children with NS were compared with a control group of 50 families of children with minor illnesses attending the same outpatient facility. Beck's Depression Inventory (BDI) IA was used to assess the mental status of the primary caregiver. The socioeconomic status of the family was assessed using the modified Kuppuswamy scale. Expenditure for the illness was calculated during parent interviews. The difference between groups was analyzed using analysis of variance (ANOVA) and Duncan's multiple range test. BDI scores signified moderate to severe depression in 48% of NS caregivers compared with 12% controls. The mean BDI score was significantly higher in NS caregivers, correlating positively with disease severity and negatively with socioeconomic status. Expenditure for disease also was significantly higher in families with NS patients, varying between 30% and 60% of monthly income depending on disease severity compared with 6.9% in controls. In 10% of NS families, it was more than total income, forcing families to break into savings or go into debt. Although pediatric NS most commonly has an excellent long-term outcome, it causes significant mental and economic stress on families. Severe forms should be categorized as a chronic illness and be eligible for disability benefits and subsidized travel and medical care. Establishing support groups and supportive care at local levels would help reduce the burden on families of patients wtih NS.

  3. Revisiting the Molecular Mechanism of Neurological Manifestations in Antiphospholipid Syndrome: Beyond Vascular Damage

    Science.gov (United States)

    Carecchio, M.; Cantello, R.; Comi, C.

    2014-01-01

    Antiphospholipid syndrome (APS) is a multiorgan disease often affecting the central nervous system (CNS). Typically, neurological manifestations of APS include thrombosis of cerebral vessels leading to stroke and requiring prompt initiation of treatment with antiplatelet drugs or anticoagulant therapy. In these cases, alterations of the coagulation system at various levels caused by multiple effects of antiphospholipid antibodies (aPL) have been postulated to explain the vascular damage to the CNS in APS. However, several nonvascular neurological manifestations of APS have progressively emerged over the past years. Nonthrombotic, immune-mediated mechanisms altering physiological basal ganglia function have been recently suggested to play a central role in the pathogenesis of these manifestations that include, among others, movement disorders such as chorea and behavioral and cognitive alterations. Similar clinical manifestations have been described in other autoimmune CNS diseases such as anti-NMDAR and anti-VGCK encephalitis, suggesting that the spectrum of immune-mediated basal ganglia disorders is expanding, possibly sharing some pathophysiological mechanisms. In this review, we will focus on thrombotic and nonthrombotic neurological manifestations of APS with particular attention to immune-mediated actions of aPL on the vascular system and the basal ganglia. PMID:24741580

  4. Neurological manifestations of Ehlers-Danlos syndrome(s): A review

    Science.gov (United States)

    Castori, Marco; C. Voermans, Nicol

    2014-01-01

    The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

  5. Clinical neurofeedback: case studies, proposed mechanism, and implications for pediatric neurology practice.

    Science.gov (United States)

    Legarda, Stella B; McMahon, Doreen; Othmer, Siegfried; Othmer, Sue

    2011-08-01

    Trends in alternative medicine use by American health care consumers are rising substantially. Extensive literature exists reporting on the effectiveness of neurofeedback in the treatment of autism, closed head injury, insomnia, migraine, depression, attention deficit hyperactivity disorder, epilepsy, and posttraumatic stress disorder. We speculated that neurofeedback might serve as a therapeutic modality for patients with medically refractory neurological disorders and have begun referring patients to train with clinical neurofeedback practitioners. The modality is not always covered by insurance. Confident their child's medical and neurological needs would continue to be met, the parents of 3 children with epilepsy spectrum disorder decided to have their child train in the modality. The children's individual progress following neurofeedback are each presented here. A proposed mechanism and practice implications are discussed.

  6. A histopathological outlook on nephrotic syndrome: A pediatric perspective

    Directory of Open Access Journals (Sweden)

    M K Arif

    2016-01-01

    Full Text Available The developing world is observing changing histopathological patterns of idiopathic nephrotic syndrome (INS. However, the true burden of non-minimal change disease (non-MCD presenting as INS remains unestimated owing to a paucity of data on renal biopsies. Data were collected from January 2006 to June 2014 on 75 children up to 16 years of age who underwent renal biopsies for INS. Mean age at biopsy was 11.2 ± 3.7 years. The male to female ratio was 1.5:1. A total of 25 (33.3% children were steroid sensitive, 36 (48% were steroid resistant, 10 (13.3% were steroid dependent and 4 (5.3% came with relapse of nephrotic syndrome (NS. Focal segmental glomerulosclerosis (FSGS was the most common histopathological subtype observed in 35 (46.8% children followed by membranous glomerulonephritis (MGN in 11 (14.7%, membranoproliferative glomerulonephritis (MPGN and mesangioproliferative glomerulonephritis (MSGN in 4 (5.3% each and IgA nephropathy in one (1.3%. MCD was the histological lesion in 19 (25.3% children. The histopathology established FSGS as the main underlying cause of steroid resistant NS. The study highlights the emergence of non-MCD as the common cause of INS in the pediatric population and signifies the importance of renal biopsies in children with INS.

  7. Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes.

    Science.gov (United States)

    Ortega Suero, G; Sola-Valls, N; Escudero, D; Saiz, A; Graus, F

    Analyse the clinical profile, associated tumour types, and response to treatment of paraneoplastic neurological syndromes associated with antibodies against Ma proteins. A retrospective study of patients with antibodies against Ma proteins identified in a neuroimmunology laboratory of reference. Of the 32 patients identified, 20 showed reactivity against Ma2 only (anti-Ma2 antibodies), 11 against Ma1 and Ma2 (anti-Ma antibodies), and 1 with reactivity against Ma1 only (anti-Ma1 antibodies). The most common clinical presentations were limbic encephalopathy, diencephalic dysfunction, or brainstem encephalopathy, frequently appearing as a combination of these features. Three patients had isolated cerebellar dysfunction with anti-Ma antibodies, and 2 exhibited peripheral nervous system syndrome with anti-Ma2 antibodies. Testicular tumours were the most common neoplasms (40%) in the anti-Ma2 cases. In the group associated with anti-Ma1 antibodies, the most common were lung tumours (36%), followed by testicular tumours. All idiopathic cases were reactive to Ma2. The clinical outcome was significantly better in the anti-Ma2 group. The patient with anti-Ma1 presented with limbic encephalitis and brainstem dysfunction associated with lymphoepithelioma of the bladder. Specifically determining the different reactivities of anti-Ma protein antibodies in order to differentiate between Ma1 and Ma2 antibodies is important because anti-Ma2-associated paraneoplastic syndromes have a better outcome. Lastly, this study is the first to confirm that there may be cases that react exclusively to antibodies against Ma1. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Schnitzler Syndrome With Delirium and Vertigo: The Utility of Neurologic Manifestations in Diagnosis.

    Science.gov (United States)

    Tolkachjov, Stanislav N; Wetter, David A

    2017-06-01

    Schnitzler syndrome (SS) is an autoinflammatory dermatosis that often goes undiagnosed for 5-6 years. Patients typically carry a diagnosis of urticaria; however, their cutaneous symptoms fail to respond to typical urticaria therapies and lack symptoms such as pruritus. Additionally, patients with SS may see multiple providers for nonspecific complaints of fever, lymphadenopathy, arthralgias, and bone pain. A correct diagnosis is paramount, as close to 20% of patients may develop a lymphoproliferative disorder and appropriate treatment may ameliorate all symptoms.1 We report 2 cases of SS misdiagnosed as urticaria for years in order to illuminate diagnostic pearls, histopathological findings, and treatment modalities. Additionally, we highlight the importance of neurologic disturbances in this rare but important differential diagnosis of urticaria. J Drugs Dermatol. 2017;16(6):625-627..

  9. Prevalence of fatigue in Guillain-Barre syndrome in neurological rehabilitation setting.

    Science.gov (United States)

    Ranjani, Prajna; Khanna, Meeka; Gupta, Anupam; Nagappa, Madhu; Taly, Arun B; Haldar, Partha

    2014-07-01

    Fatigue contributes significantly to the morbidity and affects the quality of life adversely in Guillain-Barre Syndrome (GBS). To determine the prevalence of fatigue in GBS in neurological rehabilitation setting and to study its clinical correlates. We performed secondary analysis of data of patients with GBS admitted in neurological rehabilitation ward of a tertiary care centre, recorded at both admission and discharge. Assessment of fatigue was done by Fatigue Severity Scale (FSS), disability-status by Hughe's Disability Scale (HDS), functional-status by Barthel Index, anxiety/depression by Hospital Anxiety Depression Scale, sleep disturbances by Pittsburgh Sleep Quality Index and muscle weakness by Medical Research Council sum scores. A total of 90 patients (62 men) with mean age 34 years (95% CI 32.2, 37.7) were included. Median duration of, stay at neurological rehabilitation ward was 30 days, while that of symptoms was 18.5 days. Presence of fatigue at admission (FSS ≥ 4 in 39% patients) was associated with ventilator requirement (P = 0.021) and neuropathic pain (P = 0.03). Presence of fatigue at discharge (FSS ≥ 4 in 12% patients) was associated with disability- HDS (≥3) (P = 0.008), presence of anxiety (P = 0.042) and duration of stay at rehabilitation ward (P = 0.02). Fatigue did not correlate with age, gender, antecedent illness, muscle weakness, depression and sleep disturbances. Fatigue is prevalent in GBS during early recovery phase of illness. Despite motor recovery fatigue may persist. Knowledge about fatigue as burden of disease in these patients will improve patient care.

  10. Prevalence of fatigue in Guillain-Barre syndrome in neurological rehabilitation setting

    Directory of Open Access Journals (Sweden)

    Prajna Ranjani

    2014-01-01

    Full Text Available Background: Fatigue contributes significantly to the morbidity and affects the quality of life adversely in Guillain-Barre Syndrome (GBS. Objective: To determine the prevalence of fatigue in GBS in neurological rehabilitation setting and to study its clinical correlates. Materials and Methods: We performed secondary analysis of data of patients with GBS admitted in neurological rehabilitation ward of a tertiary care centre, recorded at both admission and discharge. Assessment of fatigue was done by Fatigue Severity Scale (FSS, disability-status by Hughe′s Disability Scale (HDS, functional-status by Barthel Index, anxiety/depression by Hospital Anxiety Depression Scale, sleep disturbances by Pittsburgh Sleep Quality Index and muscle weakness by Medical Research Council sum scores. Results: A total of 90 patients (62 men with mean age 34 years (95% CI 32.2, 37.7 were included. Median duration of, stay at neurological rehabilitation ward was 30 days, while that of symptoms was 18.5 days. Presence of fatigue at admission (FSS ≥ 4 in 39% patients was associated with ventilator requirement (P = 0.021 and neuropathic pain (P = 0.03. Presence of fatigue at discharge (FSS ≥ 4 in 12% patients was associated with disability- HDS (≥3 (P = 0.008, presence of anxiety (P = 0.042 and duration of stay at rehabilitation ward (P = 0.02. Fatigue did not correlate with age, gender, antecedent illness, muscle weakness, depression and sleep disturbances. Conclusion: Fatigue is prevalent in GBS during early recovery phase of illness. Despite motor recovery fatigue may persist. Knowledge about fatigue as burden of disease in these patients will improve patient care.

  11. Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome.

    Science.gov (United States)

    Liu, Bin; Kaplan, Summer L; Zhuang, Hongming

    2016-03-01

    Patients with prune belly syndrome usually have tortuous ureters, which can cause difficulty in the interpretation of renal scan used to evaluate possible urine leak after renal transplant. We reported a renal scan finding in a pediatric renal transplant patient with prune belly syndrome. The radioactivity in the dilated ureter, which was lateral to the renal transplant, appears to be urine leak.

  12. Central nervous system immune reconstitution inflammatory syndrome in AIDS: experience of a Mexican neurological centre.

    Science.gov (United States)

    Guevara-Silva, Erik A; Ramírez-Crescencio, María A; Soto-Hernández, José Luís; Cárdenas, Graciela

    2012-09-01

    Highly active antiretroviral therapy (HAART) restores the inflammatory immune response in AIDS patients and it may unmask previous subclinical infections or paradoxically exacerbate symptoms of opportunistic infections. Up to 25% of patients receiving HAART develop immune reconstitution inflammatory syndrome (IRIS). We describe six patients with IRIS central nervous system (CNSIRIS) manifestations emphasizing the relevance of CSF cultures and neuroimaging in early diagnosis and management. Patients with CNSIRIS were identified among hospitalized HIV-infected patients that started HAART from January 2002 through December 2007 at a referral neurological center in Mexico. One-hundred and forty-two HIV-infected patients with neurological signs were hospitalized, 64 of which had received HAART, and six (9.3%) developed CNSIRIS. Five patients were male. Two cases of tuberculosis, two of cryptococcosis, one of brain toxoplasmosis, and one possible PML case were found. IRIS onset occurred within 12 weeks of HAART in five patients. Anti-infective therapy was continued. In one case, HAART was temporarily suspended. In long-term follow-up the clinical condition improved in all patients. CNSIRIS associated to opportunistic infections appeared in 9% of patients receiving HAART. Interestingly, no cases of malignancy or neoplasm IRIS-related were found. Frequent clinical assessment and neuroimaging studies supported diagnosis and treatment. Risk factors were similar to those found in other series. Copyright © 2012 Elsevier B.V. All rights reserved.

  13. [Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

    Science.gov (United States)

    Espinós, C; Pérez-Garrigues, H; Beneyto, M; Vilela, C; Rodrigo, O; Nájera, C

    1999-01-01

    Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by congenital bilateral sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa (RP). The prevalence of Usher syndrome is estimated to be 3-4.4 cases per 100.000 people. Several clinical types have been distinguished by age at onset, rate of progression, and severity of symptoms. Type I (USH1) is characterized by a congenital, severe-to-profound deafness and absent vestibular function. Type II (USH2) shows a congenital and moderate-to-severe hearing loss and normal vestibular response. It is also suggested a third type (USH3), clinically similar to USH2, but with progressive hearing loss. Genetic heterogeneity of USH is quite extensive. Up to now, seven different loci responsible for the defect are known: 14q, 11q, 11p, 10q and 21q for USH1; 1q for USH2 and 3q for USH3. Moreover, there are USH1 and USH2 families that fail to show linkage to these candidate regions demonstrating that should exist other loci causing USH, although their ubications are unknown. To date, only two genes involved in the USH pathology are known, although together they are responsibles of about the 80% of total USH cases: myosin VIIA, an unconventional myosin, involved in the USH1b phenotype and a protein similar to the laminina, responsible for the USH2a phenotype.

  14. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  15. Factors associated with delayed recovery in athletes with concussion treated at a pediatric neurology concussion clinic.

    Science.gov (United States)

    Bock, Suzanne; Grim, Rod; Barron, Todd F; Wagenheim, Andrew; Hu, Yaowen Eliot; Hendell, Matthew; Deitch, John; Deibert, Ellen

    2015-11-01

    With the increase in knowledge and management of sport-related concussion over the last 15 years, there has been a shift from a grading scale approach to an individualized management approach. As a result, there is an increased need to better understand the factors involved in delayed recovery of concussion. The purpose of this retrospective study was to examine factors that may be associated with recovery from sport-related concussion in student athletes aged 11 to 18 years old. Of the 366 patients who met the inclusion criteria, 361 were included in our analysis. The primary dependent variable included days until athlete was able to return to play (RTP). Independent variables of interest included age, gender, academic performance, comorbid factors, sports, on-field markers, days until initial neurological evaluation, Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT®) scores, acute headache rescue medications, chronic headache medication, sleep medication, and referral to concussion rehabilitation program. Variables associated with longer median RTP were being female (35 days), having a referral to concussion rehabilitation program (53 days), being prescribed acute headache rescue therapy (34 days), and having chronic headache treatment (53 days) (all p fashion in order to prevent delayed recovery and return to play.

  16. Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

    Directory of Open Access Journals (Sweden)

    Susanne Buechner

    2015-01-01

    Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

  17. Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

    Science.gov (United States)

    Davis, Kathleen; Holden, Kenton R; S'Aulis, Dana; Amador, Claudia; Matheus, M Gisele; Rizzo, William B

    2013-10-01

    Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran patients who carried the same novel homozygous nonsense mutation (c.1309A>T, p.K437X) and ALDH3A2 DNA haplotype, but widely differed in disease severity. One patient exhibited spastic quadriplegia with unusual neuroregression, whereas the other patient had the usual static form of spastic diplegia with neurodevelopmental disabilities. Biochemical analyses showed a similar profound deficiency of fatty aldehyde dehydrogenase activity and impaired fatty alcohol metabolism in both patients' cultured fibroblasts. These results indicate that variation in the neurologic phenotype of Sjögren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or the biochemical defect as expressed in cultured fibroblasts, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.

  18. Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette syndrome

    Directory of Open Access Journals (Sweden)

    Yoko eNagai

    2015-09-01

    Full Text Available This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in Epilepsy and tics in Tourette Syndrome (TS. In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g. syncope, or in relation to Sudden Unexpected Death in Epilepsy (SUDEP. Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behaviour influence central nervous system thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated

  19. Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette Syndrome.

    Science.gov (United States)

    Nagai, Yoko

    2015-01-01

    This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in epilepsy and TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behavior influence central thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated to gain a strong position within the next generation of treatment for epilepsy, as a non-invasive technique with minimal side effects. This approach also takes advantage of the current practical opportunity to utilize growing digital health technology.

  20. 99mTc-HMPAO SPECT in pediatric patients with neurological disorders

    International Nuclear Information System (INIS)

    Yamaoka, Mitsuko

    1994-01-01

    In 125 pediatric patients with suspected brain diseases, EEG, CT and MRI findings were compared with those obtained with single photon emission computed tomography (SPECT) of the brain using Tc-99m-d, 1-hexamethyl-propylene amine oxime ( 99m Tc-HMPAO), to determine the usefulness of SPECT as an adjunct to EEG, CT and MRI in this age group. The incidences of abnormal finding in the 125 patients were 53.6, 75.2, 60.6 and 51.4% using 99m Tc-HMPAO SPECT, EEG, CT and MRI respectively. In localization-related epilepsy and cerebrovascular diseases, the incidence of abnormality was higher with 99m Tc-HMPAO SPECT than with either CT or MRI. There was a tendency for mean age to be higher and mean IQ or DG lower in patients with more extensive abnormality in comparison to those who had normal or only focally abnormal SPECT findings. Nevertheless, some patients showed focal hypofusion in the frontal or occipital area without significant mental retardation. Epileptic foci detected by EEG corresponded to defects found using 99m Tc-HMPAO SPECT in 34.8% of the symptomatic localization-related epileptic patients. Pathological lesions detected by CT or MRI corresponded with SPECT findings in 48.1% of patients. Furthermore, the incidence of abnormal findings on SPECT was 30% in patients in whom CT or MRI was normal. Epileptic foci detected by EEG did not correspond well with the area of focal hyperfusion found on SPECT. Focal hyperfusion may sometimes occur even in the interictal period or postictal period in childhood seizure disorders. In conclusion, 99m Tc-HMPAO SPECT revealed abnormal findings at a moderate incidence in neuropediatric patients. Correlations with EEG, CT and MRI findings as well as assessment of clinical signs, including the investigation of epileptic foci, are essential for adequate interpretation of brain functions. (author)

  1. A Pilot Study of Reasons and Risk Factors for "No-Shows" in a Pediatric Neurology Clinic.

    Science.gov (United States)

    Guzek, Lindsay M; Fadel, William F; Golomb, Meredith R

    2015-09-01

    Missed clinic appointments lead to decreased patient access, worse patient outcomes, and increased healthcare costs. The goal of this pilot study was to identify reasons for and risk factors associated with missed pediatric neurology outpatient appointments ("no-shows"). This was a prospective cohort study of patients scheduled for 1 week of clinic. Data on patient clinical and demographic information were collected by record review; data on reasons for missed appointments were collected by phone interviews. Univariate and multivariate analyses were conducted using chi-square tests and multiple logistic regression to assess risk factors for missed appointments. Fifty-nine (25%) of 236 scheduled patients were no-shows. Scheduling conflicts (25.9%) and forgetting (20.4%) were the most common reasons for missed appointments. When controlling for confounding factors in the logistic regression, Medicaid (odds ratio 2.36), distance from clinic, and time since appointment was scheduled were associated with missed appointments. Further work in this area is needed. © The Author(s) 2014.

  2. Reflections on Ethics and Humanity in Pediatric Neurology: the Value of Recognizing Ethical Issues in Common Clinical Practice.

    Science.gov (United States)

    Ronen, Gabriel M; Rosenbaum, Peter L

    2017-05-01

    Our goals in this reflection are to (i) identify the ethical dimensions inherent in any clinical encounter and (ii) bring to the forefront of our pediatric neurology practice the myriad of opportunities to explore and learn from these ethical questions. We highlight specifically Beauchamp and Childress's principles of biomedical ethics. We use the terms ethics in common clinical practice and an ethical lens to remind people of the ubiquity of ethical situations and the usefulness of using existing ethical principles to analyze and resolve difficult situations in clinical practice. We start with a few common situations with which many of us tend to struggle. We describe what we understand as ethics and how and why developments in technology, novel potential interventions, policies, and societal perspectives challenge us to think about and debate ethical issues. Individual patients are not a singular population; each patient has their own unique life situations, culture, goals, and expectations that need to be considered with a good dose of humanity and humility. We believe that using an ethical lens-by which we mean making an explicit effort to identify and consider these issues openly-will help us to achieve this goal in practice, education, and research.

  3. Association of neurological diseases with metabolic syndrome among out-patients

    International Nuclear Information System (INIS)

    Ueno, Satoshi; Furiya, Yoshiko; Sugie, Kazuma; Kawahara, Makoto; Kataoka, Hiroshi; Saito, Kozue; Kiriyama, Takao; Kinoshita, Satoko; Hirano, Makito

    2007-01-01

    Metabolic syndrome (MetS) is highly prevalent in Japan; however, most previous surveys have studied only adults able to engage fully in normal daily activities, after excluding persons with diseases or disabilities. Recently, lifestyle-related risk factors have been strongly linked to a number of major diseases. In particular, the incidence of atherosclerotic vascular diseases associated with MetS has increased markedly, and this trend is projected to continue. We focused on the prevalence of MetS among out-patients with neurological diseases. The subjects for this hospital-based study were 713 out-patients with various neurological diseases (329 men, mean age 65.2±14.5 yr, age range 40-78 yr, and 384 women, mean age 64.6±15.3 yr, age range 40-88 yr) who presented at the Department of Neurology, Nara Medical University Hospital. A total of 120 patients had cerebral infarction, 102 Parkinson's disease, 32 spinal spondylosis, 30 headache, 32 myositis, and the rest various other neurological diseases. MetS was diagnosed according to the criteria proposed by The Japanese Society of Internal Medicine in 2005. The cutoff values for waist circumference (WC) were greater than 85 cm in men and 90 cm in women. A diagnosis of MetS additionally required two or more of the following: a serum triglyceride level (TG) of at least 150 mg/dl and/or a high-density lipoprotein cholesterol level (HDL-C) of less than 40 mg/dl; a blood pressure (BP) of greater than 130/85; or a fasting plasma glucose level (FPG) of greater than 110 mg/dl. Visceral fat accumulation was measured by abdominal CT scanning (N2system, K.K., Japan). WC positively correlated with visceral fat area as determined by CT scanning. WC also positively correlated with TG in both sexes and fasting blood sugar (FBS) in women, but negatively correlated with HDL-C in both sexes. The mean prevalence of MetS among subjects 40 to 70 years of age was 25.1% in men and 12.6% in women. To assess the incidence of MetS in the

  4. [The role of lactate acidosis in the development and treatment of various neurologic syndromes in children and adolescents].

    Science.gov (United States)

    Arveladze, G A; Geladze, N M; Sanikidze, T B; Khachapuridze, N S; Bakhtadze, S Z

    2015-02-01

    The aim of the study was to detect the role of lactate acidosis, also to find the share of mitochondrial insufficiency in development of various neurologic syndromes in children and adolescents. The detection of cellular energetic metabolism and acid based imbalance is also important for finding the specific method of management. We have studied 200 patients with various degree of neurodevelopment delay with epilepsy and epileptic syndromes, headache, vertigo, early strokes, floppy infant syndrome, atrophy of ophthalmic nerve, cataracta, neurosensory deafness, systemic myopathy, cerebral palsy. In 27% of cases with various ages we have detected lactate acidosis and increase level of pyruvate. Mitochondrial insufficiency was seen in 8% of cases which gives us opportunity to find the specific method of treatment in this group of patients. Each patient with neurological symptoms requires correction of parameters of energetic and oxidative metabolism.

  5. Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography

    International Nuclear Information System (INIS)

    Yanai, Kazuhiko; Tohoku Univ., Sendai; Iinuma, Kazuie; Miyabayashi, Shigeaki; Narisawa, Kuniaki; Tada, Keiya; Matsuzawa, Taiju; Tohoku Univ., Sendai; Ito, Masatoshi; Yamada, Kenji

    1987-01-01

    We measured local cerebral glucose utilization in 19 patients with Lennox-Gastaut syndrome (LG), partial seizures (PS), atypical and classical phenylketonuria (PKU), Leigh disease, and subacute sclerosing panencephalitis (SSPE), using positron emission tomography (PET). The mean values of regional glucose utilization in interictal scans of LG were significantly reduced in all brain regions when compared with that of PS (P<0.005). PET studies of glucose utilization in LG revealed more widespread hypometabolism than in PS. Two sibling with dihydropteridine reductase deficiency, a patient with classical PKU, and a boy with cytochrome c oxidase deficiency showed reduced glucose utilization in the caudate and putamen. A marked decrease in glucose utilization was found in the cortical gray matter of a patient with rapidly progressive SSPE, despite relatively preserved utilization in the caudate and putamen. The PET study of a patient with slowly progressive SSPE revealed patterns and values of glucose utilization similar to those of the control. Thus, PET provided a useful clue toward understanding brain dysfunction in LG, PS, PKU, Leigh disease, and SSPE. (orig.)

  6. Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Yanai, Kazuhiko; Iinuma, Kazuie; Miyabayashi, Shigeaki; Narisawa, Kuniaki; Tada, Keiya; Matsuzawa, Taiju; Ito, Masatoshi; Yamada, Kenji

    1987-09-01

    We measured local cerebral glucose utilization in 19 patients with Lennox-Gastaut syndrome (LG), partial seizures (PS), atypical and classical phenylketonuria (PKU), Leigh disease, and subacute sclerosing panencephalitis (SSPE), using positron emission tomography (PET). The mean values of regional glucose utilization in interictal scans of LG were significantly reduced in all brain regions when compared with that of PS (P<0.005). PET studies of glucose utilization in LG revealed more widespread hypometabolism than in PS. Two sibling with dihydropteridine reductase deficiency, a patient with classical PKU, and a boy with cytochrome c oxidase deficiency showed reduced glucose utilization in the caudate and putamen. A marked decrease in glucose utilization was found in the cortical gray matter of a patient with rapidly progressive SSPE, despite relatively preserved utilization in the caudate and putamen. The PET study of a patient with slowly progressive SSPE revealed patterns and values of glucose utilization similar to those of the control. Thus, PET provided a useful clue toward understanding brain dysfunction in LG, PS, PKU, Leigh disease, and SSPE.

  7. Neurological abnormalities in recent-onset schizophrenia and Asperger-Syndrome

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    Dusan eHirjak

    2014-08-01

    Full Text Available Background: Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination, and sequencing of complex motor acts are frequently found in patients with schizophrenia and commonly referred to as neurological soft signs (NSS. Asperger-Syndrome (AS is characterized by sensory-motor difficulties as well. However, the question whether the two disorders share a common or a disease-specific pattern of NSS remains unresolved. Method: A total of 78 age- and education-matched participants (26 patients with recent-onset schizophrenia, 26 individuals with AS, and 26 healthy controls were recruited for the study. Analyses of covariance (ANCOVAs, with age, years of education and medication included as covariates, were used to examine group differences on total NSS and the five subscale scores. Discriminant analyses were employed to identify the NSS subscales that maximally discriminate between the three groups. Results: Significant differences among the three groups were found in NSS total score and on the five NSS subscales. The two clinical groups differed significantly in the NSS subscale „motor coordination. The correct discriminant rate between patients with schizophrenia and individuals with AS was 61.5%. The correct discriminant rate was 92.3% between individuals with AS and healthy controls, and 80.8% between schizophrenia patients and healthy controls, respectively. Conclusions: Our findings provide new evidence for the presence of NSS in AS and lend further support to previously reported difficulties in movement control in this disorder. According to the present results, schizophrenia and AS seem to be characterized by a different pattern of NSS.

  8. The Differencies in Adult and Pediatric Myelodysplastic Syndrome: A Review

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    Vasekova P

    2016-08-01

    Full Text Available Myelodysplastic syndrome (MDS represent very heterogenous group of clonal stem cell bone marrow disorders with ineffective haematopoesis leading to cytopenias in peripheral blood and increased risk of blastic transformation and evolution of acute myeloid leukemia. MDS is a disease of older age mostly, in children it seems to be very rare. There are several significant morphological, cytogenetic and prognostic differencies of the disease in adults and in children. Adult MDS patients most commonly manifest with symptoms of anemia, bleeding and infection are uncommon. In childhood, MDS manifests predominantly by neutropenia and thrombocytopenia. In addition, some pediatric MDS patients present also with constitutional disease’s signs and symptoms. Early and correct diagnosis in both age groups is essential for the choice of appropriate therapy and also for next life of patients. However, the diagnosis of MDS is challenging, complex and requiring close correlation of clinical symptoms, laboratory parameters and standardized examination of BM biopsies. The authors present an overview focused on biology of MDS in adults and children, on the differences in the incidence, clinical presentation and treatment. They summarize the possibilities and limits of histopathological diagnosis and differential diagnosis of the disease in different age groups. A major problem in the morphological diagnosis of MDS remains the determination, whether the myelodysplasia is due to clonal disorder. It might result also from some other factors, as significant dysplasia can also occur in reactive conditions, and vice versa, only discrete dysplasia is sometimes observed in MDS patients. Although histomorphological and immunohistochemical analysis of BM biopsy is invasive and time-consuming examination, it has its value in the diagnosis, differential diagnosis and evaluation of therapeutic effect.

  9. Characterization of the Pediatric Acute-Onset Neuropsychiatric Syndrome Phenotype

    Science.gov (United States)

    Patel, Priyal D.; McGuire, Joseph F.; Kennel, Allison; Mutch, P. Jane; Parker-Athill, E. Carla; Hanks, Camille E.; Lewin, Adam B.; Storch, Eric A.; Toufexis, Megan D.; Dadlani, Gul H.; Rodriguez, Carina A.

    2015-01-01

    Abstract Objective: Pediatric acute-onset neuropsychiatric syndrome (PANS) is a subtype of obsessive compulsive disorder (OCD) marked by an abrupt onset or exacerbation of neuropsychiatric symptoms. We aim to characterize the phenotypic presentation of youth with PANS. Methods: Forty-three youth (ages 4–14 years) meeting criteria for PANS were assessed using self-report and clinician-administered measures, medical record reviews, comprehensive clinical evaluation, and laboratory measures. Results: Youth with PANS presented with an early age of OCD onset (mean=7.84 years) and exhibited moderate to severe obsessive compulsive symptoms upon evaluation. All had comorbid anxiety and emotional lability, and scored well below normative means on all quality of life subscales. Youth with elevated streptococcal antibody titers trended toward having higher OCD severity, and presented more frequently with dilated pupils relative to youth without elevated titers. A cluster analysis of core PANS symptoms revealed three distinct symptom clusters that included core characteristic PANS symptoms, streptococcal-related symptoms, and cytokine-driven/physiological symptoms. Youth with PANS who had comorbid tics were more likely to exhibit a decline in school performance, visuomotor impairment, food restriction symptoms, and handwriting deterioration, and they reported lower quality of life relative to youth without tics. Conclusions: The sudden, acute onset of neuropsychiatric symptoms, high frequency of comorbidities (i.e., anxiety, behavioral regression, depression, and suicidality), and poor quality of life capture the PANS subgroup as suddenly and severely impaired youth. Identifying clinical characteristics of youth with PANS will allow clinicians to diagnose and treat this subtype of OCD with a more strategized and effective approach. PMID:25314221

  10. Pediatric Acute Respiratory Distress Syndrome: Fluid Management in the PICU

    NARCIS (Netherlands)

    Ingelse, Sarah A.; Wösten-van Asperen, Roelie M.; Lemson, Joris; Daams, Joost G.; Bem, Reinout A.; van Woensel, Job B.

    2016-01-01

    The administration of an appropriate volume of intravenous fluids, while avoiding fluid overload, is a major challenge in the pediatric intensive care unit. Despite our efforts, fluid overload is a very common clinical observation in critically ill children, in particular in those with pediatric

  11. Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Kola

    2017-01-01

    Full Text Available Susac syndrome is a rare occlusive vasculopathy affecting the retina, inner ear and brain. The cause is unknown, although it generally affects young women. This syndrome can be difficult to diagnose because its signs can only be revealed by detailed examination. These signs are not always concomitant, but may appear at different times. This report describes a pediatric case who was diagnosed with Susac syndrome when retinal lesions were identified in the inactive period with the help of optical coherence tomography (OCT. The purpose of this case report is to emphasize the importance of OCT in clarifying undefined retinal changes in Susac syndrome.

  12. Conn syndrome and Crohn disease in a pediatric case: an interesting parallel.

    Science.gov (United States)

    Rodriguez, Manuel A; Alkhoury, Fuad; Malvezzi, Leopoldo; Diaz, Alejandro

    2013-01-01

    Conn syndrome is characterized by surreptitious secretion of aldosterone in which patients are found to have hypertension, hypokalemia, and metabolic alkalosis. Although rare, the most common presentation in the pediatric population is bilateral hyperplasia of the adrenal glands as opposed to an adenoma. Crohn disease is part of the spectrum of inflammatory bowel disease, which manifests in children as flare-ups of bloody diarrhea and abdominal pain. The association of concurrent Conn syndrome and Crohn disease has been previously presented in two cases in adults. This is the first pediatric case to be reported in the literature.

  13. 18F-FDG-PET/CT in the diagnosis of paraneoplastic neurological syndromes: a retrospective analysis

    International Nuclear Information System (INIS)

    Bannas, Peter; Weber, Christoph; Adam, Gerhard; Derlin, Thorsten; Lambert, Joerg; Mester, Janos; Klutmann, Susanne; Leypoldt, Frank

    2010-01-01

    Paraneoplastic neurological syndromes (PNS) constitute a challenging diagnostic problem, as the underlying tumour often remains unidentified for a long time, even with frequent conventional diagnostic procedures. For appropriate patient management timely identification of the tumour is critical. We evaluated the value of 18 F-FDG-PET/CT in the investigation of PNS. The case notes of 46 consecutive patients with clinically suspected PNS who underwent 18 F-FDG-PET/CT were reviewed retrospectively and the performance of PET/CT for detecting underlying tumours was assessed. PET/CT detected foci of increased 18 F-FDG uptake in 10 out of 46 patients. In six of these 10 patients combined PET/CT identified the underlying disease: four patients suffered from PNS; vasculitic and local metastatic disease was detected in two other patients. Based on our results, we believe that the role of positron emission tomography in the detection of occult neoplasms in patients with PNS has been overestimated in the past. In clinical practice, PNS is far more often suspected than proven. In our study combined PET/CT identified malignancy as the underlying cause of suspected PNS in only 8.7% (4/46). We believe that combined PET/CT should be reserved for stringently selected patients with a high clinical index of suspicion for PNS and after conventional imaging techniques fail to detect a tumour. (orig.)

  14. Posterior reversible encephalopathy syndrome in a B-cell acute lymphoblastic leukemia young adult patient treated with a pediatric-like chemotherapeutic schedule

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    Cristina Papayannidis

    2014-09-01

    Full Text Available We report here the case of a young adult affected by pre B-cell acute lymphoblastic leukemia (ALL, who developed, during a pediatric-like chemotherapy consolidation schedule with high dosage of Methotrexate, a severe neurological toxicity. Clinical presentation and neuroimaging data were diagnostic for posterior reversible encephalopathy syndrome (PRES. A complete resolution was quickly obtained with medical blood pressure control and anticonvulsants administration. To the best of our knowledge, this is the first case of PRES described in the adult ALL setting. Currently, the clinical management of this aggressive disease is moving towards a pediatric-like approach also in adult patients, due to the better outcome reached with intensive chemotherapeutic regimens in children population. However, therapy-related toxicities have to be taken into account, since their onset may adversely affect patients’ clinical outcome.

  15. Poor Adherence to Lung-Protective Mechanical Ventilation in Pediatric Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Ward, Shan L; Quinn, Carson M; Valentine, Stacey L; Sapru, Anil; Curley, Martha A Q; Willson, Douglas F; Liu, Kathleen D; Matthay, Michael A; Flori, Heidi R

    2016-10-01

    To determine the frequency of low-tidal volume ventilation in pediatric acute respiratory distress syndrome and assess if any demographic or clinical factors improve low-tidal volume ventilation adherence. Descriptive post hoc analysis of four multicenter pediatric acute respiratory distress syndrome studies. Twenty-six academic PICU. Three hundred fifteen pediatric acute respiratory distress syndrome patients. All patients who received conventional mechanical ventilation at hours 0 and 24 of pediatric acute respiratory distress syndrome who had data to calculate ideal body weight were included. Two cutoff points for low-tidal volume ventilation were assessed: less than or equal to 6.5 mL/kg of ideal body weight and less than or equal to 8 mL/kg of ideal body weight. Of 555 patients, we excluded 240 for other respiratory support modes or missing data. The remaining 315 patients had a median PaO2-to-FIO2 ratio of 140 (interquartile range, 90-201), and there were no differences in demographics between those who did and did not receive low-tidal volume ventilation. With tidal volume cutoff of less than or equal to 6.5 mL/kg of ideal body weight, the adherence rate was 32% at hour 0 and 33% at hour 24. A low-tidal volume ventilation cutoff of tidal volume less than or equal to 8 mL/kg of ideal body weight resulted in an adherence rate of 58% at hour 0 and 60% at hour 24. Low-tidal volume ventilation use was no different by severity of pediatric acute respiratory distress syndrome nor did adherence improve over time. At hour 0, overweight children were less likely to receive low-tidal volume ventilation less than or equal to 6.5 mL/kg ideal body weight (11% overweight vs 38% nonoverweight; p = 0.02); no difference was noted by hour 24. Furthermore, in the overweight group, using admission weight instead of ideal body weight resulted in misclassification of up to 14% of patients as receiving low-tidal volume ventilation when they actually were not. Low

  16. Diagnostic work-up of neurological syndromes in a rural African setting: knowledge, attitudes and practices of health care providers.

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    Alain Mpanya

    Full Text Available BACKGROUND: Neurological disorders of infectious origin are common in rural sub-Saharan Africa and usually have serious consequences. Unfortunately, these syndromes are often poorly documented for lack of diagnostic tools. Clinical management of these diseases is a major challenge in under-equipped rural health centers and hospitals. We documented health care provider knowledge, attitudes and practices related to this syndrome in two rural health zones in Bandundu Province, Democratic Republic of Congo. METHODS: We used a qualitative research approach combining observation, in-depth interviews and focus group discussions. We observed 20 patient-provider contacts related to a neurological syndrome, conducted 12 individual interviews and 4 focus group discussions with care providers. All interviews were audiotaped and the transcripts were analyzed with the software ATLAS.ti. RESULTS: Care providers in this region usually limit their diagnostic work-up to clinical examination primarily because of the financial hurdles in this entirely out-of-pocket payment system. The patients prefer to purchase drugs rather than diagnostic tests. Moreover the general lack of diagnostic tools and the representation of the clinician as a "diviner" do not enhance any use of laboratory or other diagnostic methods. CONCLUSION: Innovation in diagnostic technology for neurological disorders is badly needed in Central-Africa, but its uptake in clinical practice will only be a success if tools are simple, affordable and embedded in a patient-centered approach.

  17. On the use of a continuous metabolic syndrome score in pediatric research

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    Eisenmann Joey C

    2008-06-01

    Full Text Available Abstract Background The constellation of elevated levels of abdominal adiposity, blood pressure, glucose, and triglycerides and lowered high-density lipoprotein-cholesterol has been termed the metabolic syndrome. Given the current pediatric obesity epidemic, it is perhaps not surprising that recent reports suggest the emergence of the metabolic syndrome during childhood and adolescence. The aim of this paper is to provide an overview of the derivation and utility of the continuous metabolic syndrome score in pediatric epidemiologic research. Methods/Design Data were generated from published papers related to the topic. Conclusion Although there is no universal definition in children or adolescence, recent estimates indicate that approximately 2–10% of youth possess the metabolic syndrome phenotype. Since there is no clear definition and the prevalence rate is relatively low, several authors have derived a continuous score representing a composite risk factor index (i.e., the metabolic syndrome score. This paper provides an overview of the derivation and utility of the continuous metabolic syndrome score in pediatric epidemiological research.

  18. [Neurological syndromes linked with the intake of plants and fungi containing a toxic component (I). Neurotoxic syndromes caused by the ingestion of plants, seeds and fruits].

    Science.gov (United States)

    Carod-Artal, F J

    A wide range of plants, seeds and fruits used for nutritional and medicinal purposes can give rise to neurotoxic symptoms. We review the neurological pathology associated with the acute or chronic consumption of plants, seeds and fruits in human beings and in animals. Of the plants that can trigger acute neurotoxic syndromes in humans, some of the most notable include Mandragora officinalis, Datura stramonium, Conium maculatum (hemlock), Coriaria myrtifolia (redoul), Ricinus communis, Gloriosa superba, Catharanthus roseus, Karwinskia humboldtiana and Podophyllum pelatum. We also survey different neurological syndromes linked with the ingestion of vegetable foodstuffs that are rich in cyanogenic glycosides, Jamaican vomiting sickness caused by Blighia sapida, Parkinson dementia ALS of Guam island and exposition to Cycas circinalis, Guadeloupean parkinsonism and exposition to Annonaceae, konzo caused by ingestion of wild manioc and neurolathyrism from ingestion of Lathyrus sativus, the last two being models of motor neurone disease. Locoism is a chronic disease that develops in livestock feeding on plants belonging to Astragalus and Oxytropis sp., Sida carpinifolia and Ipomea carnea, which are rich in swainsonine, a toxin that inhibits the enzyme alpha mannosidase and induces a cerebellar syndrome. The ingestion of neurotoxic seeds, fruits and plants included in the diet and acute poisoning by certain plants can give rise to different neurological syndromes, some of which are irreversible.

  19. The impact of metabolic syndrome on child weight outcomes in pediatric obesity program for Mexican Americans

    Science.gov (United States)

    Adults with metabolic syndrome (MetS) are three to five times more likely to develop type 2 diabetes and cardiovascular disease. Given the long term consequences of MetS, the growing number of children meeting criteria for MetS is concerning. In order to determine the impact of MetS on pediatric wei...

  20. Neurological Soft Signs, Spontaneous and Treatment Emergent Extrapyramidal Syndromes in Black Africans With First Episode Schizophrenia

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    Akin Ojagbemi

    2018-05-01

    Full Text Available Background: Very little is known about the relationship between spontaneous and treatment-induced motor syndromes in Africans with first episode schizophrenia.Objective: We investigated the association between spontaneous NSS and EPS, with treatment-induced EPS in a homogenous sample of Black Africans with first episode schizophrenia.Methods: We examined Xhosa (South Africa and Yoruba (Nigeria patients, using the Neurological Evaluation Scale and extrapyramidal symptoms scale before and at 3 months after exposure to low dose flupenthixol decanoate. Pearson's correlations and Linear regression models, controlling for duration of untreated psychosis (D.U.P and premorbid adjustments, were used in examining associations.Results: Among 99 participants in the baseline sample, 91 (91.8% and 20 (20.2% had at least one definite NSS and EPS, respectively, before exposure to antipsychotics. Treatment-induced EPS were recorded in 34 (38.6%. Spontaneous EPS was associated with treatment-emergent Akathisia in participants with a longer D.U.P (r = 0.75, β = 0.70, p = 0.008. This association was specific for Parkinsonism (r = 0.75, β = 0.85, p = 0.008 and dyskinesia (r = 0.75, β = 1.70, p = 0.008.Conclusion: Similar to previous findings for tardive dyskinesia in studies implementing longer-term follow-up, spontaneous EPS may also predict short-term antipsychotic-induced EPS such as akathisia. These results may be important for early identification of patients at risk of treatment-induced Akathisia-linked psychomotor agitation in first episode schizophrenia.

  1. Progress in Pediatrics in 2012: choices in allergy, endocrinology, gastroenterology, hematology, infectious diseases, neurology, nutrition and respiratory tract illnesses.

    Science.gov (United States)

    Caffarelli, Carlo; Santamaria, Francesca; Vottero, Alessandra; Bernasconi, Sergio

    2013-05-08

    In this review, we summarize the progresses in allergy, endocrinology, gastroenterology, hematology, infectious diseases, neurology, nutrition and respiratory tract illnesses that have been published in The Italian Journal of Pediatrics in 2012. The induction of Treg activity by probiotics might be effective for promoting tolerance towards food allergens. Nasal cytology is useful in patients with rhinitis for diagnosing chronic non-allergic non-infectious diseases. Atopic eczema is associated both with an aberrant skin matrix and impaired systemic immune response. Therefore, isolated topical treatment may have suboptimal effect. Diagnostic work-up of exercise-induced anaphylaxis, including exercise challenge test, is necessary to reach a diagnosis. Studies may support a role for nutrition on prevention of asthma and cardiovascular diseases. Clinicians need to early identify adolescent menstrual abnormalities to minimize sequelae, and to promote health information. In Multiple Endocrine Neoplasia type 2B investigations include acetylcholinesterase study of rectal mucosa followed by the molecular analysis of RET mutation. Low adherence to gluten-free diet and osteopenia are common problems in children with diabetes mellitus type 1 and celiac disease. In infantile colic, laboratory tests are usually unnecessary and the treatment is based on reassurance. Prevalence of obesity and stunting is elucidated by several studies. Evidences are growing that dietetic measures are needed to prevent obesity in children with acute leukemia. Treatment studies for infectious diseases show promise for probiotics along with standard triple therapy in children with Helicobacter pilori infection, while zinc has no effect on pneumonia. Educational programs about the proper management of the febrile child are warranted. A new hour-specific total serum bilirubin nomogram has been shown to be able to predict newborns without hyperbilirubinemia after 48 to 72 hours of life. Newborns with

  2. Aggressive Fluid Resuscitation in Severe Pediatric Hyperglycemic Hyperosmolar Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Sharara-Chami Rana

    2010-03-01

    Full Text Available Objective. This report describes a severe case of hyperglycemic hyperosmolar syndrome complicated by rhabdomyolysis, acute kidney injury, hyperthermia, and hypovolemic shock, with management centred upon fluid administration. Design. Case report. Setting. Pediatric intensive care unit in university teaching hospital. Patients. 12 years old adolescent female presenting with hyperglycemic hyperosmolar syndrome with a new diagnosis of type 2 diabetes mellitus. Intervention. Aggressive fluid resuscitation and insulin. Main results. The patient had a good outcome, discharged home on hospital day 6. Conclusions. Hyperglycemic hyperosmolar syndrome is associated with a number of complications. Management strategies are undefined, given the rarity of its presentation, and further studies are warranted.

  3. Comparison between a pediatric health promotion center and a pediatric obesity clinic in detecting metabolic syndrome and non-alcoholic fatty liver disease in children.

    Science.gov (United States)

    Yang, Hye Ran; Yi, Dae Yong; Choi, Hyoung Soo

    2014-12-01

    This study was done to evaluate the efficacy of health check-ups in children in detecting metabolic syndrome and non-alcoholic fatty liver disease (NAFLD) by comparing the pediatric health promotion center with the pediatric obesity clinic. Children who visited a pediatric health promotion center (n=218) or a pediatric obesity clinic (n=178) were included. Anthropometric data, blood pressure, laboratory tests, and abdominal ultrasonography were evaluated. Two different criteria were applied to diagnose metabolic syndrome. The prevalence of metabolic syndrome in the 2 units was 3.2%-3.7% in a pediatric health promotion center and 23%-33.2% in a pediatric obesity clinic. Significant differences were observed in the prevalence of each component of metabolic syndrome between the 2 units including abdominal adiposity, blood pressure, serum triglycerides, and fasting blood glucose (Pobesity clinic targeting obese children than that among patients visiting the health promotion center offering routine check-ups. An obesity-oriented approach is required to prevent obesity-related health problems in children.

  4. Treating Lennox–Gastaut syndrome in epileptic pediatric patients with third-generation rufinamide

    Directory of Open Access Journals (Sweden)

    Jessica Gresham

    2010-09-01

    Full Text Available Jessica Gresham1, Lea S Eiland2,3, Allison M Chung2,41Auburn University, Harrison School of Pharmacy (AUHSOP, 2Department of Pharmacy Practice, AUHSOP, 3University of Alabama, School of Medicine, Huntsville Regional Medical Campus, 4University of South Alabama School of Medicine, Department of Pediatrics, Mobile, Alabama, USAAbstract: Lennox–Gastaut syndrome (LGS is a rare but debilitating pediatric epileptic encephalopathy characterized by multiple intractable seizure types. Treatment of LGS is challenging because of the small number of antiepileptic drugs (AEDs which are effective for this syndrome, as well as the need for polytherapy in the majority of patients. This review focuses on the treatment of LGS with rufinamide, a recently approved third-generation AED with reported efficacy as adjunctive therapy for LGS. All relevant papers identified through a PubMed search on the treatment of LGS with rufinamide were reviewed. To date, the literature suggests improvements in seizure frequency for pediatric patients with LGS on rufinamide. Rufinamide appears to be especially effective for atonic or drop attack seizures. Rufinamide also displays a favorable adverse event profile compared with the older anticonvulsants, as well as a minimal number of drug interactions, making it a promising option for the adjunctive treatment of seizures associated with LGS.Keywords: epilepsy, Lennox-Gastaut syndrome, pediatrics, seizure, rufinamide

  5. Circulating dendritic cells in pediatric patients with nephrotic syndrome

    African Journals Online (AJOL)

    Background: Dendritic cells (DCs) represent one of the most extensively studied topics in immunology, because of their central role in the induction and regulation of adaptive immunity, and because of their therapeutic potential for manipulating immune responses. Objectives: To evaluate circulating DC levels in pediatric ...

  6. The low level laser therapy in the management of neurological burning mouth syndrome. A pilot study

    Science.gov (United States)

    Romeo, Umberto; Del Vecchio, Alessandro; Capocci, Mauro; Maggiore, Claudia; Ripari, Maurizio

    2010-01-01

    Summary Background and objective. Burning Mouth Syndrome (BMS) is a common disease but still a diagnostic and therapeutic challenge for clinicians. Despite many studies its nature remains obscure and controversial; nowadays there is no consensus about definition, diagnosis and classification. BMS is characterized clinically by burning sensations in the tongue or other oral sites, often without clinical and laboratory findings. According to the etiology, BMS cases should be subdivided into three subtypes: BMS by local factors (lfBMS), BMS by systemic factors (sfBMS) and neurological BMS (nBMS), the most frequent, in which the symptom is caused by central or peripheral neurological malfunctions affecting in particular the taste pathway. To establish the type of BMS, both anamnesis and clinical examination, including laboratory tests, are necessary; nBMS cases will be recognized by exclusion of any other type. In case of lfBMS or sfBMS, the treatment of the main pathology will be resolutive; in nBMS cases many Authors proposed different pharmacological trials without satisfactory results and the current opinion is that a multidisciplinary approach is required to keep the condition under control. This pilot study aimed to investigate whether the biostimulative effect of Low Level Laser Therapy (LLLT) could enhance the symptoms of nBMS cases, improving patients’ quality of life. Study design/materials and methods. Among 160 patients affected by oral burning sensation attending to the Oral Pathology Complex Operative Unit of the Department of Stomatological Sciences of Sapienza University of Rome, 77 resulted affected by nBMS. Twenty-five of these patients, 16 females and 9 males, were randomly selected for low level laser applications. All the patients were irradiated with a double diode laser (Lumix 2 Prodent, Italy) emitting contemporarily at 650 nm and 910 nm, with a fluence of 0.53 J/cm2 for 15 minutes twice a week for 4 weeks. The areas of irradiation were the

  7. Peregrination in the problem pediatric patient. The pediatric Münchhausen syndrome?

    Science.gov (United States)

    Fialkov, M J

    1984-10-01

    Peregrinating pediatric patients are those who go from physician to physician either within hospitals or from clinic to clinic within a community. They are often the symptom bearers of dysfunctional multiproblem families requiring an interdisciplinary approach to diagnosis and management. Because of the obscure nature of the child's pediatric problems, such children are often shunned by the medical profession and other social agencies, setting in motion a sequence of events that can prove detrimental to the child, his family, the community, and the state. This article illustrates the need for an anticipatory, coordinated approach in the management of this complex psychosocial condition.

  8. Gut Microbiota Profiling and Gut-Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections.

    Science.gov (United States)

    Quagliariello, Andrea; Del Chierico, Federica; Russo, Alessandra; Reddel, Sofia; Conte, Giulia; Lopetuso, Loris R; Ianiro, Gianluca; Dallapiccola, Bruno; Cardona, Francesco; Gasbarrini, Antonio; Putignani, Lorenza

    2018-01-01

    Pediatric acute-onset neuropsychiatric syndrome (PANS) and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections syndrome (PANDAS) are conditions that impair brain normal neurologic function, resulting in the sudden onset of tics, obsessive-compulsive disorder, and other behavioral symptoms. Recent studies have emphasized the crosstalk between gut and brain, highlighting how gut composition can influence behavior and brain functions. Thus, the present study investigates the relationship between PANS/PANDAS and gut microbiota ecology. The gut composition of a cohort of 30 patients with PANS/PANDAS was analyzed and compared to control subjects using 16S rRNA-based metagenomics. Data were analyzed for their α- and β-diversity; differences in bacterial distribution were detected by Wilcoxon and LEfSe tests, while metabolic profile was predicted via PICRUSt software. These analyses demonstrate the presence of an altered bacterial community structure in PANS/PANDAS patients with respect to controls. In particular, ecological analysis revealed the presence of two main clusters of subjects based on age range. Thus, to avoid age bias, data from patients and controls were split into two groups: 4-8 years old and >9 years old. The younger PANS/PANDAS group was characterized by a strong increase in Bacteroidetes; in particular, Bacteroides , Odoribacter , and Oscillospira were identified as potential microbial biomarkers of this composition type. Moreover, this group exhibited an increase of several pathways concerning the modulation of the antibody response to inflammation within the gut as well as a decrease in pathways involved in brain function (i.e., SCFA, D-alanine and tyrosine metabolism, and the dopamine pathway). The older group of patients displayed a less uniform bacterial profile, thus impairing the identification of distinct biomarkers. Finally, Pearson's analysis between bacteria and anti-streptolysin O titer reveled a

  9. Safety and efficacy of aripiprazole for the treatment of pediatric Tourette syndrome and other chronic tic disorders

    Directory of Open Access Journals (Sweden)

    Cox JH

    2016-06-01

    Full Text Available Joanna H Cox,1 Stefano Seri,2,3 Andrea E Cavanna,2,4,5 1Heart of England NHS Foundation Trust, 2School of Life and Health Sciences, Aston Brain Centre, Aston University, 3Children’s Epilepsy Surgery Programme, The Birmingham Children’s Hospital NHS Foundation Trust, 4Department of Neuropsychiatry, Birmingham and Solihull Mental Health NHS Foundation Trust, Birmingham, 5Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology and UCL, London, UK Abstract: Tourette syndrome is a childhood-onset chronic tic disorder characterized by multiple motor and vocal tics and often accompanied by specific behavioral symptoms ranging from obsessionality to impulsivity. A considerable proportion of patients report significant impairment in health-related quality of life caused by the severity of their tics and behavioral symptoms and require medical intervention. The most commonly used medications are antidopaminergic agents, which have been consistently shown to be effective for tic control, but are also associated with poor tolerability because of their adverse effects. The newer antipsychotic medication aripiprazole is characterized by a unique mechanism of action (D2 partial agonism, and over the last decade has increasingly been used for the treatment of tics. We conducted a systematic literature review to assess the available evidence on the efficacy and safety of aripiprazole in pediatric patients with Tourette syndrome and other chronic tic disorders (age range: 4–18 years. Our search identified two randomized controlled trials (involving 60 and 61 participants and ten open-label studies (involving between six and 81 participants. The majority of these studies used two validated clinician-rated instruments (Yale Global Tic Severity Scale and Clinical Global Impression scale as primary outcome measures. The combined results from randomized controlled trials and open-label studies showed that aripiprazole is an

  10. Onconeuronal and antineuronal antibodies in patients with neoplastic and non-neoplastic pulmonary pathologies and suspected for paraneoplastic neurological syndrome

    Directory of Open Access Journals (Sweden)

    Michalak S

    2009-12-01

    Full Text Available Abstract Objective Onconeuronal antibodies are important diagnostic tool in patients with suspicion of paraneoplastic neurological syndromes (PNS. However, their role in PNS pathophysiology and specificity for particular neurological manifestation remains unclear. The aim of this study was to evaluate onconeuronal and antineuronal antibodies in patients with pulmonary pathologies and suspected for PNS. Materials and methods Twenty one patients with pulmonary pathologies were selected from the database of 525 consecutive patients with suspicion of PNS. Patients' sera were screened for the presence of onconeuronal and antineuronal antibodies by means of indirect immunofluorescence; the presence was confirmed by Western blotting. Clinical data were obtained from medical records, hospital data base, and questionnaire-based direct telephone contact with patients. Results Among 21 patients, aged 54 ± 11, with pulmonary pathologies, the most frequent neurological manifestations were neuropathies. Typical PNS included paraneoplastic cerebellar degeneration (PCD and limbic encephalitis (LE. We found cases with multiple onconeuronal antibodies (anti-Ri and anti-Yo and coexisting PNS (PCD/LE. Well-defined onconeuronal antibodies were identified in 23.8% of patients. Among antineuronal antibodies, the most frequent were anti-MAG (23.8%. ROC curves analysis revealed high sensitivity of onconeuronal and antineuronal antibodies for typical PNS and lower for pulmonary malignancies. Conclusions Tests for antibodies are highly sensitive for the diagnosis of typical paraneoplastic neurological syndromes. Anti-myelin and anti-MAG antibodies are associated with non-neoplastic pulmonary diseases. Patients with well-defined onconeuronal antibodies require careful screening and follow-up, because the PNS diagnosis indicates a high probability of an underlying malignancy.

  11. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Directory of Open Access Journals (Sweden)

    Esteban Uribe-Bojanini

    2017-01-01

    Full Text Available Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP, De Sanctis–Cacchione syndrome (DSC, Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia, short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T. This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

  12. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Science.gov (United States)

    Hernandez-Quiceno, Sara

    2017-01-01

    Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. PMID:28255305

  13. Cerebral imaging in pediatrics

    International Nuclear Information System (INIS)

    Gordon, I.

    1998-01-01

    Radioisotope brain imaging has focused mainly on regional cerebral blood flow (rCBF). However the use of ligand which go to specific receptor sites is being introduced in pediatrics, mainly psychiatry. rCBF is potentially available in many institutions, especially with the availability of multi-headed gamma cameras. The use of this technique in pediatrics requires special attention to detail in the manner of data acquisition and handling the child. The interpretation of the rCBF study in a child requires knowledge of normal brain maturation. The major clinical use in pediatrics is epilepsy because of the advances in surgery and the frequency of complex partial seizures. Other indications in pediatric neurology include brain death, acute neurological loss including stroke, language disorders, cerebral palsy, hypertension due to renovascular disease, traumatic brain injury and migraine. There are pediatric physiological conditions in which rCBF has been undertaken, these include anorexia nervosa, autism, Gilles de la Tourette syndrome (GTS) and attention deficit disorder-hyperactivity (ADHD). Research using different ligands to specific receptor sites will also be reviewed in pediatrics

  14. Cerebral imaging in pediatrics

    Energy Technology Data Exchange (ETDEWEB)

    Gordon, I [London, Great Ormond Street Hospital for Children (United Kingdom)

    1998-06-01

    Radioisotope brain imaging has focused mainly on regional cerebral blood flow (rCBF). However the use of ligand which go to specific receptor sites is being introduced in pediatrics, mainly psychiatry. rCBF is potentially available in many institutions, especially with the availability of multi-headed gamma cameras. The use of this technique in pediatrics requires special attention to detail in the manner of data acquisition and handling the child. The interpretation of the rCBF study in a child requires knowledge of normal brain maturation. The major clinical use in pediatrics is epilepsy because of the advances in surgery and the frequency of complex partial seizures. Other indications in pediatric neurology include brain death, acute neurological loss including stroke, language disorders, cerebral palsy, hypertension due to renovascular disease, traumatic brain injury and migraine. There are pediatric physiological conditions in which rCBF has been undertaken, these include anorexia nervosa, autism, Gilles de la Tourette syndrome (GTS) and attention deficit disorder-hyperactivity (ADHD). Research using different ligands to specific receptor sites will also be reviewed in pediatrics.

  15. Circulating dendritic cells in pediatric patients with nephrotic syndrome

    African Journals Online (AJOL)

    EL-HAKIM

    nephrotic syndrome, circulating DCs were measured by flowcytometry. Results: Circulating DC count ... parents or caregivers of each child before enrollment in the study. ..... role in initiating the primary immune response. On the basis of the ...

  16. Orphan Hereditary Syndromes in the Practice of Pediatric Endocrinologist

    Directory of Open Access Journals (Sweden)

    M.O. Ryznychuk

    2015-05-01

    Above-mentioned syndromes are caused by different gene mutations, namely Perlman syndrome — by homozygous or heterozygous mutation in DIS3L2 gene on the chromosome 2q37, Proteus syndrome — mutation in AKT1 gene on chromosome 14q32.3, Sotos syndrome 1 is caused by heterozygous mutation in NSD1 gene in the 5q35 region, Sotos syndrome 2 — by heterozygous mutation in NFIX gene on chromosome 19p13.3. Berardinelli syndrome, which is divided into four types, has four different mutations, namely: type 1 is caused by mutations in AGPAT2 gene in locus 9q34, type 2 — in BSCα2gene in locus 11q13, type 3 — by mutations in CAV1 gene (locus 7q31, type 4 — by mutation in PTRF gene located on the chromosome 17.

  17. Pediatric sleep apnea

    Science.gov (United States)

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

  18. Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

    Science.gov (United States)

    Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

    2016-07-12

    Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

  19. Mortality in Pediatric Acute Respiratory Distress Syndrome: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Wong, Judith Ju-Ming; Jit, Mark; Sultana, Rehena; Mok, Yee Hui; Yeo, Joo Guan; Koh, Jia Wen Janine Cynthia; Loh, Tsee Foong; Lee, Jan Hau

    2017-01-01

    Sparse and conflicting evidence exists regarding mortality risk from pediatric acute respiratory distress syndrome (ARDS). We aimed to determine the pooled mortality in pediatric ARDS and to describe its trend over time. MEDLINE, EMBASE, and Web of Science were searched from 1960 to August 2015. Keywords or medical subject headings (MESH) terms used included "respiratory distress syndrome, adult," "acute lung injury," "acute respiratory insufficiency," "acute hypoxemic respiratory failure," "pediatrics," and "child." Study inclusion criteria were (1) pediatric patients aged 0 days to 18 years, (2) sufficient baseline data described in the pediatric ARDS group, and (3) mortality data. Randomized controlled trials (RCTs) and prospective observational studies were eligible. Data on study characteristics, patient demographics, measures of oxygenation, and mortality were extracted using a standard data extraction form. Independent authors conducted the search, applied the selection criteria, and extracted the data. Methodological quality of studies was assessed. Meta-analysis using a random-effects model was performed to obtain pooled estimates of mortality. Meta-regression was performed to analyze variables contributing to change in mortality over time. Eight RCTs and 21 observational studies (n = 2274 patients) were included. Pooled mortality rate was 24% (95% confidence interval [CI]: 19-31). There was a decrease in mortality rates over 3 epochs (≤2000, 2001-2009, and ≥2010: 40% [95% CI: 24-59], 35% [95% CI: 21-51], and 18% [95% CI: 12-26], respectively, P < .001). Observational studies reported a higher mortality rate than RCTs (27% [95% CI: 24-29] versus 16% [95% CI: 12-20], P < .001). Earlier year of publication was an independent factor associated with mortality. Overall mortality rate in pediatric ARDS is approximately 24%. Studies conducted and published later were associated with better survival.

  20. Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.

    Directory of Open Access Journals (Sweden)

    Agnieszka Zmyslowska

    Full Text Available Wolfram syndrome (WFS is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography and MRI (magnetic resonance imaging in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs based on images of (18F fluorodeoxyglucose (FDG uptake in 7 WFS patients aged 10.1-16.0 years (mean 12.9±2.4 and in 20 healthy children aged 3-17.9 years (mean 12.8±4.1. In all patients the diagnosis of WFS was confirmed by DNA sequencing of the WFS1 gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups 13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (-1.24±1.20 vs. -0.13±1.05; p = 0.028 and cerebellum (-1.11±0.69 vs. -0.204±1.00; p = 0.036 were observed and the same tendency for cingulate (-1.13±1.05 vs. -0.15±1.12; p = 0.056, temporal lobe (-1.10±0.98 vs. -0.15±1.10; p = 0.057, parietal lobe (-1.06±1.20 vs. -0.08±1.08; p = 0.058, central region (-1.01±1.04 vs. -0.09±1.06; p = 0.060, basal ganglia (-1.05±0.74 vs. -0.20±1.07; p = 0.066 and mesial temporal lobe (-1.06±0.82 vs. -0.26±1.08; p = 0.087 was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.

  1. Burnout syndrome during residency in internal medicine and pediatrics in a country without working time directive.

    Science.gov (United States)

    Aksoy, Duygu Yazgan; Durusu Tanriover, Mine; Unal, Sule; Dizdar, Omer; Kalyoncu, Umut; Karakaya, Jale; Unal, Serhat; Kale, Gulsev

    2014-01-01

    The purpose of this paper is to demonstrate burnout syndrome among internal medicine and pediatrics residents in a country that does not have the working time directive (WTD) and also to determine the risk factors and consequent impact on efficient functioning in clinical areas. A 57-item questionnaire was given to internal medicine and pediatrics residents. Responses from 22 pediatrics and 33 internal medicine residents were evaluated. Demographic findings, burnout scores, having hobbies, social activities and reading books unrelated to medicine were similar between the two groups. Six pediatrics residents (27.3 per cent) and 11 (33.3 per cent) internal medicine residents met the criteria for clinically significant burnout. Personal accomplishment scores and reading books unrelated to medicine were found to be related to burnout. Burnout is a syndrome characterized by depersonalization, emotional exhaustion and a low sense of personal accomplishment. It is important to document burnout in countries where WTDs are not implemented. Further studies might demonstrate burnout's effect on patient safety, service quality and physician's performance.

  2. Pediatric Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Halted by Etanercept.

    Science.gov (United States)

    Gavigan, Geneviève M; Kanigsberg, Nordau D; Ramien, Michele L

    2018-02-01

    We report a case of an 11-year-old female with Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) overlap, most likely triggered by sulfamethoxazole-trimethoprim, who was treated with the combination of methylprednisolone, cyclosporine, and etanercept. Her condition stabilized and her skin involvement did not progress after the addition of etanercept. To our knowledge, this is the first report of etanercept for pediatric SJS/TEN.

  3. [Aortic root dilatation rate in pediatric patients with Marfan syndrome treated with losartan].

    Science.gov (United States)

    Mariucci, Elisabetta; Guidarini, Marta; Donti, Andrea; Lovato, Luigi; Wischmeijer, Anita; Angeli, Emanuela; Gargiulo, Gaetano D; Picchio, Fernando M; Bonvicini, Marco

    2015-12-01

    Medical therapy with angiotensin II receptor blockers/angiotensin-converting enzyme inhibitors and/or beta-blockers was reported to reduce aortic root dilatation rates in pediatric patients with Marfan syndrome. No data are available in the literature on losartan effects after 3 years of therapy. The aim of our study was to establish whether losartan reduces aortic root dilatation rates in pediatric patients with Marfan syndrome in the mid and long term. This is a retrospective analysis of 38 pediatric patients with Marfan syndrome followed at the Marfan Clinic of S. Orsola-Malpighi Hospital of the University of Bologna (Italy). Aortic diameters were measured at sinuses of Valsalva and proximal ascending aorta with transthoracic echocardiography. After a mean follow-up of 4.5 ± 2.5 years (range 2-9 years), aortic root z score at sinuses of Valsalva and proximal ascending aorta remained stable. The average annual rate of change in aortic root z score was -0.1 ± 0.4 and 0 ± 0.3 at sinuses of Valsalva and proximal ascending aorta, respectively. The mean dose of losartan was 0.7 ± 0.3 mg/kg/day. Three patients were non-responders, probably because of late beginning or low dose of therapy. Eight patients underwent cardiac surgery (aortic root surgery in 5 and mitral valve repair in 3), all of them started losartan later in life. Despite the retrospective design of the study and the small sample size, a beneficial effect of losartan therapy was observed in pediatric patients with Marfan syndrome in the mid and long term. Late beginning or low doses of losartan can turn off the effects of therapy.

  4. Metabolic Syndrome Components After Pediatric Liver Transplantation: Prevalence and the Impact of Obesity and Immunosuppression.

    Science.gov (United States)

    Perito, E R; Lustig, R H; Rosenthal, P

    2016-06-01

    Metabolic syndrome is associated with long-term morbidity and mortality after adult liver transplantation (LT). Whether pediatric LT recipients have a higher prevalence of metabolic syndrome remains controversial. In a cross-sectional study, we evaluated pediatric LT recipients aged 8-30 years using National Health and Nutrition Examination Survey (NHANES) protocols. LT recipients were matched by gender, race/ethnicity, and age with controls from NHANES. Pediatric LT recipients (n = 83), after adjusting for overweight/obesity and glucocorticoid use, had increased prevalence of prehypertension and hypertension, impaired glucose tolerance (IGT; 2-h glucose after oral glucose tolerance test ≥140 mg/dL), and low high-density lipoprotein compared to matched NHANES controls (n = 235) despite a lower prevalence of overweight/obesity. Among LT recipients, the adjusted odds of IGT doubled for every 7.5 years taking calcineurin inhibitors (odds ratio = 2.10, 95% confidence interval 1.06-4.17 per 7.5 years taking calcineurin inhibitors, p = 0.03). Among all subjects with IGT, LT recipients had a lower prevalence of overweight/obesity and less insulin resistance (homeostatic model assessment of insulin resistance) than did controls with IGT. Among normal weight subjects, LT recipients were significantly more likely than controls to have prehypertension/hypertension, IGT, low high-density lipoprotein, and metabolic syndrome. Pediatric LT recipients have unique metabolic syndrome profiles and risk factors and will require tailored screening and management protocols. © Copyright 2016 The American Society of Transplantation and the American Society of Transplant Surgeons.

  5. [Anesthesia for a pediatric patient with Coffin-Siris syndrome].

    Science.gov (United States)

    Shirakami, Gotaro; Tazuke-Nishimura, Misako; Hirakata, Hideo; Fukuda, Kazuhiko

    2005-01-01

    A 3-year-old boy with Coffin-Siris syndrome was scheduled to undergo diagnostic laparoscopy, inguinal herniorrhaphy and orchiopexy at an ambulatory setting and same-day admission. Following anesthesia induction with inhalational sevoflurane, upper airway obstruction and hypoxemia developed. Hypoxemia was resolved immediately by manual positive pressure ventilation, although the stomach became bulged. Operation was finished uneventfully. However, he had massive bronchial secretion during anesthesia. He was admitted as planned and discharged on postoperative day 2. Since patients with Coffin-Siris syndrome have potential airway and pulmonary dysfunctions, careful perianesthesia airway and respiratory managements are essential.

  6. Consensus paper on post-operative pediatric cerebellar mutism syndrome

    DEFF Research Database (Denmark)

    Gudrunardottir, Thora; Morgan, Angela T; Lux, Andrew L

    2016-01-01

    -operative pediatric CMS" was formed, preliminary recommendations for diagnostic and follow-up procedures were created, two working groups on a new scoring scale and risk prediction and prevention were established, and areas were identified where further information is needed. DISCUSSION: The consensus process...... to provide a more solid foundation for future clinical and research work. It is thought as a consensus for moving forward and hopefully paves the way to developing a standard approach to this challenging problem with the advent of better scoring methods and ultimate goal of reducing the risk of CMS....

  7. The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum.

    Directory of Open Access Journals (Sweden)

    Jan Kassubek

    Full Text Available BACKGROUND: Xeroderma pigmentosum (XP is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. METHODOLOGY/PRINCIPAL FINDINGS: We present the clinical neurological phenotype in 14 XP patients (seven subtypes, in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy ((1H MRS, and diffusion tensor imaging (DTI. Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, (1H MRS demonstrated that the hippocampal formation was metabolically altered. CONCLUSIONS: The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients.

  8. Zika Virus-Associated Neurological Disease in the Adult: Guillain-Barré Syndrome, Encephalitis, and Myelitis.

    Science.gov (United States)

    Muñoz, Laura S; Barreras, Paula; Pardo, Carlos A

    2016-09-01

    Zika virus (ZIKV) has caused a major infection outbreak in the Americas since 2015. In parallel with the ZIKV epidemic, an increase in cases of neurological disorders which include Guillain-Barré syndrome (GBS), encephalitis, and myelitis have been linked to the infection. We reviewed the evidence suggesting a relationship between ZIKV and neurological disorders in adults. A search of the literature supporting such link included databases such as PubMed and the World Health Organization (WHO) surveillance system. Through June 1, 2016, 761 publications were available on PubMed using the search word "Zika." Among those publications as well as surveillance reports released by the WHO and other health organizations, 20 articles linked ZIKV with neurological complications other than microcephaly. They corresponded to population and surveillance studies ( n  = 7), case reports ( n  = 9), case series ( n  = 3), and case-control studies ( n  = 1). Articles were also included if they provided information related to possible mechanisms of ZIKV neuropathogenesis. Evidence based on epidemiological and virological information supports the hypothesis that ZIKV infection is associated with GBS. Although cases of encephalopathy and myelitis have also been linked to ZIKV infection, the evidence is scarce and there is a need for virological, epidemiological, and controlled studies to better characterize such relationship. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  9. Trends in standard workup performed by pediatric subspecialists for the diagnosis of adolescent polycystic ovary syndrome.

    Science.gov (United States)

    Powers, Sarah E; Uliassi, Nicole W; Sullivan, Shannon D; Tuchman, Lisa K; Mehra, Rinku; Gomez-Lobo, Veronica

    2015-02-01

    The purpose of this study is to identify trends in the clinical workup, diagnosis, and treatment of polycystic ovary syndrome by pediatric endocrinologists, pediatric gynecologists, and adolescent medicine specialists. Retrospective chart review. Tertiary care medical center. Females aged 11-18 y who were evaluated for PCOS from June 2009 to October 2011 were included. Any patients with coexisting diagnoses of other primary etiology for amenorrhea were excluded. Patients were identified by ICD-9 codes for PCOS, hypersecretion of ovarian androgens, irregular menses, hirsutism, oligomenorrhea, or amenorrhea. 261 patients were included: 144 from endocrinology, 9 from gynecology, and 108 from adolescent pediatric practices. There were no significant differences in the androgen labs ordered by the subspecialties. Gynecologists ordered pelvic ultrasonography for 89% (n = 8) of patients, compared to 9% (n = 10) by adolescent medicine specialists and 24% (n = 34) by endocrinologists (P PCOS with metformin (58%, n = 66), compared to gynecologists (14%, n = 1) and adolescent medicine specialists (5%, n = 3) (P PCOS are evident among pediatric subspecialties, reflecting lack of standardized care for adolescents. Quantifying outcomes based on diagnostic and therapeutic approaches are important next steps. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  10. Clinical insights on Tolosa Hunt syndrome: A multidisciplinary approach on neurological-related symptomatology in maxillofacial region

    Directory of Open Access Journals (Sweden)

    Zafar Ali Khan

    2018-02-01

    Full Text Available Background Tolosa–Hunt syndrome (THS related neurological symptoms are described in literature as “unilateral”, “recurrent”, “episodic”, “intense”, “severe”, “lancinating” or “stabbing” pain on the upper face and forehead and may be misdiagnosed due to the similarity of few symptoms and a significant number of common characteristics between both conditions. Aims The aim of this brief report is to indicate some important clinical insights related to Tolosa Hunt syndrome, and to give a frank account on the multidisciplinary approach on neurological-related symptomatology in maxillofacial region. Methods We analysed a selection of patients with such clinical picture. To better describe the proper management of clinical cases, we report a 50-year-old female reporting an history of two years of recurrent, severe stabbing pain around the right eye, prominence of her cheek and forehead. Her general dentist first mistakenly diagnosed toothache and, thus, it was subsequently misdiagnosed the trigeminal neuropathy (TN. Results Reported exemplificative case presented a mild ptosis, diplopia of the right eye, corneal reflex loss, paresthesia and hyperesthesia of upper part of left side of face. Magnetic resonance imaging (MRI findings were suggestive of THS. Complete resolution of symptoms was achieved with oral Prednisolone and constant monitoring of symptoms. Conclusion THS may be added to the long list of differential diagnosis of TN and general dentist and oral surgeons should be informed about such rare causes of facial pain through continued medical education programs.

  11. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

    Science.gov (United States)

    Keel, Siobán B.; Scott, Angela; Sanchez-Bonilla, Marilyn; Ho, Phoenix A.; Gulsuner, Suleyman; Pritchard, Colin C.; Abkowitz, Janis L.; King, Mary-Claire; Walsh, Tom; Shimamura, Akiko

    2016-01-01

    The clinical and histopathological distinctions between inherited versus acquired bone marrow failure and myelodysplastic syndromes are challenging. The identification of inherited bone marrow failure/myelodysplastic syndromes is critical to inform appropriate clinical management. To investigate whether a subset of pediatric and young adults undergoing transplant for aplastic anemia or myelodysplastic syndrome have germline mutations in bone marrow failure/myelodysplastic syndrome genes, we performed a targeted genetic screen of samples obtained between 1990–2012 from children and young adults with aplastic anemia or myelodysplastic syndrome transplanted at the Fred Hutchinson Cancer Research Center. Mutations in inherited bone marrow failure/myelodysplastic syndrome genes were found in 5.1% (5/98) of aplastic anemia patients and 13.6% (15/110) of myelodysplastic syndrome patients. While the majority of mutations were constitutional, a RUNX1 mutation present in the peripheral blood at a 51% variant allele fraction was confirmed to be somatically acquired in one myelodysplastic syndrome patient. This highlights the importance of distinguishing germline versus somatic mutations by sequencing DNA from a second tissue or from parents. Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort. Family history or physical examination failed to reliably predict the presence of germline mutations. This study shows that while any single specific bone marrow failure/myelodysplastic syndrome genetic disorder is rare, screening for these disorders in aggregate identifies a significant subset of patients with inherited bone marrow failure/myelodysplastic syndrome. PMID:27418648

  12. Presenting Symptoms in Pediatric Restless Legs Syndrome Patients

    NARCIS (Netherlands)

    de Weerd, Al; Arico, Irene; Silvestri, Rosalia

    2013-01-01

    Objective: The diagnosis restless legs syndrome (RLS) in children depends on the history told by the child and his parents. The description of symptoms given by the child him or herself is most important. Additional criteria are, among others, the results of polysomnography (PSG). Description of the

  13. Scalp Lesions in a Pediatric Patient with Hyper IgM Syndrome: Clinical and Histologic Mimicry of Cryptococcus neoformans Infection.

    Science.gov (United States)

    Acker, Karen P; Fetch, Audrey; Schnell, Stephanie A; Hammond, Jennifer; Herrera, Christina; Niedt, George; Ratner, Adam J; Lauren, Christine T

    2018-01-01

    We report a case of cutaneous cryptococcosis due to Cryptococcus neoformans in a pediatric patient with hyper IgM syndrome with scalp lesions that resembled tinea capitis on gross examination and mimicked juvenile xanthogranuloma on histologic examination. This case highlights the importance of considering cutaneous cryptococcosis in patients with hyper IgM syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Detection of occult cancer with [18F]-FDG scintigraphy in case of limbic encephalitis, a rare neurologic para neoplastic syndrome

    International Nuclear Information System (INIS)

    Kerrou, K.; Aide, N.; Montravers, F.; Grahek, D.; Younsi-Pourtau, N.; Petegnief, Y.; Colombet-Lamau, C.; Beco, V. de; Talbot, J.N.

    2003-01-01

    Limbic encephalitis is a rare neurologic para-neoplastic syndrome due to the production of anti-neuronal antibodies induced by the presence of a malignant tumour, most frequently a small cell lung cancer: The discovery and the resection of the malignant tissue allows a stabilisation of the neurological syndrome, a complete recovery being impossible when irreversible lesions are present. ( 18 F)-FDG PET may play a determinant role when the cancer is still occult after conventional imaging work-up. We report here on a such patient with evolving limbic encephalitis and no detectable cancer with conventional imaging modalities. ( 18 F)-FDG CDET successfully localised neoplastic small cell lung cancer tissue in the lung. The malignant tumour was not even detectable at surgery and was only confirmed at post surgical histology exactly exactly where it has been spotted by CDET. After surgery, the neurologic syndrome is now steady. (authors)

  15. [Case report : usefulness of the airwayscope for difficult intubations in a pediatric patients with Coffin-Siris syndrome].

    Science.gov (United States)

    Sakugawa, Yoko; Kamizato, Kota; Miyata, Yuji; Kakinohana, Manabu; Sugahara, Kazuhiro

    2013-05-01

    We experienced management of general anesthesia in a patients with Coffin-Siris syndrome (CS syndrome) which is an autosomal dominant disorder characterized by mental retardation, growth failure, hypoplasia of the fifth finger's distal phalanx and limb, and syndrome-specific facial appearance. Anesthesia was induced by sevoflurane by mask. After obtaining muscle relaxation by rocuronium, laryngoscopy by Machintosh #2 failed to reveal the vocal cord. However, the vocal cord was revealed by AirwayScope (AWS) for the pediatrics and then tracheal intubation was successful. Surgical procedures and anes-thetic management were performed uneventfully. This case demonstrates usefulness of AWS in pediatric patients with difficult intubation.

  16. Anesthesia in a pediatric patient with ROHADD syndrome.

    Science.gov (United States)

    Esparza Isasa, E; Palomero Rodríguez, M A; Acebedo Bambaren, I; Medrano Viñas, C; Gil Mayo, D; Domínguez Pérez, F; Pestaña Lagunas, D

    2018-05-01

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare entity that is characterised by its onset in healthy children at 2-4 years of age. It is a complex syndrome that includes, among other symptoms, rapid weight gain with hyperphagia, hypothalamic dysfunction, central hypoventilation, and autonomic dysregulation. The case is presented of a 10-year-old boy with a diagnosis of ROHHAD syndrome undergoing insertion of a port-a-cath under general anaesthesia, who developed complications during the anaesthetic procedure related to his illness. The peri-operative management of these patients represents a challenge for the anaesthetist, given the involvement of multiple systems and the frequent respiratory comorbidities associated with them. A summary is presented of some of the implications and anaesthetic considerations that must be taken into account in the management of these patients. Copyright © 2018 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette syndrome

    OpenAIRE

    Yoko eNagai

    2015-01-01

    This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of e...

  18. Early Detection and Treatment of Neuroblastic Tumor with Opsoclonus-Myoclonus Syndrome Improve Neurological Outcome: A Review of Five Cases at a Single Institution in Japan.

    Science.gov (United States)

    Takama, Yuichi; Yoneda, Akihiro; Nakamura, Tetsuro; Nakaoka, Tatsuo; Higashio, Atsushi; Santo, Kenji; Kuki, Ichiro; Kawawaki, Hisashi; Tomiwa, Kiyotaka; Hara, Junichi

    2016-02-01

    Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder associated with neuroblastic tumor (NT) in childhood. Half of patients have neurological sequelae after the neurological and oncological treatment. We reviewed the neurological and oncological outcomes of NT with OMS, and discussed whether the treatment of NT would contribute to improving the neurological prognosis. We retrospectively assessed NT patients with OMS from January 2001 to December 2013 at a single institution in Japan. Demographic data, neurological and oncological status, histopathology, treatments, prognosis, and diagnosis and treatment timing were retrospectively reviewed from the records. The timings assessed were the interval between OMS onset and NT detection, initial NT therapy, and initial OMS therapy, the interval between NT therapy and OMS remission, and duration of OMS. A total of 73 patients with NT were treated during the study period, and 5 of 73 patients were diagnosed as having NT with OMS. The median age at onset of OMS was 22 months (range, 18-30 months). The median age at detection of NT was 29 months (range, 21-33 months). Three of five cases showed no uptake on meta-iodobenzylguanidine scintigraphy. The tumor histopathology was neuroblastoma in two patients, ganglioneuroblastoma in two patients, and ganglioneuroma in one patient. Primary resection was performed in three cases. All patients survived. Two of five cases presented with atypical neurological symptoms without opsoclonus. The initial neurological therapy was started within a mean of 20 days (range, 3-76 days) from the onset of OMS in all cases. Four patients received intravenous immunoglobulin, and one with persistent neurological problems received rituximab. Neurological symptoms resolved in three cases. The mean interval between the onset of OMS and the detection of NT in case without neurological sequelae was 57 days (range, 25-113 days), while in case with neurological sequelae it was 365

  19. Pediatrics

    Science.gov (United States)

    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.

  20. Pediatrics

    NARCIS (Netherlands)

    Rasheed, Shabana; Teo, Harvey James Eu Leong; Littooij, Annemieke Simone

    2015-01-01

    Imaging of pediatric patients involves many diverse modalities, including radiography, ultrasound imaging, computed tomography, magnetic resonance imaging, and scintigraphic and angiographic studies. It is therefore important to be aware of potential pitfalls that may be related to these modalities

  1. Psychometric evaluation of the pediatric and parent-proxy Patient-Reported Outcomes Measurement Information System and the Neurology and Traumatic Brain Injury Quality of Life measurement item banks in pediatric traumatic brain injury.

    Science.gov (United States)

    Bertisch, Hilary; Rivara, Frederick P; Kisala, Pamela A; Wang, Jin; Yeates, Keith Owen; Durbin, Dennis; Zonfrillo, Mark R; Bell, Michael J; Temkin, Nancy; Tulsky, David S

    2017-07-01

    The primary objective is to provide evidence of convergent and discriminant validity for the pediatric and parent-proxy versions of the Patient-Reported Outcomes Measurement Information System (PROMIS) Anxiety, Depression, Anger, Peer Relations, Mobility, Pain Interference, and Fatigue item banks, the Neurology Quality of Life measurement system (Neuro-QOL) Cognition-General Concerns and Stigma item banks, and the Traumatic Brain Injury Quality of Life (TBI-QOL) Executive Function and Headache item banks in a pediatric traumatic brain injury (TBI) sample. Participants were 134 parent-child (ages 8-18 years) days. Children all sustained TBI and the dyads completed outcome ratings 6 months after injury at one of six medical centers across the United States. Ratings included PROMIS, Neuro-QOL, and TBI-QOL item banks, as well as the Pediatric Quality of Life inventory (PedsQL), the Health Behavior Inventory (HBI), and the Strengths and Difficulties Questionnaire (SDQ) as legacy criterion measures against which these item banks were validated. The PROMIS, Neuro-QOL, and TBI-QOL item banks demonstrated good convergent validity, as evidenced by moderate to strong correlations with comparable scales on the legacy measures. PROMIS, Neuro-QOL, and TBI-QOL item banks showed weaker correlations with ratings of unrelated constructs on legacy measures, providing evidence of discriminant validity. Our results indicate that the constructs measured by the PROMIS, Neuro-QOL, and TBI-QOL item banks are valid in our pediatric TBI sample and that it is appropriate to use these standardized scores for our primary study analyses.

  2. Use of Hemadsorption in a Case of Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Andrea Berkes

    2017-01-01

    Full Text Available Background. Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. Case Presentation. A 5-year-old girl with Down’s syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure. As previous attempts of immune modulation therapy were unsuccessful, renal replacement therapy was supplemented by the cytokine absorber CytoSorb. Treatment using this combination was associated with a rapid and significant stabilization in the hemodynamic situation and a decrease in inflammatory mediators within hours after the initiation of therapy. The application of CytoSorb therapy was simple and safe. Conclusion. The use of extracorporeal blood purification with CytoSorb proved potentially beneficial by removing toxins and inflammatory mediators in this case and could therefore play a role in the clinical management of toxic shock syndrome. Whether CytoSorb has the potential to even positively influence mortality in patients with toxic shock syndrome still needs to be confirmed.

  3. Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome.

    Science.gov (United States)

    Savic, Ivanka

    2012-04-01

    Klinefelter syndrome, 47,XXY is the most common chromosomal aberration among men. It represents a naturally occurring human model for studies of both X-chromosome gene expression and potential androgen effects on brain development and function. The aim of this review is to combine available brain imaging and behavioral data to provide an overview of what we have learned about the neural underpinnings of cognitive, emotional and behavioral dysunctions in Klinefelter syndrome. The behavioral phenotype of 47,XXY is characterized by language, executive and psychomotor dysfunction, as well as socioemotional impairment. The prevalence of schizophrenia, attention deficit hyperactivity disorder, autism spectrum disorders and affective regulation problems is increased. Neuroimaging studies of children and adults with Klinefelter syndrome syndrome show characteristic structural changes from typical individuals. There are increases in the grey matter volume of the sensorimotor and parietooccipital regions, as well as significant reductions in amygdala, hippocampal, insular, temporal and inferior-frontal grey matter volumes. Widespread white matter abnormalities have been revealed, with reductions in some areas (including anterior cingulate, bilaterally) but increases in others (such as left parietal lobe). Mechanisms underlying these developmental anomalies could include imbalance in gene dosage relative to typical men or women, as well as the potential consequence of endocrinological deficits. Studies of Klinefelter syndrome could generate important information about the impact of anomalies in sex chromosome gene regulation on the development of cerebral grey and white matter and, ultimately, on human behavior.

  4. Diagnosis and Treatment of Polycystic Ovary Syndrome in Pediatric Gynaecology

    Directory of Open Access Journals (Sweden)

    М.Yu. Serhiienko

    2015-03-01

    Full Text Available Diagnosis of polycystic ovary syndrome (PCOS in adolescence still raises many questions. The problem is that the characteristics of normal puberty often coincide with PCOS symptoms, so a number of researchers suggest to apply more stringent requirements to diagnosing. We use a cautious approach to a final diagnosis of PCOS because of its interpretation as a global problem of somatic health — endocrine and metabolic status, cardiovascular and oncogenic risk. In addition, one of the main therapies for PCOS is application of combined oral contraceptives, which are undesirable to use in adolescent girls with oligo- and amenorrhea without careful examination and use of all the abilities of vitamine therapy, phytotherapy and gestagens.

  5. CNS imaging findings associated with Parry-Romberg syndrome and en coup de sabre: correlation to dermatologic and neurologic abnormalities.

    Science.gov (United States)

    Doolittle, Derrick A; Lehman, Vance T; Schwartz, Kara M; Wong-Kisiel, Lily C; Lehman, Julia S; Tollefson, Megha M

    2015-01-01

    Parry-Romberg syndrome (PRS) and en coup de sabre (ECS) are variants of morphea. Although numerous findings on central nervous system (CNS) imaging of PRS and ECS have been reported, the spectrum and frequency of CNS imaging findings and relation to cutaneous and neurologic abnormalities have not been fully characterized. We retrospectively reviewed patients younger than 50 years at our institution over a 16-year interval who had clinical diagnosis of PRS and ECS by a skin or facial subspecialist. Two neuroradiologists evaluated available imaging and characterized CNS imaging findings. Eighty-eight patients with PRS or ECS were identified (62 women [70.4 %]; mean age 28.8 years). Of the 43 patients with CNS imaging, 19 (44 %) had abnormal findings. The only finding in 1 of these 19 patients was lateral ventricle asymmetry; of the other 18, findings were bilateral in 11 (61 %), ipsilateral to the side of facial involvement in 6 (33 %), and contralateral in 1 (6 %). Sixteen patients had serial imaging examinations over an average of 632 days; 13 (81 %) had stable imaging findings, and 3 (19 %) had change over time. Of six patients with progressive cutaneous findings, five (83 %) had stable imaging findings over time. Among the 23 patients with clinical neurologic abnormality and imaging, 12 (52 %) had abnormal imaging findings. All seven patients with seizures (100 %) had abnormal imaging studies. In PRS and ECS, imaging findings often are bilateral and often do not progress, regardless of cutaneous disease activity. Findings are inconsistently associated with clinical abnormalities.

  6. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).

    Science.gov (United States)

    Kuemmerle-Deschner, Jasmin B; Ramos, Eduardo; Blank, Norbert; Roesler, Joachim; Felix, Sandra D; Jung, Thomas; Stricker, Kirstin; Chakraborty, Abhijit; Tannenbaum, Stacey; Wright, Andrew M; Rordorf, Christiane

    2011-02-28

    Cryopyrin-associated periodic syndrome (CAPS) represents a spectrum of three auto-inflammatory syndromes, familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome (NOMID/CINCA) with etiology linked to mutations in the NLRP3 gene resulting in elevated interleukin-1β (IL-1β) release. CAPS is a rare hereditary auto-inflammatory disease, which may start early in childhood and requires a life-long treatment. Canakinumab, a fully human anti-IL-1β antibody, produces sustained selective inhibition of IL-1β. This study was conducted to assess the efficacy, safety, and pharmacokinetics of canakinumab in the treatment of pediatric CAPS patients. Seven pediatric patients (five children and two adolescents) with CAPS were enrolled in a phase II, open-label study of canakinumab in patients with CAPS. Canakinumab was administered at a dose of 2 mg/kg subcutaneously (s.c.) (for patients with body weight ≤ 40 kg) or 150 mg s.c. (for patients with body weight > 40 kg) with re-dosing upon each relapse. The primary efficacy variable was time to relapse following achievement of a complete response (defined as a global assessment of no or minimal disease activity and no or minimal rash and values for serum C-reactive protein (CRP) and/or serum amyloid A (SAA) within the normal range, CAPS. ClinicalTrials.gov: NCT00487708.

  7. Pediatric epilepsy: The Indian experience.

    Science.gov (United States)

    Gadgil, Pradnya; Udani, Vrajesh

    2011-10-01

    Epilepsy is a common clinical entity in neurology clinics. The understanding of the genetics of epilepsy has undergone a sea change prompting re-classification by the International league against epilepsy recently. The prevalence rates of epilepsy in India are similar to those of developed nations. However, the large treatment gap is a major challenge to our public health system. Perinatal injuries are a major causative factor in pediatric group. We have discussed a few common etiologies such as neurocysticercosis and newer genetic epilepsy syndromes. We have also briefly touched upon the Indian experience in pediatric epilepsy surgery.

  8. Anterior subcutaneous transposition of the ulnar nerve improves neurological function in patients with cubital tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Wei Huang

    2015-01-01

    Full Text Available Although several surgical procedures exist for treating cubital tunnel syndrome, the best surgical option remains controversial. To evaluate the efficacy of anterior subcutaneous transposition of the ulnar nerve in patients with moderate to severe cubital tunnel syndrome and to analyze prognostic factors, we retrospectively reviewed 62 patients (65 elbows diagnosed with cubital tunnel syndrome who underwent anterior subcutaneous transposition. Preoperatively, the initial severity of the disease was evaluated using the McGowan scale as modified by Goldberg: 18 patients (28% had grade IIA neuropathy, 20 (31% had grade IIB, and 27 (42% had grade III. Postoperatively, according to the Wilson & Krout criteria, treatment outcomes were excellent in 38 patients (58%, good in 16 (25%, fair in 7 (11%, and poor in 4 (6%, with an excellent and good rate of 83%. A negative correlation was found between the preoperative McGowan grade and the postoperative Wilson & Krout score. The patients having fair and poor treatment outcomes had more advanced age, lower nerve conduction velocity, and lower action potential amplitude compared with those having excellent and good treatment outcomes. These results suggest that anterior subcutaneous transposition of the ulnar nerve is effective and safe for the treatment of moderate to severe cubital tunnel syndrome, and initial severity, advancing age, and electrophysiological parameters can affect treatment outcome.

  9. Síndromes autoinflamatórias hereditárias na faixa etária pediátrica Pediatric hereditary autoinflammatory syndromes

    Directory of Open Access Journals (Sweden)

    Adriana Almeida Jesus

    2010-10-01

    from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. SUMMARY OF THE FINDINGS: The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. CONCLUSIONS: Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.

  10. Coordinated Pediatric and Periodontal Dental Care of a Child with Down syndrome.

    Science.gov (United States)

    Byrd, Gentry; Quinonez, Rocio B; Offenbacher, Steven; Keels, Martha Ann; Guthmiller, Janet M

    2015-01-01

    The purpose of this report was to describe the management of an eight-year-old Bulgarian male with Down syndrome presenting with periodontitis as a manifestation of systemic disease in the early mixed dentition. Treatment involved full-mouth mechanical debridement and extraction of hopeless teeth under general anesthesia followed by systemic antibiotics and chemical adjunctive therapy. Microbial culture and sensitivity testing aided in diagnosis and guided treatment decisions. This case report demonstrates a multidisciplinary approach in the management of aggressive periodontal disease in an internationally adopted pediatric patient with special health care needs.

  11. Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome Associated With Anti-N-methyl-D-aspartate Receptor Encephalitis.

    Science.gov (United States)

    Player, Brittany; Harmelink, Matthew; Bordini, Brett; Weisgerber, Michael; Girolami, Michael; Croix, Michael

    2015-11-01

    The full clinical spectrum of anti-N-methyl-D-aspartate receptor encephalitis is unknown in the pediatric population. We describe a previously healthy 4-year-old girl presenting with opsoclonus-myoclonus together with ataxia who had NR1-specific, anti-N-methyl-D-aspartate receptor antibodies in the cerebral spinal fluid. The presence of NR1-specific, anti-N-methyl-D-aspartate receptor antibodies in the setting of opsoclonus-myoclonus and ataxia syndrome may represent an expansion of the clinical presentations of anti-N-methyl-D-aspartate receptor encephalitis. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. The pragmatics of feeding the pediatric patient with acute respiratory distress syndrome.

    Science.gov (United States)

    Verger, Judy T; Bradshaw, Darla J; Henry, Elizabeth; Roberts, Kathryn E

    2004-09-01

    Acute respiratory distress syndrome (ARDS) represents the ultimate pulmonary response to a wide range of injuries, from septicemia to trauma. Optimal nutrition is vital to enhancing oxygen delivery, supporting adequate cardiac contractility and respiratory musculature, eliminating fluid and electrolyte imbalances, and supporting the proinflammatory response. Research is providing a better understanding of nutrients that specifically address the complex physiologic changes in ARDS. This article highlights the pathophysiology of ARDS as it relates to nutrition, relevant nutritional assessment, and important enteral and parenteral considerations for the pediatric patient who has ARDS.

  13. Withdrawal syndrome associated with cessation of fentanyl and midazolam in pediatrics

    OpenAIRE

    Bicudo, J.n. [UNIFESP; Souza, N. de [UNIFESP; Mângia, C.m.f. [UNIFESP; Carvalho, Werther Brunow de [UNIFESP

    1999-01-01

    PURPOSE: To determine the incidence of abstinence syndrome in children interned in the Pediatric Intensive Care Unit (PICU) in fentanyl use and midazolam METHODS: Evaluation of 36 children interned in PICU of the Hospital São Paulo - Federal University of São Paulo, in the period from March to September 1997, with age varying from 5 days to 22 months (22 masc: 14 fem) who used fentanyl use and midazolam for more than 24 hours. Used the Escore Neonatal of Abstinence adapted by Finnegan determi...

  14. Anaesthesia for caesarean section in a patient with Sturge-Weber syndrome following acute neurological deterioration.

    LENUS (Irish Health Repository)

    Tadrous, R

    2011-07-01

    Sturge-Weber syndrome consists of facial capillary malformation (port-wine stain) and abnormal blood vessels in the brain or eye. Seizures, developmental delay and intracranial and airway angiomata are principal concerns. We report a 28-year-old primiparous woman at 41 weeks of gestation with Sturge-Weber syndrome who developed unilateral weakness, aphasia, blurred vision and confusion. Preeclampsia was excluded. Neuroimaging showed left sided cerebral oedema and a right parieto-occipital lesion, most likely an angioma. Caesarean section was planned to avoid the risk of angioma rupture during labour. General anesthesia was avoided due to the haemodynamic response to laryngoscopy and reports of seizure-related mortality. Despite the possibility of raised intracranial pressure and precipitation of cerebral herniation, a lumbar epidural block was administered but failed. A subarachnoid block was successfully performed and a healthy infant delivered. The choice of anaesthesia was strongly influenced by detailed radiological investigations and multidisciplinary participation.

  15. Anaesthesia for caesarean section in a patient with Sturge-Weber syndrome following acute neurological deterioration.

    LENUS (Irish Health Repository)

    Tadrous, R

    2012-02-01

    Sturge-Weber syndrome consists of facial capillary malformation (port-wine stain) and abnormal blood vessels in the brain or eye. Seizures, developmental delay and intracranial and airway angiomata are principal concerns. We report a 28-year-old primiparous woman at 41 weeks of gestation with Sturge-Weber syndrome who developed unilateral weakness, aphasia, blurred vision and confusion. Preeclampsia was excluded. Neuroimaging showed left sided cerebral oedema and a right parieto-occipital lesion, most likely an angioma. Caesarean section was planned to avoid the risk of angioma rupture during labour. General anesthesia was avoided due to the haemodynamic response to laryngoscopy and reports of seizure-related mortality. Despite the possibility of raised intracranial pressure and precipitation of cerebral herniation, a lumbar epidural block was administered but failed. A subarachnoid block was successfully performed and a healthy infant delivered. The choice of anaesthesia was strongly influenced by detailed radiological investigations and multidisciplinary participation.

  16. Pediatric catastrophic antiphospholipid syndrome: descriptive analysis of 45 patients from the "CAPS Registry".

    Science.gov (United States)

    Berman, Horacio; Rodríguez-Pintó, Ignasi; Cervera, Ricard; Gregory, Simone; de Meis, Ernesto; Rodrigues, Carlos Ewerton Maia; Aikawa, Nádia Emi; de Carvalho, Jozélio Freire; Springer, Janusz; Niedzwiecki, Maciej; Espinosa, Gerard

    2014-02-01

    Given the lack of information about catastrophic antiphospholipid syndrome (APS) in pediatric patients, the objective of the current study was to describe the clinical characteristics, laboratory features, treatment, and outcome of pediatric patients with catastrophic APS and compare them with the adult patients with catastrophic APS. We identified patients who were under 18years of age at time of catastrophic APS diagnosis included in the international registry of patients with catastrophic APS (CAPS Registry). Their main demographic and clinical characteristics, laboratory features, treatment, and outcome were described and compared with those of adult patients with catastrophic APS. From the 446 patients included in the CAPS Registry as of May 2013, 45 (10.3%) patients developed 46 catastrophic events before 18years of age (one patient presented two episodes). Overall, 32 (71.1%) patients were female and the mean age was 11.5±4.6years (range, 3months-18years). A total of 31 (68.9%) patients suffered from primary APS and 13 (28.9%) from systemic lupus erythematosus (SLE). The main differences between the two groups of patients were the higher prevalence of infections as precipitating factor for catastrophic event in the pediatric population (60.9% versus 26.8% in the adult population, p<0.001) and of peripheral vessel thrombosis (52.2% versus 34.3%, p=0.017). In addition, catastrophic APS was the first manifestation of APS more frequently in pediatric patients (86.6% versus 45.2%, p<0.001). Interestingly, pediatric patients showed a trend of lower mortality, although the difference was not statistically significant (26.1% versus 40.2%; odds ratio, 1.9; 95% confidence interval, 0.96-3.79; p=0.063). No differences were found neither in the laboratory features nor in the isolated or combination treatments between groups. Catastrophic APS in pediatric patients is a rare disease. There are minimal differences in the clinical and laboratory features, treatment, and

  17. [Prevalence of burnout syndrome in health professionals of an onco-hematological pediatric hospital].

    Science.gov (United States)

    Zanatta, Aline Bedin; Lucca, Sergio Roberto de

    2015-04-01

    To identify the prevalence of Burnout Syndrome in medical professionals, nurses and nursing technicians working in an Onco-Hematological Pediatric Hospital in São Paulo. An exploratory, descriptive study with cross-sectional design and quantitative approach, with a sample of 188 health professionals. Data were collected using two self-report instruments: the Maslach Burnout Inventory (MBI-HSS) which is a biosocial data form, and a non-participant observation guide. High depersonalization for nurses (29.8%), low job performance for physicians (27.8%), and of nursing technicians (25.5%). High scores were identified in at least two domains of Burnout in 19.2% of nurses, 16.8% of nursing technicians, and 16.6% of doctors. Health professionals are highly vulnerable to each of the dimensions of Burnout syndrome - namely emotional exhaustion, alienation, and low job performance/satisfaction- in the hospital work.

  18. Prevalence of Burnout syndrome in health professionals of an onco-hematological pediatric hospital

    Directory of Open Access Journals (Sweden)

    Aline Bedin Zanatta

    2015-04-01

    Full Text Available OBJECTIVE To identify the prevalence of Burnout Syndrome in medical professionals, nurses and nursing technicians working in an Onco-Hematological Pediatric Hospital in São Paulo. METHOD An exploratory, descriptive study with cross-sectional design and quantitative approach, with a sample of 188 health professionals. Data were collected using two self-report instruments: the Maslach Burnout Inventory (MBI-HSS which is a biosocial data form, and a non-participant observation guide. RESULTS High depersonalization for nurses (29.8%, low job performance for physicians (27.8%, and of nursing technicians (25.5%. High scores were identified in at least two domains of Burnout in 19.2% of nurses, 16.8% of nursing technicians, and 16.6% of doctors. CONCLUSION Health professionals are highly vulnerable to each of the dimensions of Burnout syndrome - namely emotional exhaustion, alienation, and low job performance/satisfaction- in the hospital work.

  19. Risk factors for low bone density in pediatric nephrotic syndrome

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    Corina Lisa

    2011-04-01

    Full Text Available Background Disturbances in bone mineral metabolism and side effects of corticosteroid treatment may cause decreased bone density in patients v.ith nephrotic syndrome (NS. Objectives To compare the prevalence oflow bone mineral density (BMD in children with and 'Without NS and to assess the effect of corticosteroid treatment on bone density in NS patients.  Methods We conducted a retrospective, cohort study in children aged 5-18 years diagnosed 'With NS for more than 2 months prior to data collection, and in children v.ithout NS as a control. BMD was assessed on calcaneal bone wlith ultrasound bone densitometry. Serum calcium, albumin, creatinine and phosphate levels were also assessed. Results The prevalence of low BMD was significantly higher in NS patients than nonNS subjects, 73.3% (22 in 30 vs. 33% (11 in 33, respectively. The prevalence ratio was 6.3 (95% CI 2.1 to 18.9. NS patients had lower serum calcium levels, With mean difference of -0.17 (95% CI -0.27 to -0.07 mMollL, P<0.009, and lower serum albumin, with mean difference of  -0.88 (95% CI -1.27 to -0.49 gIL; P

  20. Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.

    Science.gov (United States)

    Caffarelli, Carlo; Santamaria, Francesca; Di Mauro, Dora; Mastrorilli, Carla; Mirra, Virginia; Bernasconi, Sergio

    2016-08-27

    This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature. Epidemiological studies have evidenced the high incidence of Graves' disease and Hashimoto's thyroiditis in patients with Down syndrome. Documentation of novel risk factors for celiac disease are of use to develop strategies for prevention in the population at-risk. Diagnostic criteria for non-celiac gluten sensitivity have been reported. Negative effect on nervous system development of the supernumerary X chromosome in Klinefelter syndrome has emerged. Improvements have been made in understanding rare diseases such as Rubinstein-Taybi syndrome. Eltrombopag is an effective therapy for immune trombocytopenia. Children with sickle-cell anemia are at risk for nocturnal enuresis. Invasive diseases caused by Streptococcus pyogenes are still common despite of vaccination. No difference in frequency of antibiotic prescriptions for acute otitis media between before the publication of the national guideline and after has been found. The importance of timing of iron administration in low birth weight infants, the effect of probiotics for preventing necrotising enterocolitis and perspectives for managing jaundice and cholestasis in neonates have been highlighted. New strategies have been developed to reduce the risk for relapse in nephrotic syndrome including prednisolone during upper respiratory infection. Insights into the pathophysiology of cerebral palsy, arterial ischemic stroke and acute encephalitis

  1. Dental Management of a Pediatric Patient with Moyamoya Syndrome: A Rare Clinical Entity.

    Science.gov (United States)

    Ko, Brittany L; Unkel, John H

    2018-01-01

    Moyamoya disease (MMD) is a rare cerebrovascular disorder involving progressive constriction of the internal carotid artery and its branches. The disease has a particularly aggressive course in very young patients, and early surgical intervention is often necessary to prevent permanent neurological damage. MMD patients have an increased risk of stroke development, which may be provoked by pain or anxiety. Currently, no reports of pediatric patients with MMD exist in the dental literature. The purpose of this paper was to discuss the dental management of a two-year-old with moyamoya disease who presented with early childhood caries and dental fear, offering recommendations for dental providers with emphasis on stroke prevention, collaboration with the medical team, anesthesia considerations for patients with increased stroke risk, and the challenges to maintain the oral health of a patient undergoing complex medical treatment.

  2. Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School.

    Science.gov (United States)

    Mammas, Ioannis N; Spandidos, Demetrios A

    2018-04-01

    According to Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School and Director of the Spinal Muscular Atrophy (SMA) Program at Boston Children's Hospital in Boston (MA, USA), the diagnosis of SMA type I is clinical and is based on detailed general physical and neurological examinations. SMA type I remains the most common genetic disease resulting in death in infancy and is really devastating for the child, the parents, as well as the medical professionals with the privilege of caring for patients with SMA and their parents. The proposed management options include: i) no respiratory support; ii) non-invasive ventilation; and iii) tracheotomy with mechanical ventilation. Deciding, which option is the best, is indeed a very personal decision. The optimal clinical care should be extremely mindful of parents' wishes and management goals with regard to the quality of life. Since the end of 2016 in the USA, and recently in Europe, there exists the possibility of accessing a novel treatment drug for SMA, namely Nusinersen. This antisense oligonucleotide is administered intrathecally and increases the production of the fully functional SMN protein, thus improving motor function, the quality of life and survival. Among the ongoing clinical trials, oral treatment with RG7916, a small molecule SMN2 splicing modifier, appears to be really promising. Gene therapy using viral vectors is expected to offer an 'one and done' therapy and possibly a cure, if administered early in life, before any symptoms appear. It is really interesting that viruses, which at the moment are the cause of death of children with SMA, if genetically modified, may be used for their treatment.

  3. Calcium and Vitamin D Metabolism in Pediatric Nephrotic Syndrome; An Update on the Existing Literature

    Directory of Open Access Journals (Sweden)

    Mohammad Esmaeeili

    2015-03-01

    Full Text Available  Minimal Change Disease (MCD is the leading cause of childhood Nephrotic Syndrome (NS. Therefore in pediatrics nephrotic syndrome, most children beyond the first year of life will be treated with corticosteroids without an initial biopsy. Children with NS often display a number of calcium homeostasis disturbances causing abnormal bone histology, including hypocalcemia, reduced serum vitamin D metabolites, impaired intestinal absorption of calcium, and elevated levels of immunoreactive parathyroid hormone (iPTH. These are mainly attributed to the loss of a variety of plasma proteins and minerals in the urine as well as steroid therapy. Early diagnosis and management of these abnormalities, could prevent the growth retardation and renal osteodystrophy that affects children with nephrotic syndrome. Here we reviewed the literature for changes of calcium and vitamin D metabolism in nephrotic syndrome and its consequences on bones, also the effect of corticosteroid and possible preventive strategies that could be done to avoid long term outcomes in children. Although the exact biochemical basis for Changes in levels of calcium and vitamin D metabolites in patients with NS remains speculative; Because of the potential adverse effects of these changes among growing children, widespread screening for vitamin D deficiency or routine vitamin D supplementation should be considered.

  4. Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.

    Science.gov (United States)

    Virgone, Calogero; Decker, Emily; Mitton, Sally G; Mansour, Sahar; Giuliani, Stefano

    2016-04-01

    Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of "fibromas and leiomyomas of other organs" in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS. © 2015 Japan Pediatric Society.

  5. Pediatric Chronic Abdominal Pain and Median Arcuate Ligament Syndrome: A Review and Psychosocial Comparison.

    Science.gov (United States)

    Mak, Grace Zee; Lucchetti, Amanda R; Drossos, Tina; Fitzsimmons-Craft, Ellen E; Accurso, Erin C; Stiles-Shields, Colleen; Newman, Erika A; Skelly, Christopher L

    2016-07-01

    Chronic abdominal pain (CAP) occurs in children and adolescents with a reported prevalence of 4% to 41% with significant direct and indirect costs to the child, family, and society. Median arcuate ligament syndrome (MALS) is a vascular compression syndrome of the celiac artery that may cause symptoms of epigastric pain and weight loss and is a frequently overlooked cause of CAP in the pediatric population. We have observed that the psychosocial presentation of patients with MALS is notable for various psychiatric comorbidities. In this article, we review MALS as well as our study results of the psychosocial profile of 30 MALS patients. Our data suggest that children and adolescents with MALS have similar psychosocial profiles to children with other gastrointestinal disorders resulting in CAP. The overlap of physical and psychosocial symptoms of patients who have MALS with other CAP disorders leads us to recommend that patients with CAP should be evaluated for MALS. [Pediatr Ann. 2016;45(7):e257-e264.]. Copyright 2016, SLACK Incorporated.

  6. Inhibitory actions of the gamma-aminobutyric acid in pediatric Sturge-Weber syndrome.

    Science.gov (United States)

    Tyzio, Roman; Khalilov, Ilgam; Represa, Alfonso; Crepel, Valerie; Zilberter, Yuri; Rheims, Sylvain; Aniksztejn, Laurent; Cossart, Rosa; Nardou, Romain; Mukhtarov, Marat; Minlebaev, Marat; Epsztein, Jérôme; Milh, Mathieu; Becq, Helene; Jorquera, Isabel; Bulteau, Christine; Fohlen, Martine; Oliver, Viviana; Dulac, Olivier; Dorfmüller, Georg; Delalande, Olivier; Ben-Ari, Yehezkel; Khazipov, Roustem

    2009-08-01

    The mechanisms of epileptogenesis in Sturge-Weber syndrome (SWS) are unknown. We explored the properties of neurons from human pediatric SWS cortex in vitro and tested in particular whether gamma-aminobutyric acid (GABA) excites neurons in SWS cortex, as has been suggested for various types of epilepsies. Patch-clamp and field potential recordings and dynamic biphoton imaging were used to analyze cortical tissue samples obtained from four 6- to 14-month-old pediatric SWS patients during surgery. Neurons in SWS cortex were characterized by a relatively depolarized resting membrane potential, as was estimated from cell-attached recordings of N-methyl-D-aspartate channels. Many cells spontaneously fired action potentials at a rate proportional to the level of neuronal depolarization. The reversal potential for GABA-activated currents, assessed by cell-attached single channel recordings, was close to the resting membrane potential. All spontaneously firing neurons recorded in cell-attached mode or imaged with biphoton microscopy were inhibited by GABA. Spontaneous epileptiform activity in the form of recurrent population bursts was suppressed by glutamate receptor antagonists, the GABA(A) receptor agonist isoguvacine, and the positive allosteric GABA(A) modulator diazepam. Blockade of GABA(A) receptors aggravated spontaneous epileptiform activity. The NKCC1 antagonist bumetanide had little effect on epileptiform activity. SWS cortical neurons have a relatively depolarized resting membrane potential and spontaneously fire action potentials that may contribute to increased network excitability. In contrast to previous data depicting excitatory and proconvulsive actions of GABA in certain pediatric and adult epilepsies, GABA plays mainly an inhibitory and anticonvulsive role in SWS pediatric cortex.

  7. Cyclic Vomiting Syndrome (CVS: is there a difference based on onset of symptoms - pediatric versus adult?

    Directory of Open Access Journals (Sweden)

    Kumar Nilay

    2012-05-01

    Full Text Available Abstract Background Cyclic Vomiting Syndrome (CVS is a well-recognized functional gastrointestinal disorder in children but its presentation is poorly understood in adults. Genetic differences in pediatric-onset (presentation before age 18 and adult-onset CVS have been reported recently but their clinical features and possible differences in response to therapy have not been well studied. Methods This was a retrospective review of 101 CVS patients seen at the Medical College of Wisconsin between 2006 and 2008. Rome III criteria were utilized to make the diagnosis of CVS. Results Our study population comprised of 29(29% pediatric-onset and 72 (71% adult-onset CVS patients. Pediatric-onset CVS patients were more likely to be female (86% vs. 57%, p = 0.005 and had a higher prevalence of CVS plus (CVS + neurocognitive disorders as compared to adult-onset CVS patients (14% vs. 3%, p = 0.05. There was a longer delay in diagnosis (10 ± 7 years in the pediatric-onset group when compared to (5 ± 7 years adult-onset CVS group (p = 0.001. Chronic opiate use was less frequent in the pediatric-onset group compared to adult-onset patients (0% vs. 23%, p = 0.004. Aside from these differences, the two groups were similar with regards to their clinical features and the time of onset of symptoms did not predict response to standard treatment. The majority of patients (86% responded to treatment with tricyclic antidepressants, anticonvulsants (topiramate, coenzyme Q-10, and L-carnitine. Non-response to therapy was associated with coalescence of symptoms, chronic opiate use and more severe disease as characterized by longer episodes, greater number of emergency department visits in the year prior to presentation, presence of disability and non-compliance on univariate analysis. On multivariate analysis, only compliance to therapy was associated with a response. (88% vs. 38%, Odds Ratio, OR 9.6; 95% Confidence Interval [CI], 1.18-77.05. Conclusion Despite reported

  8. Cranial MRI findings in pediatric patients with bilateral spastic paralysis. Comparison with neonatal cranial echography and correlation with neurological sequelae

    International Nuclear Information System (INIS)

    Yamashita, Yushiro; Horikawa, Mizuho; Matsuishi, Toyojiro; Utsunomiya, Hidetsuna; Okudera, Toshio; Fukuda, Seiichi; Hashimoto, Takeo; Nakamura, Yasuhiro.

    1994-01-01

    Fourteen patients with bilateral spastic paralysis (an average age of 2 years and 5 months) were examined using magnetic resonance imaging (MRI). Common MRI findings were an enlarged cerebral ventricle, irregular wall, abnormal signal area in the vicinity of the cerebral ventricle, decrease in the content of white matter, and thickening of the callosum. These findings seemed to reflect pathological lesions in periventricular leukomalacia (PVL). Of 3 patients who had been diagnosed as having cystic PVL on neonatal ultrasonography, 2 had cystic lesions in the corresponding areas on MRI. In the other patient with cystic PVL, membrane-like wall between the cyst and the enlarged cerebral ventricle was different from that seen definitely in porencephalie on spin density images. In patients in whom PVL was missed on neonatal ultrasonography, MRI demonstrated PVL. There was correlation between MRI findings and neurological sequelae: the severity of exercise function tended to correlate with the degree of decreased white matter; however, there was no correlation between spread of abnormal signal areas and the severity of exercise function. (N.K.)

  9. Cranial MRI findings in pediatric patients with bilateral spastic paralysis. Comparison with neonatal cranial echography and correlation with neurological sequelae

    Energy Technology Data Exchange (ETDEWEB)

    Yamashita, Yushiro; Horikawa, Mizuho; Matsuishi, Toyojiro (Kurume Univ., Fukuoka (Japan). School of Medicine); Utsunomiya, Hidetsuna; Okudera, Toshio; Fukuda, Seiichi; Hashimoto, Takeo; Nakamura, Yasuhiro

    1994-08-01

    Fourteen patients with bilateral spastic paralysis (an average age of 2 years and 5 months) were examined using magnetic resonance imaging (MRI). Common MRI findings were an enlarged cerebral ventricle, irregular wall, abnormal signal area in the vicinity of the cerebral ventricle, decrease in the content of white matter, and thickening of the callosum. These findings seemed to reflect pathological lesions in periventricular leukomalacia (PVL). Of 3 patients who had been diagnosed as having cystic PVL on neonatal ultrasonography, 2 had cystic lesions in the corresponding areas on MRI. In the other patient with cystic PVL, membrane-like wall between the cyst and the enlarged cerebral ventricle was different from that seen definitely in porencephalie on spin density images. In patients in whom PVL was missed on neonatal ultrasonography, MRI demonstrated PVL. There was correlation between MRI findings and neurological sequelae: the severity of exercise function tended to correlate with the degree of decreased white matter; however, there was no correlation between spread of abnormal signal areas and the severity of exercise function. (N.K.).

  10. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features

    Directory of Open Access Journals (Sweden)

    Reena Sharma

    2012-01-01

    Full Text Available Epidermal nevus syndrome (ENS is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko′s lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.

  11. [Toxocariasis in an adult manifested as hypereosinophilic syndrome with predominant neurological involvement. Clinical case].

    Science.gov (United States)

    Ardiles, A; Chanqueo, L; Reyes, V; Araya, L

    2001-07-01

    Hypereosinophilic syndrome is characterized by persistent hypereosinophilia and signs or symptoms due to organ involvement, specially nervous system, heart and skin. It can be primary or secondary to allergies, parasites or cancer. Toxocariasis is an uncommon parasitic disease in adults. There is a variant, called visceral larva migrans, that can involve different organs, and among those, the central nervous system. We report a 61 years old male, with a cerebrovascular disease. There were focalizing symptoms, the CAT scan showed multiple ischemic lesions and a peripheral eosinophilia of 12,152 cells/mm3 was present. Anti toxocara IgG antibody titers were 1/1000. The patient was treated with albendazole for 14 days. After a 2 years follow up the patients is in good conditions and, for the first time, his eosinophil count is within normal limits.

  12. Mowat-Wilson syndrome: neurological and molecular study in seven patients

    Directory of Open Access Journals (Sweden)

    José Albino da Paz

    2015-01-01

    Full Text Available Objective To present a seven-cases serie of Mowat-Wilson syndrome (MWS. Method All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. Results A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6. The EEG showed epileptic focal activity (5/7. The imaging studies revealed total agenesis (4/7 and partial agenesis of the corpus callosum (1/7. Conclusion Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.

  13. Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects.

    Science.gov (United States)

    Mazzilli, Rossella; Delfino, Michele; Elia, Jlenia; Benedetti, Francesco; Alesi, Laura; Chessa, Luciana; Mazzilli, Fernando

    2016-01-01

    We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. Although previously hospitalised in other medical centres, only psychological support had been recommended for this patient. In our department, genetic, biochemical/hormonal and ultrasound examinations were undertaken. The karyotype was 49,XXXXY, a rare aneuploidy with an incidence of 1/85 000-100 000, characterised by the presence of three extra X chromosomes in phenotypically male subjects. The hormonal/biochemical profile showed hypergonadotropic hypogonadism, insulin resistance and vitamin D deficiency. The patient was then treated with testosterone replacement therapy. After 12 months of treatment, we observed the normalisation of testosterone levels. There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin D values. Moreover, the patient showed greater interaction with the social environment and context. In cases of plurimalformative syndrome, cognitive impairment, recurrent infections during growth and, primarily, delayed puberty, it is necessary to ascertain as soon as possible whether the patient is suffering from hypogonadism or metabolic disorders due to genetic causes. In our case, the diagnosis of hypogonadism, and then of 49,XXXXY syndrome, was unfortunately made only at the age of 19 years.The testosterone replacement treatment, even though delayed, induced positive effects on: i) development of the reproductive system, ii) regulation of the metabolic profile and iii) interaction with the social environment and context.However, earlier and timely hormonal replacement treatment could probably have improved the quality of life of this subject and his family.

  14. Classification of childhood epilepsies in a tertiary pediatric neurology clinic using a customized classification scheme from the international league against epilepsy 2010 report.

    Science.gov (United States)

    Khoo, Teik-Beng

    2013-01-01

    In its 2010 report, the International League Against Epilepsy Commission on Classification and Terminology had made a number of changes to the organization, terminology, and classification of seizures and epilepsies. This study aims to test the usefulness of this revised classification scheme on children with epilepsies aged between 0 and 18 years old. Of 527 patients, 75.1% only had 1 type of seizure and the commonest was focal seizure (61.9%). A specific electroclinical syndrome diagnosis could be made in 27.5%. Only 2.1% had a distinctive constellation. In this cohort, 46.9% had an underlying structural, metabolic, or genetic etiology. Among the important causes were pre-/perinatal insults, malformation of cortical development, intracranial infections, and neurocutaneous syndromes. However, 23.5% of the patients in our cohort were classified as having "epilepsies of unknown cause." The revised classification scheme is generally useful for pediatric patients. To make it more inclusive and clinically meaningful, some local customizations are required.

  15. Microaspiration Syndrome in Pediatric Practice: Modern Features and Role in Bronchial Obstruction Syndrome Formation

    Directory of Open Access Journals (Sweden)

    S.I. Ilchenko

    2016-10-01

    Full Text Available The paper presents the data on research of aspiration syndrome prevalence among young children treated in the City children’s pulmonary department due to protracted course of obstructive bronchitis. The structure of microaspiration reasons in young children was studied (2010–2015. The most significant reasons of microaspiration syndrome development were revealed depending on children age. Modified questionnaire for the parents was used to collect anamnesis effectively. The children with perinatal impairment of nervous system, preterm children, and the children with morphological and physio­logical nasopharyngeal defects, with muscular dystonia are firstly in risk group for microaspiration syndrome. Microaspiration may manifest with frequent regurgitation, vomiting during cough, meal leaking from the nose, correlation of coughing fit with feeding, exacerbation or development of coughing in prone position, fit of night coughing and asphyxia, long-term hacking after cough attack. Pediatricians are recommended to observe attentively their patients during each feeding as dysphagy could be inconstant. Microaspiration syndrome is a challenging for diagnosis and requires complex approach, as mostly diagnostic procedures are invasive. Timely diagnosis and treatment of microaaspiration syndrome allow decrease respiratory diseases rate in young children and reduce obstructive bronchitis duration.

  16. A clinical and neurological study on the Sturge-Weber syndrome

    International Nuclear Information System (INIS)

    Ochiai, Takako

    1987-01-01

    The author studied the relationship between facial nevus and intracranial changes seen on cranial computed tomography (CCT) scannings in 12 children with typical Sturge-Weber syndrome. The evaluation of epileptic attacks, repeat EEG and cranial CT examinations with or without enhancement during the follow-up period of 8 years in average were analysed. In 7 cases (58.3 %), the dominant side of facial hemangioma was identical with that of calcification on CCT. Three cases of central facial nevus showed calcification in one hemisphere, on either side. One who had facial nevus on one side showed dominant calcification on the other side on CT. The area and side of the facial nevus did not always coincide with those of the intracranial lesion. In 4 of the 9 patients who were followed up by repeat CCT, we recognized increases in degree of brain atrophy with or without increases in the area of calcification. In the enhancement study, 6 patients (89 %) showed positive choroid plexus images with abnormal enhancement on the same side as the calcification. On EEG 5 cases showed epileptiform activity over the hemisphere with calcification, and 3 showed it on the intact side of the brain. (author)

  17. Pediatric siMS score: A new, simple and accurate continuous metabolic syndrome score for everyday use in pediatrics.

    Science.gov (United States)

    Vukovic, Rade; Milenkovic, Tatjana; Stojan, George; Vukovic, Ana; Mitrovic, Katarina; Todorovic, Sladjana; Soldatovic, Ivan

    2017-01-01

    The dichotomous nature of the current definition of metabolic syndrome (MS) in youth results in loss of information. On the other hand, the calculation of continuous MS scores using standardized residuals in linear regression (Z scores) or factor scores of principal component analysis (PCA) is highly impractical for clinical use. Recently, a novel, easily calculated continuous MS score called siMS score was developed based on the IDF MS criteria for the adult population. To develop a Pediatric siMS score (PsiMS), a modified continuous MS score for use in the obese youth, based on the original siMS score, while keeping the score as simple as possible and retaining high correlation with more complex scores. The database consisted of clinical data on 153 obese (BMI ≥95th percentile) children and adolescents. Continuous MS scores were calculated using Z scores and PCA, as well as the original siMS score. Four variants of PsiMS score were developed in accordance with IDF criteria for MS in youth and correlation of these scores with PCA and Z score derived MS continuous scores was assessed. PsiMS score calculated using formula: (2xWaist/Height) + (Glucose(mmol/l)/5.6) + (triglycerides(mmol/l)/1.7) + (Systolic BP/130)-(HDL(mmol/l)/1.02) showed the highest correlation with most of the complex continuous scores (0.792-0.901). The original siMS score also showed high correlation with continuous MS scores. PsiMS score represents a practical and accurate score for the evaluation of MS in the obese youth. The original siMS score should be used when evaluating large cohorts consisting of both adults and children.

  18. Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome.

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    Hoekman, Daniël R; Rutten, Juliette M T M; Vlieger, Arine M; Benninga, Marc A; Dijkgraaf, Marcel G W

    2015-11-01

    To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed. Patients' parents completed a questionnaire concerning usage of healthcare resources, travel costs, out-of-pocket expenses, productivity loss of parents, and supportive measures at school. Use of abdominal pain related prescription medication was derived from case reports forms. Total annual costs per patient were calculated as the sum of direct and indirect medical and nonmedical costs. Costs of initial diagnostic investigations were not included. A total of 258 children, mean age 13.4 years (±5.5), were included, and 183 (70.9%) were female. Total annual costs per patient were estimated to be €2512.31. Inpatient and outpatient healthcare use were major cost drivers, accounting for 22.5% and 35.2% of total annual costs, respectively. Parental productivity loss accounted for 22.2% of total annual costs. No difference was found in total costs between children with IBS or FAP/FAPS. Pediatric abdominal pain related functional gastrointestinal disorders impose a large economic burden on patients' families and healthcare systems. More than one-half of total annual costs of IBS and FAP/FAPS consist of inpatient and outpatient healthcare use. Netherlands Trial Registry: NTR2725. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Hypophosphatemia is a common complication in severely disabled individuals with neurological disorders and is caused by infection, refeeding and Fanconi syndrome.

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    Saito, Yoshiaki; Aoki, Yusuke; Takeshita, Eri; Saito, Takashi; Sugai, Kenji; Komaki, Hirofumi; Nakagawa, Eiji; Ishiyama, Akihiko; Takanoha, Satoko; Wada, Satoru; Sasaki, Masayuki

    2014-11-01

    To describe the characteristics of hypophosphatemia in severely disabled individuals with neurological disorders and to identify its causative factors. We retrospectively reviewed clinical data from 82 individuals with motor skills classified as sitting, rollover or bedridden. Age, gender and body mass index were compared in individuals with (n=19) and without (n=63) a history of hypophosphatemia (serum phosphate levels refeeding syndrome (n=4) and Fanconi syndrome (n=3), but was unidentifiable in one episode. Significant elevations in C-reactive protein levels and reductions in sodium levels were observed during hypophosphatemia episodes. Hypophosphatemia is a common complication in severely disabled individuals with frequent bacterial infections, refeeding following malnutrition and valproate administration for epilepsy treatment. Because severe hypophosphatemia is life threatening, serum phosphate levels should be closely monitored in this population. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  20. [Epigenome: what we learned from Rett syndrome, a neurological disease caused by mutation of a methyl-CpG binding protein].

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    Kubota, Takeo

    2013-01-01

    Epigenome is defined as DNA and histone modification-dependent gene regulation system. Abnormalities in this system are known to cause various neuro-developmental diseases. We recently reported that neurological symptoms of Rett syndrome, which is an autistic disorder caused by mutations in methyl-CpG binding protein 2 (MeCP2), was associated with failure of epigenomic gene regulation in neuronal cells, and that clinical differences in the identical twins with Rett syndrome in the differences in DNA methylation in neuronal genes, but not caused by DNA sequence differences. Since central nervus system requires precise gene regulation, neurological diseases including Alzheimer and Parkinson diseases may be caused by acquired DNA modification (epigenomic) changes that results in aberrant gene regulation as well as DNA sequence changes congenitally occurred (mutation).

  1. HRV biofeedback for pediatric irritable bowel syndrome and functional abdominal pain: a clinical replication series.

    Science.gov (United States)

    Stern, Mark J; Guiles, Robert A F; Gevirtz, Richard

    2014-12-01

    Irritable bowel syndrome (IBS) and Functional Abdominal Pain (FAP) are among the most commonly reported Functional Gastrointestinal Disorders. Both have been associated with varying autonomic dysregulation. Heart Rate Variability Biofeedback (HRVB) has recently begun to show efficacy in the treatment of both IBS and FAP. The purpose of this multiple clinical replication series was to analyze the clinical outcomes of utilizing HRVB in a clinical setting. Archival data of twenty-seven consecutive pediatric outpatients diagnosed with IBS or FAP who received HRVB were analyzed. Clinical outcomes were self-report and categorized as full or remission with patient satisfaction, or no improvement. Qualitative reports of patient experiences were also noted. Full remission was achieved by 69.2 % and partial remission was achieved by 30.8 % of IBS patients. Full remission was achieved by 63.6 % and partial remission was achieved by 36.4 % of FAP patients. No patients in either group did not improve to a level of patient satisfaction or >50 %. Patient's commonly reported feeling validated in their discomfort as a result of psychophysiological education. Results suggest that HRVB is a promising intervention for pediatric outpatients with IBS or FAP. Randomized controlled trials are necessary to accurately determine clinical efficacy of HRVB in the treatment of IBS and FAP.

  2. Pediatric Guillain-Barré syndrome: Indicators for a severe course

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    Muhammet Ali Varkal

    2015-01-01

    Full Text Available Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey. Materials and Methods: The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, and Fisher′s exact tests were used for statistical analysis. Results: Mean patient age was 5.4 ± 3.0 years; 20 out of 40 patients (50% were female and 20 (50% were male. Preceding infection was detected in 32 cases (80%. Six patients had speech impairment. Out of eight patients with respiratory distress (20%, five required respiratory support (12.5% of which three of them had speech impairment as well. According to nerve conduction studies, 21 patients (52.5% had acute inflammatory demyelinating polyradiculoneuropathy, 14 (35% had acute motor axonal neuropathy, and five (12.5% had acute motor-sensory axonal neuropathy. Thirty-three patients (82.5% received intravenous immunglobulin, 3 (7.5% underwent plasmapheresis and 4 (10% received both. Time until recovery (P = 0.022 and time until aided (P = 0.036 and unaided (P = 0.027 walking were longer in patients with acute gastrointestinal infection than in those with upper respiratory tract infection (P < 0.05. Time until response to treatment (P = 0.001, time until aided (P = 0.001 and unaided (P = 0.002 walking, and time until complete recovery (P = 0.002 were longer in acute motor axonal neuropathy cases as compared to acute inflammatory demyelinating polyradiculoneuropathy cases. Conclusion: Recovery was longer with acute gastrointestinal infection and acute motor axonal neuropathy. Speech impairment could be a clinical clue for the need of mechanical ventilation.

  3. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

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    Kimberling, William J; Hildebrand, Michael S; Shearer, A Eliot; Jensen, Maren L; Halder, Jennifer A; Trzupek, Karmen; Cohn, Edward S; Weleber, Richard G; Stone, Edwin M; Smith, Richard J H

    2010-08-01

    Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene. Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

  4. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

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    Carlos Sánchez-Montenegro

    2017-01-01

    Full Text Available Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms “Costello syndrome” and “rhabdomyosarcoma” was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months. The most common tumor location was the abdomen/pelvis, including four out of ten of those in the umbilical ligament. The most common histological subtype was embryonal rhabdomyosarcoma. Overall survival was 43%. A total of 17 rhabdomyosarcomas in pediatric patients arising in the umbilical ligament were recorded with mean age of diagnosis of 3 years and 4 months. Overall survival was 69%. Costello syndrome is a poorly known disorder in pediatric oncology but their predisposition to malignancies implies the need for a new perspective on early diagnosis and aggressive medical and surgical treatment.

  5. A unifying theory for cognitive abnormalities in functional neurological disorders, fibromyalgia and chronic fatigue syndrome: systematic review.

    Science.gov (United States)

    Teodoro, Tiago; Edwards, Mark J; Isaacs, Jeremy D

    2018-05-07

    Functional cognitive disorder (FCD) describes cognitive dysfunction in the absence of an organic cause. It is increasingly prevalent in healthcare settings yet its key neuropsychological features have not been reported in large patient cohorts. We hypothesised that cognitive profiles in fibromyalgia (FM), chronic fatigue syndrome (CFS) and functional neurological disorders (FNDs) would provide a template for characterising FCD. We conducted a systematic review of studies with cognition-related outcomes in FM, CFS and FND. We selected 52 studies on FM, 95 on CFS and 39 on FND. We found a general discordance between high rates of subjective cognitive symptoms, including forgetfulness, distractibility and word-finding difficulties, and inconsistent objective neuropsychological deficits. Objective deficits were reported, including poor selective and divided attention, slow information processing and vulnerability to distraction. In some studies, cognitive performance was inversely correlated with pain, exertion and fatigue. Performance validity testing demonstrated poor effort in only a minority of subjects, and patients with CFS showed a heightened perception of effort. The cognitive profiles of FM, CFS and non-cognitive FND are similar to the proposed features of FCD, suggesting common mechanistic underpinnings. Similar findings have been reported in patients with mild traumatic brain injury and whiplash. We hypothesise that pain, fatigue and excessive interoceptive monitoring produce a decrease in externally directed attention. This increases susceptibility to distraction and slows information processing, interfering with cognitive function, in particular multitasking. Routine cognitive processes are experienced as unduly effortful. This may reflect a switch from an automatic to a less efficient controlled or explicit cognitive mode, a mechanism that has also been proposed for impaired motor control in FND. These experiences might then be overinterpreted due to

  6. The Correlation of Regulatory T (TReg and Vitamin D3 in Pediatric Nephrotic Syndrome

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    Yunika Nurtyas

    2018-01-01

    Full Text Available Nephrotic syndrome (NS is an autoimmune disease that correlates to the imbalance of regulatory T cells (TReg. This study was aimed to investigate the effect of vitamin D as adjuvant therapy of TReg population in pediatric nephrotic syndrome. This study was designed randomized clinical trial, double blind, with pre- and post-test control groups involving 15 subjects newly diagnosed with NS. Subjects were divided into 2 groups, namely K1 for group treated with prednisone+vitamin D and K2 group for prednisone treatment only. The population of TReg in peripheral blood mononuclear cells (PBMC was analyzed using flowcytometry. Vitamin D serum level was measured through ELISA method. Results showed that there was a significant elevation of TReg (independent t-test, p = 0.010 in K1 group, which was higher than in K2 group. The Pearson test in the K1 group showed that vitamin D level was positively correlated with TReg (p = 0.039, r = 0.779.

  7. Pediatric Sjogren syndrome with distal renal tubular acidosis and autoimmune hypothyroidism: an uncommon association.

    Science.gov (United States)

    Agarwal, Amit; Kumar, Pradeep; Gupta, Nomeeta

    2015-11-01

    A 14-year-old female came with the history of sudden onset weakness; during work up, she was found to have hyperchloremic metabolic acidosis with normal anion gap and normal renal function suggesting the possibility of renal tubular acidosis (RTA). On further evaluation of RTA, she had positive antinuclear antibody, anti-Ro, and anti-La antibodies. On nuclear scan of salivary glands, her left parotid gland was nonfunctional. Her parotid biopsy revealed dilated interlobular ducts engulfed by lymphoid cells. She also had autoimmune hypothyroidism as suggested by raised TSH and positive anti-TPO antibodies. At admission, her serum potassium levels were low and she was treated with intravenous potassium chloride. After she recovered from acute hypokalemic paralysis, she was started on oral potassium citrate along with phosphate supplements, hydroxychloroquine, oral prednisolone and thyroxine supplements. Over the next 6 months, she has significant reduction in the dosage of potassium, bicarbonate and phosphate and gained 3 kg of weight and 3.5 cm of height. As primary Sjogren syndrome itself is rare in pediatric population and its association with renal tubular acidosis is even rarer, we suggest considering Sjogren syndrome as a differential diagnosis during the RTA work-up is worth trying.

  8. Anterior Cutaneous Nerve Entrapment Syndrome in a Pediatric Patient Previously Diagnosed With Functional Abdominal Pain: A Case Report.

    Science.gov (United States)

    DiGiusto, Matthew; Suleman, M-Irfan

    2018-03-23

    Chronic abdominal pain is common in children and adolescents but challenging to diagnose, because practitioners may be concerned about missing serious occult disease. Abdominal wall pain is an often ignored etiology for chronic abdominal pain. Anterior cutaneous nerve entrapment syndrome causes abdominal wall pain but is frequently overlooked. Correctly diagnosing patients with anterior cutaneous nerve entrapment syndrome is important because nerve block interventions are highly successful in the remittance of pain. Here, we present the case of a pediatric patient who received a diagnosis of functional abdominal pain but experienced pain remittance after receiving a trigger-point injection and transverse abdominis plane block.

  9. Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population.

    Science.gov (United States)

    Seidel, Natan E; Arlen, Angela M; Smith, Edwin A; Kirsch, Andrew J

    2015-01-01

    To review the clinical manifestations and operative management of a large contemporary pediatric cohort of patients with prune-belly syndrome (PBS). PBS patients aged <21 years followed up in our pediatric urology clinic were identified by the International Classification of Diseases, Ninth Revision code (756.71). Demographics, concomitant diagnoses, surgical history, imaging studies, and renal or bladder function were evaluated. Data were available for 46 pediatric patients (44 boys and 2 girls). Mean age was 7.6 ± 4.7 years (range, 0.9-20 years). Average length of clinical follow-up was 6.8 ± 5 years. Forty-five children (97.8%) had hydroureteronephrosis, and 36 of them (78.3%) had vesicoureteral reflux. Five patients (10.9%) had significant pulmonary insufficiency, and 2 patients (4.3%) were oxygen dependent. Eighteen children (39.1%) had other congenital malformations, including cardiac in 4 patients (8.7%) and musculoskeletal anomalies in 10 patients (21.7%). Orchidopexy was the most common surgery, with all boys aged ≥3 years having undergone the procedure. Twenty-two patients (47.8%) had a history of ureteral surgery, 22 (47.8%) had bladder surgery, 11 (23.9%) had renal surgery, and 6 (13%) had urethral procedures. Nineteen patients (41.3%) underwent abdominoplasty. Eighteen children (39.1%) had documented chronic kidney disease, and 8 children (17.4%) underwent renal transplantation. Average age at transplantation was 5.1 ± 2.9 years. The mean nadir creatinine level for patients with end-stage renal disease was 1.4 mg/dL compared with 0.4 mg/dL for those not requiring transplantation (P <.001). Children with PBS have significant comorbidities and require frequent operative intervention, with disease heterogeneity necessitating an individualized management approach. Early end-stage renal disease is prevalent, with approximately 15% of children requiring kidney transplantation. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Neurological toxicity after phenytoin infusion in a pediatric patient with epilepsy: influence of CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms.

    Science.gov (United States)

    Dorado, P; López-Torres, E; Peñas-Lledó, E M; Martínez-Antón, J; Llerena, A

    2013-08-01

    Pharmacogenetic studies have shown that genetic defects in drug-metabolizing enzymes encoded by CYP2C9, CYP2C19 genes and by the transporter ABCB1 gene can influence phenytoin (PTH) plasma levels and toxicity. The patient reported here is a 2-year-old girl with a medical history of cryptogenic (probably symptomatic) epilepsy, who had her first focal seizure with secondary generalization at 13 months of age. She initially received oral valproate treatment and three months later, she was prescribed an oral oxcarbazepine treatment. At 20 months of age, she was admitted to the Emergency Department because of generalized convulsive Status Epilepticus needing to be immediately treated with rectal diazepam (0.5 mg kg(-1)), intravenous diazepam (0.3 mg kg(-1)), and intravenous phenytoin with an initial-loading dose of 15 mg kg(-1). However, two hours after the initial-loading dose of PTH, the patient developed dizziness, nystagmus, ataxia and excessive sedation. Other potential causes of PTH toxicity were excluded such as drug interactions, decreased albumin or lab error. Therefore, to explain the neurological toxicity, PTH plasma levels and CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms were analyzed. Initial plasma PTH levels were higher than expected (69 mg l(-1); normal range: 10-20 mg l(-1)), and the patient was homozygous for the CYP2C9*2 allele, heterozygous for the CYP2C19*4 allele and homozygous for the 3435C and 1236C ABCB1 alleles. Present findings support the previously established relationship between CYP2C9 and CYP2C19 genetic polymorphisms and the increased risk to develop PTH toxicity owing to high plasma concentrations. Nevertheless, although the association of these genes with PTH-induced adverse effects has been well-documented in adult populations, this is the first report examining the influence of these genetic polymorphisms on PTH plasma levels and toxicity in a pediatric patient.

  11. Neurologic complications of vaccinations.

    Science.gov (United States)

    Miravalle, Augusto A; Schreiner, Teri

    2014-01-01

    This chapter reviews the most common neurologic disorders associated with common vaccines, evaluates the data linking the disorder with the vaccine, and discusses the potential mechanism of disease. A literature search was conducted in PubMed using a combination of the following terms: vaccines, vaccination, immunization, and neurologic complications. Data were also gathered from publications of the American Academy of Pediatrics Committee on Infectious Diseases, the World Health Organization, the US Centers for Disease Control and Prevention, and the Vaccine Adverse Event Reporting System. Neurologic complications of vaccination are rare. Many associations have been asserted without objective data to support a causal relationship. Rarely, patients with a neurologic complication will have a poor outcome. However, most patients recover fully from the neurologic complication. Vaccinations have altered the landscape of infectious disease. However, perception of risk associated with vaccinations has limited the success of disease eradication measures. Neurologic complications can be severe, and can provoke fear in potential vaccines. Evaluating whether there is causal link between neurologic disorders and vaccinations, not just temporal association, is critical to addressing public misperception of risk of vaccination. Among the vaccines available today, the cost-benefit analysis of vaccinations and complications strongly argues in favor of vaccination. © 2014 Elsevier B.V. All rights reserved.

  12. Comparison of Prevalence and Outcomes of Pediatric Acute Respiratory Distress Syndrome Using Pediatric Acute Lung Injury Consensus Conference Criteria and Berlin Definition.

    Science.gov (United States)

    Gupta, Samriti; Sankar, Jhuma; Lodha, Rakesh; Kabra, Sushil K

    2018-01-01

    Our objective was to compare the prevalence and outcomes of pediatric acute respiratory distress syndrome using the Pediatric Acute Lung Injury Consensus Conference (PALICC) criteria and Berlin definitions. We screened case records of all children aged 1 month to 17 years of age admitted to the Pediatric Intensive Care Unit (PICU) over a 3-year period (2015-2017) for presence of any respiratory difficulty at admission or during PICU stay. We applied both PALICC and Berlin criteria to these patients. Data collection included definition and outcome related variables. Data were compared between the "PALICC only group" and the "Berlin with or without PALICC" group using Stata 11. Of a total of 615 admissions, 246 were identified as having respiratory difficulty at admission or during PICU stay. A total of 61 children (prevalence 9.9%; 95% CI: 7.8-12.4) fulfilled the definition of acute respiratory distress syndrome (ARDS) with either of the two criteria. While 60 children (98%) fulfilled PALICC criteria, only 26 children (43%) fulfilled Berlin definition. There was moderate agreement between the two definitions (Kappa: 0.51; 95% CI: 0.40-0.62; observed agreement 85%). Greater proportion of patients had severe ARDS in the "Berlin with or without PALICC group" as compared to the "PALICC only" group (50 vs. 19%). There was no difference between the groups with regard to key clinical outcomes such as duration of ventilation (7 vs. 8 days) or mortality [51.4 vs. 57.7%: RR (95% CI): 0.99 (0.64-1.5)]. In comparison to Berlin definition, the PALICC criteria identified more number of patients with ARDS. Proportion with severe ARDS and complications was greater in the "Berlin with or without PALICC" group as compared to the "PALICC only" group. There were no differences in clinical outcomes between the groups.

  13. Pediatric neurocritical care.

    Science.gov (United States)

    Murphy, Sarah

    2012-01-01

    Pediatric neurocritical care is an emerging multidisciplinary field of medicine and a new frontier in pediatric critical care and pediatric neurology. Central to pediatric neurocritical care is the goal of improving outcomes in critically ill pediatric patients with neurological illness or injury and limiting secondary brain injury through optimal critical care delivery and the support of brain function. There is a pressing need for evidence based guidelines in pediatric neurocritical care, notably in pediatric traumatic brain injury and pediatric stroke. These diseases have distinct clinical and pathophysiological features that distinguish them from their adult counterparts and prevent the direct translation of the adult experience to pediatric patients. Increased attention is also being paid to the broader application of neuromonitoring and neuroprotective strategies in the pediatric intensive care unit, in both primary neurological and primary non-neurological disease states. Although much can be learned from the adult experience, there are important differences in the critically ill pediatric population and in the circumstances that surround the emergence of neurocritical care in pediatrics.

  14. Effects of Adenotonsillectomy on Neurocognitive Function in Pediatric Obstructive Sleep Apnea Syndrome

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    Fumie Horiuchi

    2014-01-01

    Full Text Available Obstructive sleep apnea syndrome (OSAS in children does not only present with symptoms of sleep disturbances but also with associated symptoms such as growth failure, enuresis, academic learning difficulties, and behavioral problems, including attention deficit/hyperactivity disorder- (ADHD- like symptoms. We evaluated neurocognitive functions before and after adenotonsillectomy in a patient with OSAS. An 11-year-old boy suspected of having ADHD with nocturnal enuresis was referred for evaluation. He was found to have adenotonsillar hypertrophy. Presence of snoring was evident only after detailed medical interview. Polysomnography confirmed the diagnosis of OSAS, which was subsequently treated by adenotonsillectomy. The apnea/hypopnea index decreased from 21.9 at baseline to 1.8 after surgery, and the frequency of enuresis fell from almost nightly to 2-3 times per month. Neurocognitive and behavioral assessment after the treatment of OSAS showed significant improvement in cognitive functions, especially attention capacity and considerable amelioration of behavioral problems including ADHD-like symptoms. As the most common cause of pediatric OSAS is adenotonsillar hypertrophy, medical interview and oropharyngeal examination should always be performed in children suspected of having ADHD. The necessity of sleep evaluation for children with ADHD-like symptoms was also emphasized.

  15. Posterior Reversible Encephalopathy Syndrome in Pediatric Cancer: Clinical and Radiologic Findings

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    Saadiya Javed Khan

    2017-12-01

    Full Text Available Purpose: Posterior reversible encephalopathy syndrome (PRES is associated with a range of medical conditions and medications. In this retrospective analysis, we present 19 pediatric patients with PRES who had undergone chemotherapy. Methods: We identified four female and 15 male patients diagnosed with PRES on the basis of clinical and radiologic features. Patient charts were reviewed from January 2013 to June 2016 after authorization from the institutional review board. Results: The average age of patients with PRES was 7 years. Primary diagnoses were non-Hodgkin lymphoma (n = 9, acute pre–B-cell leukemia (n = 5, relapsed pre–B-cell leukemia (n = 2, Hodgkin lymphoma (n = 2, and Ewing sarcoma (n = 1. PRES occurred during induction chemotherapy in 12 patients. Sixteen patients had hypertension when they developed PRES. Most of these patients (n = 13 were receiving corticosteroids on diagnosis of PRES. Common clinical features were hypertension, seizures, and altered mental status. With the exclusion of three patients, all others required antiepileptic therapy. Ten of these patients underwent additional magnetic resonance imaging. Ten patients are still alive. Conclusion: In patients who presented to our center with signs and symptoms of hypertension, seizures, visual loss, or altered mental status, PRES was mostly seen in those who were undergoing systemic and intrathecal chemotherapy. Approximately 40% of the patients had reversal of clinical and radiologic findings. Antiepileptic medications were discontinued after being seizure free for approximately 6 months.

  16. Intrinsic brain networks normalize with treatment in pediatric complex regional pain syndrome

    Science.gov (United States)

    Becerra, Lino; Sava, Simona; Simons, Laura E.; Drosos, Athena M.; Sethna, Navil; Berde, Charles; Lebel, Alyssa A.; Borsook, David

    2014-01-01

    Pediatric complex regional pain syndrome (P-CRPS) offers a unique model of chronic neuropathic pain as it either resolves spontaneously or through therapeutic interventions in most patients. Here we evaluated brain changes in well-characterized children and adolescents with P-CRPS by measuring resting state networks before and following a brief (median = 3 weeks) but intensive physical and psychological treatment program, and compared them to matched healthy controls. Differences in intrinsic brain networks were observed in P-CRPS compared to controls before treatment (disease state) with the most prominent differences in the fronto-parietal, salience, default mode, central executive, and sensorimotor networks. Following treatment, behavioral measures demonstrated a reduction of symptoms and improvement of physical state (pain levels and motor functioning). Correlation of network connectivities with spontaneous pain measures pre- and post-treatment indicated concomitant reductions in connectivity in salience, central executive, default mode and sensorimotor networks (treatment effects). These results suggest a rapid alteration in global brain networks with treatment and provide a venue to assess brain changes in CRPS pre- and post-treatment, and to evaluate therapeutic effects. PMID:25379449

  17. Intrinsic brain networks normalize with treatment in pediatric complex regional pain syndrome

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    Lino Becerra

    2014-01-01

    Full Text Available Pediatric complex regional pain syndrome (P-CRPS offers a unique model of chronic neuropathic pain as it either resolves spontaneously or through therapeutic interventions in most patients. Here we evaluated brain changes in well-characterized children and adolescents with P-CRPS by measuring resting state networks before and following a brief (median = 3 weeks but intensive physical and psychological treatment program, and compared them to matched healthy controls. Differences in intrinsic brain networks were observed in P-CRPS compared to controls before treatment (disease state with the most prominent differences in the fronto-parietal, salience, default mode, central executive, and sensorimotor networks. Following treatment, behavioral measures demonstrated a reduction of symptoms and improvement of physical state (pain levels and motor functioning. Correlation of network connectivities with spontaneous pain measures pre- and post-treatment indicated concomitant reductions in connectivity in salience, central executive, default mode and sensorimotor networks (treatment effects. These results suggest a rapid alteration in global brain networks with treatment and provide a venue to assess brain changes in CRPS pre- and post-treatment, and to evaluate therapeutic effects.

  18. The Responsive Amygdala: Treatment-induced Alterations in Functional Connectivity in Pediatric Complex Regional Pain Syndrome

    Science.gov (United States)

    Simons, LE; Pielech, M; Erpelding, N; Linnman, C; Moulton, E; Sava, S; Lebel, A; Serrano, P; Sethna, N; Berde, C; Becerra, L; Borsook, D

    2014-01-01

    The amygdala is a key brain region with efferent and afferent neural connections that involve complex behaviors such as pain, reward, fear and anxiety. This study evaluated resting state functional connectivity of the amygdala with cortical and subcortical regions in a group of chronic pain patients (pediatric complex regional pain syndrome) with age-gender matched controls before and after intensive physical-biobehavioral pain treatment. Our main findings include (1) enhanced functional connectivity from the amygdala to multiple cortical, subcortical, and cerebellar regions in patients compared to controls, with differences predominantly in the left amygdala in the pre-treated condition (disease state); (2) dampened hyperconnectivity from the left amygdala to the motor cortex, parietal lobe, and cingulate cortex after intensive pain rehabilitation treatment within patients with nominal differences observed among healthy controls from Time 1 to Time 2 (treatment effects); (3) functional connectivity to several regions key to fear circuitry (prefrontal cortex, bilateral middle temporal lobe, bilateral cingulate, hippocampus) correlated with higher pain-related fear scores and (4) decreases in pain-related fear associated with decreased connectivity between the amygdala and the motor and somatosensory cortex, cingulate, and frontal areas. Our data suggest that there are rapid changes in amygdala connectivity following an aggressive treatment program in children with chronic pain and intrinsic amygdala functional connectivity activity serving as a potential indicator of treatment response. PMID:24861582

  19. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    Directory of Open Access Journals (Sweden)

    E.D.R.P. Velloso

    2013-01-01

    Full Text Available Myelodysplastic syndromes (MDS and juvenile myelomonocytic leukemia (JMML are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED. We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome. Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  20. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

    Science.gov (United States)

    Velloso, E D R P; Chauffaille, M L; Peliçario, L M; Tanizawa, R S S; Toledo, S R C; Gaiolla, R D; Lopes, L F

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  1. Variability in Usual Care Mechanical Ventilation for Pediatric Acute Respiratory Distress Syndrome: Time for a Decision Support Protocol?

    Science.gov (United States)

    Newth, Christopher J L; Sward, Katherine A; Khemani, Robinder G; Page, Kent; Meert, Kathleen L; Carcillo, Joseph A; Shanley, Thomas P; Moler, Frank W; Pollack, Murray M; Dalton, Heidi J; Wessel, David L; Berger, John T; Berg, Robert A; Harrison, Rick E; Holubkov, Richard; Doctor, Allan; Dean, J Michael; Jenkins, Tammara L; Nicholson, Carol E

    2017-11-01

    Although pediatric intensivists philosophically embrace lung protective ventilation for acute lung injury and acute respiratory distress syndrome, we hypothesized that ventilator management varies. We assessed ventilator management by evaluating changes to ventilator settings in response to blood gases, pulse oximetry, or end-tidal CO2. We also assessed the potential impact that a pediatric mechanical ventilation protocol adapted from National Heart Lung and Blood Institute acute respiratory distress syndrome network protocols could have on reducing variability by comparing actual changes in ventilator settings to those recommended by the protocol. Prospective observational study. Eight tertiary care U.S. PICUs, October 2011 to April 2012. One hundred twenty patients (age range 17 d to 18 yr) with acute lung injury/acute respiratory distress syndrome. Two thousand hundred arterial and capillary blood gases, 3,964 oxygen saturation by pulse oximetry, and 2,757 end-tidal CO2 values were associated with 3,983 ventilator settings. Ventilation mode at study onset was pressure control 60%, volume control 19%, pressure-regulated volume control 18%, and high-frequency oscillatory ventilation 3%. Clinicians changed FIO2 by ±5 or ±10% increments every 8 hours. Positive end-expiratory pressure was limited at ~10 cm H2O as oxygenation worsened, lower than would have been recommended by the protocol. In the first 72 hours of mechanical ventilation, maximum tidal volume/kg using predicted versus actual body weight was 10.3 (8.5-12.9) (median [interquartile range]) versus 9.2 mL/kg (7.6-12.0) (p Ventilator management varies substantially in children with acute respiratory distress syndrome. Opportunities exist to minimize variability and potentially injurious ventilator settings by using a pediatric mechanical ventilation protocol offering adequately explicit instructions for given clinical situations. An accepted protocol could also reduce confounding by mechanical

  2. Home-Based Hypnotherapy Self-exercises vs Individual Hypnotherapy With a Therapist for Treatment of Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, or Functional Abdominal Pain Syndrome: A Randomized Clinical Trial

    NARCIS (Netherlands)

    Rutten, Juliette M. T. M.; Vlieger, Arine M.; Frankenhuis, Carla; George, Elvira K.; Groeneweg, Michael; Norbruis, Obbe F.; Tjon A ten, Walther; van Wering, Herbert M.; Dijkgraaf, Marcel G. W.; Merkus, Maruschka P.; Benninga, Marc A.

    2017-01-01

    Individual gut-directed hypnotherapy (HT) is effective in pediatric irritable bowel syndrome (IBS) and functional abdominal pain or functional abdominal pain syndrome (FAP[S]). It is, however, unavailable to many children. To compare the effectiveness of HT by means of home-based self-exercises

  3. Quantitative MRI shows cerebral microstructural damage in hemolytic-uremic syndrome patients with severe neurological symptoms but no changes in conventional MRI

    Energy Technology Data Exchange (ETDEWEB)

    Weissenborn, Karin; Worthmann, Hans; Heeren, Meike [Hannover Medical School, Clinic for Neurology, Hannover (Germany); Bueltmann, Eva; Donnerstag, Frank; Giesemann, Anja M.; Goetz, Friedrich; Lanfermann, Heinrich; Ding, Xiao-Qi [Hannover Medical School, Institute of Diagnostic and Interventional Neuroradiology, Hannover (Germany); Kielstein, Jan; Schwarz, Anke [Hannover Medical School, Clinic for Nephrology and Hypertension, Hannover (Germany)

    2013-07-15

    Severe neurological symptoms in Shiga toxin-producing Escherichia coli infection associated hemolytic-uremic syndrome (STEC-HUS) are often accompanied by none or only mild alterations of cerebral magnetic resonance imaging (MRI). This study aims to analyze if quantitative MRI is able to reveal cerebral pathological alterations invisible for conventional MRI. In nine patients with STEC-HUS associated severe neurological symptoms but inconspicuous cerebral MRI findings maps of the parameters T2 relaxation time, relative proton density (PD), apparent diffusion coefficient (ADC), and fractional anisotropy (FA) were generated. Quantitative values of these parameters were measured at the basal ganglia, thalamus, and white matter of the frontal and parietal lobe and compared to those of nine age- and sex-matched controls. Significant T2 prolongation (p < 0.01) was found in the basal ganglia of all patients compared to controls. PD and ADC were not significantly altered. A significant reduction of FA in patients was seen at caput nuclei caudati (p < 0.01). Prolonged T2 relaxation time indicates cerebral microstructural damages in these patients despite their inconspicuous MRI findings. T2 relaxometry could be used as a complementary tool for the assessment of metabolic-toxic brain syndromes. (orig.)

  4. CSF neurofilament light chain is elevated in OMS (decreasing with immunotherapy) and other pediatric neuroinflammatory disorders.

    Science.gov (United States)

    Pranzatelli, Michael R; Tate, Elizabeth D; McGee, Nathan R; Verhulst, Steven J

    2014-01-15

    Using a panel of seven brain cell-specific biomarkers in cerebrospinal fluid (CSF), pediatric opsoclonus-myoclonus syndrome (OMS) (n=234) was compared to pediatric non-inflammatory neurological controls (n=84) and other inflammatory neurological disorders (OIND) (n=44). Only CSF NFL was elevated in untreated OMS versus controls (+83%). It was 87% higher in OIND than in OMS. On combination treatment with front-loaded ACTH, IVIg, rituximab, median CSF NFL decreased by 60% to control levels. These biochemical data suggest neuronal/axonal injury in some children with OMS without indicators of astrogliosis, and reduction on sufficient immunotherapy. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Neurologic Complications of Transplantation.

    Science.gov (United States)

    Dhar, Rajat

    2018-02-01

    Neurologic disturbances including encephalopathy, seizures, and focal deficits complicate the course 10-30% of patients undergoing organ or stem cell transplantation. While much or this morbidity is multifactorial and often associated with extra-cerebral dysfunction (e.g., graft dysfunction, metabolic derangements), immunosuppressive drugs also contribute significantly. This can either be through direct toxicity (e.g., posterior reversible encephalopathy syndrome from calcineurin inhibitors such as tacrolimus in the acute postoperative period) or by facilitating opportunistic infections in the months after transplantation. Other neurologic syndromes such as akinetic mutism and osmotic demyelination may also occur. While much of this neurologic dysfunction may be reversible if related to metabolic factors or drug toxicity (and the etiology is recognized and reversed), cases of multifocal cerebral infarction, hemorrhage, or infection may have poor outcomes. As transplant patients survive longer, delayed infections (such as progressive multifocal leukoencephalopathy) and post-transplant malignancies are increasingly reported.

  6. Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology

    OpenAIRE

    Caffarelli, Carlo; Santamaria, Francesca; Di Mauro, Dora; Mastrorilli, Carla; Mirra, Virginia; Bernasconi, Sergio

    2016-01-01

    This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese chil...

  7. Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

    Directory of Open Access Journals (Sweden)

    Jonas Alex Morales Saute

    Full Text Available ABSTRACT Hematopoietic stem cell transplantation (HSCT is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD, mucopolysaccharidosis type I-Hurler (MPS-IH, and X-linked cerebral adrenoleukodystrophy (CALD. Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

  8. Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

    Directory of Open Access Journals (Sweden)

    Crinò A

    2016-07-01

    Full Text Available Antonino Crinò,1 Danilo Fintini,1 Sarah Bocchini,1 Chiara Carducci,1 Graziano Grugni,2 1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, 2Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy Abstract: Prader–Willi syndrome (PWS represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS live longer and survive to adulthood. Currently, because of the many physical and behavioral manifestations, transitional health care is not easy for these patients and is considered a very important issue. Moreover, very few studies have examined these transitional problems in young adults with PWS. In recent years, there has been great interest in improving transition planning and support for young people with PWS reaching adulthood. In this article, we underline the main clinical problems in transition and give some advice to make this period less difficult and easier for adolescents with PWS. Special attention should be paid to obesity, diabetes mellitus, hypertension, osteoporosis, and sleep apnea during the period of transition. In PWS, for an effective transition from childhood to adulthood, a multidisciplinary team is needed, and should maintain the same approach to food, environment, and psychiatric issues. For comprehensive care, it is necessary to involve adult endocrinologists and other medical specialists in conjunction with the pediatric team. Parental involvement is, however, a great help for supervising adolescents with PWS during this particular period. Keywords: Prader–Willi, transition period, intellectual disabilities

  9. Dexamethasone, Intravenous Immunoglobulin, and Rituximab Combination Immunotherapy for Pediatric Opsoclonus-Myoclonus Syndrome.

    Science.gov (United States)

    Pranzatelli, Michael R; Tate, Elizabeth D

    2017-08-01

    Although pulse-dose dexamethasone is increasingly favored for treating pediatric opsoclonus-myoclonus syndrome (OMS), and multimodal immunotherapy is associated with improved clinical response, there have been no neuroimmunologic studies of dexamethasone-based multimodal disease-modifying therapy. In this observational retrospective study, 19 children with OMS (with or without associated neuroblastoma) underwent multibiomarker evaluation for neuroinflammation. Nine children of varying OMS severity, duration, and treatment status were treated empirically with pulse dexamethasone, intravenous immunoglobulin (IVIg), and rituximab combination immunotherapy (DEXIR-CI). Another 10 children on dexamethasone alone or with IVIg at initial evaluation only provided a comparison group. Motor severity (total score) was scored rater-blinded via videotapes using the validated OMS Evaluation Scale. DEXIR-CI was associated with a 69% reduction in group total score (P = 0.004) and was clinically well tolerated. Patients given the dexamethasone combination exhibited significantly lowered B cell frequencies in cerebrospinal fluid (-94%) and blood (-76%), normalizing the cerebrospinal fluid B cell percentage. The number of patients with positive inflammatory markers dropped 87% (P = 0.002) as did the number of markers. Cerebrospinal fluid oligoclonal bands were positive in four of nine pretreatment patients but zero of six post-treatment patients. In the comparison group, partial response to dexamethasone alone or with IVIg was associated with multiple positive markers for neuroinflammation despite an average of seven months of treatment. Multimechanistic dexamethasone-based combination immunotherapy increases the therapeutic armamentarium for OMS, providing a viable option for less severely affected individuals. Partial response to dexamethasone with or without IVIg is indicative of ongoing neuroinflammation and should be treated promptly and accordingly. Copyright © 2017

  10. Task control signals in pediatric Tourette syndrome show evidence of immature and anomalous functional activity

    Directory of Open Access Journals (Sweden)

    Jessica A Church

    2009-11-01

    Full Text Available Tourette Syndrome (TS is a pediatric movement disorder that may affect control signaling in the brain. Previous work has proposed a dual-networks architecture of control processing involving a task-maintenance network and an adaptive control network (Dosenbach et al., 2008. A prior resting-state functional connectivity MRI (rs-fcMRI analysis in TS has revealed functional immaturity in both putative control networks, with “anomalous” correlations (i.e. correlations outside the typical developmental range limited to the adaptive control network (Church et al., 2009. The present study used functional MRI (fMRI to study brain activity related to adaptive control (by studying start-cues signals, and to task-maintenance (by studying signals sustained across a task set. Two hypotheses from the previous rs-fcMRI results were tested. First, adaptive control (i.e., start-cue activity will be altered in TS, including activity inconsistent with typical development (“anomalous”. Second, group differences found in task maintenance (i.e., sustained activity will be consistent with functional immaturity in TS. We examined regions found through a direct comparison of adolescents with and without TS, as well as regions derived from a previous investigation that showed differences between unaffected children and adults. The TS group showed decreased start-cue signal magnitude in regions where start-cue activity is unchanged over typical development, consistent with anomalous adaptive control. The TS group also had higher magnitude sustained signals in frontal cortex regions that overlapped with regions showing differences over typical development, consistent with immature task maintenance in TS. The results demonstrate task-related fMRI signal differences anticipated by the atypical functional connectivity found previously in adolescents with TS, strengthening the evidence for functional immaturity and anomalous signaling in control networks in adolescents

  11. Current neurology

    International Nuclear Information System (INIS)

    Appel, S.H.

    1988-01-01

    The topics covered in this book include: Duchenne muscular dystrophy: DNA diagnosis in practice; Central nervous system magnetic resonance imaging; and Magnetic resonance spectroscopy of neurologic diseases

  12. Role of flexible bronchoscopy and bronchoalveolar lavage in the diagnosis of pediatric acquired immunodeficiency syndrome-related pulmonary disease.

    Science.gov (United States)

    Birriel, J A; Adams, J A; Saldana, M A; Mavunda, K; Goldfinger, S; Vernon, D; Holzman, B; McKey, R M

    1991-06-01

    Flexible fiberoptic bronchoscopy with bronchoalveolar lavage was performed in 16 pediatric patients with the acquired immunodeficiency syndrome (AIDS) and deterioration in pulmonary function suggestive of opportunistic infection. In 62% of the patients Pneumocystis carinii was identified. Culture results showed a pure growth of Pseudomonas aeruginosa for one patient in addition to the Pneumocystis carinii. Bronchoscopy with lavage was well tolerated, with few complications even among patients with significant tachypnea and hypoxia. Because of its relative safety and effectiveness, this procedure should be considered the first invasive measurement used for evaluation of parenchymal lung disease in this population of patients.

  13. Comparison of Prevalence and Outcomes of Pediatric Acute Respiratory Distress Syndrome Using Pediatric Acute Lung Injury Consensus Conference Criteria and Berlin Definition

    Directory of Open Access Journals (Sweden)

    Samriti Gupta

    2018-04-01

    Full Text Available ObjectivesOur objective was to compare the prevalence and outcomes of pediatric acute respiratory distress syndrome using the Pediatric Acute Lung Injury Consensus Conference (PALICC criteria and Berlin definitions.MethodsWe screened case records of all children aged 1 month to 17 years of age admitted to the Pediatric Intensive Care Unit (PICU over a 3-year period (2015–2017 for presence of any respiratory difficulty at admission or during PICU stay. We applied both PALICC and Berlin criteria to these patients. Data collection included definition and outcome related variables. Data were compared between the “PALICC only group” and the “Berlin with or without PALICC” group using Stata 11.ResultsOf a total of 615 admissions, 246 were identified as having respiratory difficulty at admission or during PICU stay. A total of 61 children (prevalence 9.9%; 95% CI: 7.8–12.4 fulfilled the definition of acute respiratory distress syndrome (ARDS with either of the two criteria. While 60 children (98% fulfilled PALICC criteria, only 26 children (43% fulfilled Berlin definition. There was moderate agreement between the two definitions (Kappa: 0.51; 95% CI: 0.40–0.62; observed agreement 85%. Greater proportion of patients had severe ARDS in the “Berlin with or without PALICC group” as compared to the “PALICC only” group (50 vs. 19%. There was no difference between the groups with regard to key clinical outcomes such as duration of ventilation (7 vs. 8 days or mortality [51.4 vs. 57.7%: RR (95% CI: 0.99 (0.64–1.5].ConclusionIn comparison to Berlin definition, the PALICC criteria identified more number of patients with ARDS. Proportion with severe ARDS and complications was greater in the “Berlin with or without PALICC” group as compared to the “PALICC only” group. There were no differences in clinical outcomes between the groups.

  14. Association of Wolfram syndrome with Fallot tetralogy in a girl.

    Science.gov (United States)

    Korkmaz, Hüseyin A; Demir, Korcan; Hazan, Filiz; Yıldız, Melek; Elmas, Özlem N; Özkan, Behzat

    2016-06-01

    Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a rare neurodegenerative disorder. Mutations of the WFS1 (wolframin) on chromosome 4 are responsible for the clinical manifestations in majority of patients with Wolfram syndrome. Wolfram syndrome is also accompanied by neurologic and psychiatric disorders, urodynamic abnormalities, restricted joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotrophic hypogonadism in males and diabetic microvascular disorders. There are very limited data in the literature regarding cardiac malformations associated in children with Wolfram syndrome. A 5-year-old girl with Wolfram syndrome and tetralogy of Fallot is presented herein. Sociedad Argentina de Pediatría.

  15. Prevalence of the metabolic syndrome among North Indian adolescents using Adult Treatment Panel III and pediatric International Diabetic Federation definitions

    Directory of Open Access Journals (Sweden)

    Riyaz Ahmad Bhat

    2015-01-01

    Full Text Available Background and Objective: Childhood obesity is an important risk factor for the development of metabolic syndrome (MS in children and adolescent. Because of high prevalence of insulin resistance and MS in Indian adult population, studies are needed to identify the prevalence of these metabolic abnormalities in the adolescent population. The objective of this study was to estimate the prevalence of MS using pediatric International Diabetic Federation (IDF definition and compare it with estimates of Adult Treatment Panel III (ATP III definition among adolescents in Northern India. Materials and Methods: At a total of 899 adolescents attending school (aged 10-18 years participated in this population-based prospective study. All the clinical and biochemical assessment were done after proper consent. The MS was determined by the National Cholesterol Education Program ATP III definition modified for age and pediatric IDF definition. Results: The prevalence of MS was 3.5% according to ATP III criteria and 1.5% based on IDF criteria. No significant gender difference was observed in the distribution of MS. Hypertriglyceridemia was the most common and abdominal obesity the least common constituent of MS. Conclusion: This study provides the first estimates of MS using pediatric IDF definition in the adolescent population from Northern India.

  16. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

    Science.gov (United States)

    Siomou, Elisavet; Manolakos, Emmanouil; Petersen, Michael; Thomaidis, Loretta; Gyftodimou, Yolanda; Orru, Sandro; Papoulidis, Ioannis

    2012-11-01

    Waardenburg syndrome (WS) is a rare (1/40,000) autosomal dominant disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four clinical subtypes (WS1-S4). Six genes have been identified to be associated with the different subtypes of WS, among which SOX10, which is localized within the region 22q13.1. Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. In this study we report a case of a 13-year-old boy with a unique de novo 725 kb deletion within the 22q13.1 chromosomal region, including the SOX10 gene and presenting clinical features of a neurologic variant of WS2. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. Causes of Pediatric Cardiomyopathy

    Science.gov (United States)

    ... inherited metabolic or congenital muscle disorder such as Noonan syndrome, Pompe disease, fatty acid oxidation defect or Barth ... where a specific chromosome is deleted or duplicated. Noonan syndrome is the most common form associated with pediatric ...

  18. Treatment of complex regional pain syndrome type 1 in a pediatric patient using the lidocaine patch 5%: a case report

    Directory of Open Access Journals (Sweden)

    Steven G Frost, MD

    2003-09-01

    Full Text Available Background: Successful treatment of complex regional pain syndrome type 1 (CRPS-1 requires a coordinated, multidisciplinary approach. Physical rehabilitation is an important component of long-term treatment. Unfortunately, patients with significant allodynia or hyperalgesia characteristic of CRPS-1 often have difficulty progressing through a physical therapy (PT regimen. In most adults with CRPS-1, the treatment of choice is PO opioids. Objective: This article presents a case report of the use of the lidocaine patch 5%, a targeted peripheral analgesic, in a pediatric patient and its effects on reducing pain, improving the patient's overall attitude, and facilitating compliance with ongoing PT. Results: A 10-year-old girl developed CRPS-1 after arthroscopic surgery for a sprained ankle. Attempts at PT were unsuccessful due to inadequate pain relief from various treatment modalities. Therapy with the lidocaine patch 5% was initiated and resulted in significant pain relief, improvements in the patient's attitude, and progress with PT. Conclusion: This case report of a child with CRPS-1 showed that therapy with lidocaine patch 5% may be efficacious in treating children with pain resulting from CRPS-1, thereby increasing the success of PT. Keywords: complex regional pain syndrome, lidocaine patch 5%, targeted peripheral analgesic, pediatrics

  19. Impact of the Journal of Child Neurology: 2002 data.

    Science.gov (United States)

    Brumback, Roger A

    2003-11-01

    The Journal of Child Neurology (JCN) began in 1986 as a quarterly publication focused on child neurology and the related clinical pediatric neuroscience areas of pediatric neurosurgery, child psychiatry, pediatric neuroradiology, and developmental and behavioral pediatrics. As submitted material increased, JCN expanded in publication frequency and now appears monthly. Article quality has always been high and many articles have been frequently cited. Over the years, the ratings produced for the ISI Journal Citation Reports have identified JCN as a high-ranking pediatric journal based upon the impact factor value. Currently (year 2002 figures), JCN (with its impact factor of 1.338) ranks 24th out of 68 pediatric journals.

  20. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    Science.gov (United States)

    2014-01-01

    Background Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. Methods To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period. Results All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P = 0.026 and P = 0.003, respectively) worse for DS-ALL patients with white blood cell counts ≥50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P = 0.029). The platelet counts were lower in the DS-ALL group (P = 0.005). Abnormal karyotypes were more common in non-DS-ALL (P < 0.0001), and there was a significant difference in the modal number distribution, with only 2% high hyperdiploid DS-ALL cases (P < 0.0001). The 5-year EFS and 5-year OS were significantly worse for DS-ALL (0.574 and 0.691, respectively) compared with non-DS-ALL (0.783 and 0.894, respectively) in the NOPHO ALL-1992/2000 protocols (P < 0.001). Conclusions The present study adds further support for genetic and clinical differences between DS-ALL and non-DS-ALL. PMID:24726034

  1. Cyclic Vomiting Syndrome (CVS): is there a difference based on onset of symptoms--pediatric versus adult?

    Science.gov (United States)

    Kumar, Nilay; Bashar, Qumseya; Reddy, Naveen; Sengupta, Jyotirmoy; Ananthakrishnan, Ashwin; Schroeder, Abigail; Hogan, Walter J; Venkatesan, Thangam

    2012-05-28

    Cyclic Vomiting Syndrome (CVS) is a well-recognized functional gastrointestinal disorder in children but its presentation is poorly understood in adults. Genetic differences in pediatric-onset (presentation before age 18) and adult-onset CVS have been reported recently but their clinical features and possible differences in response to therapy have not been well studied. This was a retrospective review of 101 CVS patients seen at the Medical College of Wisconsin between 2006 and 2008. Rome III criteria were utilized to make the diagnosis of CVS. Our study population comprised of 29(29%) pediatric-onset and 72 (71%) adult-onset CVS patients. Pediatric-onset CVS patients were more likely to be female (86% vs. 57%, p = 0.005) and had a higher prevalence of CVS plus (CVS + neurocognitive disorders) as compared to adult-onset CVS patients (14% vs. 3%, p = 0.05). There was a longer delay in diagnosis (10 ± 7 years) in the pediatric-onset group when compared to (5 ± 7 years) adult-onset CVS group (p = 0.001). Chronic opiate use was less frequent in the pediatric-onset group compared to adult-onset patients (0% vs. 23%, p = 0.004). Aside from these differences, the two groups were similar with regards to their clinical features and the time of onset of symptoms did not predict response to standard treatment. The majority of patients (86%) responded to treatment with tricyclic antidepressants, anticonvulsants (topiramate), coenzyme Q-10, and L-carnitine. Non-response to therapy was associated with coalescence of symptoms, chronic opiate use and more severe disease as characterized by longer episodes, greater number of emergency department visits in the year prior to presentation, presence of disability and non-compliance on univariate analysis. On multivariate analysis, only compliance to therapy was associated with a response. (88% vs. 38%, Odds Ratio, OR 9.6; 95% Confidence Interval [CI], 1.18-77.05). Despite reported genetic differences, the clinical features and

  2. Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome

    NARCIS (Netherlands)

    Hoekman, Daniël R.; Rutten, Juliette M. T. M.; Vlieger, Arine M.; Benninga, Marc A.; Dijkgraaf, Marcel G. W.

    2015-01-01

    To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed.

  3. Molecular genetics in neurology.

    Science.gov (United States)

    Martin, J B

    1993-12-01

    There has been remarkable progress in the identification of mutations in genes that cause inherited neurological disorders. Abnormalities in the genes for Huntington disease, neurofibromatosis types 1 and 2, one form of familial amyotrophic lateral sclerosis, fragile X syndrome, myotonic dystrophy, Kennedy syndrome, Menkes disease, and several forms of retinitis pigmentosa have been elucidated. Rare disorders of neuronal migration such as Kallmann syndrome, Miller-Dieker syndrome, and Norrie disease have been shown to be due to specific gene defects. Several muscle disorders characterized by abnormal membrane excitability have been defined as mutations of the muscle sodium or chloride channels. These advances provide opportunity for accurate molecular diagnosis of at-risk individuals and are the harbinger of new approaches to therapy of these diseases.

  4. Safety and efficacy of aripiprazole for the treatment of pediatric Tourette syndrome and other chronic tic disorders.

    Science.gov (United States)

    Cox, Joanna H; Seri, Stefano; Cavanna, Andrea E

    2016-01-01

    Tourette syndrome is a childhood-onset chronic tic disorder characterized by multiple motor and vocal tics and often accompanied by specific behavioral symptoms ranging from obsessionality to impulsivity. A considerable proportion of patients report significant impairment in health-related quality of life caused by the severity of their tics and behavioral symptoms and require medical intervention. The most commonly used medications are antidopaminergic agents, which have been consistently shown to be effective for tic control, but are also associated with poor tolerability because of their adverse effects. The newer antipsychotic medication aripiprazole is characterized by a unique mechanism of action (D2 partial agonism), and over the last decade has increasingly been used for the treatment of tics. We conducted a systematic literature review to assess the available evidence on the efficacy and safety of aripiprazole in pediatric patients with Tourette syndrome and other chronic tic disorders (age range: 4-18 years). Our search identified two randomized controlled trials (involving 60 and 61 participants) and ten open-label studies (involving between six and 81 participants). The majority of these studies used two validated clinician-rated instruments (Yale Global Tic Severity Scale and Clinical Global Impression scale) as primary outcome measures. The combined results from randomized controlled trials and open-label studies showed that aripiprazole is an effective, safe, and well-tolerated medication for the treatment of tics. Aripiprazole-related adverse effects (nausea, sedation, and weight gain) were less frequent compared to other antidopaminergic medications used for tic management and, when present, were mostly transient and mild. The reviewed studies were conducted on small samples and had relatively short follow-up periods, thus highlighting a need for further trials to assess the long-term use of aripiprazole in pediatric patients with Tourette syndrome

  5. Residual neurologic sequelae after childhood cerebral malaria

    NARCIS (Netherlands)

    van Hensbroek, M. B.; Palmer, A.; Jaffar, S.; Schneider, G.; Kwiatkowski, D.

    1997-01-01

    Cerebral malaria is an important cause of pediatric hospital admissions in the tropics. It commonly leads to neurologic sequelae, but the risk factors for this remain unclear and the long-term outcome unknown. The purpose of this study was to identify the common forms of neurologic sequelae that

  6. Síndrome de Guillain Barré en pediatría Guillain-Barré syndrome in pediatrics

    Directory of Open Access Journals (Sweden)

    Ricardo Erazo Torricelli

    2009-01-01

    Full Text Available Este trabajo revisa el conocimiento actual sobre el síndrome de Guillain-Barré (SGB en niños. El SGB se define como una parálisis flácida arrefléxica aguda y se clasifica en 4 subgrupos: polirradiculopatía aguda inflamatoria desmielinizante (AIDP, neuropatía axonal sensitivo-motora aguda (AMSAN, neuropatía axonal motora aguda (AMAN y síndrome de Miller-Fisher (SMF. La AIDP se asocia en un 30-50% a compromiso de pares craneales, lo cual no se observa en la AMAN. El SMF se caracteriza por ataxia, oftalmoplejía y arreflexia, pero puede presentar también compromiso de pares craneales. Datos recientes de la anatomía patológica y la fisiopatología del SGB destacan la importancia de la infección por Campylobacter jejuni en la generación de anticuerpos anti-gangliósidos (GM1 en AIDP, GQ1b en SMF y GD1a en AMAN que lesionan la mielina en AIDP y SMF y el axón en AMAN. El diagnóstico diferencial debe descartar enfermedades del sistema nervioso central (SNC (encefalitis, encefalomielitis, mielitis, síndromes miasténicos, neuropatías tóxicas por metales pesados, fármacos, substancias químicas o toxinas animales y cuadros miopáticos, especialmente la miositis aguda infecciosa benigna y la neuromiopatía del paciente en la unidad de cuidados intensivos. Es importante el tratamiento con inmunoglobulina en dosis total de 2 gramos por kilogramo a administrar en 48 horas. La plasmaféresis puede ser igualmente eficaz. El SGB tiene buen pronóstico en niños, con una recuperación total en el 85% de los casos. La rehabilitación es fundamental para lograr una recuperación más rápida e integral.This paper reviews the current knowledge about Guillain- Barré syndrome (GBS. GBS is defined as an acute, areflexic, flaccid paralysis, which is classified into 4 subgroups: acute inflammatory demyelinating polyneuropathy (AIDP, acute motor-sensory axonal neuropathy (AMSAN, acute motor axonal neuropathy (AMAN and Miller-Fisher syndrome (MFS

  7. [Neurology and literature].

    Science.gov (United States)

    Iniesta, I

    2010-10-01

    Literature complements medical literature in the academic and clinical development of neurologists. The present article explores the contributions of writers of fiction on neurology. Literary works of fiction with particular reference to neurology. A symbiosis between writers of fiction and doctors has been well recognised. From Shakespeare to Cervantes by way of Dickens and Cela to writer - physicians such as Anton Chekhov or António Lobo Antunes have contributed through their medically informed literature to the better understanding of neurology. Some writers like Dostoevsky, Machado de Assis and Margiad Evans have written about their own experiences with disease thus bringing new insights to medicine. Furthermore, some neurological disorders have been largely based on literary descriptions. For instance, Dostoevsky's epilepsy has been retrospectively analysed by famous neurologists including Freud, Alajouanine or Gastaut, whilst his writings and biography have prompted others like Waxman and Geschwind to describe typical behavioural changes in temporal lobe epilepsy, finding their source of inspiration in Dostoevsky. Likewise, Cirignotta et al have named an unusual type of seizure after the Russian novelist. Inspired by Lewis Carroll, Todd introduced the term Alice in Wonderland Syndrome to refer to visual distortions generally associated with migraine. Writers of fiction offer a humanised perception of disease by contributing new insights into the clinical history, informing about the subjective experience of the illness and helping to eradicate the stigma associated to neurological disorders.

  8. Symptoms and Syndromes of Bodily Distress: An Exploratory Study of 978 Internal Medical, Neurological, and Primary Care Patients

    DEFF Research Database (Denmark)

    Fink, Per; Toft, Tomas; Hansen, Morten Steen

    2007-01-01

    OBJECTIVE: Physical complaints not attributable to verifiable, conventionally defined diseases, i.e., medically unexplained or functional somatic symptoms, are prevalent in all medical settings, but their classification is contested as numerous overlapping diagnoses and syndrome labels have been...... using the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) diagnostic instrument. RESULTS: Patients complained of a median of five functional somatic symptoms; women of six, men of four (p ... component factor analysis identified a cardiopulmonary including autonomic (CP), a musculoskeletal (MS), and a gastrointestinal (GI) symptom group explaining 36.9% of the variance. Latent class analysis showed that the symptom groups are likely to materialize in the same patients, suggesting...

  9. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report

    OpenAIRE

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-01-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn ...

  10. Anesthetic management in a pediatric patient with Noonan syndrome, hypopituitarism and hypothyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Abdulkadir Yektaş

    2013-06-01

    Full Text Available Noonan syndrome is a genetically transmitted autosomaldominant disorder characterized by various anatomicanomalies and pathophysiologic derangements. Associatedanomalies include hyperthelorism, ptosis, micrognathia,downward sloping palpebral fissures, low-set ears,abnormal helix of ear, deeply grooved philtrum, short and/or webbed neck, low hairline and cervical vertebral anomalies.Patients with Noonan syndrome are known to presentwith challenging airways. Tracheal intubation can bedifficult because of airway and cervical vertebral anomaliesand bag mask ventilation may be difficult because ofasymmetrical face. We present a case of anesthetic managementfor Noonan syndrome. J Clin Exp Invest 2013;4 (2: 238-241Key words: Anesthesia, general, noonan syndrome, airwaymanagement

  11. Adult neurology training during child neurology residency.

    Science.gov (United States)

    Schor, Nina F

    2012-08-21

    As it is currently configured, completion of child neurology residency requires performance of 12 months of training in adult neurology. Exploration of whether or not this duration of training in adult neurology is appropriate for what child neurology is today must take into account the initial reasons for this requirement and the goals of adult neurology training during child neurology residency.

  12. Case Study of High-Dose Ketamine for Treatment of Complex Regional Pain Syndrome in the Pediatric Intensive Care Unit.

    Science.gov (United States)

    Pasek, Tracy Ann; Crowley, Kelli; Campese, Catherine; Lauer, Rachel; Yang, Charles

    2017-06-01

    Complex regional pain syndrome (CRPS) is a life-altering and debilitating chronic pain condition. The authors are presenting a case study of a female who received high-dose ketamine for the management of her CRPS. The innovative treatment lies not only within the pharmacologic management of her pain, but also in the fact that she was the first patient to be admitted to our pediatric intensive care unit solely for pain control. The primary component of the pharmacotherapy treatment strategy plan was escalating-dose ketamine infusion via patient-controlled-analgesia approved by the pharmacy and therapeutics committee guided therapy for this patient. The expertise of advanced practice nurses blended exquisitely to ensure patient and family-centered care and the coordination of care across the illness trajectory. The patient experienced positive outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. The Prevalence of Hypomagnesaemia in Pediatric Patients with Mitral Valve Prolapse Syndrome and the Effect of Mg Therapy

    Directory of Open Access Journals (Sweden)

    Hamid Amoozgar

    2012-09-01

    Full Text Available Background: A paucity of data exists regarding the prevalence and relationship of hypomagnesaemia with clinical symptoms of mitral valve prolapse (MVP in pediatric patients. Objective: In this study we evaluated the prevalence of magnesium (Mg deficiency in pediatric patients with MVP syndrome and attempted to clarify the effect of Mg therapy on alleviating their symptoms. Methods: The present study was conducted from April 2010 to January 2012, and included 230 patients (90 males and 140 females with symptoms of mitral valve prolapse and mean age of 11.6±3.66. Serum magnesium (Mg level less than 1.5 mg/dl was defined as hypomagnesaemia. Patients with 2 mm leaflet displacement and maximum leaflet thickness of 5 mm in echocardiography were considered to have classic MVP, while those with leaflet thickness less than 5 mm were considered as non-classic MVP. Patients with hypomagnesaemia were orally treated with 4.5 mg/kg/day Mg chloride for 5 weeks followed by re-evaluation of symptoms of chest pain, palpitation, fatigue and dyspnea. Results: Hypomagnesaemia was found in 19 (8.2 % of 230 patients with mitral valve prolapse. The re-evaluation of patients with Hypomagnesaemia after 5 weeks of Mg therapy, showed statistically significant relief of chest pain (P=0.01. However, no significant changes was detected in regard to palpitation (P=0.06, fatigue (P= 0.5 and dyspnea (P=0.99. Conclusion: This study revealed that the prevalence of hypomagnesaemia in pediatric patients with mitral valve prolapse is relatively low compared to adults, but treatment with oral Mg in patient with hypomagnesaemia decreases chest pain.

  14. Pediatric suppositories of sulpiride solid dispersion for treatment of Tourette syndrome: in vitro and in vivo investigations.

    Science.gov (United States)

    Zidan, Ahmed S; Emam, Sherif E; Shehata, Tamer M; Ghazy, Fakhr-eldin S

    2015-06-01

    Pharmaceutical development was adopted in the current study to propose a pediatric rectal formulation of sulpiride as a substitute to the available oral or parenteral formulations in the management of Tourette syndrome (TS). The goal was to formulate a product that is easy to use, stable, and highly bioavailable and to achieve a rapid clinical efficacy. Towards this aim, sulpiride solid dispersion (SD) with tartaric acid at a weight ratio of 1:0.25 was incorporated into different suppository bases, namely witepsol W25, witepsol H15, witepsol E75, suppocire NA, suppocire A, glycerogelatin, and polyethylene glycols. The formulae were evaluated in vitro using different pharmacotechnical methods such as visual, melting, weight and content uniformities, drug release, differential scanning calorimetry (DSC), Fourier transform infrared (FTIR), and X-ray diffraction (XRD) analyses. In vivo bioavailability was also assessed in rabbits to compare the bioavailability of either raw sulpiride-incorporated or its SD-incorporated witepsol H15-based suppositories to its oral suspension (reference). Sulpiride SD-incorporated witepsol H15 formulation showed acceptable in vitro characteristics with a bioavailability of 117% relative to oral dosing, which excel that in humans (27% after dosing of oral product). In addition, the proposed formula not only passed the 6-month stability study but also proposed a promising scale-up approach. Hence, it showed a great potential for pediatric product development to manage TS in rural areas.

  15. Coagulation Profile Dynamics in Pediatric Patients with Cushing Syndrome: A Prospective, Observational Comparative Study

    NARCIS (Netherlands)

    Birdwell, L. (Leah); M.B. Lodish (Maya Beth); Tirosh, A. (Amit); P. Chittiboina (Prashant); M. Keil (Mark); Lyssikatos, C. (Charlampos); Belyavskaya, E. (Elena); R.A. Feelders (Richard); C.A. Stratakis (Constantine)

    2016-01-01

    textabstractObjective To evaluate the association between Cushing syndrome and hypercoagulability in children. Study design A prospective, observational study was performed of 54 patients with Cushing syndrome, 15.1 ± 3.9 years, treated at the National Institutes of Health Clinical Center.

  16. Acute Activation of Metabolic Syndrome Components in Pediatric Acute Lymphoblastic Leukemia Patients Treated with Dexamethasone

    NARCIS (Netherlands)

    Warris, Lidewij T.; van den Akker, Erica L. T.; Bierings, Marc B.; van den Bos, Cor; Zwaan, Christian M.; Sassen, Sebastiaan D. T.; Tissing, Wim J. E.; Veening, Margreet A.; Pieters, Rob; van den Heuvel-Eibrink, Marry M.

    2016-01-01

    Although dexamethasone is highly effective in the treatment of pediatric acute lymphoblastic leukemia (ALL), it can cause serious metabolic side effects. Because studies regarding the effects of dexamethasone are limited by their small scale, we prospectively studied the direct effects of treating

  17. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report.

    Science.gov (United States)

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-09-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

  18. Pediatric Miller Fisher Syndrome Complicating an Epstein-Barr Virus Infection.

    Science.gov (United States)

    Communal, Céline; Filleron, Anne; Baron-Joly, Sandrine; Salet, Randa; Tran, Tu-Anh

    2016-10-01

    Miller Fisher syndrome, a variant of Guillain-Barré syndrome, is an acute inflammatory demyelinating polyradiculoneuropathy that may occur weeks after a bacterial or viral infection. Campylobacter jejuni and Haemophilus influenzae are frequently reported etiological agents. We describe a boy with Miller Fisher syndrome following Epstein-002DBarr virus primary infectious mononucleosis. He presented with bilateral dysfunction of several cranial nerves and hyporeflexia of the limbs but without ataxia. Miller Fisher syndrome was confirmed by the presence of anti-GQ1b antibodies in a blood sample. Epstein-Barr virus was identified by polymerase chain reaction and serology. Epstein-Barr virus should be considered as a Miller Fisher syndrome's causative agent. The physiopathology of this condition may involve cross-reactive T-cells against Epstein-Barr virus antigens and gangliosides. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Role of Monocyte/Macrophages during HIV/SIV Infection in Adult and Pediatric Acquired Immune Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Kristen M. Merino

    2017-12-01

    Full Text Available Monocytes/macrophages are a diverse group of cells that act as first responders in innate immunity and then as mediators for adaptive immunity to help clear infections. In performing these functions, however, the macrophage inflammatory responses can also contribute to pathogenesis. Various monocyte and tissue macrophage subsets have been associated with inflammatory disorders and tissue pathogeneses such as occur during HIV infection. Non-human primate research of simian immunodeficiency virus (SIV has been invaluable in better understanding the pathogenesis of HIV infection. The question of HIV/SIV-infected macrophages serving as a viral reservoir has become significant for achieving a cure. In the rhesus macaque model, SIV-infected macrophages have been shown to promote pathogenesis in several tissues resulting in cardiovascular, metabolic, and neurological diseases. Results from human studies illustrated that alveolar macrophages could be an important HIV reservoir and humanized myeloid-only mice supported productive HIV infection and viral persistence in macrophages during ART treatment. Depletion of CD4+ T cells is considered the primary cause for terminal progression, but it was reported that increasing monocyte turnover was a significantly better predictor in SIV-infected adult macaques. Notably, pediatric cases of HIV/SIV exhibit faster and more severe disease progression than adults, yet neonates have fewer target T cells and generally lack the hallmark CD4+ T cell depletion typical of adult infections. Current data show that the baseline blood monocyte turnover rate was significantly higher in neonatal macaques compared to adults and this remained high with disease progression. In this review, we discuss recent data exploring the contribution of monocytes and macrophages to HIV/SIV infection and progression. Furthermore, we highlight the need to further investigate their role in pediatric cases of infection.

  20. Pediatric fibromyalgia.

    Science.gov (United States)

    Buskila, Dan

    2009-05-01

    Fibromyalgia is an idiopathic chronic pain syndrome defined by widespread nonarticular musculoskeletal pain and generalized tender points. The syndrome is associated with a constellation of symptoms, including fatigue, nonrefreshing sleep, irritable bowel, and more. Central nervous system sensitization is a major pathophysiologic aspect of fibromyalgia; in addition, various external stimuli such as trauma and stress may contribute to development of the syndrome. Fibromyalgia is most common in midlife, but may be seen at any age. This article reviews the epidemiology, clinical characteristics, etiology, management, and outcome of pediatric fibromyalgia.

  1. {sup 18}F-fluorodeoxyglucose positron emission tomography in the diagnosis of malignancy in patients with paraneoplastic neurological syndrome: a systematic review and meta-analysis

    Energy Technology Data Exchange (ETDEWEB)

    Garcia Vicente, Ana Maria [University General Hospital, Nuclear Medicine Department, Ciudad Real (Spain); Delgado-Bolton, Roberto C. [University of La Rioja, Department of Diagnostic Imaging (Radiology) and Nuclear Medicine, San Pedro Hospital and Centre for Biomedical Research of La Rioja (CIBIR), Logrono (Spain); Amo-Salas, Mariano [University of Castilla-La Mancha, Department of Mathematics, Ciudad Real (Spain); Lopez-Fidalgo, Jesus [Universidad de Navarra, ICS, Unidad de Estadistica, Campus Universitario, Pamplona (Spain); Caresia Aroztegui, Ana Paula [Parc Tauli Hospital Universitari, Nuclear Medicine Department, Sabadell, Barcelona (Spain); Garcia Garzon, Jose Ramon [Unitat PET/TC CETIR-ERESA, Barcelona (Spain); Orcajo Rincon, Javier [Hospital General Universitario Gregorio Maranon, Nuclear Medicine Department, Madrid (Spain); Garcia Velloso, Maria Jose [Clinica Universidad de Navarra, Nuclear Medicine Department, Pamplona (Spain); Arcocha Torres, Maria de [Hospital Universitario Marques de Valdecilla, Nuclear Medicine Department, Santander (Spain); Alvarez Ruiz, Soledad [Hospital Universitario Miguel Servet, Nuclear Medicine Department, Zaragoza (Spain); Collaboration: On behalf of the Oncology Task Force of Spanish Society of Nuclear Medicine and Molecular Imaging

    2017-08-15

    The detection of occult cancer in patients suspected of having a paraneoplastic neurological syndrome (PNS) poses a diagnostic challenge. The aim of our study was to perform a systematic review and meta-analysis to assess the diagnostic performance of FDG PET for the detection of occult malignant disease responsible for PNS. A systematic review of the literature (MEDLINE, EMBASE, Cochrane, and DARE) was undertaken to identify studies published in any language. The search strategy was structured after addressing clinical questions regarding the validity or usefulness of the test, following the PICO framework. Inclusion criteria were studies involving patients with PNS in whom FDG PET was performed to detect malignancy, and which reported sufficient primary data to allow calculation of diagnostic accuracy parameters. When possible, a meta-analysis was performed to calculate the joint sensitivity, specificity, and detection rate for malignancy (with 95% confidence intervals [CIs]), as well as a subgroup analysis based on patient characteristics (antibodies, syndrome). The comprehensive literature search revealed 700 references. Sixteen studies met the inclusion criteria and were ultimately selected. Most of the studies were retrospective (12/16). For the quality assessment, the QUADAS-2 tool was applied to assess the risk of bias. Across 16 studies (793 patients), the joint sensitivity, specificity, and detection rate for malignancy with FDG PET were 0.87 (95% CI: 0.80-0.93), 0.86 (95% CI: 0.83-0.89), and 14.9% (95% CI: 11.5-18.7), respectively. The area under the curve (AUC) of the summary ROC curve was 0.917. Homogeneity of results was observed for sensitivity but not for specificity. Some of the individual studies showed large 95% CIs as a result of small sample size. The results of our meta-analysis reveal high diagnostic performance of FDG PET in the detection of malignancy responsible for PNS, not affected by the presence of onconeural antibodies or clinical

  2. "1"8F-fluorodeoxyglucose positron emission tomography in the diagnosis of malignancy in patients with paraneoplastic neurological syndrome: a systematic review and meta-analysis

    International Nuclear Information System (INIS)

    Garcia Vicente, Ana Maria; Delgado-Bolton, Roberto C.; Amo-Salas, Mariano; Lopez-Fidalgo, Jesus; Caresia Aroztegui, Ana Paula; Garcia Garzon, Jose Ramon; Orcajo Rincon, Javier; Garcia Velloso, Maria Jose; Arcocha Torres, Maria de; Alvarez Ruiz, Soledad

    2017-01-01

    The detection of occult cancer in patients suspected of having a paraneoplastic neurological syndrome (PNS) poses a diagnostic challenge. The aim of our study was to perform a systematic review and meta-analysis to assess the diagnostic performance of FDG PET for the detection of occult malignant disease responsible for PNS. A systematic review of the literature (MEDLINE, EMBASE, Cochrane, and DARE) was undertaken to identify studies published in any language. The search strategy was structured after addressing clinical questions regarding the validity or usefulness of the test, following the PICO framework. Inclusion criteria were studies involving patients with PNS in whom FDG PET was performed to detect malignancy, and which reported sufficient primary data to allow calculation of diagnostic accuracy parameters. When possible, a meta-analysis was performed to calculate the joint sensitivity, specificity, and detection rate for malignancy (with 95% confidence intervals [CIs]), as well as a subgroup analysis based on patient characteristics (antibodies, syndrome). The comprehensive literature search revealed 700 references. Sixteen studies met the inclusion criteria and were ultimately selected. Most of the studies were retrospective (12/16). For the quality assessment, the QUADAS-2 tool was applied to assess the risk of bias. Across 16 studies (793 patients), the joint sensitivity, specificity, and detection rate for malignancy with FDG PET were 0.87 (95% CI: 0.80-0.93), 0.86 (95% CI: 0.83-0.89), and 14.9% (95% CI: 11.5-18.7), respectively. The area under the curve (AUC) of the summary ROC curve was 0.917. Homogeneity of results was observed for sensitivity but not for specificity. Some of the individual studies showed large 95% CIs as a result of small sample size. The results of our meta-analysis reveal high diagnostic performance of FDG PET in the detection of malignancy responsible for PNS, not affected by the presence of onconeural antibodies or clinical

  3. Pediatric Electrocardiographic Imaging (ECGI) Applications

    Science.gov (United States)

    Silva, Jennifer N. A.

    2014-01-01

    Summary Noninvasive electrocardiographic imaging (ECGI) has been used in pediatric and congenital heart patients to better understand their electrophysiologic substrates. In this article we focus on the 4 subjects related to pediatric ECGI: 1) ECGI in patients with congenital heart disease and Wolff-Parkinson-White syndrome, 2) ECGI in patients with hypertrophic cardiomyopathy and pre-excitation, 3) ECGI in pediatric patients with Wolff-Parkinson-White syndrome, and 4) ECGI for pediatric cardiac resynchronization therapy. PMID:25722754

  4. Pediatric MS

    Science.gov (United States)

    ... Pediatric MS Share this page Facebook Twitter Email Pediatric MS Pediatric MS Pediatric MS Support Pediatric Providers ... system through the Pediatric MS Support Group . Treating pediatric MS In 2018 the U.S. Food and Drug ...

  5. Neurological manifestation of colonic adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Uzair Chaudhary

    2012-04-01

    Full Text Available Paraneoplastic neurologic disorders are extremely rare in cancer patients and are most commonly associated with certain tumors, such as ovarian cancer, small cell lung cancer, and breast cancer. We report here a paraneoplastic neurological syndrome in a 53-year-old man with colonic adenocarcinoma with a solitary liver metastasis. His paraneoplastic syndrome was successfully treated by methylprednisolone and primary oncologic therapies including neoadjuvant chemotherapy and definitive surgery. This is also the first documented case of simultaneous manifestation of a sensory neuropathy and limbic encephalitis with colon cancer.

  6. Upregulation of Shiga toxin receptor CD77/Gb3 and interleukin-1β expression in the brain of EHEC patients with hemolytic uremic syndrome and neurologic symptoms.

    Science.gov (United States)

    Hagel, Christian; Krasemann, Susanne; Löffler, Judith; Püschel, Klaus; Magnus, Tim; Glatzel, Markus

    2015-03-01

    In 2011, a large outbreak of Shiga toxin-producing enterohemorrhagic Escherichia coli (EHEC) infections occurred in northern Germany, which mainly affected adults. Out of 3842 patients, 104 experienced a complicated course comprising hemolytic uremic syndrome and neurological complications, including cognitive impairment, aphasia, seizures and coma. T2 hyperintensities on magnet resonance imaging (MRI) bilateral in the thalami and in the dorsal pons were found suggestive of a metabolic toxic effect. Five of the 104 patients died because of toxic heart failure. In the present study, the post-mortem neuropathological findings of the five EHEC patients are described. Histological investigation of 13 brain regions (frontal, temporal, occipital cortex, corpora mammillaria, thalamus, frontal operculum, corona radiata, gyrus angularis, pons, medulla oblongata, cerebellar vermis and cerebellar hemisphere) showed no thrombosis, ischemic changes or fresh infarctions. Further, no changes were found in electron microscopy. In comparison with five age-matched controls, slightly increased activation of microglia and a higher neuronal expression of interleukin-1β and of Shiga toxin receptor CD77/globotriaosylceramide 3 was observed. The findings were confirmed by Western blot analyses. It is suggested that CD77/globotriaosylceramide upregulation may be a consequence to Shiga toxin exposure, whereas increased interleukin-1β expression may point to activation of inflammatory cascades. © 2014 International Society of Neuropathology.

  7. Pediatric irritable bowel syndrome and other functional abdominal pain disorders: an update of non-pharmacological treatments.

    Science.gov (United States)

    Gupta, Shivani; Schaffer, Gilda; Saps, Miguel

    2018-05-01

    Functional abdominal pain disorders, including irritable bowel syndrome, are common in children and treatment can often be difficult. Pharmacological therapies and complementary treatments are widely used, despite the limited data in pediatrics. Areas covered: This review provides an overview of the available data for the use of diet, probiotics, percutaneous electrical nerve stimulation, and psychosocial interventions, including hypnotherapy, yoga, cognitive and behavioral therapy, and mind-body interventions for the treatment of functional abdominal pain disorders in children. The literature review included a PubMed search by each therapy, children, abdominal pain, and irritable bowel syndrome. Relevant articles to this review are discussed. Expert commentary: The decision on the use of pharmacological and complementary therapies should be based on clinical findings, evidence, availability, and in-depth discussion with the patient and family. The physician should provide education on the different interventions and their role on the treatment in an empathetic and warm manner providing ample time for the family to ask questions.

  8. Evidence-based guideline: treatment of tardive syndromes: report of the Guideline Development Subcommittee of the American Academy of Neurology.

    Science.gov (United States)

    Bhidayasiri, Roongroj; Fahn, Stanley; Weiner, William J; Gronseth, Gary S; Sullivan, Kelly L; Zesiewicz, Theresa A

    2013-07-30

    To make evidence-based recommendations regarding management of tardive syndromes (TDS), including tardive dyskinesias (TDD), by addressing 5 questions: 1) Is withdrawal of dopamine receptor blocking agents (DRBAs) an effective TDS treatment? 2) Does switching from typical to atypical DRBAs reduce TDS symptoms? 3) What is the efficacy of pharmacologic agents in treating TDS? 4) Do patients with TDS benefit from chemodenervation with botulinum toxin? 5) Do patients with TDS benefit from surgical therapy? PsycINFO, Ovid MEDLINE, EMBASE, Web of Science, and Cochrane were searched (1966-2011). Articles were classified according to a 4-tiered evidence-rating scheme; recommendations were tied to the evidence. Clonazepam probably improves TDD and ginkgo biloba probably improves TDS (both Level B); both should be considered as treatment. Risperidone may improve TDS but cannot be recommended as treatment because neuroleptics may cause TDS despite masking symptoms. Amantadine and tetrabenazine might be considered as TDS treatment (Level C). Diltiazem should not be considered as TDD treatment (Level B); galantamine and eicosapentaenoic acid may not be considered as treatment (Level C). Data are insufficient to support or refute use of acetazolamide, bromocriptine, thiamine, baclofen, vitamin E, vitamin B6, selegiline, clozapine, olanzapine, melatonin, nifedipine, fluperlapine, sulpiride, flupenthixol, thiopropazate, haloperidol, levetiracetam, quetiapine, ziprasidone, sertindole, aripiprazole, buspirone, yi-gan san, biperiden discontinuation, botulinum toxin type A, electroconvulsive therapy, α-methyldopa, reserpine, and pallidal deep brain stimulation as TDS treatments (Level U). Data are insufficient to support or refute TDS treatment by withdrawing causative agents or switching from typical to atypical DRBA (Level U).

  9. Using information technology and social networking for recruitment of research participants: experience from an exploratory study of pediatric Klinefelter syndrome.

    Science.gov (United States)

    Close, Sharron; Smaldone, Arlene; Fennoy, Ilene; Reame, Nancy; Grey, Margaret

    2013-03-19

    Recruiting pediatric samples for research may be challenging due to parental mistrust of the research process, privacy concerns, and family time constraints. Recruitment of children with chronic and genetic conditions may further complicate the enrollment process. In this paper, we describe the methodological challenges of recruiting children for research and provide an exemplar of how the use of information technology (IT) strategies with social networking may improve access to difficult-to-reach pediatric research participants. We conducted a cross-sectional descriptive study of boys between the ages of 8 and 18 years with Klinefelter syndrome. This study presented unique challenges for recruitment of pediatric participants. These challenges are illustrated by the report of recruitment activities developed for the study. We reviewed the literature to explore the issues of recruiting children for research using conventional and IT approaches. Success rates of conventional recruitment approaches, such as brochures, flyers in medical offices, and physician referrals, are compared with IT-based outreach. The IT approaches included teleconferencing via a Klinefelter syndrome support group, services of a Web-based commercial recruitment-matching company, and the development of a university-affiliated research recruitment website with the use of paid advertising on a social networking website (Facebook). Over a 3-month period, dissemination of over 150 recruitment brochures and flyers placed in a large urban hospital and hospital-affiliated clinical offices, with 850 letters to physicians and patients were not successful. Within the same period, face-to-face recruitment in the clinical setting yielded 4 (9%) participants. Using Web-based and social networking approaches, 39 (91%) agreed to participate in the study. With these approaches, 5 (12%) were recruited from the national Klinefelter syndrome advocacy group, 8 (19%) from local and teleconference support groups, 10

  10. Neurologic disorders

    International Nuclear Information System (INIS)

    Chakeres, D.W.

    1987-01-01

    There is a wide range of indications for radiographic evaluation of possible cerebrovascular disease, since a wide range of neurologic symptoms can be encountered secondary to ischemia. Frequently the diagnosis of cerebrovascular disease is clear on clinical grounds, but radiographic evaluation is essential both to quantify the extent of disease and establish the underlying cause (e.g., vasculitis, embolus) while excluding other causes so that the proper therapy can follow

  11. Post dengue neurological complication

    Directory of Open Access Journals (Sweden)

    Hizlinda Tohid

    2015-12-01

    Full Text Available Dengue infection is highly endemic in many tropical countries including Malaysia. However, neurological complications arising from dengue infection is not common; Gullain–Barre syndrome (GBS is one of these infrequent complications. In this paper, we have reported a case in which a 39-year-old woman presented with a neurological complication of dengue infection without typical symptoms and signs of dengue fever. She had a history of acute gastroenteritis (AGE followed by an upper respiratory tract infection (URTI weeks prior to her presentation rendering GBS secondary to the post viral URTI and AGE as the most likely diagnosis. Presence of thrombocytopenia was the only clue for dengue in this case.

  12. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  13. Young children with functional abdominal pain (FAP) and irritable bowel syndrome (IBS) followed in pediatric gastroenterology (PED-GI) vs primary pediatric care (PED): Differences in outcomes

    Science.gov (United States)

    The American Academy of Pediatrics suggests that children with recurrent abdominal pain without alarm signs be managed in pediatric rather than specialty care. However, many of these children are seen in tertiary care. In a longitudinal examination of physical and psychological symptoms, we hypothes...

  14. Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide

    OpenAIRE

    Saneto, Russell P; Anderson, Gail D

    2009-01-01

    Russell P Saneto1, Gail D Anderson21Division of Pediatric Neurology, Seattle Children’s Hospital/University of Washington, Seattle, Washington, USA; 2Department of Pharmacy, University of Washington, Seattle, Washington, USAAbstract: Lennox-Gaustaut syndrome is an electroclinical epilepsy syndrome characterized by the triad of electroencephalogram showing diffuse slow spike-and-wave discharges and paroxysmal fast activity, multiple intractable seizure types, and cognitive impairment...

  15. [Neurological and neuropsychological comparison between subjects with learning disorder and those suffering from learning difficulties when eeg abnormalities are detected at pediatric age].

    Science.gov (United States)

    Borsetti, L; Viberti, B; Ariano, C; Isocrono, A

    2015-12-01

    The objective of the study is to compare data and investigate the points of overlap between the two clinical conditions. The hypothesis is to observe a similar cognitive and neuropsychological profile in LD children and subjects with electroencephalogram (EEG) abnormalities. The present study consists of a descriptive analysis of 35 children who have been tested for suspected learning disorder (LD). The diagnostic protocol includes a detailed cognitive and neuropsychological evaluation, as well as logopedic and neuropsychomotor assessment. Children carried neurological visit, EEG in waking and encephalic nuclear magnetic resonance (NMR). In this study, anamnestic data and the results of some of the neuropsychological tests were administrated to children and subsequently were analyzed. Depending on EEG report (positive or negative), subjects were split in two subsample: subjects with "pure" LD and subjects who showed significant paroxysmal abnormalities at the EEG. This comparison shows that the profile of the two subsamples matches for many aspects. The only statistically significant differences are the increased impairment of meta-phonological skills and reading speed in children with EEG abnormalities. On the other hand, children with "pure" LD are inclined to manifest more frequently difficulties in highly-modularized processes, such as counting. In conclusion, the substantial overlap of the two profiles causes a reflection about the difficulty in making differential diagnosis in children who show a suspected LD, in absence of an accurate neurophysiological and neuroradiological investigation. The study did not find out useful markers to select subjects who should carry EEG and encephalic NMR. Our team established to keep EEG in waking in the diagnostic protocol, for all children with LD diagnosis. Only in case of abnormalities at the track, we prescribed EEG in sleeping and encephalic NMR.

  16. Is Exercise Stress Testing a Cost-Saving Strategy For Risk Assessment of Pediatric Wolff-Parkinson-White Syndrome Patients?

    Science.gov (United States)

    Moltedo, Jose M.; Iyer, Ramesh V.; Forman, Howard; Fahey, John; Rosenthal, Geoffrey; Snyder, Christopher S.

    2006-01-01

    Background: In Wolff-Parkinson-White syndrome (WPW) patients the loss of pre-excitation in a single heartbeat during exercise stress testing (EST) is a predictor of low risk of sudden death. The purpose of this study was to: 1) assess the frequency of loss of pre-excitation in a single heartbeat during exercise testing, and 2) compare the cost of EST versus trans-catheter electrophysiology study (EPS) in the risk assessment of WPW patients. Methods: A retrospective review of 50 cases of patients with WPW who underwent EST was conducted including demographics, history of supraventricular tachycardia, associated congenital heart disease, maximum heart rate achieved, and loss of pre-excitation in a single heartbeat. Hospital costs of EST and EPS were compared. Results: Of the 50 patients who underwent EST, 4 (8%), lost pre-excitation in a single heartbeat during EST. No differences were found regarding gender, age at diagnosis or EST, history of supraventricular tachycardia, presence of congenital heart disease or maximal heart rate. A cost comparison, utilizing the cost data: EST ($62.75) and EPS ($5,597) found EST to be a cost-saving approach in WPW patients. With 4 patients losing pre-excitation during EST, the cost saving of EST was $22,388 for this population of WPW patients. Conclusions: A frequency of 8% loss of pre-excitation was found in a pediatric sample that underwent EST. Additionally, EST was shown to be a cost-saving strategy in risk assessment of pediatric WPW patients. PMID:21845141

  17. Brief Report: CANTAB Performance and Brain Structure in Pediatric Patients with Asperger Syndrome

    Science.gov (United States)

    Kaufmann, Liane; Zotter, Sibylle; Pixner, Silvia; Starke, Marc; Haberlandt, Edda; Steinmayr-Gensluckner, Maria; Egger, Karl; Schocke, Michael; Weiss, Elisabeth M.; Marksteiner, Josef

    2013-01-01

    By merging neuropsychological (CANTAB/Cambridge Neuropsychological Test Automated Battery) and structural brain imaging data (voxel-based-morphometry) the present study sought to identify the neurocognitive correlates of executive functions in individuals with Asperger syndrome (AS) compared to healthy controls. Results disclosed subtle group…

  18. Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

    DEFF Research Database (Denmark)

    Lundin, Catarina; Forestier, Erik; Klarskov Andersen, Mette

    2014-01-01

    BACKGROUND: Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL. METHODS...

  19. Neurological manifestations of influenza infection in children and adults: results of a National British Surveillance Study.

    Science.gov (United States)

    Goenka, Anu; Michael, Benedict D; Ledger, Elizabeth; Hart, Ian J; Absoud, Michael; Chow, Gabriel; Lilleker, James; Lunn, Michael; McKee, David; Peake, Deirdre; Pysden, Karen; Roberts, Mark; Carrol, Enitan D; Lim, Ming; Avula, Shivaram; Solomon, Tom; Kneen, Rachel

    2014-03-01

    The emergence of influenza A(H1N1) 2009 was met with increased reports of associated neurological manifestations. We aimed to describe neurological manifestations of influenza in adults and children in the United Kingdom that presented at this time. A 2-year surveillance study was undertaken through the British adult and pediatric neurological surveillance units from February 2011. Patients were included if they met clinical case definitions within 1 month of proven influenza infection. Twenty-five cases were identified: 21 (84%) in children and 4 (16%) in adults. Six (29%) children had preexisting neurological disorders. Polymerase chain reaction of respiratory secretions identified influenza A in 21 (81%; 20 of which [95%] were H1N1) and influenza B in 4 (15%). Twelve children had encephalopathy (1 with movement disorder), 8 had encephalitis, and 1 had meningoencephalitis. Two adults had encephalopathy with movement disorder, 1 had encephalitis, and 1 had Guillain-Barré syndrome. Seven individuals (6 children) had specific acute encephalopathy syndromes (4 acute necrotizing encephalopathy, 1 acute infantile encephalopathy predominantly affecting the frontal lobes, 1 hemorrhagic shock and encephalopathy, 1 acute hemorrhagic leukoencephalopathy). Twenty (80%) required intensive care, 17 (68%) had poor outcome, and 4 (16%) died. This surveillance study described a cohort of adults and children with neurological manifestations of influenza. The majority were due to H1N1. More children than adults were identified; many children had specific encephalopathy syndromes with poor outcomes. None had been vaccinated, although 8 (32%) had indications for this. A modified classification system is proposed based on our data and the increasing spectrum of recognized acute encephalopathy syndromes.

  20. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

    Science.gov (United States)

    Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Béri-Dexheimer, Mylène; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valérie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Séverine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Françoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Réseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Bénédicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Héron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaëtan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Véronique; Caignec, Cédric Le; Malan, Valérie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valérie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Portes, Vincent Des; El Chehadeh, Salima

    2018-04-04

    The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  1. Neurological complications following bariatric surgery

    Directory of Open Access Journals (Sweden)

    Yara Dadalti Fragoso

    2012-09-01

    Full Text Available OBJECTIVE: It was to report on Brazilian cases of neurological complications from bariatric surgery. The literature on the subject is scarce. METHOD: Cases attended by neurologists in eight different Brazilian cities were collected and described in the present study. RESULTS: Twenty-six cases were collected in this study. Axonal polyneuropathy was the most frequent neurological complication, but cases of central demyelination, Wernicke syndrome, optical neuritis, radiculits, meralgia paresthetica and compressive neuropathies were also identified. Twenty-one patients (80% had partial or no recovery from the neurological signs and symptoms. CONCLUSION: Bariatric surgery, a procedure that is continuously increasing in popularity, is not free of potential neurological complications that should be clearly presented to the individual undergoing this type of surgery. Although a clear cause-effect relation cannot be established for the present cases, the cumulative literature on the subject makes it important to warn the patient of the potential risks of this procedure.

  2. Neurological findings in triosephosphate isomerase deficiency

    NARCIS (Netherlands)

    Poll-The, B. T.; Aicardi, J.; Girot, R.; Rosa, R.

    1985-01-01

    Two siblings with hemolytic anemia caused by triosephosphate isomerase deficiency developed a progressive neurological syndrome featuring dystonic movements, tremor, pyramidal tract signs, and evidence of spinal motor neuron involvement. Intelligence was unaffected. The findings in these patients

  3. Staphylococcal superantigens; toxic shock syndrome toxin-1 and enterotoxins in pediatric otitis media effusion: a brief report

    Directory of Open Access Journals (Sweden)

    Noorbakhsh S

    2013-03-01

    Full Text Available Background: Staphylococcal superantigens (SAg's may have some role in otitis media with effusion (OME. The aim of this study was the search of staphylococcal SAg's in middle ear effusion of children with OME.  Methods: This cross sectional-analytic study was done in ENT & pediatric wards upon 64 children with otitis media with effusion (OME between 1-15 years, (mean age=7.42+4 years of Rasoul Akram University Hospital, Tehran, Iran in 2009-2011. Fifty six percent (36 of cases were male, 43.8% (28 were female. Staphylococcal SAg's; Toxic Shock Syndrome Toxin-1 (TSST-1, Staphylococcal enterotoxin A, B, C, D (Enzyme immune assay, AB Cam, USA were detected in middle ear effusion samples after conventional culture.Results: None type of SAg's found in 39% of OME cases, enterotoxin B found in: 22%; enterotoxin A: 17%, enterotoxin C: 15.6%, enterotoxin D: 12.5%, Toxic Shock Syndrome Toxin-1 (TSST-1: 7.8% Mean age of cases with positive TSST-1, enterotoxin A, B, C, and D was: 1, 5, 8.6, 9.6 and 9.6 years respectively. Positive TSST had no agreement with positive enterotoxin A and C but had weak agreement with type B and D. Mean age of cases with positive TSST was one years which had significant difference with (7.9 years in cases with negative TSST test (P<0.0001.Conclusion: At least one or more type of staphylococcal toxins had found in middle ear effusion of 70% of OME cases with negative culture for Staphylococcus aureus. Even in culture negative cases, staphylococcal toxins might have some immunologic role in middle ear effusion forming. Finding the SAg's (at least one type are important for treatment of immunosuppressive or corticosteroid in cases with resistant OME.

  4. Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

    OpenAIRE

    Crinò, Antonino; Fintini,Danilo; Bocchini,Sarah; Carducci,Chiara; Grugni,Graziano

    2016-01-01

    Antonino Crinò,1 Danilo Fintini,1 Sarah Bocchini,1 Chiara Carducci,1 Graziano Grugni,2 1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, 2Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy Abstract: Prader–Willi syndrome (PWS) represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many...

  5. Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

    OpenAIRE

    Crinò A; Fintini D; Bocchini S; Carducci C; Grugni G

    2016-01-01

    Antonino Crinò,1 Danilo Fintini,1 Sarah Bocchini,1 Chiara Carducci,1 Graziano Grugni,2 1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, 2Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy Abstract: Prader–Willi syndrome (PWS) represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS li...

  6. Anticardiolipin antibodies in classic pediatric hemolytic-uremic syndrome: a possible pathogenic role.

    Science.gov (United States)

    Ardiles, L G; Olavarría, F; Elgueta, M; Moya, P; Mezzano, S

    1998-01-01

    Anticardiolipin (aCL) antibodies have been associated with thrombocytopenia, hemolytic anemia and an increased risk of thrombosis in different vascular locations, even in the absence of lupus. The classic hemolytic-uremic syndrome is a postinfectious acute renal failure characterized by hemolytic anemia, thrombocytopenia and the presence of widespread glomerular thrombosis in the kidney, with pathogenic mechanisms that remain to be identified. In order to establish the frequency of aCL antibodies in this syndrome and to identify a possible role in the pathogenesis and clinical manifestations, 17 patients were studied during the reactant phase of the disease looking for an association between the presence of aCL antibodies (isotypes IgG, IgA and IgM) and the main clinical variables of the syndrome. In 8 patients IgG aCL was present, 2 patients had IgM aCL, and 1 had IgA antibodies on the solid-phase ELISA aCL assays, but no association could be demonstrated with the clinical variables studied. Although it might correspond to an epiphenomenon related to the triggering intestinal infection, a pathogenic role cannot be discarded and additional studies should be performed.

  7. Gastroesophageal reflux disease vs. Panayiotopoulos syndrome: an underestimated misdiagnosis in pediatric age?

    Science.gov (United States)

    Parisi, Pasquale; Pacchiarotti, Claudia; Ferretti, Alessandro; Bianchi, Simona; Paolino, Maria Chiara; Barreto, Mario; Principessa, Luigi; Villa, Maria Pia

    2014-12-01

    Autonomic signs and symptoms could be of epileptic or nonepileptic origin, and the differential diagnosis depends on a number of factors which include the nature of the autonomic manifestations themselves, the occurrence of other nonictal autonomic signs/symptoms, and the age of the patient. Here, we describe twelve children (aged from ten months to six years at the onset of the symptoms) with Panayiotopoulos syndrome misdiagnosed as gastroesophageal reflux disease. Gastroesophageal reflux disease and Panayiotopoulos syndrome may represent an underestimated diagnostic challenge. When the signs/symptoms occur mainly during sleep, a sleep EEG or, if available, a polysomnographic evaluation may be the most useful investigation to make a differential diagnosis between autonomic epileptic and nonepileptic disorders. An early detection can reduce both the high morbidity related to mismanagement and the high costs to the national health service related to the incorrect diagnostic and therapeutic approaches. To decide if antiseizure therapy is required, one should take into account both the frequency and severity of epileptic seizures and the tendency to have potentially lethal autonomic cardiorespiratory involvement. In conclusion, we would emphasize the need to make a differential diagnosis between gastroesophageal reflux disease and Panayiotopoulos syndrome in patients with "an unusual" late-onset picture of GERD and acid therapy-resistant gastroesophageal reflux, especially if associated with other autonomic symptoms and signs. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Severe neurological complication following adjustable gastric banding.

    Science.gov (United States)

    Martines, G; Musa, N; Aquilino, F; Capuano, P

    2018-01-01

    In the last years with the increase of bariatric surgery, first of all as a result of new indications, a rise in the incidence of nutrient-related complications has been observed. Currently little is known about the impact of post-bariatric malnutrition and neurological complications. Wernicke's encephalopathy is a severe neurological syndrome which occurs as a result of thiamine deficiency. Wernicke-Korsakoff syndrome must be considered a serious neurological complication of bariatric surgery with significant morbidity and mortality, with rapidly progressing neurological symptoms, and must be treated immediately. We report the case of a 35 years-old male patient, affected by morbid obesity, anxious-depressive syndrome and alcohol use disorder, who after adjustable gastric banding implanted in another hospital developed a severe malnutrition and neurological syndrome. The patient showed poor adherence to the follow-up and to the dietary indications and after all, we needed to place a PEG for enteral nutrition in order to resolve the malnutrition condition and the neurological syndrome. Our experience emphasizes that preoperative selection and assessment of a patient's nutritional status according to guidelines, is required to identify potential problems, and that bariatric surgeons or physicians caring for patient who have undergone bariatric surgery should be familiar with the constellation of nutritional and neurological disorder that may occur after surgery. We want to remark the importance of preoperative selection of the patients, the follow-up and the cooperation between patient and physician in order to obtain the best result and avoid severe complications.

  9. McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

    Science.gov (United States)

    Agopiantz, Mikael; Journeau, Pierre; Lebon-Labich, Béatrice; Sorlin, Arthur; Cuny, Thomas; Weryha, Georges; Leheup, Bruno

    2016-02-01

    McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life. A series of 14 pediatric cases were followed between 1994 and 2013 by the competence center for rare endocrine diseases and constitutional bone diseases at CHU de Nancy (France). The diagnosis is based on the presence of at least two symptoms. The mean follow-up was 6 years (1-17 years). The sex ratio was six girls per boy. The incidence was 0.28 cases/million population/year. Mean age at diagnosis was 6 years. A mutation in the GNAS gene was found in 33% of patients tested. Gonadal involvement (13/14 cases), including early peripheral puberty and ovarian cysts in girls (82%) occurred on average at 4 years of age. Bone involvement (10/14 cases) appeared on average at 5 years of age and was most often multiple (80%) with fracture risk, and the skull, with a neurosensory risk. Clinical definition and methods of screening and monitoring can be improved to allow for an earlier intervention. It must be multidisciplinary and take into account the disability and quality of life of the patient. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. Successful management of Churg-Strauss syndrome using omalizumab as adjuvant immunomodulatory therapy: first documented pediatric case.

    Science.gov (United States)

    Iglesias, E; Camacho Lovillo, M; Delgado Pecellín, I; Lirola Cruz, M J; Falcón Neyra, M D; Salazar Quero, J C; Bernabeu-Wittel, J; González Valencia, J P; Neth, O

    2014-03-01

    Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it is extremely rare in childhood and defined according to the Chapel-Hill Consensus as an eosinophil-rich and granulomatous inflammation involving the respiratory tract and necrotizing vasculitis affecting small to medium-sized vessels. Children commonly have a history of asthma and sinusitis whilst clinical presentation typically involves pulmonary tract and less frequently skin, heart, gastrointestinal tract, and peripheral nerves. Cardiopulmonary disease is higher in children and prognosis is worse. It is associated with significant eosinophilia and raised serum IgE-levels. ANCA are only found in 25% of childhood cases. Here we report the case of a 10-year-old girl who presented to us with vomiting, abdominal pain, and weight loss, paresthesias of lower extremities and breathlessness as well as a history of asthma, sinusitis and allergic rhinitis. She was treated with corticosteroids, cyclophosphamide, intravenous immunoglobulin, mycophenolate mofetil (MMF), and rituximab. However, remission was only achieved after initiation of omalizumab therapy, a recombinant humanized anti-IgE antibody. To the best of our knowledge this is the first pediatric patient suffering from CSS successfully managed with adjuvant anti-IgE therapy resulting in the control of respiratory as well as gastrointestinal symptoms. © 2013 Wiley Periodicals, Inc.

  11. Design of pediatric oral formulations with a low proportion of methadone or phenobarbital for the treatment of neonatal abstinence syndrome.

    Science.gov (United States)

    Provenza, Nora; Calpena, Ana C; Mallandrich, Mireia; Pueyo, Blanca; Clares, Beatriz

    2016-09-01

    Elaboration of oral liquid formulations is the best alternative when no marketed forms are available for pediatrics. The development, characterization and stability evaluation of methadone (MI, MII, MIII) and phenobarbital (PI, PII) can be used for the treatment of neonatal abstinence syndrome (NAS). A standard operating procedure was established and parameters such as appearance, pH, rheological behavior and drug content were evaluated at three temperatures for 90 days. Changes in color of phenobarbital made necessary the storage below 25 °C. pH did not change in methadone solutions and was able to maintain phenobarbital solubilized. Degradation data at 4 °C fitted to Plateau equation followed by one phase decay. MI was stable for 60 days at the three temperatures; MII for 90 days at 4 and 25 °C and 60 days at 40 °C; MIII for 60 days at 4 °C, 15 days at 25 °C and 7 days at 4 °C. PI was stable for 60 days at 4 °C and 30 days at 25 °C. PII was stable for 7 days at 4 and 25 °C. All solutions met microbial specifications. A correct dosage for the treatment of NAS was guaranteed.

  12. Pediatric tracheostomy.

    Science.gov (United States)

    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. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Neurocutaneous syndrome: A prospective study

    Directory of Open Access Journals (Sweden)

    Radheshyam Purkait

    2011-01-01

    Full Text Available Background: Neurocutaneous syndromes (NCS are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls.The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months. The various forms of NCS observed was neurofibromatosis 1(NF1 (n=33, tuberous sclerosis complex (TSC (n=23, Sturge Weber syndrome (n=6, ataxia telangiectasia (n=2, PHACE syndrome (n=1, incontinentia pigmenti (n=1, and hypomelanosis of Ito (n=1. The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs with time (P=0.0002 in NF1, unlike that of hypopigmented macules of TSC (P=0.15. Statistically, no relation was documented between the evolution of skin

  14. Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas T. Gamboa, B.S.

    2017-12-01

    Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

  15. The 'Battered-Child-Syndrome': The view of the pediatric radiologist

    International Nuclear Information System (INIS)

    Greinacher, I.; Troeger, J.

    1982-01-01

    The diagnosis of the Battered-Child-Syndrome (BSC) is made by the pediatrician and the radiologist. The recognition of this entity by the radiologist is possible because of the high frequency of the typical skeletal lesions. This skeletal changes are illustrated by X-ray pictures and bone scans. Not only skeletal trauma can be discovered but also visceral injuries may be combined and diagnosed in the BCS. For the detection of all changes in the BCS nowadays all possible imaging procedures should be used. Some forensic problems in this field are added. (orig.)

  16. Sinusoidal Obstruction Syndrome During Chemotherapy of Pediatric Cancers and its Successful Management With Defibrotide.

    Science.gov (United States)

    Kizilocak, Hande; Dikme, Gürcan; Özdemir, Nihal; Kuruğoğlu, Sebuh; Adaletli, İbrahim; Erkan, Tülay; Celkan, Tiraje

    2017-10-01

    Sinusoidal obstruction syndrome (SOS) is a life-threatening complication generally occurring after hematopoietic stem cell transplantation. SOS after standard dose chemotherapy in malignancies is rare. Between the year 1995 and 2016, 414 patients were diagnosed with acute lymphoblastic leukemia and 113 patients were diagnosed with Wilms tumor in our institution. Among these patients, 4 patients with acute lymphoblastic leukemia (0.96%) and 2 patients with Wilms tumor (1.7%) developed SOS during treatment. SOS behaves like a local disseminated intravascular coagulation. Defibrotide has proved to be effective in SOS. In this article, we report our experience with defibrotide in SOS.

  17. [Use of Airwayscope with pediatric intlock in a patient with first and second branchial arch syndrome].

    Science.gov (United States)

    Kubota, Aiko; Takeda, Akiko; Arai, Toshimi; Murozono, Michihiro

    2013-12-01

    First and second branchial arch syndrome is a congenital anomaly of craniofacial dysplasia involving organs derived from the second branchial arch. The main characteristics are microtia and mandibular hypoplasia. A 6-year-old boy was scheduled for adenoidectomy and bilateral myringotomy and tube placement. Slow induction was performed with oxygen, nitrous oxide, and sevoflurane. No difficulties were encountered during mask ventilation, and rocuronium was administered intravenously. His epiglottis was not visible during laryngoscopy. Therefore, we used the Airwayscope (AWS). His glottis was visible after application of cricold pressure from the left side. However, we could not closely conform his epiglottis to the mark on the AWS. Therefore, we passed a fiberoptic bronchoscope through a tracheal tube and placed it in the AWS. We attempted to intubate the trachea, but could not guide the bronchoscope to his glottis. We then attempted to pull the tracheal tube to improve the mobility of the bronchoscope. Control of the bronchoscope consequently became easy We successfully guided it to his glottis and performed tracheal intubation. His condition was stable during the procedure. In conclusion, we safely performed tracheal intubation in a patient with first and second branchial arch syndrome using the AWS and a fiberoptic bronchoscope.

  18. Immune globulins are effective in severe pediatric Guillain-Barré syndrome.

    Science.gov (United States)

    Shahar, E; Shorer, Z; Roifman, C M; Levi, Y; Brand, N; Ravid, S; Murphy, E G

    1997-01-01

    The effect of high-dose intravenous immune globulins was evaluated in an open prospective multicenter study of 26 children with severe Guillain-Barré syndrome. They presented with mild to moderate flaccid weakness of extremities, with cranial nerve involvement (20) and sensory impairment (22). All children rapidly deteriorated in 2-16 days (mean 6) to become bedridden, and 2 children also developed respiratory failure requiring artificial ventilation (Disability Grading Scale 4-5). Immune globulins were then administered at a total dose of 2 gm/kg, on 2 consecutive days, without adverse effects requiring discontinuation of therapy. Marked and rapid improvement was noted in 25 children, who improved by 1 to 2 Disability Grade Scales ventilator. Eighteen children recovered by 2 weeks. The rest recuperated in a period of four months, including a child who was artificially ventilated for 4 weeks. The uniform rapid improvement and recovery associated with immune globulins contrasts with the slow recovery course in severe natural cases. We conclude that immune globulins are effective and safe in severe childhood-onset Guillain-Barré syndrome and therefore may serve as the initial treatment of choice.

  19. High tidal volume decreases adult respiratory distress syndrome, atelectasis, and ventilator days compared with low tidal volume in pediatric burned patients with inhalation injury.

    Science.gov (United States)

    Sousse, Linda E; Herndon, David N; Andersen, Clark R; Ali, Arham; Benjamin, Nicole C; Granchi, Thomas; Suman, Oscar E; Mlcak, Ronald P

    2015-04-01

    Inhalation injury, which is among the causes of acute lung injury and acute respiratory distress syndrome (ARDS), continues to represent a significant source of mortality in burned patients. Inhalation injury often requires mechanical ventilation, but the ideal tidal volume strategy is not clearly defined in burned pediatric patients. The aim of this study was to determine the effects of low and high tidal volume on the number of ventilator days, ventilation pressures, and incidence of atelectasis, pneumonia, and ARDS in pediatric burned patients with inhalation injury within 1 year post burn injury. From 1986 to 2014, inhalation injury was diagnosed by bronchoscopy in pediatric burned patients (n = 932). Patients were divided into 3 groups: unventilated (n = 241), high tidal volume (HTV, 15 ± 3 mL/kg, n = 190), and low tidal volume (LTV, 9 ± 3 mL/kg, n = 501). High tidal volume was associated with significantly decreased ventilator days (p tidal volume significantly decreases ventilator days and the incidence of both atelectasis and ARDS compared with low tidal volume in pediatric burned patients with inhalation injury. Therefore, the use of HTV may interrupt sequences leading to lung injury in our patient population. Copyright © 2015 American College of Surgeons. Published by Elsevier Inc. All rights reserved.

  20. Pediatric-onset multiple sclerosis and other acquired demyelinating syndromes of the central nervous system in Denmark during 1977-2015

    DEFF Research Database (Denmark)

    Boesen, Magnus Spangsberg; Magyari, Melinda; Koch-Henriksen, Nils

    2018-01-01

    BACKGROUND: The incidence of acquired demyelinating syndromes (ADS) including multiple sclerosis (MS) has never been investigated in a Danish pediatric population. OBJECTIVES: We estimated the nationwide age- and sex-specific incidence of pediatric ADS including MS. METHODS: Data were sourced from...... the Danish Multiple Sclerosis Registry, providing cases of pediatric MS for 1977-2015, and the National Patient Register, providing cases of ADS during 2008-2015. All medical records were reviewed to validate the register-based diagnoses. RESULTS: We identified 364 cases of pediatric MS occurring during 1977......-2015 (incidence rate = 0.79 per 100,000 person-years). MS was exceptionally rare before puberty, but the incidence rose considerably from 9 years in girls and 11 years in boys. The female-to-male ratio was 2.5; the median age at onset was 16 years (range = 7-17 years). The MS incidence rate was relatively stable...

  1. Neurological aspects of acute radiation injuries

    International Nuclear Information System (INIS)

    Torubarov, F.S.; Bushmanov, A.Yu.

    1999-01-01

    Results of the most important clinical studies of human nervous system reactions to acute radiation, carried out at Neurology Clinic of the State Research Center of Russia - Institute of Biophysics are presented. Clinical picture of changes in the nervous system in acute radiation disease caused by homologous and heterologous external irradiation is described. Main neurological syndrome of extremely severe acute radiation disease: acute radiation encephalopathy, radiation toxic encephalopathy, and hemorrhagic syndrome of the central nervous system is distinguished. Relationship between neurological disorders and the geometry of exposure are considered [ru

  2. Detection of underlying malignancy in patients with paraneoplastic neurological syndromes: comparison of {sup 18}F-FDG PET/CT and contrast-enhanced CT

    Energy Technology Data Exchange (ETDEWEB)

    Schramm, N.; Schmid-Tannwald, C.; Meinel, F.G.; Reiser, M.F.; Rist, C. [Ludwig-Maximilians-University Hospital Munich, Institute for Clinical Radiology, Munich (Germany); Rominger, A. [Ludwig-Maximilians-University Hospital Munich, Department of Nuclear Medicine, Munich (Germany); Schmidt, C. [Ludwig-Maximilians-University Hospital Munich, Department of Neurology, Munich (Germany); Morelli, J.N. [Texas A and M Health Sciences Center, Department of Radiology, Temple, TX (United States)

    2013-07-15

    To determine the value of combined {sup 18}F-FDG PET/CT with diagnostic contrast-enhanced CT (CECT) in detecting primary malignancies and metastases in patients with paraneoplastic neurological syndromes (PNS) and to compare this with CECT alone. PET/CT scans from 66 patients with PNS were retrospectively evaluated. Two blinded readers initially reviewed the CECT portion of each PET/CT scan. In a second session 3 months later, the readers analysed the combined PET/CT scans. Findings on each study were assessed using a four-point-scale (1 normal/benign; 2 inconclusive, further diagnostic work-up may be necessary; 3 malignant; 4 inflammatory). Sensitivity and specificity for malignant findings were calculated for PET/CT and CECT. Interreader agreement was determined by calculating Cohen's kappa. Pooled data from clinical follow-up (including histopathology and follow-up imaging, median follow-up 20.0 months) served as the reference gold standard. Both readers classified 12 findings in ten patients (15 %) as malignant on the PET/CT scans (two patients had two primary tumours). One such imaging finding (suspected thymic cancer) was false-positive (i.e. benign histology). The most common tumours were bronchial carcinoma (n = 3), lymph node metastases of gynaecological tumours (n = 3) and tonsillar carcinoma (n = 2). Three of 12 findings (25 %) were not detected by CECT alone (cervical carcinoma, lymph node metastasis and tonsillar carcinoma). In a per-patient analysis, sensitivity and specificity for malignant findings were 100 % and 90 % for PET/CT and 78 % and 88 % for CECT. In 24 % (reader 1) and 21 % (reader 2) of the patients, the PET/CT findings were inconclusive. Of these findings, 57 % (reader 1) and 56 % (reader 2) were only diagnosed with PET (e.g. focal FDG uptake of the thyroid, gastrointestinal tract and ovaries). On follow-up, none of these findings corresponded to malignancy. Overall agreement between the two readers was excellent with a Cohen

  3. Metabolic risk-factor clustering estimation in children: to draw a line across pediatric metabolic syndrome

    DEFF Research Database (Denmark)

    Brambilla, P; Lissau, I; Flodmark, C-E

    2007-01-01

    BACKGROUND: The diagnostic criteria of the metabolic syndrome (MS) have been applied in studies of obese adults to estimate the metabolic risk-associated with obesity, even though no general consensus exists concerning its definition and clinical value. We reviewed the current literature on the MS......, focusing on those studies that used the MS diagnostic criteria to analyze children, and we observed extreme heterogeneity for the sets of variables and cutoff values chosen. OBJECTIVES: To discuss concerns regarding the use of the existing definition of the MS (as defined in adults) in children...... derived from a child's family and personal history; the lack of consensus on insulin levels, lipid parameters, markers of inflammation or steato-hepatitis; the lack of an additive relevant effect of the MS definition to obesity per se. We propose the adoption of 10 evidence-based items from which...

  4. Congenital seminal vesicle cyst accompanying with ipsilateral renal agenesis in an adolescent patient: A pediatric radiologist approach to Zinner’s syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Burak Özkan

    2015-12-01

    Full Text Available A fifteen-year-old boy who had complaints of left sided pelvic pain with known ipsilateral left renal agenesia was referred to pediatric radiology department. Incidentally, his sonography examination revealed a dilated tubular structure located in the retro-vesicular region from cephalic to prostate. Contrast enhanced pelvic MRI showed a huge seminal vesicle cyst which is over 6 cm without a mass effect near the aspect border of the prostate and bladder. The patient was diagnosed with Zinner syndrome. The patient doesn’t have new complaint with no definite increase in the diameter of the cyst. In this case presentation we are discussing the Zinner syndrome’s imaging findings from a pediatric radiologist approach with a brief review of the literature.

  5. Clinical trial simulations in pediatric patients using realistic covariates: application to teduglutide, a glucagon-like peptide-2 analog in neonates and infants with short-bowel syndrome.

    Science.gov (United States)

    Mouksassi, M S; Marier, J F; Cyran, J; Vinks, A A

    2009-12-01

    Teduglutide, a synthetic glucagon-like peptide-2 (GLP-2) analog with activity relating to the regeneration, maintenance, and repair of the intestinal epithelium, is currently being evaluated for the treatment of short-bowel syndrome (SBS), Crohn's disease, and other gastrointestinal disorders. On the basis of promising results from teduglutide studies in adults with SBS and from studies in neonatal and juvenile animal models, a pediatric multiple-dose phase I clinical study was designed to determine the safety, efficacy, and pharmacokinetics of teduglutide in pediatric patients with SBS who have undergone resection for necrotizing enterocolitis, malrotation, or intestinal atresia. This report details the application of clinical trial simulations coupled with a novel approach using generalized additive modeling for location, scale, and shape (GAMLSS) that facilitates the simulation of demographic covariates specific to the targeted patient populations. The goal was to optimize phase I dosing strategies and the likelihood of achieving target exposure and therapeutic effect.

  6. Arterial blood pressure but not serum albumin concentration correlates with ADC ratio values in pediatric posterior reversible encephalopathy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Furtado, Andre; Zuccoli, Giulio [Section of Neuroradiology Children' s Hospital of Pittsburgh of UPMC, Department of Radiology, Pittsburgh, PA (United States); Hsu, Ariel [University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); La Colla, Luca [University of Parma, Department of Anesthesiology, Parma (Italy)

    2015-07-15

    Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiological entity affecting both adults and children characterized by neurotoxicity often in setting of hypertension coupled with distinct brain magnetic resonance imaging features. Decreased serum albumin level has been suggested to correlate with the presence of vasogenic brain edema in adult PRES. Serum albumin has thus been hypothesized to protect against neurotoxicity in PRES by reducing vasogenic brain edema through its role in maintaining plasma osmotic pressure and endothelial integrity. The purpose of our study was to investigate if such correlation between decreased serum albumin level and PRES-related vasogenic edema could be found in children. We conducted a retrospective study of 25 pediatric patients diagnosed with PRES. Underlying clinical conditions, presenting symptoms, blood pressures, and serum albumin levels at onset of symptoms were collected. Brain MR imaging studies were reviewed. We used a quantitative method to evaluate the degree of vasogenic edema by measuring apparent diffusion coefficient (ADC) values of the T2-FLAIR hyperintense brain lesions. No significant correlation was found between serum albumin level and degree of PRES-related vasogenic edema. A significant correlation was found between elevated blood pressure and degree of vasogenic edema in the temporal lobes (p = 0.02 and 0.04, respectively) but not in the other cerebral lobes or cerebellum. Our initial results suggest blood pressure, not serum albumin level, as a main biomarker for brain edema in children with PRES. Thus, our study does not suggest a protective role of serum albumin against PRES-related neurotoxicity in children. (orig.)

  7. Clinical Predictors of Multiple Organ Dysfunction Syndromes in Pediatric patients with Scrub Typhus.

    Science.gov (United States)

    Zhao, Dongying; Zhang, Yongjun; Yin, Zhaoqing; Zhao, Jing; Yang, Defeng; Zhou, Qun

    2017-06-01

    Scrub typhus can produce multiple organ dysfunction syndrome (MODS). Early recognition of the patients at risk of MODS would be helpful in providing timely management and reducing the mortality. In all, 449 children with scrub typhus were enrolled at three hospitals in Yunnan, China from January 2010 to January 2015. The patients' clinical status of organ system dysfunction was evaluated on the day of discharge from hospital by using standard criteria. The patients were classified into MODS present (64 cases, 14.3%) or MODS absent (385 cases, 85.7%). Multivariate logistic regression analyses revealed that the prognostic factors for MODS included skin rash (odds ratio, OR = 3.3, p = 0.037), time interval form treatment to defervescence (OR = 1.2, p = 0.035), hemoglobin (OR = 0.54, p = 0.041), platelet counts (OR = 0.06, p scrub typhus, our study provides clinicians with important information to improve the clinical monitoring and prognostication of MODS. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  8. [Expression of glomerular heparan sulfate domains in pediatric patients with minimal change nephrotic syndrome].

    Science.gov (United States)

    Dong, Li-Qun; Wang, Zheng; Yu, Ping; Guo, Yan-Nan; Wu, Jin; Feng, Shi-Pin; Li, Sha

    2009-01-01

    To investigate the expression of glomerular heparin sulfate (HS) in paediatric patients with minimal change nephritic syndrome (MCNS). The kidyney tissues were collected by biopsy from 13 paediatric patients with MCNS, while 5 normal renal biopsy samples were used as control. HS in glomeruli was analysed by indirect immunofluorescence staining using four different monoclonal antibodies, Hepss1, 3G10, JM403 and 10E4, which all recognize distinct HS species and each interacts with a specific HS domain. The concentrations of urine heparan sulfate also were measured by enzyme-linked immunosorbent assay (Elisa). Expression of HS fine domains was aberrant in paediatric patients compared with control subjects. Children with MCNS in replase showed a decreased glomerular expression of 10E4, JM403 and Hepss1 (P peadiatric patients with MCNS when compared with that in control subjects (P < 0.01). These results suggest that loss of heparan sulphate in renal tissue may play a role in the pathogenesis of MCNS proteinuria.

  9. Susac’s Syndrome (Retinocochleocerebral Vasculopathy): Follow-up of a Pediatric Patient

    Science.gov (United States)

    Karalok, Zeynep Selen; Taskin, Birce Dilge; Guven, Alev; Ucgul, Cemile Atilgan; Aydin, Omer Faruk

    2017-01-01

    Susac’s syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging revealed multiple lesions in the corpus callosum. Cerebrospinal fluid findings gave normal results. The initial diagnosis was MS and steroid (1000 mg/day) was given. She started to describe hallucinations and became paraplegic. She then underwent plasmapheresis five times without response. Her electroencephalogram was diffusely slow with 2–3 Hz delta rhythm at the frontal regions. Audiological examination showed that she had sensorineural hearing loss in her left ear. Ophthalmologic evaluation revealed BRAO in both eyes. On the basis of these findings, she was diagnosed with SS and treated with intravenous immunoglobulin (IVIG) and aspirin. After monthly treatment with IVIG for 6 months, the patient has almost fully recovered. SS should be kept in mind in the differential diagnosis of MS and ADEM. PMID:29675082

  10. The Role of Thromboelastography in Pediatric Patients with Sinusoidal Obstructive Syndrome Receiving Defibrotide.

    Science.gov (United States)

    Gendreau, Joanna L; Knoll, Christine; Adams, Roberta H; Su, Leon L

    2017-04-01

    Sinusoidal obstructive syndrome (SOS) is a potentially fatal form of hepatic injury after hematopoietic stem cell transplantation. Patients can develop liver dysfunction, portal hypertension, ascites, coagulopathies, and multisystem organ failure. The mortality rate of severe SOS has been reported as high as 98% by day 100 after transplantation. Defibrotide, which is now approved for the treatment of SOS, has significantly decreased mortality. Defibrotide is a polynucleotide with profibrinolytic, anti-ischemic, and anti-inflammatory activity. These properties can increase the risk of life-threatening bleeding in this patient population. Previous protocols have suggested maintaining international normalized ratio ≤ 1.5, platelets > 30 k/uL, and fibrinogen ≥ 150 mg/dL to minimize this risk of bleeding. However, this can be challenging in fluid-sensitive patients with SOS. Thromboelastography (TEG) is a functional assay that evaluates the balance of procoagulant and anticoagulant proteins. In this series, TEG was used to guide defibrotide therapy as well as blood product transfusions in SOS patients with abnormal coagulation studies. Each patient recovered from SOS and had no bleeding complications. A randomized clinical trial is the next step in supporting the use of TEG in SOS patients with abnormal coagulation studies receiving defibrotide therapy. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  11. Psychological distress and stressful life events in pediatric complex regional pain syndrome

    Science.gov (United States)

    Wager, Julia; Brehmer, Hannah; Hirschfeld, Gerrit; Zernikow, Boris

    2015-01-01

    BACKGROUND: There is little knowledge regarding the association between psychological factors and complex regional pain syndrome (CRPS) in children. Specifically, it is not known which factors precipitate CRPS and which result from the ongoing painful disease. OBJECTIVES: To examine symptoms of depression and anxiety as well as the experience of stressful life events in children with CRPS compared with children with chronic primary headaches and functional abdominal pain. METHODS: A retrospective chart study examined children with CRPS (n=37) who received intensive inpatient pain treatment between 2004 and 2010. They were compared with two control groups (chronic primary headaches and functional abdominal pain; each n=37), who also received intensive inpatient pain treatment. Control groups were matched with the CRPS group with regard to admission date, age and sex. Groups were compared on symptoms of depression and anxiety as well as stressful life events. RESULTS: Children with CRPS reported lower anxiety and depression scores compared with children with abdominal pain. A higher number of stressful life events before and after the onset of the pain condition was observed for children with CRPS. CONCLUSIONS: Children with CRPS are not particularly prone to symptoms of anxiety or depression. Importantly, children with CRPS experienced more stressful life events than children with chronic headaches or abdominal pain. Prospective long-term studies are needed to further explore the potential role of stressful life events in the etiology of CRPS. PMID:26035287

  12. Neurological Consequences of Obesity

    Science.gov (United States)

    O’Brien, Phillipe D.; Hinder, Lucy M.; Callaghan, Brian C.; Feldman, Eva L.

    2017-01-01

    Obesity, primarily a consequence of poor dietary choices and an increased sedentary lifestyle, has become a global pandemic that brings with it enormous medical, social, and economic challenges. Not only does obesity increase the risk of cardiovascular disease and certain cancers, but it is also recognized as a key driver of other metabolic syndrome (MetS) components. These components include insulin resistance, hyperglycemia with prediabetes or type 2 diabetes, dyslipidemia, and hypertension, and are underlying contributors to systemic metabolic dysfunction. More recently, obesity and diet-induced metabolic dysfunction have been identified as risk factors for the development of a wide variety of neurological disorders in both the central and peripheral nervous systems. An abundance of literature has shown that obesity is associated with mild cognitive impairment and altered hippocampal structure and function, and there is a robust correlation between obesity and Alzheimer’s type dementia. Similarly, many reports show that both the autonomic and somatic components of the peripheral nervous system are impacted by obesity. The autonomic nervous system, under control of the hypothalamus, displays altered catabolic and anabolic processes in obese individuals attributed to sympathetic-parasympathetic imbalances. A close association also exists between obesity and polyneuropathy, a complication most commonly found in prediabetic and diabetic patients, and is likely secondary to a combination of obesity-induced dyslipidemia with hyperglycemia. This review will outline the pathophysiological development of obesity and dyslipidemia, discuss the adverse impact of these conditions on the nervous system, and provide evidence for lipotoxicity and metabolic inflammation as the drivers underlying the neurological consequences of obesity. In addition, this review will examine the benefits of lifestyle and surgical interventions in obesity-induced neurological disorders. PMID

  13. Are Probiotics or Prebiotics useful in pediatric irritable bowel syndrome or inflammatory bowel disease?

    Directory of Open Access Journals (Sweden)

    Stefano eGuandalini

    2014-08-01

    Full Text Available Treatment options for irritable bowel syndrome (IBS and inflammatory bowel disease (IBD are notoriously either inadequate (IBS or loaded with potentially serious side effects and risks (IBD. In recent years a growing interest for effective and safer alternatives has focused on the potential role of probiotics and their metabolic substrates, prebiotics. It is in fact conceivable that the microbiome might be targeted by providing the metabolic fuel needed for the growth and expansion of beneficial microorganisms (prebiotics or by administering to the host such microorganisms (probiotics. This review presents a concise update on currently available data, with a special emphasis on children.Data for prebiotics in IBS are scarce. Low doses have shown a beneficial effect, while high doses are counterproductive. On the contrary, several controlled trials of probiotics have yielded encouraging results. A meta-analysis including 9 randomized clinical trials in children showed an improvement in abdominal pain for Lactobacillus GG, Lactobacillus reuteri DSM 17938 and the probiotic mixture VSL#3. The patients most benefitting from probiotics were those with predominant diarrhea or with a post-infectious IBS. In IBD, the use of prebiotics has been tested only rarely and in small scale clinical trials, with mixed results. As for probiotics, data in humans from about 3 dozens clinical trials offer mixed outcomes. So far none of the tested probiotics has proven successful in Crohn’s disease, while in ulcerative colitis a recent meta-analysis on 12 clinical trials (1 of them in children showed efficacy for the probiotic mixture VSL#3 in contributing to induce and to maintain remission. It is evident that this is a rapidly evolving and promising field; more data are very likely to yield a better understanding on what strains and in what doses should be used in different specific clinical settings.

  14. A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ozcan, Gozde; Balta, Burhan; Sekerci, Ahmet Ercan; Etoz, Osman A; Martinuzzi, Claudia; Kara, Ozlem; Pastorino, Lorenza; Kocoglu, Fatma; Ulker, Omer; Erdogan, Murat

    2016-01-01

    Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

  15. A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome

    Directory of Open Access Journals (Sweden)

    Gozde Ozcan

    2016-01-01

    Full Text Available Gorlin–Goltz syndrome (GGS is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs, odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

  16. The incidence of transient neurologic syndrome after spinal anesthesia with lidocaine or bupivacaine: The effects of needle type and surgical position: brief report

    Directory of Open Access Journals (Sweden)

    Etezadi F

    2011-10-01

    Full Text Available "nBurning Transient Neurologic Syndrome (TNS which was first described by Schneider et al in 1993, is defined as a transient pain and dysesthesia in waist, buttocks and the lower limbs after spinal anesthesia.1,2 The incidence of TNS after spinal anesthesia with lidocaine is reported to be as high as 10-40%.3,4 This prospective study was designed to determine the incidence of TNS with two different types of drugs, lidocaine and bupivacaine, in lithotomy or supine positions as the primary outcomes and to determine the association between two different types of needles and surgical positions with the occurrence of TNS as the secondary outcome."nThe present study was conducted on 250 patients (ASA I-II, aged 18-60 years old, who were candidates for surgery in supine or lithotomy positions. According to the needle type (Sprotte or Quincke and the local anesthetic (lidocaine or bupivacaine all patients were randomly divided into four groups. After establishing standard monitoring, spinal anesthesia was performed in all sitting patients by attending anesthesiologists at L2-L3 or L3-L4 levels. The patients were placed in supine or lithotomy position, in regards to the surgical procedure. During the first three postoperative days, patients were observed for post spinal anesthesia complications, especially TNS. Any sensation of pain, dysesthesia, paresthesia or hyperalgesia in the low back area, buttocks, the anterior or posterior thigh, knees, either foot or both feet were recorded. Moreover, duration of pain, its radiation and its relation to sleep and the patients' position were all carefully considered. Ultimately, the patients' response to opioid (pethidine for analgesia was determined."nThe incidence of TNS was higher when spinal anesthesia was induced with lidocaine (68% vs. 22%, P=0.003. TNS developed in 85% of the patients in lidocaine group and 58% in bupivacaine group after surgery in lithotomy position (P=0.002. In 77 patients pain

  17. Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) in a patient with confusional symptoms, diffuse EEG abnormalities, and bilateral vasospasm in transcranial Doppler ultrasound: A case report and literature review.

    Science.gov (United States)

    Hidalgo de la Cruz, M; Domínguez Rubio, R; Luque Buzo, E; Díaz Otero, F; Vázquez Alén, P; Orcajo Rincón, J; Prieto Montalvo, J; Contreras Chicote, A; Grandas Pérez, F

    2017-04-17

    HaNDL syndrome (transient headache and neurological deficits with cerebrospinal fluid lymphocytosis) is characterised by one or more episodes of headache and transient neurological deficits associated with cerebrospinal fluid lymphocytosis. To date, few cases of HaNDL manifesting with confusional symptoms have been described. Likewise, very few patients with HaNDL and confusional symptoms have been evaluated with transcranial Doppler ultrasound (TCD). TCD data from patients with focal involvement reveal changes consistent with vasomotor alterations. We present the case of a 42-year-old man who experienced headache and confusional symptoms and displayed pleocytosis, diffuse slow activity on EEG, increased blood flow velocity in both middle cerebral arteries on TCD, and single-photon emission computed tomography (SPECT) findings suggestive of diffuse involvement, especially in the left hemisphere. To our knowledge, this is the first description of a patient with HaNDL, confusional symptoms, diffuse slow activity on EEG, and increased blood flow velocity in TCD. Our findings suggest a relationship between cerebral vasomotor changes and the pathophysiology of HaNDL. TCD may be a useful tool for early diagnosis of HaNDL. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. The Role of Genetic, Dietary and Lifestyle Factors in Pediatric Metabolic Syndrome: A Review of the Literature from Prenatal to Adolescence

    Directory of Open Access Journals (Sweden)

    Teresa Arora

    2017-04-01

    Full Text Available The metabolic syndrome (MetS is described as a cluster of health conditions that are associated with an increased risk of cardiovascular disease. The clinical diagnosis of MetS in pediatrics is challenging due to differing criteria, although the estimated prevalence continues to rise. The increased prevalence of childhood obesity and insulin resistance, in both developed and developing countries, is believed to be a major contributor to MetS diagnosis in children. We review the current literature surrounding genetic predisposition, maternal influence, epigenetics, environmental and lifestyle factors pertaining to pediatric MetS with a specific emphasis on obesity and insulin resistance. We highlight and discuss recent, key studies in prenatal through to adolescent populations and review evidence suggesting that children may be pre-disposed to obesity and insulin resistance, prenatally. We also discuss several key lifestyle drivers of these conditions including poor nutrition and dietary habits, insufficient physical activity, use of electronic devices, over-consumption of caffeinated and/or sugar-sweetened beverages, as well as the importance of sleep during childhood and adolescence in relation to metabolic health. We conclude with recommendations for preventable methods to tackle this growing pediatric public health issue, which, if current trends continue, will undoubtedly compromise the health and longevity of the next adult generation.

  19. THE NEUROLOGICAL FACE OF CELIAC DISEASE

    Directory of Open Access Journals (Sweden)

    Sedat IŞIKAY

    2015-09-01

    Full Text Available BackgroundSeveral neurological disorders have also been widely described in celiac disease patients.ObjectiveThe aim of this study was to determine the incidence of accompanying different neurologic manifestations in children with celiac disease at the time of diagnosis and to discuss these manifestations in the light of the recent literature.MethodsThis prospective cross sectional study included 297 children diagnosed with celiac disease. The medical records of all patients were reviewed.ResultsIn neurological evaluation, totally 40 (13. 5% of the 297 celiac patients had a neurological finding including headache, epilepsy, migraine, mental retardation, breath holding spells, ataxia, cerebral palsy, attention deficit hyperactivity disorder, Down syndrome and Turner syndrome in order of frequency. There was not any significant difference between the laboratory data of the patients with and without neurological manifestations. However; type 3a biopsy was statistically significantly more common among patients without neurological manifestations, while type 3b biopsy was statistically significantly more common among patients with neurological manifestations.ConclusionIt is important to keep in mind that in clinical course of celiac disease different neurological manifestations may be reported.

  20. THE NEUROLOGICAL FACE OF CELIAC DISEASE.

    Science.gov (United States)

    Işikay, Sedat; Kocamaz, Halil

    2015-01-01

    Several neurological disorders have also been widely described in celiac disease patients. The aim of this study was to determine the incidence of accompanying different neurologic manifestations in children with celiac disease at the time of diagnosis and to discuss these manifestations in the light of the recent literature. This prospective cross sectional study included 297 children diagnosed with celiac disease. The medical records of all patients were reviewed. In neurological evaluation, totally 40 (13. 5%) of the 297 celiac patients had a neurological finding including headache, epilepsy, migraine, mental retardation, breath holding spells, ataxia, cerebral palsy, attention deficit hyperactivity disorder, Down syndrome and Turner syndrome in order of frequency. There was not any significant difference between the laboratory data of the patients with and without neurological manifestations. However; type 3a biopsy was statistically significantly more common among patients without neurological manifestations, while type 3b biopsy was statistically significantly more common among patients with neurological manifestations. It is important to keep in mind that in clinical course of celiac disease different neurological manifestations may be reported.

  1. Volume changes of whole brain gray matter in pediatric patients with Tourette syndrome: evidence from voxel-based morphometry

    International Nuclear Information System (INIS)

    Liu Yue; Peng Yun; Gao Peiyi; Nie Binbin; Lu Chuankai; Zhang Liping; Ji Zhiying; Yin Guangheng; Yu Tong; Shan Baoci

    2012-01-01

    Objectives: To identify the related abnormalities of gray matter in pediatric patients with Tourette syndrome (TS) by using the optimized voxel-based morphometry (VBM). Methods: Three dimensional T 1 WI was acquired in 31 TS children (28 boys, 3 girts, mean age 8 years, range 4-15 years) and 50 age- and sex-matched controls on a 1.5 Tesla Philips scanner. Images were pre-processed and analyzed using a version of VBM 2 in SPM 2. The whole brain gray matter volume was compared between the study and control group by using t-test. Multivariate linear regression analysis was used for analyzing the correlation between the change of grey matter volume within each brain region (mm 3 ) and YGTSS score and course of disease of TS patients. Statistical analyses were performed by using SPSS 13.0. Results: Using VBM, significant increases in gray matter volumes in left superior parietal lobule, right cerebellar hemisphere and left parahippocampal gyrus were detected in TS patients, and the volume changes were 4059, 2126 and 84 mm 3 (t=3.93, 3.71, 3.58, P<0.05) respectively. Compared to the control group, decreased grey matter volumes were found in medulla and left pons, and the volume changes were 213 and 117 mm 3 (t=3.53, 3.48, P<0.05)respectively. Tic severity was not correlated with any volume changes of gray matter in brain (P>0.05, a small volume correction, KE ≥ 10 voxel). Tic course was negatively correlated with the gray matter volume of left parahippocampal gyrus (Beta =-0.391, P=0.039). Conclusions: Using VBM technique, the gray matter abnormalities can be revealed in TS patients without obvious lesions on conventional MR imaging. The increasing volume of temporal and parietal lobes and cerebellar may be an adaptive anatomical change in response to experiential demand. The gray matter volume of the parahippocampal gyrus may be used as one potential objective index for evaluating the prognosis of TS. (authors)

  2. Pediatric Specialists

    Science.gov (United States)

    ... Healthy Children > Family Life > Medical Home > Pediatric Specialists Pediatric Specialists Article Body ​Your pediatrician may refer your child to a pediatric specialist for further evaluation and treatment. Pediatric specialists ...

  3. Utility of the Pediatric Sleep Questionnaire and Pulse Oximetry as Screening Tools in Pediatric Patients with Suspected Obstructive Sleep Apnea Syndrome

    Directory of Open Access Journals (Sweden)

    Jose A. Peña-Zarza

    2012-01-01

    Full Text Available Objective. To assess the screening tools in snoring patients. Material and Methods. A retrospective review of data was conducted from children between 2 and 15 years old who were referred on suspicion of obstructive sleep apnea-hypopnea (OSAH between June 2008 and June 2011. We excluded patients with significant comorbidities. Pediatric Sleep Questionnaire (PSQ, physical exam (PE, and pulse-oximetry data were collected and correlated with the results of the nightly polygraph at home. Results. We selected 98 patients. The 22-item version of the PSQ had sensitivity of 96% and specificity of 36.8%. The overall value of the clinic predictor of OSAH (PSQ and PE together exhibited an increased specificity 57.6% with 94.6% of sensitivity. The nocturnal home oximetry method used alone was very specific, 92.1%, but had a lower sensitivity, 77.1%. The set of clinical assessment tools used together with pulse-oximetry screening provided excellent specificity 98.1% and a positive predictive value 94.1% globally. The performance of this screening tool is related with the severity of OSAH and accuracy is better in moderate and severe cases. Conclusion. The combination of clinical assessment and pulse-oximetry screening can provide a sufficient diagnostic approach for pediatric patients with suspected OSAH at least in moderate and severe cases.

  4. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

    Science.gov (United States)

    Sweney, Matthew T; Newcomb, Tara M; Swoboda, Kathryn J

    2015-01-01

    ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Neurological manifestations of dengue viral infection

    Directory of Open Access Journals (Sweden)

    Carod-Artal FJ

    2014-10-01

    Full Text Available Francisco Javier Carod-Artal1,21Neurology Department, Raigmore hospital, Inverness, UK; 2Universitat Internacional de Catalunya (UIC, Barcelona, Spain Abstract: Dengue is the most common mosquito-borne viral infection worldwide. There is increased evidence for dengue virus neurotropism, and neurological manifestations could make part of the clinical picture of dengue virus infection in at least 0.5%–7.4% of symptomatic cases. Neurological complications have been classified into dengue virus encephalopathy, dengue virus encephalitis, immune-mediated syndromes (acute disseminated encephalomyelitis, myelitis, Guillain–Barré syndrome, neuritis brachialis, acute cerebellitis, and others, neuromuscular complications (hypokalemic paralysis, transient benign muscle dysfunction and myositis, and dengue-associated stroke. Common neuro-ophthalmic complications are maculopathy and retinal vasculopathy. Pathogenic mechanisms include systemic complications and metabolic disturbances resulting in encephalopathy, direct effect of the virus provoking encephalitis, and postinfectious immune mechanisms causing immune-mediated syndromes. Dengue viruses should be considered as a cause of neurological disorders in endemic regions. Standardized case definitions for specific neurological complications are still needed. Keywords: encephalitis, encephalopathy, dengue fever, neurological complications

  6. Neurology of ciguatera

    Science.gov (United States)

    Pearn, J

    2001-01-01

    Ciguatera is a widespread ichthyosarcotoxaemia with dramatic and clinically important neurological features. This severe form of fish poisoning may present with either acute or chronic intoxication syndromes and constitutes a global health problem. Ciguatera poisoning is little known in temperate countries as a potentially global problem associated with human ingestion of large carnivorous fish that harbour the bioaccumulated ciguatoxins of the photosynthetic dinoflagellate Gambierdiscus toxicus. This neurotoxin is stored in the viscera of fish that have eaten the dinoflagellate and concentrated it upwards throughout the food chain towards progressively larger species, including humans. Ciguatoxin accumulates in all fish tissues, especially the liver and viscera, of "at risk" species. Both Pacific (P-CTX-1) and Caribbean (C-CTX-1) ciguatoxins are heat stable polyether toxins and pose a health risk at concentrations above 0.1 ppb. The presenting signs of ciguatera are primarily neurotoxic in more than 80% of cases. Such include the pathognomonic features of postingestion paraesthesiae, dysaesthesiae, and heightened nociperception. Other sensory abnormalities include the subjective features of metallic taste, pruritis, arthralgia, myalgia, and dental pain. Cerebellar dysfunction, sometimes diphasic, and weakness due to both neuropathy and polymyositis may be encountered. Autonomic dysfunction leads to hypotension, bradycardia, and hypersalivation in severe cases. Ciguatoxins are potent, lipophilic sodium channel activator toxins which bind to the voltage sensitive (site 5) sodium channel on the cell membranes of all excitable tissues. Treatment depends on early diagnosis and the early administration of intravenous mannitol. The early identification of the neurological features in sentinel patients has the potential to reduce the number of secondary cases in cluster outbreaks.

 PMID:11118239

  7. Pediatric fibromyalgia

    Directory of Open Access Journals (Sweden)

    J. Ablin

    2012-09-01

    Full Text Available Fibromyalgia (FM is currently defined as chronic widespread pain (CWP with allodynia or hyperalgesia to pressure pain. It is classified as one of the large group of soft-tissue pain syndromes. Pain is the cardinal symptom of FM; however, most patients also experience additional symptoms such as debilitating fatigue, disrupted or non-restorative sleep, functional bowel disturbances, and a variety of neuropsychiatric problems, including cognitive dysfunction, anxiety and depressive symptoms. Its pathogenesis is not entirely understood, although it is currently believed to be the result of a central nervous system (CNS malfunction that increases pain transmission and perception. FMS usually involves females, and in these patients it often makes its first appearance during menopause. But it is often diagnosed both in young as well as elderly individuals. Pediatric FMS is a frustrating condition affecting children and adolescents at a crucial stage of their physical and emotional development. Pediatric FMS is an important differential diagnosis to be considered in the evaluation of children suffering from widespread musculoskeletal pain, and must be differentiated from a spectrum of inflammatory joint disorders such as juvenile idiopathic arthritis (JIA, juvenile ankylosing spondylitis, etc. The management of pediatric FMS is centered on the issues of education, behavioral and cognitive change (with a strong emphasis on physical exercise, and a relatively minor role for pharmacological treatment with medications such as muscle relaxants, analgesics and tricyclic agents.

  8. Neurology and neurologic practice in China.

    Science.gov (United States)

    Shi, Fu-Dong; Jia, Jian-Ping

    2011-11-29

    In the wake of dramatic economic success during the past 2 decades, the specialized field of neurology has undergone a significant transformation in China. With an increase in life expectancy, the problems of aging and cognition have grown. Lifestyle alterations have been associated with an epidemiologic transition both in the incidence and etiology of stroke. These changes, together with an array of social issues and institution of health care reform, are creating challenges for practicing neurologists throughout China. Notable problems include overcrowded, decrepit facilities, overloaded physician schedules, deteriorating physician-patient relationships, and an insufficient infrastructure to accommodate patients who need specialized neurologic care. Conversely, with the creation of large and sophisticated neurology centers in many cities across the country, tremendous opportunities exist. Developments in neurologic subspecialties enable delivery of high-quality care. Clinical and translational research based on large patient populations as well as highly sophisticated technologies are emerging in many neurologic centers and pharmaceutical companies. Child neurology and neurorehabilitation will be fast-developing subdisciplines. Given China's extensive population, the growth and progress of its neurology complex, and its ever-improving quality control, it is reasonable to anticipate that Chinese neurologists will contribute notably to unraveling the pathogenic factors causing neurologic diseases and to providing new therapeutic solutions.

  9. Management of mediastinal syndromes in pediatrics: a new challenge of ultrasound guidance to avoid high-risk general anesthesia.

    Science.gov (United States)

    Sola, Chrystelle; Choquet, Olivier; Prodhomme, Olivier; Capdevila, Xavier; Dadure, Christophe

    2014-05-01

    Adverse events associated with anesthetic management of anterior mediastinal masses in pediatrics are common. To avoid an extremely hazardous general anesthesia, the use of real-time ultrasonography offers an effective alternative in high-risk cases. We report the anesthetic management including a light sedation and ultrasound guidance for regional anesthesia, surgical node biopsy, and placement of a central venous line in two children with an anterior symptomatic mediastinal mass. For pediatric patients with clinical and/or radiologic signs of airway compression, ultrasound guidance provides safety technical assistance to avoid general anesthesia and should be performed for the initial diagnostic and therapeutic procedures. © 2013 John Wiley & Sons Ltd.

  10. Neurology as career option among postgraduate medical students

    Directory of Open Access Journals (Sweden)

    Namit B Gupta

    2013-01-01

    Full Text Available Background: In the context of inadequacy of neurology workforce in India, it is important to understand factors that post-graduate medical students consider for and against choosing neurology as their career option. Understanding these factors will help in planning strategies to encourage students to pursue a career in neurology. At present, there is a paucity of studies addressing this issue in India. Aims and Objectives: (1 To analyze factors, which post-graduate students consider for and against choosing neurology as a career specialty. (2 To access the level and quality of neurology exposure in the current MBBS and MD curricula. Materials and Methods: Statewide questionnaire based study was conducted in the state of Maharashtra for students eligible to take DM neurology entrance examination (MD Medicine and MD Pediatrics. Results: In this survey, 243 students were enrolled. Factors bringing students to neurology were - intellectual challenge and logical reasoning (72%, inspired by role model teachers (63%, better quality-of-life (51% and scope for independent practice without expensive infrastructure (48%. Factors preventing students from taking neurology were - perception that most neurological diseases are degenerative (78%, neurology is mainly an academic specialty (40%, neurophobia (43% and lack of procedures (57%. Inadequate exposure and resultant lack of self-confidence were common (31%, 70-80%. 84% of the students felt the need for a short term certification course in neurology after MD. Conclusions: To attract more students to neurology, "role model" teachers of neurology could interact and teach students extensively. Neurologists′ efforts to shed their diagnostician′s image and to shift their focus to therapeutics will help change the image of neurology. Out-patient neurology clinics should be incorporated early in the student′s career. Procedures attract students; hence, they should be made conversant with procedures and

  11. [Current emergency medicine for neurological disorders in children].

    Science.gov (United States)

    Osamura, Toshio

    2010-01-01

    In 2006, the number of pediatric outpatients consulting our hospital during non-practice hours increased by 218.1% of that in 1996. The number of pediatric inpatients during non-practice hours in 2006 increased by 71.3% of that in 1996. In 2006, the number of patients who were admitted with neurological disorders in children during non-practice hours increased to 213.3% of that in 1996. The proportion of these pediatric patients among those who were admitted during non-practice hours was 16.6% in our hospital, suggesting the importance of neurological disorders in pediatric emergency medicine. More than 60% of inpatients with neurological disorders in children were 3 years old or younger. The most common neurological symptoms observed at admission included convulsion (81.6%) and disturbance of consciousness (8.5%). The disorders were mainly febrile seizure (41.4%) and epilepsy (29.0%). Most patients with severe disorders requiring emergency medicine, such as head bruise, acute encephalitis/encephalopathy, purulent meningitis, and head trauma, were admitted during non-practice hours. The prognoses of most neurological disorders in children were favorable. However, patients with sequelae (especially, hypoxic encephalopathy, acute encephalitis/encephalopathy) showed an unfavorable neurological prognosis. Early rehabilitation during admission was useful as a support method for their families. In the future, a comprehensive rehabilitation program for children with acquired brain injury should be established and laws to promote home care must be passed.

  12. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  13. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  14. Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

    Science.gov (United States)

    Itoh, Masayuki; Iwasaki, Yuji; Ohno, Kohsaku; Inoue, Takehiko; Hayashi, Masaharu; Ito, Shuichi; Matsuzaka, Tetsuo; Ide, Shuhei; Arima, Masataka

    2014-05-01

    We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights

  15. Scrub Typhus - A Major Cause of Pediatric Intensive Care Admission and Multiple Organ Dysfunction Syndrome: A Single-Center Experience from India.

    Science.gov (United States)

    Giri, Prabahs Prasun; Roy, Joydeb; Saha, Agnisekhar

    2018-02-01

    Scrub typhus has been globally recognized as an emerging infectious disease contributing significantly to pyrexia of unknown origin (PUO) and a potential cause of multiorgan dysfunction syndrome (MODS). We studied the incidence of scrub typhus as a cause of pediatric intensive care unit (PICU) admission and MODS in our hospital and its clinical and laboratory characteristics to measure the incidence of MODS caused by scrub typhus. This study was done in a pediatric teaching hospital in Kolkata, India. Records of patients admitted with PUO from March 2012 to December 2015 were reviewed. Rathi-Goodman-Aghai scoring system was used to identify potential ST patients and confirmed by serological testing. Clinical characteristics, laboratory findings, and treatment response were noted of those needing PICU admissions. Ninety-seven cases of scrub typhus have been identified during that period. PICU admission was needed in 30 of them (31%) which contributed 8.43% of total PICU admissions. Among these 30 patients, 16 (53%) developed MODS which contributed 18.29% of total MODS admitted in PICU. Septic shock was the most common manifestation in as many as 18 (60%) patients followed by encephalopathy in 13 (43%). Patients were treated with either doxycycline alone or in combination with azithromycin. Mean time to complete defervescence was 32 h after first dose of doxycycline. The outcome was excellent without a single mortality. Scrub typhus is an important cause of MODS in this part of the world, especially in fevers associated with features as identified and not responding to conventional antibiotics.

  16. Prevalence of ''obesity disease'' and ''metabolic syndrome'' in obese pediatric outpatients at the University Hospital of Occupational and Environmental Health, Japan

    International Nuclear Information System (INIS)

    Araki, Shunsuke; Dobashi, Kazushige; Kubo, Kazuyasu; Kawagoe, Rinko; Yamamoto, Yukiyo; Kawada, Yasusada; Shirahata, Akira; Asayama, Kohtaro

    2008-01-01

    'Obesity Disease for Japanese Children' was defined in 2002, and very recently 'Metabolic Syndrome (MS) for Japanese Children' was also defined. We therefore aimed to determine the prevalence of these two among the obese pediatric outpatients at our university hospital. The subjects were 97 children, 58 boys and 39 girls, ranging in age from 5 to 15 years. A child was considered to be obese when the body weight exceeded 120% of the standard body weight. All the subjects exceeded 120% overweight, and 58 children (35 boys and 23 girls) were over 150% overweight. Eighty five children (53 boys and 32 girls) were diagnosed with obesity disease (87.6%). Sixteen children (12 boys and 4 girls) were diagnosed with metabolic syndrome, which was 16.5% of all the subjects and 18.8% of the children with obesity disease. Fourteen of the 16 children with MS were over 10 years old. Obesity disease is diagnosed when the child has an obesity disease score of more than 6. The obesity disease score was significantly correlated with the waist circumference and the visceral adipose tissue area measured by computed tomography. The mean score of the children with MS was significantly higher than that of the non-MS group (30.2 vs. 12.3 points). In this study, it was clear that about 90% of our clinic patients are in the obesity disease group, and need therapeutic interventions. The prevalence of MS in the pediatric age is very low compared with that of adults, but MS is a high-risk category of obesity disease. (author)

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

    Science.gov (United States)

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

    2015-06-01

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

  18. Neurology at the bedside

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Waldemar, Gunhild

    This updated and expanded new edition takes neurology trainees by the hand and guides them through the whole patient encounter - from an efficient neurological history and bedside examination through to differential diagnosis, diagnostic procedures and treatment. At each step the expert authors......, as have new chapters including neurogenetics, neurorehabilitation, neurocritical care and heuristic neurological reasoning. In addition, this second edition now includes more than 100 unique case histories. Neurology at the Bedside, Second Edition is written for neurologists in all stages of training....... Medical students, general practitioners and others with an interest in neurology will also find invaluable information here....

  19. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  20. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  1. Neurologic emergencies in sports.

    Science.gov (United States)

    Williams, Vernon B

    2014-12-01

    Sports neurology is an emerging area of subspecialty. Neurologists and non-neurologists evaluating and managing individuals participating in sports will encounter emergencies that directly or indirectly involve the nervous system. Since the primary specialty of sports medicine physicians and other practitioners involved in the delivery of medical care to athletes in emergency situations varies significantly, experience in recognition and management of neurologic emergencies in sports will vary as well. This article provides a review of information and elements essential to neurologic emergencies in sports for the practicing neurologist, although content may be of benefit to readers of varying background and expertise. Both common neurologic emergencies and less common but noteworthy neurologic emergencies are reviewed in this article. Issues that are fairly unique to sports participation are highlighted in this review. General concepts and principles related to treatment of neurologic emergencies that are often encountered unrelated to sports (eg, recognition and treatment of status epilepticus, increased intracranial pressure) are discussed but are not the focus of this article. Neurologic emergencies can involve any region of the nervous system (eg, brain, spine/spinal cord, peripheral nerves, muscles). In addition to neurologic emergencies that represent direct sports-related neurologic complications, indirect (systemic and generalized) sports-related emergencies with significant neurologic consequences can occur and are also discussed in this article. Neurologists and others involved in the care of athletes should consider neurologic emergencies in sports when planning and providing medical care.

  2. Neurological Disorders in Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    Hugh J Freeman

    2008-01-01

    Full Text Available Celiac disease may initially present as a neurological disorder. Alternatively, celiac disease may be complicated by neurological changes. With impaired nutrient absorption, different deficiency syndromes may occur and these may be manifested clinically with neurological changes. However, in patients with deficiency syndromes, extensive involvement of the small intestine with celiac disease is often evident. There are a number of reports of celiac disease associated with neuropathy, ataxia, dementia and seizure disorder. In these reports, there is no clear relationship with nutrient deficiency and a precise mechanism for the neurological changes has not been defined. A small number of patients have been reported to have responded to vitamin E administration, but most do not. In some, gluten antibodies have also been described, especially in those with ataxia, but a consistent response to a gluten-free diet has not been defined. Screening for celiac disease should be considered in patients with unexplained neurological disorders, including ataxia and dementia. Further studies are needed, however, to determine if a gluten-free diet will lead to improvement in the associated neurological disorder.

  3. Differentiating Delirium From Sedative/Hypnotic-Related Iatrogenic Withdrawal Syndrome: Lack of Specificity in Pediatric Critical Care Assessment Tools.

    Science.gov (United States)

    Madden, Kate; Burns, Michele M; Tasker, Robert C

    2017-06-01

    To identify available assessment tools for sedative/hypnotic iatrogenic withdrawal syndrome and delirium in PICU patients, the evidence supporting their use, and describe areas of overlap between the components of these tools and the symptoms of anticholinergic burden in children. Studies were identified using PubMed and EMBASE from the earliest available date until July 3, 2016, using a combination of MeSH terms "delirium," "substance withdrawal syndrome," and key words "opioids," "benzodiazepines," "critical illness," "ICU," and "intensive care." Review article references were also searched. Human studies reporting assessment of delirium or iatrogenic withdrawal syndrome in children 0-18 years undergoing critical care. Non-English language, exclusively adult, and neonatal intensive care studies were excluded. References cataloged by study type, population, and screening process. Iatrogenic withdrawal syndrome and delirium are both prevalent in the PICU population. Commonly used scales for delirium and iatrogenic withdrawal syndrome assess signs and symptoms in the motor, behavior, and state domains, and exhibit considerable overlap. In addition, signs and symptoms of an anticholinergic toxidrome (a risk associated with some common PICU medications) overlap with components of these scales, specifically in motor, cardiovascular, and psychiatric domains. Although important studies have demonstrated apparent high prevalence of iatrogenic withdrawal syndrome and delirium in the PICU population, the overlap in these scoring systems presents potential difficulty in distinguishing syndromes, both clinically and for research purposes.

  4. Case of neuro-Behcet syndrome with brainstem lesions confirmed by MRI. Relationship between X-ray CT and MRI findings and neurological symptoms

    Energy Technology Data Exchange (ETDEWEB)

    Takizawa, Shunya; Haida, Munetaka; Ohsuga, Hitoshi; Takagi, Shigeharu; Shinohara, Yukito

    1988-03-01

    A 49-year-old man presented with a 30-year history of oral and genital aphthous ulcers and joint pain. One day before his admission he developed double vision and weakness in the right extremities. Neurological examination revealed right 5th nerve palsy, left 6th to 18th nerve palsy, left Horner's sign, and motor and sensory impairment in the right upper and lower extremities. X-ray CT showed diffuse, weak, low-density areas in the brainstem. T1 weighted images showed low signals in the left side of the mid-pons, the left tegmentum and the right basis of the upper pons, and the left tegmentum of the midbrain. T2 weighted images showed high signals in the whole pons and the left side of the midbrain. MRI allowed the differentiation of reversible lesions, such as brain edema, and irreversible lesions, such as necrosis and demyelination of the tissue. (Namekawa, K.).

  5. Neurology check list. 5. rev. and enl. ed.

    International Nuclear Information System (INIS)

    Grehl, Holger; Reinhardt, Frank

    2013-01-01

    The neurology check list covers the following issues, organized in four parts: Grey part - diagnostic fundamentals, therapeutic principles: clinical neurological examination, liquor puncture, specific laboratory diagnostics, neurophysical diagnostics, imaging techniques, therapeutic principles, legal aspects, neurological assessment. Green Part - leading syndromes and leading symptoms. Blue part - neurological disease appearance: pains in head and face, pain syndrome, congenital and development disturbances, liquor circulation disturbances, ZNS hemorrhages, tumors and neoplasm, paraneoplastic syndromes, inflammatory diseases of the nervous system, dementia diseases, metabolic and other encephalopathy, cerebellum diseases and system surmounting processes, movement degeneration, basal ganglion diseases, epilepsy, non-epileptic attacks, medulla diseases, brain nerve diseases, plexus lesions, radicular lesions, peripheric neuropathy, neuromuscular transfer disturbances, muscular diseases. Red part: neurological intensive medicine.

  6. Neurology check list. 5. rev. and enl. ed.; Checkliste Neurologie

    Energy Technology Data Exchange (ETDEWEB)

    Grehl, Holger [Evangelisches und Johanniter Klinikum, Duisburg (Germany). Neurologische Klinik; Reinhardt, Frank

    2013-02-01

    The neurology check list covers the following issues, organized in four parts: Grey part - diagnostic fundamentals, therapeutic principles: clinical neurological examination, liquor puncture, specific laboratory diagnostics, neurophysical diagnostics, imaging techniques, therapeutic principles, legal aspects, neurological assessment. Green Part - leading syndromes and leading symptoms. Blue part - neurological disease appearance: pains in head and face, pain syndrome, congenital and development disturbances, liquor circulation disturbances, ZNS hemorrhages, tumors and neoplasm, paraneoplastic syndromes, inflammatory diseases of the nervous system, dementia diseases, metabolic and other encephalopathy, cerebellum diseases and system surmounting processes, movement degeneration, basal ganglion diseases, epilepsy, non-epileptic attacks, medulla diseases, brain nerve diseases, plexus lesions, radicular lesions, peripheric neuropathy, neuromuscular transfer disturbances, muscular diseases. Red part: neurological intensive medicine.

  7. Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database.

    Science.gov (United States)

    Yılmaz, Ünsal; Anlar, Banu; Gücüyener, Kıvılcım

    2017-11-01

    To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (<12 years) and later-onset (≥12 years) groups were compared. There were 123 (63.7%) girls and 70 (36.3%) boys aged 4-17 years, median 14 years at disease onset. Family history of MS was 6.5%. The first presentation was polysymptomatic in 55.4% of patients, with brainstem syndromes (50.3%), sensory disturbances (44%), motor symptoms (33.2%), and optic neuritis (26.4%) as common initial manifestations. Nineteen children had facial paralysis and 10 had epileptic seizures at first attack; 21 (11%) were initially diagnosed with acute disseminated encephalomyelitis (ADEM). Oligoclonal bands were identified in 68% of patients. Magnetic resonance imaging revealed periventricular (96%), cortical/juxtacortical (64.2%), brainstem (63%), cerebellum (51.4%), and spinal cord (67%) involvement. Visual evoked potentials (VEP) were abnormal in 52%; serum 25-hydroxyvitamin D levels were low in 68.5% of patients. The earlier-onset group had a higher rate of infection/vaccination preceding initial attack, initial diagnosis of ADEM, longer interval between first 2 attacks, and more disability accumulating in the first 3 years of the disease. Brainstem and cerebellum are common sites of clinical and radiological involvement in pediatric-onset MS. VEP abnormalities are frequent even in patients without history of optic neuropathy. Vitamin D status does not appear to affect the course in early disease. MS beginning before 12 years of age has certain characteristics in history and course. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  8. Use of conivaptan to allow aggressive hydration to prevent tumor lysis syndrome in a pediatric patient with large-cell lymphoma and SIADH.

    Science.gov (United States)

    Rianthavorn, Pornpimol; Cain, Joan P; Turman, Martin A

    2008-08-01

    The available treatment options for hyponatremia secondary to SIADH are limited and not completely effective. Conivaptan is a vasopressin 1a and 2 receptor antagonist recently approved by the US Food and Drug Administration (FDA) for treating euvolemic and hypervolemic hyponatremia in adult patients. However, data on efficacy and safety of conivaptan in pediatrics are limited. We report a case of a 13-year-old boy with extensively metastasized anaplastic large-cell lymphoma. He also developed hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion (SIADH) prior to chemotherapy initiation. SIADH management in this case was complicated when fluid restriction was not safely attainable. Conivaptan played a significant role in this situation by allowing provision of a large amount of intravenous fluid prior to and during induction chemotherapy. It proved to be an important component in preventing uric acid nephropathy/tumor lysis syndrome. Conivaptan induced free-water clearance as indicated by increased urine output and decreased urine osmolality. The patient responded to conivaptan without any adverse effects.

  9. Pediatric Sinusitis

    Science.gov (United States)

    ... ENTCareers Marketplace Find an ENT Doctor Near You Pediatric Sinusitis Pediatric Sinusitis Patient Health Information News media interested in ... sinuses are present at birth. Unlike in adults, pediatric sinusitis is difficult to diagnose because symptoms of ...

  10. Pediatric Asthma

    Science.gov (United States)

    ... Science Education & Training Home Conditions Asthma (Pediatric) Asthma (Pediatric) Make an Appointment Refer a Patient Ask a ... meet the rising demand for asthma care. Our pediatric asthma team brings together physicians, nurses, dietitians, physical ...

  11. An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report.

    Science.gov (United States)

    Wallace, Scott A; Ignacio, Romeo C; Klugh, Arnett; Gates, Gregory; Henry, Marion C W

    2015-06-01

    Osteoblastoma is an uncommon primary bone tumor that usually presents as a painful lesion in a long bone or in the spine. Osteoblastoma has been reported only twice in the literature in conjunction with systemic fibromatosis. The authors report the case of an 8-year-old girl with suspected Klippel-Trenaunay-Weber syndrome, a rare syndrome of systemic fibromatosis, who presented with a painless thoracic rib lesion that was found to be an osteoblastoma.

  12. [Charles Miller Fisher: the grandmaster of neurological observation].

    Science.gov (United States)

    Fukutake, Toshio

    2014-11-01

    Charles Miller Fisher is widely regarded as the father of modern stroke neurology. He discovered almost all pathomechanisms of cerebral infarction, including embolism from atrial fibrillation, carotid artery disease, and lacunar infarcts and their syndromes, by the most meticulous clinico-pathological observations. Moreover, his work provided the basis for treatments such as anticoagulation, antiplatelet therapy, and carotid endarterectomy. He also contributed greatly to several topics of General Neurology; for example, migraine, normal pressure hydrocephalus, and Miller Fisher syndrome. In his late years, he tried to expand the neurological field to the more complex disorders of human behavior, including hysteria, dementia, and ill-defined pain syndromes. He thus became known as the grandmaster of refined neurological observation. His lifelong detailed studies were crucially important in helping neurologists all over the world recognize disorders and syndromes that had not previously been understood.

  13. Transcranial Magnetic Stimulation in Child Neurology: Current and Future Directions

    Science.gov (United States)

    Frye, Richard E.; Rotenberg, Alexander; Ousley, Molliann; Pascual-Leone, Alvaro

    2008-01-01

    Transcranial magnetic stimulation (TMS) is a method for focal brain stimulation based on the principle of electromagnetic induction, where small intracranial electric currents are generated by a powerful, rapidly changing extracranial magnetic field. Over the past 2 decades TMS has shown promise in the diagnosis, monitoring, and treatment of neurological and psychiatric disease in adults, but has been used on a more limited basis in children. We reviewed the literature to identify potential diagnostic and therapeutic applications of TMS in child neurology and also its safety in pediatrics. Although TMS has not been associated with any serious side effects in children and appears to be well tolerated, general safety guidelines should be established. The potential for applications of TMS in child neurology and psychiatry is significant. Given its excellent safety profile and possible therapeutic effect, this technique should develop as an important tool in pediatric neurology over the next decade. PMID:18056688

  14. CSF HYPOCRETIN CONCENTRATION IN VARIOUS NEUROLOGICAL AND SLEEP DISORDERS

    OpenAIRE

    Tsutsui, Kou; Kanbayashi, Takashi; Sawaishi, Yukio; Tokunaga, Jun; Sato, Masahiro; Shimizu, Tetsuo

    2011-01-01

    Recent CSF and postmortem brain hypocretin measurements in human narcolepsy suggest that hypocretin deficiency is involved in the pathophysiology of the disease. Thus, it is important to study whether neurological disorders also have abnormal CSF hypocretin levels. We therefore measured hypocretins in the CSF of various neurological disorders and obstructive sleep apnea syndrome (OSAS) to identify altered hypocretin levels. CSF hypocretin levels in patients with OSAS and neurological diseases...

  15. Transient global amnesia and neurological events: the Framingham Heart Study

    OpenAIRE

    Jose Rafael Romero; Jose Rafael Romero; Melissa eMercado; Alexa S Beiser; Alexa S Beiser; Alexa S Beiser; Aleksandra ePikula; Aleksandra ePikula; Sudha eSeshadri; Sudha eSeshadri; Margaret eKelly-Hayes; Philip A Wolf; Philip A Wolf; Carlos S Kase; Carlos S Kase

    2013-01-01

    Background/ objective: Transient global amnesia (TGA) is a temporary amnestic syndrome characterized by lack of other focal neurological deficits. Cerebrovascular disease, migraine and seizures have been suggested as underlying mechanisms. TGA may be a risk factor for cerebrovascular or other neurological events. We studied the relation of TGA, vascular risk factors, brain magnetic resonance imaging (MRI) indices of subclinical ischemia and neurological events in a community-based sample. Des...

  16. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  17. Pediatric acute lung injury

    NARCIS (Netherlands)

    Dahlem, P.; van Aalderen, W. M. C.; Bos, A. P.

    2007-01-01

    Among ventilated children, the incidence of acute lung injury (ALI) was 9%; of that latter group 80% developed the acute respiratory distress syndrome (ARDS). The population-based prevalence of pediatric ARDS was 5.5 cases/100.000 inhabitants. Underlying diseases in children were septic shock (34%),

  18. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.

    Science.gov (United States)

    Kaufmann, Walter E

    2016-12-01

    Increasing knowledge on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. I reviewed here the history of pediatric neurologic disorder classification and the role of genetics in the process. I also discussed the concept of clinical neurogenetics, with its role in clinical practice, education, and research. Finally, I propose a flexible model for clinical neurogenetics in child neurology in the twenty-first century. In combination with disorder-specific clinical programs, clinical neurogenetics can become a home for complex clinical issues, repository of genetic diagnostic advances, educational resource, and research engine in child neurology.

  19. Neurological syndrome in an HIV-prevention trial participant randomized to daily tenofovir disoproxil fumarate (300 mg and emtricitabine (200 mg in Bondo, Kenya

    Directory of Open Access Journals (Sweden)

    Owino F

    2013-11-01

    Full Text Available Fredrick Owino,1 Justin Mandala,2 Julie Ambia,3 Kawango Agot,1 Lut Van Damme2 1Impact Research and Development Organization, Kisumu, Kenya; 2Department of Global Health, Population, and Nutrition, FHI 360, Washington, DC, USA; 3KAVI-Institute of Clinical Research, University of Nairobi, Nairobi, Kenya Abstract: Side effects of antiretroviral drug use by HIV-positive patients have been extensively studied; however, there are limited data on the side effects of antiretroviral drugs used as an HIV prophylaxis among healthy, HIV-negative individuals. Here we report on an unusual neuropathy in a 24-year-old participant in the FEM-PrEP trial. This was a Phase III randomized, double blind, placebo-controlled trial to test the safety and effectiveness of tenofovir disoproxil fumarate (300 mg and emtricitabine (200 mg (TDF-FTC to prevent HIV. At the eighth week of taking TDF-FTC with moderate adherence, the participant complained of mild paresthesiae, numbness, and a tingling sensation in her upper limbs that was associated with pain and cold. After an additional 4 days, she developed a disabling weakness of her upper limbs and tremors in her hands. The study product was discontinued, and within 2 weeks she was free of all symptoms. One month after restarting the drug, she complained of posture-dependent numbness of her upper limbs. Results of clinical and neurological exams, laboratory tests, and magnetic resonance imaging are described here. Keywords: pre-exposure prophylaxis, toxic neuropathy, NRTI

  20. [Neurology! Adieau? (Part 2)].

    Science.gov (United States)

    Szirmai, Imre

    2010-05-30

    The education of neurologists is debilitated worldwide. University professors are engaged in teaching, research and patient-care. This triple challenge is very demanding, and results in permanent insecurity of University employees. To compensate for the insufficient clinical training, some institutes in the USA employ academic staff members exclusively for teaching. The formation of new subspecialties hinders the education and training of general neurologists. At present, four generations of medical doctors are working together in hospitals. The two older generations educate the younger neurologists who have been brought up in the world of limitless network of sterile information. Therefore their manual skills at the bedside and their knowledge of emergency treatment are deficient. Demographics of medical doctors changed drastically. Twice as many women are working in neurology and psychiatry than men. Integrity of neurology is threatened by: (1) Separation of the cerebrovascular diseases from general neurology. Development of "stroke units" was facilitated by the better reimbursement for treatment and by the interest of the pharmaceutical companies. Healthcare politics promoted the split of neurology into two parts. The independent status of "stroke departments" will reduce the rest of clinical neurology to outpatient service. (2) The main argumentation to segregate the rare neurological diseases was that their research will provide benefit for the diseases with high prevalence. This argumentation serves territorial ambitions. The separation of rare diseases interferes with the teaching of differential diagnostics in neurological training. The traditional pragmatic neurology can not be retrieved. The faculty of neurology could retain its integrity by the improvement of diagnostic methods and the ever more effective drugs. Nevertheless, even the progression of neurological sciences induces dissociation of clinical neurology. Neurology shall suffer fragmentation if

  1. Pain Amplification Syndrome: A Biopsychosocial Approach.

    Science.gov (United States)

    Namerow, Lisa B; Kutner, Emily C; Wakefield, Emily C; Rzepski, Barbara R; Sahl, Robert A

    2016-08-01

    Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception. Pediatric neurologists are imperative in the identification of patients with PAS, providing the family assurance in diagnosis and validation of pain, and directing patients to the appropriate multidisciplinary treatment pathway. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Somatoform dissociation and posttraumatic stress syndrome - two sides of the same medal? A comparison of symptom profiles, trauma history and altered affect regulation between patients with functional neurological symptoms and patients with PTSD.

    Science.gov (United States)

    Kienle, Johanna; Rockstroh, Brigitte; Bohus, Martin; Fiess, Johanna; Huffziger, Silke; Steffen-Klatt, Astrid

    2017-07-11

    History of traumatic experience is common in dissociative disorder (DD), and similarity of symptoms and characteristics between DD and posttraumatic stress disorder (PTSD) encouraged to consider DD as trauma-related disorder. However, conceptualization of DD as a trauma-related syndrome would critically affect diagnosis and treatment strategies. The present study addressed overlap and disparity of DD and PTSD by directly comparing correspondence of symptoms, adverse/traumatic experience, and altered affect regulation between patients diagnosed with dissociative disorder (characterized by negative functional neurological symptoms) and patients diagnosed with PTSD. Somatoform and psychoform dissociation, symptoms of posttraumatic stress, general childhood adversities and lifetime traumata, and alexithymia as index of altered affect regulation were screened with standardized questionnaires and semi-structured interviews in 60 patients with DD (ICD-codes F44.4, F44.6, F44.7), 39 patients with PTSD (ICD-code F43.1), and 40 healthy comparison participants (HC). DD and PTSD patients scored higher than HC on somatoform and psychoform dissociative symptom scales and alexithymia, and reported more childhood adversities and higher trauma load. PTSD patients reported higher symptom severity and more traumata than DD patients. Those 20 DD patients who met criteria of co-occuring PTSD did not differ from PTSD patients in the amount of reported symptoms of somatoform dissociation, physical and emotional childhood adversities and lifetime traumata, while emotional neglect/abuse in childhood distinguished DD patients with and without co-occuring PTSD (DD patients with co-occuring PTSD reporting more emotional maltreatment). The pattern of distinctive somatoform and psychoform dissociative symptom severity, type of childhood and lifetime traumata, and amount of alexithymia suggests that DD and PTSD are distinctive syndromes and, therefore, challenges the conceptualization of DD as

  3. N-Acetylcysteine in the Treatment of Pediatric Tourette Syndrome: Randomized, Double-Blind, Placebo-Controlled Add-On Trial.

    Science.gov (United States)

    Bloch, Michael H; Panza, Kaitlyn E; Yaffa, Alisa; Alvarenga, Pedro G; Jakubovski, Ewgeni; Mulqueen, Jilian M; Landeros-Weisenberger, Angeli; Leckman, James F

    2016-05-01

    Current pharmacological treatments for Tourette Syndrome (TS), such as antipsychotic agents and α-2 agonists, are moderately effective in the treatment of tics, but have substantial side effects that limit their use. N-acetylcysteine (NAC) modulates glutamatergic systems, and has been used safely as an antioxidant agent with minimal side effects for decades. NAC has been increasingly studied for the treatment of other obsessive-compulsive spectrum disorders. We aim to examine the efficacy of NAC for the treatment of pediatric TS in a double-blind, placebo-controlled, add-on study. Thirty-one children and adolescents 8-17 years of age with TS were randomly assigned to receive NAC or matching placebo for 12 weeks. Our primary outcome was change in severity of tics as measured by the Yale Global Tic Severity Scale (YGTSS), Total tic score. Secondary measures assessed comorbid obsessive-compulsive disorder (OCD), depression, anxiety, and attention-deficit/hyperactivity disorder (ADHD). Linear mixed models in SAS were used to examine differences between NAC and placebo. Of 31 randomized subjects, 14 were assigned to placebo (two females; 11.5 + 2.8 years) and 17 to active NAC (five females; 12.4 + 1.4 years) treatment. No significant difference between NAC and placebo was found in reducing tic severity or any secondary outcomes. We found no evidence for efficacy of NAC in treating tic symptoms. Our findings stand in contrast to studies suggesting benefits of NAC in the treatment of other obsessive-compulsive spectrum disorders in adults, including OCD and trichotillomania, but are similar to a recent placebo-controlled trial of pediatric trichotillomania that found no benefit of NAC.

  4. Intervertebral Disc Characteristic on Progressive Neurological Deficit

    Directory of Open Access Journals (Sweden)

    Farid Yudoyono

    2017-09-01

    Full Text Available Objective: To examine the intervertebral disc characteristic on magnetic resonance imaging (MRI in lumbar herniated disc (LHD patients with progressive neurological deficit. Methods: Patients were collected retrospectively from Dr. Hasan Sadikin General Hospital Database from 2011–2013 with LHD, had neurological deficit such as radiculopathy and cauda equine syndrome for less than four weeks with a positive sign confirmed by neurological examination and confirmatory with MRI examination. Results: A total of 14 patients with lumbar herniated disc disease (10 males, 4 females suffered from progressive neurological deficit with an average age of (52.07±10.9 years old. Early disc height was 9.38±0.5 mm and progressive neurological deficit state disc height was 4.03±0.53 mm, which were significantly different statisticaly (p<0.01. Symptoms of radiculopathy were seen in 11 patients and cauda equine syndrome in three patients. Modic changes grade 1 was found in five patients, grade 2 in eight patients,grade 3 in one patient, Pfirmman grade 2 in eleven patients and grade 3 in three patients. Thecal sac compression 1/3 compression was seen in four patients and 2/3 compression in ten patients. Conclusions: Neurosurgeon should raise concerns on the characteristic changes of intervertebral disc in magnetic resonance imaging examination to avoid further neural injury in lumbar herniated disc patients.

  5. Neurology at the bedside

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Waldemar, Gunhild

    , as have new chapters including neurogenetics, neurorehabilitation, neurocritical care and heuristic neurological reasoning. In addition, this second edition now includes more than 100 unique case histories. Neurology at the Bedside, Second Edition is written for neurologists in all stages of training...

  6. Feasibility, Reproducibility, and Clinical Validity of the Pediatric Anxiety Rating Scale--Revised for Fragile X Syndrome

    Science.gov (United States)

    Russo-Ponsaran, Nicole M.; Yesensky, Jessica; Hessl, David; Berry-Kravis Elizabeth

    2014-01-01

    Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common known genetic cause of autism. FXS is associated with psychiatric impairments, including anxiety disorders. There is a paucity of well-developed measures to characterize anxiety in FXS. However, such scales are needed to measure therapeutic…

  7. The menagerie of neurology

    Science.gov (United States)

    Beh, Shin C.; Frohman, Teresa; Frohman, Elliot M.

    2014-01-01

    Summary Neurology is a field known for “eponymophilia.” While eponym use has been a controversial issue in medicine, animal-related metaphoric descriptions continue to flourish in neurologic practice, particularly with the advent of neuroimaging. To provide practicing and trainee neurologists with a useful reference for all these colorful eponyms, we performed a literature review and summarized the various animal eponyms in the practice of neurology (and their etiologic implications) to date. We believe that the ability to recognize animal-like attributes in clinical neurology and neuroradiology may be attributed to a visual phenomenon known as pareidolia. We propose that animal eponyms are a useful method of recognizing clinical and radiologic patterns that aid in the diagnostic process and therefore are effective aidesmémoire and communicative tools that enliven and improve the practice of neurology. PMID:29473555

  8. Two cases of cervical disc disease with intramedullary pathological changes, which are responsible for their neurological syndromes, on delayed CT myelography

    International Nuclear Information System (INIS)

    Isu, Toyohiko; Iwasaki, Yoshinobu; Abe, Hiroshi; Tashiro, Kunio; Murai, Hiroshi; Miyasaka, Kazuo

    1987-01-01

    We report two cases of cervical disc disease with myelopathy classified as of motor system syndrome type showing small contrast accumulation within the spinal cord on delayed CT myelography. In our two cases, high density spots on delayed CT myelography were bilaterally localized within the spinal cord, and believed represent pathological changes of the spinal cord, such as collection of microcavities or cystic necrosis. In case 1, the high density areas seemed to be localized in the anterior horn and corticospinal tract, and in case 2, they seemed to be localized in the corticospinal tract. The patient in case 1 produced signs and symptoms resembling motor neurone disease and lesion could not be differentiated from the latter. Delayed CT myelography showed that the cause of the upper limb amyotrophy was attributed to an anterior horn disorder and that of pyramidal tract sign to a corticospinal tract disorder. Therefore, we could differentiate the lesion from motor neurone disease on delayed CT myelography in case 1. In conclusion, we emphasize that delayed CT myelography can demonstrate the intramedullary pathological changes in the cervical disc disease and is useful in distinguishing between cervical disc disease simulating motor neurone disease and the latter. (author)

  9. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Neurology in Asia.

    Science.gov (United States)

    Tan, Chong-Tin

    2015-02-10

    Asia is important as it accounts for more than half of the world population. The majority of Asian countries fall into the middle income category. As for cultural traditions, Asia is highly varied, with many languages spoken. The pattern of neurologic diseases in Asia is largely similar to the West, with some disease features being specific to Asia. Whereas Asia constitutes 60% of the world's population, it contains only 20% of the world's neurologists. This disparity is particularly evident in South and South East Asia. As for neurologic care, it is highly variable depending on whether it is an urban or rural setting, the level of economic development, and the system of health care financing. To help remedy the shortage of neurologists, most counties with larger populations have established training programs in neurology. These programs are diverse, with many areas of concern. There are regional organizations serving as a vehicle for networking in neurology and various subspecialties, as well as an official journal (Neurology Asia). The Asian Epilepsy Academy, with its emphasis on workshops in various locations, EEG certification examination, and fellowships, may provide a template of effective regional networking for improving neurology care in the region. © 2015 American Academy of Neurology.

  11. Quantification In Neurology

    Directory of Open Access Journals (Sweden)

    Netravati M

    2005-01-01

    Full Text Available There is a distinct shift of emphasis in clinical neurology in the last few decades. A few years ago, it was just sufficient for a clinician to precisely record history, document signs, establish diagnosis and write prescription. In the present context, there has been a significant intrusion of scientific culture in clinical practice. Several criteria have been proposed, refined and redefined to ascertain accurate diagnosis for many neurological disorders. Introduction of the concept of impairment, disability, handicap and quality of life has added new dimension to the measurement of health and disease and neurological disorders are no exception. "Best guess" treatment modalities are no more accepted and evidence based medicine has become an integral component of medical care. Traditional treatments need validation and new therapies require vigorous trials. Thus, proper quantification in neurology has become essential, both in practice and research methodology in neurology. While this aspect is widely acknowledged, there is a limited access to a comprehensive document pertaining to measurements in neurology. This following description is a critical appraisal of various measurements and also provides certain commonly used rating scales/scores in neurological practice.

  12. Secondary Abnormalities of Neurotransmitters in Infants with Neurological Disorders

    Science.gov (United States)

    Garcia-Cazorla, A.; Serrano, M.; Perez-Duenas, B.; Gonzalez, V.; Ormazabal, A.; Pineda, M.; Fernandez-Alvarez, E.; Campistol, J. M. D.; Artuch, R. M. D.

    2007-01-01

    Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants…

  13. Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

    Science.gov (United States)

    Zawitkowska, Joanna; Odój, Teresa; Drabko, Katarzyna; Zaucha-Prażmo, Agnieszka; Rudnicka, Julia; Romiszewski, Michał; Matysiak, Michał; Kwiecińska, Kinga; Ćwiklińska, Magdalena; Balwierz, Walentyna; Owoc-Lempach, Joanna; Derwich, Katarzyna; Wachowiak, Jacek; Niedźwiecki, Maciej; Adamkiewicz-Drożyńska, Elżbieta; Trelińska, Joanna; Młynarski, Wojciech; Kołtan, Andrzej; Wysocki, Mariusz; Tomaszewska, Renata; Szczepański, Tomasz; Płonowski, Marcin; Krawczuk-Rybak, Maryna; Ociepa, Tomasz; Urasiński, Tomasz; Mizia-Malarz, Agnieszka; Sobol-Milejska, Grażyna; Karolczyk, Grażyna; Kowalczyk, Jerzy

    2017-05-01

    Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

  14. Neurology and international organizations.

    Science.gov (United States)

    Mateen, Farrah J

    2013-07-23

    A growing number of international stakeholders are engaged with neurologic diseases. This article provides a brief overview of important international stakeholders in the practice of neurology, including global disease-specific programs, United Nations agencies, governmental agencies with international influence, nongovernmental organizations, international professional organizations, large private donors, private-public partnerships, commercial interests, armed forces, and universities and colleges. The continued engagement of neurologists is essential for the growing number of international organizations that can and should incorporate neurologic disease into their global agendas.

  15. William Shakespeare's neurology.

    Science.gov (United States)

    Paciaroni, Maurizio; Bogousslavsky, Julien

    2013-01-01

    Many of Shakespeare's plays contain characters who appear to be afflicted by neurological or psychiatric disorders. Shakespeare, in his descriptive analysis of his protagonists, was contributing to the understanding of these disorders. In fact, Charcot frequently used Shakespearean references in his neurological teaching sessions, stressing how acute objective insight is essential to achieving expert clinical diagnosis. Charcot found in Shakespeare the same rigorous observational techniques for which he himself became famous. This chapter describes many of Shakespearean characters suffering from varied neurological disorders, including Parkinsonism, epilepsy, sleeping disturbances, dementia, headache, prion disease, and paralyses. © 2013 Elsevier B.V. All rights reserved.

  16. Pancreatic Fat Is Associated With Metabolic Syndrome and Visceral Fat but Not Beta-Cell Function or Body Mass Index in Pediatric Obesity.

    Science.gov (United States)

    Staaf, Johan; Labmayr, Viktor; Paulmichl, Katharina; Manell, Hannes; Cen, Jing; Ciba, Iris; Dahlbom, Marie; Roomp, Kirsten; Anderwald, Christian-Heinz; Meissnitzer, Matthias; Schneider, Reinhard; Forslund, Anders; Widhalm, Kurt; Bergquist, Jonas; Ahlström, Håkan; Bergsten, Peter; Weghuber, Daniel; Kullberg, Joel

    2017-03-01

    Adolescents with obesity have increased risk of type 2 diabetes and metabolic syndrome (MetS). Pancreatic fat has been related to these conditions; however, little is known about associations in pediatric obesity. The present study was designed to explore these associations further. We examined 116 subjects, 90 with obesity. Anthropometry, MetS, blood samples, and oral glucose tolerance tests were assessed using standard techniques. Pancreatic fat fraction (PFF) and other fat depots were quantified using magnetic resonance imaging. The PFF was elevated in subjects with obesity. No association between PFF and body mass index-standard deviation score (BMI-SDS) was found in the obesity subcohort. Pancreatic fat fraction correlated to Insulin Secretion Sensitivity Index-2 and Homeostatic Model Assessment of Insulin Resistance in simple regression; however, when using adjusted regression and correcting for BMI-SDS and other fat compartments, PFF correlated only to visceral adipose tissue and fasting glucose. Highest levels of PFF were found in subjects with obesity and MetS. In adolescents with obesity, PFF is elevated and associated to MetS, fasting glucose, and visceral adipose tissue but not to beta-cell function, glucose tolerance, or BMI-SDS. This study demonstrates that conclusions regarding PFF and its associations depend on the body mass features of the cohort.

  17. Clinical utility of the Chinese version of the Pediatric Daytime Sleepiness Scale in children with obstructive sleep apnea syndrome and narcolepsy.

    Science.gov (United States)

    Yang, Chien-Ming; Huang, Yu-Shu; Song, Yu-Chen

    2010-04-01

    The present study examined the psychometric properties of the Chinese version of the Pediatric Daytime Sleepiness Scale (PDSS) and the utility of the PDSS as a screening tool for pathological daytime sleepiness in teenagers with obstructive sleep apnea (OSA) and narcolepsy. The PDSS was first administered to 238 middle and high school students to assess the reliability of the scale, and then administered to 28 teenagers with OSA, 31 teenagers with narcolepsy, and 34 normal controls to evaluate its clinical utility. Test-retest reliability and internal consistency were acceptable. The PDSS scores were significantly higher in narcoleptic subjects than in subjects with OSA, and higher in OSA syndrome (OSAS) subjects than normal controls. Furthermore, the scores decreased in narcoleptic subjects after medical treatment. Both reliability and validity were proven to be good. As a screening tool for narcolepsy, receiver operator characteristic (ROC) curve analysis showed that the PDSS, with a cut-off score of 16/17, had good sensitivity (87.1%) and fair specificity (74.3%) for identifying individuals with narcolepsy. When used for screening OSA, however, the differentiating power was not as good. The PDSS is a reliable and valid tool for the measurement of sleepiness in clinical youth populations. When used as a screening tool, it is useful for sleep disorders involving more severe pathological sleepiness, as in narcolepsy.

  18. Pediatric Uveitis.

    Science.gov (United States)

    Chan, Nicole Shu-Wen; Choi, Jessy; Cheung, Chui Ming Gemmy

    2018-01-01

    Pediatric uveitis differs from adult-onset uveitis and is a topic of special interest because of its diagnostic and therapeutic challenges. Children with uveitis are often asymptomatic and the uveitis is often chronic, persistent, recurrent, and resistant to conventional treatment. Anterior uveitis is the most common type of uveitis in children; the prevalence of intermediate, posterior, and panuveitis varies geographically and among ethnic groups. Regarding etiology, most cases of pediatric uveitis are idiopathic but can be due to systemic inflammatory disorders, infections, or a manifestation of masquerade syndrome. Ocular complications include cataracts, hypotony or glaucoma, band keratopathy, synechiae formation, macular edema, optic disc edema, choroidal neovascular membranes, and retinal detachment. These complications are often severe, leading to irreversible structural damage and significant visual disability due to delayed presentation and diagnosis, persistent chronic inflammation from suboptimal treatment, topical and systemic corticosteroid dependence, and delayed initiation of systemic disease‒modifying agents. Treatment for noninfectious uveitis is a stepwise approach starting with corticosteroids. Immunomodulatory therapy should be initiated in cases where quiescence cannot be achieved without steroid dependence. Patients should be monitored regularly for complications of uveitis along with systemic and ocular adverse effects from treatments. The goals are to achieve steroid-free durable remission, to reduce the risk of sight-threatening complications from the uncontrolled ocular inflammation, and to avoid the impact of lifelong burden of visual loss on the child and their family. Multidisciplinary management will ensure holistic care of affected children and improve the support for their families. Copyright 2018 Asia-Pacific Academy of Ophthalmology.

  19. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  20. Neurological sequelae of bacterial meningitis

    NARCIS (Netherlands)

    Lucas, Marjolein J.; Brouwer, Matthijs C.; van de Beek, Diederik

    2016-01-01

    We reported on occurrence and impact of neurological sequelae after bacterial meningitis. We reviewed occurrence of neurological sequelae in children and adults after pneumococcal and meningococcal meningitis. Most frequently reported sequelae are focal neurological deficits, hearing loss, cognitive

  1. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  2. Perinatal pharmacology: applications for neonatal neurology.

    Science.gov (United States)

    Smits, Anne; Allegaert, Karel

    2011-11-01

    The principles of clinical pharmacology also apply to neonates, but their characteristics warrant a tailored approach. We focus on aspects of both developmental pharmacokinetics (concentration/time relationship) and developmental pharmacodynamics (concentration/effect relationship) in neonates. We hereby aimed to link concepts used in clinical pharmacology with compound-specific observations (anti-epileptics, analgosedatives) in the field of neonatal neurology. Although in part anecdotal, we subsequently illustrate the relevance of developmental pharmacology in the field of neonatal neurology by a specific intervention (e.g. whole body cooling), specific clinical presentations (e.g. short and long term outcome following fetal exposure to antidepressive agents, the development of new biomarkers for fetal alcohol syndrome) and specific clinical needs (e.g. analgosedation in neonates, excitocytosis versus neuro-apoptosis/impaired synaptogenesis). Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  3. Epigenetic mechanisms in neurological disease.

    Science.gov (United States)

    Jakovcevski, Mira; Akbarian, Schahram

    2012-08-01

    The exploration of brain epigenomes, which consist of various types of DNA methylation and covalent histone modifications, is providing new and unprecedented insights into the mechanisms of neural development, neurological disease and aging. Traditionally, chromatin defects in the brain were considered static lesions of early development that occurred in the context of rare genetic syndromes, but it is now clear that mutations and maladaptations of the epigenetic machinery cover a much wider continuum that includes adult-onset neurodegenerative disease. Here, we describe how recent advances in neuroepigenetics have contributed to an improved mechanistic understanding of developmental and degenerative brain disorders, and we discuss how they could influence the development of future therapies for these conditions.

  4. Neurologic complications in oncology

    Directory of Open Access Journals (Sweden)

    Andrea Pace

    2010-06-01

    Full Text Available Neurologic side effects related to cancer therapy are a common problem in oncology practice. These complications can negatively affect the management of the patient, because they can inhibit treatment and diminish quality of life. Therefore specific skills are required to recognise symptoms and clinical manifestations. This review focuses on the most common neurologic complications to improve physician’s familiarity in determining the aetiology of these symptoms.

  5. Neurological complications in hyperemesis gravidarum.

    Science.gov (United States)

    Zara, Gabriella; Codemo, Valentina; Palmieri, Arianna; Schiff, Sami; Cagnin, Annachiara; Citton, Valentina; Manara, Renzo

    2012-02-01

    Hyperemesis gravidarum can impair correct absorption of an adequate amount of thiamine and can cause electrolyte imbalance. This study investigated the neurological complications in a pregnant woman with hyperemesis gravidarum. A 29-year-old pregnant woman was admitted for hyperemesis gravidarum. Besides undernutrition, a neurological examination disclosed weakness with hyporeflexia, ophthalmoparesis, multidirectional nystagmus and optic disks swelling; the patient became rapidly comatose. Brain MRI showed symmetric signal hyperintensity and swelling of periaqueductal area, hypothalamus and mammillary bodies, medial and posterior portions of the thalamus and columns of fornix, consistent with Wernicke encephalopathy (WE). Neurophysiological studies revealed an axonal sensory-motor polyneuropathy, likely due to thiamine deficiency or critical illness polyneuropathy. Sodium and potassium supplementation and parenteral thiamine were administered with improvement of consciousness state in a few days. WE evolved in Korsakoff syndrome. A repeat MRI showed a marked improvement of WE-related alterations and a new hyperintense lesion in the pons, suggestive of central pontine myelinolysis. No sign or symptom due to involvement of the pons was present.

  6. Neuroelectrophysiological studies on neurological autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Yin-hong LIU

    2014-09-01

    Full Text Available The neuroelectrophysiological manifestations of four clinical typical neurological autoimmune diseases including multiple sclerosis (MS, Guillain-Barré syndrome (GBS, myasthenia gravis (MG, and polymyositis and dermatomyositis were reviewed in this paper. The diagnostic value of evoked potentials for multiple sclerosis, nerve conduction studies (NCS for Guillain-Barré syndrome, repetitive nerve stimulation (RNS and single-fiber electromyography (SFEMG for myasthenia gravis, and needle electromyography for polymyositis and dermatomyositis were respectively discussed. This review will help to have comprehensive understanding on electrophysiological examinations and their clinical significance in the diagnosis of neurological autoimmune diseases. doi: 10.3969/j.issn.1672-6731.2014.09.004

  7. Neurological manifestations of Chikungunya and Zika infections

    Directory of Open Access Journals (Sweden)

    Talys J. Pinheiro

    Full Text Available ABSTRACT The epidemics of Chikungunya virus (CHIKV and Zika virus (ZIKV infections have been considered the most important epidemiological occurrences in the Americas. The clinical picture of CHIKV infection is characterized by high fever, exanthema, myalgia, headaches, and arthralgia. Besides the typical clinical picture of CHIKV, atypical manifestations of neurological complications have been reported: meningo-encephalitis, meningoencephalo-myeloradiculitis, myeloradiculitis, myelitis, myeloneuropathy, Guillain-Barré syndrome and others. The diagnosis is based on clinical, epidemiological, and laboratory criteria. The most common symptoms of ZIKV infection are skin rash (mostly maculopapular, fever, arthralgia, myalgia, headache, and conjunctivitis. Some epidemics that have recently occurred in French Polynesia and Brazil, reported the most severe conditions, with involvement of the nervous system (Guillain-Barré syndrome, transverse myelitis, microcephaly and meningitis. The treatment for ZIKV and CHIKV infections are symptomatic and the management for neurological complications depends on the type of affliction. Intravenous immunoglobulin, plasmapheresis, and corticosteroid pulse therapy are options.

  8. Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

    Directory of Open Access Journals (Sweden)

    Rezaee Fariba

    2008-05-01

    Full Text Available Abstract The coexistence of systemic lupus erythematosus (SLE in patients with congenital human immunodeficiency virus (HIV infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS.

  9. Wikipedia and neurological disorders.

    Science.gov (United States)

    Brigo, Francesco; Igwe, Stanley C; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, Willem M

    2015-07-01

    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopedia used by patients and physicians to search for health-related information. The following Wikipedia articles were considered: Alzheimer's disease; Amyotrophic lateral sclerosis; Dementia; Epilepsy; Epileptic seizure; Migraine; Multiple sclerosis; Parkinson's disease; Stroke; Traumatic brain injury. We analyzed information regarding the total article views for 90 days and the rank of these articles among all those available in Wikipedia. We determined the highest search volume peaks to identify possible relation with online news headlines. No relation between incidence or prevalence of neurological disorders and the search volume for the related articles was found. Seven out of 10 neurological conditions showed relations in search volume peaks and news headlines. Six out of these seven peaks were related to news about famous people suffering from neurological disorders, especially those from showbusiness. Identification of discrepancies between disease burden and health seeking behavior on Wikipedia is useful in the planning of public health campaigns. Celebrities who publicly announce their neurological diagnosis might effectively promote awareness programs, increase public knowledge and reduce stigma related to diagnoses of neurological disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Neurological complications of Zika virus infection.

    Science.gov (United States)

    Carod-Artal, Francisco Javier

    2018-04-26

    Zika virus (ZIKV) disease is a vector-borne infectious disease transmitted by Aedes mosquitoes. Recently, ZIKV has caused outbreaks in most American countries. Areas covered: Publications about neurological complications of ZIKV infection retrieved from pubmed searchers were reviewed, and reference lists and relevant articles from review articles were also examined. Vertical/intrauterine transmission leads to congenital infection and causes microcephaly and congenital ZIKV syndrome. ZIKV preferentially infects human neural progenitor cells and triggers cell apoptosis. ZIKV RNA has been identified in foetal brain tissue and brains of microcephalic infants who died; amniotic fluid and placentas of pregnant mothers; and umbilical cord, cerebro-spinal fluid and meninges of newborns. The increase in the number of Guillain-Barre syndrome (GBS) cases during the ZIKV outbreak in the Americas provides epidemiological evidence for the link between ZIKV infection and GBS. Less frequently reported ZIKV neurological complications include encephalitis/meningoencephalitis, acute disseminated encephalomyelitis, myelitis, cerebrovascular complications (ischemic infarction; vasculopathy), seizures and encephalopathy, sensory polyneuropathy and sensory neuronopathy. Analysis of GBS incidence could serve as an epidemiological 'marker' or sentinel for ZIKV disease and other neurological complications associated to ZIKV. Expert commentary: An expanding spectrum of neurological complications associated with ZIKV infection is being recognised.

  11. The child neurology clinical workforce in 2015

    Science.gov (United States)

    Bale, James F.; Mintz, Mark; Joshi, Sucheta M.; Gilbert, Donald L.; Radabaugh, Carrie; Ruch-Ross, Holly

    2016-01-01

    Objectives: More than a decade has passed since the last major workforce survey of child neurologists in the United States; thus, a reassessment of the child neurology workforce is needed, along with an inaugural assessment of a new related field, neurodevelopmental disabilities. Methods: The American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey in 2015 of child neurologists and neurodevelopmental disabilities specialists. Results: The majority of respondents participate in maintenance of certification, practice in academic medical centers, and offer subspecialty care. EEG reading and epilepsy care are common subspecialty practice areas, although many child neurologists have not had formal training in this field. In keeping with broader trends, medical school debts are substantially higher than in the past and will often take many years to pay off. Although a broad majority would choose these fields again, there are widespread dissatisfactions with compensation and benefits given the length of training and the complexity of care provided, and frustrations with mounting regulatory and administrative stresses that interfere with clinical practice. Conclusions: Although not unique to child neurology and neurodevelopmental disabilities, such issues may present barriers for the recruitment of trainees into these fields. Creative approaches to enhance the recruitment of the next generation of child neurologists and neurodevelopmental disabilities specialists will benefit society, especially in light of all the exciting new treatments under development for an array of chronic childhood neurologic disorders. PMID:27566740

  12. Genetics Home Reference: Moebius syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (5 links) Children's Craniofacial Association: A Guide to Understanding Moebius Syndrome ( ...

  13. Pediatric Stroke

    Science.gov (United States)

    ... and Patient Resources Home » Patients & Families » About Stroke » Pediatric Stroke » Introduction Introduction What is a Stroke? Ischemic Stroke Intracerebral Hemorrhage Subarachnoid Hemorrhage Pediatric Stroke Introduction Types of Stroke Diagnosis and Treatment ...

  14. Myocarditis - pediatric

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/007307.htm Myocarditis - pediatric To use the sharing features on this page, please enable JavaScript. Pediatric myocarditis is inflammation of the heart muscle in ...

  15. Dengue: a new challenge for neurology

    Directory of Open Access Journals (Sweden)

    Marzia Puccioni-Sohler

    2012-11-01

    Full Text Available Dengue infection is a leading cause of illness and death in tropical and subtropical regions of the world. Forty percent of the world’s population currently lives in these areas. The clinical picture resulting from dengue infection can range from relatively minor to catastrophic hemorrhagic fever. Recently, reports have increased of neurological manifestations. Neuropathogenesis seems to be related to direct nervous system viral invasion, autoimmune reaction, metabolic and hemorrhagic disturbance. Neurological manifestations include encephalitis, encephalopathy, meningitis, Guillain-Barré syndrome, myelitis, acute disseminated encephalomyelitis, polyneuropathy, mononeuropathy, and cerebromeningeal hemorrhage. The development of neurological symptoms in patients with positive Immunoglobulin M (IgM dengue serology suggests a means of diagnosing the neurological complications associated with dengue. Viral antigens, specific IgM antibodies, and the intrathecal synthesis of dengue antibodies have been successfully detected in cerebrospinal fluid. However, despite diagnostic advancements, the treatment of neurological dengue is problematic. The launch of a dengue vaccine is expected to be beneficial.

  16. Heritability, parental transmission and environment correlation of pediatric-onset type 2 diabetes mellitus and metabolic syndrome-related traits.

    Science.gov (United States)

    Miranda-Lora, América L; Vilchis-Gil, Jenny; Molina-Díaz, Mario; Flores-Huerta, Samuel; Klünder-Klünder, Miguel

    2017-04-01

    To estimate the heritability, parental transmission and environmental contributions to the phenotypic variation in type 2 diabetes mellitus and metabolic syndrome-related traits in families of Mexican children and adolescents. We performed a cross-sectional study of 184 tri-generational pedigrees with a total of 1160 individuals (99 families with a type 2 diabetes mellitus proband before age 19). The family history of type 2 diabetes mellitus in three generations was obtained by interview. Demographic, anthropometric, biochemical and lifestyle information was corroborated in parents and offspring. We obtained correlations for metabolic traits between relative pairs, and variance component methods were used to determine the heritability and environmental components. The heritability of early-onset of type 2 diabetes mellitus was 0.50 (p1.0e-7). The heritability was greater than 0.5 for hypertension, hypoalphalipoproteinemia, hypercholesterolemia, body mass index, waist circumference, blood pressure, 2-h insulin, and cholesterol (p1). In contrast, we observed a high environmental correlation (>0.50) for blood pressure, HbA1c and HDL-cholesterol after multivariate adjustment (ptype 2 diabetes mellitus and insulin resistance, were significantly correlated only through the mother and others, such as hypertriglyceridemia, were significantly correlated only through the father. This study demonstrates that type 2 diabetes mellitus and metabolic syndrome-related traits are highly heritable among Mexican children and adolescents. Furthermore, several cardiometabolic factors have strong heritability and/or high environmental contributions that highlight the complex architecture of these alterations. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

    NARCIS (Netherlands)

    Verzijl, H.T.F.M.; Zwaag, A. van der; Cruysberg, J.R.M.; Padberg, G.W.A.M.

    2003-01-01

    OBJECTIVE: To investigate the variable clinical picture of Mobius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS: A standardized questionnaire was submitted to 37 Dutch patients with Mobius syndrome. All underwent standardized neurologic examination

  18. Neurologic manifestations of achondroplasia.

    Science.gov (United States)

    Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J

    2014-01-01

    Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists, neurologists, and orthopedists, since there are numerous bony and neurological complications. The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression, which can have devastating and even lethal sequelae during early childhood. In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent. The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects, connective tissue structures, or both. Similar neurological complications are now appreciated in infants, young children, and teenagers with achondroplasia. Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity, which can aggravate the complications associated with bony stenosis. Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan. Neurological complications associated with achondroplasia are reviewed, including recommendations for the evaluation and management of these clinical problems. © 2014 Elsevier B.V. All rights reserved.

  19. Chronicle of pediatric radiology

    International Nuclear Information System (INIS)

    Benz-Bohm, Gabriele; Richter, Ernst

    2012-01-01

    The chronicle of pediatric radiology covers the following issues: Development of pediatric radiology in Germany (BRD, DDR, pediatric radiological accommodations); development of pediatric radiology in the Netherlands (chronology and pediatric radiological accommodations); development of pediatric radiology in Austria (chronology and pediatric radiological accommodations); development of pediatric radiology in Switzerland (chronology and pediatric radiological accommodations).

  20. Pattern of intravenous immunoglobulins (IVIG) use in a pediatric ...

    African Journals Online (AJOL)

    Pattern of intravenous immunoglobulins (IVIG) use in a pediatric intensive care facility in a resource limited setting. ... Journal Home > Vol 13, No 2 (2013) > ... Results: The clinical diagnoses included neurology (35%), neonatology (16%), ...

  1. Using a limited number of dermatomes as a predictor of the 56-dermatome test of the international standards for neurological classification of spinal cord injury in the pediatric population.

    Science.gov (United States)

    Krisa, Laura; Mulcahey, M J; Gaughan, John P; Smith, Brian; Vogel, Lawrence C

    2013-01-01

    For young children with spinal cord injury (SCI), the sensory exam of the International Standards for the Neurological Classification of Spinal Cord Injury (ISNCSCI) is long and arduous, often making it impossible to complete. In this study, we determine whether an abbreviated sensory exam provides comparable information to the full 56-dermatome exam. A total of 726 56-dermatome sensory exams were completed with 190 children and youth with SCI ranging in age from 3 to 21 years. The cohort was randomly split into test and validation groups. For the test group, a principal component analysis (PCA) was carried out separately for pin prick (PP) and light touch (LT) scores. From the PCA, a hierarchical cluster analysis was performed to identify the most influential set of 4, 8, 12, and 16 dermatomes. From the sensory exam data obtained from the validation group, a linear regression was performed to compare the limited-dermatome composite scores to the total 56-dermatome scores. For both LT and PP, the 16-dermatome test resulted in the best fit (0.86 and 0.87, respectively) with the 56-dermatome test and was comprised of dermatomes from both the left (7 dermatomes) and right (9 dermatomes) sides and at least 1 dermatome from each vertebral region bilaterally (cervical, thoracic, lumbar, sacral). A 16-dermatome sensory exam provided a good correlation to the 56-dermatome exam. The shortened exam may be useful for evaluating children with SCI who cannot tolerate the full examination.

  2. Latah: an Indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    2013-01-01

    The nature of culture-specific startles syndromes such as "Latah" in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  3. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  4. Pediatric Headache: An Overview.

    Science.gov (United States)

    Langdon, Raquel; DiSabella, Marc T

    2017-03-01

    Headache represents the most common neurologic disorder in the general population including children and is increasingly being recognized as a major source of morbidity in youth related to missed school days and activities. In this article, we take a holistic approach to the child presenting with headache with a focus on the detailed headache history, physical and neurologic examinations, and diagnostic evaluation of these patients. Clinical presentations and classification schema of multiple primary and secondary headache types in children are discussed using the International Headache Criteria (IHCD-3) as a guide, and a summary provided of the various treatment modalities employed for pediatric headache including lifestyle modifications, behavioral techniques, and abortive and preventive medications. Copyright © 2017 Mosby, Inc. All rights reserved.

  5. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey.

    Science.gov (United States)

    Nickels, Katherine; Thibert, Ronald; Rau, Stephanie; Demarest, Scott; Wirrell, Elaine; Kossoff, Eric H; Joshi, Charuta; Nangia, Srishti; Shellhaas, Renee

    2018-04-25

    To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS. The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS. Inclusion/exclusion criteria were then classified as critical, strong, or modest. Investigations were classified as essential, recommended, or possible. Therapies were classified as first line, beneficial, indeterminate benefit, or contraindicated. Survey results from the 76 participants determined the following: EMAS inclusion criteria: history suggestive of MAS (critical), recorded or home video suggestive of MAS, generalized discharges on inter-ictal EEG, normal neuroimaging, normal development prior to seizure onset (strong). EMAS exclusionary criteria: epileptic spasms, abnormal neuroimaging, focal abnormal exam, seizure onset six years (strong). EEG and MRI (essential), amino acids, organic acids, fatty acid/acylcarnitine profile, microarray, genetic panel, lactate/pyruvate, CSF and serum glucose/lactate (strong). Valproic acid (first line), topiramate, zonisamide, levetiracetam, benzodiazepines, and dietary therapies (beneficial). To date, no similar surveys have been published, even though early syndrome identification and initiation of effective treatment have been associated with improved outcome in EMAS. Medications that exacerbate seizures in EMAS have also been identified. This survey identified critical and preferred diagnostic electro clinical features, investigations, and treatments for EMAS. It will guide future research and is a crucial

  6. A synopsis on current practice in the diagnosis and management of patients with Turner syndrome in Turkey: A survey of 18 pediatric endocrinology centers*

    Science.gov (United States)

    Uçar, Ahmet; Abacı, Ayhan; Pirgon, Özgür; Dündar, Bumin; Tütüncüler, Filiz; Çatlı, Gönül; Anık, Ahmet; Kılınç Uğurlu, Aylin; Büyükgebiz, Atilla

    2018-04-27

    A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus. Thirteen centers (72.2%) performed GH stimulation tests. Only four centers (22.2%) used oxandrolone in patients with TS with very short stature. The majority of the centers relied on bone age and breast development to assess estrogen adequacy, though together with variable combinations of oestrogen surrogates. Two centers (11.1%) reported performing serum estradiol measurements. Eight centers (44.4% ) routinely conducted cardiac/thoracic aorta magnetic resonance imaging. Screening for hearing, dental, and ophthalmologic problems were performed by thirteen (72.2%), six (33.3%), and ten (55.6 %) centers, respectively. Psychiatric assessments were made by four centers (22.2%) at diagnosis, with only one center (5.6% ) requiring annual reassessments. Although we found some conformity between the current consensus and practice of the participating centers in Turkey regarding TS, further improvements are mandatory in the multi-disciplinary approach to address co-morbidities, which if unrecognized, may be associated with reduced quality of life, and even mortality.

  7. Neurologic signs and symptoms frequently manifest in acute HIV infection

    Science.gov (United States)

    Fletcher, James L.K.; Valcour, Victor; Kroon, Eugène; Ananworanich, Jintanat; Intasan, Jintana; Lerdlum, Sukalaya; Narvid, Jared; Pothisri, Mantana; Allen, Isabel; Krebs, Shelly J.; Slike, Bonnie; Prueksakaew, Peeriya; Jagodzinski, Linda L.; Puttamaswin, Suwanna; Phanuphak, Nittaya; Spudich, Serena

    2016-01-01

    Objective: To determine the incidence, timing, and severity of neurologic findings in acute HIV infection (pre–antibody seroconversion), as well as persistence with combination antiretroviral therapy (cART). Methods: Participants identified with acute HIV were enrolled, underwent structured neurologic evaluations, immediately initiated cART, and were followed with neurologic evaluations at 4 and 12 weeks. Concurrent brain MRIs and both viral and inflammatory markers in plasma and CSF were obtained. Results: Median estimated HIV infection duration was 19 days (range 3–56) at study entry for the 139 participants evaluated. Seventy-three participants (53%) experienced one or more neurologic findings in the 12 weeks after diagnosis, with one developing a fulminant neurologic manifestation (Guillain-Barré syndrome). A total of 245 neurologic findings were noted, reflecting cognitive symptoms (33%), motor findings (34%), and neuropathy (11%). Nearly half of the neurologic findings (n = 121, 49%) occurred at diagnosis, prior to cART initiation, and most of these (n = 110, 90%) remitted concurrent with 1 month on treatment. Only 9% of neurologic findings (n = 22) persisted at 24 weeks on cART. Nearly all neurologic findings (n = 236, 96%) were categorized as mild in severity. No structural neuroimaging abnormalities were observed. Participants with neurologic findings had a higher mean plasma log10 HIV RNA at diagnosis compared to those without neurologic findings (5.9 vs 5.4; p = 0.006). Conclusions: Acute HIV infection is commonly associated with mild neurologic findings that largely remit while on treatment, and may be mediated by direct viral factors. Severe neurologic manifestations are infrequent in treated acute HIV. PMID:27287217

  8. An integrated mechanism of pediatric pseudotumor cerebri syndrome: evidence of bioenergetic and hormonal regulation of cerebrospinal fluid dynamics.

    Science.gov (United States)

    Sheldon, Claire A; Kwon, Young Joon; Liu, Grant T; McCormack, Shana E

    2015-02-01

    Pseudotumor cerebri syndrome (PTCS) is defined by the presence of elevated intracranial pressure (ICP) in the setting of normal brain parenchyma and cerebrospinal fluid (CSF). Headache, vision changes, and papilledema are common presenting features. Up to 10% of appropriately treated patients may experience permanent visual loss. The mechanism(s) underlying PTCS is unknown. PTCS occurs in association with a variety of conditions, including kidney disease, obesity, and adrenal insufficiency, suggesting endocrine and/or metabolic derangements may occur. Recent studies suggest that fluid and electrolyte balance in renal epithelia is regulated by a complex interaction of metabolic and hormonal factors; these cells share many of the same features as the choroid plexus cells in the central nervous system (CNS) responsible for regulation of CSF dynamics. Thus, we posit that similar factors may influence CSF dynamics in both types of fluid-sensitive tissues. Specifically, we hypothesize that, in patients with PTCS, mitochondrial metabolites (glutamate, succinate) and steroid hormones (cortisol, aldosterone) regulate CSF production and/or absorption. In this integrated mechanism review, we consider the clinical and molecular evidence for each metabolite and hormone in turn. We illustrate how related intracellular signaling cascades may converge in the choroid plexus, drawing on evidence from functionally similar tissues.

  9. Acute and long term effects of grape and pomegranate juice consumption on endothelial dysfunction in pediatric metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Roya Kelishadi

    2011-01-01

    Full Text Available Background: This study aimed to determine the short- and long-term effects of consumption of grape and pomegranate juices on markers of endothelial function and inflammation in adolescents with metabolic syndrome (MetS. Methods: In a non-pharmacologic randomized controlled trial, 30 individuals were randomly assigned to two groups of drinking natural grape or pomegranate juice for 1 month. Measurements of inflammatory factors [Hs-CRP, sE-selectin, sICAM-1, sVCAM, and interleukin 6 (IL-6] and flow-mediated dilation (FMD were made at baseline, 4 hours after first juice consumption and after one month of juice consumption. Results: The percent changes of FMD were significant in both groups in the short- and long-term. Hs-CRP had a nonsignificant decrease. sE selectin had a significant decrease after 4 hours in total and in the pomegranate juice group, followed by a significant decrease after 1 month in both groups. After 4 hours, sICAM-1 significantly decreased in the pomegranate juice group, and after 1 month it decreased in total and pomegranate juice group. Interleulkin-6 (IL-6 had a significant constant decrease at 4-hour and 1-month measurements after drinking pomegranate juice, and in both groups after 1 month. Significant negative correlations of changes in sICAM-1 and sE-selectin with changes in FMD were found in both periods of follow-up; and at 1 month for IL-6. Conclusions: Decline in inflammation was associated with improvement in FMD without changes in conventional risk factors. Daily consumption of natural antioxidants may improve endothelial function in adolescents with MetS.

  10. American Academy of Neurology

    Science.gov (United States)

    ... on draft guideline manuscript on autism and sleep problems. Capitol Hill Report: Opioid Epidemic Declared Public Health Emergency Read the latest news on how the AAN is fighting for neurology in Washington DC. New Study: Virtual Reality Training May Be as Effective as Regular Therapy ...

  11. Wikipedia and neurological disorders

    NARCIS (Netherlands)

    Brigo, Francesco; Igwe, Stanley C.; Nardone, Raffaele; Lochner, Piergiorgio; Tezzon, Frediano; Otte, WM

    2015-01-01

    Our aim was to evaluate Wikipedia page visits in relation to the most common neurological disorders by determining which factors are related to peaks in Wikipedia searches for these conditions. Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a

  12. Neurological aspects of eclampsia

    Directory of Open Access Journals (Sweden)

    Jovanović Dejana

    2003-01-01

    Full Text Available The difficult types of preeclampsia and eclampsia are presented with the neurological symptoms. The break of cerebral autoregulation mechanism plays the most important role in pathogenesis of cerebral vasospasm. Nevertheless eclampsia isn’t just an ordinary hypertensive encephalopathy because other pathogenic mechanisms are involved in its appearance. The main neuropathologic changes are multifocal vasogenic edema, perivascular multiple microinfarctions and petechial hemorrhages. Neurological clinical manifestations are convulsions, headache, visual disturbances and rarely other discrete focal neurological symptoms. Eclampsia is a high-risk factor for onset of hemorrhagic or ischemic stroke. This is a reason why neurological diagnostic tests are sometimes needed. The method of choice for evaluation of complicated eclampsia is computerized brain topography that shows multiple areas of hypodensity in occipitoparietal regions. These changes are focal vasogenic cerebral edema. For differential diagnosis of eclampsia and stroke other diagnostic methods can be used - fundoscopic exam, magnetic resonance brain imaging, cerebral angiography and cerebrospinal fluid exam. The therapy of eclampsia considers using of magnesium sulfate, antihypertensive, anticonvulsive and antiedematous drugs.

  13. Astroglia in neurological diseases

    Czech Academy of Sciences Publication Activity Database

    Verkhratsky, Alexei; Rodríguez Arellano, Jose Julio; Parpura, V.

    2013-01-01

    Roč. 8, č. 2 (2013), s. 149-158 ISSN 1479-6708 R&D Projects: GA ČR(CZ) GAP304/11/0184; GA ČR GA309/09/1696 Institutional support: RVO:68378041 Keywords : amyotrophic lateral sclerosis * Alzheimer's disease * Alexander disease Subject RIV: FH - Neurology

  14. Neurology of cardiopulmonary resuscitation.

    Science.gov (United States)

    Mulder, M; Geocadin, R G

    2017-01-01

    This chapter aims to provide an up-to-date review of the science and clinical practice pertaining to neurologic injury after successful cardiopulmonary resuscitation. The past two decades have seen a major shift in the science and practice of cardiopulmonary resuscitation, with a major emphasis on postresuscitation neurologic care. This chapter provides a nuanced and thoughtful historic and bench-to-bedside overview of the neurologic aspects of cardiopulmonary resuscitation. A particular emphasis is made on the anatomy and pathophysiology of hypoxic-ischemic encephalopathy, up-to-date management of survivors of cardiopulmonary resuscitation, and a careful discussion on neurologic outcome prediction. Guidance to practice evidence-based clinical care when able and thoughtful, pragmatic suggestions for care where evidence is lacking are also provided. This chapter serves as both a useful clinical guide and an updated, thorough, and state-of-the-art reference on the topic for advanced students and experienced practitioners in the field. © 2017 Elsevier B.V. All rights reserved.

  15. Neurologic abnormalities in murderers.

    Science.gov (United States)

    Blake, P Y; Pincus, J H; Buckner, C

    1995-09-01

    Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%). There were symptoms or some other evidence of temporal lobe abnormality in nine (29%). We made a specific neurologic diagnosis in 20 individuals (64.5%), including borderline or full mental retardation (9) and cerebral palsy (2), among others. Neuropsychological testing revealed abnormalities in all subjects tested. There were EEG abnormalities in eight of the 20 subjects tested, consisting mainly of bilateral sharp waves with slowing. There were MRI or CT abnormalities in nine of the 19 subjects tested, consisting primarily of atrophy and white matter changes. Psychiatric diagnoses included paranoid schizophrenia (8), dissociative disorder (4), and depression (9). Virtually all subjects had paranoid ideas and misunderstood social situations. There was a documented history of profound, protracted physical abuse in 26 (83.8%) and of sexual abuse in 10 (32.3%). It is likely that prolonged, severe physical abuse, paranoia, and neurologic brain dysfunction interact to form the matrix of violent behavior.

  16. Síndrome de Ehlers Danlos: ¿subregistro clínico en ortopedia pediátrica? Ehlers Danlos syndrome: a clinical subregister in pediatric orthopedics?

    Directory of Open Access Journals (Sweden)

    George N. García Rodríguez

    2008-06-01

    descriptive study was conducted among all the patients with Ehlers Danlos syndrome that were seen at the Orthopedics and Traumatology department of "José Martí" Teaching Pediatric Hospital (Sancti Spiritus, Cuba from July 2001 to July 2006. A minimum follow-up time of 6 months was considered for the validation of the results. RESULTS. 41 patients affected with 72 diseases of orthopedic origin were studied. The frequency was approximately 1.7 diseases per patient, with a non significant predominance of females (n = 24. One of the most important perinatal antecedents was the presence of diverse hip dysplasia degrees. The presence of other non-orthopedic affections was not remarkable. The main orthopedic findings were the flexible flat foot (37, the genus recurvatum (11 and kyphoscoliosis (9. Aesthetic surgery and the corrective orthopedic surgery were the most used. CONCLUSIONS. The categorization of this disease and its timely treatment is an efficient method of control that would help to prevent the articular degeneration that generally precedes osteoarthritis.

  17. Insulin resistance and the metabolic syndrome are related to the severity of steatosis in the pediatric population with obesity

    Directory of Open Access Journals (Sweden)

    Esther Ubiña-Aznar

    Full Text Available Background: To determine the factors associated with an increased risk for severe steatosis (SS and establish the Homeostatic Model Assessment-Insulin Resistance (HOMA-IR as a screening tool. Methods: A cross-sectional study was performed in obese children to assess the relationship between the metabolic syndrome (MetS and glucose metabolism alterations (GMA and the risk for severe steatosis. Results: A total of 94 children (51 males aged from six to 14 years were included. Thirteen children (14.8% had severe steatosis (SS. The anthropometric variables associated with SS included body mass index (BMI (SS 34.1 vs non-SS 29.7, p = 0.005, waist circumference (cm (100 vs 92.5, p = 0.015 and hip circumference (cm (108 vs 100, p = 0.018. The blood parameters included alanine aminotransferase (ALT (UI/dl (27 vs 21, p = 0.002, gamma-glutamil transpeptidase (GGT (UI/dl (16 vs 15, p = 0.017, fasting glycemia (mg/dl (96 vs 88, p = 0.006, fasting insulin (UI/dl (25 vs 15.3, p < 0.001 and HOMA-IR score (7.1 vs 3.7, p < 0.001. Eighteen children with MetS were found to be at an increased risk for severe steatosis (odds ratio [OR] 11.36, p < 0.001. After receiver operating characteristic (ROC curve analysis, the best area under the curve (AUC was obtained for HOMA-R of 0.862. The HOMA-R 4.9 cut-off value had a 100% sensitivity (CI 95%: 96.2-100 and 67.9% specificity (CI 95%: 57.1-78.7 for severe steatosis. Conclusions: The presence of MetS and glucose metabolism alterations are risk factors for severe steatosis. The 4.9 cut-off value for HOMA-IR may be a risk factor for severe steatosis in obese children.

  18. Neurological Disease in Lupus: Toward a Personalized Medicine Approach.

    Science.gov (United States)

    McGlasson, Sarah; Wiseman, Stewart; Wardlaw, Joanna; Dhaun, Neeraj; Hunt, David P J

    2018-01-01

    The brain and nervous system are important targets for immune-mediated damage in systemic lupus erythematosus (SLE), resulting in a complex spectrum of neurological syndromes. Defining nervous system disease in lupus poses significant challenges. Among the difficulties to be addressed are a diversity of clinical manifestations and a lack of understanding of their mechanistic basis. However, despite these challenges, progress has been made in the identification of pathways which contribute to neurological disease in SLE. Understanding the molecular pathogenesis of neurological disease in lupus will inform both classification and approaches to clinical trials.

  19. Neurological Disease in Lupus: Toward a Personalized Medicine Approach

    Science.gov (United States)

    McGlasson, Sarah; Wiseman, Stewart; Wardlaw, Joanna; Dhaun, Neeraj; Hunt, David P. J.

    2018-01-01

    The brain and nervous system are important targets for immune-mediated damage in systemic lupus erythematosus (SLE), resulting in a complex spectrum of neurological syndromes. Defining nervous system disease in lupus poses significant challenges. Among the difficulties to be addressed are a diversity of clinical manifestations and a lack of understanding of their mechanistic basis. However, despite these challenges, progress has been made in the identification of pathways which contribute to neurological disease in SLE. Understanding the molecular pathogenesis of neurological disease in lupus will inform both classification and approaches to clinical trials. PMID:29928273

  20. Electrical Burn Causing a Unique Pattern of Neurological Injury

    Directory of Open Access Journals (Sweden)

    Nathan R. Schaefer, BExSc, MBBS (Hons

    2015-04-01

    Full Text Available Summary: Neurological involvement is not uncommon in patients who sustain electrical injury. The exact mechanism of nervous system damage following electrical trauma is not fully understood. The gamut of possible neurologic manifestations following electrical injury is diverse. This case report describes a young man with a unique pattern of neurological injury following an electrical burn. The combination of brachial plexopathy, partial Horner’s syndrome, and phrenic nerve palsy secondary to electrical injury has not been previously described in the literature.

  1. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  2. Pediatric Dentistese

    Directory of Open Access Journals (Sweden)

    Sharath Asokan

    2017-01-01

    Full Text Available Successful practice of pediatric dentistry depends on the establishment of a good relationship between the dentist and the child. Such a relationship is possible only through effective communication. Pediatric dentistry includes both an art and a science component. The focus has been mostly on the technical aspects of our science, and the soft skills we need to develop are often forgotten or neglected. This paper throws light on the communication skills we need to imbibe to be a successful pediatric dentist. A new terminology “Pediatric Dentistese” has been coined similar to motherese, parentese, or baby talk. Since baby talk cannot be applied to all age groups of children, pediatric dentistese has been defined as “the proactive development-based individualized communication between the pediatric dentist and the child which helps to build trust, allay fear, and treat the child effectively and efficiently.”

  3. Home-Based Hypnotherapy Self-exercises vs Individual Hypnotherapy With a Therapist for Treatment of Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, or Functional Abdominal Pain Syndrome: A Randomized Clinical Trial.

    Science.gov (United States)

    Rutten, Juliette M T M; Vlieger, Arine M; Frankenhuis, Carla; George, Elvira K; Groeneweg, Michael; Norbruis, Obbe F; Tjon A Ten, Walther; van Wering, Herbert M; Dijkgraaf, Marcel G W; Merkus, Maruschka P; Benninga, Marc A

    2017-05-01

    Individual gut-directed hypnotherapy (HT) is effective in pediatric irritable bowel syndrome (IBS) and functional abdominal pain or functional abdominal pain syndrome (FAP[S]). It is, however, unavailable to many children. To compare the effectiveness of HT by means of home-based self-exercises using a CD with that of individual HT (iHT) performed by qualified therapists. This noninferiority randomized clinical trial with a follow-up of 1 year after the end of treatment was conducted from July 15, 2011, through June 24, 2013, at 9 secondary and tertiary care centers throughout the Netherlands. A total of 303 children were eligible to participate. Of those, 260 children (aged 8-18 years) with IBS or FAP(S) were included in this study. Children were randomized (1:1 ratio) to home-based HT with a CD (CD group) or iHT performed by qualified therapists (iHT group). No children withdrew from the study because of adverse effects. The CD group was instructed to perform exercises 5 times per week or more for 3 months. The iHT group consisted of 6 sessions during 3 months. Primary outcomes were treatment success directly after treatment and after 1-year follow-up. Treatment success was defined as a 50% or greater reduction in pain frequency and intensity scores. The noninferiority limit was set at 50% treatment success in the CD group, with a maximum of 25% difference in treatment success with the iHT group after 1-year follow-up. Modified intention-to-treat analyses were performed. A total of 132 children were assigned to the CD group and 128 to the iHT group; 250 children were analyzed (126 in the CD group and 124 in the iHT group) (mean [SD] age, 13.4 [2.9] years in the CD group and 13.3 [2.8] years in the iHT group; 94 female [74.6%] in the CD group and 85 [68.5%] in the iHT group). Directly after treatment, 46 children (36.8%) in the CD group and 62 (50.1%) in the iHT group were successfully treated. After 1-year follow-up, the 62.1% treatment success in the CD group

  4. [Drooling therapy in children with neurological disorders].

    Science.gov (United States)

    Táboas-Pereira, M Andrea; Paredes-Mercado, Cecilia; Alonso-Curcó, Xènia; Badosa-Pagès, Joaquim; Muchart, Jordi; Póo, Pilar

    2015-07-16

    Drooling is the inability to retain saliva in the mouth and its progression to the digestive tract, being a common problem in pediatric patients with neurological disorders. Three different treatment options are available. To assess the effectiveness and safety of trihexyphenidyl, scopolamine and botulinum toxin infiltration in the treatment of drooling in children with neurological disorders. This is an open and prospective type study. We include patients treated in the Neurology Service that present excessive drooling, affecting their quality of life, between 2009 and 2013. We enrolled 46 patients in the study. The treatment with oral trihexyphenidyl was indicated in 46, obtaining good result in 15 (32.6%), three with temporary effect and the rest with lasting effect. Three patients presented side effects (6.5%). Four out of 11 (36.36%) patients treated with scopolamine patch had beneficial effects. One was withdrawn due to lack of efficacy and six due to side effects. Twenty-five patients were infiltrated with botulinum toxin, with a significant decrease of drooling in 16 patients (64%) after the first injection. We observed no significant changes in nine patients. Only one out of 25 showed side effects (mild dysphagia). Currently there is not a fully effective therapeutic option for drooling. We recommend starting treatment with trihexyphenidyl. A second option could be the scopolamine patch and botulinum toxin as a third option. Botulinum toxin infiltration in salivary glands is shown as an effective and safe alternative in our study.

  5. Esophageal adenocarcinoma and Barrett esophagus in a neurologically impaired teenager.

    Science.gov (United States)

    Hwang, Jae-Yeon; Lee, Yeoun Joo; Chun, Peter; Shin, Dong Hoon; Park, Jae Hong

    2016-11-01

    Esophageal adenocarcinoma (EAC) accompanied by Barrett esophagus (BE) is rare in patients younger than 20 years old. EAC in the upper esophagus is also rare. We report a rare case of EAC with BE that developed in the upper esophagus after chronic, untreated gastroesophageal reflux disease in a neurologically impaired teenager. A 19-year-old neurologically impaired man underwent endoscopy for evaluation of dysphagia and vomiting, and was diagnosed with EAC with BE. He underwent transthoracic esophagectomy, extensive lymph node dissection, and cervical esophagogastric anastomosis, but the prognosis was poor. Pathology indicated poorly differentiated adenocarcinoma with BE. © 2016 Japan Pediatric Society.

  6. Neurological disorders in children with autism

    Directory of Open Access Journals (Sweden)

    N. N. Zavadenko

    2015-01-01

    Full Text Available During a clinical examination of children with autistic spectrum disorders, attention should be drawn to both their major clinical manifestations and neurological comorbidities. The paper considers the mechanisms of autism-induced neurological disorders, the spectrum of which may include manifestations, such as retarded and disharmonic early psychomotor development; the specific features of sensory perception/processing; rigidity and monotony of motor and psychic reactions; motor disinhibition and hyperexcitability; motor stereotypies; uncoordinated movements; developmental coordination disorders (dyspraxia; impaired expressive motor skills; speech and articulation disorders; tics; epilepsy. It describes the specific features of neurological symptoms in Asperger’s syndrome, particularly in semantic-pragmatic language disorders, higher incidence rates of hyperlexia, motor and vocal tics. The incidence rate of epilepsy in autistic spectrum disorders is emphasized to be greater than the average population one. At the same time, the risk of epilepsy is higher in mentally retarded patients with autism. Identification of neurological disorders is of great importance in determining the tactics of complex care for patients with autistic spectrum disorders. 

  7. Chapter 17: cognitive assessment in neurology.

    Science.gov (United States)

    Henderson, Victor W

    2010-01-01

    Modern interests in cognitive assessment began with Franz Gall's early 19th century theory of mental organology and Paul Broca's reports in the 1860s on patients with focal brain injury and aphemia. These workers spurred interest in assessing delimited mental abilities in relation to discrete cerebral areas. With roots in experimental and educational psychology, the intelligence testing movement added assessment tools that could be applied to neurological patients. Early- to mid-20th-century landmarks were Alfred Binet and Theodore Simon's intelligence scale, Howard Knox's nonverbal performance tests, and the intelligence quotient conceived by Lewis Terman and refined by David Wechsler. Also developed during this era were Henry Head's Serial Tests for aphasic patients and Kurt Goldstein's tests for brain-injured patients with impairments in "abstract attitude" and concept formation. Other investigators have contributed procedures for the evaluation of language functions, memory, visuospatial and visuoconstructive skills, praxis, and executive functions. A further milestone was the development of short standardized cognitive instruments for dementia assessment. Within a neurological arena, the historical emphasis has been on a flexible, process-driven approach to the service of neurological diagnosis and syndrome identification. Advances in clinical psychology, neurology, and the cognate clinical neurosciences continue to enrich assessment options.

  8. Mind-body interventions: applications in neurology.

    Science.gov (United States)

    Wahbeh, Helané; Elsas, Siegward-M; Oken, Barry S

    2008-06-10

    Half of the adults in the United States use complementary and alternative medicine with mind-body therapy being the most commonly used form. Neurology patients often turn to their physicians for insight into the effectiveness of the therapies and resources to integrate them into their care. The objective of this article is to give a clinical overview of mind-body interventions and their applications in neurology. Medline and PsychInfo were searched on mind-body therapies and neurologic disease search terms for clinical trials and reviews and published evidence was graded. Meditation, relaxation, and breathing techniques, yoga, tai chi, and qigong, hypnosis, and biofeedback are described. Mind-body therapy application to general pain, back and neck pain, carpal tunnel syndrome, headaches, fibromyalgia, multiple sclerosis, epilepsy, muscular dysfunction, stroke, aging, Parkinson disease, stroke, and attention deficit-hyperactivity disorder are reviewed. There are several conditions where the evidence for mind-body therapies is quite strong such as migraine headache. Mind-body therapies for other neurology applications have limited evidence due mostly to small clinical trials and inadequate control groups.

  9. [Anesthesia for patients with neurological diseases].

    Science.gov (United States)

    Kimura, Masafumi; Saito, Shigeru

    2010-09-01

    Several surgical treatments can be employed for the patients with neurological disorders, such as multiple sclerosis, Guillain-Barré syndrome, Parkinson's disease, amyotrophic lateral sclerosis, Alzheimer disease and spinal cord injury. It is possible that anesthesia related complications are induced in these neurologically complicated patients in the perioperative period. Respiratory dysfunction and autonomic nervous system dysfunction are most common in this population. Respiratory muscle weakness and bulbar palsy may cause aspiration pneumonia. Sometimes, postoperative ventilatory support is mandatory in these patients. Autonomic nervous system dysfunction may cause hypotension secondary to postural changes, blood loss, or positive airway pressure. Some therapeutic agents prescribed for neurological symptoms have drug interaction with anesthetic agents. Patients with motor neuron disease should be considered to be vulnerable to hyperkalemia in response to a depolarizing muscle relaxant. Although perioperative treatment guideline for most neurologic disorders has not been reported to lessen perioperative morbidity, knowledge of the clinical features and the interaction of common anesthetics with the drug therapy is important in planning intraoperative and postoperative management.

  10. Neurological legal disability

    Directory of Open Access Journals (Sweden)

    Radhakrishna H

    2006-01-01

    Full Text Available Neurological disorders with a prolonged course, either remediable or otherwise are being seen increasingly in clinical practice and many such patients are young and are part of some organization or other wherein their services are needed if they were healthy and fit. The neurologists who are on the panel of these organizations are asked to certify whether these subjects are fit to work or how long they should be given leave. These certificates may be produced in the court of law and may be subjected to verification by another neurologist or a medical board. At present there are no standard guidelines in our country to effect such certification unlike in orthopedic specialty or in ophthalmology. The following is a beginning, based on which the neurologist can certify the neurological disability of such subjects and convey the same meaning to all neurologists across the country.

  11. Vaccination and neurological disorders

    Directory of Open Access Journals (Sweden)

    Anastasia Gkampeta

    2015-12-01

    Full Text Available Active immunization of children has been proven very effective in elimination of life threatening complications of many infectious diseases in developed countries. However, as vaccination-preventable infectious diseases and their complications have become rare, the interest focuses on immunization-related adverse reactions. Unfortunately, fear of vaccination-related adverse effects can led to decreased vaccination coverage and subsequent epidemics of infectious diseases. This review includes reports about possible side effects following vaccinations in children with neurological disorders and also published recommendations about vaccinating children with neurological disorders. From all international published data anyone can conclude that vaccines are safer than ever before, but the challenge remains to convey this message to society.

  12. The Neurology of Proverbs

    Directory of Open Access Journals (Sweden)

    Diana Van Lancker

    1990-01-01

    Full Text Available Although proverb tests are commonly used in the mental status examination surprisingly little is known about either normal comprehension or the interpretation of proverbial expressions. Current proverbs tests have conceptual and linguistic shortcomings, and few studies have been done to investigate the specific effects of neurological and psychiatric disorders on the interpretation of proverbs. Although frontal lobes have traditionally been impugned in patients who are “concrete”, recent studies targeting deficient comprehension of non literal language (e.g. proverbs, idioms, speech formulas, and indirect requests point to an important role of the right hemisphere (RH. Research describing responses of psychiatrically and neurologically classified groups to tests of proverb and idiom usage is needed to clarify details of aberrant processing of nonliteral meanings. Meanwhile, the proverb test, drawing on diverse cognitive skills, is a nonspecific but sensitive probe of mental status.

  13. Prevalence and Distribution of Neurological Disease in a Neurology ...

    African Journals Online (AJOL)

    Uche

    Annals of Medical and Health Sciences Research – January 2011 – Vol. 1 N0.1. >>>63<<<. Prevalence and Distribution of Neurological Disease in a. Neurology Clinic in Enugu, Nigeria. Onwuekwe IO* and Ezeala-Adikaibe B*. *Neurology Unit, Department of Medicine,. University of Nigeria Teaching Hospital, Enugu, ...

  14. Palliative care and neurology

    Science.gov (United States)

    Boersma, Isabel; Miyasaki, Janis; Kutner, Jean

    2014-01-01

    Palliative care is an approach to the care of patients and families facing progressive and chronic illnesses that focuses on the relief of suffering due to physical symptoms, psychosocial issues, and spiritual distress. As neurologists care for patients with chronic, progressive, life-limiting, and disabling conditions, it is important that they understand and learn to apply the principles of palliative medicine. In this article, we aim to provide a practical starting point in palliative medicine for neurologists by answering the following questions: (1) What is palliative care and what is hospice care? (2) What are the palliative care needs of neurology patients? (3) Do neurology patients have unique palliative care needs? and (4) How can palliative care be integrated into neurology practice? We cover several fundamental palliative care skills relevant to neurologists, including communication of bad news, symptom assessment and management, advance care planning, caregiver assessment, and appropriate referral to hospice and other palliative care services. We conclude by suggesting areas for future educational efforts and research. PMID:24991027

  15. Consideraciones cardiovasculares del síndrome de Marfán en edades pediátricas Cardiovascular considerations about Marfan's syndrome at pediatric ages

    Directory of Open Access Journals (Sweden)

    Giselle Serrano Ricardo

    2012-06-01

    Full Text Available El síndrome de Marfán es una enfermedad hereditaria del tejido conectivo, que se describe en niños y en adultos, causada por una mutación en el gen que codifica la glicoproteína fibrilina tipo 1. Afecta múltiples órganos y sistemas, fundamentalmente cardiovascular, esquelético, oftalmológico, piel y tegumentos. Se presenta una revisión de los aspectos más actuales del diagnóstico, y la atención multidisciplinaria para lograr una reducción de la morbilidad y mortalidad en los pacientes pediátricos. Se concluye que el uso precoz de betabloqueadores e inhibidores del receptor AT-1 de la angiotensina II (losartán, constituyen actualmente los pilares fundamentales de la terapéutica farmacológica, pues disminuyen la frecuencia de complicaciones cardiovasculares, las cuales determinan el pronóstico de la enfermedad. La cirugía programada de la raíz aórtica, especialmente con preservación valvular, permite mejorar la expectativa de vida al evitar la alta mortalidad de los eventos agudos. Alternativas prometedoras son los procederes híbridos y el intervencionismo endovascular.Marfan syndrome is a hereditary disease of the connective tissue caused by mutation of type 1 fibrillin glycoprotein-coding gene in children and adults. This disease affects organs and systems, mainly cardiovascular, skeletal, ophthalmologic systems, skin and teguments. The review of the most current aspects of diagnosis, and the multidisciplinary care to reduce morbidity and mortality of pediatric patients were presented. It was concluded that the early use of betablockers and angiotensin II AT-1 receptor blocker (losarfan are the fundamental pillars of drug therapy, since they reduce the frequency of cardiovascular complications that determine the disease prognosis. The scheduled surgery of the aortic root, particularly valve preservation, allows improving the life expectancies because it prevents high mortality from acute events. Hybrid procedures and

  16. The Optimal Timing of Stage 2 Palliation for Hypoplastic Left Heart Syndrome: An Analysis of the Pediatric Heart Network Single Ventricle Reconstruction Trial Public Data Set.

    Science.gov (United States)

    Meza, James M; Hickey, Edward J; Blackstone, Eugene H; Jaquiss, Robert D B; Anderson, Brett R; Williams, William G; Cai, Sally; Van Arsdell, Glen S; Karamlou, Tara; McCrindle, Brian W

    2017-10-31

    In infants requiring 3-stage single-ventricle palliation for hypoplastic left heart syndrome, attrition after the Norwood procedure remains significant. The effect of the timing of stage 2 palliation (S2P), a physician-modifiable factor, on long-term survival is not well understood. We hypothesized that an optimal interval between the Norwood and S2P that both minimizes pre-S2P attrition and maximizes post-S2P survival exists and is associated with individual patient characteristics. The National Institutes of Health/National Heart, Lung, and Blood Institute Pediatric Heart Network Single Ventricle Reconstruction Trial public data set was used. Transplant-free survival (TFS) was modeled from (1) Norwood to S2P and (2) S2P to 3 years by using parametric hazard analysis. Factors associated with death or heart transplantation were determined for each interval. To account for staged procedures, risk-adjusted, 3-year, post-Norwood TFS (the probability of TFS at 3 years given survival to S2P) was calculated using parametric conditional survival analysis. TFS from the Norwood to S2P was first predicted. TFS after S2P to 3 years was then predicted and adjusted for attrition before S2P by multiplying by the estimate of TFS to S2P. The optimal timing of S2P was determined by generating nomograms of risk-adjusted, 3-year, post-Norwood, TFS versus the interval from the Norwood to S2P. Of 547 included patients, 399 survived to S2P (73%). Of the survivors to S2P, 349 (87%) survived to 3-year follow-up. The median interval from the Norwood to S2P was 5.1 (interquartile range, 4.1-6.0) months. The risk-adjusted, 3-year, TFS was 68±7%. A Norwood-S2P interval of 3 to 6 months was associated with greatest 3-year TFS overall and in patients with few risk factors. In patients with multiple risk factors, TFS was severely compromised, regardless of the timing of S2P and most severely when S2P was performed early. No difference in the optimal timing of S2P existed when stratified by

  17. Multimodal neuromonitoring in pediatric cardiac anesthesia

    Directory of Open Access Journals (Sweden)

    Alexander J. C. Mittnacht

    2014-01-01

    Full Text Available Despite significant improvements in overall outcome, neurological injury remains a feared complication following pediatric congenital heart surgery (CHS. Only if adverse events are detected early enough, can effective actions be initiated preventing potentially serious injury. The multifactorial etiology of neurological injury in CHS patients makes it unlikely that one single monitoring modality will be effective in capturing all possible threats. Improving current and developing new technologies and combining them according to the concept of multimodal monitoring may allow for early detection and possible intervention with the goal to further improve neurological outcome in children undergoing CHS.

  18. [The problem of suicide in neurologic rehabilitation].

    Science.gov (United States)

    Kallert, T W

    1994-05-01

    Associations between somatic as well as, in particular, neurological diseases and suicidal acts are outlined, with studies of different diseases having shown that they represent only one factor in motivating the suicidal act. Biographical predispositions and stressful variables from the current social situation are always added. Depressive and organic brain syndromes that can often be found during neurological rehabilitation are discussed in their significance as risk factors for suicidal behavior, also seeking to identify distinct phases of the rehabilitation process afflicted with high suicide risk. An active and carefully directed approach to exploration as well as grasping the psychopathological symptomatology are fundamental elements in the assessment of suicide risk. In this respect, observations of the patient's behaviour and information obtained from relatives are of special importance in neurological rehabilitation clinics. The "presuicidal syndrome" (Ringel) continues to be of high clinical value in assessing the psychodynamics of the individual patient in his development towards the suicidal act. Reflections of suicidal tendencies in countertransference reactions and the communication pathology of suicidal behaviour are more recent aspects that enrich the assessment of suicide risk. Therapeutic management of suicidal patients can firstly be characterized by the principle of specific diagnosis and treatment of the underlying disease; this means that optimum medical care even has a suicide-preventive function. The other principle considers the establishment of a therapeutical relationship as a must, and some critical points in the personal contact with suicidal patients are dealt with in some detail. Especially in neurological rehabilitation clinics, custodial aspects must not be neglected.(ABSTRACT TRUNCATED AT 250 WORDS)

  19. African Journal of Neurological Sciences

    African Journals Online (AJOL)

    African Journal of Neurological Sciences (AJNS) is owned and controlled by the Pan African Association of Neurological Sciences (PAANS). The AJNS's aim is to publish scientific papers of any aspects of Neurological Sciences. AJNS is published quarterly. Articles submitted exclusively to the AJNS are accepted if neither ...

  20. Valoración neuroanestésica de pacientes con traumatismo craneoencefálico en una unidad de cuidados intensivos pediátricos Neurological-anesthetic assessment of patients with cranioencephalic trauma at a pediatric intensive care unit

    Directory of Open Access Journals (Sweden)

    Raúl de Jesús Nápoles Smith

    2011-09-01

    Full Text Available Se efectuó un estudio descriptivo, transversal y retrospectivo de 45 pacientes menores de 15 años, ingresados en la Unidad de Cuidados Intensivos Pediátricos del Hospital Infantil Sur Docente de Santiago de Cuba con el diagnóstico de traumatismo craneoencefálico y operados a causa de ello en el período de enero de 2005 a junio de 2009. Se halló que ese tipo de lesión predominó en niños de 5-10 años, que murieron en mayor número los menores de 4 y que las puntuaciones más bajas de la escala de Glasgow para el coma se correspondieron con los peores resultados posoperatorios. El adecuado control neuroanestésico contribuyó a la disminución de la morbilidad y mortalidad en los integrantes de la casuística, como también lo hizo la menor demora entre la producción del accidente y el tratamiento quirúrgico.A cross-sectional, descriptive, and retrospective study of 45 patients under 15 years of age, who were hospitalized at the Pediatric Intensive Care Unit from the Teaching Southern Children's Hospital in Santiago de Cuba with cranioencephalic trauma diagnosis and surgically treated due to this condition, was carried out from January, 2005 to June, 2009. Results were as follows: this kind of injury prevailed in children aged 5-10 years, children under 4 years of age died to a greater extent, and lower score of Glasgow Coma Scale was consistent with the worst post-operative results. An adequate neurological anesthetic control contributed to a decreased morbidity and mortality in the case material, and to a low delay between the developed condition and the surgical treatment.

  1. Silent angels the genetic and clinical aspects of Rett syndrome

    Directory of Open Access Journals (Sweden)

    Dziwota Ewelina

    2016-12-01

    Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

  2. Diagnosis and prevention of overtraining syndrome: an opinion on education strategies

    Directory of Open Access Journals (Sweden)

    Kreher JB

    2016-09-01

    Full Text Available Jeffrey B Kreher Department of Orthopaedics, Division of Pediatric Orthopaedics, Massachusetts General Hospital and Massachusetts General Hospital for Children, Boston, MA, USA Abstract: Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures. Keywords: overreaching, unexplained underperformance, burnout, muscle failure syndrome

  3. Neurology and literature 2.

    Science.gov (United States)

    Iniesta, I

    2014-05-01

    Good literary fiction has the potential to move us, extend our sense of life, transform our prospective views and help us in the face of adversity. A neurological disorder is likely to be the most challenging experience a human being may have to confront in a lifetime. As such, literary recreations of illnesses have a doubly powerful effect. Study the synergies between neurology and fictional literature with particular reference to narrative based medicine (NBM). Doctors establish boundaries between the normal and the abnormal. Taking a clinical history is an act of interpretation in which the doctor integrates the science of objective signs and measurable quantities with the art of subjective clinical judgment. The more discrepancy there is between the patient's experience with the illness and the doctor's interpretation of that disease, the less likely the doctor-patient interaction is to succeed. NBM contributes to a better discernment of the meanings, thus considering disease as a biographical event rather than just a natural fact. Drawing from their own experience with disease, writers of fiction provide universal insights through their narratives, whilst neuroscientists, like Cajal, have occasionally devoted their scientific knowledge to literary narratives. Furthermore, neurologists from Alzheimer to Oliver Sacks remind us of the essential value of NBM in the clinic. Integrating NBM (the narrative of patients) and the classic holistic approach to patients with our current paradigm of evidence based medicine represents a challenge as relevant to neurologists as keeping up with technological and scientific advances. Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  4. Virtual Pediatric Hospital

    Science.gov (United States)

    ... 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' ...

  5. Neurological Respiratory Failure

    Directory of Open Access Journals (Sweden)

    Mohan Rudrappa

    2018-01-01

    Full Text Available West Nile virus infection in humans is mostly asymptomatic. Less than 1% of neuro-invasive cases show a fatality rate of around 10%. Acute flaccid paralysis of respiratory muscles leading to respiratory failure is the most common cause of death. Although the peripheral nervous system can be involved, isolated phrenic nerve palsy leading to respiratory failure is rare and described in only two cases in the English literature. We present another case of neurological respiratory failure due to West Nile virus-induced phrenic nerve palsy. Our case reiterates the rare, but lethal, consequences of West Nile virus infection, and the increase of its awareness among physicians.

  6. Education Research: Neurology resident education

    Science.gov (United States)

    Mayans, David; Schneider, Logan; Adams, Nellie; Khawaja, Ayaz M.; Engstrom, John

    2016-01-01

    Objective: To survey US-trained graduating neurology residents who are American Academy of Neurology members, in an effort to trend perceived quality and completeness of graduate neurology education. Methods: An electronic survey was sent to all American Academy of Neurology members graduating from US neurology residency programs in the Spring of 2014. Results: Of 805 eligible respondents, 24% completed the survey. Ninety-three percent of adult neurology residents and 56% of child neurology residents reported plans to pursue fellowship training after residency. Respondents reported a desire for additional training in neurocritical care, neuro-oncology, neuromuscular diseases, botulinum toxin injection, and nerve blocks. There remains a clear deficit in business training of neurology residents, although there was notable improvement in knowledge of coding and office management compared to previous surveys. Discussion: Although there are still areas of perceived weakness in neurology training, graduating neurology residents feel generally well prepared for their chosen careers. However, most still pursue fellowship training for reasons that are little understood. In addition to certain subspecialties and procedures, practice management remains deficient in neurology training and is a point of future insecurity for most residents. Future curriculum changes should consider resident-reported gaps in knowledge, with careful consideration of improving business training. PMID:26976522

  7. History of Neurology in China

    Institute of Scientific and Technical Information of China (English)

    Wang Xinde

    2000-01-01

    @@In 1921, the first independent department of neurology was established in Beijing. Before 1949, all over China only 12 professional doctors lectured neurology in medical colleges. Only 30 medically trained personnel were engaged in the neurological departments. The neurological departments contained roughly 200 beds. The thesis on stroke was written by Zhang Shanlei and published in 1922. Author discussed the cerebral stroke on basis of Chinese traditional medicine and European medicine. The first Textbook of Neurology in China was written by Professor Cheng Yu-lin and was published in 1939. In 1952, the Chinese Society of Neurology and Psychiatry of Chinese Medical Association was established. In 1955, the first issue of the Chinese Journal of Neurology and Psychiatry was published.

  8. Children's sleep disturbance scale in differentiating neurological disorders.

    Science.gov (United States)

    Cohen, Rony; Halevy, Ayelet; Shuper, Avinoam

    2013-12-01

    We use the Sleep Disturbance Scale for Children (SDSC) routinely as a tool for evaluating children's sleep quality in our pediatric neurology clinic. We analyzed at its ability to detect sleep disturbances distinctive to selected neurological disorders. One-hundred and eighty-six children (age range 2-18 years) who were evaluated by the SDSC questionnaire were divided into three groups according to their principal diagnosis: epilepsy, attention deficit hyperactivity disorder, or others. Their responses were analyzed. The average frequency of abnormal total sleep score was 26.9%. The most frequent sleep disorders were excessive somnolence (25.3%), initiating and maintaining sleep (24.7%), and arousal/nightmares (23.1%). There were no significant group differences for total scores or sleep disorder-specific scores; although a sleep-wake transition disorder was more frequent among children with epilepsy (31%). A literature search revealed that the frequency of abnormal total scores in several neurological disorders (e.g., epilepsy, cerebral palsy) ranges between 20% and 30%. The mechanism underlying sleep disturbances in many neurological disorders may be unrelated to that of the primary disease but rather originate from nonspecific or environmental factors (e.g., familial/social customs and habits, temperament, psychological parameters). Although the SDSC is noninformative for studying the effect of a specific neurological disorder on sleep, we still recommend its implementation for screening for sleep disturbances in children with neurological abnormalities. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Neurologic manifestations of human immunodeficiency virus infection in children

    NARCIS (Netherlands)

    Epstein, L. G.; Sharer, L. R.; Oleske, J. M.; Connor, E. M.; Goudsmit, J.; Bagdon, L.; Robert-Guroff, M.; Koenigsberger, M. R.

    1986-01-01

    This report describes the neurologic manifestations of 36 children with human immunodeficiency virus (HIV) infection. In this cohort, in 16 of 21 children with acquired immunodeficiency syndrome (AIDS), three of 12 children with AIDS-related complex, and one of three asymptomatic seropositive

  10. The Clinical Spectrum Of Paediatric Neurological Disorders In ...

    African Journals Online (AJOL)

    The predominant neurologic morbidities included: cerebral palsy (42.4%), epilepsy (27.8%), febrile seizure (6.5%), mental retardation(6.2%), microcephaly (5.6%), behavioral problems (5.6%), poliomyelitis (4.5%), hydrocephalus (4.2%), visual impairment (2.8%), down syndrome (1.7%), and attention deficit hyperactivity ...

  11. Transition to adult care for children with chronic neurological disorders.

    Science.gov (United States)

    Camfield, Peter; Camfield, Carol

    2011-03-01

    Chronic neurological disorders in children have significant effects on adult medical and social function. Transition and then formal transfer of care from pediatric to adult services is a complex process, although there are virtually no objective data to inform physicians about the most effective approach. Some neurological disorders that start in children are a danger to society if poorly treated in adulthood, some disorders that were previously lethal in childhood now permit survival well into adulthood, and others are static in childhood but progressive in adulthood. Some disorders remit or are cured in childhood but continue to have serious comorbidity in adulthood, whereas others are similar and persistent in children and adults. Maturity, provision of information, and cognitive problems are confounders. We discuss several models of transition/transfer but prefer a joint pediatric/adult transition clinic. We make a series of suggestions about how to improve the transition/transfer process with the hope of better medical and social adult outcome for children with neurological disorders. Copyright © 2011 American Neurological Association.

  12. Tics in the Pediatric Population: Pragmatic Management.

    Science.gov (United States)

    Ganos, Christos; Martino, Davide; Pringsheim, Tamara

    2017-01-01

    Primary tic disorders, notably Tourette syndrome, are very common movement disorders in childhood. However, the management of such patients still poses great therapeutic challenges to medical professionals. Based on a synthesis of the available guidelines published in Europe, Canada, and the United States, coupled with more recent therapeutic developments, the authors provide a pragmatic guide to aid clinicians in deciding when and how to treat patients who have primary tic disorders. After a systematic assessment of tics and common neuropsychiatric comorbidities (primarily attention-deficit hyperactivity disorder [ADHD] and obsessive-compulsive disorder [OCD]), the first step in treatment is a comprehensive psychoeducation of patients and families that addresses the protean phenomenology of tics and associated behaviors, coping mechanisms, prognosis, and treatment options. When more active intervention beyond watchful monitoring is indicated, hierarchical evaluation of treatment targets (i.e., tics vs. comorbid behavioral symptoms) is crucial. Behavioral treatments for tics are restricted to older children and are not readily available to all centers, mainly due to the paucity of well-trained therapists. Pharmacological treatments, such as antipsychotics for tics, stimulants and atomoxetine for ADHD, and α2A-agonists for children with tics plus ADHD, represent widely available and effective treatment options, but safety monitoring must be provided. Combined polypharmacological and behavioral/pharmacological approaches, as well as neuromodulation strategies, remain under-investigated in this population of patients. The treatment of children with tics and Tourette syndrome is multifaceted. Multidisciplinary teams with expertise in neurology, psychiatry, psychology, and pediatrics may be helpful to address the complex needs of these children.

  13. Aromatase inhibitors in pediatrics.

    Science.gov (United States)

    Wit, Jan M; Hero, Matti; Nunez, Susan B

    2011-10-25

    Aromatase, an enzyme located in the endoplasmic reticulum of estrogen-producing cells, catalyzes the rate-limiting step in the conversion of androgens to estrogens in many tissues. The clinical features of patients with defects in CYP19A1, the gene encoding aromatase, have revealed a major role for this enzyme in epiphyseal plate closure, which has promoted interest in the use of inhibitors of aromatase to improve adult height. The availability of the selective aromatase inhibitors letrozole and anastrozole--currently approved as adjuvant therapy for breast cancer--have stimulated off-label use of aromatase inhibitors in pediatrics for the following conditions: hyperestrogenism, such as aromatase excess syndrome, Peutz-Jeghers syndrome, McCune-Albright syndrome and functional follicular ovarian cysts; hyperandrogenism, for example, testotoxicosis (also known as familial male-limited precocious puberty) and congenital adrenal hyperplasia; pubertal gynecomastia; and short stature and/or pubertal delay in boys. Current data suggest that aromatase inhibitors are probably effective in the treatment of patients with aromatase excess syndrome or testotoxicosis, partially effective in Peutz-Jeghers and McCune-Albright syndrome, but probably ineffective in gynecomastia. Insufficient data are available in patients with congenital adrenal hyperplasia or functional ovarian cysts. Although aromatase inhibitors appear effective in increasing adult height of boys with short stature and/or pubertal delay, safety concerns, including vertebral deformities, a decrease in serum HDL cholesterol levels and increase of erythrocytosis, are reasons for caution.

  14. Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide

    Directory of Open Access Journals (Sweden)

    Russell P Saneto

    2009-03-01

    Full Text Available Russell P Saneto1, Gail D Anderson21Division of Pediatric Neurology, Seattle Children’s Hospital/University of Washington, Seattle, Washington, USA; 2Department of Pharmacy, University of Washington, Seattle, Washington, USAAbstract: Lennox-Gaustaut syndrome is an electroclinical epilepsy syndrome characterized by the triad of electroencephalogram showing diffuse slow spike-and-wave discharges and paroxysmal fast activity, multiple intractable seizure types, and cognitive impairment. The intractability to seizure medications and cognitive impairment gives rise to eventual institutionalized patient care. Only a small subset of seizure medications has been shown to be helpful in seizure control. Most patients take up to 3 medications at high therapeutic dosing and are susceptible to medication-induced side effects. The lack of medication efficacy in seizure control has led one meta-analysis to conclude that there is no single medication that is highly efficacious in controlling seizures in this syndrome. On this background, a new and structurally novel seizure medication, rufinamide, has been found to be beneficial in the treatment of seizures in this syndrome. In a multicenter, double-blinded, randomized, placebo-controlled study, rufinamide was found to reduce seizures by over 30%. More importantly, it reduced the frequency of the seizure type that induces most of the morbidity of this syndrome, the drop seizure, by over 40%. There were few side effects, the medication was well tolerated, and in the open labeled extension study, tolerance was not found. In this review, we describe the main electroclinical features of Lennox-Gaustaut syndrome and summarize the few controlled studies that have contributed to its rational treatment. Currently, there is no single agent or combination of agents that effectively treat the multiple seizure types and co-morbidities in this syndrome. Our focus will be on the role of the new medication rufinamide in

  15. Magnetic resonance spectroscopy in pediatric neuroradiology: clinical and research applications

    International Nuclear Information System (INIS)

    Panigrahy, Ashok; Nelson, Marvin D.; Blueml, Stefan

    2010-01-01

    Magnetic resonance spectroscopy (MRS) offers a unique, noninvasive approach to assess pediatric neurological abnormalities at microscopic levels by quantifying cellular metabolites. The most widely available MRS method, proton ( 1 H; hydrogen) spectroscopy, is FDA approved for general use and can be ordered by clinicians for pediatric neuroimaging studies if indicated. There are a multitude of both acquisition and post-processing methods that can be used in the implementation of MR spectroscopy. MRS in pediatric neuroimaging is challenging to interpret because of dramatic normal developmental changes that occur in metabolites, particularly in the first year of life. Still, MRS has been proven to provide additional clinically relevant information for several pediatric neurological disease processes such as brain tumors, infectious processes, white matter disorders, and neonatal injury. MRS can also be used as a powerful quantitative research tool. In this article, specific research applications using MRS will be demonstrated in relation to neonatal brain injury and pediatric brain tumor imaging. (orig.)

  16. Neurologic emergencies in HIV-negative immunosuppressed patients.

    Science.gov (United States)

    Guzmán-De-Villoria, J A; Fernández-García, P; Borrego-Ruiz, P J

    HIV-negative immunosuppressed patients comprise a heterogeneous group including transplant patients, patients undergoing treatment with immunosuppressors, uremic patients, alcoholics, undernourished patients, diabetics, patients on dialysis, elderly patients, and those diagnosed with severe or neoplastic processes. Epileptic seizures, focal neurologic signs, and meningoencephalitis are neurologic syndromes that require urgent action. In most of these situations, neuroimaging tests are necessary, but the findings can be different from those observed in immunocompetent patients in function of the inflammatory response. Infectious disease is the first diagnostic suspicion, and the identification of an opportunistic pathogen should be oriented in function of the type and degree of immunosuppression. Other neurologic emergencies include ischemic stroke, cerebral hemorrhage, neoplastic processes, and pharmacological neurotoxicity. This article reviews the role of neuroimaging in HIV-negative immunodepressed patients with a neurologic complication that requires urgent management. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Primary care perceptions of neurology and neurology services.

    Science.gov (United States)

    Loftus, Angela M; Wade, Carrie; McCarron, Mark O

    2016-06-01

    Neurophobia (fear of neural sciences) and evaluation of independent sector contracts in neurology have seldom been examined among general practitioners (GPs). A questionnaire determined GPs' perceptions of neurology compared with other medical specialties. GP experiences of neurology services with independent sector companies and the local National Health Service (NHS) were compared. Areas of potential improvement in NHS neurology services were recorded from thematic analyses. Among 76 GPs neurology was perceived to be as interesting as other medical specialties. GPs reported less knowledge, more difficulty and less confidence in neurology compared with other medical specialties. There was a preference for a local NHS neurology service (pneurology services provided better patient satisfaction. GPs prefer local NHS neurology services to independent sector contracts. GPs' evaluations should inform commissioning of neurology services. Combating neurophobia should be an integral part of responsive commissioning. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  18. Pediatric Terminology

    Science.gov (United States)

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

  19. Pediatric MRI

    Data.gov (United States)

    U.S. Department of Health & Human Services — The NIH Study of Normal Brain Development is a longitudinal study using anatomical MRI, diffusion tensor imaging (DTI), and MR spectroscopy (MRS) to map pediatric...

  20. Bridging neuroanatomy, neuroradiology and neurology: three-dimensional interactive atlas of neurological disorders.

    Science.gov (United States)

    Nowinski, W L; Chua, B C

    2013-06-01

    Understanding brain pathology along with the underlying neuroanatomy and the resulting neurological deficits is of vital importance in medical education and clinical practice. To facilitate and expedite this understanding, we created a three-dimensional (3D) interactive atlas of neurological disorders providing the correspondence between a brain lesion and the resulting disorder(s). The atlas contains a 3D highly parcellated atlas of normal neuroanatomy along with a brain pathology database. Normal neuroanatomy is divided into about 2,300 components, including the cerebrum, cerebellum, brainstem, spinal cord, arteries, veins, dural sinuses, tracts, cranial nerves (CN), white matter, deep gray nuclei, ventricles, visual system, muscles, glands and cervical vertebrae (C1-C5). The brain pathology database contains 144 focal and distributed synthesized lesions (70 vascular, 36 CN-related, and 38 regional anatomy-related), each lesion labeled with the resulting disorder and associated signs, symptoms, and/or syndromes compiled from materials reported in the literature. The initial view of each lesion was preset in terms of its location and size, surrounding surface and sectional (magnetic resonance) neuroanatomy, and labeling of lesion and neuroanatomy. In addition, a glossary of neurological disorders was compiled and for each disorder materials from textbooks were included to provide neurological description. This atlas of neurological disorders is potentially useful to a wide variety of users ranging from medical students, residents and nurses to general practitioners, neuroanatomists, neuroradiologists and neurologists, as it contains both normal (surface and sectional) brain anatomy and pathology correlated with neurological disorders presented in a visual and interactive way.