Science.gov

Sample records for syndrome therapie cellulaire

  1. Therapy of the burnout syndrome

    PubMed Central

    Korczak, Dieter; Wastian, Monika; Schneider, Michael

    2012-01-01

    Background The prevalence, diagnostics and therapy of the burnout syndrome are increasingly discussed in the public. The unclear definition and diagnostics of the burnout syndrome are scientifically criticized. There are several therapies with unclear evidence for the treatment of burnout in existence. Objectives The health technology assessment (HTA) report deals with the question of usage and efficacy of different burnout therapies. Methods For the years 2006 to 2011, a systematic literature research was done in 31 electronic databases (e.g. EMBASE, MEDLINE, PsycINFO). Important inclusion criteria are burnout, therapeutic intervention and treatment outcome. Results 17 studies meet the inclusion criteria and are regarded for the HTA report. The studies are very heterogeneous (sample size, type of intervention, measuring method, level of evidence). Due to their study design (e.g. four reviews, eight randomized controlled trials) the studies have a comparable high evidence: three times 1A, five times 1B, one time 2A, two times 2B and six times 4. 13 of the 17 studies are dealing with the efficacy of psychotherapy and psychosocial interventions for the reduction of burnout (partly in combination with other techniques). Cognitive behaviour therapy leads to the improvement of emotional exhaustion in the majority of the studies. The evidence is inconsistent for the efficacy of stress management and music therapy. Two studies regarding the efficacy of Qigong therapy do not deliver a distinct result. One study proves the efficacy of roots of Rhodiola rosea (evidence level 1B). Physical therapy is only in one study separately examined and does not show a better result than standard therapy. Discussion Despite the number of studies with high evidence the results for the efficacy of burnout therapies are preliminary and do have only limited reach. The authors of the studies complain about the low number of skilled studies for the therapy of burnout. Furthermore, they point to the insufficient evaluation of the therapy studies and the need for further research. Some authors report the effects of considerable natural recovering. Numerous limitations affect the quality of the results. Intervention contents and duration, study design and study size are very diverse and do not permit direct comparison. Most of the samples are small by size with low statistical power, long-term follow-ups are missing. Comorbidities and parallel utilized therapies are insufficient documented or controlled. Most of the studies use the Maslach Burnout Inventory (MBI) as diagnostic or outcome-tool, but with different cut-off-points. It should be noticed that the validity of the MBI as diagnostic tool is not proved. Ethical, juridical and social determining factors are not covered or discussed in the studies. Conclusion The efficacy of therapies for the treatment of the burnout syndrome is insufficient investigated. Only for cognitive behavioural therapy (CBT) exists an adequate number of studies which prove its efficacy. Big long-term experimental studies are missing which compare the efficacy of the single therapies and evaluate their evidence. The natural recovering without any therapy needs further research. Additionally, it has to be examined to what extent therapies and their possible effects are thwarted by the conditions of the working place and the working conditions. PMID:22984372

  2. Complementary and Alternative Therapies for Down Syndrome

    ERIC Educational Resources Information Center

    Roizen, Nancy J.

    2005-01-01

    In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy,…

  3. Cognitive Therapy for Irritable Bowel Syndrome.

    ERIC Educational Resources Information Center

    Greene, Barbara; Blanchard, Edward B.

    1994-01-01

    Randomly assigned 20 patients with irritable bowel syndrome to intensive, individualized cognitive therapy or to daily gastrointestinal symptom monitoring. Pre- to posttreatment evaluations showed significantly greater gastrointestinal symptom reduction for those receiving cognitive therapy than for those in symptom monitoring. At posttreatment,…

  4. Response of Paraneoplastic Syndromes to Antineoplastic Therapy

    PubMed Central

    Markman, Maurie

    1986-01-01

    The development of a clinically apparent paraneoplastic syndrome in a patient with malignant disease is cause for considerable concern as the symptoms can be as serious and difficult to deal with as those produced by the cancer itself. While the information in the medical literature concerning the response of paraneoplastic processes to specific antineoplastic therapy is limited, case reports and small series would suggest that a number of syndromes are alleviated with successful treatment of the underlying neoplasm. As treatment programs for advanced malignant disease improve, a larger percentage of patients suffering from the effects of paraneoplastic processes will benefit from therapy directed at their cancer. PMID:3521097

  5. Music therapy for children with Rett syndrome.

    PubMed

    Yasuhara, A; Sugiyama, Y

    2001-12-01

    The Rett syndrome is good reactivity for sound and music. We enforced active music therapy (MT) individual session to patients with Rett syndrome. The patients were 4, 5 and 6-year-old. The active music therapy and individual session of 30 min/week were performed. It was recorded in video and description, and using the original evaluation list, six items of fact. On largest problem that is hand operation with purpose in childhood of Rett syndrome, we recorded the longest duration and frequency of hand grasping time in one session. There was the improvement of 35.0% of listening music, 33.3% play music, 13.3% singing music, 11.7% minute motion, 11.7% language, and 20.0% personal relation and sociality. The longest duration of hand grasping time was improved from 2 to 12 s in case 2 and from 7 to 80 s in case 3. Grasp frequency which showed the volition rapidly increased from 3 to 41 times, though the elongation for the duration of grasping was little for case 2. Rett syndrome is the disease in which the psychomotor performance regresses with the age, but the aspect that surely developed in the session could be evaluated. Rett syndrome has the ability understanding the music, and music therapy is suitable for them. PMID:11738847

  6. ACMLautomates cellulaire en caml API tutorial

    E-print Network

    Theyssier, Guillaume

    ACMLautomates cellulaire en caml API tutorial how to define your favorite 'bistrouillet' in a few OCaml source code to define cellular automata using the ACML API. A reasonable knowledge of both OCaml). It is a good idea to have a look at the API reference each time you discover a new function name

  7. Music Therapy: A Therapeutic Intervention for Girls with Rett Syndrome.

    ERIC Educational Resources Information Center

    Coleman, Kathleen A.

    The paper reviews music therapy, the educational background of music therapists, music therapy's various settings, and its use as an intervention with girls with Rett Syndrome. Sample music therapy programs for three girls (aged 5, 14, and 20 years) with Rett Syndrome are presented. The sample programs provide: student descriptions; the girls'…

  8. MACROPHAGE ACTIVATION SYNDROME AND CYTOKINE DIRECTED THERAPIES

    PubMed Central

    Grom, Alexei A.

    2014-01-01

    Macrophage activation syndrome (MAS) is an episode of overwhelming inflammation that occurs most commonly in children with systemic juvenile idiopathic arthritis. It is characterized by expansion and activation of T lymphocytes and hemophagocytic macrophages, and bears great similarity to hemophagocytic lymphohistiocytosis (HLH). This disorder has substantial morbidity and mortality, and there is frequently a delay in recognition and initiation of treatment. Here, we will review what is known about the pathogenesis of MAS and in particular its similarities to HLH. The development of MAS is characterized by a cytokine storm, with the elaboration of numerous proinflammatory cytokines. We will examine the evidence for various cytokines in the initiation and pathogenesis of MAS, and discuss how new biologic therapies may alter the risk of MAS. Finally we will review current treatment options for MAS, and examine how cytokine-directed therapy could serve as novel treatment modalities. PMID:24974063

  9. Review of pharmacological therapies in fibromyalgia syndrome

    PubMed Central

    2014-01-01

    This review addresses the current status of drug therapy for the management of fibromyalgia syndrome (FMS) and is based on interdisciplinary FMS management guidelines, meta-analyses of drug trial data, and observational studies. In the absence of a single gold-standard medication, patients are treated with a variety of drugs from different categories, often with limited evidence. Drug therapy is not mandatory for the management of FMS. Pregabalin, duloxetine, milnacipran, and amitriptyline are the current first-line prescribed agents but have had a mostly modest effect. With only a minority of patients expected to experience substantial benefit, most will discontinue therapy because of either a lack of efficacy or tolerability problems. Many drug treatments have undergone limited study and have had negative results. It is unlikely that these failed pilot trials will undergo future study. However, medications, though imperfect, will continue to be a component of treatment strategy for these patients. Both the potential for medication therapy to relieve symptoms and the potential to cause harm should be carefully considered in their administration. PMID:24433463

  10. Evaluation and therapy of polycystic ovarian syndrome.

    PubMed

    Loy, R; Seibel, M M

    1988-12-01

    The amenorrhea associated with bilateral polycystic ovaries, described by Stein and Leventhal, actually represents a syndrome involving various organs and systems. Clinically, this symptom complex commonly presents as menstrual disturbances, infertility, excessive body weight, and hirsutism. An understanding of the pathophysiology that underlies these symptoms provides a logical basis for evaluation and treatment of the syndrome. The diagnostic approach may involve biochemical determinations (baseline, stimulated, and suppressed) and radiologic testing. Therapy is directed at chronic anovulation, the hyperandrogenism responsible for hirsutism and acne, and the prophylaxis against endometrial and breast carcinomas. Ovulation can be induced with various agents, many of which have a risk of ovarian hyperstimulation in the PCOD patient. The use of GnRH agonists with HMG or FSH for ovulation induction will probably increase in the future. Although classic wedge resection has little place in modern management of PCOD, the recent laparoscopic ovarian cautery remains largely unstudied with respect to long-term postoperative plasma androgen levels and pelvic adhesions. It is too premature to evaluate this new surgical therapy. Hirsutism is effectively treated with estrogen-progestin combinations, medroxyprogesterone acetate, androgen receptor blockers (spironolactone, cimetidine, cyproterone acetate, and cyproheptadine), and glucocorticoids. To date, the available GnRH agonists have not been found selective enough to be used in the treatment of hirsutism, owing to possible long-term complications. Most medical approaches should include electrolysis for permanent hair removal. At present, gynecologic surgery seems to have little place in the management of hirsutism. PMID:3143568

  11. [Optimization of pharmacological therapy for weakness syndrome in incurable patients].

    PubMed

    Ryazankina, A A; Rozengard, S A; Glushchenko, V A; Karitsky, A P; Kvashnin, A V

    2015-01-01

    In this work there is considered the possibility of correction of therapy for weakness syndrome in incurable patients with the use of drugs affecting dopamine and serotonin exchanges. It is showed that the use of 100 mg of ladasten, 16 mg of ondansetron orally per day and 50 mg of agomelatine per night is more effective in therapy for fatigue/weakness syndrome in incurable cancer patients compared to standard therapy. PMID:26087610

  12. Irritable Bowel Syndrome: Yoga as Remedial Therapy.

    PubMed

    Kavuri, Vijaya; Raghuram, Nagarathna; Malamud, Ariel; Selvan, Senthamil R

    2015-01-01

    Irritable bowel syndrome (IBS) is a group of symptoms manifesting as a functional gastrointestinal (GI) disorder in which patients experience abdominal pain, discomfort, and bloating that is often relieved with defecation. IBS is often associated with a host of secondary comorbidities such as anxiety, depression, headaches, and fatigue. In this review, we examined the basic principles of Pancha Kosha (five sheaths of human existence) concept from an Indian scripture Taittiriya Upanishad and the pathophysiology of a disease from the Yoga approach, Yoga Vasistha's Adhi (originated from mind) and Vyadhi (ailment/disease) concept. An analogy between the age old, the most profound concept of Adhi-Vyadhi, and modern scientific stress-induced dysregulation of brain-gut axis, as it relates to IBS that could pave way for impacting IBS, is emphasized. Based on these perspectives, a plausible Yoga module as a remedial therapy is provided to better manage the primary and secondary symptoms of IBS. PMID:26064164

  13. Irritable Bowel Syndrome: Yoga as Remedial Therapy

    PubMed Central

    Kavuri, Vijaya; Raghuram, Nagarathna; Malamud, Ariel; Selvan, Senthamil R.

    2015-01-01

    Irritable bowel syndrome (IBS) is a group of symptoms manifesting as a functional gastrointestinal (GI) disorder in which patients experience abdominal pain, discomfort, and bloating that is often relieved with defecation. IBS is often associated with a host of secondary comorbidities such as anxiety, depression, headaches, and fatigue. In this review, we examined the basic principles of Pancha Kosha (five sheaths of human existence) concept from an Indian scripture Taittiriya Upanishad and the pathophysiology of a disease from the Yoga approach, Yoga Vasistha's Adhi (originated from mind) and Vyadhi (ailment/disease) concept. An analogy between the age old, the most profound concept of Adhi-Vyadhi, and modern scientific stress-induced dysregulation of brain-gut axis, as it relates to IBS that could pave way for impacting IBS, is emphasized. Based on these perspectives, a plausible Yoga module as a remedial therapy is provided to better manage the primary and secondary symptoms of IBS. PMID:26064164

  14. Pharmacological therapy for acute respiratory distress syndrome.

    PubMed

    Jain, Raksha; DalNogare, Anthony

    2006-02-01

    Acute respiratory distress syndrome (ARDS) is an Inflammatory process caused by a variety of direct and indirect injuries to the lungs. Despite improvements in supportive care and advances in ventilator management, mortality in patients with ARDS remains high. Multiple pharmacological interventions have been investigated but have not shown improved survival. Clinical trials using corticosterolds, prostaglandins, nitric oxide, prostacyclin, surfactant, lisofylline, ketoconazole, N-acetylcystelne, and fish oil have been unable to show a statistically significant Improvement in patient mortality. As more is understood about the pathophyslology of ARDS, treatment strategies such as increasing alveolar fluid clearance through activation of sodium channels, enhancing repair of alveolar epithelium with growth factors, inhibiting fibrin deposition, blocking proinflammatory transcription factors, preventing the effect of potent vasocontrictors such as endothelin, and using antibodies against key inflammatory cytokines are being explored. This review focuses on the pharmacological treatments studied clinically, proposed reasons for their lack of success, and new concepts emerging in ARDS therapy. PMID:16471076

  15. Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.

    PubMed

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved novel treatment options due to their rarity in the general population. Recent work has allowed the identification of molecular aberrations and associated targeted therapies that may effectively treat these conditions. In this review, we seek to characterize some of the involved aberrations and associated targeted therapies for several germline malignancies, including neurofibromatosis types 1 and 2, and Gorlin syndrome. Though patients with hereditary cancer syndromes may be too rare to effectively include in large clinical trials, by understanding the pathophysiology of these diseases, clinicians can attain insights into the use of targeted therapies in their own practice when treating affected individuals. PMID:25549703

  16. Device therapy in the setting of long QT syndrome.

    PubMed

    Rhodes, Troy; Weiss, Raul

    2015-09-01

    Congenital long QT syndrome (LQTS) is an inherited disorder of myocardial repolarization characterized by prolongation of the QT interval associated with life-threatening polymorphic ventricular tachycardia. The treatment of congenital LQTS involves antiadrenergic therapies: ?-blockers and surgical left cardiac sympathetic denervation (LCSD) to decrease sympathetic input to the heart, cardiac pacing, and implantable cardioverter-defibrillator (ICDs). Although this article focuses on the role of device therapy for the treatment of LQTS, it also discusses the role of ?-blockers and LCSD because they are concomitant with device therapy. After implantation, programming should be optimized to minimize the risk for inappropriate ICD therapies. PMID:26304528

  17. Antidepressants and cognitive-behavioral therapy for symptom syndromes.

    PubMed

    Jackson, Jeffrey L; O'Malley, Patrick G; Kroenke, Kurt

    2006-03-01

    Somatic symptoms are common in primary care and clinicians often prescribe antidepressants as adjunctive therapy. There are many possible reasons why this may work, including treating comorbid depression or anxiety, inhibition of ascending pain pathways, inhibition of prefrontal cortical areas that are responsible for "attention" to noxious stimuli, and the direct effects of the medications on the syndrome. There are good theoretical reasons why antidepressants with balanced norepinephrine and serotonin effects may be more effective than those that act predominantly on one pathway, though head-to-head comparisons are lacking. For the 11 painful syndromes review in this article, cognitive-behavioral therapy is most consistently demonstrated to be effective, with various antidepressants having more or less randomized controlled data supporting or refuting effectiveness. This article reviews the randomized controlled trial data for the use of antidepressant and cognitive-behavior therapy for 11 somatic syndromes: irritable bowel syndrome, chronic back pain, headache, fibromyalgia, chronic fatigue syndrome, tinnitus, menopausal symptoms, chronic facial pain, noncardiac chest pain, interstitial cystitis, and chronic pelvic pain. For some syndromes, the data for or against treatment effectiveness is relatively robust, for many, however, the data, one way or the other is scanty. PMID:16575378

  18. Relaxation therapy in Tourette syndrome: a pilot study.

    PubMed

    Bergin, A; Waranch, H R; Brown, J; Carson, K; Singer, H S

    1998-02-01

    To evaluate the feasibility and efficacy of behavioral relaxation therapy as treatment for Tourette syndrome, 23 patients were recruited from a university-based pediatric Tourette syndrome referral clinic. Individuals were randomized and stratified according to initial tic severity and the presence of attention-deficit hyperactivity disorder into either relaxation therapy or a minimal therapy (control) group. Sixteen patients, mean age 11.8 years (S.D. 2.8 years), completed the 3-month study, which included weekly, hour-long, individual training sessions for 6 weeks. Individuals (n = 7) in the relaxation therapy group demonstrated a significantly increased ability to relax, compared with the minimal therapy (awareness and quiet time training) group. At 6 weeks, tic findings, based on five established tic severity scales, revealed greater improvement in the relaxation treatment group, but values failed to reach statistical significance. No difference between therapy groups was apparent at the 3-month evaluation. The acquired ability to relax did not significantly affect behavioral measures on the Child Behavioral Checklist. On the basis of this pilot study, relaxation therapy appears to have a limited role in the treatment of tics in Tourette syndrome. PMID:9535299

  19. Favre-Racouchot syndrome associated with radiation therapy

    SciTech Connect

    Friedman, S.J.; Su, W.P.

    1983-03-01

    A 56-year-old woman developed Favre-Racouchot syndrome involving her face and scalp primarily at the sites of x-ray irradiation for therapy of an astrocytoma. The patient had not had comedones prior to radiotherapy and did not have a history of excessive sun exposure. The patient showed an excellent response to topical retinoic acid gel. To the best of our knowledge, this is the first case of Favre-Racouchot syndrome developing after radiation therapy to be reported in the literature; its pathogenesis is discussed in this paper.

  20. Family Therapy of the Moderate Type of Parental Alienation Syndrome.

    ERIC Educational Resources Information Center

    Gardner, Richard A.

    1999-01-01

    Modification of traditional family therapy approaches are warranted if there is to be any chance of success in the treatment of Parental Alienation Syndrome families. Especially important is the full support of the court. Describes the special family therapeutic techniques warranted in the treatment of families in which the Parental Alienation…

  1. Massage therapy as an effective treatment for carpal tunnel syndrome.

    PubMed

    Elliott, Rex; Burkett, Brendan

    2013-07-01

    Carpal tunnel syndrome is a common peripheral entrapment that causes neuralgia in the median nerve distribution of the hand. The primary aim of this study was to evaluate the efficacy of massage therapy as a treatment for carpal tunnel syndrome. Within this process, the locations of trigger-points that refer neuropathy to the hand were identified. The creation of massage pressure tables provides a means of treatment reproducibility. Twenty-one participants received 30 min of massage, twice a week, for six weeks. Carpal tunnel questionnaires, the Phalen, Tinel, and two-point discrimination tests provided outcome assessment. The results demonstrated significant (p < 0.001) change in symptom severity and functional status from two weeks. Based on this study, the combination of massage and trigger-point therapy is a viable treatment option for carpal tunnel syndrome and offers a new treatment approach. PMID:23768278

  2. Genitourinary syndrome of menopause and the use of laser therapy.

    PubMed

    Hutchinson-Colas, Juana; Segal, Saya

    2015-12-01

    Genitourinary syndrome of menopause is a common condition that left untreated can progress and negatively affect quality of life and sexual function. Laser therapy has a therapeutic role for several gynecologic conditions and most recently has gained interest as a non-hormonal treatment for genitourinary syndrome of menopause (GSM). The laser is well tolerated and may increase thickness of the squamous epithelium and improve vascularity of the vagina. These morphological changes presumably alleviate symptoms of dryness, dyspareunia, and irritation. However, the duration of therapeutic effects and safety of repeated applications at this point is not clear. Further research is needed in the form of controlled studies of the laser and other non-hormonal GSM therapies. The objective of this paper is to review the existing literature describing laser therapy for GSM. PMID:26323234

  3. Behçet syndrome: from pathogenesis to novel therapies.

    PubMed

    Mazzoccoli, Gianluigi; Matarangolo, Angela; Rubino, Rosa; Inglese, Michele; De Cata, Angelo

    2014-12-01

    Behçet syndrome is a chronic disease hallmarked by inflammation of the blood vessels that is related to an autoimmune reaction caused by inherited susceptibility due to specific genes and environmental factors, probably components of infectious microorganisms, which turn on or get going the disease in genetically susceptible subjects. The more common clinical expression of the disease is represented by a triple-symptom complex of recurrent oral aphthous ulcers, genital ulcers, and uveitis, sometimes associated with inflammatory arthritis, phlebitis, iritis, as well as inflammation of the digestive tract, brain, and spinal cord. The treatment strategies used to manage the manifestations of Behçet syndrome have gradually progressed, and a number of new therapeutic resources have been implemented in recent years, allowing better control of pathogenic mechanisms, reducing symptoms and suffering, and ameliorating patient's outcome. PMID:25447032

  4. Sciences de la vie Biologie Cellulaire et Physiologie

    E-print Network

    Sart, Remi

    Sciences de la vie 4 PARCOURS Biologie Cellulaire et Physiologie Biologie des Organismes, des la vie est de fournir une solide formation de base en biologie. Après un socle de connaissances des semestres suivants dans les différentes disciplines. L'offre de formation de la licence Biologie

  5. Reversible Posterior Leukoencephalopathy Syndrome Due to Carboplatin and Paclitaxel Therapy

    PubMed Central

    Kandemir, Melek; Küçükkaya, Belgin; Tepe, Muzaffer Sava?; Yalç?ner, Zehra Betül; Salepçi, Nedret Taflan

    2015-01-01

    Background: Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinicoradiologic syndrome characterized by headache, decreased alertness, seizures, visual abnormalities, and white matter changes indicative of cerebral edema. Although the pathogenesis remains poorly understood, several etiological causes have been described. RPLS is a common complication of chemotherapeutics because of its toxic effect on the central nervous system. This syndrome is frequently associated with seizures but rarely seen with status epilepticus and periodic lateralized epileptiform discharges (PLEDs). Case Report: We present a case with metastatic lung cancer that developed RPLS after carboplatin and paclitaxel therapy. Our case was admitted to the hospital with status epilepticus and her electroencephalography showed PLEDs. Conclusion: It is important to closely monitor blood pressure and electrolyte levels in patients who take chemotherapeutic agents, especially when there is no previous history of hypertension. It should be kept in mind that RPLS is a causative factor of status epilepticus and PLEDs.

  6. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    DOEpatents

    Smith, Desmond J. (Oakland, CA); Rubin, Edward M. (Berkeley, CA)

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  7. [Syndrome of inadequate ADH secretion: pitfalls in diagnosis and therapy].

    PubMed

    Schäffler, Andreas; Lindner, Uwe

    2015-03-01

    Euvolemic hyponatremia is most frequently caused by the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Causes of SIADH-induced hyponatremia are myriad and include tumors, pulmonary diseases or central nervous system disorders. SIADH can also be induced by a broad spectrum of drugs such as antidepressants and antiepileptics. The unfavorable prognostic relevance of hyponatremia is often underestimated. SIADH therapy focuses on the treatment of the underlying disease. Thus, a thorough differential diagnostic assessment of the genesis of SIADH is crucial. Therapy options for euvolemic hyponatremia include fluid restriction, administration of hyperosmolar saline solution in case of severe symptoms, or therapy with tolvaptan. Tolvaptan is a selective, oral vasopressin-V2-receptor-antagonist that inhibits ADH-induced retention of electrolyte-free water in the connecting duct of the kidney. This inhibition results in an increased serum sodium level. Close monitoring of serum sodium levels and volume status is imperative, especially during the initial phase of therapy. Fluid restriction is unnecessary during tolvaptan therapy; a previously prescribed fluid re-striction should be stopped when therapy begins. Treatment with tolvaptan can often result in a rapid and controlled improvement of the symptoms. Different cases presented in this article illustrate the diversity of SIADH in clinical practice relating to its diagnosis and its therapy as well as difficulties in identifying the underlying cause in clinical practice. PMID:25734677

  8. Diagnosis and therapy of antiphospholipid syndrome.

    PubMed

    Pengo, Vittorio; Denas, Gentian; Padayattil, Seena J; Zoppellaro, Giacomo; Bison, Elisa; Banzato, Alessandra; Hoxha, Ariela; Ruffatti, Amelia

    2015-09-25

    Antiphospholipid syndrome (APS) is a clinical condition that has not been well defined yet. Although the clinical component is well established, the laboratory part is a mood issue. According to current guidelines, 3 tests (lupus anticoagulant, anticardiolipin, and anti ?2-glycoprotein I antibodies) are officially recommended to assess the presence of antiphospholipid antibodies. According to test positivity, patients are classified into categories in clinical studies. However, it is now clear that classification categories have a different impact on the clinical course of APS. Indeed, patients and healthy carriers with a full positive antibody profile (triple positivity) are those at the highest risk of events. Patients with a single test positivity are those at a lower risk. In this review, on the basis of a laboratory profile, we grade the diagnosis of APS into definite, probable/possible, and uncertain. We also discuss secondary prevention of thrombotic APS, prevention of pregnancy morbidity, and treatment of catastrophic APS. Finally, new tools in laboratory diagnosis and treatment are highlighted. PMID:26307097

  9. Corticosteroid Injections Versus Manual Physical Therapy for Treatment of the Shoulder Impingement Syndrome

    MedlinePLUS

    ... Medicine Summaries for Patients Corticosteroid Injections Versus Manual Physical Therapy for Treatment of the Shoulder Impingement Syndrome The ... Outcome of Subacromial Corticosteroid Injection Compared With Manual Physical Therapy for the Management of the Unilateral Shoulder Impingement ...

  10. Therapy of endocrine disease: steroidogenesis enzyme inhibitors in Cushing's syndrome.

    PubMed

    Daniel, Eleni; Newell-Price, John D C

    2015-06-01

    Steroidogenesis enzyme inhibitors are the mainstay of medical therapy in Cushing's syndrome (CS). Ketoconazole (KTZ) and metyrapone are the most commonly used agents. Although there is considerable experience of their use in individual specialist centres, these drugs have not been rigorously tested in prospective clinical trials. Clinicians face uncertainties and concerns with respect to the safety profile of these agents, and best means to monitor effect. We review steroidogenesis inhibitors in the management of CS, including older agents (KTZ, metyrapone, etomidate and mitotane) and those currently under development (LCI699, non-racemic KTZ), and offer a practical approach for their use in clinical practice. PMID:25637072

  11. Use of maggot debridement therapy for tropical diabetic hand syndrome.

    PubMed

    Jiang, K C; Luo, N; Chen, Y C; Wang, A P

    2013-05-01

    Diabetic patients with infectious hand ulceration, known as tropical diabetic hand syndrome (TDHS), are generally less well recognised than those with foot ulcers. Maggot debridement therapy (MDT) is usually used for the treatment of diabetic foot ulcers and, in these wounds, the remarkable wound cleansing properties can be of considerable value. However, it is less commonly used in TDHS. Here we present a case of TDHS in a 51-year-old man with type II diabetes, hypertension and dilated cardiomyopathy, in which conventional therapy had minimal effect, but significant wound debridement was achieved with MDT. This suggests that MDT may be a cost-effective alternative to conventional treatments for the debridement of TDHS. PMID:23702721

  12. Children with Down Syndrome Improved in Motor Functioning and Muscle Tone Following Massage Therapy

    ERIC Educational Resources Information Center

    Hernandez-Reif, Maria; Field, Tiffany; Largie, Shay; Mora, Dana; Bornstein, Joan; Waldman, Ronnie

    2006-01-01

    Twenty-one moderate to high functioning young children (mean age, two years) with Down syndrome receiving early intervention (physical therapy, occupational therapy and speech therapy) were randomly assigned to additionally receive two 0.5-hour massage therapy or reading sessions (control group) per week for two months. On the first and last day…

  13. Vitamin Therapy and Children with Down's Syndrome: A Review of Research.

    ERIC Educational Resources Information Center

    Pruess, James B.; And Others

    1989-01-01

    Following a brief outline of vitamin therapy's effects on schizophrenia and learning disabilities, research is reviewed on vitamin therapy for children with Down's Syndrome, concluding with a discussion of critical responses to research endorsing vitamin therapy. It is concluded that vitamin therapy contributes nothing to the development of…

  14. Cervical Syndrome – the Effectiveness of Physical Therapy Interventions

    PubMed Central

    Kasumovic, Mersija; Gorcevic, Emir; Gorcevic, Semir; Osmanovic, Jasna

    2013-01-01

    ABSTRACT Introduction: The cervical syndrome refers to a set of disorders caused by the changes in the cervical spine and the soft-tissue surrounding it, with pain as the predominant symptom. Sore neck has been a common problem among a large section of today`s population. The factors contributing to this issue include the modern lifestyle, prolonged sitting and incorrect, fixed or constrained working postures. The root of these difficulties is found in the mechanical disorders of the cervical spine structures, poor body posture and jerky body movements. In the Scandinavian countries neck pain is considered to be a public health problem. Methods: The study evaluated 25 patients with an established diagnosis of cervical syndrome. The research was conducted at the PI Institute of Occupational and Sports Medicine of Zenica–Doboj Canton. Each patient received twenty physical therapy treatment sessions. Results and conclusions: The study included 25 patients suffering from the cervical syndrome. The statistical analysis of gender distribution indicated that 36% of the patients were male, while 64% were female. The mean age of study participants was 46.76±4,23. The patients ranged in age from 39 to 54 years, with no statistically significant difference in the mean age of male and female patients, p=0.691. Analysing the types of occupational activities performed by the patients, the study found a positive relation between neck pain and prolonged sitting at work. The patients who performed office work made up 76% of the total number. Each method of physical therapy applied in the treatment of neck pain patients proved useful. However, the combination of electrotherapy, kinesiotherapy and manual massage proved to be most effective. Conclusion: The cervical syndrome is a common medical condition primarily affecting adult population, with prevalence being higher among women and office workers. The condition places a considerable socioeconomic burden on the afflicted. Cervical pain ranges greatly in severity – from moderate to unbearable, thus leading to high levels of work absence as well as to a decrease in the quality of life. Proper physical therapy program can help the patients with neck pain return to their normal everyday activities, improve their quality of life, as well as reduce the absence from work. PMID:25568511

  15. Cyclophosphamide Therapy in the Nephrotic Syndrome in Childhood*

    PubMed Central

    Moncrieff, M. W.; White, R. H. R.; Ogg, C. S.; Cameron, J. S.

    1969-01-01

    Forty-six children with the nephrotic syndrome whose renal biopsy specimens showed minimal changes and whose response to corticosteroid therapy was unsatisfactory were treated with cyclophosphamide. Three patients were completely steroid-resistant from the outset and the remainder were steroid-dependent. In several patients steroids controlled the condition less effectively with time. Most patients showed signs of steroid toxicity, and growth retardation was striking. A moderate leucopenia was induced with cyclophosphamide, and treatment was maintained for three to four months in the majority of cases. Thirty-eight children (83%) have remained in complete remission off all treatment for periods of 3 to 23 months, 33 after one course of cyclophosphamide and five after a second course. Two other patients who remitted but relapsed later are still on treatment. In only six patients was full remission not obtained, and three of these were steroid-resistant from the start. Two died from pneumonia and adrenal failure and four continued to have proteinuria, though in one an impressive reduction occurred. The results indicate that cyclophosphamide therapy is an effective alternative for nephrotic children with normal glomeruli on light microscopy who develop steroid dependence or resistance, and who exhibit toxic effects of steroid therapy. PMID:5774315

  16. More is better: combination therapies for myelodysplastic syndromes.

    PubMed

    Ornstein, Moshe C; Mukherjee, Sudipto; Sekeres, Mikkael A

    2015-03-01

    The myelodysplastic syndromes (MDS) are a heterogenous collection of clonal hematopoietic malignancies that exist as a subgroup of the myeloid neoplasms as classified by the World Health Organization (WHO). They are characterized by ineffective hematopoiesis, subsequent cytopenias, transformation to acute myeloid leukemia (AML), and poor overall survival. There are currently three FDA-approved medications for MDS; lenalidomide, azacitidine, and decitabine. The role of these agents is to diminish the clinical impact of MDS and delay its progression to AML. However, despite known results with these monotherapies, recent clinical trials with a variety of combinations for MDS have demonstrated promising results. These trials include combinations of hypomethylating agents, histone deacetylase inhibitors, growth factors, and chemotherapy among others. In this paper we review the current literature on combination therapies in MDS, analyze on-going and concluded trials, and suggest future possibilities for combination strategies in MDS. PMID:25659727

  17. Morquio A Syndrome: Diagnosis and Current and Future Therapies

    PubMed Central

    Tomatsu, Shunji; Yasuda, Eriko; Patel, Pravin; Ruhnke, Kristen; Shimada, Tsutomu; Mackenzie, William G.; Mason, Robert; Thacker, Mihir M.; Theroux, Mary; Montaño, Adriana M.; Alméciga-Díaz, Carlos J.; Barrera, Luis A.; Chinen, Yasutsugu; Sly, William S.; Rowan, Daniel; Suzuki, Yasuyuki; Orii, Tadao

    2014-01-01

    Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia. Chondrogenesis, the earliest phase of skeletal formation that leads to cartilage and bone formation is controlled by cellular interactions with the ECM, growth and differentiation factors and other molecules that affect signaling pathways and transcription factors in a temporal-spatial manner. In Morquio A patients, in early childhood or even at birth, the cartilage is disrupted presumably as a result of abnormal chondrogenesis and/or endochondral ossification. The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints. In spite of many descriptions of the unique clinical manifestations, diagnosis delay still occurs. The pathogenesis of systemic skeletal dysplasia in Morquio A syndrome remains an enigmatic challenge. In this review article, screening, diagnosis, pathogenesis and current and future therapies of Morquio A are discussed. PMID:25345096

  18. Metabolic Syndromes Associated with HIV: Mitigating the Side Effects of Drug Therapy.

    ERIC Educational Resources Information Center

    Stringer, William W.; Sattler, Fred R.

    2001-01-01

    HIV infection and highly active antiretroviral therapy (HAART) are associated with such metabolic disorders as AIDS wasting syndrome, metabolic dysregulation, and abnormalities of serum lipids. Adjunctive therapies (e.g., diet and antilipid therapy); risk factor modification (e.g., smoking cessation and blood pressure control); aerobic exercise;…

  19. Differentiation Therapy With Decitabine in Treating Patients With Myelodysplastic Syndrome

    ClinicalTrials.gov

    2013-02-25

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Thrombocytopenia

  20. Physical Therapy and Infants with Down's Syndrome: The Effects of Early Intervention.

    ERIC Educational Resources Information Center

    Harris, Susan R.

    1981-01-01

    The neuromotor development of Down's syndrome (DS) infants is reviewed, current physical therapy approaches are cited, a neurodevelopmental treatment (NDT) approach is described, and a study on the effects of NDT on motor performance in DS infants is reported. (SB)

  1. Hyperbaric Oxygen Therapy Can Diminish Fibromyalgia Syndrome – Prospective Clinical Trial

    PubMed Central

    Efrati, Shai; Golan, Haim; Bechor, Yair; Faran, Yifat; Daphna-Tekoah, Shir; Sekler, Gal; Fishlev, Gregori; Ablin, Jacob N.; Bergan, Jacob; Volkov, Olga; Friedman, Mony; Ben-Jacob, Eshel; Buskila, Dan

    2015-01-01

    Background Fibromyalgia Syndrome (FMS) is a persistent and debilitating disorder estimated to impair the quality of life of 2–4% of the population, with 9:1 female-to-male incidence ratio. FMS is an important representative example of central nervous system sensitization and is associated with abnormal brain activity. Key symptoms include chronic widespread pain, allodynia and diffuse tenderness, along with fatigue and sleep disturbance. The syndrome is still elusive and refractory. The goal of this study was to evaluate the effect of hyperbaric oxygen therapy (HBOT) on symptoms and brain activity in FMS. Methods and Findings A prospective, active control, crossover clinical trial. Patients were randomly assigned to treated and crossover groups: The treated group patients were evaluated at baseline and after HBOT. Patients in the crossover-control group were evaluated three times: baseline, after a control period of no treatment, and after HBOT. Evaluations consisted of physical examination, including tender point count and pain threshold, extensive evaluation of quality of life, and single photon emission computed tomography (SPECT) imaging for evaluation of brain activity. The HBOT protocol comprised 40 sessions, 5 days/week, 90 minutes, 100% oxygen at 2ATA. Sixty female patients were included, aged 21–67 years and diagnosed with FMS at least 2 years earlier. HBOT in both groups led to significant amelioration of all FMS symptoms, with significant improvement in life quality. Analysis of SPECT imaging revealed rectification of the abnormal brain activity: decrease of the hyperactivity mainly in the posterior region and elevation of the reduced activity mainly in frontal areas. No improvement in any of the parameters was observed following the control period. Conclusions The study provides evidence that HBOT can improve the symptoms and life quality of FMS patients. Moreover, it shows that HBOT can induce neuroplasticity and significantly rectify abnormal brain activity in pain related areas of FMS patients. Trial Registration ClinicalTrials.gov NCT01827683 PMID:26010952

  2. Timing of therapies for Down syndrome: the sooner, the better

    PubMed Central

    Stagni, Fiorenza; Giacomini, Andrea; Guidi, Sandra; Ciani, Elisabetta; Bartesaghi, Renata

    2015-01-01

    Intellectual disability (ID) is the unavoidable hallmark of Down syndrome (DS), with a heavy impact on public health. Accumulating evidence shows that DS is characterized by numerous neurodevelopmental alterations among which the reduction of neurogenesis, dendritic hypotrophy and connectivity alterations appear to play a particularly prominent role. Although the mechanisms whereby gene triplication impairs brain development in DS have not been fully clarified, it is theoretically possible to correct trisomy-dependent defects with targeted pharmacotherapies. This review summarizes what we know about the effects of pharmacotherapies during different life stages in mouse models of DS. Since brain alterations in DS start to be present prenatally, the prenatal period represents an optimum window of opportunity for therapeutic interventions. Importantly, recent studies clearly show that treatment during the prenatal period can rescue overall brain development and behavior and that this effect outlasts treatment cessation. Although late therapies are unlikely to exert drastic changes in the brain, they may have an impact on the hippocampus, a brain region where neurogenesis continues throughout life. Indeed, treatment at adult life stages improves or even rescues hippocampal neurogenesis and connectivity and hippocampal-dependent learning and memory, although the duration of these effects still remains, in the majority of cases, a matter of investigation. The exciting discovery that trisomy-linked brain abnormalities can be prevented with early interventions gives us reason to believe that treatments during pregnancy may rescue brain development in fetuses with DS. For this reason we deem it extremely important to expedite the discovery of additional therapies practicable in humans in order to identify the best treatment/s in terms of efficacy and paucity of side effects. Prompt achievement of this goal is the big challenge for the scientific community of researchers interested in DS. PMID:26500515

  3. Endovascular Therapy Is Effective for Leriche Syndrome with Deep Vein Thrombosis

    PubMed Central

    Higashihara, Tasuku; Shiode, Nobuo; Kawase, Tomoharu; Tamekiyo, Hiromichi; Otsuka, Masaya; Okimoto, Tomokazu; Hayashi, Yasuhiko

    2015-01-01

    A 65-year-old man presented to our hospital due to intermittent claudication and swelling in his left leg. He had Leriche syndrome and deep vein thrombosis. We performed endovascular therapy (EVT) for Leriche syndrome, and a temporary filter was inserted in the inferior vena cava. He received anticoagulation therapy for deep vein thrombosis. The stenotic lesion in the terminal aorta was stented with an excellent postprocedural angiographic result and dramatic clinical improvement after EVT. This case suggests that EVT can be a treatment for Leriche syndrome. PMID:26064695

  4. Endovascular Therapy Is Effective for Leriche Syndrome with Deep Vein Thrombosis.

    PubMed

    Higashihara, Tasuku; Shiode, Nobuo; Kawase, Tomoharu; Tamekiyo, Hiromichi; Otsuka, Masaya; Okimoto, Tomokazu; Hayashi, Yasuhiko

    2015-01-01

    A 65-year-old man presented to our hospital due to intermittent claudication and swelling in his left leg. He had Leriche syndrome and deep vein thrombosis. We performed endovascular therapy (EVT) for Leriche syndrome, and a temporary filter was inserted in the inferior vena cava. He received anticoagulation therapy for deep vein thrombosis. The stenotic lesion in the terminal aorta was stented with an excellent postprocedural angiographic result and dramatic clinical improvement after EVT. This case suggests that EVT can be a treatment for Leriche syndrome. PMID:26064695

  5. DTAILS DES ENSEIGNEMENTS DE L1 SVT Biologie cellulaire I (24h: 18h CM et 6h TD)

    E-print Network

    Avignon et des Pays de Vaucluse, Université de

    DÉTAILS DES ENSEIGNEMENTS DE L1 SVT SEMESTRE 1 Biologie cellulaire I (24h: 18h CM et 6h TD) Enseignants: F CHARLES, F MONNET, C MAZZIA, S SUCHAIL Le cours de Biologie Cellulaire a pour objectif de fonctions. Biologie cellulaire II (22,5h: 9h CM, 4.5h TD et 9h TP) Enseignants: F CHARLES, F MONNET, C

  6. Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation

    PubMed Central

    Kim, Sung-Yong; Le Rademacher, Jennifer; Antin, Joseph H.; Anderlini, Paolo; Ayas, Mouhab; Battiwalla, Minoo; Carreras, Jeanette; Kurtzberg, Joanne; Nakamura, Ryotaro; Eapen, Mary; Deeg, H. Joachim

    2014-01-01

    A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoietic stem cell transplantation, and in a matched-pair analysis compared outcome to that in 393 patients with de novo myelodysplastic syndrome. There was no difference in overall survival. There were no significant differences with regard to 5-year probabilities of relapse, non-relapse mortality, relapse-free survival and overall survival; these were 14%, 40%, 46% and 49% for post-aplastic anemia myelodysplastic syndrome, and 20%, 33%, 47% and 49% for de novo myelodysplastic syndrome, respectively. In multivariate analysis, relapse (hazard ratio 0.71; P=0.18), non-relapse mortality (hazard ratio 1.28; P=0.18), relapse-free survival (hazard ratio 0.97; P=0.80) and overall survival (hazard ratio 1.02; P=0.88) of post-aplastic anemia myelodysplastic syndrome were similar to those of patients with de novo myelodysplastic syndrome. Cytogenetic risk was independently associated with overall survival in both groups. Thus, transplant success in patients with post-aplastic anemia myelodysplastic syndrome was similar to that in patients with de novo myelodysplastic syndrome, and cytogenetics was the only significant prognostic factor for post-aplastic anemia myelodysplastic syndrome patients. PMID:25107891

  7. Chronic Fatigue Syndrome and Women: Can Therapy Help?

    ERIC Educational Resources Information Center

    Burke, Susan G.

    1992-01-01

    Presents current research on chronic fatigue syndrome, which currently afflicts mostly females between ages of 25 and 55. Notes that, because depression is common symptom of chronic fatigue syndrome, mental health practitioners are often involved with victims and must formulate appropriate treatment strategy that considers physiological,…

  8. Bright light therapy for the treatment of night eating syndrome: A pilot study.

    PubMed

    McCune, Ashley M; Lundgren, Jennifer D

    2015-09-30

    The effect of bright light therapy (BLT) on the symptoms of night eating syndrome was evaluated. Fifteen adults completed two weeks of daily 10,000 lux BLT administered in the morning. Significant reductions were found pre-to-post treatment in night eating symptomatology, mood disturbance, and sleep disturbance. This pilot trial provides preliminary support for the efficacy of BLT for the treatment of night eating syndrome. PMID:26239768

  9. Family Therapy of Brain Injury: Syndromes, Strategies, and Solutions.

    ERIC Educational Resources Information Center

    Miller, Laurence

    1993-01-01

    Describes effects that brain-injured patient may have on family system and kinds of reactions typically seen in family members. Describes strategies of family therapy in brain injury, including education, supportive counseling, and more intensive family therapy modalities. Considers goals and outcomes of family therapy with this group and offers…

  10. Antiplatelet Therapy and Percutaneous Coronary Intervention in Patients with Acute Coronary Syndrome and Thrombocytopenia

    PubMed Central

    Yusuf, Syed Wamique; Iliescu, Cezar; Bathina, Jaya D.; Daher, Iyad N.; Durand, Jean-Bernard

    2010-01-01

    Platelets are crucial in the pathogenesis of acute coronary syndrome. Treatment for acute coronary syndrome usually involves antiplatelet, anticoagulant, and antithrombotic therapy, and the performance of percutaneous coronary intervention. All of the medications are associated with bleeding sequelae and are typically withheld from patients who have thrombocytopenia. The safety of antiplatelet therapy and percutaneous coronary intervention in patients who have acute coronary syndrome and thrombocytopenia is unknown, and there are no guidelines or randomized studies to suggest a treatment approach in such patients. Acute coronary syndrome is uncommon in patients who have thrombocytopenia; however, it occurs in up to 39% of patients who have both thrombocytopenia and cancer. Herein, we present the cases of 5 patients with acute coronary syndrome, thrombocytopenia, and cancer who underwent percutaneous coronary intervention with stenting. Before intervention, their platelet counts ranged from 17 to 72 × 109/L. One patient underwent preprocedural platelet transfusion. All were given aspirin, alone or with clopidogrel. One patient experienced melena (of colonic origin). No other patient experienced bleeding sequelae. Aside from the occasional use of antiplatelet and thrombolytic agents in patients with thrombocytopenia, no therapeutic recommendation can be made until data are available on a larger patient population. Until then, treatment should conform to specific clinical circumstances. Approaches to the treatment of acute coronary syndrome in patients with thrombocytopenia might be better directed toward the evaluation of platelet function rather than toward absolute platelet count, and the risk–benefit equation of invasive procedures and antithrombotic therapies may need to incorporate this information. PMID:20548817

  11. Prospects for Gene Therapy in the Fragile X Syndrome

    ERIC Educational Resources Information Center

    Rattazzi, Mario C.; LaFauci, Giuseppe; Brown, W. Ted

    2004-01-01

    Gene therapy is unarguably the definitive way to treat, and possibly cure, genetic diseases. A straightforward concept in theory, in practice it has proven difficult to realize, even when directed to easily accessed somatic cell systems. Gene therapy for diseases in which the central nervous system (CNS) is the target organ presents even greater…

  12. Successful Treatment of Olfactory Reference Syndrome with Cognitive Behavioral Therapy: A Case Study

    ERIC Educational Resources Information Center

    Martin-Pichora, Andrea L.; Antony, Martin M.

    2011-01-01

    Olfactory reference syndrome (ORS) is characterized by a preoccupation with the belief that one's body emits a foul odor. Cognitive behavioral therapy (CBT) was used to treat a woman in her 50s who presented in our outpatient anxiety disorders specialty clinic with ORS, accompanied by embarrassment, shame, distress, avoidance behavior, and social…

  13. Music Therapy for Children with Down Syndrome: Perceptions of Caregivers in a Special School Setting

    ERIC Educational Resources Information Center

    Pienaar, Dorothea

    2012-01-01

    Down syndrome (DS) is a genetic disorder resulting from chromosome 21 having three copies (trisomy 21). Cognitive functioning and anatomical features cause speech and language development delay (Kumin, 2003). Children with DS generally enjoy communication (Schoenbrodt, 2004), and respond well to interaction and social scripts. Music therapy has…

  14. Implementing Cognitive Behavioral Therapy for Chronic Fatigue Syndrome in a Mental Health Center: A Benchmarking Evaluation

    ERIC Educational Resources Information Center

    Scheeres, Korine; Wensing, Michel; Knoop, Hans; Bleijenberg, Gijs

    2008-01-01

    Objective: This study evaluated the success of implementing cognitive behavioral therapy (CBT) for chronic fatigue syndrome (CFS) in a representative clinical practice setting and compared the patient outcomes with those of previously published randomized controlled trials (RCTs) of CBT for CFS. Method: The implementation interventions were the…

  15. Increase in Prefrontal Cortical Volume following Cognitive Behavioural Therapy in Patients with Chronic Fatigue Syndrome

    ERIC Educational Resources Information Center

    de Lange, Floris P.; Koers, Anda; Kalkman, Joke S.; Bleijenberg, Gijs; Hagoort, Peter; van der Meer, Jos W. M.; Toni, Ivan

    2008-01-01

    Chronic fatigue syndrome (CFS) is a disabling disorder, characterized by persistent or relapsing fatigue. Recent studies have detected a decrease in cortical grey matter volume in patients with CFS, but it is unclear whether this cerebral atrophy constitutes a cause or a consequence of the disease. Cognitive behavioural therapy (CBT) is an…

  16. Cognitive Behavior Therapy for Relatively Active and for Passive Chronic Fatigue Syndrome Patients

    ERIC Educational Resources Information Center

    Bazelmans, Ellen; Prins, Judith; Bleijenberg, Gijs

    2006-01-01

    In chronic fatigue syndrome (CFS), facilitating, initiating, and perpetuating factors are distinguished. Although somatic factors might have initiated symptoms in CFS, they do not explain the persistence of fatigue. Cognitive behavior therapy (CBT) for CFS focuses on factors that perpetuate and prolong symptoms. Recently it has been shown that,…

  17. Losartan therapy for cardiac disease in paediatricMarfan syndrome.

    PubMed

    Ewans, Lisa J; Roberts, Phillip; Adès, Lesley

    2015-09-01

    A case of severe early-onset Marfan syndrome (MFS) led us to ask the question: 'Should an ARB, particularly losartan [intervention], compared with beta blockade alone [comparison], be commenced in all paediatric MFS patients [patient] with aortic root dilatation [outcome]?' The current literature was critically appraised to address this question. PMID:26333075

  18. [Magnetopuncture therapy in the combined corrective treatment of clinical manifestations of non-specific distress syndrome].

    PubMed

    El'chininov, N V

    2009-01-01

    The efficiency of a combined approach to the correction of clinical manifestations of non-specific distress syndrome was evaluated in patients with psychovegetative syndrome by comparing effects of phytoaeroionotherapy, graduated physical exercises, and soft tissue manual therapy in different combinations with simultaneous magnetopuncture therapy and without it. It was shown that above therapeutic modalities combined with magnetotherapy decreased the degree of asymmetry of both right and left heart meridians (by 60.5%) and interhemisphere asymmetry of blood flow in the system of internal carotid arteries (by 74.19%), reduced the tone of cerebral arterioles and veins (by 40.7% and 8.6% respectively), improved symptomes of depression and asthenia (by 23.2% and 63.9% respectively), increased mental performance quotient and activity indices (by 34.7% and 28.7% respectively). These changes were far less significant in the absence of by magnetopuncture therapy. PMID:19514296

  19. [Drug therapy in complex regional pain syndrome type I].

    PubMed

    Von Eisenhart-Rothe, R; Rittmeister, M

    2004-07-01

    Pharmacologic treatment options for complex regional pain syndrome (CRPS) type I are discussed and drug effectiveness is graded according to the level of evidence available. Various drug strategies in the treatment of CRPS type I, i.e. NSAIDs, corticosteroids, free radical scavengers, antidepressants, anticonvulsants, local anesthetics, opioid analgesics, clonidine, capsaicin, NMDA receptor antagonists, calcitonin, bisphosphonates, GABA(B)-agonists, alpha-blockers, IVRA (bretylium/ketanserin), IVRA (clonidine), IVRSB, local anesthetics sympathetic blockade, GLOA and iloprost are discussed. PMID:15150686

  20. Urothelial Superior Vena Cava Syndrome with Limited Response to Radiation Therapy

    PubMed Central

    Bingham, Nishan; Wallace III, H. James; Monterroso, Joanne; Verschraegen, Claire; Waters, Brenda L.; Anker, Christopher J.

    2015-01-01

    Radiation therapy (RT) is the standard of care for cases of superior vena cava (SVC) syndrome secondary to metastatic adenopathy. Histologies vary in radiosensitivity and response time, making alternative therapies such as chemotherapy and/or intravenous stenting preferable alternative options for certain diagnoses. Metastatic urothelial carcinoma is a particularly rare cause of SVC syndrome with only 3 cases reported in the literature. Consequently, optimal management remains challenging, particularly in cases of high tumor burden. Here we present a case of highly advanced metastatic urothelial cancer with SVC syndrome and tracheal compression. The patient started urgent RT but expired midway through her treatment course due to systemic progression of disease, requiring SVC and tracheal stenting. The authors review the literature including discussion of the few other known cases of SVC syndrome due to urothelial carcinoma and a review of this histology's response to RT. This experience suggests, that in cases of SVC syndrome with widespread advanced disease, stenting and chemotherapy with or without RT may be the most important initial treatment plan, depending on goals of care. PMID:26634162

  1. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

    PubMed Central

    Niehues, R; Hasilik, M; Alton, G; Körner, C; Schiebe-Sukumar, M; Koch, H G; Zimmer, K P; Wu, R; Harms, E; Reiter, K; von Figura, K; Freeze, H H; Harms, H K; Marquardt, T

    1998-01-01

    Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib. PMID:9525984

  2. Complement therapy in atypical haemolytic uraemic syndrome (aHUS)

    PubMed Central

    Wong, Edwin K.S.; Goodship, Tim H.J.; Kavanagh, David

    2013-01-01

    Central to the pathogenesis of atypical haemolytic uraemic syndrome (aHUS) is over-activation of the alternative pathway of complement. Inherited defects in complement genes and autoantibodies against complement regulatory proteins have been described. The use of plasma exchange to replace non-functioning complement regulators and hyper-functional complement components in addition to the removal of CFH-autoantibodies made this the ‘gold-standard’ for management of aHUS. In the last 4 years the introduction of the complement inhibitor Eculizumab has revolutionised the management of aHUS. In this review we shall discuss the available literature on treatment strategies to date. PMID:23810412

  3. Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients.

    PubMed

    Join-Lambert, Olivier; Duchatelet, Sabine; Delage, Maïa; Miskinyte, Snaigune; Coignard, Hélène; Lemarchand, Nicolas; Alemy-Carreau, Murielle; Lortholary, Olivier; Nassif, Xavier; Hovnanian, Alain; Nassif, Aude

    2015-11-01

    Pyoderma gangrenosum, severe acne, and suppurative hidradenitis (PASH) syndrome can prove refractory to treatment and is characterized by relapses and recurrences. The combination of antibiotic therapy and surgery can produce success in the management of the syndrome. Acute treatment is required, but maintenance therapy is also necessary to prevent disease relapse. The response to antibiotic therapy is hypothesis generating, raising the issue of a modified host response. To date, anecdotal reports support the use of surgery and medical therapy, but controlled investigations with extended follow-up are necessary to substantiate preliminary data observed with individual cases. PMID:26470620

  4. Anti-interleukin 6 receptor therapy for hyper-IgD syndrome.

    PubMed

    Musters, Anne; Tak, Paul Peter; Baeten, Dominique L P; Tas, Sander W

    2015-01-01

    Hyper-IgD syndrome (HIDS) is a rare, severe hereditary autoinflammatory disease characterised by periodic fevers, elevated serum IgD levels and a wide range of symptoms. Although a few randomised controlled trials have been performed in this disorder, there are no straightforward treatment protocols and none of the potential therapies are registered for this indication. We report a case of a young woman with severe HIDS who failed numerous therapies. Eventually, rational treatment with a monoclonal anti-interleukin 6 receptor antibody was initiated. This therapy resulted in an impressive clinical improvement and reduction in the number of hospital admissions per year. This case report underlines the difficulty of finding a suitable treatment for rare, severe inflammatory diseases. Furthermore, we show that treating patients with targeted therapies may result in clinical benefit for the patient, as well as simultaneously teach us more about the pathophysiology of these rare, relatively understudied diseases. PMID:26516243

  5. Iron overload and chelation therapy in myelodysplastic syndromes.

    PubMed

    Temraz, Sally; Santini, Valeria; Musallam, Khaled; Taher, Ali

    2014-07-01

    Iron overload remains a concern in MDS patients especially those requiring recurrent blood transfusions. The consequence of iron overload may be more relevant in patients with low and intermediate-1 risk MDS who may survive long enough to experience such manifestations. It is a matter of debate whether this overload has time to yield organ damage, but it is quite evident that cellular damage and DNA genotoxic effect are induced. Iron overload may play a critical role in exacerbating pre-existing morbidity or even unmask silent ones. Under these circumstances, iron chelation therapy could play an integral role in the management of these patients. This review entails an in depth analysis of iron overload in MDS patients; its pathophysiology, effect on survival, associated risks and diagnostic options. It also discusses management options in relation to chelation therapy used in MDS patients and the impact it has on survival, hematologic response and organ function. PMID:24529413

  6. Fibromyalgic syndromes: could growth hormone therapy be beneficial?

    PubMed

    Cuatrecasas, Guillem

    2009-06-01

    Fibromyalgia is a chronic, idiopathic condition in which patients experience pain, asthenia and fatigue. The pathogenesis of the condition is unknown, and numerous mechanisms have been postulated, including neural hypersensitivity and autoimmunity. Symptoms of fibromyalgia are broadly similar to those of growth hormone deficiency (GHD), and there is evidence of decreased GH secretion and functional GHD in a subset of patients with fibromyalgia. Use of GH therapy in this patient population therefore represents a rational treatment strategy. Preliminary placebo-controlled trials have shown that GH therapy can significantly improve signs and symptoms of fibromyalgia and quality of life in patients receiving the current standard of care. Despite the use of relatively high doses of GH in these patients, treatment is well tolerated. Several mechanisms of action for GH in fibromyalgia have been suggested, including both central and peripheral effects. PMID:19550388

  7. A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines: Successful Rituximab and Tizanidine Therapy.

    PubMed

    Zdziarski, Przemyslaw

    2015-06-01

    Stiff person syndrome (SPS) is a rare autoimmune disease. Most patients have high-titer antibodies against glutamate decarboxylase (GADAb), which is without practical value in disease monitoring. Benzodiazepines are the first line drugs, but long-term use is not well characterized. This report demonstrates ineffective benzodiazepine therapy of SPS that prompts tachyphylaxis, loss of responsiveness, and finally benzodiazepine withdrawal syndrome. Convulsion and anxiety correlate with high level of creatine phosphokinase (CK). Although tonus and spasm attacks were successfully controlled by tizanidine, glutamate release inhibitor, the immune response, and autoimmune diabetes development require the plasmapheresis, mycophenolat mofetil, and rituximab therapy that results in a significant decrease of GADAb, impaired glucose tolerance (IGT), lactate dehydrogenase (LDH), and CK normalization. Unfortunately, reintroduction of benzodiazepine was a source of rapid and high increase of CK, LDH, GADAb titer (up to 1:15,000), IGT, and SPS relapse. Contrary to previous publications, we observed IGT that correlated with high anti-GAD level, but without high immunogenetic susceptibility to haplotype human leukocyte antigens-DR3, DQw2. This preliminary observation and the last finding of immunomodulatory properties of peripheral benzodiazepine receptor suggest that increased antigenic stimulation during benzodiazepine therapy and glutamatergic hyperactivity could account for convulsions observed in SPS. Benzodiazepine withdrawal prompted alternative muscle relaxant therapy (tizanidine). Muscular and brain abnormalities observed in SPS indicate that noncardiac CK level may be a useful tool in SPS therapy monitoring. PMID:26061327

  8. Emerging Pharmacologic Therapies for Constipation-predominant Irritable Bowel Syndrome and Chronic Constipation

    PubMed Central

    Eswaran, Shanti; Guentner, Amanda; Chey, William D

    2014-01-01

    Irritable bowel syndrome with constipation and chronic functional constipation are common digestive disorders that negatively impact quality of life and account for billions of dollars in health care costs. Related to the heterogeneity of pathogenesis that underlie these disorders and the failure of symptoms to reliably predict underlying pathophysiology, traditional therapies provide relief to only a subset of affected individuals. The evidence surrounding new and emerging pharmacologic treatments, which include both luminally and systemically acting drugs, is discussed here. These include agents such as lubiprostone, bile acid modulations, guanylate cyclase-C receptor agonists, serotonin receptor modulators and herbal therapies. PMID:24840367

  9. The application and efficacy of combined neurofeedback therapy and imagery training in adolescents with Tourette syndrome.

    PubMed

    Zhuo, Chuanjun; Li, Li

    2014-07-01

    We aimed to examine the effectiveness of combined neurofeedback therapy and imagery training in adolescent patients with refractory Tourette syndrome. Two patients, aged respectively 14 and 16 years, had been treated with haloperidol and tiapride; however, this medication was ineffective and accompanied by intolerable side effects. In this study, the patients completed 80 sessions of neurofeedback treatment followed by imagery training. The patients were assessed with behavior rating scales both before and after the treatment as well as during follow-up examinations to evaluate the effect of the combined therapy. Patients showed significant improvement in motor tic and vocal tic symptoms, exemplified by a reduction in the frequency and intensity of tics, indicating that neurofeedback, together with imagery training, has a positive therapeutic effect on adolescent patients with medication-refractory Tourette syndrome. PMID:23481449

  10. Development of antiviral therapy for severe acute respiratory syndrome.

    PubMed

    Cinatl, Jindrich; Michaelis, Martin; Hoever, Gerold; Preiser, Wolfgang; Doerr, Hans Wilhelm

    2005-06-01

    A new disease, the severe acute respiratory distress syndrome (SARS), caused by the SARS coronavirus (SARS-CoV), emerged at the beginning of 2003 and rapidly spread throughout the world. Although the disease had disappeared in June 2003 its re-emergence cannot be excluded. The development of vaccines against SARS-CoV may take years. Therefore, the availability of effective antiviral drugs against SARS-CoV may be crucial for the control of future SARS outbreaks. In this review, experimental and clinical data about potential anti-SARS drugs is summarised and discussed. Animal model studies will be needed to help to determine which interventions warrant controlled clinical testing. PMID:15878786

  11. Le naevus bleu cellulaire atypique du poignet: à propos d'un cas et revue de la literature

    PubMed Central

    Boussakri, Hassan; Roux, Jean Luc; Durand, Luc; Elibrahimi, Abdelhalim; Elmrini, Abdelmajid

    2014-01-01

    Le naevus bleu cellulaire atypique est une entité pathologique rare et sa localisation au niveau du poignet est exceptionnelle. Il est Considéré comme une Variante à des caractéristiques intermédiaires entre le naevus bleu cellulaire typique et le naevus bleu malin, dont l’évolution est incertaine. Le but de notre travail est d'attirer l'attention sur cette variété lésionnelle rare et de discuter les diagnostiques différentiels, ainsi que décrire les aspects histologique et les options thérapeutiques possibles. PMID:25426206

  12. Use of complementary therapies by women attending a specialist premenstrual syndrome clinic.

    PubMed

    Domoney, C L; Vashisht, A; Studd, J W W

    2003-02-01

    In this study, we investigate the use of complementary therapies by women attending a specialist premenstrual syndrome (PMS) clinic in the UK. Data was collected via an anonymous questionnaire survey of 100 women attending the clinic. Results showed 91% of women had used at least one form of complementary therapy for the management of their premenstrual symptomatology although only 35% were current users. Over half (53%) felt that these therapies had been of some benefit. Prescribed medication for PMS was being used by 71% of women at the time of the questionnaire and 83% of these women were satisfied with the perceived success of conventional therapy. In conclusion, the vast majority of women attending a specialist PMS clinic in the UK have used complementary therapies to treat this chronic debilitating condition but few continue use long-term. Treatment may be instigated by the woman with advice from her informal support network and/or her physicians. However as use is so prevalent, but with few randomized controlled trials conducted to show their benefits or risks, it is important to improve awareness of these therapies, both in qualitative and quantitative terms. Satisfaction with prescribed medications did not appear to be influenced by complementary therapy use in this group of women. PMID:12724014

  13. [Analysis of adverse factors affecting the result of therapy for West syndrome in children].

    PubMed

    Micha?owicz, R; Ignatowicz, R; Kmie?, T; Kuczy?ski, D

    West syndrome is a from of epileptic attacks of infants. Diagnosis of West syndrome includes: presence of the sudden violent flexion of the trunk and limbs, psychomotoric development retardation, especially after the onset of attacks, abnormal EEG records, and therapeutical problems. Clinical course and results of therapy were analysed in 66 children with West syndrome (39 boys and 27 girls). Children were divided into four groups, depending on etiology of the disease. Group 1 included 39 children with lesions to CNS during pregnancy; group 2-8 children with developmental CNS disorders, group 3-6 children with a history of encephalitis or meningitis, and group 4-13 children in whom etiology of West syndrome was unclear. Patients were treated with Synacthen-Depot in a daily dose of 0.03 mg/kg combined with other anti-epileptic agents. The most difficult to treat were those children in whom West syndrome occurred below 6 months of life, were psychomotor retarded before the onset of symptoms, hormonal treatment was introduced with delay, there were additional seizures of different etiology, and there were frequently recurrent infections. PMID:8029150

  14. Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome

    PubMed Central

    Huber, C.E; Judex, A.G; Freyschmidt, J; Feuerbach, S; Schölmerich, J; Müller-Ladner, U

    2009-01-01

    The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a matter of discussion. For example it does not appear to represent reactive arthritis and HLA B27 antigen, with the latter being typically present in patients with spondyloarthopathies. Treatment of SAPHO syndrome is also not well established and consists of various antiinflammatory and antirheumatic drugs. Here, we report a female patient with active SAPHO syndrome suffering from sternal swelling of unknown origin that had been known for 10 years and a 4-year-history of severe lower back pain. Remarkable were also a typical pustulous palmar erythema associated with swelling and decreased motility of both MCP-I joints. Inflammation parameters were high with an ESR 68 mm/1st hour and a CRP of 19.6 mg/l. She was initially treated with rofecoxib and doxycycline, followed by sulfasalazine with only partial clinical response. Thereafter, both articular symptoms as well as cutaneous lesions responded well to a combination therapy with methotrexate and sulfasalazine. Thus, the case illustrates nicely that methotrexate in combination with another DMARD can be successfully applied to patients with long-term active SAPHO syndrome. PMID:19471601

  15. Antiplatelet therapy in acute coronary syndromes: focus on ticagrelor

    PubMed Central

    Birkeland, Kade; Parra, David; Rosenstein, Robert

    2010-01-01

    The use of antiplatelet agents, specifically the thienopyridines, has become a standard of care in the approach to the patient presenting with an acute coronary syndrome. These drugs irreversibly inhibit the platelet by permanently binding to the surface P2Y12 receptor and blocking the downstream fibrinogen cross-linking between platelets, which leads to aggregation and thrombus. However, currently available therapeutic choices are limited by potential interaction with other medications, slow hepatic conversion to active metabolite, genetic resistance, and narrow therapeutic safety margin. In order to overcome these disadvantages, there has been an interest in developing alternatives to thienopyridines. Recent investigations have included ticagrelor, a reversible inhibitor of the P2Y12 platelet receptor, which appears to have overcome several drawbacks of the current thienopyridines. Its unique pharmacokinetic and pharmacodynamic profiles result in an inhibition of platelet aggregation that is rapid, high, consistent, and less susceptible to interpatient variability than currently available P2Y12 inhibitors. In addition, ticagrelor offers a potential mortality advantage not apparent with current agents. Although questions regarding the nature, magnitude, and clinical significance of several observed adverse effects (dyspnea and ventricular pauses) remain unanswered, it appears that ticagrelor may represent a significant advancement over currently available oral antiplatelet agents. PMID:22282698

  16. Inositol: history of an effective therapy for Polycystic Ovary Syndrome.

    PubMed

    Bizzarri, M; Carlomagno, G

    2014-07-01

    Inositol is a physiological compound belonging to the sugar family. The two inositol stereoisomers, myo-inositol and D-chiroinositol are the two main stereisomers present in our body. Myo-inositol is the precursor of inositol triphosphate, a second messenger regulating many hormones such as TSH, FSH and insulin. D-chiroinositol is synthetized by an insulin dependent epimerase that converts myo-inositol into D-chiro-inositol. Polycistic Ovary Syndrome (PCOS) is a metabolic and hormonal disorder and a common cause of infertility. Insulin resistance and the consequent hyperinsulinaemia contribute to hyperandrogenism development, typical marker of PCOS. In these patients myo and/or D-chiro-inositol administration improves insulin sensivity while only myo-inositol is a quality marker for oocytes evaluation. Myo-inositol produces second messengers for FSH and glucose uptake, while D-chiroinositol provides second messengers promoting glucose uptake and glycogen synthesis. The physiological ratio of these two isomers is 40:1 (MI/DCI) and seems to be an optimal approach for the treatment of PCOS disorders. PMID:25010620

  17. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders

    PubMed Central

    2014-01-01

    Background Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial transcription factors a class of engineered DNA-binding proteins that have the potential to target a specific site in the genome. Results Here we review the recent progress and prospect of targeted gene expression therapies. Three main issues that must be addressed to advance toward human clinical trials are specificity, toxicity, and delivery. Conclusions Artificial transcription factors have the potential to address these concerns on a level that meets and in some cases exceeds current small molecule therapies. We examine the possibilities of such approaches in the context of Angelman syndrome, as a template for other single-gene, neurologic disorders. PMID:24946931

  18. Successful treatment of macrophage activation syndrome in a patient with dermatomyositis by combination with immunosuppressive therapy and plasmapheresis.

    PubMed

    Kaieda, Shinjiro; Yoshida, Naomi; Yamashita, Fumiya; Okamoto, Masaki; Ida, Hiroaki; Hoshino, Tomoaki; Fukuda, Takaaki

    2015-11-01

    Macrophage activation syndrome (MAS), also known as secondary hemophagocytic lymphohistiocytosis, is mediated by cytokine overproduction from excessive activation of T lymphocytes and macrophages. We present a dermatomyositis patient with MAS, caused by hypercytokinemia. The combination of tacrolimus and plasma exchange therapy was effective in this case for treating MAS. This combination therapy is especially useful for MAS refractory to steroids. PMID:24252010

  19. Cerebral blood flow and cognitive function in patients with metabolic syndrome: effect of antihypertensive therapy.

    PubMed

    Efimova, Irina; Efimova, Natalya; Lishmanov, Yuri

    2014-12-01

    The aim of the study was to estimate regional cerebral blood flow (rCBF) and cognitive function in patients with metabolic syndrome (MetS) before and after antihypertensive combination therapy. The study included 24 patients with MetS (average age 52.4±1.6 years). All patients underwent brain single-photon emission computed tomography with technetium-99m hexamethylpropyleneamine oxime and comprehensive neuropsychological testing before and after 6-month antihypertensive combination therapy. All patients with MetS showed lower rCBF values in all regions of the brain compared with the control group. Their parameters of attention, immediate visual memory, and mentation were lower by 25%, 22%, and 13% compared with the control group, respectively. Six-month antihypertensive combination therapy increased cerebral perfusion and improved attention, mentation, and visual memory in MetS patients. PMID:25382682

  20. Pharmacologic and Complementary and Alternative Medicine Therapies for Irritable Bowel Syndrome

    PubMed Central

    Maneerattaporn, Monthira; Saad, Richard

    2011-01-01

    Irritable bowel syndrome (IBS) is a chronic functional gastrointestinal disorder characterized by episodic abdominal pain or discomfort in association with altered bowel habits (diarrhea and/or constipation). Other gastrointestinal symptoms, such as bloating and flatulence, are also common. A variety of factors are believed to play a role in the development of IBS symptoms, including altered bowel motility, visceral hypersensitivity, psychosocial stressors, altered brain-gut interactions, immune activation/low grade inflammation, alterations in the gut microbiome, and genetic factors. In the absence of biomarkers that can distinguish between IBS subgroups on the basis of pathophysiology, treatment of this condition is predicated upon a patient's most bothersome symptoms. In clinical trials, effective therapies have only offered a therapeutic gain over placebos of 7-15%. Evidence based therapies for the global symptoms of constipation predominant IBS (IBS-C) include lubiprostone and tegaserod; evidence based therapies for the global symptoms of diarrhea predominant IBS (IBS-D) include the probiotic Bifidobacter infantis, the nonabsorbable antibiotic rifaximin, and alosetron. Additionally, there is persuasive evidence to suggest that selected antispasmodics and antidepressants are of benefit for the treatment of abdominal pain in IBS patients. Finally, several emerging therapies with novel mechanisms of action are in development. Complementary and alternative medicine therapies including probiotics, herbal therapies and acupuncture are gaining popularity among IBS sufferers, although concerns regarding manufacturing standards and the paucity of high quality efficacy and safety data remain. PMID:21927652

  1. Managing Sjögren’s Syndrome and non-Sjögren Syndrome dry eye with anti-inflammatory therapy

    PubMed Central

    Coursey, Terry G; de Paiva, Cintia S

    2014-01-01

    Dry eye from Sjögren’s syndrome is a multifactorial disease that results in dysfunction of the lacrimal functional unit. Studies have shown changes in tear composition, including inflammatory cytokines, chemokines, and metalloproteinase. T-lymphocytes have been shown to increase in the conjunctiva and lacrimal glands in patient and animal models. This inflammation is in part responsible for the pathogenesis of the disease, which results in symptoms of eye irritation, ocular surface epithelial disease, and loss of corneal barrier function. There are a number of anti-inflammatory approaches for treating this disease. The current study reviews details of immune response and anti–inflammatory therapies used to control this disease. PMID:25120351

  2. Do Not Forget Nephrotic Syndrome as a Cause of Increased Requirement of Levothyroxine Replacement Therapy.

    PubMed

    Benvenga, Salvatore; Vita, Roberto; Di Bari, Flavia; Fallahi, Poupak; Antonelli, Alessandro

    2015-06-01

    Nephrotic syndrome increases L-thyroxine requirements because of urinary loss of free and protein-bound thyroid hormones. We report 2 hypothyroid patients referred to us because of high serum TSH, even though the L-thyroxine daily dose was maintained at appropriate levels or was increased. The cause of nephrotic syndrome was multiple myeloma in one patient and diabetic glomerulosclerosis in the other patient. As part of the periodic controls for diabetes, urinalysis was requested only in the second patient so that proteinuria could be detected. However, as in the first patient, facial puffiness and body weight increase were initially attributed to hypothyroidism, which was poorly compensated by L-thyroxine therapy. In the first patient, the pitting nature of the pedal edema was missed at the initial examination. An endocrinologist consulted over the phone by the practitioner hypothesized some causes of intestinal malabsorption of L-thyroxine. This diagnosis would have been accepted had the patient continued taking a known sequestrant of L-thyroxine, i.e. calcium carbonate. The diagnostic workup of patients with increasing requirements of L-thyroxine replacement therapy should not be concentrated on the digestive system alone. Careful history taking and physical examination need to be thorough. Endocrinologists should not forget nephrotic syndrome that, in turn, can be secondary to serious diseases. PMID:26280000

  3. Angelman Syndrome

    MedlinePLUS

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... Is there any treatment? There is no specific therapy for Angelman syndrome. Medical therapy for seizures is ...

  4. [Reversible cerebral vasoconstriction syndrome. Challenge for diagnostics and intensive care therapy].

    PubMed

    Jansen, G; Mertzlufft, F; Bach, F

    2015-08-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a disease of unclear incidence frequently affecting middle aged women and is usually associated with use of adrenergic or serotoninergic substances. The exclusion of relevant differential diagnoses, such as aneurysmal subarachnoid hemorrhage, primary cerebral angiitis, posterior reversible encephalopathy syndrome and carotid artery dissection is critical in terms of time and significance. Thunderclap headache as well as multiple and multilocular vasospasms with direct or indirect angiography without substantial findings in cerebrospinal fluid diagnostics are typical symptoms. The necessity for intensive care treatment is often justified by initial acute impairment of vital functions and possible development of cerebral or extracerebral complications. Because the exact pathophysiology remains unknown, a specific therapy does not exist. This poses significant challenges in intensive care medicine, which are illustrated on the basis of the case study presented. PMID:26194650

  5. Analysis of Factors Associated With Radiation-Induced Bronchiolitis Obliterans Organizing Pneumonia Syndrome After Breast-Conserving Therapy

    SciTech Connect

    Katayama, Norihisa Sato, Shuhei; Katsui, Kuniaki; Takemoto, Mitsuhiro; Tsuda, Toshihide; Yoshida, Atsushi; Morito, Tsuneharu; Nakagawa, Tomio; Mizuta, Akifumi; Waki, Takahiro; Niiya, Harutaka; Kanazawa, Susumu

    2009-03-15

    Purpose: To evaluate factors associated with radiation-induced bronchiolitis obliterans organizing pneumonia (BOOP) syndrome after breast-conserving therapy. Methods and Materials: A total of 702 women with breast cancer who received radiotherapy after breast-conserving surgery at seven institutions between July 1995 and December 2006 were analyzed. In all patients, the whole breast was irradiated with two tangential photon beams. The criteria used for the diagnosis of radiation-induced BOOP syndrome were as follows: (1) radiotherapy to the breast within 12 months, (2) general and/or respiratory symptoms lasting for {>=}2 weeks, (3) radiographs showing lung infiltration outside the radiation port, and (4) no evidence of a specific cause. Results: Radiation-induced BOOP syndrome was seen in 16 patients (2.3%). Eleven patients (68.8%) were administered steroids. The duration of steroid administration ranged from 1 week to 3.7 years (median, 1.1 years). Multivariate analysis revealed that age ({>=}50 years; odds ratio [OR] 8.88; 95% confidence interval [CI] 1.16-67.76; p = 0.04) and concurrent endocrine therapy (OR 3.05; 95% CI 1.09-8.54; p = 0.03) were significantly associated with BOOP syndrome. Of the 161 patients whose age was {>=}50 years and who received concurrent endocrine therapy, 10 (6.2%) developed BOOP syndrome. Conclusions: Age ({>=}50 years) and concurrent endocrine therapy can promote the development of radiation-induced BOOP syndrome after breast-conserving therapy. Physicians should carefully follow patients who received breast-conserving therapy, especially those who are older than 50 years and received concurrent endocrine therapy during radiotherapy.

  6. [Diagnosis and therapy of cubital tunnel syndrome--state of the art].

    PubMed

    Assmus, H; Antoniadis, G; Bischoff, C; Hoffmann, R; Martini, A K; Preissler, P; Scheglmann, K; Schwerdtfeger, K; Wessels, K D; Wüstner-Hofmann, M

    2009-02-01

    The cubital tunnel syndrome is one of the most widespread compression syndromes of a peripheral nerve. In German-speaking countries it is known as the sulcus ulnaris syndrome (retrocondylar groove syndrome), which is anatomically incorrect. The cubital tunnel consists of the retrocondylar groove, the cubital tunnel retinaculum (Lig. arcuatum or Osborne band), the humeroulnar arcade and the deep flexor/pronator aponeurosis. According to Sunderland it can be divided into a primary form (including the ulnar luxation and the epitrocheoanconaeus muscle) and a secondary form caused by deformation or other processes of the elbow joint. The diagnosis has to be confirmed by a thorough clinical examination and nerve conduction studies. Neurosonography and MRI are becoming more and more important with improving resolution and enable the direct identification of morphological changes. Differential diagnosis is essential in atypical cases, especially C8 syndrome and pressure palsy. Double crush (double compression syndrome) may occur. Operative treatment is more effective than conservative treatment, which consists primarily of the prevention of exposure to external noxes. According to actual randomised controlled studies the therapy of choice of the primary form in most cases is the simple in situ decompression of the ulnar nerve in the cubital tunnel. This has to be extended at least up to 5-6 cm distally of the medial epicondyle and can be performed in the open or endoscopic technique, both under local anesthesia. Simple decompression is also the therapy of choice in uncomplicated ulnar luxation and in most post-traumatic cases and other secondary forms. In cases of severe bony or tissue changes of the elbow (especially cubitus valgus) the volar transposition of the ulnar nerve may be indicated. This can be performed in a subcutaneous or submuscular technique. Risks of transposition are impairment of perfusion and, above all, kinking caused by insufficient proximal or distal mobilisation of the nerve has to be avoided. In these cases revision surgery is necessary. The epicondylectomy is not common in our country. Recurrences may occur. PMID:19224415

  7. Treating metabolic syndrome's metaflammation with low level light therapy: preliminary results

    NASA Astrophysics Data System (ADS)

    Yoshimura, Tania M.; Kato, Ilka T.; Deana, Alessandro M.; Ribeiro, Martha S.

    2014-02-01

    Metabolic syndrome comprises a constellation of morbidities such as insulin resistance, hyperinsulinemia, atherogenic dyslipidemia, dysglycemia and obesity (especially abdominal). Metabolic alterations are observed in major insulin target organs, increasing the risk of cardiovascular diseases, type-2 diabetes and therefore mortality. Tissue alterations are characterized by immune cells infiltrates (especially activated macrophages). Released inflammatory mediators such as TNF-? induce chronic inflammation in subjects with metabolic syndrome, since inflammatory pathways are activated in the neighboring cells. The intra-abdominal adipose tissue appears to be of particular importance in the onset of the inflammatory state, and strategies contributing to modulate the inflammatory process within this adipose tissue can mitigate the metabolic syndrome consequences. Considering the low level light therapy (LLLT) recognized benefits in inflammatory conditions, we hypothesized this therapeutic approach could promote positive effects in modulating the inflammatory state of metabolic syndrome. That being the scope of this study, male C57BL/6 mice were submitted to a high-fat/high-fructose diet among 8 weeks to induce metabolic syndrome. Animals were then irradiated on the abdominal region during 21 days using an 850 nm LED (6 sessions, 300 seconds per session, 60 mW output power, ~6 J/cm2 fluence, ~19 mW/cm2 fluence rate). Before and during treatment, blood was sampled either from the retroorbital plexus or from tail puncture for glucose, total cholesterol and triglycerides analysis. So far our results indicate no alterations on these metabolic parameters after LLLT. For further investigations, blood was collected for plasma inflammatory cytokine quantification and fresh ex vivo samples of liver and intra-abdominal adipose tissue were harvested for immunohistochemistry purposes.

  8. Iatrogenic Cushing's syndrome and topical steroid therapy: case series and review of the literature.

    PubMed

    Decani, Sem; Federighi, Veronica; Baruzzi, Elisa; Sardella, Andrea; Lodi, Giovanni

    2014-12-01

    Topical corticosteroids are considered first-line therapy in patients with chronic inflammatory oral mucosal diseases; among them, clobetasol propionate is one of the most widely used in oral medicine. Under physiological conditions, the transmucosal application is characterized by a significantly greater absorption than the skin application. Contrary to many publications about the side effects of topical corticosteroids in dermatology, few studies have investigated the systemic effects due to local application of these drugs on oral mucosa. Although topical steroid therapy for the management of oral diseases is generally associated with local adverse effects (candidiasis, stomatopyrosis, and hypogeusia), these drugs can also lead to systemic side effects, such as suppression of the hypothalamic-pituitary-adrenal axis and Cushing's syndrome. This review reports five cases of systemic adverse effects caused by clobetasol propionate topical treatment. PMID:23210698

  9. Case Report: The Effects of Massage Therapy on a Woman with Thoracic Outlet Syndrome

    PubMed Central

    Wakefield, Mary Lillias

    2014-01-01

    Introduction Thoracic outlet syndrome (TOS) refers to a group of conditions resulting from compression of the neurovascular structures of the thoracic outlet. The parameters for physical therapy include myofascial release (MFR), neuromuscular therapy (NMT), muscle strengthening, and stretching. This case study examined the effects of neuromuscular therapy, massage, and other manual therapies on a 56-year-old female presenting with bilateral numbness over the forearms and hands on waking. Numbness occurred most days, progressing to “dead rubbery” forearms and hands once or twice a month. Methods The treatment plan was implemented over eight weeks and consisted of six, 50-minute bodywork sessions. Several nonbodywork strategies were also employed to address potential contributing factors to the TOS symptomology experienced by the client. Objective measurements included posture analysis (PA), range of movement (ROM), and Roos and Adson’s tests. The Measure Your Own Medical Outcome Profile (MYMOP2), a client-generated measure of clinical outcome, was used to measure clinical change. Results MYMOP2 overall profile score results demonstrated an improvement of 2.25 from pretreatment to post-treatment measurement. Clinically meaningful change was measured by the individual and was indicative of substantial symptom improvement where a score change of over one was considered as meaningful. Conclusions A course of massage was effective for numbness symptoms in an individual with TOS, and results lasted over a year without additional treatments. Further research is needed to fully understand the effects of massage for TOS symptoms. PMID:25452819

  10. A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

    PubMed Central

    Demir, Nihat; Peker, Erdal; Ece, ?brahim; Kaba, Sultan; A?engin, Kemal; Tuncer, O?uz

    2015-01-01

    Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil. PMID:26078906

  11. Low-dose gonadotrophin therapy for induction of ovulation in 100 women with polycystic ovary syndrome.

    PubMed

    Hamilton-Fairley, D; Kiddy, D; Watson, H; Sagle, M; Franks, S

    1991-09-01

    Women with anovulation due to polycystic ovary syndrome are likely to develop multiple follicles during gonadotrophin therapy and therefore have a high risk of multiple pregnancy. We have developed a low-dose regimen for use in these women; 100 women with clomiphene-resistant polycystic ovary syndrome were treated. Ninety-five of the women ovulated at least once, 72% of the 401 cycles induced were ovulatory and the majority (73%) of these were uni-ovulatory. The overall cumulative conception rate was 55% at 6 months with only two multiple pregnancies. The rate of early pregnancy loss was 32%, which is similar to that reported by other groups. The prevalence of complications was low with no cases of severe hyperstimulation and less than 5% of cycles were abandoned because of development of multiple follicles. Analysis of baseline and mid-follicular luteinizing hormone levels showed that a raised baseline and/or mid-follicular luteinizing hormone level was associated with a poor response to treatment, i.e. anovulation, ovulation but no conception, or early pregnancy loss. There were no successful pregnancies in the women whose luteinizing hormone levels were persistently raised during ovulatory cycles. Low-dose gonadotrophin therapy is a safe and effective method of inducing ovulation; it is associated with a high incidence of single follicular development and a very low multiple pregnancy rate. PMID:1806568

  12. Development of cognitive-behavioral therapy intervention for patients with Dhat syndrome.

    PubMed

    Salam, K P Abdul; Sharma, Mahendra P; Prakash, Om

    2012-10-01

    Dhat syndrome is a culture-bound syndrome prevalent in the natives of the Indian subcontinent characterized by excessive concern about harmful consequences of loss of semen (ICD-10). Treatment offered to the patients suffering from it continues to be esoteric, unstructured and without standardization. The present study aimed to develop and examine the feasibility of Cognitive - Behavior Therapy module for patients with Dhat syndrome. A draft module was developed based on existing theoretical knowledge and suggestions from five mental health professionals. This module was then applied on five patients with Dhat syndrome to assess and judge the suitability of the module. The pre and post-assessments were carried out using Sexual Knowledge and Attitude Questionnaire - II, Hamilton Depression Rating Scale, The Cognitive-Somatic Anxiety Scale, Screener for Somatoform Disorder, International Index for Erectile Function, Clinical Global Impressions, The World Health Organization Quality of Life Assessment - BREF. Experiences and insights gained from each patient were used to refine the module before applying on the next patient. The final module consisted of the following components was developed: Basic sex education, cognitive restructuring, relaxation training, imaginal desensitization, masturbatory training as homework and Kegel's exercises and 'start-stop technique' and 'squeeze technique' for sexual dysfunctions. Results of the study reveal that it is feasible to carry out the CBT module in clinical settings. Number of sessions ranged from 11 to 16 sessions. The duration of the session was 45 minutes on the average. Findings of the present study revealed improvement in sexual knowledge, anxiety, depressive and somatic symptoms. Implications and limitations of the study are highlighted and suggestions for future research offered. PMID:23372242

  13. Immuno-therapy of Acute Radiation Syndromes : Extracorporeal Immuno-Lympho-Plasmo-Sorption.

    NASA Astrophysics Data System (ADS)

    Popov, Dmitri; Maliev, Slava

    Methods Results Summary and conclusions Introduction: Existing Medical Management of the Acute Radiation Syndromes (ARS) does not include methods of specific immunotherapy and active detoxication. Though the Acute Radiation Syndromes were defined as an acute toxic poisonous with development of pathological processes: Systemic Inflammatory Response Syndrome (SIRS), Toxic Multiple Organ Injury (TMOI), Toxic Multiple Organ Dysfunction Syndrome(TMODS), Toxic Multiple Organ Failure (TMOF). Radiation Toxins of SRD Group play an important role as the trigger mechanisms in development of the ARS clinical symptoms. Methods: Immuno-Lympho-Plasmo-Sorption is a type of Immuno-therapy which includes prin-ciples of immunochromato-graphy, plasmopheresis, and hemodialysis. Specific Antiradiation Antitoxic Antibodies are the active pharmacological agents of immunotherapy . Antiradia-tion Antitoxic Antibodies bind selectively to Radiation Neurotoxins, Cytotoxins, Hematotox-ins and neutralize their toxic activity. We have developed the highly sensitive method and system for extracorporeal-immune-lypmh-plasmo-sorption with antigen-specific IgG which is clinically important for treatment of the toxic and immunologic phases of the ARS. The method of extracorporeal-immune-lypmh-plasmo-sorption includes Antiradiation Antitoxic Antibodies (AAA) immobilized on microporous polymeric membranes with a pore size that is capable to provide diffusion of blood-lymph plasma. Plasma of blood or lymph of irradiated mammals contains Radiation Toxins (RT) that have toxic and antigenic properties. Radiation Toxins are Antigen-specific to Antitoxic blocking antibodies (Immunoglobulin G). Plasma diffuses through membranes with immobilized AAA and AA-antibodies bind to the polysaccharide chain of tox-ins molecules and complexes of AAA-RT that are captured on membrane surfaces. RT were removed from plasma. Re-transfusion of plasma of blood and lymph had been provided. We show a statistical significant reduction in postradiation lethality.

  14. Lentivirus-based Gene Therapy of Hematopoietic Stem Cells in Wiskott-Aldrich Syndrome

    PubMed Central

    Aiuti, Alessandro; Biasco, Luca; Scaramuzza, Samantha; Ferrua, Francesca; Cicalese, Maria Pia; Baricordi, Cristina; Dionisio, Francesca; Calabria, Andrea; Giannelli, Stefania; Castiello, Maria Carmina; Bosticardo, Marita; Evangelio, Costanza; Assanelli, Andrea; Casiraghi, Miriam; Di Nunzio, Sara; Callegaro, Luciano; Benati, Claudia; Rizzardi, Paolo; Pellin, Danilo; Di Serio, Clelia; Schmidt, Manfred; Von Kalle, Christof; Gardner, Jason; Mehta, Nalini; Neduva, Victor; Dow, David J.; Galy, Anne; Miniero, Roberto; Finocchi, Andrea; Metin, Ayse; Banerjee, Pinaki; Orange, Jordan; Galimberti, Stefania; Valsecchi, Maria Grazia; Biffi, Alessandra; Montini, Eugenio; Villa, Anna; Ciceri, Fabio; Roncarolo, Maria Grazia; Naldini, Luigi

    2015-01-01

    Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by mutations in the gene encoding WASP, a protein regulating the cytoskeleton. Hematopoietic stem/progenitor cell (HSPC) transplants can be curative but, when matched donors are unavailable, infusion of autologous HSPCs modified ex vivo by gene therapy is an alternative approach. We used a lentiviral vector encoding functional WASP to genetically correct HSPCs from three WAS patients and re-infused the cells after reduced-intensity conditioning regimen. All three patients showed stable engraftment of WASP-expressing cells and improvements in platelet counts, immune functions, and clinical score. Vector integration analyses revealed highly polyclonal and multi-lineage haematopoiesis resulting from the gene corrected HSPCs. Lentiviral gene therapy did not induce selection of integrations near oncogenes and no aberrant clonal expansion was observed after 20–32 months. Although extended clinical observation is required to establish long-term safety, lentiviral gene therapy represents a promising treatment for WAS. PMID:23845947

  15. Synergistic GABA-Enhancing Therapy against Seizures in a Mouse Model of Dravet Syndrome

    PubMed Central

    Oakley, John C.; Cho, Alvin R.; Cheah, Christine S.; Scheuer, Todd

    2013-01-01

    Seizures remain uncontrolled in 30% of patients with epilepsy, even with concurrent use of multiple drugs, and uncontrolled seizures result in increased morbidity and mortality. An extreme example is Dravet syndrome (DS), an infantile-onset severe epilepsy caused by heterozygous loss of function mutations in SCN1A, the gene encoding the brain type-I voltage-gated sodium channel NaV1.1. Studies in Scn1a heterozygous knockout mice demonstrate reduced excitability of GABAergic interneurons, suggesting that enhancement of GABA signaling may improve seizure control and comorbidities. We studied the efficacy of two GABA-enhancing drugs, clonazepam and tiagabine, alone and in combination, against thermally evoked myoclonic and generalized tonic-clonic seizures. Clonazepam, a positive allosteric modulator of GABA-A receptors, protected against myoclonic and generalized tonic-clonic seizures. Tiagabine, a presynaptic GABA reuptake inhibitor, was protective against generalized tonic-clonic seizures but only minimally protective against myoclonic seizures and enhanced myoclonic seizure susceptibility at high doses. Combined therapy with clonazepam and tiagabine was synergistic against generalized tonic-clonic seizures but was additive against myoclonic seizures. Toxicity determined by rotorod testing was additive for combination therapy. The synergistic actions of clonazepam and tiagabine gave enhanced seizure protection and reduced toxicity, suggesting that combination therapy may be well tolerated and effective for seizures in DS. PMID:23424217

  16. Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome

    PubMed Central

    Weber, David R.; Stanescu, Diana E.; Semple, Robert; Holland, Cheryl; Magge, Sheela N.

    2015-01-01

    Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance due to INSR mutation(s). Traditional subcutaneous therapy may be limited by the shortened IGF-1 half-life in these patients. We report the case of a female with molecularly confirmed DS treated with continuous rhIGF-1 therapy via an insulin pump. With treatment, the patient’s hemoglobin A1c decreased from 9.8% to 8.8%, and her weight increased by 0.8 kg. Development of an ovarian tumor complicated her course, but it was unclear whether this was related to rhIGF-1 therapy. Limited treatment options exist for patients with DS. The use of continuous rhIGF-1 via an insulin pump may be a viable option, although further experience is needed to establish safety and efficacy. PMID:25153212

  17. A Controlled Comparison of Cognitive Therapy and Self-Help Support Groups in the Treatment of Irritable Bowel Syndrome.

    ERIC Educational Resources Information Center

    Payne, Annette; Blanchard, Edward B.

    1995-01-01

    Patients with irritable bowel syndrome (n=34) were randomly assigned to 1 of 3 treatment conditions for 8 weeks: individualized cognitive treatment, support group, or control. Results indicated significantly greater reductions in gastrointestinal symptoms and amelioration of depression and anxiety for the cognitive therapy group, and these results…

  18. Decision-Making, Reward-Seeking Behaviors and Dopamine Agonist Therapy in Restless Legs Syndrome

    PubMed Central

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

    2013-01-01

    Study Objectives: To assess whether the frequency of impulse control disorders (ICDs), addictive behaviors, impulsivity, and impairment of decision-making task performance under ambiguous and risky conditions were present in patients with restless legs syndrome (RLS) and whether changes could be related to dopaminergic medications. Design: Case-control prospective study. Setting: Academic Sleep Disorders Center. Participants: Of the 149 participants, there were 39 who were drug free with primary RLS, 50 who were taking dopamine agonists (DA), and 60 control subjects. Participants were assessed with a clinical interview screening for ICDs, augmentation syndrome, impulsivity, depression, and addictive behaviors. All participants completed two decision-making tasks, one under an ambiguous condition (Iowa Gambling Task) and the other under a risky condition (Game of Dice Task). Drug-free patients with RLS underwent 1 night of polysomnography recording. Measurements and Results: Seventy percent of patients were treated with pramipexole (median dose, 0.36 mg), and 30% with ropinirole (median dose, 0.75 mg). Median duration of DA intake was 11 mo (range, 1-72 mo). No differences were found on impulsivity scores, ICDs, and substance addiction between drug-free patients or those taking DA, or control subjects. Patients with RLS reported more depressive symptoms than control subjects, but without differences between patients taking or not taking DA. Drug-free and treated patients demonstrated reduced performances on the Iowa Gambling Task but not on the Game of Dice Task compared to control subjects, with no differences between patients taking medications and those who were not. No association was found between decision-making task performances, or polysomnographic and clinical variables. Conclusion: Impulse control disorders, impulsivity, and substance addiction were infrequent in drug-free patients with restless legs syndrome or those treated with a low dose of dopamine agonists. However, patients with restless legs syndrome, either drug free or taking dopamine agonists, had preferences toward risky choices on the Iowa Gambling Task, which led to negative consequences in the long run, a condition potentially leading to further development of impulse control disorders. Citation: Bayard S; Langenier MC; Dauvilliers Y. Decision-making, reward-seeking behaviors and dopamine agonist therapy in restless legs syndrome. SLEEP 2013;36(10):1501-1507. PMID:24082309

  19. Potential future therapies for irritable bowel syndrome: will disease modifying therapy as opposed to symptomatic control become a reality?

    PubMed

    Spiller, Robin C

    2005-06-01

    Irritable bowel syndrome can remit spontaneously, implying cure is possible. Predictors of good prognosis include a short history, acute onset(possibly postinfective origin), absence of psychological disorders, and resolution of chronic life stressors. Possible-disease modifying treatments with long-lasting effects include diet and anti-inflammatory and psychological treatments. Dietary modifications, which often involve excluding dairy and wheat products, are successful in some patients. Anti-inflammatory treatments have been subjected to one RCT in postinfective IBS without benefit. Probiotics may have benefit in altering bacterial flora and as anti-inflammatory agents, but further trials are needed before they can be recommended. Psychological treatments may produce long-lasting responses. Relaxation therapy appears to have a nonspecific benefit. Psychotherapy has been shown to have long-term benefit and is particularly acceptable to, and effective for, those with overt psychological distress. Hypnotherapy has been shown to be effective in randomized placebo controlled trials and has a sustained effect. PMID:15862939

  20. Increased Atherothrombotic Burden in Patients with Diabetes Mellitus and Acute Coronary Syndrome: A Review of Antiplatelet Therapy

    PubMed Central

    Balasubramaniam, Karthik; Viswanathan, Girish N.; Marshall, Sally M.; Zaman, Azfar G.

    2012-01-01

    Patients with diabetes mellitus presenting with acute coronary syndrome have a higher risk of cardiovascular complications and recurrent ischemic events when compared to nondiabetic counterparts. Different mechanisms including endothelial dysfunction, platelet hyperactivity, and abnormalities in coagulation and fibrinolysis have been implicated for this increased atherothrombotic risk. Platelets play an important role in atherogenesis and its thrombotic complications in diabetic patients with acute coronary syndrome. Hence, potent platelet inhibition is of paramount importance in order to optimise outcomes of diabetic patients with acute coronary syndrome. The aim of this paper is to provide an overview of the increased thrombotic burden in diabetes and acute coronary syndrome, the underlying pathophysiology focussing on endothelial and platelet abnormalities, currently available antiplatelet therapies, their benefits and limitations in diabetic patients, and to describe potential future therapeutic strategies to overcome these limitations. PMID:22347666

  1. Amputation as an Unusual Treatment for Therapy-Resistant Complex Regional Pain Syndrome, Type 1

    PubMed Central

    Kashy, Babak K.; Abd-Elsayed, Alaa A.; Farag, Ehab; Yared, Maria; Vakili, Roya; Esa, Wael Ali Sakr

    2015-01-01

    Background Complex regional pain syndrome, type 1 (CRPS-1) causes severe pain that can be resistant to multiple treatment modalities. Amputation as a form of long-term treatment for therapy-resistant CRPS-1 is controversial. Case Report We report the case of a 38-year-old man who failed all treatment modalities for CRPS-1, including medication, steroid injections, and spinal cord stimulator implantation. Below-the-knee amputation to relieve intractable foot and ankle pain resulted in a favorable outcome for this patient. Conclusion Select patients with severe CRPS-1 who are unresponsive to all forms of treatment for pain may benefit from amputation as a last option for relief of suffering. Larger studies are needed to prove the efficacy of amputation.

  2. Botulinum toxin therapy of laryngeal muscle hyperactivity syndromes: comparing different botulinum toxin preparations.

    PubMed

    Truong, D D; Bhidayasiri, R

    2006-02-01

    Spasmodic dysphonia (SD) is a focal dystonia characterized by a strained, strangled voice. Botulinum toxin is a symptomatic treatment for SD and has become the mainstay of therapy over the last two decades. In this manuscript, we briefly review different laryngeal muscle hyperactivity syndromes, their injection techniques and toxins currently available. Adductor SD is the most common indication for botulinum toxin treatment in the larynx. All studies report similar results with regard to improvement, patient satisfaction and side effects. We describe different injection techniques to treat this disorder such as the percutaneous, transoral, transnasal, point-touch techniques. In abductor SD, a subtype of SD, the treatment is aimed at the posterior cricoarytenoid muscle. Other applications of botulinum toxin in the larynx include spasmodic laryngeal dyspnea and voice tremors. We also review injection techniques, the different toxin types used, and toxin doses. PMID:16417596

  3. Combination anti-VEGF and corticosteroid therapy for idiopathic retinal vasculitis, aneurysms, and neuroretinitis syndrome.

    PubMed

    Sawhney, Gagan K; Payne, John F; Ray, Robin; Mehta, Sonia; Bergstrom, Chris S; Yeh, Steven

    2013-11-01

    Vision loss associated with the idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome most commonly occurs from macular edema or complications related to neovascularization. The authors present a case of advanced IRVAN associated with a massive exudative response characterized by peripheral retinal telangiectasias, exudative retinal detachment, and macular edema with lipid maculopathy. The patient was managed successfully with visual acuity from hand motion to 20/150 using a combination of local corticosteroids, intravitreal bevacizumab, panretinal photocoagulation, and eventually pars plana vitrectomy for progressive vitreomacular traction. VEGF- and non-VEGF-mediated mechanisms appear to be involved in the pathogenesis of IRVAN given the efficacy of combination therapy. [ophthalmic surg lasers imaging retina. 2013;44:599-602.]. PMID:24221466

  4. New therapies in steroid-sensitive and steroid-resistant idiopathic nephrotic syndrome.

    PubMed

    van Husen, Michael; Kemper, Markus J

    2011-06-01

    Although many children with idiopathic nephrotic syndrome (INS) respond initially to steroid therapy, repeated courses for patients with relapses often cause significant steroid toxicity. Patients with frequent relapses who develop steroid dependency thus require alternative treatment. The first such options have been considered to be cyclophosphamide or levamisole, although the latter is no longer available in many countries. There is also an increasing body of data indicating that mycophenolic acid (MPA) may be an alternative for these patients. Calcineurin inhibitors (cyclosporine A or tacrolimus) are usually effective and often used after cytotoxic treatment, but long-term treatment with these agents is necessary, raising concerns of a possible accumulation of side effects. Some patients show a tendency to relapse even on such maintenance regimens, and some even have a refractory course that creates a medical dilemma. For this situation, recent data indicate that monoclonal antibodies directed to B-cells (e.g. rituximab) may have some effect and that such drugs may also prove to be a therapeutic option in less complicated cases. Patients that do not respond to steroid treatment need genetic testing and a renal biopsy since focal segmental glomerulosclerosis (FSGS) may be present. Treatment options include pulse methylprednisolone, often in addition to calcineurin inhibitors, mainly in the form of cyclosporine, but tacrolimus has also come into recent favor. Some studies have found cytotoxic treatment, especially intravenous cyclophosphamide, to be effective in steroid resistant nephrotic syndrome, but it seems to be inferior to calcineurin inhibitors. MPA and rituximab have also been used in children with primary FSGS, but the response seems to be inferior to that in patients with steroid sensitive nephrotic syndrome. Taken together, INS in both steroid-sensitive and steroid-resistant patients is a potentially complicated disorder, and despite a wide arsenal of immunological interventions, some patients have a treatment refractory course. Prospective studies or at least standardized treatment for complicated cases is urgently needed. PMID:21229269

  5. Low-level laser therapy of myofascial pain syndromes of patients with osteoarthritis of knee and hip joints

    NASA Astrophysics Data System (ADS)

    Gasparyan, Levon V.

    2001-04-01

    The purpose of the given research is the comparison of efficiency of conventional treatment of myofascial pain syndromes of patients with osteoarthritis (OA) of hip and knee joints and therapy with additional application of low level laser therapy (LLLT) under dynamic control of clinical picture, rheovasographic, electromyographic examinations, and parameters of peroxide lipid oxidation. The investigation was made on 143 patients with OA of hip and knee joints. Patients were randomized in 2 groups: basic group included 91 patients, receiving conventional therapy with a course of LLLT, control group included 52 patients, receiving conventional treatment only. Transcutaneous ((lambda) equals 890 nm, output peak power 5 W, frequency 80 - 3000 Hz) and intravenous ((lambda) equals 633 nm, output 2 mW in the vein) laser irradiation were used for LLLT. Studied showed, that clinical efficiency of LLLT in the complex with conventional treatment of myofascial pain syndromes at the patients with OA is connected with attenuation of pain syndrome, normalization of parameters of myofascial syndrome, normalization of the vascular tension and parameters of rheographic curves, as well as with activation of antioxidant protection system.

  6. Treatment of snoring with positional therapy in patients with positional obstructive sleep apnea syndrome

    PubMed Central

    Chen, Wen-Chyuan; Lee, Li-Ang; Chen, Ning-Hung; Fang, Tuan-Jen; Huang, Chung-Guei; Cheng, Wen-Nuan; Li, Hsueh-Yu

    2015-01-01

    Position therapy plays a role in treating snoring and obstructive sleep apnea syndrome (OSAS). The purpose of this study was to investigate whether position therapy using a head-positioning pillow (HPP) could reduce snoring sounds in patients with mild-to-moderate positional OSAS, taking into account the potential confounding effects of body weight. A total of 25 adults with positional OSAS (apnea-hypopnea index [AHI]supine:AHInon-supine???2) were prospectively enrolled. Patients were asked to use their own pillows at home during the first night (N0), and the HPP during the second (N1) and third (N2) nights. The primary outcome measures included the subjective snoring severity (SS, measured on a visual analogue scale ranging from 0 to 10) and the objective snoring index (SI, expressed as the number of snoring events per hour measured on an acoustic analytical program). Both endpoints were recorded over three consecutive nights. From N0 to N2, the median SS and SI values in the entire study cohort decreased significantly from 5.0 to 4.0 and from 218.0 events/h to 115.0 events/h, respectively. In the subgroup of overweight patients, SS showed a significant improvement, whereas SI did not. Both SS and SI were found to be significantly improved in normal-weight patients. PMID:26657174

  7. Clinical pilot study: efficacy of triple antibiotic therapy in Blastocystis positive irritable bowel syndrome patients

    PubMed Central

    2014-01-01

    Background Blastocystis species are common human enteric parasites. Carriage has been linked to Irritable Bowel Syndrome (IBS). Treatment of Blastocystis spp. with antimicrobials is problematic and insensitive diagnostic methods and re-infection complicate assessment of eradication. We investigated whether triple antibiotic therapy comprising diloxanide furoate, trimethoprim/sulfamethoxazole and secnidazole (TAB) given to diarrhoea-predominant IBS (D-IBS) patients positive for Blastocystis would achieve eradication. Methods In a longitudinal, prospective case study 10 D-IBS Blastocystis-positive patients took 14 days of diloxanide furoate 500 mg thrice daily, trimethoprim/sulfamethoxazole 160/80 mg twice daily and secnidazole 400 mg thrice daily. Faecal specimens were collected at baseline, day 15 and 4 weeks after completion of TAB. Specimens were analysed using faecal smear, culture and polymerase chain reaction (PCR) of the 16 SSU rRNA. Patients kept a concurrent clinical diary. Results Six (60%) patients cleared Blastocystis spp. after TAB, including three who had failed previous therapy. Subtypes detected were ST3 (60%), ST4 (40%), ST1 (20%) and ST7, 8 (10%); four patients had mixed ST infections. Serum immunoglobulin A (IgA) levels were low in 40% of patients. Higher rates of Blastocystis clearance were observed in patients symptomatic for less than a year (Mann–Whitney, p?=?0.032, 95% confidence) with no associations found with age, previous antibiotic therapy, faecal parasite load, ST, IgA level or clinical improvement. Conclusions Clearance of Blastocystis spp. was achieved with TAB in 60% of D-IBS patients, an improvement over conventional monotherapy. Higher clearance rates are needed to facilitate investigation of the relevance of this parasite in clinically heterogenous IBS. PMID:25349629

  8. Static Magnetic Field Therapy for Carpal Tunnel Syndrome: A Feasibility Study

    PubMed Central

    Colbert, Agatha P.; Markov, Marko S.; Carlson, Nels; Gregory, William L.; Carlson, Hans; Elmer, Patricia J.

    2010-01-01

    Objectives To assess the feasibility of conducting trials of static magnetic field (SMF) therapy for carpal tunnel syndrome (CTS), to collect preliminary data on the effectiveness of two SMF dosages and to explore the influence of a SMF on median nerve conduction. Design Randomized, double blind, sham controlled trial with 6-week intervention and 12-week follow-up. Setting University hospital outpatient clinics Participants Women and men (N=60), ages 21–65, with electrophysiologically-confirmed CTS diagnosis, recruited from the general population. Interventions Participants wore nightly either neodymium magnets that delivered either 15 or 45mTesla (mT) to the contents of the carpal canal, or a non-magnetic disk. Main Outcome Measures Symptom Severity Scale (SSS) and Function Severity Scale (FSS) of the Boston Carpal Tunnel Questionnaire (BCTQ) and 4 median nerve parameters: sensory distal latency, sensory nerve action potential amplitude, motor distal latency and compound motor action potential amplitude). Results 58 of 60 randomized participants completed the study. There were no significant between-group differences for change in the primary endpoint SSS or for FSS or median nerve conduction parameters. For the SSS and the FSS each group showed a reduction at 6-weeks indicating improvement in symptoms. Conclusions This study demonstrated the feasibility and safety of testing SMF therapy for CTS. There were no between-group differences observed for the BCTQ or median nerve parameters following 6 weeks of SMF therapy. Significant within-group, symptomatic improvements of the same magnitude were experienced by participants in both active and sham magnet groups. Future studies are needed to optimize SMF dosimetry and resolve issues related to the use of sham controls in SMF trials. PMID:20599049

  9. Monitoring anticoagulant therapy with vitamin K antagonists in patients with antiphospholipid syndrome.

    PubMed

    Isert, Mecki; Miesbach, Wolfgang; Schüttfort, Gundolf; Weil, Yvonne; Tirneci, Vanessa; Kasper, Alexander; Weber, Adele; Lindhoff-Last, Edelgard; Herrmann, Eva; Linnemann, Birgit

    2015-08-01

    Because of the possible interference of antiphospholipid antibodies (APL) with the phospholipid component of thromboplastin reagents, concerns have been raised about the validity of international normalized ratio (INR) testing to monitor anticoagulant therapy with vitamin K antagonists in patients with antiphospholipid syndrome (APS). To investigate the reliability of the INR, we determined the INR using various prothrombin time (PT) assays and compared the results with those of a chromogenic factor X (CFX) assay. The study cohort consisted of 40 APS patients and 100 APL-negative patients who were on anticoagulant therapy for reasons other than APS. The agreement (i.e. the percentage of patients with a difference ?0.5 INR units) between the PT-derived INR and CFX-derived INR equivalents was only moderate in both patient groups. The best agreement with CFX-derived INR equivalents was observed for the Thromborel S reagent in APS patients (69.1 %) and for Neoplastin Plus in APL-negative patients (72.0 %). Regarding the results for the point-of-care system CoaguChek XS, an agreement between the INR and the CFX-derived INR equivalent was less frequently observed in the APS patients (55.6 vs. 67.8 %; p?=?0.050). When considering all 3058 pairs of INR tests within the international sensitivity index (ISI)-calibrated range of 1.5 to 4.5 s, we did not observe a higher variability of INR values in either the APS patient group or the subgroup of APS patients positive for lupus coagulants compared with the APL-negative controls. In conclusion, monitoring vitamin K antagonists (VKA) therapy with laboratory INR measurements seems to be suitable for the majority of APS patients. PMID:25859986

  10. A randomised controlled trial of azithromycin therapy in bronchiolitis obliterans syndrome (BOS) post lung transplantation

    PubMed Central

    Corris, Paul A; Ryan, Victoria A; Small, Therese; Lordan, James; Fisher, Andrew J; Meachery, Gerard; Johnson, Gail; Ward, Chris

    2015-01-01

    Background We conducted a placebo-controlled trial of azithromycin therapy in bronchiolitis obliterans syndrome (BOS) post lung transplantation. Methods We compared azithromycin (250?mg alternate days, 12?weeks) with placebo. Primary outcome was FEV1 change at 12?weeks. Results 48 patients were randomised; (25 azithromycin, 23 placebo). It was established, post randomisation that two did not have BOS. 46 patients were analysed as intention to treat (ITT) with 33 ‘Completers’. ITT analysis included placebo patients treated with open-label azithromycin after study withdrawal. Outcome The ITT analysis (n=46, 177 observations) estimated mean difference in FEV1 between treatments (azithromycin minus placebo) was 0.035?L, with a 95% CI of ?0.112?L to 0.182?L (p=0.6). Five withdrawals, who were identified at the end of the study as having been randomised to placebo (four with rapid loss in FEV1, one withdrawn consent) had received rescue open-label azithromycin, with improvement in subsequent FEV1 at 12?weeks. Study Completers showed an estimated mean difference in FEV1 between treatment groups (azithromycin minus placebo) of 0.278?L, with 95% CI for the mean difference: 0.170?L to 0.386?L (p=<0.001). Nine of 23 ITT patients in the azithromycin group had ?10% gain in FEV1 from baseline. No patients in the placebo group had ?10% gain in FEV1 from baseline while on placebo (p=0.002). Seven serious adverse events, three azithromycin, four in the placebo group, were deemed unrelated to study medication. Conclusions Azithromycin therapy improves FEV1 in patients with BOS and appears superior to placebo. This study strengthens evidence for clinical practice of initiating azithromycin therapy in BOS. Trial registration number EU-CTR, 2006-000485-36/GB. PMID:25714615

  11. Effect of Short Term CPAP Therapy in Obstructive Sleep Apnea Patients with Metabolic Syndrome

    PubMed Central

    C., Balaji; A., Saravanan; K., Ravi

    2015-01-01

    Background Patients of obstructive sleep apnea (OSA) with metabolic syndrome (MetS) are at increased risk of cardiovascular morbidity and mortality. The role of oxidative stress in pathogenesis of OSA and MetS has been widely reported. Continuous positive airway pressure (CPAP) therapy remains the first-line of treatment in OSA. The beneficial effect of long term CPAP therapy in OSA is well-known. However, the effect of short term CPAP on the components of MetS and oxidative stress-antioxidant levels is still unclear. Aim The present study explored the effects of one night of CPAP therapy on the oxidant-antioxidant status and components of MetS in patients of OSA with MetS. Materials and Methods Twenty adult males and postmenopausal females with MetS and symptoms suggestive of OSA were enrolled in the study. None of the subjects were smoker or alcoholic. They did not consume any drugs that would alter their antioxidant levels. Overnight polysomnography was done to confirm diagnosis and assess CPAP pressure. Following which they spent one night in the sleep lab for CPAP therapy. Blood pressure data and blood samples were collected at baseline and after CPAP. Collected samples were transferred immediately to the laboratory for analysis of serum thiol, lipid peroxidation, insulin resistance (HOMA-IR) and lipid profile. Results Paired t-test with two-tail significance was used to compare the changes in study parameters in the same patient before and after treatment. The antioxidant level increased and oxidative stress decreased as evidenced by serum thiol concentration (204.2±65.7 vs 254.9±72 ?mol/L, p<0.001) and lipid peroxidation levels (13.1±6.2 vs 8.4±3.1 ?mol/L, p<0.01).There was a significant decrease in both systolic (132.1±16.1 vs 127.2±14.3 mmHg, p<0.01) and diastolic blood pressure (86.4±9.4 vs 81.2±9.8 mmHg, p<0.01) after one night of CPAP. However, there was no change in lipid parameters and the reduction seen in insulin resistance was not statistically significant. Conclusion One night of CPAP therapy seems to be helpful in reducing oxidative stress, improving antioxidant levels and decreasing the severity of various components of MetS. PMID:26023552

  12. Combination Systemic and Intravitreal Antiviral Therapy in The Management of Acute Retinal Necrosis Syndrome (An American Ophthalmological Society Thesis)

    PubMed Central

    Flaxel, Christina J.; Yeh, Steven; Lauer, Andreas K.

    2013-01-01

    Purpose: To compare the outcomes of combination systemic and intravitreal antiviral therapy vs systemic antiviral therapy alone for treating acute retinal necrosis syndrome (ARN). We hypothesize that combination therapy might result in superior visual acuity (VA) and retinal detachment (RD) outcomes vs traditional systemic antiviral therapy alone. Methods: A retrospective, interventional, comparative single-center study of patients with ARN. We reviewed demographic data, herpesvirus diagnoses, polymerase chain reaction (PCR) results, VA, RD, and the use of systemic and intravitreal antiviral therapy. Outcome measures included VA improvement by 2 or more lines, severe visual loss, VA ?20/200, and RD. Results: We studied 29 eyes of 24 patients, treated from 1987 through 2009. Mean age was 42.6 years and mean follow-up was 44.0 months. Twelve patients (14 eyes) were treated with combined systemic and intravitreal antiviral therapy and 12 patients (15 eyes) with systemic therapy alone. Kaplan-Meier survival analysis revealed that patients receiving combination intravitreal and systemic antiviral therapy were more likely to have VA improved by 2 lines or greater (P=.006). Patients receiving combination therapy also showed a decreased incidence of progression to severe visual loss (0.13/patient-years [PY]) compared to patients receiving systemic therapy alone (0.54/PY, P=.02) and had decreased incidence of RD (0.29/PY vs 0.74/PY, P=.03). Conclusions: Combination oral and intravitreal antiviral therapy may improve visual and functional outcomes in patients with ARN. Clinicians should consider prompt administration of combination systemic and intravitreal antiviral therapy as first-line treatment for patients with clinical features of ARN. PMID:24385671

  13. Glucocorticoid levels in maternal and cord serum after prenatal betamethasone therapy to prevent respiratory distress syndrome.

    PubMed Central

    Ballard, P L; Granberg, P; Ballard, R A

    1975-01-01

    Serum glucocorticoid levels were determined in 20 mothers and 43 premature infants who received prenatal betamethasone therapy for prevention of respiratory distress syndrome (RDS). Maternal betamethasone peaked at 75 microg cortisol equivalents per 100 ml 1 h after injection of 12 mg steroid and declined to half by 6 h. Betamethasone in cord blood was 14.3 microg cortisol equivalents per 100 ml at 1 h, decreased to a level of 4.7 at 20 h, and was not detected 2 days after a second dose at 24 h. After the second dose, the mean level of cortisol in cord blood was 5.9 microg per 100 ml compared with 13.05 microg per 100 ml (p less than 0.001) in untreated premature infants. The unbound glucocorticoid activity in treated infants delivered 1-10 h after the second dose (mean, 8.4 microg per 100 ml) is similar to the unbound cortisol level after birth in untreated premature infants who develop RDS. These findings indicate that (a) serum glucocorticoid levels in the physiologic stress range can induce lung maturation in the human and (b) antenatal treatment with this dose of betamethasone does not expose the human fetus to potentially harmful pharmacologic levels of steroid. PMID:1202085

  14. Modelisation microstructurale en fatigue/fluage a froid des alliages de titane quasi alpha par le modele des automates cellulaires

    NASA Astrophysics Data System (ADS)

    Boutana, Mohammed Nabil

    Les proprietes d'emploi des alliages de titane sont extremement dependantes a certains aspects des microstructures developpees lors de leur elaboration. Ces microstructures peuvent etre fortement heterogenes du point de vue de leur orientation cristallographique et de leur repartition spatiale. Leurs influences sur le comportement du materiau et son endommagement precoce sont des questions qui sont actuellement soulevees. Dans le present projet de doctorat on chercher a repondre a cette question mais aussi de presenter des solutions tangibles quant a l'utilisation securitaire de ces alliages. Un nouveau modele appele automate cellulaire a ete developpe pour simuler le comportement mecanique des alliages de titane en fatigue-fluage a froid. Ces modeles ont permet de mieux comprendre la correlation entre la microstructure et le comportement mecanique du materiau et surtout une analyse detaillee du comportement local du materiau. Mots-cles: Automate cellulaire, fatigue/fluage, alliage de titane, inclusion d'Eshelby, modelisation

  15. Probable case of drug reaction with eosinophilia and systemic symptom syndrome due to combination therapy with daclatasvir and asunaprevir

    PubMed Central

    Suga, Takayoshi; Sato, Ken; Yamazaki, Yuichi; Ohyama, Tatsuya; Horiguchi, Norio; Kakizaki, Satoru; Kusano, Motoyasu; Yamada, Masanobu

    2015-01-01

    A 66-year-old, interferon-ineligible, treatment-naive man who was diagnosed with chronic hepatitis C due to hepatitis C virus genotype 1b began combination therapy with daclatasvir and asunaprevir. On day 14 of treatment, hepatic reserve and renal function deterioration was observed, while his transaminase levels were normal. Both daclatasvir and asunaprevir were discontinued on day 18 of treatment, because the patient complained of dark urine and a rash on his trunk and four limbs. After discontinuing antiviral therapy, the abnormal laboratory finding and clinical manifestations gradually improved, without recurrence. Our case fulfilled the diagnostic criteria of probable drug reaction with eosinophilia and systemic symptom (DRESS) syndrome. Despite the 18-d treatment, sustained virological response 12 was achieved. Based on the clinical course, we concluded that there was a clear cause-and-effect relationship between the treatment and adverse events. To our knowledge, this patient represents the first case of probable DRESS syndrome that includes concomitant deterioration of hepatic reserve and renal function due to combination therapy with daclatasvir and asunaprevir, regardless of normalization of transaminase levels. Our case suggests that we should pay attention not only to the transaminase levels but also to allergic symptoms associated with organ involvement during combination therapy with daclatasvir and asunaprevir. PMID:26677451

  16. Probable case of drug reaction with eosinophilia and systemic symptom syndrome due to combination therapy with daclatasvir and asunaprevir.

    PubMed

    Suga, Takayoshi; Sato, Ken; Yamazaki, Yuichi; Ohyama, Tatsuya; Horiguchi, Norio; Kakizaki, Satoru; Kusano, Motoyasu; Yamada, Masanobu

    2015-12-16

    A 66-year-old, interferon-ineligible, treatment-naive man who was diagnosed with chronic hepatitis C due to hepatitis C virus genotype 1b began combination therapy with daclatasvir and asunaprevir. On day 14 of treatment, hepatic reserve and renal function deterioration was observed, while his transaminase levels were normal. Both daclatasvir and asunaprevir were discontinued on day 18 of treatment, because the patient complained of dark urine and a rash on his trunk and four limbs. After discontinuing antiviral therapy, the abnormal laboratory finding and clinical manifestations gradually improved, without recurrence. Our case fulfilled the diagnostic criteria of probable drug reaction with eosinophilia and systemic symptom (DRESS) syndrome. Despite the 18-d treatment, sustained virological response 12 was achieved. Based on the clinical course, we concluded that there was a clear cause-and-effect relationship between the treatment and adverse events. To our knowledge, this patient represents the first case of probable DRESS syndrome that includes concomitant deterioration of hepatic reserve and renal function due to combination therapy with daclatasvir and asunaprevir, regardless of normalization of transaminase levels. Our case suggests that we should pay attention not only to the transaminase levels but also to allergic symptoms associated with organ involvement during combination therapy with daclatasvir and asunaprevir. PMID:26677451

  17. LEGO[R] Therapy and the Social Use of Language Programme: An Evaluation of Two Social Skills Interventions for Children with High Functioning Autism and Asperger Syndrome

    ERIC Educational Resources Information Center

    Owens, Gina; Granader, Yael; Humphrey, Ayla; Baron-Cohen, Simon

    2008-01-01

    LEGO[R] therapy and the Social Use of Language Programme (SULP) were evaluated as social skills interventions for 6-11 year olds with high functioning autism and Asperger Syndrome. Children were matched on CA, IQ, and autistic symptoms before being randomly assigned to LEGO or SULP. Therapy occurred for 1 h/week over 18 weeks. A no-intervention…

  18. Rituximab Therapy for Primary Sjögren’s Syndrome: An Open-Label Clinical Trial and Mechanistic Analysis

    PubMed Central

    St Clair, E. William; Levesque, Marc C.; Luning Prak, Eline T.; Vivino, Frederick B.; Alappatt, Chacko J.; Spychala, Meagan E.; Wedgwood, Josiah; McNamara, James; Moser Sivils, Kathy L.; Fisher, Lytia; Cohen, Philip

    2013-01-01

    Objective To study the safety and clinical efficacy of rituximab therapy for primary Sjögren’s syndrome, as well as investigate its mechanisms. Methods Patients with primary Sjögren’s syndrome were enrolled in an open-label trial and received rituximab (1 g) on days 1 and 15 and followed through week 52. The primary endpoint was safety, with secondary endpoints evaluating clinical and biologic efficacy. Blood was obtained for enumeration of lymphocyte subsets, measurement of serum autoantibodies and BAFF levels, and analysis of gene expression. Results Twelve female subjects with primary Sjögren’s syndrome were administered rituximab. They had a median (range) age of 51 (34–69) years and a median (range) disease duration of 8.0 (2–18) years. We observed no unexpected toxicities from rituximab therapy. Modest improvements were observed at week 26 in patient-reported symptoms of fatigue and oral dryness, with no significant improvement in the objective measures of lacrimal and salivary gland function. The recovery of blood B cells following the nadir from rituximab therapy was characterized by a predominance of transitional B cells and a lack of memory B cells. While blood B cell depletion was associated with an increase in serum BAFF levels, no significant changes were observed in the levels of serum anti-Ro/SSA, anti-La/SSB, and anti-muscarinic receptor 3 autoantibodies or in the blood IFN signature. Conclusion In primary Sjögren’s syndrome, a single treatment course of rituximab was not associated with any unexpected toxicities and led to only modest clinical benefits despite effective depletion of blood B cells. PMID:23334994

  19. Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey.

    PubMed

    Bienemann, Klaus; Burkhardt, Birgit; Modlich, Simon; Meyer, Ulrike; Möricke, Anja; Bienemann, Kirsten; Mauz-Körholz, Christine; Escherich, Gabriele; Zimmermann, Martin; Körholz, Dieter; Janka-Schaub, Gritta; Schrappe, Martin; Reiter, Alfred; Borkhardt, Arndt

    2011-11-01

    Children with chromosomal instability syndromes have an increased risk of developing lymphoma and leukaemia. The treatment of these malignancies is hampered by therapy-associated toxicity and infectious complications. This retrospective analysis evaluated the therapy outcome of 38 children with Ataxia teleangiectasia or Nijmegen-breakage syndrome with acute lymphoblastic leukaemia (ALL, n = 9), Non-Hodgkin lymphoma (NHL, n = 28) and Hodgkin lymphoma (HL, n = 1). All patients with NHL or ALL were treated in accordance to Berlin-Frankfurt-Münster (BFM)- or Co-operative study group for childhood ALL (CoALL)-oriented chemotherapy schedules. 22 patients received significantly reduced-intensity chemotherapy. After a median follow-up of 3·7 years the 10-year overall survival was 58%. Dosage-reduction of chemotherapeutic drugs seemed to have no disadvantages and reduced toxic side effects. On the other hand, reduced-intensity chemotherapy did not prevent second malignancies, which occurred in ten patients with a 10-year incidence of 25%. After individual treatment approaches three of these patients with second malignancies were in complete clinical remission for more than 5 years. We conclude that BFM- or CoALL-oriented chemotherapy is effective and can be administered in children with AT or NBS. Moreover, we show that even second lymphoid malignancies can successfully be treated in these patients. PMID:21923652

  20. Upper extremity acute compartment syndrome during tissue plasminogen activator therapy for pulmonary embolism in a morbidly obese patient

    PubMed Central

    Tuna, Serkan; Duymus, Tahir Mutlu; Mutlu, Serhat; Ketenci, Ismail Emre; Ulusoy, Ayhan

    2015-01-01

    Introduction Deep vein thrombosis (DVT) and pulmonary embolism (PE) are more frequently observed in morbidly obese patients. Tissue plasminogen activator (tPA) is a thrombolytic agent which dissolves the thrombus more rapidly than conventional heparin therapy and reduces the mortality and morbidity rates associated with PE. Compartment syndrome is a well-known and documented complication of thrombolytic treatment. In awake, oriented and cooperative patients, the diagnosis of compartment syndrome is made based on clinical findings including swelling, tautness, irrational and continuous pain, altered sensation, and severe pain due to passive stretching. These clinical findings may not be able to be adequately assessed in unconscious patients. Presentation of case In this case report, we present compartment syndrome observed, for which fasciotomy was performed on the upper right extremity of a 46-year old morbidly obese, conscious female patient who was receiving tPA due to a massive pulmonary embolism. Discussion Compartment syndrome had occurred due to the damage caused by the repeated unsuccessful catheterisation attempts to the brachial artery and the accompanying tPA treatment. Thus, the bleeding that occurred in the volar compartment of the forearm and the anterior compartment of the arm led to acute compartment syndrome (ACS). After relaxation was brought about in the volar compartment of the forearm and the anterior compartment of the arm, the circulation in the limb was restored. Conclusion As soon as the diagnosis of compartment syndrome is made, an emergency fasciotomy should be performed. Close follow-up is required to avoid wound healing problems after the fasciotomy. PMID:25618841

  1. Persistence of the benefit of an antioxidant therapy in children and teenagers with Down syndrome.

    PubMed

    Parisotto, Eduardo Benedetti; Giaretta, Andréia Gonçalves; Zamoner, Ariane; Moreira, Emilia Addison Machado; Fröde, Tânia Silvia; Pedrosa, Rozangela Curi; Filho, Danilo Wilhelm

    2015-01-01

    This study examined the effect of an antioxidant intervention in biomarkers of inflammation and oxidative stress (OS) in the blood of Down syndrome (DS) children and teenagers during four different stages. A control group was composed by healthy children (n=18), assessed once, and a Down group composed by DS patients (n=21) assessed at the basal period (t0), as well as after 6 months of antioxidant supplementation (t1), after 12 months (after interruption of the antioxidant intervention for 6 months) (t2), and again after further 6 months of antioxidant supplementation (t3). Biomarkers of inflammation (myeloperoxidase activity - MPO and levels of IL-1? and TNF-?) and OS (thiobarbituric acid reactive substances - TBARS, protein carbonyls - PC), reduced glutathione (GSH), uric acid (UA) and vitamin E levels, as well as antioxidant enzymes such as superoxide dismutase (SOD), catalase (CAT), glutathione reductase (GPx), glutathione reductase (GR), glutathione-S-transferase (GST) and gamma-glutamyltransferase (GGT) activities, were measured after each period. After the antioxidant supplementation, the activities of SOD, CAT, GPx, GR, GGT and MPO were downregulated, while TBARS contents were strongly decreased, the contents of GSH and vitamin E were significantly increased, and no changes in G6PD and GST activity as well as in UA and PC levels were detected. After the interruption of the antioxidant therapy for 6 months, DS patients showed elevated GPx and GGT activities and also elevated UA and TBARS levels. No changes in SOD, CAT, GR, GST, G6PD and MPO activities as well as in GSH, vitamin E, PC, TNF-? and IL-1? levels were detected. The results showed that the antioxidant intervention persistently attenuated the systemic oxidative damage in DS patients even after a relatively long period of cessation of the antioxidant intervention. PMID:26207872

  2. Short Children with CHARGE Syndrome: Do They Benefit from Growth Hormone Therapy

    E-print Network

    Dörr, H. G.; Boguszewski, M.; Dahlgren, J.; Dunger, David B.; Geffner, M. E.; Hokken-Koelega, A. C.; Lindberg, A.; Rooman, R.; KIGS International Board

    2015-05-29

    , retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 2009;123:e871-877. 6 Hsu P, Ma A, Wilson M... syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. The Journal of Clinical Endocrinology and Metabolism 2005;90:5621-5626. 13 Blake K, Kirk JM, Ur E: Growth in charge association. Archives of Disease in Childhood...

  3. Treatment results of high dose cabergoline as an adjuvant therapy in six patients with established severe ovarian hyper stimulation syndrome

    PubMed Central

    Saharkhiz, Nasrin; Akbari Sene, Azadeh; Salehpour, Saghar; Tamimi, Maryam; Vasheghani Farahani, Masoumeh; Sheibani, Kourosh

    2014-01-01

    Background: The beneficial role of cabergoline as a prophylactic agent to prevent ovarian hyper stimulation syndrome (OHSS) among high-risk patients has been demonstrated in previous studies. But data for its role as a treatment for established severe OHSS is still limited. We represent the treatment results of high dose oral cabergoline in management of six patients after the syndrome is established. Case: High-dose oral cabergoline (1 mg daily for eight days) was prescribed as an adjuvant to symptomatic treatment for six hospitalized patients with established severe OHSS following infertility treatment cycles. In two cases OHSS resolved rapidly despite the occurrence of ongoing pregnancy. Conclusion: Considering the treatment outcomes of our patients, high dose cabergoline did not eliminate the need for traditional treatments, but it was a relatively effective and safe therapy in management of established severe OHSS, and prevented the increase in its severity following the occurrence of pregnancy. PMID:25469130

  4. Psychological Therapies in Patients with Irritable Bowel Syndrome: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

    PubMed Central

    Altayar, Osama; Prokop, Larry J.; Sood, Amit; Murad, Mohammad Hassan

    2015-01-01

    Background. Irritable bowel syndrome (IBS) is a poorly understood disease with few effective treatments. Psychosocial factors are believed to contribute to the pathogenesis of IBS. Objective. To evaluate the evidence for psychological therapies in IBS treatment. Methods. We searched six medical databases through February 6, 2014, for randomized controlled trials (RCTs) of psychological therapies for the treatment of IBS. Two independent reviewers identified the RCTs, extracted the data, and assessed trial quality. We used the random-effect model to pool standardized mean difference (SMD) and 95% confidence interval (CI) across trials. Results. 15 RCTs that mostly evaluated cognitive behavioral therapy were included. Psychological therapies were associated with improvement in IBS symptoms severity scales (SMD ?0.618; 95% CI: ?0.853 to ?0.383), IBS-Quality of Life (SMD 0.604; 95% CI: 0.440 to 0.768), and abdominal pain (SMD ?0.282; 95% CI: ?0.562 to ?0.001). No statistically significant effect was observed on diarrhea or constipation. Limitations. The trials were at increased risk of bias and the overall sample size was small leading to imprecision. Conclusion. Psychological therapies may improve the quality of life and symptom severity in IBS. The effect size noted is moderate to large and is clinically meaningful. PMID:25802514

  5. Antithrombotic therapy for long-term secondary prevention of acute coronary syndrome in high-risk patients

    PubMed Central

    Husted, Steen

    2015-01-01

    Patients with acute coronary syndrome (ACS) represent a major clinical burden, because they tend to experience recurrent ischemic events. Acute management of patients with ACS includes combination antithrombotic therapy composed of a parenteral anticoagulant and dual-antiplatelet therapy. Dual-antiplatelet therapy is also recommended for long-term secondary prevention of ACS. Despite advances in the antithrombotic therapies available, clinical trials suggest that patients with ACS still faceã10% risk of another event within 12–15 months of the index event. Certain patient populations, such as elderly patients and those with renal impairment or heart failure, are at higher risk of recurrent ACS events, because these patients have more vascular ischemic and bleeding risk factors than most other patients. Evidence from the GRACE and CRUSADE registries suggests underuse of the guideline-recommended evidence-based therapies for the management of ACS in such patients. This review summarizes the current standard of care for patients with ACS, focusing on long-term secondary antithrombotic strategies. Registry data are used to identify high-risk patient populations; the recent antiplatelet and anticoagulant Phase III trial data are summarized to highlight any patient populations who receive greater or lesser benefit from specific long-term antithrombotic strategies. Guideline recommendations are discussed and suggestions are provided to help improve implementation of long-term secondary prevention strategies and patient prognosis after an ACS event. PMID:25733842

  6. Exercise therapy and cognitive behavioural therapy to improve fatigue, daily activity performance and quality of life in Postpoliomyelitis Syndrome: the protocol of the FACTS-2-PPS trial

    PubMed Central

    2010-01-01

    Background Postpoliomyelitis Syndrome (PPS) is a complex of late onset neuromuscular symptoms with new or increased muscle weakness and muscle fatigability as key symptoms. Main clinical complaints are severe fatigue, deterioration in functional abilities and health related quality of life. Rehabilitation management is the mainstay of treatment. Two different therapeutic interventions may be prescribed (1) exercise therapy or (2) cognitive behavioural therapy (CBT). However, the evidence on the effectiveness of both interventions is limited. The primary aim of the FACTS-2-PPS trial is to study the efficacy of exercise therapy and CBT for reducing fatigue and improving activities and quality of life in patients with PPS. Additionally, the working mechanisms, patients' and therapists' expectations of and experiences with both interventions and cost-effectiveness will be evaluated. Methods/Design A multi-centre, single-blinded, randomized controlled trial will be conducted. A sample of 81 severely fatigued patients with PPS will be recruited from 3 different university hospitals and their affiliate rehabilitation centres. Patients will be randomized to one of three groups i.e. (1) exercise therapy + usual care, (2) CBT + usual care, (3) usual care. At baseline, immediately post-intervention and at 3- and 6-months follow-up, fatigue, activities, quality of life and secondary outcomes will be assessed. Costs will be based on a cost questionnaire, and statistical analyses on GEE (generalized estimated equations). Analysis will also consider mechanisms of change during therapy. A responsive evaluation will be conducted to monitor the implementation process and to investigate the perspectives of patients and therapists on both interventions. Discussion A major strength of the FACTS-2-PPS study is the use of a mixed methods design in which a responsive and economic evaluation runs parallel to the trial. The results of this study will generate new evidence for the rehabilitation treatment of persons with PPS. Trial registration Dutch Trial Register NTR1371. PMID:20082714

  7. Evaluation of noncytotoxic DNMT1-depleting therapy in patients with myelodysplastic syndromes

    PubMed Central

    Saunthararajah, Yogen; Sekeres, Mikkael; Advani, Anjali; Mahfouz, Reda; Durkin, Lisa; Radivoyevitch, Tomas; Englehaupt, Ricki; Juersivich, Joy; Cooper, Kathleen; Husseinzadeh, Holleh; Przychodzen, Bartlomiej; Rump, Matthew; Hobson, Sean; Earl, Marc; Sobecks, Ronald; Dean, Robert; Reu, Frederic; Tiu, Ramon; Hamilton, Betty; Copelan, Edward; Lichtin, Alan; Hsi, Eric; Kalaycio, Matt; Maciejewski, Jaroslaw

    2015-01-01

    BACKGROUND. Mutational inactivation in cancer of key apoptotic pathway components, such as TP53/p53, undermines cytotoxic therapies that aim to increase apoptosis. Accordingly, TP53 mutations are reproducibly associated with poor treatment outcomes. Moreover, cytotoxic treatments destroy normal stem cells with intact p53 systems, a problem especially for myeloid neoplasms, as these cells reverse the low blood counts that cause morbidity and death. Preclinical studies suggest that noncytotoxic concentrations of the DNA methyltransferase 1 (DNMT1) inhibitor decitabine produce p53-independent cell-cycle exits by reversing aberrant epigenetic repression of proliferation-terminating (MYC-antagonizing) differentiation genes in cancer cells. METHODS. In this clinical trial, patients with myelodysplastic syndrome (n = 25) received reduced decitabine dosages (0.1–0.2 mg/kg/day compared with the FDA-approved 20–45 mg/m2/day dosage, a 75%–90% reduction) to avoid cytotoxicity. These well-tolerated doses were frequently administered 1–3 days per week, instead of pulse cycled for 3 to 5 days over a 4- to 6-week period, to increase the probability that cancer S-phase entries would coincide with drug exposure, which is required for S-phase–dependent DNMT1 depletion. RESULTS. The median subject age was 73 years (range, 46–85 years), 9 subjects had relapsed disease or were refractory to 5-azacytidine and/or lenalidomide, and 3 had received intensive chemoradiation to treat other cancers. Adverse events were related to neutropenia present at baseline: neutropenic fever (13 of 25 subjects) and septic death (1 of 25 subjects). Blood count improvements meeting the International Working Group criteria for response occurred in 11 of 25 (44%) subjects and were highly durable. Treatment-induced freedom from transfusion lasted a median of 1,025 days (range, 186–1,152 days; 3 ongoing), and 20% of subjects were treated for more than 3 years. Mutations and/or deletions of key apoptosis genes were frequent (present in 55% of responders and in 36% of nonresponders). Noncytotoxic DNMT1 depletion was confirmed by serial BM ?-H2AX (DNA repair/damage marker) and DNMT1 analyses. MYC master oncoprotein levels were markedly decreased. CONCLUSION. Decitabine regimens can be redesigned to minimize cytotoxicity and increase exposure time for DNMT1 depletion, to safely and effectively circumvent mutational apoptotic defects. TRIAL REGISTRATION. Clinicaltrials.gov NCT01165996. FUNDING. NIH (R01CA138858, CA043703); Department of Defense (PR081404); Clinical and Translational Science Award (CTSA) (UL1RR024989); and the Leukemia and Lymphoma Society (Translational Research Program). PMID:25621498

  8. Emerging Role of Myeloperoxidase in the Prognosis of Nephrotic Syndrome Patients Before and After Steroid Therapy

    PubMed Central

    Souparnika, Sreelatha; D’Souza, Vivian; Kumar, Sushanth; Manjrekar, Poornima; Bairy, Manohar; Parthasarathy, Rajeevalochana; Kosuru, Srinivas

    2015-01-01

    Background Myeloperoxidase (MPO) is a myelocyte derived iron containing enzyme particularly involved in host defense by destroying foreign micro organisms invading the body. Numerous evidences suggest that MPO is involved in the pathogenesis of many inflammatory diseases, especially atherosclerosis. Aim Present study deals with the role of MPO in the renal function and progression of disease in Nephrotic syndrome patients. Study Design and Settings Case- Control Study carried out in Kasturba Medical College Hospital, Mangalore, India. Materials and Methods Forty newly diagnosed Nephrotic syndrome cases, 40 age and sex matched healthy controls and 15 subjects in Nephrotic syndrome remission, were included in the study. Myeloperoxidase enzyme was assayed by 4 amino antipyrine methods in all the subjects. Other renal parameters like urea, creatinine, Blood Urea Nitrogen (BUN), BUN- Creatinine ratio (BUN/Cr) total protein, albumin, globulin, albumin – globulin ratio (A/G ratio) and estimated Glomerular Filtration Rate (eGFR) were also analysed. 24 hour urine protein-creatinine ratio was estimated in Nephrotic syndrome cases and remission group by turbidimetric assay. Statistical Analysis Students paired t-test and Wilcoxon Signed Rank test were used for the comparison of the data. Pearson and Spearman analyses were used for correlation of the parameters. Results MPO levels were found to be high in Nephrotic syndrome cases when compared to healthy controls. Urea, creatinine, BUN, BUN/Cr ratio and eGFR were high in Nephrotic syndrome cases while total protein, albumin, globulin and A/G ratio showed decreased levels. MPO had a positive correlation with creatinine and urine protein-creatinine ratio in Nephrotic syndrome. During remission, MPO levels decreased significantly while total protein and albumin levels increased. Conclusion Myeloperoxidase enzyme is found to be elevated and it strongly correlated with the severity of disease in Nephrotic syndrome. Further studies can be done to use MPO as a therapeutic target in Nephrotic syndrome to ameliorate the symptoms. PMID:26393116

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

    PubMed Central

    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 sides of the tongue on the path of taste fibers. A NRS (numerical rating scale) evaluation of maximum and minimum pain was registered before and after the treatment. In each case to the total value of NRS rates registered before the treatment was deducted the total NRS rate registered after the treatment. The difference was estimated effective if over two points. The Kruskall-Wallis test revealed the significance of the study (p<0.0001) and the Dunn’s Multiple Comparison test, applied to compare NRS rates before and after the treatment, showed that there is not a statistically relevant difference between min NRS ratings before and after treatment, while there are statistically significant differences between max NRS ratings (p<0.05). Results All the patients agreed the treatment confirming the general good compliance related to laser treatments. No side effects were registered and all the patients completed the therapy without interruption. Seventeen patients (68%) had relevant benefits from the treatment with valid reduction of NRS ratings. In 8 cases the differences of NRS rates were not relevant being under the limit of reliability established in study design. In no case there was a worsening of the symptoms. Conclusions: According to the results of this pilot study it is reasonable to suppose that LLLT may play an important role in the management of nBMS cases, more investigations are needed to clarify, by a greater number of cases and a placebo control group, the real effectiveness of this innovative LLLT application. PMID:22238700

  10. Acceleration of the Meckel Syndrome by Near-Infrared Light Therapy

    PubMed Central

    Lim, Jinhwan; Gattone, Vincent H.; Sinders, Rachel; Miller, Caroline A.; Liang, Yun; Harris, Peter; Watkins, John B.; Henshel, Diane S.

    2011-01-01

    Background/Aims Phototherapy using a narrow-band, near-infrared (NIR) light (using a light-emitting diode, LED) is being used to treat certain medical conditions. This narrow-band red light has been shown to stimulate cytochrome c oxidase (CCO) in mitochondria that would stimulate ATP production and has the ability to stimulate wound healing. LED treatment also decreases chemical-induced oxidative stress in tested systems. As renal cystic diseases are known to have evidence of oxidative stress with reduced antioxidant protection, we hypothesized that NIR light therapy might ameliorate the renal pathology in renal cystic disease. Methods Wistar-Wpk/Wpk rats with Meckel syndrome (MKS) were treated with light therapy on days 10–18 at which time disease severity was evaluated. Wpk rats were either treated daily for 80 s with narrow-band red light (640–690 nm wavelength) or sham treated. At termination, renal and cerebral pathology was evaluated, and renal expression and activity of enzymes were assessed to evaluate oxidative stress. Blood was collected for blood urea nitrogen (BUN) determination, the left kidney frozen for biochemical evaluation, and the right kidney and head fixed for morphological evaluation. Results There were no significant effects of LED treatment on body weight (BW) or total kidney weight in non-cystic rats. Total kidney weight was increased and anephric BW was decreased in cystic versus non-cystic controls. LED reduced BW and total kidney weight in cystic rats compared to non-light-treated cystic (control) rats. BUN was already increased almost 6-fold in cystic rats compared to control rats. BUN was further increased almost 2-fold with NIR treatment in both non-cystic and cystic rats compared to cystic and control rats. The hydrocephalus associated with Wpk/Wpk (ventricular volume expressed as total volume and as percent of anephric BW) was also more severe in NIR-treated cystic rats compared to the normal control rats. Renal glutathione peroxidase and catalase (CAT) were reduced in the cystic kidney while superoxide dismutase and CCO were increased. NIR increased CAT and CCO, marginally decreased glutathione S-transferase and slightly decreased glutathione reductase in cystic rats compared to the normal control rats. The detrimental effects of NIR may be related to reduced renal blood flow associated with progression of cystic pathology. Compression by cysts may not allow sufficient oxygen or nutrient supply necessary to support the increased oxidative phosphorylation-associated cellular activity, and the increased demand induced by NIR-increased CCO may have created further oxidative stress. Conclusion LED phototherapy initiated after the onset of symptoms was detrimental to MKS-induced pathology. NIR stimulates CCO thereby increasing the kidney's need for oxygen. We hypothesize that cystic compression of the vasculature impairs oxygen availability and the enhanced CCO activity produces more radicals, which are not sufficiently detoxified by the increased CAT activity. PMID:22470396

  11. A Systematic Overview of Reviews for Complementary and Alternative Therapies in the Treatment of the Fibromyalgia Syndrome

    PubMed Central

    Lauche, Romy; Cramer, Holger; Häuser, Winfried; Dobos, Gustav; Langhorst, Jost

    2015-01-01

    Objectives. This systematic overview of reviews aimed to summarize evidence and methodological quality from systematic reviews of complementary and alternative medicine (CAM) for the fibromyalgia syndrome (FMS). Methods. The PubMed/MEDLINE, Cochrane Library, and Scopus databases were screened from their inception to Sept 2013 to identify systematic reviews and meta-analyses of CAM interventions for FMS. Methodological quality of reviews was rated using the AMSTAR instrument. Results. Altogether 25 systematic reviews were found; they investigated the evidence of CAM in general, exercised-based CAM therapies, manipulative therapies, Mind/Body therapies, acupuncture, hydrotherapy, phytotherapy, and homeopathy. Methodological quality of reviews ranged from lowest to highest possible quality. Consistently positive results were found for tai chi, yoga, meditation and mindfulness-based interventions, hypnosis or guided imagery, electromyogram (EMG) biofeedback, and balneotherapy/hydrotherapy. Inconsistent results concerned qigong, acupuncture, chiropractic interventions, electroencephalogram (EEG) biofeedback, and nutritional supplements. Inconclusive results were found for homeopathy and phytotherapy. Major methodological flaws included missing details on data extraction process, included or excluded studies, study details, and adaption of conclusions based on quality assessment. Conclusions. Despite a growing body of scientific evidence of CAM therapies for the management of FMS systematic reviews still show methodological flaws limiting definite conclusions about their efficacy and safety. PMID:26246841

  12. A Systematic Overview of Reviews for Complementary and Alternative Therapies in the Treatment of the Fibromyalgia Syndrome.

    PubMed

    Lauche, Romy; Cramer, Holger; Häuser, Winfried; Dobos, Gustav; Langhorst, Jost

    2015-01-01

    Objectives. This systematic overview of reviews aimed to summarize evidence and methodological quality from systematic reviews of complementary and alternative medicine (CAM) for the fibromyalgia syndrome (FMS). Methods. The PubMed/MEDLINE, Cochrane Library, and Scopus databases were screened from their inception to Sept 2013 to identify systematic reviews and meta-analyses of CAM interventions for FMS. Methodological quality of reviews was rated using the AMSTAR instrument. Results. Altogether 25 systematic reviews were found; they investigated the evidence of CAM in general, exercised-based CAM therapies, manipulative therapies, Mind/Body therapies, acupuncture, hydrotherapy, phytotherapy, and homeopathy. Methodological quality of reviews ranged from lowest to highest possible quality. Consistently positive results were found for tai chi, yoga, meditation and mindfulness-based interventions, hypnosis or guided imagery, electromyogram (EMG) biofeedback, and balneotherapy/hydrotherapy. Inconsistent results concerned qigong, acupuncture, chiropractic interventions, electroencephalogram (EEG) biofeedback, and nutritional supplements. Inconclusive results were found for homeopathy and phytotherapy. Major methodological flaws included missing details on data extraction process, included or excluded studies, study details, and adaption of conclusions based on quality assessment. Conclusions. Despite a growing body of scientific evidence of CAM therapies for the management of FMS systematic reviews still show methodological flaws limiting definite conclusions about their efficacy and safety. PMID:26246841

  13. Cost Effectiveness of Antiplatelet and Antithrombotic Therapy in the Setting of Acute Coronary Syndrome: Current Perspective and Literature Review.

    PubMed

    Fanari, Zaher; Weiss, Sandra; Weintraub, William S

    2015-12-01

    Acute coronary syndromes (ACS) are associated with high rates of morbidity and mortality. The advances of antiplatelet and anticoagulation therapy over several years time have resulted in improved in cardiac outcomes, but with increased health care costs. Multiple cost-effectiveness studies have been performed to evaluate the use of available antiplatelet agents and anticoagulation in the setting of both ST-segment elevation myocardial infarction (STEMI) and non-ST-segment elevation acute coronary syndrome (NSTE-ACS). Early on, the use of glycoprotein IIb/IIIa receptor inhibitors (GPIs) proved to be economically attractive in the management of ACS; however, the introduction of P2Y12 receptor antagonists limited their use to a bail out agents in complex interventions. Generic clopidogrel is probably still an economically attractive P2Y12 receptor antagonist choice, especially in low-risk ACS, while both ticagrelor and prasugrel present an economically attractive alternative option, especially in high-risk ACS and patients at risk for stent thrombosis. While enoxaparin presents an economically dominant alternative to heparin in NSTE-ACS, its role in STEMI in the contemporary era is unclear. During percutaneous coronary intervention (PCI), bivalirudin monotherapy was shown to be an economically dominant alternative to the combination of heparin and GPI in ACS. However, new studies may suggest that using heparin monotherapy may offer an attractive alternative. The comparative and cost effectiveness of different combinations of antiplatelet and antithrombotic therapy will be the focus of future expected clinical and economic assessments. PMID:26068886

  14. Effects of Levothyroxine Replacement Therapy on Parameters of Metabolic Syndrome and Atherosclerosis in Hypothyroid Patients: A Prospective Pilot Study

    PubMed Central

    Gluvic, Zoran; Sudar, Emina; Tica, Jelena; Jovanovic, Aleksandra; Zafirovic, Sonja; Tomasevic, Ratko; Isenovic, Esma R.

    2015-01-01

    The aim of this study was to investigate the effect of levothyroxine (LT4) replacement therapy during three months on some parameters of metabolic syndrome and atherosclerosis in patients with increased thyroid-stimulating hormone (TSH) level. This study included a group of 30 female patients with TSH level >4?mIU/L and 15 matched healthy controls. Intima media complex thickness (IMCT) and peak systolic flow velocity (PSFV) of superficial femoral artery were determined by Color Doppler scan. In hypothyroid subjects, BMI, SBP, DBP, and TSH were significantly increased versus controls and decreased after LT4 administration. FT4 was significantly lower in hypothyroid subjects compared with controls and significantly higher by treatment. TC, Tg, HDL-C, and LDL-C were similar to controls at baseline but TC and LDL-C were significantly decreased by LH4 treatment. IMCT was significantly increased versus controls at baseline and significantly reduced by treatment. PSFV was similar to controls at baseline and significantly decreased on treatment. In this study, we have demonstrated the effects of LT4 replacement therapy during three months of treatment on correction of risk factors of metabolic syndrome and atherosclerosis. PMID:25821465

  15. Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.

    PubMed

    Bowden, Sasigarn A; Patel, Hiren P; Beebe, Allan; McBride, Kim L

    2013-01-01

    Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. She was referred to the metabolic bone and genetics clinics at 5 years of age with severe genu valgum deformities of 24 degrees and worsening rickets. She had polyuria, polydipsia, enuresis, and bone pain. Diagnosis of hypophosphatemic rickets due to de Toni-Debré-Fanconi syndrome was subsequently made. Respiratory chain enzyme analysis identified a complex I mitochondrial deficiency as the underlying cause. She was treated with phosphate (50-70?mg/kg/day), calcitriol (30?ng/kg/day), and sodium citrate with resolution of bone pain and normal growth. By 10 years of age, her genu valgus deformities were 4 degrees with healing of rickets. Her excellent orthopaedic outcome despite late proper medical therapy is likely due to the intrinsic renal tubular defect that is more responsive to combined alkali, phosphate, and calcitriol therapy. PMID:24386581

  16. Prediction of response to therapy with ezatiostat in lower risk myelodysplastic syndrome

    E-print Network

    Galili, Naomi

    Background: Approximately 70% of all patients with myelodysplastic syndrome (MDS) present with lower-risk disease. Some of these patients will initially respond to treatment with growth factors to improve anemia but will ...

  17. Treatment of Fibromyalgia Syndrome: Recommendations of Recent Evidence-Based Interdisciplinary Guidelines with Special Emphasis on Complementary and Alternative Therapies

    PubMed Central

    Fitzcharles, Mary-Ann; Buskila, Dan; Shir, Yoram; Sommer, Claudia

    2013-01-01

    Objective. Current evidence indicates that there is no single ideal treatment for fibromyalgia syndrome (FMS). First choice treatment options remain debatable, especially concerning the importance of complementary and alternative medicine (CAM) treatments. Methods. Three evidence-based interdisciplinary guidelines on FMS in Canada, Germany, and Israel were compared for their first choice and CAM-recommendations. Results. All three guidelines emphasized a patient-tailored approach according to the key symptoms. Aerobic exercise, cognitive behavioral therapy, and multicomponent therapy were first choice treatments. The guidelines differed in the grade of recommendation for drug treatment. Anticonvulsants (gabapentin, pregabalin) and serotonin noradrenaline reuptake inhibitors (duloxetine, milnacipran) were strongly recommended by the Canadian and the Israeli guidelines. These drugs received only a weak recommendation by the German guideline. In consideration of CAM-treatments, acupuncture, hypnosis/guided imagery, and Tai Chi were recommended by the German and Israeli guidelines. The Canadian guidelines did not recommend any CAM therapy. Discussion. Recent evidence-based interdisciplinary guidelines concur on the importance of treatment tailored to the individual patient and further emphasize the need of self-management strategies (exercise, and psychological techniques). PMID:24348701

  18. [Chromosome loss in metaphase of peripheral blood lymphocytes in patients with Turner's syndrome before treatment and at the time of substitution therapy].

    PubMed

    Gronwald, J; Zajaczek, S; Sowi?ska, E; Rzepka-Gorska, I

    1993-05-01

    Chromosome loss in metaphases of 72 hours human peripheral blood lymphocyte cultures, at the Turner syndrome (45,X, and 46,X,izo(Xq),) patients is three times higher than in lymphocyte cultures of healthy women. Hormonal therapy decreases frequency of chromosome loss. PMID:8365682

  19. Diagnosis of Men-I Syndrome on 68Ga-DOTANOC PET-CT and Role of Peptide Receptor Radionuclide Therapy With 177Lu-DOTATATE

    PubMed Central

    kumar Gupta, Santosh; Singla, Suhas; Damle, Nishikant A; Agarwal, Krishankant; Bal, Chandersekhar

    2012-01-01

    Abstract MEN-I is a rare genetic disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary gland, and pancreatic islet cells. We present a case of MEN-I syndrome diagnosed using predominantly nuclear medicine imaging followed by radionuclide therapy, thus emphasizing the role of nuclear imaging in diagnosing and treating MEN-I. PMID:23843835

  20. Iron overload-related heart failure in a patient with transfusion-dependent myelodysplastic syndrome reversed by intensive combined chelation therapy

    PubMed Central

    Pinto, Valeria; Balocco, Manuela; Ambaglio, Ilaria; Derchi, Giorgio; Malcovati, Luca; Forni, Gian Luca

    2015-01-01

    Key Clinical Message Patients with transfusion-dependent myelodysplastic syndromes (MDS) have an increased risk of cardiac events, due to both chronic anemia and iron overload. Here, we report the recovery of cardiac function after an intensive iron chelation therapy in a MDS patient who had developed heart failure due to iron overload. PMID:26576280

  1. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

    PubMed

    Meng, Linyan; Ward, Amanda J; Chun, Seung; Bennett, C Frank; Beaudet, Arthur L; Rigo, Frank

    2015-02-19

    Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase. All patients carry at least one copy of paternal UBE3A, which is intact but silenced by a nuclear-localized long non-coding RNA, UBE3A antisense transcript (UBE3A-ATS). Murine Ube3a-ATS reduction by either transcription termination or topoisomerase I inhibition has been shown to increase paternal Ube3a expression. Despite a clear understanding of the disease-causing event in Angelman syndrome and the potential to harness the intact paternal allele to correct the disease, no gene-specific treatment exists for patients. Here we developed a potential therapeutic intervention for Angelman syndrome by reducing Ube3a-ATS with antisense oligonucleotides (ASOs). ASO treatment achieved specific reduction of Ube3a-ATS and sustained unsilencing of paternal Ube3a in neurons in vitro and in vivo. Partial restoration of UBE3A protein in an Angelman syndrome mouse model ameliorated some cognitive deficits associated with the disease. Although additional studies of phenotypic correction are needed, we have developed a sequence-specific and clinically feasible method to activate expression of the paternal Ube3a allele. PMID:25470045

  2. Three-dimensional evaluation of upper airway in patients with obstructive sleep apnea syndrome during oral appliance therapy.

    PubMed

    Cossellu, Gianguido; Biagi, Roberto; Sarcina, Michele; Mortellaro, Carmen; Farronato, Giampietro

    2015-05-01

    Obstructive sleep apnea syndrome (OSAS) represents a frequent and common respiratory disease characterized by repeated episodes of complete and/or partial obstruction of upper airways during sleep, normally associated with reduction of oxygen saturation in blood. The oral appliances (OAs) are considered to be an effective treatment modality thanks to the upper airway enlargement. Lateral cephalometry has been used for the 2-dimensional evaluation of upper airway form with several limits. We obtained an accurate 3-dimensional (3D) volume analyses with cone beam computed tomography (CBCT) scans to confirm the effects of OA on the upper airway in patients with OSAS. Ten Italian patients with moderate or severe OSA (3 males and 7 females, 53.4 ± 11.3 years of age, and BMI 24.5 ± 2.7), who cannot tolerate continuous positive air pressure therapy and rejected a surgical approach, were treated with non-adjustable customized OAs and evaluated with CBCT and polysomnography. Upper airway form was examined in the presence and absence of OA and the volume was measured and compared in 2 different areas. Specific planes have been considered to match the data and calculate the benefit obtained with therapy. Nine out of ten patients showed an improvement of total upper airway volume and an improvement in apnea-hypopnea index. Volume increased both in the posterior soft palate region and in the posterior tongue region. In the inferior area, we observed greater differences. 3D image reconstruction accurately confirmed morphological changes in the upper airway during OA therapy. The use of this 3D evaluation is expected to improve the results of OA therapy in the future. PMID:25974784

  3. Paraneoplastic stiff person syndrome associated with colon cancer misdiagnosed as idiopathic Parkinson’s disease worsened after capecitabine therapy

    PubMed Central

    2013-01-01

    Objectives To refresh clinical diagnostic dilemmas in patients presenting with symptoms resembling to those of parkinsonism, to report rare association of colon cancer and paraneoplastic stiff person syndrome (SPS), and to draw attention on the possible correlation of capecitabine therapy with worsening of paraneoplastic SPS. Methods Case report of the patient with paraneoplastic SPS due to colon cancer that was misdiagnosed as idiopathic Parkinson’s disease (iPD), whose symptoms worsened after beginning adjuvant capecitabine chemotherapy. Results We describe a 55-year-old woman with subacute onset of symmetrical stiffness and rigidity of the truncal and proximal lower limb muscles that caused lower body bradykinesia, gait difficulties, and postural instability. Diagnose of iPD was made and levodopa treatment was initiated but failed to provide beneficial effect. Six months later, colon cancer was discovered and the patient underwent surgical procedure and chemotherapy with capecitabine thereafter. Aggravation of stiffness, rigidity, and low back pain was observed after the first chemotherapy cycle and capecitabine was discontinued. Furthermore, levodopa was slowly discontinued and low dose of diazepam was administered which resulted in partial resolution of the patient’s symptoms. Conclusion Paraneoplastic SPS is rare disorder with clinical features resembling those of parkinsonian syndrome and making the correct diagnosis remains a challenge. The diagnosis of parkinsonian syndrome should be re-examined if subsequent examinations discover an associated malignant process. Although it remains unclear whether the patients with history of SPS are at the greater risk for symptoms deterioration after administration of capecitabine, clinicians should be aware of capecitabine side effects because recognition and appropriate management can prevent serious adverse outcomes. PMID:24028681

  4. HIV/antiretroviral therapy-related lipodystrophy syndrome (HALS) is associated with higher RBP4 and lower omentin in plasma.

    PubMed

    Peraire, J; López-Dupla, M; Alba, V; Beltrán-Debón, R; Martinez, E; Domingo, P; Asensi, V; Leal, M; Viladés, C; Inza, M-I; Escoté, X; Arnedo, M; Mateo, G; Valle-Garay, E; Ferrando-Martinez, S; Veloso, S; Vendrell, J; Gatell, J M; Vidal, F

    2015-07-01

    Very little information is available on the involvement of newly characterized adipokines in human immunodeficiency virus (HIV)/antiretroviral therapy (ART)-associated lipodystrophy syndrome (HALS). Our aim was to determine whether apelin, apelin receptor, omentin, RBP4, vaspin and visfatin genetic variants and plasma levels are associated with HALS. We performed a cross-sectional multicentre study that involved 558 HIV type 1-infected patients treated with a stable highly active ART regimen, 240 of which had overt HALS and 318 who did not have HALS. Epidemiologic and clinical variables were determined. Polymorphisms in the apelin, omentin, RBP4, vaspin and visfatin genes were assessed by genotyping. Plasma apelin, apelin receptor, omentin, RBP4, vaspin and visfatin levels were determined by enzyme-linked immunosorbent assay in 163 patients (81 with HALS and 82 without HALS) from whom stored plasma samples were available. Student's t test, one-way ANOVA, chi-square test, Pearson and Spearman correlations and linear regression analysis were used for statistical analyses. There were no associations between the different polymorphisms assessed and the HALS phenotype. Circulating RBP4 was significantly higher (p < 0.001) and plasma omentin was significantly lower (p 0.001) in patients with HALS compared to those without HALS; differences in plasma levels of the remaining adipokines were nonsignificant between groups. Circulating RBP4 concentration was predicted independently by the presence of HALS. Apelin and apelin receptor levels were independently predicted by body mass index. Visfatin concentration was predicted independently by the presence of acquired immunodeficiency syndrome. HALS is associated with higher RBP4 and lower omentin in plasma. These two adipokines, particularly RBP4, may be a link between HIV/ART and fat redistribution syndromes. PMID:25882366

  5. Host-directed therapies for improving poor treatment outcomes associated with the middle east respiratory syndrome coronavirus infections.

    PubMed

    Zumla, Alimuddin; Azhar, Esam I; Arabi, Yaseen; Alotaibi, Badriah; Rao, Martin; McCloskey, Brian; Petersen, Eskild; Maeurer, Markus

    2015-11-01

    Three years after its first discovery in Jeddah Saudi Arabia, the novel zoonotic pathogen of humans, the Middle East Respiratory Syndrome Coronavirus (MERS-CoV) continues to be a major threat to global health security.(1) Sporadic community acquired cases of MERS continue to be reported from the Middle East. The recent nosocomial outbreaks in hospitals in Seoul, Korea and at the National Guard Hospital in Riyadh, Saudi Arabia indicate the epidemic potential of MERS-CoV. Currently there are no effective anti-MERS-CoV anti-viral agents or therapeutics and MERS is associated with a high mortality rate (40%) in hospitalised patients. A large proportion of MERS patients who die have a range of pulmonary pathology ranging from pneumonia to adult respiratory distress syndrome with multi-organ failure, compounded by co-morbidities, reflecting a precarious balance of interactions between the host-immune system and MERS-CoV. Whilst we wait for new MERS-CoV specific drugs, therapeutics and vaccines to be developed, there is a need to advance a range of Host-Directed Therapies. A range of HDTs are available, including commonly used drugs with good safety profiles, which could augment host innate and adaptive immune mechanisms to MERS-CoV, modulate excessive inflammation and reduce lung tissue destruction. We discuss the rationale and potential of using Host-Directed Therapies for improving the poor treatment outcomes associated with MERS. Carefully designed randomized controlled trials will be needed to determine whether HDTs could benefit patients with MERS. The recurrent outbreaks of MERS-CoV infections at hospitals in the Middle East present unique opportunities to conduct randomized clinical trials. The time has come for a more coordinated global response to MERS and a multidisciplinary global MERS-CoV response group is required to take forward priority research agendas. PMID:26365771

  6. EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

    PubMed Central

    Canals, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu, Lluïsa; Grinberg, Daniel

    2015-01-01

    Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents severe and progressive neurodegeneration and currently there is no effective treatment. Substrate reduction therapy (SRT) may be a useful option for neurological disorders of this kind, and several approaches have been tested to date. Here we use different siRNAs targeting EXTL2 and EXTL3 genes, which are important for HS synthesis, as SRT in Sanfilippo C patients’ fibroblasts in order to decrease glycosaminoglycan (GAG) storage inside the lysosomes. The results show a high inhibition of the EXTL gene mRNAs (around 90%), a decrease in GAG synthesis after three days (30–60%) and a decrease in GAG storage after 14 days (up to 24%). Moreover, immunocytochemistry analyses showed a clear reversion of the phenotype after treatment. The in vitro inhibition of HS synthesis genes using siRNAs shown here is a first step in the development of a future therapeutic option for Sanfilippo C syndrome. PMID:26347037

  7. Androgen Receptor Roles in Insulin Resistance and Obesity in Males: The Linkage of Androgen-Deprivation Therapy to Metabolic Syndrome

    PubMed Central

    Yu, I-Chen; Lin, Hung-Yun; Sparks, Janet D.; Yeh, Shuyuan

    2014-01-01

    Prostate cancer (PCa) is one of the most frequently diagnosed malignancies in men. Androgen-deprivation therapy (ADT) is the first-line treatment and fundamental management for men with advanced PCa to suppress functions of androgen/androgen receptor (AR) signaling. ADT is effective at improving cancer symptoms and prolonging survival. However, epidemiological and clinical studies support the notion that testosterone deficiency in men leads to the development of metabolic syndrome that increases cardiovascular disease risk. The underlying mechanisms by which androgen/AR signaling regulates metabolic homeostasis in men are complex, and in this review, we discuss molecular mechanisms mediated by AR signaling that link ADT to metabolic syndrome. Results derived from various AR knockout mouse models reveal tissue-specific AR signaling that is involved in regulation of metabolism. These data suggest that steps be taken early to manage metabolic complications associated with PCa patients receiving ADT, which could be accomplished using tissue-selective modulation of AR signaling and by treatment with insulin-sensitizing agents. PMID:25249645

  8. Updates on the myo-inositol plus D-chiro-inositol combined therapy in polycystic ovary syndrome.

    PubMed

    Unfer, Vittorio; Porcaro, Giuseppina

    2014-09-01

    Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders affecting women of reproductive age. It is characterized by chronic anovulation, hyperandrogenism, and insulin resistance. It is the main cause of infertility due to the menstrual dysfunction and metabolic disorders. Women with PCOS also have an increased cardiovascular risk because of dyslipidemia and insulin resistance. So far, we have a lot of information about the etiology of PCOS, and many steps forward have been made about the diagnosis of this syndrome, but there is still no certainty about the therapy. Myo-inositol (MI) and D-chiro-inositol, two inositol stereoisomers, have been proven to be effective in PCOS treatment. However, only MI has been shown to have beneficial effects on reproductive function, whereas the administration of MI/D-chiro-inositol, in the physiological plasma ratio (i.e., 40:1) ensures better clinical results, such as the reduction of insulin resistance, androgens' blood levels, cardiovascular risk and regularization of menstrual cycle with spontaneous ovulation. PMID:24898153

  9. From GnRH to SSRIs and Beyond: Weighing the Options for Drug Therapy in Premenstrual Syndrome.

    PubMed

    Mortola

    1997-10-01

    Pharmacologic intervention is now the most effective therapy available for treating premenstrual syndrome (PMS). Although there are still no Food and Drug Administration-approved medications for this indication, several well-designed studies have been conducted, the results of which may guide the clinician's treatment of women with this disorder. Consequently, less-proven nonpharmacologic modalities, such as dietary modification, exercise regimens, and psychotherapy, are more readily supplanted by the use of medication. Three classes of agents have been shown to have varying degrees of effectiveness in relieving PMS symptoms and are increasingly being used to treat the disorder: gonadotropin-releasing hormone (GnRH) agonists, benzodiazepines, and selective serotonin reuptake inhibitors (SSRIs). While the GnRH agonists like leuprolide acetate, nafarelin acetate, or goserelin acetate have been shown to be highly effective in select cases, their side effects relegate them to use in patients who are unresponsive to other agents. More recently, the benefits of alprazolam (a benzodiazepine) and the SSRIs (especially fluoxetine) have been definitively established. In addition to these medications used to treat premenstrual syndrome in general, other drugs that are used to treat specific aspects of the disorder include danazol for headaches and spironolactone for fluid retention. PMID:9746708

  10. Corticosteroid Therapy for Management of Hemolysis, Elevated Liver Enzymes, and Low Platelet Count (HELLP) Syndrome: A Meta-Analysis.

    PubMed

    Mao, Minhong; Chen, Chen

    2015-01-01

    BACKGROUND Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is a severe condition of pregnancy that is associated with significant morbidity and mortality. Corticoteroid (CORT) therapy is common in the management of HELLP syndrome. This study evaluates the efficacy of CORT therapy to patients with HELLP Syndrome. MATERIAL AND METHODS A literature search was carried out in multiple electronic databases. Meta-analyses of means difference and odds ratio were carried under the random-effects model. RESULTS Fifteen studies (675 CORT treated and 787 control HELLP patients) were included. CORT treatment significantly improved platelet count (mean difference between CORT treated and controls in changes from baseline, MD: 38.08 [15.71, 60.45]×109; p=0.0009), lactic dehydrogenase (LDH) levels (MD: -440 [-760, -120] IU/L; p=0.007), and alanine aminotransferase (ALT) levels (MD: -143.34 [-278.69, -7.99] IU/L; p=0.04) but the decrease in aspartate aminotransferase (AST) levels was not statistically significant (MD: -48.50 [-114.32, 17.32] IU/L; p=0.15). Corticosteroid treatment was also associated with significantly less blood transfusion rate (odds ratio, OR: 0.42 [0.24, 0.76]; p=0.004) and hospital/ICU stay (MD: -1.79 [-3.54, -0.05] days; p=0.04). Maternal mortality (OR: 1.27 [0.45, 3.60]; p=0.65), birth weight (MD: 0.09 [-0.11, 0.28]; p=0.38) and the prevalence of morbid conditions (OR: 0.79 [0.58, 1.08]; p=0.14) did not differ significantly between both groups. CONCLUSIONS Corticosteroid administration to HELLP patients improves platelet count, and the serum levels of LDH and ALT, and reduces hospital/ICU stay and blood transfusion rate, but is not significantly associated with better maternal mortality and overall morbidity. PMID:26633822

  11. Corticosteroid Therapy for Management of Hemolysis, Elevated Liver Enzymes, and Low Platelet Count (HELLP) Syndrome: A Meta-Analysis

    PubMed Central

    Mao, Minhong; Chen, Chen

    2015-01-01

    Background Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is a severe condition of pregnancy that is associated with significant morbidity and mortality. Corticoteroid (CORT) therapy is common in the management of HELLP syndrome. This study evaluates the efficacy of CORT therapy to patients with HELLP Syndrome. Material/Methods A literature search was carried out in multiple electronic databases. Meta-analyses of means difference and odds ratio were carried under the random-effects model. Results Fifteen studies (675 CORT treated and 787 control HELLP patients) were included. CORT treatment significantly improved platelet count (mean difference between CORT treated and controls in changes from baseline, MD: 38.08 [15.71, 60.45]×109; p=0.0009), lactic dehydrogenase (LDH) levels (MD: ?440 [?760, ?120] IU/L; p=0.007), and alanine aminotransferase (ALT) levels (MD: ?143.34 [?278.69, ?7.99] IU/L; p=0.04) but the decrease in aspartate aminotransferase (AST) levels was not statistically significant (MD: ?48.50 [?114.32, 17.32] IU/L; p=0.15). Corticosteroid treatment was also associated with significantly less blood transfusion rate (odds ratio, OR: 0.42 [0.24, 0.76]; p=0.004) and hospital/ICU stay (MD: ?1.79 [?3.54, ?0.05] days; p=0.04). Maternal mortality (OR: 1.27 [0.45, 3.60]; p=0.65), birth weight (MD: 0.09 [?0.11, 0.28]; p=0.38) and the prevalence of morbid conditions (OR: 0.79 [0.58, 1.08]; p=0.14) did not differ significantly between both groups. Conclusions Corticosteroid administration to HELLP patients improves platelet count, and the serum levels of LDH and ALT, and reduces hospital/ICU stay and blood transfusion rate, but is not significantly associated with better maternal mortality and overall morbidity. PMID:26633822

  12. [The application of combined physical therapy for the treatment of women with pelvic pain syndrome].

    PubMed

    Tkachenko, L V; Ra?gorodski?, Iu M; Tarasenko, Iu N; Tikhaeva, K Iu; Kurushina, O V

    2011-01-01

    A total of 98 women presenting with pelvic pain syndrome of different etiology (inflammatory diseases of small pelvic organs following surgical interventions, dysmenorrhoea, ovulatory syndrome) were enrolled in this study with an object of estimating the efficacy of the combined central and local application of physiotherapeutic techniques. An AVIM-1 apparatus was used to cause vibration in and apply a magnetic field to the perineal region. Transcranial magnetotherapy and electrostimulation were applied centrally using an AMO-ATOS-E device. The study has demonstrated that the combined central and local application of physiotherapeutic techniques supplemented by medicamental treatment according to the indications made it possible to attenuate pain syndrome by 64.6% and improve the vegetative nervous function and cerebral blood circulation by 30% and 18% respectively compared with the women in the control group. Moreover, the 1.5-2-fold improvement of the main characteristics of microcirculation was achieved. The overall resistance increased under the influence of physiotherapy in 71% of the women which promoted their reproductive potential and enhanced the probability of pregnancy. PMID:22403954

  13. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

    PubMed Central

    Scarpa, Maurizio; Beck, Michael; Bodamer, Olaf A.; De Meirleir, Linda; Guffon, Nathalie; Meldgaard Lund, Allan; Malm, Gunilla; Van der Ploeg, Ans T.; Zeman, Jiri

    2007-01-01

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade. Until recently, there has been no effective therapy for MPS II, and care has been palliative. Enzyme replacement therapy (ERT) with recombinant human iduronate-2-sulphatase (idursulfase), however, has now been introduced. Weekly intravenous infusions of idursulfase have been shown to improve many of the signs and symptoms and overall wellbeing in patients with MPS II. This paper provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS II and provides recommendations for the use of ERT. The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease. PMID:18038146

  14. A case of transfusion independence in a patient with myelodysplastic syndrome using deferasirox, sustained for two years after stopping therapy

    PubMed Central

    Sanford, D.; Hsia, C.C.

    2015-01-01

    Patients with myelodysplastic syndrome (mds) experience clinical complications related to progressive marrow failure and have an increased risk of developing acute myeloid leukemia. Frequent red blood cell transfusion can lead to clinical iron overload and is associated with decreased survival in mds patients. Iron chelation therapy reduces markers of iron overload and prevents end-organ damage. Here, we present the case of a patient with low-risk mds with transfusional iron overload. He was treated for 2 years with an oral iron chelator, deferasirox, and after 12 months of treatment, he experienced a hemoglobin increase of more than 50 g/L, becoming transfusion-independent. He has remained transfusion-independent, with a normal hemoglobin level, for more than 2 years since stopping chelation therapy. Hematologic and erythroid responses have previously been reported in mds patients treated with iron chelation. The durability of our patient’s response suggests that iron chelation might alter the natural history of mds in some patients. PMID:25908918

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

    PubMed

    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. PMID:24136903

  16. A case of transfusion independence in a patient with myelodysplastic syndrome using deferasirox, sustained for two years after stopping therapy.

    PubMed

    Sanford, D; Hsia, C C

    2015-04-01

    Patients with myelodysplastic syndrome (mds) experience clinical complications related to progressive marrow failure and have an increased risk of developing acute myeloid leukemia. Frequent red blood cell transfusion can lead to clinical iron overload and is associated with decreased survival in mds patients. Iron chelation therapy reduces markers of iron overload and prevents end-organ damage. Here, we present the case of a patient with low-risk mds with transfusional iron overload. He was treated for 2 years with an oral iron chelator, deferasirox, and after 12 months of treatment, he experienced a hemoglobin increase of more than 50 g/L, becoming transfusion-independent. He has remained transfusion-independent, with a normal hemoglobin level, for more than 2 years since stopping chelation therapy. Hematologic and erythroid responses have previously been reported in mds patients treated with iron chelation. The durability of our patient's response suggests that iron chelation might alter the natural history of mds in some patients. PMID:25908918

  17. Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

    PubMed Central

    Connell, MT; Owen, CM; Segars, JH

    2014-01-01

    Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression. PMID:25506511

  18. Phase I trial of low-dose oral Clofarabine in myelodysplastic syndromes patients who have failed frontline therapy.

    PubMed

    Rudrapatna, Venkatesh K; Morley, Kimberly; Boucher, Kenneth M; Pierson, Andrew S; Shull, Christian T; Kushner, James P; Shami, Paul J

    2015-08-01

    We investigated protracted low-dose oral Clofarabine for the treatment of myelodysplastic syndromes (MDS). Adults with an International Prognostic Scoring System (IPSS) score of INT-1 or higher who had failed first line therapy were eligible. INT-1 patients had to be transfusion-dependent. We started with oral Clofarabine at 5mg (fixed dose) daily for 10 consecutive days on a 28-day cycle. Toxicity prompted a modification to 1mg PO daily for 10 days and then 1mg PO daily for 7 days. Patients received treatment indefinitely until loss of response or unacceptable toxicity. Nine patients (5 women) were enrolled and evaluable (median age 65 years; range 55-81). A 10-day regimen of oral Clofarabine at 5mg/day induced Grade IV pancytopenia. A dose of 1 mg/day for 7/28 days was very well tolerated without significant toxicity. Three patients had responses (2 with responses lasting up to 21 and 51 cycles) defined as stable disease in spite of no significant change on bone marrow evaluation. Low-dose oral Clofarabine (1mg daily for 7/28 days) proved both effective and safe for patients with MDS who had failed prior therapy. This patient population is particularly sensitive to more protracted Clofarabine treatment schedules. PMID:26038120

  19. [Morita therapy--a Japanese method for treating neurotic anxiety syndrome].

    PubMed

    Watanabe, N; Machleidt, W

    2003-11-01

    In Japan, the traditional Morita therapy is indicated for "shinkaishitsu" personalities, i.e., patients with neurotic anxiety disorder, especially with phobic and hypochondriac symptoms. The substantial theoretical basis and therapeutic principles were taken from Zen Buddhism, such as the development of the ego in the "space" between subject and object, the unity of body and soul, the distinction of inner and outer nature, and the principles of emptiness and nothingness. The treatment consists of an initial 7-day period of strict and isolated rest in bed followed by step-by-step occupational therapy and final reintegration into job and family. The founder of this therapy, Morita, sees the healing of the patients not in the removal of their fears but in the inner acceptance (arugamama) of the fears they have experienced--corresponding to an essential principle in Zen Buddhism. Nowadays, the method is used in a modified form adjusted to the change in mentality of Japanese patients. PMID:14598041

  20. Case report of exercise and statin-fibrate combination therapy-caused myopathy in a patient with metabolic syndrome: contradictions between the two main therapeutic pathways

    PubMed Central

    2013-01-01

    Background Lifestyle modifications including exercise are beneficial and fundamentally part of the therapy of metabolic syndrome, although in most of the cases medical interventions are also required to reach the target values in the laboratory parameters. Statin and fibrate combination therapy is considered to be safe and effective in dyslipidaemia and metabolic syndrome. However, increased physical activity can enhance the statin and fibrate-associated myopathy. Myositis and the rare but life-threatening rhabdomyolysis are causing a conflict between exercise and statin-fibrate therapy, which is yet to be resolved. Case presentation We present a case of a 43-year-old Caucasian man with metabolic syndrome who had the side-effect of exercise and drug-associated myositis. The patient had only transient moderate complaints and rhabdomyolysis could be avoided with the one-month creatine kinase control, a test which is not recommended routinely by the new guidelines. Conclusions We would like to turn the spotlight on the possible complications of statin-fibrate therapy and exercise, when strict follow-up is recommended. In this condition high number of patients can be affected and the responsibility of general practitioners is accentuated. PMID:23388500

  1. 17/09/09 18:50NetLogo User's Guide Page 1 sur 10file:///Users/jost/Documents/enseignement/lectures/Cours+TD%20AutomateCellulaire/NetLogo%20tutorial/firefly-tutorial.html

    E-print Network

    Jost, Christian

    :///Users/jost/Documents/enseignement/lectures/Cours+TD%20AutomateCellulaire/NetLogo%20tutorial/firefly-tutorial.html NetLogo User's Guide Programming Tutorial for synchronizing fireflies (adapted from the official tutorial) NetLogo is a freeware program:///Users/jost/Documents/enseignement/lectures/Cours+TD%20AutomateCellulaire/NetLogo%20tutorial/firefly-tutorial.html They now moved forward 10 steps. You

  2. Fragile X Syndrome.

    ERIC Educational Resources Information Center

    de la Cruz, Felix F.

    1985-01-01

    Physical, psychological, and cytogenic characteristics of individuals with the Fragile X syndrome are reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygote for the marker X, and unresolved issues about the syndrome are discussed. (CL)

  3. [Special training therapy to reduce inflammation in Anti-Jo-1 syndrome].

    PubMed

    Greulich, T; Müller, S; Fechtel, J; Nell, C; Holland, A; Bach, J P; Tackenberg, B; Schubert, H; Kenn, K; Vogelmeier, C; Koczulla, A R

    2011-10-01

    A 46-year-old patient was frequently seen with a medically treated Anti-Jo-1 syndrome. The patient had already been treated with azathioprine and oral corticosteroids on account of decreasing lung function, dyspnoea, fatigue, and beginning signs of myositis. Although high doses of steroids and azathioprine were administered, the muscleskeletal syndromes increased steadily. The patient used to be an active long-distance runner (20 km), but now was unable to perform that kind of physical exercise. It was decided to start a treatment with the GalileoTM training device for active muscle training of the lower extremities. Before and after three months of training the following assessment was performed: measurement of health-related quality of life (St. Georges respiratory questionnaire, SGRQ), ultrasound measurement of the cross-sectional area of the quadriceps muscle, 6 minute walk test (6 MWT), lung function testing, and assessment of serum markers of inflammation (TNF-alpha, interleukin-8, CRP, CK, myoglobin). After only two months, training with the GalileoTM five times a week has improved the patient's conditions dramatically. The training will be continued. PMID:21866491

  4. B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome

    PubMed Central

    Castiello, Maria Carmina; Scaramuzza, Samantha; Pala, Francesca; Ferrua, Francesca; Uva, Paolo; Brigida, Immacolata; Sereni, Lucia; van der Burg, Mirjam; Ottaviano, Giorgio; Albert, Michael H.; Grazia Roncarolo, Maria; Naldini, Luigi; Aiuti, Alessandro; Villa, Anna; Bosticardo, Marita

    2015-01-01

    Background Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and susceptibility to autoimmunity and lymphomas. Hematopoietic stem cell transplantation is the treatment of choice; however, administration of WAS gene–corrected autologous hematopoietic stem cells has been demonstrated as a feasible alternative therapeutic approach. Objective Because B-cell homeostasis is perturbed in patients with WAS and restoration of immune competence is one of the main therapeutic goals, we have evaluated reconstitution of the B-cell compartment in 4 patients who received autologous hematopoietic stem cells transduced with lentiviral vector after a reduced-intensity conditioning regimen combined with anti-CD20 administration. Methods We evaluated B-cell counts, B-cell subset distribution, B cell–activating factor and immunoglobulin levels, and autoantibody production before and after gene therapy (GT). WAS gene transfer in B cells was assessed by measuring vector copy numbers and expression of Wiskott-Aldrich syndrome protein. Results After lentiviral vector-mediated GT, the number of transduced B cells progressively increased in the peripheral blood of all patients. Lentiviral vector-transduced progenitor cells were able to repopulate the B-cell compartment with a normal distribution of B-cell subsets both in bone marrow and the periphery, showing a WAS protein expression profile similar to that of healthy donors. In addition, after GT, we observed a normalized frequency of autoimmune-associated CD19+CD21?CD35? and CD21low B cells and a reduction in B cell–activating factor levels. Immunoglobulin serum levels and autoantibody production improved in all treated patients. Conclusions We provide evidence that lentiviral vector-mediated GT induces transgene expression in the B-cell compartment, resulting in ameliorated B-cell development and functionality and contributing to immunologic improvement in patients with WAS. PMID:25792466

  5. Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea

    PubMed Central

    Onda, Nobuto; Chiba, Shintaro; Moriwaki, Hiroto; Sawai, Rika; Yoshigoe, Akira; Watanabe, Subaru; Ando, Yuji; Uchida, Ryo; Miyawaki, Takeshi; Wada, Kota

    2015-01-01

    Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia. We recently encountered a case involving a patient with Apert syndrome complicated by OSA who began to receive continuous positive airway pressure (CPAP) therapy at the age of 4. OSA resolved after maxillofacial surgery performed at the age of 11, and CPAP was eventually withdrawn. In pediatric patients with maxillofacial dysplasia complicated by OSA, a long-term treatment plan including CPAP in addition to maxillofacial plastic and reconstructive surgery should be considered in view of the effects of OSA on growth. PMID:26473084

  6. Long QT syndrome: how effective therapy in a single patient favorably influenced the long-term clinical course and genetic understanding of this hereditary disorder.

    PubMed

    Lowengrub, Katherine M; Moss, Deborah R; Moss, David A; Moss, Arthur J

    2015-01-01

    The story of the long QT syndrome involved a chance interaction that took place in 1957 when Dr. Moss was shown a unique series of ECGs with a prolonged QT interval in a young deaf boy whose recurrent syncope culminated in sudden death. Who could have predicted that this clinical experience would lead to innovative and effective new therapy for a patient with the long QT syndrome several years later and the subsequent formation of the International Long QT Registry? This Registry has stimulated interactions among and between patients and physicians and has enhanced collaborations involving clinical, genetic, and basic-science investigators. The net result has been a significant improvement in the diagnosis, treatment, and outcome of patients with the long QT syndrome and an overall advancement in the science of medicine - two of the many satisfactions that physicians can experience in the clinical practice of medicine. PMID:26247496

  7. Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea.

    PubMed

    Onda, Nobuto; Chiba, Shintaro; Moriwaki, Hiroto; Sawai, Rika; Yoshigoe, Akira; Watanabe, Subaru; Ando, Yuji; Uchida, Ryo; Miyawaki, Takeshi; Wada, Kota

    2015-01-01

    Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia. We recently encountered a case involving a patient with Apert syndrome complicated by OSA who began to receive continuous positive airway pressure (CPAP) therapy at the age of 4. OSA resolved after maxillofacial surgery performed at the age of 11, and CPAP was eventually withdrawn. In pediatric patients with maxillofacial dysplasia complicated by OSA, a long-term treatment plan including CPAP in addition to maxillofacial plastic and reconstructive surgery should be considered in view of the effects of OSA on growth. PMID:26473084

  8. Antiplatelet therapy in patients with diabetes mellitus and acute coronary syndrome.

    PubMed

    Patti, Giuseppe; Proscia, Claudio; Di Sciascio, Germano

    2014-01-01

    Patients with diabetes mellitus have increased atherothrombotic risk and elevated rates of recurrent cardiac events, which may be in part attributable to abnormalities of platelet function resulting in increased platelet reactivity. Despite improved clinical outcomes with an antiplatelet strategy of aspirin plus clopidogrel in patients with acute coronary syndrome (ACS), diabetic patients continue to experience relatively high rates of adverse events during follow-up. Thus, strategies using more potent antiplatelet drugs are warranted in diabetic patients with ACS, especially in the presence of an increased coronary angiographic risk profile. The relative benefit of prasugrel has been described as higher in diabetic vs. nondiabetic patients, without increase in the bleeding risk, whereas a reduction in ischemic events was similar with ticagrelor in patients with and without diabetes. Glycoprotein IIb/IIIa inhibitors are indicated in high-risk patients with ACS, but diabetic patients do not benefit from routine administration of such agents. PMID:24334561

  9. Generation of a lentiviral vector producer cell clone for human Wiskott-Aldrich syndrome gene therapy

    PubMed Central

    Wielgosz, Matthew M; Kim, Yoon-Sang; Carney, Gael G; Zhan, Jun; Reddivari, Muralidhar; Coop, Terry; Heath, Richard J; Brown, Scott A; Nienhuis, Arthur W

    2015-01-01

    We have developed a producer cell line that generates lentiviral vector particles of high titer. The vector encodes the Wiskott-Aldrich syndrome (WAS) protein. An insulator element has been added to the long terminal repeats of the integrated vector to limit proto-oncogene activation. The vector provides high-level, stable expression of WAS protein in transduced murine and human hematopoietic cells. We have also developed a monoclonal antibody specific for intracellular WAS protein. This antibody has been used to monitor expression in blood and bone marrow cells after transfer into lineage negative bone marrow cells from WAS mice and in a WAS negative human B-cell line. Persistent expression of the transgene has been observed in transduced murine cells 12–20 weeks following transplantation. The producer cell line and the specific monoclonal antibody will facilitate the development of a clinical protocol for gene transfer into WAS protein deficient stem cells. PMID:26052531

  10. Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality.

    PubMed

    Gerber, Angela; Kirchhoff-Moradpour, Antje H; Obieglo, Silke; Brandis, Matthias; Kirschfink, Michael; Zipfel, Peter F; Goodship, Judith A; Zimmerhackl, Lothar B

    2003-09-01

    We report a patient with continuously recurring hemolytic-uremic syndrome due to factor H deficiency. First at the age of 3 months he showed signs of hemolytic anemia, thrombocytopenia and renal insufficiency, often recurring concomitantly with respiratory tract infections, despite weekly to twice weekly plasma substitution (20 ml/kg body weight). Now at the age of 3.5 years glomerular filtration rate is approximately 50 ml/min/1.73 m(2) and psychomotoric development is normal. Since factor H is mainly synthesized in the liver, hepatic transplantation has been proposed as curative treatment. Before justification of liver transplantation as the ultimate treatment for these patients, an international registry should be developed to optimize and standardize therapeutic alternatives. PMID:12836093

  11. Efficacy and safety of optimized antithrombotic therapy with aspirin, clopidogrel and enoxaparin in patients with non-ST segment elevation acute coronary syndromes in clinical practice.

    PubMed

    Heer, Tobias; Juenger, Claus; Gitt, Anselm K; Bauer, Timm; Towae, Frank; Zahn, Ralf; Senges, Jochen; Zeymer, Uwe

    2009-10-01

    In randomized clinical trials enoxaparin in non ST-elevation acute coronary syndromes (NSTE-ACS) has been shown to be more effective than unfractionated heparin in preventing the combined endpoint of death and myocardial infarction. Clopidogrel in combination with aspirin reduced the combined endpoint of death, myocardial infarction and stroke in NSTE-ACS patients compared to aspirin alone. Aim of the present study was to determine the clinical impact of optimized antithrombotic therapy with enoxaparin, clopidogrel and aspirin compared to standard therapy with unfractionated heparin (UFH) and aspirin in NSTE-ACS in clinical practice. We analyzed data of 2,956 consecutive patients with NSTE-ACS and either antithrombotic therapy with enoxaparin, clopidogrel and aspirin or with aspirin and UFH, which were prospectively enrolled in the acute coronary syndromes registry (ACOS) from July 2000 until the end of November 2002. After adjustment for baseline characteristics and PCI the combined endpoint of hospital death and non-fatal reinfarctions was lower in the group with optimized antithrombotic therapy including clopidogrel, enoxaparin and aspirin compared to the control-group with aspirin and UFH (odds ratio 0.30, 95% confidence interval 0.16-0.53). There was no significant difference in major bleedings between the two treatment groups (1.5% vs. 0.9%, P = 0.35), while overall there were more bleeding complications in the group with optimized antithrombotic therapy (4.9% vs. 2.0%, P = 0.005). In clinical practice optimized antithrombotic therapy with aspirin, clopidogrel and enoxaparin in NSTE-ACS is associated with a reduction in the combined endpoint of death and non-fatal reinfarctions compared to standard therapy with aspirin and UFH without increase in major bleeding complications. PMID:19101783

  12. The Effect of Hormone Replacement Therapy on Dry Eye Syndrome Evaluated with Schirmer Test and Break-Up Time

    PubMed Central

    Feng, Yanhong; Feng, Gang; Peng, Shuli; Li, Hui

    2015-01-01

    Hormone replacement therapy (HRT) for dry eye syndrome (DES) is controversial in clinical practice. The goal of this study was to review relevant studies and analyze the pooled data to determine whether HRT is effective for DES. In this study, a literature search of PubMed, Embase, and Cochrane databases up to May 2015 was performed, with the search restricted to English language publications. The studies were screened after reading the abstract and full text. Only studies related to the effect of HRT on DES were included in the meta-analysis. Results of Schirmer tests with and without anesthetics and tear break-up time (BUT) values data were extracted and entered into RevMan software to meta-analyze the overall effect of HRT on DES. A total of 43 studies were identified, and 21 of these studies were found to be related to the effect of HRT on DES. Ultimately, 5 studies were included in the final meta-analysis. The pooled results revealed that HRT can affect Schirmer test results without anesthetics but does not affect Schirmer test results with anesthetics and BUT. The results indicate that HRT might improve DES symptoms when measuring basal tear production without anesthesia. PMID:26664737

  13. Pulsed vs. CW low level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome)

    NASA Astrophysics Data System (ADS)

    Barolet, Daniel

    2012-03-01

    Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasias. The transforming growth factor beta (TGF-?) has been identified has a major player in the pathogenic process, while low level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940nm using microsecond domain pulsing and continuous wave mode (CW) on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks, using a sequential pulsing mode on one elbow, and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, and health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Significant functional and morphologic improvements were observed after LLLT, with best results seen with the pulsing mode. No significant adverse effects were noted. Two mechanisms of action may be at play. The 940nm wavelength provides inside-out heating possibly vasodilating capillaries which in turn increases catabolic processes leading to a reduction of in situ calcinosis. LLLT may also improve symptoms by triggering a cascade of cellular reactions, including the modulation of inflammatory mediators.

  14. Guillain Barré Syndrome in a multiple myeloma patient after the first course of bortezomib therapy: A case report

    PubMed Central

    DAI, XINGBIN; SUN, XUEMEI; NI, HAIWEN; ZHU, XUEJUN

    2015-01-01

    Bortezomib is approved for treating relapsed multiple myeloma (MM) and mantle cell lymphoma, and clinical evidence has shown complete clinical responses in MM patients. Peripheral neuropathy is one of the most common adverse effects of bortezomib. However, rare evidence has shown that bortezomib is associated with Guillain-Barré syndrome (GBS). In the present study, a case of GBS is reported in an MM patient finishing the first course of bortezomib therapy. Based on a bone marrow cell examination revealing 34% plasma cell infiltration and according to the International Staging System, the patient was diagnosed with stage III MM (? type). Thus, a chemotherapy protocol was performed, which consisted of bortezomib and dexamethasone. However, 5 days after the first cycle, paresthesias of the upper and lower limbs developed. Standard nerve conduction studies revealed marked reduction of the motor conduction velocity of the median nerve bilaterally and of the right ulnar nerve, while sensory conduction was significantly slowed in the majority of the nerves of the upper and lower limbs. However, there was no evidence of demyelination. With this clinical evidence, a diagnosis of GBS was considered. The patient was subsequently treated with high-dose intravenous immunoglobulins (IVIGs; 400 mg/kg/day for 5 days). Following IVIG treatment, the symptoms were largely relieved. This study suggested that GBS may occur when administering bortezomib, and that high-dose IVIGs could treat the symptoms of GBS. PMID:26722290

  15. [Syndromes 12. Turner syndrome].

    PubMed

    Verdonck, A; van Erum, R

    1999-07-01

    Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan. PMID:11930372

  16. Evolution of iron overload in patients with low-risk myelodysplastic syndrome: iron chelation therapy and organ complications.

    PubMed

    Remacha, Ángel F; Arrizabalaga, Beatriz; Villegas, Ana; Durán, María Soledad; Hermosín, Lourdes; de Paz, Raquel; Garcia, Marta; Diez Campelo, Maria; Sanz, Guillermo

    2015-05-01

    This study aimed to evaluate the evolution of iron overload, assessed by serum ferritin (SF), in transfusion-dependent lower risk patients with myelodysplastic syndrome (MDS), as well as to describe the occurrence of organ complications, and to analyze its relationship with iron chelation therapy. This observational retrospective study was conducted from March 2010 to March 2011 in 47 Spanish hospitals. A total of 263 patients with lower risk MDS (International Prognostic Scoring System [IPSS] low/intermediate-1 risk or Spanish Prognostic Index [SPI] 0-1 risk), transfusion-dependent, and who had received ?10 packed red blood cells (PRBC) were included. At MDS diagnosis, patients received a mean of 2.8?±?3.9 PRBC/month, and 8.7% of patients showed SF ?1000 ?g/L. Over the course of the disease, patients received a mean of 83.4?±?83.3 PRBC, and 36.1% of patients presented SF ?2500 ?g/L. Cardiac, hepatic, endocrine, or arthropathy complications appeared/worsened in 20.2, 11.4, 9.9, and 3.8% of patients, respectively. According to investigator, iron overload was a main cause of hepatic (70.0%) and endocrine (26.9%) complications. A total of 96 (36.5%) patients received iron chelation therapy for ?6 months, being deferasirox the most frequent first chelation treatment (71.9%). Chelation-treated patients showed longer overall survival (p?therapy and provide additional evidence on the deleterious effect of iron overload in lower risk MDS patients. PMID:25516455

  17. Towards a therapy for Angelman syndrome by reduction of a long non-coding RNA

    PubMed Central

    Meng, Linyan; Ward, Amanda J.; Chun, Seung; Bennett, C. Frank; Beaudet, Arthur L.; Rigo, Frank

    2014-01-01

    Angelman syndrome (AS) is a single gene disorder characterized by intellectual disability, developmental delay, behavioral uniqueness, speech impairment, seizures, and ataxia1,2. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase3-5. All patients carry at least one copy of paternal UBE3A, which is intact but silenced by a nuclear-localized long non-coding RNA, UBE3A antisense transcript (UBE3A-ATS)6-8. Murine Ube3a-ATS reduction by either transcription termination or topoisomerase I inhibition increased paternal Ube3a expression9,10. Despite a clear understanding of the disease-causing event in AS and the potential to harness the intact paternal allele to correct disease, no gene-specific treatment exists for patients. Here we developed a potential therapeutic intervention for AS by reducing Ube3a-ATS with antisense oligonucleotides (ASOs). ASO treatment achieved specific reduction of Ube3a-ATS and sustained unsilencing of paternal Ube3a in neurons in vitro and in vivo. Partial restoration of UBE3A protein in an AS mouse model ameliorated some cognitive deficits associated with the disease. Although additional studies of phenotypic correction are needed, for the first time we developed a sequence-specific and clinically feasible method to activate expression of the paternal Ube3a allele. PMID:25470045

  18. Sensitive, reliable and easy-performed laboratory monitoring of eculizumab therapy in atypical hemolytic uremic syndrome.

    PubMed

    Volokhina, Elena B; van de Kar, Nicole C A J; Bergseth, Grethe; van der Velden, Thea J A M; Westra, Dineke; Wetzels, Jack F M; van den Heuvel, Lambertus P; Mollnes, Tom Eirik

    2015-10-01

    Complement C5 inhibitor eculizumab treatment in atypical hemolytic uremic syndrome is effective, but associated with high costs. Complement inhibition monitoring in these patients has not been standardized. In this study we evaluated novel functional assays for application in routine follow-up. We documented that the Wieslab® complement screen assay showed a sensitivity of 1-2% of C5 activity by adding purified C5 or normal human serum to a C5 deficient serum. All the patient samples obtained during the treatment course, were completely blocked for terminal complement pathway activity for up to four weeks after the eculizumab infusion. Levels of complexes between eculizumab and C5 were inversely correlated to the complement activity (p=0.01). Moreover, titrating serum from eculizumab-treated patients into normal serum revealed that eculizumab was present in excess up to four weeks after infusion. Thus, we demonstrate sensitive, reliable and easy-performed assays which can be used to design individual eculizumab dosage regimens. PMID:26111482

  19. Noradrenergic System in Down Syndrome and Alzheimer's Disease A Target for Therapy.

    PubMed

    Phillips, Cristy; Fahimi, Atoossa; Das, Devsmita; Mojabi, Fatemeh S; Ponnusamy, Ravikumar; Salehi, Ahmad

    2016-01-01

    Locus coeruleus (LC) neurons in the brainstem send extensive noradrenergic (NE)-ergic terminals to the majority of brain regions, particularly those involved in cognitive function. Both Alzheimer's disease (AD) and Down syndrome (DS) are characterized by similar pathology including significant LC degeneration and dysfunction of the NE-ergic system. Extensive loss of NE-ergic terminals has been linked to alterations in brain regions vital for cognition, mood, and executive function. While the mechanisms by which NE-ergic abnormalities contribute to cognitive dysfunction are not fully understood, emergent evidence suggests that rescue of NE-ergic system can attenuate neuropathology and cognitive decline in both AD and DS. Therapeutic strategies to enhance NE neurotransmission have undergone limited testing. Among those deployed to date are NE reuptake inhibitors, presynaptic ?-adrenergic receptor antagonists, NE prodrugs, and ?-adrenergic agonists. Here we examine alterations in the NE-ergic system in AD and DS and suggest that NE-ergic system rescue is a plausible treatment strategy for targeting cognitive decline in both disorders. PMID:26391048

  20. Constipation-predominant irritable bowel syndrome: A review of current and emerging drug therapies

    PubMed Central

    Jadallah, Khaled A; Kullab, Susan M; Sanders, David S

    2014-01-01

    Irritable bowel syndrome (IBS) is a highly prevalent medical condition that adversely affects patient quality of life and constitutes a significant economic burden on healthcare resources. A large proportion of patients suffer from the constipation subtype of IBS (IBS-C), most commonly afflicting older individuals and those with a lower socioeconomic status. Conventional pharmacologic and nonpharmacologic treatment options have limited efficacies and/or significant adverse events, which lead to increased long-term health care expenditures. Failure to effectively treat IBS-C patients over the past decades has largely been due to a poor understanding of disease pathophysiology, lack of a global view of the patient, and an inappropriate selection of patients and treatment endpoints in clinical trials. In recent years, however, more effective and safer drugs have been developed for the treatment of IBS-C. The advancement in the area of pharmacologic treatment is based on new knowledge of the pathophysiologic basis of IBS-C and the development of drugs with increased selectivity within pharmacologic classes with recognized efficacies. This narrative review covers the spectrum of available drugs and their mechanisms of action, as well as the efficacy and safety profiles of each as determined in relevant clinical trials that have investigated treatment options for IBS-C and chronic constipation. A brief summary of laxative-based treatment options is presented, followed by up-to-date assessments for three classes of drugs: prokinetics, prosecretory agents, and bile acid modulators. PMID:25083062

  1. Constipation-predominant irritable bowel syndrome: a review of current and emerging drug therapies.

    PubMed

    Jadallah, Khaled A; Kullab, Susan M; Sanders, David S

    2014-07-21

    Irritable bowel syndrome (IBS) is a highly prevalent medical condition that adversely affects patient quality of life and constitutes a significant economic burden on healthcare resources. A large proportion of patients suffer from the constipation subtype of IBS (IBS-C), most commonly afflicting older individuals and those with a lower socioeconomic status. Conventional pharmacologic and nonpharmacologic treatment options have limited efficacies and/or significant adverse events, which lead to increased long-term health care expenditures. Failure to effectively treat IBS-C patients over the past decades has largely been due to a poor understanding of disease pathophysiology, lack of a global view of the patient, and an inappropriate selection of patients and treatment endpoints in clinical trials. In recent years, however, more effective and safer drugs have been developed for the treatment of IBS-C. The advancement in the area of pharmacologic treatment is based on new knowledge of the pathophysiologic basis of IBS-C and the development of drugs with increased selectivity within pharmacologic classes with recognized efficacies. This narrative review covers the spectrum of available drugs and their mechanisms of action, as well as the efficacy and safety profiles of each as determined in relevant clinical trials that have investigated treatment options for IBS-C and chronic constipation. A brief summary of laxative-based treatment options is presented, followed by up-to-date assessments for three classes of drugs: prokinetics, prosecretory agents, and bile acid modulators. PMID:25083062

  2. Therapy in endocrine disease: treatment of hirsutism in the polycystic ovary syndrome.

    PubMed

    Pasquali, Renato; Gambineri, Alessandra

    2014-02-01

    Hirsutism is a common medical complaint among women of reproductive age, and it affects the majority of women with the polycystic ovary syndrome (PCOS). Increased rate of androgen production and its availability in tissue represent the main pathophysiological mechanisms responsible for hirsutism. In addition, androgens may be generated de novo in the hair follicle; therefore, circulating androgen levels do not quantify the real exposure of the hair follicle to androgens, as a quota is locally generated. Hirsutism is a clinical sign and not a disease in itself; its presence does not therefore necessarily require treatment, particularly in mild-to-moderate forms, and when an affected woman does not worry about it. Physicians should decide whether hirsutism is to be treated or not by evaluating not only the severity of the phenomenon but also the subjective perception of the patient, which does not necessarily correspond to the true extent of hair growth. In any case, a physician should manage a woman with hirsutism only on the basis of a diagnosis of the underlying cause, and after a clear explanation of the efficacy of each therapeutic choice. Cosmetic procedures and pharmacological intervention are commonly used in the treatment of hirsutism and are discussed in this paper. Importantly, there are different phenotypes of women with hirsutism and PCOS that may require specific attention in the choice of treatment. In particular, when obesity is present, lifestyle intervention should be always considered, and if necessary combined with pharmacotherapy. PMID:24272197

  3. What is the value of growth hormone therapy in Prader Willi syndrome?

    PubMed

    Bridges, Nicola

    2014-02-01

    Prader Willi syndrome (PWS) is a genetic condition caused by loss of the paternal copy of a region of imprinted genes on chromosome 15. There is severe muscular hypotonia in the neonatal period, with the onset of hyperphagia and food-seeking behaviour in childhood. All individuals with PWS have developmental delay. Without careful control of food intake and the food environment, individuals with PWS become morbidly obese and are likely to die as young adults from the complications of obesity. The aims of growth hormone (GH) treatment in PWS are distinct from the use of GH in other conditions-although GH does increase final height in PWS, the main benefits of treatment are improved body composition and better exercise capacity, which can help with the aim of preventing obesity. GH trials in PWS have demonstrated improved muscle bulk, reduced fat mass and increased levels of physical activity. GH has also been demonstrated to improve attainment of developmental and cognitive milestones in children with PWS. GH treatment appears to change respiratory status in PWS, possibly because of growth of lymphoid tissue at the start of treatment. Respiratory assessment is recommended prior to, and just after starting GH treatment. Ideal age for starting GH is not clear, although there has been a trend towards starting at younger ages. It may be that GH treatment in childhood confers benefits into adult life. There are less data to support continuing GH treatment into adult life. PMID:24162007

  4. Extended Neuralgic Amyotrophy Syndrome: voice therapy in one case of vocal fold paralysis.

    PubMed

    Oliveira, Andréa Gomes de; Pinho, Márcia Monteiro

    2014-01-01

    Neuralgic Amyotrophy (NA) is a rare disturb of the peripheral nervous system that can include extreme pain, multifocal paresis and atrophy of the muscles of the upper limbs. When the nerves located outside of the brachial plexus are involved, the term Neuralgic Amyotrophy Extended (ANE) is used. Diagnosis of NA is clinical and has a series of inclusion and compatibility criteria established by the European CMT Consortium. On this study the clinical history, multidimensional vocal assessment data and the vocal techniques used in five-weeks voice therapy for one patient, professional voice, with ANE are presented. In this case, sudden and recurrent paralysis of his right vocal fold was the only manifestation of the disease. At the end of the fifth week the patient's voice was normal, the spoken and sung vocal ranges were same as before the current episode of ANE and scores of his vocal self-assessment were appropriate. PMID:24918513

  5. Catalytic RNA Frank Walter,Institut de Biologie Moleculaire et Cellulaire du CNRS, Strasbourg, France

    E-print Network

    Westhof, Eric

    deficiency syndrome (AIDS)-causing human immunodeficiency virus (HIV) RNA, to silencing ofcarcinogenic al., 2000). Ribozymes need to acquire three-dimensional architec- tures to promote specific substrate RNAs. The therapeutic applications range from cleavage of viral RNAs, like the acquired immune

  6. Astrocyte Glutamine Synthetase: Importance in Hyperammonemic Syndromes and Potential Target for Therapy

    PubMed Central

    Brusilow, Saul W.; Koehler, Raymond C.; Traystman, Richard J.; Cooper, Arthur J. L.

    2010-01-01

    Summary Many theories have been advanced to explain the encephalopathy associated with chronic liver disease and with the less common acute form. A major factor contributing to hepatic encephalopathy is hyperammonemia resulting from portacaval shunting and/or liver damage. However, an increasing number of causes of hyperammonemic encephalopathy have been discovered that present with the same clinical and laboratory features found in acute liver failure, but without liver failure. Here, we critically review the physiology, pathology, and biochemistry of ammonia (i.e., NH3 plus NH4+) and show how these elements interact to constitute a syndrome that clinicians refer to as hyperammonemic encephalopathy (i.e., acute liver failure, fulminant hepatic failure, chronic liver disease). Included will be a brief history of the status of ammonia and the centrality of the astrocyte in brain nitrogen metabolism. Ammonia is normally detoxified in the liver and extrahepatic tissues by conversion to urea and glutamine, respectively. In the brain, glutamine synthesis is largely confined to astrocytes, and it is generally accepted that in hyperammonemia excess glutamine compromises astrocyte morphology and function. Mechanisms postulated to account for this toxicity will be examined with emphasis on the osmotic effects of excess glutamine (the osmotic gliopathy theory). Because hyperammonemia causes osmotic stress and encephalopathy in patients with normal or abnormal liver function alike, the term “hyperammonemic encephalopathy” can be broadly applied to encephalopathy resulting from liver disease and from various other diseases that produce hyperammonemia. Finally, the possibility that a brain glutamine synthetase inhibitor may be of therapeutic benefit, especially in the acute form of liver disease, is discussed. PMID:20880508

  7. Skeletal findings in the first 12 months following initiation of glucocorticoid therapy for pediatric nephrotic syndrome

    PubMed Central

    Phan, V; Blydt-Hansen, T; Feber, J; Alos, N; Arora, S; Atkinson, S; Bell, L; Clarson, C; Couch, R; Cummings, EA; Filler, G; Grant, RM; Grimmer, J; Hebert, D; Lentle, B; Ma, J; Matzinger, M; Midgley, J; Pinsk, M; Rodd, C; Shenouda, N; Stein, R; Stephure, D; Taback, S; Williams, K; Rauch, F; Siminoski, K; Ward, LM

    2014-01-01

    Introduction Vertebral fracture (VF) incidence following glucocorticoid (GC) initiation has not been previously reported in pediatric nephrotic syndrome. Methods VF were assessed on radiographs (Genant method); lumbar spine bone mineral density (LS BMD) was evaluated by dual-energy x-ray absorptiometry. Results Sixty-five children were followed to 12 months post-GC initiation (median age: 5.4 years, range 2.3 to 17.9). Three of 54 children with radiographs (6%, 95% CI 2 to 15%) had incident VF at 1 year. The mean LS BMD Z-score was below the healthy average at baseline (mean ± SD ?0.5 ± 1.1 p=0.001) and at 3 months (?0.6 ± 1.1 p<0.001), but not at 6 months (?0.3 ± 1.3, p=0.066) or 12 months (?0.3 ± 1.2, p=0.066). Mixed effect modeling showed a significant increase in LS BMD Z-scores between 3 and 12 months (0.22 SD, 95% CI 0.08 to 0.36, p=0.003). A sub-group (N=16; 25%) had LS BMD Z-scores that were ? ?1.0 at 12 months. In these children, each additional 1000 mg/m2 of GC received in the first 3 months was associated with a decrease in LS BMD Z-score by 0.39 at 12 months (95% CI, ?0.71 to ?0.07; p=0.017). Conclusions The incidence of VF at 1 year was low and LS BMD Z-scores improved by 12 months in the majority. Twenty-five percent of children had LS BMD Z-scores ? ?1.0 at 12 months. In these children, LS BMD Z-scores were inversely associated with early GC exposure, despite similar GC exposure compared to the rest of the cohort. PMID:23948876

  8. Irritable bowel syndrome: A disease still searching for pathogenesis, diagnosis and therapy

    PubMed Central

    Bellini, Massimo; Gambaccini, Dario; Stasi, Cristina; Urbano, Maria Teresa; Marchi, Santino; Usai-Satta, Paolo

    2014-01-01

    Irritable bowel syndrome (IBS) is the most frequently diagnosed functional gastrointestinal disorder in primary and secondary care. It is characterised by abdominal discomfort, pain and changes in bowel habits that can have a serious impact on the patient’s quality of life. The pathophysiology of IBS is not yet completely clear. Genetic, immune, environmental, inflammatory, neurological and psychological factors, in addition to visceral hypersensitivity, can all play an important role, one that most likely involves the complex interactions between the gut and the brain (gut-brain axis). The diagnosis of IBS can only be made on the basis of the symptoms of the Rome III criteria. Because the probability of organic disease in patients fulfilling the IBS criteria is very low, a careful medical history is critical and should pay particular attention to the possible comorbidities. Nevertheless, the severity of the patient’s symptoms or concerns sometimes compels the physician to perform useless and/or expensive diagnostic tests, transforming IBS into a diagnosis of exclusion. The presence of alarming symptoms (fever, weight loss, rectal bleeding, significant changes in blood chemistry), the presence of palpable abdominal masses, any recent onset of symptoms in patient aged over 50 years, the presence of symptoms at night, and a familial history of celiac disease, colorectal cancer and/or inflammatory bowel diseases all warrant investigation. Treatment strategies are based on the nature and severity of the symptoms, the degree of functional impairment of the bowel habits, and the presence of psychosocial disorders. This review examines and discusses the pathophysiological aspects and the diagnostic and therapeutic approaches available for patients with symptoms possibly related to IBS, pointing out controversial issues and the strengths and weaknesses of the current knowledge. PMID:25083055

  9. Cognitive behavioural therapy versus multidisciplinary rehabilitation treatment for patients with chronic fatigue syndrome: study protocol for a randomised controlled trial (FatiGo)

    PubMed Central

    2012-01-01

    Background Patients with chronic fatigue syndrome experience extreme fatigue, which often leads to substantial limitations of occupational, educational, social and personal activities. Currently, there is no consensus regarding the treatment. Patients try many different therapies to overcome their fatigue. Although there is no consensus, cognitive behavioural therapy is seen as one of the most effective treatments. Little is known about multidisciplinary rehabilitation treatment, a combination of cognitive behavioural therapy with principles of mindfulness, gradual increase of activities, body awareness therapy and pacing. The difference in effectiveness and cost-effectiveness between multidisciplinary rehabilitation treatment and cognitive behavioural therapy is as yet unknown. The FatiGo (Fatigue-Go) trial aims to compare the effects of both treatment approaches in outpatient rehabilitation on fatigue severity and quality of life in patients with chronic fatigue syndrome. Methods One hundred twenty patients who meet the criteria of chronic fatigue syndrome, fulfil the inclusion criteria and sign the informed consent form will be recruited. Both treatments take 6 months to complete. The outcome will be assessed at 6 and 12 months after the start of treatment. Two weeks after the start of treatment, expectancy and credibility will be measured, and patients will be asked to write down their personal goals and score their current performance on these goals on a visual analogue scale. At 6 and 14 weeks after the start of treatment, the primary outcome and three potential mediators—self-efficacy, causal attributions and present-centred attention-awareness—will be measured. Primary outcomes are fatigue severity and quality of life. Secondary outcomes are physical activity, psychological symptoms, self-efficacy, causal attributions, impact of disease on emotional and physical functioning, present-centred attention-awareness, life satisfaction, patient personal goals, self-rated improvement and economic costs. The primary analysis will be based on intention to treat, and longitudinal analysis of covariance will be used to compare treatments. Discussion The results of the trial will provide information on the effects of cognitive behavioural therapy and multidisciplinary rehabilitation treatment at 6 and 12 months follow-up, mediators of the outcome, cost-effectiveness, cost-utility, and the influence of treatment expectancy and credibility on the effectiveness of both treatments in patients with chronic fatigue syndrome. Trial registration Current Controlled Trials ISRCTN77567702. PMID:22647321

  10. Cerebral hemodynamics in patients with obstructive sleep apnea syndrome monitored with near-infrared spectroscopy (NIRS) during positive airways pressure (CPAP) therapy: a pilot study

    NASA Astrophysics Data System (ADS)

    Zhang, Zhongxing; Schneider, Maja; Laures, Marco; Fritschi, Ursula; Lehner, Isabella; Qi, Ming; Khatami, Ramin

    2014-03-01

    In obstructive sleep apnea syndrome (OSA) the periodic reduction or cessation of breathing due to narrowing or occlusion of the upper airway during sleep leads to daytime symptoms and increased cardiovascular risk, including stroke. The higher risk of stroke is related to the impairment in cerebral vascular autoregulation. Continuous positive airways pressure (CPAP) therapy at night is the most effective treatment for OSA. However, there is no suitable bedside monitoring method evaluating the treatment efficacy of CPAP therapy, especially to monitor the recovery of cerebral hemodynamics. NIRS is ideally suited for non-invasive monitoring the cerebral hemodynamics during sleep. In this study, we will for first time assess dynamic changes of cerebral hemodynamics during nocturnal CPAP therapy in 3 patients with OSA using NIRS. We found periodic oscillations in HbO2, HHb, tissue oxygenation index (TOI) and blood volume associated with periodic apnea events without CPAP in all OSA patients. These oscillations were gradually attenuated and finally eliminated with the stepwise increments of CPAP pressures. The oscillations were totally eliminated in blood volume earlier than in other hemodynamic parameters. These results suggested that 1) the cerebral hemodynamic oscillations induced by OSA events can effectively be attenuated by CPAP therapy, and 2) blood flow and blood volume recovered first during CPAP therapy, followed by the recovery of oxygen consumption. Our study suggested that NIRS is a useful tool to evaluate the efficacy of CPAP therapy in patients with OSA bedside and in real time.

  11. Advances in the development of novel antioxidant therapies as an approach for fetal alcohol syndrome prevention.

    PubMed

    Joya, Xavier; Garcia-Algar, Oscar; Salat-Batlle, Judith; Pujades, Cristina; Vall, Oriol

    2015-03-01

    Ethanol is the most common human teratogen, and its consumption during pregnancy can produce a wide range of abnormalities in infants known as fetal alcohol spectrum disorder (FASD). The major characteristics of FASD can be divided into: (i) growth retardation, (ii) craniofacial abnormalities, and (iii) central nervous system (CNS) dysfunction. FASD is the most common cause of nongenetic mental retardation in Western countries. Although the underlying molecular mechanisms of ethanol neurotoxicity are not completely determined, the induction of oxidative stress is believed to be one central process linked to the development of the disease. Currently, there is no known effective strategy for prevention (other than alcohol avoidance) or treatment. In the present review we will provide the state of art in the evidence for the use of antioxidants as a potential therapeutic strategy for the treatment using whole-embryo and culture cells models of FASD. We conclude that the imbalance of the intracellular redox state contributes to the pathogenesis observed in FASD models, and we suggest that antioxidant therapy can be considered a new efficient strategy to mitigate the effects of prenatal ethanol exposure. PMID:25131946

  12. A Unique Role of GATA1s in Down Syndrome Acute Megakaryocytic Leukemia Biology and Therapy

    PubMed Central

    Dombkowski, Alan A.; Balci, Tugce B.; Berman, Jason N.; Dellaire, Graham; Xie, Chengzhi; Buck, Steven A.; Matherly, Larry H.; Ge, Yubin; Taub, Jeffrey W.

    2011-01-01

    Background Acute megakaryocytic leukemia (AMkL) in Down syndrome (DS) children is uniformly associated with somatic GATA1 mutations, which result in the synthesis of a shorter protein (GATA1s) with altered transactivation activity compared to the wild-type GATA1. It is not fully established whether leukemogenesis and therapeutic responses in DS AMkL patients are due to loss of the wild-type GATA1 or due to a unique function of GATA1s. Methodology Stable clones of CMK cells with decreased GATA1s or Bcl-2 levels were generated by using GATA1- or BCL-2-specific lentivirus shRNAs. In vitro ara-C, daunorubicin, and VP-16 cytotoxicities of the shRNA stable clones were determined by using the Cell Titer-blue reagent. Apoptosis and cell cycle distribution were determined by flow cytometry analysis. Changes in gene transcript levels were determined by gene expression microarray and/or real-time RT-PCR. Changes in protein levels were measured by Western blotting. In vivo binding of GATA1s to IL1A promoter was determined by chromatin immunoprecipitation assays. Results Lentivirus shRNA knockdown of the GATA1 gene in the DS AMkL cell line, CMK (harbors a mutated GATA1 gene and only expresses GATA1s), resulting in lower GATA1s protein levels, promoted cell differentiation towards the megakaryocytic lineage and repressed cell proliferation. Increased basal apoptosis and sensitivities to ara-C, daunorubicin, and VP-16 accompanied by down-regulated Bcl-2 were also detected in the CMK GATA1 shRNA knockdown clones. Essentially the same results were obtained when Bcl-2 was knocked down with lentivirus shRNA in CMK cells. Besides Bcl-2, down-regulation of GATA1s also resulted in altered expression of genes (e.g., IL1A, PF4, and TUBB1) related to cell death, proliferation, and differentiation. Conclusion Our results suggest that GATA1s may facilitate leukemogenesis and potentially impact therapeutic responses in DS AMkL by promoting proliferation and survival, and by repressing megakaryocytic lineage differentiation, potentially by regulating expression of Bcl-2 protein and other relevant genes. PMID:22110660

  13. Gene therapy using IL-27 ameliorates Sjögren's syndrome-like autoimmune exocrinopathy

    PubMed Central

    2012-01-01

    Introduction Sjögren's syndrome (SjS) is a systemic autoimmune disease characterized by decreased salivary and lacrimal gland secretions, resulting in severe dry mouth and dry eyes. Recent studies have suggested that TH17 cells and its signature cytokine IL-17 are involved in the underlying pathogenic mechanisms leading to destructive inflammation and autoimmunity. In the present study, we examined whether IL-27, a natural inhibitor of TH17 activity, could down-regulate or reverse SjS in C57BL/6.NOD-Aec1Aec2 mice, a model of primary-SjS. Methods Recombinant serotype 2 adeno-associated viral (AAV2) vectors expressing either IL-27 (rAAV2-IL27) or LacZ (rAAV2-LacZ) were injected into 6 or 14 week-old C57BL/6.NOD-Aec1Aec2 mice. Changes in IL-27, IL-17, and IL-10 cytokine levels in peripheral blood were determined by ELISAs, while flow cytometry analyses were used to quantify cytokine-positive splenocytes. Histological assessment of salivary glands, anti-nuclear autoantibody (ANA) staining, and stimulated saliva flow rates were used to profile SjS disease severity. Results Mice systemically treated with intravenous rAAV2-IL27 injections at either 6 or 14 weeks of age exhibited long-term elevated levels of serum IL-27 with concomitantly reduced levels of IL-17 compared with sera from mice injected with rAAV2-LacZ or saline out to 20 weeks post-inoculation. Most importantly, disease profiles revealed that rAAV2-IL27 treatment had little effect on lymphocytic focus (LF) scores, but resulted in structural changes in LF, lower titers of ANAs with changes in staining patterns, and a less severe clinical disease as determined by saliva flow rates. Conclusions These data support the concept that IL-27, when provided exogenously, can induce a suppressive effect on SjS development and thus may be an effective therapeutic agent for regulating TH17 pro-inflammatory activity in autoimmune diseases where the TH17 system has been shown to play an important role in their pathogenesis. PMID:22827855

  14. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome

    PubMed Central

    Tomatsu, Shunji; Sawamoto, Kazuki; Alméciga-Díaz, Carlos J; Shimada, Tsutomu; Bober, Michael B; Chinen, Yasutsugu; Yabe, Hiromasa; Montaño, Adriana M; Giugliani, Roberto; Kubaski, Francyne; Yasuda, Eriko; Rodríguez-López, Alexander; Espejo-Mojica, Angela J; Sánchez, Oscar F; Mason, Robert W; Barrera, Luis A; Mackenzie, William G; Orii, Tadao

    2015-01-01

    Patients with mucopolysaccharidosis IVA (MPS IVA) can present with systemic skeletal dysplasia, leading to a need for multiple orthopedic surgical procedures, and often become wheelchair bound in their teenage years. Studies on patients with MPS IVA treated by enzyme replacement therapy (ERT) showed a sharp reduction on urinary keratan sulfate, but only modest improvement based on a 6-minute walk test and no significant improvement on a 3-minute climb-up test and lung function test compared with the placebo group, at least in the short-term. Surgical remnants from ERT-treated patients did not show reduction of storage materials in chondrocytes. The impact of ERT on bone lesions in patients with MPS IVA remains limited. ERT seems to be enhanced in a mouse model of MPS IVA by a novel form of the enzyme tagged with a bone-targeting moiety. The tagged enzyme remained in the circulation much longer than untagged native enzyme and was delivered to and retained in bone. Three-month-old MPS IVA mice treated with 23 weekly infusions of tagged enzyme showed marked clearance of the storage materials in bone, bone marrow, and heart valves. When treatment was initiated at birth, reduction of storage materials in tissues was even greater. These findings indicate that specific targeting of the enzyme to bone at an early stage may improve efficacy of ERT for MPS IVA. Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in Escherichia coli BL21 (DE3) (erGALNS) and in the methylotrophic yeast Pichia pastoris (prGALNS) has been produced as an alternative to the conventional production in Chinese hamster ovary cells. Recombinant GALNS produced in microorganisms may help to reduce the high cost of ERT and the introduction of modifications to enhance targeting. Although only a limited number of patients with MPS IVA have been treated with hematopoietic stem cell transplantation (HSCT), beneficial effects have been reported. A wheelchair-bound patient with a severe form of MPS IVA was treated with HSCT at 15 years of age and followed up for 10 years. Radiographs showed that the figures of major and minor trochanter appeared. Loud snoring and apnea disappeared. In all, 1 year after bone marrow transplantation, bone mineral density at L2–L4 was increased from 0.372 g/cm2 to 0.548 g/cm2 and was maintained at a level of 0.48±0.054 for the following 9 years. Pulmonary vital capacity increased approximately 20% from a baseline of 1.08 L to around 1.31 L over the first 2 years and was maintained thereafter. Activity of daily living was improved similar to the normal control group. After bilateral osteotomies, a patient can walk over 400 m using hip–knee–ankle–foot orthoses. This long-term observation of a patient shows that this treatment can produce clinical improvements although bone deformity remained unchanged. In conclusion, ERT is a therapeutic option for MPS IVA patients, and there are some indications that HSCT may be an alternative to treat this disease. However, as neither seems to be a curative therapy, at least for the skeletal dysplasia in MPS IVA patients, new approaches are investigated to enhance efficacy and reduce costs to benefit MPS IVA patients. PMID:25897204

  15. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

    PubMed

    Tomatsu, Shunji; Sawamoto, Kazuki; Alméciga-Díaz, Carlos J; Shimada, Tsutomu; Bober, Michael B; Chinen, Yasutsugu; Yabe, Hiromasa; Montaño, Adriana M; Giugliani, Roberto; Kubaski, Francyne; Yasuda, Eriko; Rodríguez-López, Alexander; Espejo-Mojica, Angela J; Sánchez, Oscar F; Mason, Robert W; Barrera, Luis A; Mackenzie, William G; Orii, Tadao

    2015-01-01

    Patients with mucopolysaccharidosis IVA (MPS IVA) can present with systemic skeletal dysplasia, leading to a need for multiple orthopedic surgical procedures, and often become wheelchair bound in their teenage years. Studies on patients with MPS IVA treated by enzyme replacement therapy (ERT) showed a sharp reduction on urinary keratan sulfate, but only modest improvement based on a 6-minute walk test and no significant improvement on a 3-minute climb-up test and lung function test compared with the placebo group, at least in the short-term. Surgical remnants from ERT-treated patients did not show reduction of storage materials in chondrocytes. The impact of ERT on bone lesions in patients with MPS IVA remains limited. ERT seems to be enhanced in a mouse model of MPS IVA by a novel form of the enzyme tagged with a bone-targeting moiety. The tagged enzyme remained in the circulation much longer than untagged native enzyme and was delivered to and retained in bone. Three-month-old MPS IVA mice treated with 23 weekly infusions of tagged enzyme showed marked clearance of the storage materials in bone, bone marrow, and heart valves. When treatment was initiated at birth, reduction of storage materials in tissues was even greater. These findings indicate that specific targeting of the enzyme to bone at an early stage may improve efficacy of ERT for MPS IVA. Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in Escherichia coli BL21 (DE3) (erGALNS) and in the methylotrophic yeast Pichia pastoris (prGALNS) has been produced as an alternative to the conventional production in Chinese hamster ovary cells. Recombinant GALNS produced in microorganisms may help to reduce the high cost of ERT and the introduction of modifications to enhance targeting. Although only a limited number of patients with MPS IVA have been treated with hematopoietic stem cell transplantation (HSCT), beneficial effects have been reported. A wheelchair-bound patient with a severe form of MPS IVA was treated with HSCT at 15 years of age and followed up for 10 years. Radiographs showed that the figures of major and minor trochanter appeared. Loud snoring and apnea disappeared. In all, 1 year after bone marrow transplantation, bone mineral density at L2-L4 was increased from 0.372 g/cm(2) to 0.548 g/cm(2) and was maintained at a level of 0.48±0.054 for the following 9 years. Pulmonary vital capacity increased approximately 20% from a baseline of 1.08 L to around 1.31 L over the first 2 years and was maintained thereafter. Activity of daily living was improved similar to the normal control group. After bilateral osteotomies, a patient can walk over 400 m using hip-knee-ankle-foot orthoses. This long-term observation of a patient shows that this treatment can produce clinical improvements although bone deformity remained unchanged. In conclusion, ERT is a therapeutic option for MPS IVA patients, and there are some indications that HSCT may be an alternative to treat this disease. However, as neither seems to be a curative therapy, at least for the skeletal dysplasia in MPS IVA patients, new approaches are investigated to enhance efficacy and reduce costs to benefit MPS IVA patients. PMID:25897204

  16. Efficacy of low-level laser therapy for the treatment of burning mouth syndrome: a randomized, controlled trial

    NASA Astrophysics Data System (ADS)

    Spanemberg, Juliana Cassol; López, José López; de Figueiredo, Maria Antonia Zancanaro; Cherubini, Karen; Salum, Fernanda Gonçalves

    2015-09-01

    The aim of the present study was to assess the effect of low-level laser therapy (LLLT) in the treatment of burning mouth syndrome (BMS). A diode laser was used in 78 BMS patients who were randomly assigned into four groups: IR1W, n=20 (830 nm, 100 mW, 5 J, 176 J/cm2, 50 s, LLLT weekly sessions, 10 sessions); IR3W, n=20 (830 nm, 100 mW, 5 J, 176 J/cm2, 50 s, three LLLT weekly sessions, 9 sessions); red laser, n=19 (685 nm, 35 mW, 2 J, 72 J/cm2, 58 s, three LLLT weekly sessions, 9 sessions); and control-group (CG), n=19. Symptoms were assessed at the end of the treatment and eight weeks later; quality of life related to oral health was assessed using the Oral Health Impact Profile (OHIP-14). Statistical analysis was carried out using repeated measures analysis of variance followed by the posthoc Tukey test. There was significant reduction of the symptoms in all groups at the end of the treatment, which was maintained in the follow-up. The scores of the IR1W and IR3W laser groups differed significantly from those of the CG. There was also a decrease in the OHIP-14 scores in the four groups. The IR3W laser group scores differed significantly from those of the CG. LLLT reduces the symptoms of BMS and may be an alternative therapeutic strategy for the relief of symptoms in patients with BMS.

  17. The KDM2B- let-7b -EZH2 axis in myelodysplastic syndromes as a target for combined epigenetic therapy.

    PubMed

    Karoopongse, Ekapun; Yeung, Cecilia; Byon, John; Ramakrishnan, Aravind; Holman, Zaneta J; Jiang, Peter Y Z; Yu, Qiang; Deeg, H Joachim; Marcondes, A Mario

    2014-01-01

    Both DNA and histone methylation are dysregulated in the myelodysplastic syndromes (MDS). Based on preliminary data we hypothesized that dysregulated interactions of KDM2B, let-7b and EZH2 signals lead to an aberrant epigenetic landscape. Gene expression in CD34+ cells from MDS marrows was analyzed by NanoString miR array and validated by real-time polymerase chain reaction (PCR). The functions of KDM2B, let-7b and EZH2 were characterized in myeloid cell lines and in primary MDS cells. Let-7b levels were significantly higher, and KDM2B and EZH2 expression was lower in primary CD34+ MDS marrow cells (n = 44) than in healthy controls (n = 21; p<0.013, and p<0.0001, respectively). Overexpression of let-7b reduced EZH2 and KDM2B protein levels, and decreased cells in S-phase while increasing G0/G1 cells (p = 0.0005), accompanied by decreased H3K27me3 and cyclin D1. Silencing of KDM2B increased let-7b expression. Treatment with the cyclopentanyl analog of 3-deazaadenosine, DZNep, combined with the DNA hypomethylating agent 5-azacitidine, decreased levels of EZH2, suppressed methylation of di- and tri-methylated H3K27, and increased p16 expression, associated with cell proliferation. Thus, KDM2B, via let-7b/EZH2, promotes transcriptional repression. DZNep bypassed the inhibitory KDM2B/let-7b/EZH2 axis by preventing H3K27 methylation and reducing cell proliferation. DZNep might be able to enhance the therapeutic effects of DNA hypomethylating agents such as 5-azacitidine, currently considered standard therapy for patients with MDS. PMID:25225797

  18. Efficacy of low-level laser therapy for the treatment of burning mouth syndrome: a randomized, controlled trial.

    PubMed

    Spanemberg, Juliana Cassol; López López, José; de Figueiredo, Maria Antonia Zancanaro; Cherubini, Karen; Salum, Fernanda Gonçalves

    2015-09-01

    The aim of the present study was to assess the effect of low-level laser therapy (LLLT) in the treatment of burning mouth syndrome (BMS). A diode laser was used in 78 BMS patients who were randomly assigned into four groups: IR1W, n = 20 (830 nm, 100 mW, 5 J, 176 J/cm2, 50 s, LLLT weekly sessions, 10 sessions); IR3W, n = 20 (830 nm, 100 mW, 5 J, 176 J/cm2, 50 s, three LLLT weekly sessions, 9 sessions); red laser, n = 19 (685 nm, 35 mW, 2 J, 72 J/cm2, 58 s, three LLLT weekly sessions, 9 sessions); and control-group (CG), n = 19. Symptoms were assessed at the end of the treatment and eight weeks later; quality of life related to oral health was assessed using the Oral Health Impact Profile (OHIP-14). Statistical analysis was carried out using repeated measures analysis of variance followed by the posthoc Tukey test. There was significant reduction of the symptoms in all groups at the end of the treatment, which was maintained in the follow-up. The scores of the IR1W and IR3W laser groups differed significantly from those of the CG. There was also a decrease in the OHIP-14 scores in the four groups. The IR3W laser group scores differed significantly from those of the CG. LLLT reduces the symptoms of BMS and may be an alternative therapeutic strategy for the relief of symptoms in patients with BMS. PMID:26359814

  19. Improvements in manual dexterity relate to improvements in cognitive planning after assisted cycling therapy (ACT) in adolescents with down syndrome.

    PubMed

    Holzapfel, Simon D; Ringenbach, Shannon D R; Mulvey, Genna M; Sandoval-Menendez, Amber M; Cook, Megan R; Ganger, Rachel O; Bennett, Kristen

    2015-01-01

    We have previously reported beneficial effects of acute (i.e., single session) Assisted Cycling Therapy (ACT) on manual dexterity and cognitive planning ability in adolescents with Down syndrome (DS). In the present study, we report the chronic effects of eight weeks of ACT, voluntary cycling (VC), and no cycling (NC), on the same measures in adolescents with DS. Participants completed 8 weeks of ACT, VC, or NC. Those in the ACT and VC groups completed 30min sessions three times per week on a stationary bicycle. During ACT, the mechanical motor of the bicycle augmented the cadence to a rate which was on average 79% faster than the voluntary cadence. During VC, the participants pedaled at a self-selected rate. Unimanual dexterity scores as measured with the Purdue Pegboard test (PPT) improved significantly more for the ACT and VC groups compared to the NC group. ACT lead to greater improvements than VC and NC in the assembly sub-test, which is a task that requires more advanced temporal and spatial processing. The ACT group improved significantly more than the VC group and non-significantly more than the NC group in cognitive planning ability as measured by the Tower of London test (ToL). There were also significant correlations between the assembly subtest of the PPT and all measures of the ToL. These correlations were stronger during post-testing than pre-testing. Pre-post changes in the combined PPT score and ToL number of correct moves correlated positively in the ACT group. These results support the efficacy of the salutary effects of ACT on global fine motor function and executive function in DS. Additionally, the performance on complex bimanual dexterity tasks appears to be related to the capacity of cognitive planning ability. This research has important implications for persons with movement deficits that affect activities of daily living. PMID:26280691

  20. Sustained release nitrite therapy results in myocardial protection in a porcine model of metabolic syndrome with peripheral vascular disease.

    PubMed

    Bradley, Jessica M; Islam, Kazi N; Polhemus, David J; Donnarumma, Erminia; Brewster, Luke P; Tao, Ya-Xiong; Goodchild, Traci T; Lefer, David J

    2015-07-15

    Metabolic syndrome (MetS) reduces endothelial nitric oxide (NO) bioavailability and exacerbates vascular dysfunction in patients with preexisting vascular diseases. Nitrite, a storage form of NO, can mediate vascular function during pathological conditions when endogenous NO is reduced. The aims of the present study were to characterize the effects of severe MetS and obesity on dyslipidemia, myocardial oxidative stress, and endothelial NO synthase (eNOS) regulation in the obese Ossabaw swine (OS) model and to examine the effects of a novel, sustained-release formulation of sodium nitrite (SR-nitrite) on coronary vascular reactivity and myocardial redox status in obese OS subjected to critical limb ischemia (CLI). After 6 mo of an atherogenic diet, obese OS displayed a MetS phenotype. Obese OS had decreased eNOS functionality and NO bioavailability. In addition, obese OS exhibited increased oxidative stress and a significant reduction in antioxidant enzymes. The efficacy of SR-nitrite therapy was examined in obese OS subjected to CLI. After 3 wk of treatment, SR-nitrite (80 mg · kg(-1) · day(-1) bid po) increased myocardial nitrite levels and eNOS function. Treatment with SR-nitrite reduced myocardial oxidative stress while increasing myocardial antioxidant capacity. Ex vivo assessment of vascular reactivity of left anterior descending coronary artery segments demonstrated marked improvement in vasoreactivity to sodium nitroprusside but not to substance P and bradykinin in SR-nitrite-treated animals compared with placebo-treated animals. In conclusion, in a clinically relevant, large-animal model of MetS and CLI, treatment with SR-nitrite enhanced myocardial NO bioavailability, attenuated oxidative stress, and improved ex vivo coronary artery vasorelaxation. PMID:25957218

  1. Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

    PubMed Central

    Tony, Michèle; Höybye, Charlotte; Allen, David B.; Tauber, Maïthé; Christiansen, Jens Sandahl; Ambler, Geoffrey R.; Battista, Renaldo; Beauloye, Véronique; Berall, Glenn; Biller, Beverly M. K.; Butler, Merlin G.; Cassidy, Suzanne B.; Chihara, Kazuo; Cohen, Pinchas; Craig, Maria; Farholt, Stense; Goetghebeur, Mireille; Goldstone, Anthony P.; Greggi, Tiziana; Grugni, Graziano; Hokken-Koelega, Anita C.; Johannsson, Gudmundur; Johnson, Keegan; Kemper, Alex; Kopchick, John J.; Malozowski, Saul; Miller, Jennifer; Mogul, Harriette R.; Muscatelli, Françoise; Nergårdh, Ricard; Nicholls, Robert D.; Radovick, Sally; Rosenthal, M. Sara; Sipilä, Ilkka; Tarride, Jean-Eric; Vogels, Annick; Waters, Michael J.

    2013-01-01

    Context: Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes treating individuals with cognitive disability, varied therapeutic goals that are not focused exclusively on increased height, and concerns about potential life-threatening adverse events. Objective: The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. Evidence: We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, comparative observational studies, and long-term studies (>3.5 y). Adult studies included randomized controlled trials of rhGH treatment for ? 6 months and uncontrolled trials. Safety data were obtained from case reports, clinical trials, and pharmaceutical registries. Methodology: Forty-three international experts and stakeholders followed clinical practice guideline development recommendations outlined by the AGREE Collaboration (www.agreetrust.org). Evidence was synthesized and graded using a comprehensive multicriteria methodology (EVIDEM) (http://bit.ly.PWGHIN). Conclusions: Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions. Cognitive impairment should not be a barrier to treatment, and informed consent/assent should include benefit/risk information. Exclusion criteria should include severe obesity, uncontrolled diabetes mellitus, untreated severe obstructive sleep apnea, active cancer, or psychosis. Clinical outcome priorities should vary depending upon age and the presence of physical, mental, and social disability, and treatment should be continued for as long as demonstrated benefits outweigh the risks. PMID:23543664

  2. Safety and Efficacy of Combined Extracorporeal Co2 Removal and Renal Replacement Therapy in Patients With Acute Respiratory Distress Syndrome and Acute Kidney Injury: The Pulmonary and Renal Support in Acute Respiratory Distress Syndrome Study*

    PubMed Central

    Castanier, Matthias; Signouret, Thomas; Soundaravelou, Rettinavelou; Lepidi, Anne; Seghboyan, Jean-Marie

    2015-01-01

    Objective: To assess the safety and efficacy of combining extracorporeal Co2 removal with continuous renal replacement therapy in patients presenting with acute respiratory distress syndrome and acute kidney injury. Design: Prospective human observational study. Settings: Patients received volume-controlled mechanical ventilation according to the acute respiratory distress syndrome net protocol. Continuous venovenous hemofiltration therapy was titrated to maintain maximum blood flow and an effluent flow of 45 mL/kg/h with 33% predilution. Patients: Eleven patients presenting with both acute respiratory distress syndrome and acute kidney injury required renal replacement therapy. Interventions: A membrane oxygenator (0.65 m2) was inserted within the hemofiltration circuit, either upstream (n = 7) or downstream (n = 5) of the hemofilter. Baseline corresponded to tidal volume 6 mL/kg of predicted body weight without extracorporeal Co2 removal. The primary endpoint was 20% reduction in Paco2 at 20 minutes after extracorporeal Co2 removal initiation. Tidal volume was subsequently reduced to 4 mL/kg for the remaining 72 hours. Measurements and Main Results: Twelve combined therapies were conducted in the 11 patients. Age was 70 ± 9 years, Simplified Acute Physiology Score II was 69 ± 13, Sequential Organ Failure Assessment score was 14 ± 4, lung injury score was 3 ± 0.5, and Pao2/Fio2 was 135 ± 41. Adding extracorporeal Co2 removal at tidal volume 6 mL/kg decreased Paco2 by 21% (95% CI, 17–25%), from 47 ± 11 to 37 ± 8 Torr (p < 0.001). Lowering tidal volume to 4 mL/kg reduced minute ventilation from 7.8 ± 1.5 to 5.2 ± 1.1 L/min and plateau pressure from 25 ± 4 to 21 ± 3 cm H2O and raised Paco2 from 37 ± 8 to 48 ± 10 Torr (all p < 0.001). On an average of both positions, the oxygenator’s blood flow was 410 ± 30 mL/min and the Co2 removal rate was 83 ± 20 mL/min. The oxygenator blood flow (p <0.001) and the Co2 removal rate (p = 0.083) were higher when the membrane oxygenator was placed upstream of the hemofilter. There was no safety concern. Conclusions: Combining extracorporeal Co2 removal and continuous venovenous hemofiltration in patients with acute respiratory distress syndrome and acute kidney injury is safe and allows efficient blood purification together with enhanced lung protective ventilation. PMID:26488219

  3. Extracorporeal shock wave therapy for chronic painful heel syndrome: a prospective, double blind, randomized trial assessing the efficacy of a new electromagnetic shock wave device.

    PubMed

    Gollwitzer, Hans; Diehl, Peter; von Korff, Alexej; Rahlfs, Volker W; Gerdesmeyer, Ludger

    2007-01-01

    Published data describing the efficacy of extracorporeal shock wave therapy for the treatment of plantar heel pain provide conflicting results, and optimal treatment guidelines are yet to be determined. To assess the efficacy and safety of extracorporeal shockwave therapy compared with placebo in the treatment of chronic painful heel syndrome with a new electromagnetic device, we undertook a prospective, double-blind, randomized, placebo-controlled trial conducted among 40 participants who were randomly allocated to either active, focused extracorporeal shockwave therapy (0.25 mJ/mm(2)) or sham shockwave therapy. Both groups received 3 applications of 2000 shockwave impulses, each session 1 week apart. The primary outcome was the change in composite heel pain (morning pain, pain with activities of daily living, and pain upon application of pressure with a focal force meter) as quantified using a visual analog pain scale at 12 weeks after completion of the interventions compared with baseline. Secondary endpoints included changes in morning pain, pain with activities of daily living, and pain upon application of pressure with a focal force meter, as measured on a visual analog pain scale, as well as the change in the Roles and Maudsley score, at 12 weeks after the baseline measurement. Active extracorporeal shockwave therapy resulted in a 73.2% reduction in composite heel pain, and this was a 32.7% greater reduction than that achieved with placebo. The difference was not statistically significant (1-tailed Wilcoxon Mann-Whitney U test, P =.0302), but reached clinical relevance (Mann-Whitney effect size = 0.6737). In regard to the secondary outcomes, active extracorporeal shockwave therapy displayed relative superiority in comparison with the sham intervention. No relevant adverse events occurred in either intervention group. The results of the present study support the use of electromagnetically generated extracorporeal shockwave therapy for the treatment of refractory plantar heel pain. PMID:17761319

  4. Cost-utility analysis of genotype-guided antiplatelet therapy in patients with moderate-to-high risk acute coronary syndrome and planned percutaneous coronary intervention

    PubMed Central

    Patel, Vardhaman; Lin, Fang-Ju; Ojo, Olaitan; Rao, Sapna; Yu, Shengsheng; Zhan, Lin; Touchette, Daniel R.

    2014-01-01

    Background Prasugrel is recommended over clopidogrel in poor/intermediate CYP2C19 metabolizers with acute coronary syndrome (ACS) and planned percutaneous coronary intervention (PCI), reducing the risk of ischemic events. CYP2C19 genetic testing can guide antiplatelet therapy in ACS patients. Objective The purpose of this study was to evaluate the cost-utility of genotype-guided treatment, compared with prasugrel or generic clopidogrel treatment without genotyping, from the US healthcare provider’s perspective. Methods A decision model was developed to project lifetime economic and humanistic burden associated with clinical outcomes (myocardial infarction [MI], stroke and major bleeding) for the three strategies in patients with ACS. Probabilities, costs and age-adjusted quality of life were identified through systematic literature review. Incremental cost-utility ratios (ICURs) were calculated for the treatment strategies, with quality-adjusted life years (QALYs) as the primary effectiveness outcome. Relative risk of developing myocardial infarction and stroke between patients with and without variant CYP2C19 when receiving clopidogrel were estimated to be 1.34 and 3.66, respectively. One-way and probabilistic sensitivity analyses were performed. Results Clopidogrel cost USD19,147 and provided 10.03 QALYs versus prasugrel (USD21,425, 10.04 QALYs) and genotype-guided therapy (USD19,231, 10.05 QALYs). The ICUR of genotype-guided therapy compared with clopidogrel was USD4,200. Genotype-guided therapy provided more QALYs at lower costs compared with prasugrel. Results were sensitive to the cost of clopidogrel and relative risk of myocardial infarction and stroke between CYP2C19 variant vs. non-variant. Net monetary benefit curves showed that genotype-guided therapy had at least 70% likelihood of being the most cost-effective alternative at a willingness-to-pay of USD100,000/QALY. In comparison with clopidogrel, prasugrel therapy was more cost-effective with <21% certainty at willingness-to-pay of >USD170,000/QALY. Conclusions Our modeling analyses suggest that genotype-guided therapy is a cost-effective strategy in patients with acute coronary syndrome undergoing planned percutaneous coronary intervention. PMID:25243032

  5. Pain exposure physical therapy (PEPT) compared to conventional treatment in complex regional pain syndrome type 1: a randomised controlled trial

    PubMed Central

    Barnhoorn, Karlijn J; van de Meent, Henk; van Dongen, Robert T M; Klomp, Frank P; Groenewoud, Hans; Samwel, Han; Nijhuis-van der Sanden, Maria W G; Frölke, Jan Paul M; Staal, J Bart

    2015-01-01

    Objective To compare the effectiveness of pain exposure physical therapy (PEPT) with conventional treatment in patients with complex regional pain syndrome type 1 (CRPS-1) in a randomised controlled trial with a blinded assessor. Setting The study was conducted at a level 1 trauma centre in the Netherlands. Participants 56 adult patients with CRPS-1 participated. Three patients were lost to follow-up. Interventions Patients received either PEPT in a maximum of five treatment sessions, or conventional treatment following the Dutch multidisciplinary guideline. Measurements Outcomes were assessed at baseline and at 3, 6 and 9?months after randomisation. The primary outcome measure was the Impairment level Sum Score—Restricted Version (ISS-RV), consisting of visual analogue scale for pain (VAS-pain), McGill Pain Questionnaire, active range of motion (AROM) and skin temperature. Secondary outcome measures included Pain Disability Index (PDI); muscle strength; Short Form 36 (SF-36); disability of arm, shoulder and hand; Lower Limb Tasks Questionnaire (LLTQ); 10?m walk test; timed up-and-go test (TUG) and EuroQol-5D. Results The intention-to-treat analysis showed a clinically relevant decrease in ISS-RV (6.7 points for PEPT and 6.2 points for conventional treatment), but the between-group difference was not significant (0.96, 95% CI ?1.56 to 3.48). Participants allocated to PEPT experienced a greater improvement in AROM (between-group difference 0.51, 95% CI 0.07 to 0.94; p=0.02). The per protocol analysis showed larger and significant between-group effects on ISS-RV, VAS-pain, AROM, PDI, SF-36, LLTQ and TUG. Conclusions We cannot conclude that PEPT is superior to conventional treatment for patients with CRPS-1. Further high-quality research on the effects of PEPT is warranted given the potential effects as indicated by the per protocol analysis. Trial registration numbers NCT00817128 and NTR 2090. PMID:26628523

  6. Lees' syndrome: a case series.

    PubMed

    Becker, Nilson; Munhoz, Renato P; Teive, Hélio A G

    2011-10-01

    We report a case series of dopamine dysregulation syndrome, previously known as hedonistic homeostatic dysregulation in patients with Parkinson's disease on dopamine replacement therapies, now designated as Lees' syndrome. PMID:22042176

  7. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome

    PubMed Central

    Chang, Qing; Wang, Jianjun; Li, Qi; Kim, Yeunjung; Zhou, Binfei; Wang, Yunfeng; Li, Huawei; Lin, Xi

    2015-01-01

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1?/? mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0–P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner’s membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1?/? mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss. PMID:26084842

  8. Vaccine Therapy Plus Immune Adjuvant in Treating Patients With Chronic Myeloid Leukemia, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

    ClinicalTrials.gov

    2013-01-04

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Myeloid Leukemia in Remission; Chronic Phase Chronic Myelogenous Leukemia; Previously Treated Myelodysplastic Syndromes; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Relapsing Chronic Myelogenous Leukemia

  9. A Survey of Radiation-Induced Bronchiolitis Obliterans Organizing Pneumonia Syndrome After Breast-Conserving Therapy in Japan

    SciTech Connect

    Ogo, Etsuyo Komaki, Ritsuko; Fujimoto, Kiminori; Uchida, Masafumi; Abe, Toshi; Nakamura, Katsumasa; Mitsumori, Michihide; Sekiguchi, Kenji; Kaneyasu, Yuko; Hayabuchi, Naofumi

    2008-05-01

    Purpose: We observed a rare and unique occurrence of radiation-induced pulmonary injury outside the tangential field for early breast cancer treatment. The findings appeared to be idiopathic and were called radiation-induced bronchiolitis obliterans organizing pneumonia (BOOP) syndrome. We surveyed major hospitals in Japan to review their findings of radiation-induced BOOP, in particular the clinical and pictorial characteristics of the entity. Methods and Materials: We reviewed surveys completed and returned by 20 institutions. The survey responses were based on a total of 37 cases of BOOP syndrome. We also reviewed X-ray and computed tomography scans provided by these institutions. We discussed the information derived from the questionnaire and analyzed patients' characteristics, methods used in the treatment of BOOP syndrome, and prognosis. Results: The incidence of the radiation-induced BOOP syndrome was about 1.8% (37 of 2,056). We did not find a relationship between the characteristics of patients and the occurrence of radiation-induced BOOP syndrome. The pulmonary findings were classified into four patterns on chest computed tomography scans. Progression of the pulmonary lesions observed on chest X-ray was classified into three patterns. Pneumonitis appeared within 6 months after radiotherapy was completed and disappeared within 6-12 months after its onset. At 5-year follow-up, 2 patients had died, 1 of breast cancer and the other of interstitial pneumonitis, which seemed to be idiopathic and unrelated to the radiation-induced BOOP syndrome. Conclusions: Although the incidence of BOOP syndrome and its associated prognosis are not significant, the patients' clinical condition must be carefully followed.

  10. [A case of Stevens-Johnson syndrome (SJS) progressive toxic epidermal necrolysis (TEN) onset during hyposensitization therapy for pulmonary tuberculosis complicated with dermatomyositis].

    PubMed

    Yamashita, Hiroyuki; Ueda, Yo; Takahashi, Yuko; Mimori, Akio

    2012-07-01

    A 58-year-old female with a history of dermatomyositis was receiving large oral doses of steroids. She had pulmonary tuberculosis and developed a fever, systemic exudative erythema, exanthema, and epidermolysis covering 30% of her body surface area while being treated with four agents, including isoniazid (INH) and rifampicin (RFP). Histopathologically, eosinophilic necrosis was observed in all layers of the epidermis and a diagnosis of Stevens-Johnson syndrome (SJS) progressive toxic epidermal necrolysis (TEN) was made. The drugs suspected in the drug-induced lymphocyte stimulation test (DLST) re-testing were INH and RFP, and the DLST was considered to be important during the recovery period as well as in the acute phase. Early treatment with plasma exchange therapy and large quantities of intravenous immunoglobulin (IVIG) was successful. Plasma exchange therapy and IVIG are extremely effective when SJS and TEN occur in a patient already on high-dose steroid therapy. Note that the incidence of SJS and TEN is believed to be higher in patients with collagen disease, such as in our case, as compared to the general population. PMID:22991850

  11. Elevated reticulocyte count – a clue to the diagnosis of haemolytic-uraemic syndrome (HUS) associated with gemcitabine therapy for metastatic duodenal papillary carcinoma: a case report

    PubMed Central

    Serke, S; Riess, H; Oettle, H; Huhn, D

    1999-01-01

    In adults, the haemolytic-uraemic syndrome (HUS) is associated with probable causative factors in the minority of all cases. Cytotoxic drugs are one of these potential causative agents. Although metastatic cancer by itself is a recognized risk-factor for the development of HUS, therapy with mitomycin-C, with cis-platinum, and with bleomycin carries a significant, albeit extremely small, risk for the development of HUS, compared with all other cytotoxic drugs. Gemcitabine is a novel cytotoxic drug with promising activity against pancreatic adenocarcinoma. We are reporting on one patient with metastatic duodenal papillary carcinoma developing HUS while on weekly gemcitabine therapy. The presenting features in this patient were non-cardiac pulmonary oedema, renal failure, thrombocytopenia and haemolytic anaemia. The diagnosis of HUS was made on the day of admission of the patient to this institution. Upon aggressive therapy, including one single haemodialysis and five plasmaphereses, the patient recovered uneventfully, with modestly elevated creatinine-values as a remnant of the acute illness. Re-exposure to gemcitabine 6 months after the episode of HUS instituted for progressive carcinoma, thus far has not caused another episode of HUS. © 1999 Cancer Research Campaign PMID:10188900

  12. An experiment of the combined treatment of traditional Lei-huo-jiu therapy with Chinese medicine for the lacrimal gland of Sjögren's syndrome.

    PubMed

    Jin, Ming; Song, Haijiao; Pan, Lin

    2009-06-01

    This experiment chooses nonobese diabetic (NOD) mouse as the animal model of Sjögren's syndrome and investigates the morphologic changes, the expression of inflammatory factors and growth factors of this mouse's lacrimal gland in response to a combined treatment of traditional Lei-huo-jiu therapy alone and in combination with Chinese medicine. The methods were to (1) use a morphological approach to directly observe pathological changes of the lacrimal gland in response to combined treatment and (2) to detect the level of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1, and nuclear factor kappa B (NF-kappaB) in lacrimal gland tissue caused by the combined treatments using a immunohistochemical approach. There is a reduction of the mast cell's degranulation and modulation of the level of cytokines in TNF-alpha, IL-1, and NF-kappaB in the combined therapy group. The combined treatment of traditional Lei-huo-jiu therapy with Chinese medicine can improve the pathological changes of the lacrimal gland tissue of the NOD mouse through modulating the level of TNF-alpha, IL-1, and NF-kappaB which results in improved tear secretion and function of the lacrimal gland. PMID:19672465

  13. Erratum: An experiment of the combined treatment of traditional Lei-huo-jiu therapy with Chinese medicine for the lacrimal gland of Sjögren's syndrome.

    PubMed

    Jin, Ming; Song, Haijiao; Pan, Lin

    2009-09-01

    This experiment chooses nonobese diabetic (NOD) mouse as the animal model of Sjögren's syndrome and investigates the morphologic changes, the expression of inflammatory factors and growth factors of this mouse's lacrimal gland in response to a combined treatment of traditional Lei-huo-jiu therapy alone and in combination with Chinese medicine. The methods were to (1) use a morphological approach to directly observe pathological changes of the lacrimal gland in response to combined treatment and (2) to detect the level of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1, and nuclear factor kappa B (NF-kappaB) in lacrimal gland tissue caused by the combined treatments using a immunohistochemical approach. There is a reduction of the mast cell's degranulation and modulation of the level of cytokines in TNF-alpha, IL-1, and NF-kappaB in the combined therapy group. The combined treatment of traditional Lei-huo-jiu therapy with Chinese medicine can improve the pathological changes of the lacrimal gland tissue of the NOD mouse through modulating the level of TNF-alpha, IL-1, and NF-kappaB which results in improved tear secretion and function of the lacrimal gland.[This corrects the article on p. in vol. .]. PMID:20046844

  14. The effects of scapular stabilization based exercise therapy on pain, posture, flexibility and shoulder mobility in patients with shoulder impingement syndrome: a controlled randomized clinical trial

    PubMed Central

    Moezy, Azar; Sepehrifar, Saeed; Solaymani Dodaran, Masoud

    2014-01-01

    Background: Dysfunction in the kinetic chain caused by poor scapula stabilization can contribute to shoulder injuries and Shoulder Impingement Syndrome (SIS). The purpose of this study was to compare the effectiveness of two treatment approaches scapular stabilization based exercise therapy and physical therapy in patients with SIS. Methods: The study is a randomized clinical trial in which 68 patients with SIS were randomly assigned in two groups of exercise therapy (ET) and physical therapy (PT) and received 18 sessions of treatment. Pain, shoulders' range of abduction and external rotation, shoulder protraction, scapular rotation and symmetry as well as postural assessment and Pectoralis minor length were evaluated pre and post intervention. The paired-sample t test and the independent sample t test were applied respectively to determine the differences in each group and between two groups. Results: Our findings indicated significant differences in abduction and external rotation range, improvement of forward shoulder translation and increase in the flexibility of the involved shoulder between the two groups (respectively ; p=0.024, p=0.001, p<0/0001, p<0/0001). No significant difference was detected in pain reduction between the groups (p=0.576). Protraction of the shoulder (p<0.0001), forward head posture (p<0/0001) and mid thoracic curvature (p<0.0001) revealed a significant improvement in the ET group. Apparent changes occurred in scapular rotation and symmetry in both groups but no significant differences were observed between the two groups (respectively; p=0.183, p=0.578). Conclusion: The scapular stabilization based exercise intervention was successful in increasing shoulder range, decreasing forward head and shoulder postures and Pectoralis minor flexibility. PMID:25664288

  15. Recurrent Giant Molluscum Contagiosum Immune Reconstitution Inflammatory Syndrome (IRIS) after Initiation of Antiretroviral Therapy in an HIV-infected South African Male

    PubMed Central

    Drain, Paul K.; Mosam, Anisa; Gounder, Lilishia; Gosnell, Bernadett; Manzini, Thandekile; Moosa, Mahomed-Yunus S.

    2014-01-01

    Summary We describe an HIV-infected South African male who experienced two distinct episodes of disseminated giant molluscum contagiosum (MC) immune reconstitution inflammatory syndrome (IRIS) over a 6-year period. The first episode of MC-IRIS occurred with rapid virologic suppression following antiretroviral therapy (ART) initiation. The second episode occurred during a rapid increase in CD4 cells following stable viral suppression with second-line ART. His MC lesions then completely resolved during a reduction in CD4 count, despite maintaining virologic suppression. Nearly one year after the resolution of his giant MC-IRIS lesions, he maintains an undetectable viral load, but his level of immune deficiency has not improved. In the absence of well-controlled therapeutic trials, MC-IRIS presents important management challenges. PMID:23970647

  16. Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report

    NASA Astrophysics Data System (ADS)

    Barolet, Daniel

    2014-11-01

    Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. The transforming growth factor beta has been identified as a major player in the pathogenic process, where low-level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940 nm using millisecond pulsing and continuous wave (CW) modes on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks using a sequential pulsing mode on one elbow and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Considerable functional and morphologic improvements were observed after LLLT, with the best results seen with the pulsing mode. No adverse effects were noted. Pulsed LLLT represents a treatment alternative for osteoarticular signs and symptoms in limited scleroderma (CREST syndrome).

  17. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy

    SciTech Connect

    Hiort, O. Tufts-New England Medical Center, Boston, MA ); Huang, Q. ); Sinnecker, G.H.G.; Kruse, K. ); Sadeghi-Nejad, A.; Wolfe, H.J. ); Yandell, D.W. ) Harvard School of Public Health, Boston, MA )

    1993-07-01

    Recent studies indicate that mutations in the androgen receptor gene are associated with androgen insensitivity syndromes, a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males. In this report, the authors address the possibility of rapid mutational analysis of the androgen receptor gene for initial diagnosis, genetic counseling, and molecular subclassification of affected patients and their families. DNA from peripheral blood leukocytes of six patients from five families with various degrees of androgen insensitivity was studied. Exons 2 to 8 of the androgen receptor gene were analyzed using a combination of single strand conformation polymorphism analysis and direct DNA sequencing. Female family members were also studied to identify heterozygote carriers. Point mutations in the AR gene were identified in all six patients, and all mutations caused amino acid substitutions. One patient with incomplete androgen insensitivity was a mosaic for the mutation. Four of the five mothers, as well as a young sister of one patient, were carriers of the mutation present in the affected child. The data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome. Molecular genetic characterization of the variant allele can serve as a primary tool for diagnosis and subsequent therapy, and can provide a basis for distinguishing heterozygous carriers in familial androgen resistance. The identification of carriers is of substantial clinical importance for genetic counseling. 29 refs., 2 figs., 1 tab.

  18. [Nager syndrome].

    PubMed

    Opitz, C; Shetty, D K; Witkowski, R

    1998-05-01

    In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated. PMID:9658800

  19. An overview of pharmacology and clinical aspects concerning the therapy of cochleo-vestibular syndromes by intratympanic drug delivery

    PubMed Central

    CHIRTE?, FELICIAN; ALBU, SILVIU

    2013-01-01

    Intratympanic drug delivery refers to drug administration in the middle ear, the main advantage being direct diffusion of substances in the inner ear through the round window membrane with subsequent high intralabiryntine drug concentration and very low systemic side effects. The article is a review of literature concerning the inner ear barrier systems, the physiology of inner ear fluids, intralabirinthine pharmacokinetics and the commonest drugs applied in the middle ear for the treatment of cochleo-vestibular syndromes. PMID:26527944

  20. Hemiparkinsonism-hemiatrophy syndrome.

    PubMed

    Ayromlou, Hormoz; Najmi, Safa; Arami, Mohammad Ali

    2011-03-01

    The syndrome of hemiparkinsonism-hemiatrophy is an uncommon form of secondary Parkinsonism that presents with unilateral body Parkinsonism plus variable atrophy on the same side. Diagnosis of this syndrome needs a complete past medical history taking, as well as assessment of the familial history, clinical examination and complete paraclinical tests.The response to medical therapy has been variable in various researches. This case showed a good response to the addition of a dopamine agonist to levodopa therapy. PMID:21361726

  1. Successful Management of Insulin Allergy and Autoimmune Polyendocrine Syndrome Type 4 with Desensitization Therapy and Glucocorticoid Treatment: A Case Report and Review of the Literature

    PubMed Central

    Villalobos, Marjorie; Martínez, María Sofía; Chávez-Castillo, Mervin; Mejías, José Carlos; Miquilena, Edgar; Bermúdez, Valmore

    2014-01-01

    Introduction. Insulin allergy is a rare complication of insulin therapy, especially in type 1 diabetes mellitus (T1DM). Key manifestations are hypersensitivity-related symptoms and poor metabolic control. T1DM, as well as insulin allergy, may develop in the context of autoimmune polyendocrine syndrome (APS), further complicating management. Case Report. A 17-year-old male patient, diagnosed with T1DM, was treated with various insulin therapy schemes over several months, which resulted in recurrent anaphylactoid reactions and poor glycemic control, after which he was referred to our Endocrinology and Immunology Department. A prick test was carried out for all commercially available insulin presentations and another insulin scheme was designed but proved unsuccessful. A desensitization protocol was started with Glargine alongside administration of Prednisone, which successfully induced tolerance. Observation of skin lesions typical of vitiligo prompted laboratory workup for other autoimmune disorders, which returned positive for autoimmune gastritis/pernicious anemia. These findings are compatible with APS type 4. Discussion. To our knowledge, this is the first documented case of insulin allergy in type 4 APS, as well as this particular combination in APS. Etiopathogenic components shared by insulin allergy and APS beg for further research in immunogenetics to further comprehend pathophysiologic aspects of these diseases. PMID:25548690

  2. The TRACTISS Protocol: a randomised double blind placebo controlled clinical TRial of Anti-B-Cell Therapy In patients with primary Sjögren’s Syndrome

    PubMed Central

    2014-01-01

    Background Primary Sjögren’s Syndrome (PSS) mainly affects women (9:1 female:male ratio) and is one of the commonest autoimmune diseases with a prevalence of 0.1 – 0.6% of adult women. For patients with PSS there is currently no effective therapy that can alter the progression of the disease. The aim of the TRACTISS study is to establish whether in patients with PSS, treatment with rituximab improves clinical outcomes. Methods/design TRACTISS is a UK multi-centre, double-blind, randomised, controlled, parallel group trial of 110 patients with PSS. Patients will be randomised on a 1:1 basis to receive two courses of either rituximab or placebo infusion in addition to standard therapy, and will be followed up for up to 48 weeks. The primary objective is to assess the extent to which rituximab improves symptoms of fatigue and oral dryness. Secondary outcomes include ocular dryness, salivary flow rates, lacrimal flow, patient quality of life, measures of disease damage and disease activity, serological and peripheral blood biomarkers, and glandular histology and composition. Discussion The TRACTISS trial will provide direct evidence as to whether rituximab in patients with PSS leads to an improvement in patient symptoms and a reduction in disease damage and activity. Trial registration UKCRN Portfolio ID: 9809 ISRCTN65360827. PMID:24438039

  3. Metformin therapy in obese adolescents with polycystic ovary syndrome and impaired glucose tolerance: amelioration of exaggerated adrenal response to adrenocorticotropin with reduction of insulinemia/insulin resistance.

    PubMed

    Arslanian, Silva A; Lewy, Vered; Danadian, Kapriel; Saad, Rola

    2002-04-01

    Functional adrenal hyperandrogenism occurs in women with polycystic ovary syndrome (PCOS). Insulin, similar to its ovarian effect, may impact the regulation of adrenal steroidogenesis by modulating the activity of P450c17alpha, the rate-limiting enzyme in androgen biosynthesis. We previously demonstrated that obese adolescents with PCOS are severely insulin resistant and are at heightened risk for impaired glucose tolerance and type 2 diabetes. In the present study we tested the hypothesis that metformin therapy in obese adolescents with PCOS will attenuate the adrenal steroidogenic response to ACTH, with reduction of insulin resistance/insulinemia. Fifteen adolescents with PCOS and impaired glucose tolerance received 3 months of metformin (850 mg, twice daily) therapy. Pre- and posttherapy they had oral glucose tolerance testing, ACTH stimulation test, a 3-h hyperinsulinemic (80 mU/m(2).min)-euglycemic clamp to assess insulin sensitivity and a hyperglycemic clamp to assess insulin secretion. After 3 months of metformin treatment, glucose intolerance improved, with eight subjects having normal glucose tolerance. Total and free T decreased [1.5 +/- 0.2 vs. 1.0 +/- 0.1 nmol/liter (P = 0.022) and 41.3 +/- 8.3 vs. 22.2 +/- 2.1 pmol/liter (P = 0.028), respectively]. Insulin-stimulated glucose disposal increased (21.5 +/- 2.2 vs. 25.0 +/- 2.2 micromol/kg.min; P = 0.041). Fasting insulin and oral glucose tolerance test insulin and glucose area under the curve decreased significantly. ACTH-stimulated increases in androstenedione, 17-hydroxyprogesterone, and 17-hydroxypregnenelone were lower after metformin treatment [2.8 +/- 0.4 vs. 1.7 +/- 0.3 nmol/liter (P = 0.014), 7.0 +/- 0.6 vs. 5.3 +/- 0.5 nmol/liter (P = 0.011), and 30.4 +/- 3.7 vs. 25.7 +/- 4.2 nmol/liter (P = 0.054)]. Fasting insulin correlated with the 17-hydroxypregnenelone response to ACTH stimulation (r = 0.52; P = 0.008). In summary, metformin treatment of obese adolescents with PCOS and impaired glucose tolerance is beneficial in improving glucose tolerance and insulin sensitivity, in lowering insulinemia, and in reducing elevated androgen levels. Moreover, metformin therapy is associated with attenuation of the adrenal steroidogenic response to ACTH. Metformin therapy was well tolerated. In conclusion, double blind, placebo-controlled studies will determine whether insulin-sensitizing therapy corrects not only ovarian hyperandrogenism but also functional adrenal hyperandrogenism in adolescents with PCOS. PMID:11932281

  4. Syndromic disorders with short stature.

    PubMed

    ??klar, Zeynep; Berbero?lu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  5. Gut-directed hypnotherapy in children with irritable bowel syndrome or functional abdominal pain (syndrome): a randomized controlled trial on self exercises at home using CD versus individual therapy by qualified therapists

    PubMed Central

    2014-01-01

    Background Irritable bowel syndrome (IBS) and functional abdominal pain (syndrome) (FAP(S)) are common pediatric disorders, characterized by chronic or recurrent abdominal pain. Treatment is challenging, especially in children with persisting symptoms. Gut-directed hypnotherapy (HT) performed by a therapist has been shown to be effective in these children, but is still unavailable to many children due to costs, a lack of qualified child-hypnotherapists and because it requires a significant investment of time by child and parent(s). Home-based hypnotherapy by means of exercises on CD has been shown effective as well, and has potential benefits, such as lower costs and less time investment. The aim of this randomized controlled trial (RCT) is to compare cost-effectiveness of individual HT performed by a qualified therapist with HT by means of CD recorded self-exercises at home in children with IBS or FAP(S). Methods/Design 260 children, aged 8-18 years with IBS or FAP(S) according to Rome III criteria are included in this currently conducted RCT with a follow-up period of one year. Children are randomized to either 6 sessions of individual HT given by a qualified therapist over a 3-month period or HT through self-exercises at home with CD for 3 months. The primary outcome is the proportion of patients in which treatment is successful at the end of treatment and after one year follow-up. Treatment success is defined as at least 50% reduction in both abdominal pain frequency and intensity scores. Secondary outcomes include adequate relief, cost-effectiveness and effects of both therapies on depression and anxiety scores, somatization scores, QoL, pain beliefs and coping strategies. Discussion If the effectiveness of home-based HT with CD is comparable to, or only slightly lower, than HT by a therapist, this treatment may become an attractive form of therapy in children with IBS or FAP(S), because of its low costs and direct availability. Trial registration Dutch Trial Register number NTR2725 (date of registration: 1 February 2011) PMID:24894077

  6. Persistence and selection of an expanded B-cell clone in the setting of rituximab therapy for Sjögren’s syndrome

    PubMed Central

    2014-01-01

    Introduction Subjects with primary Sjögren’s syndrome (SjS) have an increased risk of developing B-cell lymphoma and may harbor monoclonal B-cell expansions in the peripheral blood. Expanded B-cell clones could be pathogenic, and their persistence could exacerbate disease or predispose toward the development of lymphoma. Therapy with anti-CD20 (rituximab) has the potential to eliminate expanded B-cell clones and thereby potentially ameliorate disease. This study was undertaken to identify and track expanded B-cell clones in the blood of subjects with primary SjS who were treated with rituximab. Methods To determine whether circulating B-cell clones in subjects with primary SjS emerge or remain after B cell-depleting therapy with rituximab, we studied the antibody heavy-chain repertoire. We performed single-memory B-cell and plasmablast sorting and antibody heavy-chain sequencing in six rituximab-treated SjS subjects over the course of a 1-year follow-up period. Results Expanded B-cell clones were identified in four out of the six rituximab-treated SjS subjects, based upon the independent amplification of sequences with identical or highly similar VH, DH, and JH gene segments. We identified one SjS subject with a large expanded B-cell clone that was present prior to therapy and persisted after therapy. Somatic mutations in the clone were numerous but did not increase in frequency over the course of the 1-year follow-up, suggesting that the clone had been present for a long period of time. Intriguingly, a majority of the somatic mutations in the clone were silent, suggesting that the clone was under chronic negative selection. Conclusions For some subjects with primary SjS, these data show that (a) expanded B-cell clones are readily identified in the peripheral blood, (b) some clones are not eliminated by rituximab, and (c) persistent clones may be under chronic negative selection or may not be antigen-driven. The analysis of sequence variation among members of an expanded clone may provide a novel means of measuring the chronicity and selection of expanded B-cell populations in humans. PMID:24517398

  7. DISCORDANCE BETWEEN BODY MASS INDEX AND ANTHROPOMETRIC MEASUREMENTS AMONG HIV-1-INFECTED PATIENTS ON ANTIRETROVIRAL THERAPY AND WITH LIPOATROPHY/LIPOHYPERTROPHY SYNDROME

    PubMed Central

    SOARES, Lismeia Raimundo; da SILVA, Daniela Cardeal; GONSALEZ, Claudio R.; BATISTA, Felipe G.; FONSECA, Luiz Augusto M.; DUARTE, Alberto J.S.; CASSEB, Jorge

    2015-01-01

    Introduction: Highly Active Antiretroviral Therapy (HAART) has improved and extended the lives of thousands of people living with HIV/AIDS around the world. However, this treatment can lead to the development of adverse reactions such as lipoatrophy/lipohypertrophy syndrome (LLS) and its associated risks. Objective: This study was designed to assess the prevalence of self-reported lipodystrophy and nutritional status by anthropometric measurements in patients with HIV/AIDS. Methods: An observational study of 227 adult patients in the Secondary Immunodeficiencies Outpatient Department of Dermatology, Hospital das Clínicas, Faculty of Medicine, University of São Paulo (3002 ADEE-HCFMUSP). The sample was divided into three groups; Group 1 = 92 patients on HAART and with self-reported lipodystrophy, Group 2 = 70 patients on HAART without self-reported lipodystrophy and Group 3 = 65 patients not taking HAART. The nutritional status of individuals in the study sample was determined by body mass index (BMI) and percentage of body fat (% BF). The cardiovascular risk and diseases associated with abdominal obesity were determined by waist/hip ratio (WHR) and waist circumference (WC). Results: The prevalence of self-reported lipoatrophy/lipohypertrophy syndrome was 33% among women and 59% among men. Anthropometry showed depletion of fat mass in the evaluation of the triceps (TSF) in the treatment groups with HAART and was statistically independent of gender; for men p = 0.001, and for women p = 0.007. Similar results were found in the measurement of skin folds of the upper and lower body (p = 0.001 and p = 0.003 respectively). In assessing the nutritional status of groups by BMI and % BF, excess weight and body fat were more prevalent among women compared to men (p = 0.726). The WHR and WC revealed risks for cardiovascular and other diseases associated with abdominal obesity for women on HAART and with self-reported LLS (p = 0.005) and (p = 0.011). Conclusions: Anthropometric measurements were useful in the confirmation of the prevalence of LLS. BMI alone does not appear to be a good parameter for assessing the nutritional status of HIV-infected patients on HAART and with LLS. Other anthropometric measurements are needed to evaluate patients with the lipoatrophy/lipohypertrophy syndrome. PMID:25923888

  8. Superior mesenteric artery syndrome caused by surgery and radiation therapy for a brain tumor: A case report

    PubMed Central

    LEI, QIUCHENG; WANG, XINYING; WU, CHAO; BI, JINGCHENG; ZHANG, LI

    2015-01-01

    Superior mesenteric artery syndrome (SMAS) is defined as an obstruction of the third part of duodenum due to compression by the superior mesenteric artery. Although traumatic brain injury is a risk factor for SMAS, few cases of SMAS resulting from brain surgery have been reported. SMAS has been observed to occur following neurosurgical surgery in pediatric patients but, to the best of our knowledge, no such cases have been reported in adults. The present study reports the case of a 21-year-old female patient who developed SMAS after persistent vomiting and prolonged weight loss following cerebellar tumor resection and cranial irradiation. The SMAS was confirmed by computed tomography and resolved following successful nutritional management.

  9. Metabolic Syndrome

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Metabolic Syndrome KidsHealth > Teens > Diabetes Center > Treatment & Prevention > Metabolic Syndrome ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  10. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104

  11. Efficacy and safety of meditative movement therapies in fibromyalgia syndrome: a systematic review and meta-analysis of randomized controlled trials.

    PubMed

    Langhorst, Jost; Klose, Petra; Dobos, Gustav J; Bernardy, Kathrin; Häuser, Winfried

    2013-01-01

    A systematic review with meta-analysis of the efficacy and safety of meditative movement therapies (Qigong, Tai Chi and Yoga) in fibromyalgia syndrome (FMS) was carried out. We screened Clinicaltrials.Gov, Cochrane Library, PsycINFO, PubMed and Scopus (through December 2010) and the reference sections of original studies for meditative movement therapies (MMT) in FMS. Randomized controlled trials (RCT) comparing MMT to controls were analysed. Outcomes of efficacy were pain, sleep, fatigue, depression and health-related quality of life (HRQOL). Effects were summarized using standardized mean differences (SMD [95% confidence interval]). Outcomes of safety were drop out because of adverse events and serious adverse events. A total of 7 out of 117 studies with 362 subjects and a median of 12 sessions (range 8-24) were included. MMT reduced sleep disturbances (-0.61 [-0.95, -0.27]; 0.0004), fatigue (-0.66 [-0.99, -0.34]; <0.0001), depression (-0.49 [-0.76, -0.22]; 0.0004) and limitations of HRQOL (-0.59 [-0.93, -0.24]; 0.0009), but not pain (-0.35 [-0.80, 0.11]; 0.14) compared to controls at final treatment. The significant effects on sleep disturbances (-0.52 [-0.97, -0.07]; 0.02) and HRQOL (-0.66 [-1.31, -0.01]; 0.05) could be maintained after a median of 4.5 (range 3-6) months. In subgroup analyses, only Yoga yielded significant effects on pain, fatigue, depression and HRQOL at final treatment. Drop out rate because of adverse events was 3.1%. No serious adverse events were reported. MMT are safe. Yoga had short-term beneficial effects on some key domains of FMS. There is a need for high-quality studies with larger sample sizes to confirm the results. PMID:22350253

  12. A preliminary prospective study of nutritional, psychological and combined therapies for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in a private care setting

    PubMed Central

    Arroll, Megan Anne; Howard, Alex

    2012-01-01

    Background Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a condition characterised by severe and persistent fatigue, neurological disturbances, autonomic and endocrine dysfunctions and sleep difficulties that have a pronounced and significant impact on individuals’ lives. Current National Institute for Health and Clinical Excellence guidelines within the UK suggest that this condition should be treated with cognitive behavioural therapy and/or graded exercise therapy, where appropriate. There is currently a lack of an evidence base concerning alternative techniques that may be beneficial to those with ME/CFS. Objectives This study aimed to investigate whether three modalities of psychology, nutrition and combined treatment influenced symptom report measures in those with ME/CFS over a 3-month time period and whether there were significant differences in these changes between groups. Design and setting This is a preliminary prospective study with one follow-up point conducted at a private secondary healthcare facility in London, UK. Participants 138 individuals (110 females, 79.7%; 42 participants in psychology, 44 in nutrition and 52 in combined) participated at baseline and 72 participants completed the battery of measures at follow-up (52.17% response rate; 14, 27 and 31 participants in each group, respectively). Outcome measures Self-reported measures of ME/CFS symptoms, functional ability, multidimensional fatigue and perceived control. Results Baseline comparisons showed those in the combined group had higher levels of fatigue. At follow-up, all groups saw improvements in fatigue, functional ability and symptomatology; those within the psychology group also experienced a shift in perceived control over time. Conclusions This study provides early evidence that psychological, nutritional and combined techniques for the treatment of ME/CFS may influence symptomatology, fatigue, function and perceived control. However, these results must be viewed with caution as the allocation to groups was not randomised, there was no control group and the study suffered from high drop-out rates. PMID:23166120

  13. A pilot study into the effects of music therapy on different areas of the brain of individuals with unresponsive wakefulness syndrome

    PubMed Central

    Steinhoff, Nikolaus; Heine, Astrid M.; Vogl, Julia; Weiss, Konrad; Aschraf, Asita; Hajek, Paul; Schnider, Peter; Tucek, Gerhard

    2015-01-01

    The global cerebral network allows music “ to do to us what it does.” While the same music can cause different emotions, the basic emotion of happy and sad songs can, nevertheless, be understood by most people. Consequently, the individual experience of music and its common effect on the human brain is a challenging subject for research. Various activities such as hearing, processing, and performing music provide us with different pictures of cerebral centers in PET. In comparison to these simple acts of experiencing music, the interaction and the therapeutic relationship between the patient and the therapist in Music Therapy (MT) provide us with an additional element in need of investigation. In the course of a pilot study, these problems were approached and reduced to the simple observation of pattern alteration in the brains of four individuals with Unresponsive Wakefulness Syndrome (UWS) during MT. Each patient had three PET investigations: (i) during a resting state, (ii) during the first exposure to MT, and (iii) during the last exposure to MT. Two patients in the MT group received MT for 5 weeks between the 2nd and the 3rd PET (three times a week), while two other patients in the control group had no MT in between. Tracer uptake was measured in the frontal, hippocampal, and cerebellar region of the brain. With certain differences in these three observed brain areas, the tracer uptake in the MT group was higher (34%) than in the control group after 5 weeks. The preliminary results suggest that MT activates the three brain regions described above. In this article, we present our approach to the neuroscience of MT and discuss the impact of our hypothesis on music therapy practice, neurological rehabilitation of individuals in UWS and additional neuroscientific research. PMID:26347603

  14. The Efficacy of Shugan Jianpi Zhixie Therapy for Diarrhea-Predominant Irritable Bowel Syndrome: A Meta-Analysis of Randomized, Double-Blind, Placebo-Controlled Trials

    PubMed Central

    Sun, Xiaomin; Tang, Yang; Cheng, Jingru; Wang, Tian; Li, Fei; Kuang, Yuxiang; Luo, Ren; Zhao, Xiaoshan

    2015-01-01

    Background Shugan Jianpi Zhixie therapy (SJZT) has been widely used to treat diarrhea-predominant irritable bowel syndrome (IBS-D), but the results are still controversial. A meta-analysis of randomized, double-blind, placebo-controlled trials was performed to assess the efficacy and tolerability of SJZT for IBS-D. Methods The MEDLINE, EMBASE, Cochrane Library, the China National Knowledge Infrastructure database, the Chinese Biomedical Literature database and the Wanfang database were searched up to June 2014 with no language restrictions. Summary estimates, including 95% confidence intervals (CI), were calculated for global symptom improvement, abdominal pain improvement, and Symptom Severity Scale (BSS) score. Results Seven trials (N=954) were included. The overall risk of bias assessment was low. SJZT showed significant improvement for global symptom compared to placebo (RR 1.61; 95% CI 1.24, 2.10; P =0.0004; therapeutic gain = 33.0%; number needed to treat (NNT) = 3.0). SJZT was significantly more likely to reduce overall BSS score (SMD –0.67; 95% CI –0.94, –0.40; P < 0.00001) and improve abdominal pain (RR 4.34; 95% CI 2.64, 7.14; P < 0.00001) than placebo. The adverse events of SJZT were no different from those of placebo. Conclusions This meta-analysis suggests that SJZT is an effective and safe therapy option for patients with IBS-D. However, due to the high clinical heterogeneity and small sample size of the included trials, further standardized preparation, large-scale and rigorously designed trials are needed. PMID:25853241

  15. Apoptotic adipose-derived mesenchymal stem cell therapy protects against lung and kidney injury in sepsis syndrome caused by cecal ligation puncture in rats

    PubMed Central

    2013-01-01

    Introduction We tested the hypothesis that apoptotic adipose-derived mesenchymal stem cells (A-ADMSC) are superior to healthy (H)-ADMSC in attenuating cecal ligation puncture (CLP)-induced sepsis-mediated lung and kidney injuries. Methods Adult male rats divided into group 1 (sham controls), group 2 (CLP), group 3 [CLP?+?H-ADMSC administered at 0.5, 6, and 18 hours after CLP], and group 4 [CLP?+?A-ADMSC administered as in group 3] were sacrificed 72 hours after CLP with blood, lung, and kidney collected for studies. Results White blood cell (WBC) count, circulating TNF-? and creatinine levels were higher in groups 2 and 3 than in groups 1 and 4 (all P?therapy was superior to H-ADMSC therapy in protecting major organs from damage in rats with CLP-induced sepsis syndrome. PMID:24451364

  16. Short-Term Prognosis of Mechanically Ventilated Patients With Guillain-Barré Syndrome Is Worsened by Corticosteroids as an Add-On Therapy.

    PubMed

    Wu, Xiujuan; Zhang, Bing; Li, Chunrong; Shen, Donghui; Liu, Kangding; Zhu, Jie; Zhang, Hong-Liang

    2015-10-01

    Intravenous immunoglobulin (IVIg) has been proven most effective in treating Guillain-Barré syndrome (GBS). Corticosteroids as an add-on therapy have been prescribed in severe GBS cases. However, the efficacy of intravenous corticosteroids combined with IVIg in dealing with severe GBS remains unclear. We explored the therapeutic effects of different therapeutic regimens on the short-term prognosis of GBS patients, especially the severe cases.We retrospectively analyzed the clinical data of 527 adult patients with GBS who were prescribed to different treatments from 2003 to 2014. The therapeutic effect of a treatment was evaluated by the improvement of Hughes Functional Grading Scale (HFGS) and Medical Research Council (MRC) sum score.With comparable incidence of infectious complications (P?>?0.05), more mechanically ventilated patients were found improvement after IVIg treatment than combination IVIg with intravenous corticosteroids (MRC: 97% vs. 72.4%, P??0.05) and ratio of patients who were improved after IVIg were insignificantly different from the combination therapy (MRC: 89.6% vs. 86.5%; HFGS: 69.6% vs. 61.5%; both P?>?0.05), even if the intravenous corticosteroids were initiated within 7 days after onset (P?>?0.05). In addition, supportive treatment was sufficient for patients who were able to walk with help (HFGS?=?3) and mildly affected (HFGS??3), while corticosteroids are detrimental for short-term prognosis in mechanically ventilated patients when used in combination with IVIg. Further prospective and randomized studies are warranted to validate this finding. PMID:26512609

  17. A pilot study into the effects of music therapy on different areas of the brain of individuals with unresponsive wakefulness syndrome.

    PubMed

    Steinhoff, Nikolaus; Heine, Astrid M; Vogl, Julia; Weiss, Konrad; Aschraf, Asita; Hajek, Paul; Schnider, Peter; Tucek, Gerhard

    2015-01-01

    The global cerebral network allows music " to do to us what it does." While the same music can cause different emotions, the basic emotion of happy and sad songs can, nevertheless, be understood by most people. Consequently, the individual experience of music and its common effect on the human brain is a challenging subject for research. Various activities such as hearing, processing, and performing music provide us with different pictures of cerebral centers in PET. In comparison to these simple acts of experiencing music, the interaction and the therapeutic relationship between the patient and the therapist in Music Therapy (MT) provide us with an additional element in need of investigation. In the course of a pilot study, these problems were approached and reduced to the simple observation of pattern alteration in the brains of four individuals with Unresponsive Wakefulness Syndrome (UWS) during MT. Each patient had three PET investigations: (i) during a resting state, (ii) during the first exposure to MT, and (iii) during the last exposure to MT. Two patients in the MT group received MT for 5 weeks between the 2nd and the 3rd PET (three times a week), while two other patients in the control group had no MT in between. Tracer uptake was measured in the frontal, hippocampal, and cerebellar region of the brain. With certain differences in these three observed brain areas, the tracer uptake in the MT group was higher (34%) than in the control group after 5 weeks. The preliminary results suggest that MT activates the three brain regions described above. In this article, we present our approach to the neuroscience of MT and discuss the impact of our hypothesis on music therapy practice, neurological rehabilitation of individuals in UWS and additional neuroscientific research. PMID:26347603

  18. Exploring Patients' Views of a Cognitive Behavioral Therapy-Based Website for the Self-Management of Irritable Bowel Syndrome Symptoms

    PubMed Central

    Bishop, Felicity L; Ellis, Matthew; Moss-Morris, Rona; Everitt, Hazel

    2013-01-01

    Background Cognitive behavioral therapy (CBT) has been shown to have positive effects on the management of irritable bowel syndrome (IBS) symptoms. A factorial pilot randomized placebo-controlled trial (called MIBS) tested the potential effectiveness of a self-management CBT-based website alongside two medications: methylcellulose and mebeverine, and a placebo. The results showed no significant differences in quality of life or symptom severity measures, but enablement and participant’s global assessment of relief was higher in the website groups. Objective To conduct a qualitative study nested within this trial, in order to explore patients’ views and experiences of using the CBT-based website to facilitate self-management of IBS. Methods Semistructured interviews were carried out with patients who had used the website with one session of nurse support (n=16) or the website alone (n=15) while participating in the MIBS trial. An inductive thematic analysis was conducted. Results We identified three types of engagement with the CBT-based website. One group of participants, mostly in the website-only condition, had limited or no engagement with the website. One group engaged with the content and advice on practical lifestyle changes. The final group of participants engaged with the content and advice on psychological aspects related to IBS. Similarities and differences between these three groups are explored. Conclusions Teaching self-management techniques through a Web intervention was received positively by most of the participants. Concepts linked to cognitive aspects of CBT appeared to be harder for participants to engage with. Participants who received nurse support rated the cognitive aspects more positively, suggesting that some therapy support alongside the website should be considered. However, the Web format was preferred by some who favored anonymity as well as those who appreciated the accessibility and ease of use of this type of management. Suggestions on how to encourage engagement with Web interventions are discussed. PMID:24001787

  19. Effects of early postnatal dexamethasone therapy on calcium homeostasis and bone growth in preterm infants with respiratory distress syndrome.

    PubMed

    Lin, Y J; Yeh, T F; Lin, H C; Wu, J M; Lin, C H; Yu, C Y

    1998-10-01

    The effects of dexamethasone therapy on calcium homeostasis and bone growth were evaluated in 49 infants (24 placebo and 25 dexamethasone) who participated in a double-blind trial of early dexamethasone therapy for the prevention of chronic lung disease. Dexamethasone (0.25 mg kg(-1) b.i.d. on d 1-7; 0.12 mg kg(-1) b.i.d. on d 8-14; 0.05 mg kg(-1) b.i.d. on d 15-21; 0.02 mg kg(-1) b.i.d. on d 22-28) or saline placebo was given i.v. Serum calcium (Ca), phosphorus (P) and parathyroid hormone (PTH), and the corresponding urinary excretion of calcium (FECa) and phosphorus (FEP) were measured on d 2, 3, 7, 10, 14, 21 and 28 after starting the study. Radiographic evaluations of bone growth were also evaluated. Infants in the dexamethasone group had significantly higher PTH on d 2 (p < 0.01), 7 and 14 (p < 0.05) than infants in the placebo group. The dexamethasone-treated infants also had significantly higher FEP on d 2, 7 and 14 (p < 0.05) and lower FECa on d 7 and 14 (p < 0.05) than control infants. There was no significant difference between the groups in bone growth during the study. It was concluded that early dexamethasone therapy causes a transient elevation in PTH without apparent change in bone growth. The long-term effect remains to be evaluated further. PMID:9825973

  20. Effect of local estrogen therapy (LET) on urinary and sexual symptoms in premenopausal women with interstitial cystitis/bladder pain syndrome (IC/BPS).

    PubMed

    Gardella, Barbara; Iacobone, Anna Daniela; Porru, Daniele; Musacchi, Valentina; Dominoni, Mattia; Tinelli, Carmine; Spinillo, Arsenio; Nappi, Rossella E

    2015-10-01

    The association between vulvodynia and interstitial cystitis/bladder pain syndrome (IC/BPS), a chronic, debilitating disease of unknown etiology, may involve sex hormone-dependent mechanisms regulating vulvo-vaginal health. We aimed to prospectively investigate the effects of 12 weeks of local estrogen therapy (LET) on urinary/bladder and sexual symptoms in premenopausal women with IC/BPS. Thirty-four women (mean age: 36.1?±?8.4) diagnosed with IC/BPS were treated vulvo-vaginally three-times/week with estriol 0.5?mg cream and tested by validated questionnaires (ICSI/ICPI, pain urgency frequency [PUF], female sexual function index [FSFI]) and by cotton swab testing, vaginal health index (VHI) and maturation index (MI) before and after treatment. Vulvodynia was present in 94.1% of IC/BPS women. A significant positive effect of LET was evident on urinary and sexual function (p?

  1. Effect of local estrogen therapy (LET) on urinary and sexual symptoms in premenopausal women with interstitial cystitis/bladder pain syndrome (IC/BPS).

    PubMed

    Gardella, Barbara; Iacobone, Anna Daniela; Porru, Daniele; Musacchi, Valentina; Dominoni, Mattia; Tinelli, Carmine; Spinillo, Arsenio; Nappi, Rossella E

    2015-10-01

    The association between vulvodynia and interstitial cystitis/bladder pain syndrome (IC/BPS), a chronic, debilitating disease of unknown etiology, may involve sex hormone-dependent mechanisms regulating vulvo-vaginal health. We aimed to prospectively investigate the effects of 12 weeks of local estrogen therapy (LET) on urinary/bladder and sexual symptoms in premenopausal women with IC/BPS. Thirty-four women (mean age: 36.1?±?8.4) diagnosed with IC/BPS were treated vulvo-vaginally three-times/week with estriol 0.5?mg cream and tested by validated questionnaires (ICSI/ICPI, pain urgency frequency [PUF], female sexual function index [FSFI]) and by cotton swab testing, vaginal health index (VHI) and maturation index (MI) before and after treatment. Vulvodynia was present in 94.1% of IC/BPS women. A significant positive effect of LET was evident on urinary and sexual function (p?

  2. Metabolic syndrome and chronic simvastatin therapy enhanced human cardiomyocyte stress before and after ischemia-reperfusion in cardio-pulmonary bypass patients.

    PubMed

    Corsetti, G; Pasini, E; Ferrari-Vivaldi, M; Romano, C; Bonomini, F; Tasca, G; Dioguardi, F S; Rezzani, R; Assanelli, D

    2012-01-01

    Metabolic syndrome (MetS) is a set of metabolic alterations including high levels of low-density lipoprotein (LDL), which increase the risk of cardiomyopathy often leading to surgery. Despite inducing myopathy, statins are widely used to lower LDL. Cardiopulmonary bypass (Cpb) causes oxidative stress and metabolic injury, altering mitochondrial expression (Grp75) and endoplasmic reticulum (Grp78) chaperones, apoptotic enzymes (Bcl2 family) and increasing cardiomyocyte lipid/lipofuscin storage. We believe that cardiomyocytes from patients with MetS may be more sensitive to surgical stress, in particular after simvastatin therapy (MetS+Stat). The study group included ten patients with MetS, ten patients with Mets+Stat and ten healthy subjects. Myocardial biopsies were obtained both before and after-Cpb. Grp75, Grp78, Bax, Bcl2, lipids, lipofuscin and fibrosis were evaluated by immuno/histochemistry. MetS cardiomyocytes had higher Grp75, Bax, fibrosis and lipofuscin. MetS+Stat had lower Grp75 and higher Grp78 expressions, high Bax, fewer fibrosis and higher lipofuscin content. Cpb did not vary the fibrosis and lipids/lipofuscin content, although it influenced the chaperones and Bax expression in all groups. These changes were more profound in patients with MetS and even more so in patients with MetS+Stat. The results suggest that MetS and MetS+Stat cardiomyocytes were more highly stressed after-Cpb. Interestingly, simvastatin caused high stress even before-Cpb. PMID:23298496

  3. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  4. Effects of PPAR? and RBP4 Gene Variants on Metabolic Syndrome in HIV-Infected Patients with Anti-Retroviral Therapy

    PubMed Central

    Hung, Yuan-Pin; Lee, Nan-Yao; Lin, Sheng-Hsiang; Chang, Ho-Ching; Wu, Chi-Jung; Chang, Chia-Ming; Chen, Po-Lin; Lin, Hsiao-Ju; Wu, Yi-Hui; Tsai, Pei-Jane

    2012-01-01

    Background PPAR? and RBP4 are known to regulate lipid and glucose metabolism and insulin resistance. The influences of PPAR? (C1431T and Pro12Ala) and RBP4 (?803GA) polymorphisms on metabolic syndrome in HIV-infected patients receiving anti-retroviral therapy were examined in this study. Materials and Methods A cross-sectional study of HIV-1 infected adults with antiretroviral therapy for more than one year in the National Cheng Kung University Hospital was conducted. The gene polymorphisms were determined by quantitative PCR. Results Ninety-one patients were included in the study. Eighty-two (90.1%) patients were males with a mean age of 44.4 years. For the C1431T polymorphism in PPAR?, while patients with the T allele (48.4%) had trends toward lower rate of hypertriglyceridemia, the borderline significance together with insignificant power did not support the protective effect of the T allele against development of hypertriglyceridemia. For the Pro12Ala polymorphism in PPAR?, although patients with the Pro/Ala genotype (8.8%) had a higher level of serum LDL (138.0 vs. 111.5 mg/dl, P?=?0.04) and trends toward higher rates of hypercholesterolemia and serum LDL>110 mg/dl, these variables were found to be independent of the Pro/Ala genotype in the multivariate analysis. For the ?803GA polymorphism in RBP4, patients with the A allele (23.1%) more often had insulin resistance (HOMA>3.8; 33.3 vs. 8.7%, P?=?0.01) and more often received anti-hypoglycemic drugs (14.3 vs. 1.4%, P?=?0.04). The detrimental effect of the A allele in RBP4 ?803GA polymorphism on development of insulin resistance was supported by the multivariate analysis adjusting for covariates. Conclusion The impacts of PPAR? C1431T and Pro12Ala polymorphisms on metabolism in HIV-infected patients are not significant. RBP4 ?803GA polymorphism has increased risk of insulin resistance in HIV-infected patients with anti-retroviral therapy. PMID:23145084

  5. Molecular mechanisms of the progression of myelodysplastic syndrome to secondary acute myeloid leukaemia and implication for therapy.

    PubMed

    Dan, Chunli; Chi, Jianxiang; Wang, Li

    2015-05-01

    Myelodysplastic syndrome (MDS) includes a heterogeneous group of clonal haematological stem cell disorders characterized by dysplasia, cytopenias, ineffective haematopoiesis, and an increased risk of progression to acute myeloid leukaemia (AML), which is also called secondary AML (sAML). Approximately one-third of patients with MDS will progress to sAML within a few months to a few years, and this type of transformation is more common and rapid in patients with high-risk MDS (HR-MDS). However, the precise mechanisms underlying the evolution of MDS to sAML remain unclear. Currently, chemotherapy for sAML has minimal efficacy. The only method of curing patients with sAML is allogeneic haematopoietic stem cell transplantation (Allo-HSCT). Unfortunately, only a few patients are appropriate for transplantation because this disease primarily affects older adult patients. Additionally, compared to de novo AML, sAML is more difficult to cure, and the prognosis is often worse. Therefore, it is important to clarify the molecular mechanisms of the progression of MDS to sAML and to explore the potent drugs for clinical use. This review will highlight several molecular mechanisms of the progression of MDS to sAML and new therapeutic strategies of this disease. PMID:25861829

  6. Probiotic Therapy of the Irritable Bowel Syndrome: Why Is the Evidence Still Poor and What Can Be Done About It?

    PubMed Central

    Mazurak, Nazar; Broelz, Ellen; Storr, Martin; Enck, Paul

    2015-01-01

    Background/Aims Despite numerous randomized clinical trials and meta-analyses, there is no increased evidence for the efficacy of probiotics in the treatment of irritable bowel syndrome (IBS). We review this evidence, identify and analyse the reasons for this lack of evidence and propose methodological improvements for future studies. Methods Based on a literature search, we identified 56 papers that matched the purpose of our analyses. Twenty-seven studies used multi-species bacterial preparations and 29 used single-strain probiotics. They were analysed regarding patients included, treatment duration, probiotic dosage, and outcome measures. Results Trials in both groups suffered from heterogeneity with respect to probiotic concentration, duration of treatment, and other methodological issues (crossover design and underpowered studies). This heterogeneity did not allow the application of a meta-analytic approach and a systematic review was therefore performed instead. Multi-strain preparations combined 2 to 8 different bacterial subspecies, mostly lactobacilli or bifidobacteria, and used variable lengths of treatments. Overall, more than 50% of trials presented negative outcomes. The majority of the single-strain probiotic trials employing lactobacilli or Saccharomyces were negative, whereas trials employing bifidobacteria showed positive results. Conclusions The heterogeneity of the studies of probiotics in IBS questions the value of meta-analyses. The use of different bacterial strains and different mixtures of these strains, as well as different dosages, are the main contributors to this heterogeneity. Current data provides limited evidence for the efficacy of a small number of single-strain probiotics in IBS (mostly bifidobacteria) and sound studies following strict trial guidelines (Food and Drug Administration and European Medicines Agency guidelines for clinical trials) are needed. We summarised and proposed some methodological issues for future studies in the field. PMID:26351253

  7. Single vs double antiplatelet therapy in acute coronary syndrome: Predictors of bleeding after coronary artery bypass grafting

    PubMed Central

    Tarzia, Vincenzo; Bortolussi, Giacomo; Buratto, Edward; Paolini, Carla; Dal Lin, Carlo; Rizzoli, Giulio; Bottio, Tomaso; Gerosa, Gino

    2015-01-01

    AIM: To investigate the contribution of anti-platelet therapy and derangements of pre-operative classical coagulation and thromboelastometry parameters to major bleeding post-coronary artery bypass grafting (CABG). METHODS: Two groups of CABG patients were studied: Group A, treated with aspirin alone (n = 50), and Group B treated with aspirin and clopidogrel (n = 50). Both had similar preoperative, clinical, biologic characteristics and operative management. Classic coagulation parameters and rotational thromboelastometry (ROTEM) profiles were determined preoperatively for both groups and the same heparin treatment was administered. ROTEM profiles (INTEM and EXTEM assays) were analyzed, both for traditional parameters, and thrombin generation potential, expressed by area-under-curve (AUC). RESULTS: There was no significant difference between rates of major bleeding between patients treated with aspirin alone, compared with those treated with aspirin and clopidogrel (12% vs 16%, P = 0.77). In the 14 cases of major bleeding, pre-operative classic coagulation and traditional ROTEM parameters were comparable. Conversely we observed that the AUC in the EXTEM test was significantly lower in bleeders (5030 ± 1115 Ohm*min) than non-bleeders (6568 ± 548 Ohm*min) (P < 0.0001). CONCLUSION: We observed that patients with a low AUC value were at a significantly higher risk of bleeding compared to patients with higher AUC, regardless of antiplatelet treatment. This suggests that thrombin generation potential, irrespective of the degree of platelet inhibition, correlates with surgical bleeding. PMID:26413234

  8. Clinically Combating Reward Deficiency Syndrome (RDS) with Dopamine Agonist Therapy as a Paradigm Shift: Dopamine for Dinner?

    PubMed

    Blum, Kenneth; Febo, Marcelo; Thanos, Panayotis K; Baron, David; Fratantonio, James; Gold, Mark

    2015-12-01

    Everyday, there are several millions of people that are increasingly unable to combat their frustrating and even fatal romance with getting high and/or experiencing "normal" feelings of well-being. In the USA, the FDA has approved pharmaceuticals for drug and alcohol abuse: tobacco and nicotine replacement therapy. The National Institute on Drug Abuse (NIDA) and the National Institute on Alcohol Abuse and Alcoholism (NIAAA) remarkably continue to provide an increasing understanding of the intricate functions of brain reward circuitry through sophisticated neuroimaging and molecular genetic applied technology. Similar work is intensely investigated on a worldwide basis with enhanced clarity and increased interaction between not only individual scientists but across many disciplines. However, while it is universally agreed that dopamine is a major neurotransmitter in terms of reward dependence, there remains controversy regarding how to modulate its role clinically to treat and prevent relapse for both substance and non-substance-related addictive behaviors. While the existing FDA-approved medications promote blocking dopamine, we argue that a more prudent paradigm shift should be biphasic-short-term blockade and long-term upregulation, enhancing functional connectivity of brain reward circuits. PMID:25750061

  9. Isaacs syndrome: A review.

    PubMed

    Ahmed, Aiesha; Simmons, Zachary

    2015-07-01

    Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. PMID:25736532

  10. High-resolution epitope mapping by HX MS reveals the pathogenic mechanism and a possible therapy for autoimmune TTP syndrome.

    PubMed

    Casina, Veronica C; Hu, Wenbing; Mao, Jian-Hua; Lu, Rui-Nan; Hanby, Hayley A; Pickens, Brandy; Kan, Zhong-Yuan; Lim, Woon K; Mayne, Leland; Ostertag, Eric M; Kacir, Stephen; Siegel, Don L; Englander, S Walter; Zheng, X Long

    2015-08-01

    Acquired thrombotic thrombocytopenic purpura (TTP), a thrombotic disorder that is fatal in almost all cases if not treated promptly, is primarily caused by IgG-type autoantibodies that inhibit the ability of the ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) metalloprotease to cleave von Willebrand factor (VWF). Because the mechanism of autoantibody-mediated inhibition of ADAMTS13 activity is not known, the only effective therapy so far is repeated whole-body plasma exchange. We used hydrogen-deuterium exchange mass spectrometry (HX MS) to determine the ADAMTS13 binding epitope for three representative human monoclonal autoantibodies, isolated from TTP patients by phage display as tethered single-chain fragments of the variable regions (scFvs). All three scFvs bind the same conformationally discontinuous epitopic region on five small solvent-exposed loops in the spacer domain of ADAMTS13. The same epitopic region is also bound by most polyclonal IgG autoantibodies in 23 TTP patients that we tested. The ability of ADAMTS13 to proteolyze VWF is impaired by the binding of autoantibodies at the epitopic loops in the spacer domain, by the deletion of individual epitopic loops, and by some local mutations. Structural considerations and HX MS results rule out any disruptive structure change effect in the distant ADAMTS13 metalloprotease domain. Instead, it appears that the same ADAMTS13 loop segments that bind the autoantibodies are also responsible for correct binding to the VWF substrate. If so, the autoantibodies must prevent VWF proteolysis simply by physically blocking normal ADAMTS13 to VWF interaction. These results point to the mechanism for autoantibody action and an avenue for therapeutic intervention. PMID:26203127

  11. Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

    PubMed

    Schroeder, A Sebastian; Kappler, Matthias; Bonfert, Michaela; Borggraefe, Ingo; Schoen, Carola; Reiter, Karl

    2010-12-01

    MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing enteropathy, hepatopathy, and thrombotic events, whereas neurologic development remains unaffected. Dietary supplementation of mannose can reverse clinical symptoms by entering the N-glycosylation pathway downstream of MPI. When oral intake of mannose in patients with MPI-CDG is not possible, e.g. due to surgery, mannose has to be given intravenously. We report a patient with MPI-CDG on intravenous mannose therapy that showed severe depression of consciousness and seizures without apparent cause. EEG and cranial MRI findings were compatible with metabolic coma whereas extended laboratory examinations including repeated blood glucose measurements were normal. Importantly, an intravenous bolus of glucose immediately led to clinical recovery and EEG improvement. Mannose did not interfere with glucose measurement in our assay. We suggest that in patients with MPI-CDG, intravenous mannose infusion can lead to intracellular ATP deprivation due to several mechanisms: (1) in MPI deficiency, mannose 6-P cannot be isomerised to fructose 6-P and therefore is unavailable for glycolysis; (2) animal data has shown that accumulating intracellular mannose 6-P inhibits glycolysis; and (3) elevated intracellular mannose 6-P may induce an ATP wasting cycle of dephosphorylation and rephosphorylation ("honey bee effect"). The mannose-induced metabolic inhibition may be overcome by high-dose glucose treatment. We caution that, in patients with MPI-CDG, life-threatening central nervous system disturbances may occur with intravenous mannose treatment. These may be due to intracellular energy failure. Clinical symptoms of energy deficiency should be treated early and aggressively with intravenous glucose regardless of blood glucose levels. PMID:21240668

  12. Health economics perspective of fesoterodine, tolterodine or solifenacin as first-time therapy for overactive bladder syndrome in the primary care setting in Spain

    PubMed Central

    2013-01-01

    Background Overactive bladder (OAB) is associated with high healthcare costs, which may be partially driven by drug treatment. There is little comparative data on antimuscarinic drugs with respect to resource use and costs. This study was conducted to address this gap and the growing need for naturalistic studies comparing health economics outcomes in adult patients with OAB syndrome initiating treatment with different antimuscarinic drugs in a primary care setting in Spain. Methods Medical records from the databases of primary healthcare centres in three locations in Spain were assessed retrospectively. Men and women ?18 years of age who initiated treatment with fesoterodine, tolterodine or solifenacin for OAB between 2008 and 2010 were followed for 52 weeks. Healthcare resource utilization and related costs in the Spanish National Health System were compared. Comparisons among drugs were made using multivariate general linear models adjusted for location, age, sex, time since diagnosis, Charlson comorbidity index, and medication possession ratio. Results A total of 1,971 medical records of patients (58.3% women; mean age, 70.1 [SD:10.6] years) initiating treatment with fesoterodine (n?=?302), solifenacin (n?=?952) or tolterodine (n?=?717) were examined. Annual mean cost per patient was €1798 (95% CI: €1745; €1848). Adjusted mean (95% bootstrap CI) healthcare costs were significantly lower in patients receiving fesoterodine (€1639 [1542; 1725]) compared with solifenacin (€1780 [€1699; €1854], P?=?0.022) or tolterodine (€1893 [€1815; €1969], P?=?0.001). Cost differences occurred because of significantly fewer medical visits, and less use of absorbent products and OAB-related concomitant medication in the fesoterodine group. Conclusions Compared with solifenacin and tolterodine, fesoterodine was a cost-saving therapy for treatment of OAB in the primary care setting in Spain. PMID:24144225

  13. The role of anti-Mullerian hormone and inhibin B in the assessment of metformin therapy in women with polycystic ovarian syndrome

    PubMed Central

    Saleh, Basil O.; Ibraheem, Wasan F.; Ameen, Nada S.

    2015-01-01

    Objectives: To evaluate the role of anti-Mullerian hormone (AMH) and inhibin B in the evaluation of the effectiveness of short- (3 months) and long-term (6 months or more) metformin therapy in Iraqi women with polycystic ovarian syndrome (PCOS). Methods: This cross-sectional study was carried out at the Biochemistry Department, College of Medicine, University of Baghdad, Baghdad, Iraq from June 2010 to May 2011. It included 38 volunteers of women patients with PCOS, aged 18-38 years, who were classified into: Group I (GI, n=20); Group II included women in GI that were followed up after they were treated with metformin hydrochloride tablet 500 mg 3 times daily for 3 months; and GIII included 18 women that were already on metformin hydrochloride treatment 500 mg tablet 3 times daily for 6 months to 3 years. Investigations included serum measurement of insulin, AMH, inhibin B, androgen hormones using enzyme-linked immunosorbent assay, and mini Vidus techniques. Results: The mean ± standard error of the mean value of serum AMH levels was significantly decreased in post metformin treatment women (3 months; GII) compared with those before treatment (GI), and those women on prolonged treatment (GIII) (p<0.01 for both). However, there was no significant difference in serum AMH between GI and GIII. With respect to serum inhibin B, both women of GI and GII had significant decrease compared with GIII, with no significant changes between GI and GII. Conclusion: This study showed the efficacy of serum AMH measurement as a prognostic biochemical marker in the follow up of metformin treatment of PCOS women. PMID:25935176

  14. Asperger syndrome and anxiety disorders (PAsSA) treatment trial: a study protocol of a pilot, multicentre, single-blind, randomised crossover trial of group cognitive behavioural therapy

    PubMed Central

    Langdon, Peter E; Murphy, Glynis H; Wilson, Edward; Shepstone, Lee; Fowler, David; Heavens, David; Malovic, Aida; Russell, Alexandra

    2013-01-01

    Introduction A number of studies have established that children, adolescents and adults with Asperger syndrome (AS) and high functioning autism (HFA) have significant problems with anxiety. Cognitive behavioural therapy (CBT) is an effective treatment for anxiety in a variety of clinical populations. There is a growing interest in exploring the effectiveness of CBT for people with AS who have mental health problems, but currently there are no known clinical trials involving adults with AS or HFA. Studies with children who have AS have reported some success. The current study aims to examine whether modified group CBT for clinically significant anxiety in an AS population is likely to be efficacious. Methods and analysis This study is a randomised, single-blind crossover trial. At least 36 individuals will be recruited and randomised into a treatment arm or a waiting-list control arm. During treatment, individuals will receive 3 sessions of individual CBT, followed by 21 sessions of group CBT. Primary outcome measures focus on anxiety. Secondary outcome measures focus on everyday social and psychiatric functioning, additional measures of anxiety and fear, depression, health-related quality of life and treatment cost. Assessments will be administered at pregroup and postgroup and at follow-up by researchers who are blinded to group allocation. The trial aims to find out whether or not psychological treatments for anxiety can be adapted and used to successfully treat the anxiety experienced by people with AS. Furthermore, we aim to determine whether this intervention represents good value for money. Ethics and dissemination The trial received a favourable ethical opinion from a National Health Service (NHS) Research Ethics Committee. All participants provided written informed consent. Findings will be shared with all trial participants, and the general public, as well as the scientific community. Trial Registration ISRCTN 30265294 (DOI: 10.1186/ISRCTN30265294), UKCRN 8370. PMID:23901031

  15. Metformin therapy is associated with a decrease in plasma plasminogen activator inhibitor-1, lipoprotein(a), and immunoreactive insulin levels in patients with the polycystic ovary syndrome.

    PubMed

    Velazquez, E M; Mendoza, S G; Wang, P; Glueck, C J

    1997-04-01

    Sixteen nondiabetic women with polycystic ovary syndrome (PCOS) aged 18 to 33 years were studied before and after 8 weeks on metformin (1.5 g/d) therapy to assess whether reducing hyperinsulinemia would reduce the levels of the major inhibitor of fibrinolysis, antigenic plasminogen activator inhibitor type 1 (PAI-1). Compared with six normal control women, PCOS women had a higher body mass index (BMI), waist to hip ratio, fasting insulin (Izero), insulin area under the curve during oral glucose tolerance testing (IA), glucose area under the curve during oral glucose tolerance testing (GA), IA/GA ratio, PAI-1, luteinizing hormone (LH) and ratio of LH to follicle-stimulating hormone (FSH), and free testosterone, and lower high-density lipoprotein (HDL) cholesterol (all P < .025). On metformin, BMI decreased 1.3% (P = .04), Izero 43% (P = .002), IA 31% (P = .03), GA 11% (P = .02), PAI-1 16% (P = .01), lipoprotein(a) [Lp(a)] 42% (P = .004), free testosterone 46% (P = .0006), LH 44% (P = .004), and the LH/FSH ratio 41% (P = .0001). On metformin, absolute and percent reductions in Izero correlated with absolute and percent reductions in PAI-1 (r = .60, P = .015 and r = .64, P = .008). On metformin, by stepwise multiple regression, the absolute reduction in Izero was a significant determinant of the absolute reduction in PAI-1 (partial R2 = 35%, P = .02), and the percent reduction in Izero was a significant determinant of the percent reduction in PAI-1 (partial R2 = 52%, P = .003). Metformin decreases Izero in hyperinsulinemic PCOS patients, reverses the hyperinsulinemia-driven endocrinopathy, decreases PAI-1, and decreases Lp(a), and should thus reduce the increased risk of atherothrombosis in PCOS. PMID:9109854

  16. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  17. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  18. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  19. Genetics Home Reference: Wolfram syndrome

    MedlinePLUS

    ... carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have ... who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, ...

  20. Complex regional pain syndrome.

    PubMed

    Bruehl, Stephen

    2015-01-01

    Complex regional pain syndrome is a chronic pain condition characterized by autonomic and inflammatory features. It occurs acutely in about 7% of patients who have limb fractures, limb surgery, or other injuries. Many cases resolve within the first year, with a smaller subset progressing to the chronic form. This transition is often paralleled by a change from "warm complex regional pain syndrome," with inflammatory characteristics dominant, to "cold complex regional pain syndrome" in which autonomic features dominate. Multiple peripheral and central mechanisms seem to be involved, the relative contributions of which may differ between individuals and over time. Possible contributors include peripheral and central sensitization, autonomic changes and sympatho-afferent coupling, inflammatory and immune alterations, brain changes, and genetic and psychological factors. The syndrome is diagnosed purely on the basis of clinical signs and symptoms. Effective management of the chronic form of the syndrome is often challenging. Few high quality randomized controlled trials are available to support the efficacy of the most commonly used interventions. Reviews of available randomized trials suggest that physical and occupational therapy (including graded motor imagery and mirror therapy), bisphosphonates, calcitonin, subanesthetic intravenous ketamine, free radical scavengers, oral corticosteroids, and spinal cord stimulation may be effective treatments. Multidisciplinary clinical care, which centers around functionally focused therapies is recommended. Other interventions are used to facilitate engagement in functional therapies and to improve quality of life. PMID:26224572

  1. [Schizophrenia or Asperger syndrome?].

    PubMed

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François

    2008-09-01

    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning. PMID:18417316

  2. [Dietary therapy of epilepsy].

    PubMed

    Imai, Katsumi; Ishihara, Eiko; Ikeda, Hiroko

    2014-05-01

    Reappraisal of ketogenic diets (KD) were delayed in Japan compared to USA and Korea. The reasons are unknown, but possible explanations are (1) Japanese food culture prefers rice and less fat and (2) ACTH therapy is preferred for West syndrome in Japan. Since Japanese child neurologists were surprised at dramatic effects on glucose transporter 1 deficiency syndrome (Glut-1DS) in 2003, KD have been slowly accepted for treatment of epilepsy in Japan. New generation KD including modified Atkins diet (mAD) are preferred to classical KD. KD can be causal therapy in Glut-1DS and some of mitochondrial disorders, though anti-epileptic drugs are symptomatic therapy. KD can alleviate intractable seizures in epilepsies with brain malformation in addition to West syndrome and Dravet syndrome, etc. KD may work for brain tumor, cancer, neurodegenerative disorders including Alzheimer's disease. C7-8 triglycerides or fatty acid esters are under development as medicines replacing KD. PMID:24912289

  3. Central dazzle. A thalamic syndrome?

    PubMed

    Cummings, J L; Gittinger, J W

    1981-06-01

    A patient who experienced painless intolerance to light (dazzle) three months after a right posterior cerebral artery occlusion was shown by computerized tomography to have right occipital and right thalamic infarctions. His symptoms improved with amitriptyline hydrochloride and perphenazine therapy. The sensitivity to light, delayed onset, response to therapy, and presence of a thalamic lesion are analogous to the thalamic pain syndrome and suggest that central dazzle is a variant of the thalamic syndrome. PMID:7236068

  4. Radiation nephritis causing nephrotic syndrome

    SciTech Connect

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  5. Hemifacial Erythema in Right Unilateral Electroconvulsive Therapy.

    PubMed

    Kellner, Charles H; Pham, Tony V; Aloysi, Amy S; Majeske, Matthew F; Bryson, Ethan O

    2015-09-01

    We present a case of transient right hemifacial rash after right unilateral electroconvulsive therapy. This phenomenon may have similarities with the cranial dysautonomia, Harlequin syndrome. PMID:25634567

  6. Socio-Economic Status: A Barrier to Access to Mandibular Advancement Device Therapy for Patients with Obstructive Sleep Apnea Syndrome in France

    PubMed Central

    Fleury, Marion; Le Vaillant, Marc; Pelletier-Fleury, Nathalie

    2015-01-01

    Background Obstructive sleep apnea syndrome (OSAS) is a major public health problem which affects between 5 to 10% of the general population. OSAS is known to be associated with high rates of morbidity and mortality mainly due to cardiovascular diseases and traffic accidents. The burden of illness is high for the individual and society. There are 2 treatment options for OSAS, Continuous Positive Airway Pressure (CPAP) and Mandibular Advancement Device therapy (MAD). CPAP is known to be an effective but very constraining treatment. Patients are usually poorly adherent. MAD is a more recent treatment easier to use and consequently better tolerated, but MAD can only be prescribed to patients with satisfactory oral hygiene. Oral health constitutes a real issue particularly among underprivileged groups in France. Through this link, the question of whether low socio-economic status constitutes a barrier to access to care for patients with OSAS is raised. Methods and Principal Findings In a multicenter prospective cohort of 2822 consecutive OSAS patients in whom MAD has been proposed as an alternative to CPAP between May 15, 2007 and December 1st, 2014, we identified the factors that lead to a patient diagnosed with OSAS to be treated by MAD instead of CPAP. A logistic regression was performed using a stepwise forward procedure. The main outcome of the study was that treatment by MAD was significantly associated with both educational attainment, as determined by the age at which the patient left full-time education, ?18 years compared with <18 (adjusted odds ratio (aOR): 1.64, 95% CI 1.23 to 2.20), and the patient's occupational category. Executives and higher intellectual professions, intermediate professions, technicians, foremen and employees were significantly more likely to be treated by MAD than workers (aOR: 2.21, 95% CI 1.88 to 2.58; aOR: 1.74, 95% CI 1.15 to 2.63; aOR: 1.96, 95% CI 1.11 to 3.47, respectively). Conclusions Overall, these results suggest that low socio-economic status constitutes a barrier to access to MAD for patients with OSAS in France. MAD use in patients with OSAS highlights inequalities in health care access. PMID:26402443

  7. Efficacy of Kisspeptin-54 to Trigger Oocyte Maturation in Women at High Risk of Ovarian Hyperstimulation Syndrome (OHSS) During In Vitro Fertilization (IVF) Therapy

    PubMed Central

    Abbara, Ali; Jayasena, Channa N.; Christopoulos, Georgios; Narayanaswamy, Shakunthala; Izzi-Engbeaya, Chioma; Nijher, Gurjinder M. K.; Comninos, Alexander N.; Peters, Deborah; Buckley, Adam; Ratnasabapathy, Risheka; Prague, Julia K.; Salim, Rehan; Lavery, Stuart A.; Bloom, Stephen R.; Szigeti, Matyas; Ashby, Deborah A.; Trew, Geoffrey H.

    2015-01-01

    Context: In vitro fertilization (IVF) treatment is an effective therapy for infertility, but can result in the potentially life-threatening complication, ovarian hyperstimulation syndrome (OHSS). Objective: This study aimed to investigate whether kisspeptin-54 can be used to effectively and safely trigger oocyte maturation in women undergoing IVF treatment at high risk of developing OHSS. Setting and Design: This was a phase 2, multi-dose, open-label, randomized clinical trial of 60 women at high risk of developing OHSS carried out during 2013–2014 at Hammersmith Hospital IVF unit, London, United Kingdom. Intervention: Following a standard recombinant FSH/GnRH antagonist protocol, patients were randomly assigned to receive a single injection of kisspeptin-54 to trigger oocyte maturation using an adaptive design for dose allocation (3.2 nmol/kg, n = 5; 6.4 nmol/kg, n = 20; 9.6 nmol/kg, n = 15; 12.8 nmol/kg, n = 20). Oocytes were retrieved 36 h after kisspeptin-54 administration, assessed for maturation, and fertilized by intracytoplasmic sperm injection with subsequent transfer of one or two embryos. Women were routinely screened for the development of OHSS. Main Outcome Measure: Oocyte maturation was measured by oocyte yield (percentage of mature oocytes retrieved from follicles ? 14 mm on ultrasound). Secondary outcomes include rates of OHSS and pregnancy. Results: Oocyte maturation occurred in 95% of women. Highest oocyte yield (121%) was observed following 12.8 nmol/kg kisspeptin-54, which was +69% (confidence interval, ?16–153%) greater than following 3.2 nmol/kg. At all doses of kisspeptin-54, biochemical pregnancy, clinical pregnancy, and live birth rates per transfer (n = 51) were 63, 53, and 45%, respectively. Highest pregnancy rates were observed following 9.6 nmol/kg kisspeptin-54 (85, 77, and 62%, respectively). No woman developed moderate, severe, or critical OHSS. Conclusion: Kisspeptin-54 is a promising approach to effectively and safely trigger oocyte maturation in women undergoing IVF treatment at high risk of developing OHSS. PMID:26192876

  8. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

    PubMed Central

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute ?rst-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome. PMID:25548619

  9. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  10. Tics and Tourette Syndrome

    MedlinePLUS

    ... the medicines used to treat Tourette syndrome may cause side effects. ... and around other kids? Is there a medicine that could help my child? Could my child also have attention-deficit hyperactivity disorder (ADHD)? Are there other therapies that could help ...

  11. Neuroleptic Malignant Syndrome

    MedlinePLUS

    ... weeks of treatment with the drug; however, the disorder may develop any time during the therapy period. The syndrome can also occur in people ... Trials Organizations Column1 Column2 National Organization for Rare Disorders (NORD) ... Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798- ...

  12. Investigating the role of psychological flexibility and the use of an acceptance and commitment therapy based intervention in irritable bowel syndrome 

    E-print Network

    Ferreira, Nuno Monteiro Da Rocha Bravo

    2011-11-25

    Irritable Bowel Syndrome (IBS) is a common chronic illness thought to be originated and maintained by a combination of physiological, psychological and social factors. IBS is known to be associated with a high psychosocial ...

  13. [Comprehensive therapy of cerebral and cerebrovascular decompensation (author's transl)].

    PubMed

    Hofmann, G

    1980-06-01

    Many psychiatric syndroms in older age are based on cerebral and cerebrovascular decompensation. Diagnosis of metabolic dysfunction or vascular dysregulation--leading to cerebral decompensation--and their therapy is of greater importance than immediate therapy of psychiatric syndroms. We use Strophantin therapy, hemodilation, stabilization of blood pressure, antidiabetics combined with mild sedation by low dose neuroleptics. After achieving metabolic and cerebrovascular equilibrium we start more or less specific psychiatric syndrom therapy like antidepressants. PMID:6109459

  14. Turner Syndrome

    PubMed Central

    Kesler, SR

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includes strengths in verbal domains with impairments in visual-spatial, executive function and emotion processing. Genetic analyses have identified the short stature homeobox (SHOX) gene as being a candidate gene for short stature and other skeletal abnormalities associated with TS but currently the gene or genes associated with cognitive impairments remain unknown. However, significant progress has been made in describing neurodevelopmental and neurobiologic factors underlying these impairments and potential interventions are on the horizon. Less is known regarding psychosocial and psychiatric functioning in TS but essential aspects of psychotherapeutic treatment plans are suggested in this report. Future investigations of TS should include continued genetic studies such as microarray analyses and determination of candidate genes for both physical and cognitive features. Multimodal, interdisciplinary studies will be essential for identifying optimal, syndrome-specific interventions for improving the lives of individuals with TS. PMID:17562588

  15. Metabolic Syndrome

    MedlinePLUS

    ... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of risk ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

  16. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  17. Gardner Syndrome

    MedlinePLUS

    ... Gardner syndrome? Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP) , which usually causes benign, ... is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation, meaning an alteration in the APC ...

  18. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  19. Down Syndrome

    MedlinePLUS

    ... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  20. Cushing's Syndrome

    MedlinePLUS

    ... being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare endocrine ... and cure the disorder. NIH Patient Recruitment for Cushing's Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

  1. Brown Syndrome

    MedlinePLUS

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  2. Dravet Syndrome

    MedlinePLUS

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  3. Endovascular Management of May-Thurner Syndrome

    PubMed Central

    Al Safran, Zakareya; Hasan, Hosam; Zeid, Wael Abu

    2012-01-01

    May-Thurner syndrome or iliac vein compression syndrome is associated with deep vein thrombosis (DVT) resulting from chronic compression of the left iliac vein against lumbar vertebrae by the overlying right common iliac artery. Historically, May-Thurner syndrome has been treated with anticoagulation therapy. However, this therapy can be problematic when given alone, because it prevents the propagation of the thrombus without eliminating the existing clot. Furthermore, it does not treat the underlying mechanical compression. Consequently, syndrome who was managed by anticoagulation therapy alone, there is a significant chance that the patient will develop recurrent deep vein thrombosis or post thrombotic syndrome or both. Recently, both retrospective and prospective studies have suggested that endovascular management should be front-line treatment; endovascular management actively treats both the mechanical compression with stent placement and the thrombus burden with chemical dissolution. We report our case of 53 years old male patient with May Thurner syndrome who managed by endovascular treatment. PMID:23555515

  4. [New aspects of hormone replacement therapy].

    PubMed

    Fait, Tomáš

    2014-11-01

    All existing recommendations sign hormone replacement therapy (HRT) as first therapy for acute climacteric syndrome. The low dose vaginal therapy is the first choice for prevention and therapy of urogenital atrophy and its complications. Early start of HRT has neutral or slightly beneficial influence on ischaemic heart disease. It is sure that HRT is effective in prevention and therapy of postmenopausal osteoporosis. Long term therapy must be individualized on base of benefits to risks ratio with differences by type of HRT. PMID:25600040

  5. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  6. Treatment Approaches in Down's Syndrome: A Review.

    ERIC Educational Resources Information Center

    Foreman, Philip J.; Ward, James

    1986-01-01

    The paper reviews research into treatment approaches in Down's Syndrome. Pharmacological treatments reviewed include thyroid therapy, 5-hydroxytryptophan, vitamin therapy, and cell therapy. Other treatments considered are movement patterning, early intervention, and facial surgery. Early educational intervention is seen as the most effective…

  7. Eisenmenger syndrome: recent advances in pharmacotherapy.

    PubMed

    Said, Sarmad; Porres-Aguilar, Mateo; Porres-Munoz, Mateo; Mukherjee, Debabrata

    2013-12-01

    Over the last decade advanced therapies for the management of pulmonary arterial hypertension have been introduced. These agents have also been effective in reducing pulmonary vascular resistance in patients with Eisenmenger syndrome. Specific guidelines focusing on modern therapies for Eisenmenger syndrome however do not exist to date. More recently, clinical trials in patients with Eisenmenger syndrome demonstrated a significant clinical improvement with favorable safety and tolerability profile. This review aims to summarize newly reported pharmacological agents used in patients with Eisenmenger syndrome. PMID:24655213

  8. Radiolabeled Monoclonal Antibody Therapy, Fludarabine Phosphate, and Low-Dose Total-Body Irradiation Followed by Donor Stem Cell Transplant and Immunosuppression Therapy in Treating Older Patients With Advanced Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndromes

    ClinicalTrials.gov

    2015-11-16

    Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Myeloid Leukemia

  9. [REITER'S SYNDROME FOLLOWING INTRAVASICAL BCG THERAPY FOR UROTHELIAL CARCINOMA. SUMMARY OF CASE REPORTS OVER THE PAST 13 YEARS IN JAPAN, INCLUDING OUR CURRENT 6 CASES].

    PubMed

    Koike, Mayumi; Natsuyama, Takao; Matsuzaki, Kanako; Yokota, Eisuke; Shiozawa, Shinji; Chiba, Kazuto; Akakura, Koichiro

    2015-10-01

    Reiter's syndrome is one of the rare complications following intravesical bovis Bacillus Calmette-Guerin (BCG) treatment. In this study we have reviewed and discussed 101 cases including our own 6 cases over the past 13 years in Japan (2000-2013). The patients comprised 70 males and 25 females (6 cases were unknown), mean age of 63.1 (range 42 - 91). Arthritis occured 4-5 days after conjunctivitis. Thirty five (55%) of 68 patients needed corticosteroid treatment to control their arthritis. HLA-B27 is known as a risk factor of Reiter's syndrome, however, positive rate was only 2.4% (n = 41). PMID:26717781

  10. Management of Neuroacanthocytosis Syndromes

    PubMed Central

    Walker, Ruth H.

    2015-01-01

    Background The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers. Methods A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington’s disease (HD) and Parkinson’s disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders. PMID:26504667

  11. [Neuroleptic induced deficit syndrome].

    PubMed

    Szafra?ski, T

    1995-01-01

    Increasing interest in subjective aspects of therapy and rehabilitation focused the attention of psychiatrists, psychologists and psychopharmacologists on the mental side effects of neuroleptics. For the drug-related impairment of affective, cognitive and social function the name of neuroleptic-induced deficit syndrome (NIDS) is proposed. Patients with NIDS appear to be indifferent to the environmental stimuli, retarded and apathetic. They complain of feeling drugged and drowsy, weird, they suffer from lack of motivation, feel like "zombies". The paper presents description of NIDS and its differentiation from negative and depressive symptoms in schizophrenia and subjective perceiving of extrapyramidal syndromes. PMID:7652089

  12. Understanding Thoracic Outlet Syndrome

    PubMed Central

    Freischlag, Julie

    2014-01-01

    The diagnosis of thoracic outlet syndrome was once debated in the world of vascular surgery. Today, it is more understood and surprisingly less infrequent than once thought. Thoracic outlet syndrome (TOS) is composed of three types: neurogenic, venous, and arterial. Each type is in distinction to the others when considering patient presentation and diagnosis. Remarkable advances have been made in surgical approach, physical therapy, and rehabilitation of these patients. Dedicated centers of excellence with multidisciplinary teams have been developed and continue to lead the way in future research. PMID:25140278

  13. [Sturge-Weber syndrome].

    PubMed

    Sugano, Hidenori; Nakanishi, Hajime; Nakajima, Madoka; Higo, Takuma; Iimura, Yasushi; Shimoji, Kazuaki; Arai, Hajime

    2010-07-01

    Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by intracranial leptomeningeal angioma, facial port-wine nevi, and glaucoma. Diagnosis is relatively easy because of the facial angioma and MRI findings, but evaluating severity is difficult. Predictors of SWS's prognosis are epilepsy and brain dysfunction under the leptomeningeal angioma. Therefore, active research has been intensely conducted with electrophysiological, neuroimaging, and neuropsychological methods. Final goals of this research are to define the therapeutic strategy. In this review, we focus on recent advances in neuroimaging and EEG analysis to discover the epileptogenesis, the most adequate therapy, and prospective topics of investigation in SWS. PMID:20628187

  14. Syndrome in question*

    PubMed Central

    Rebellato, Priscila Regina Orso; Rezende, Camila Makino; Battaglin, Eveline Roesler; de Lima, Brunno Zeni; Fillus Neto, Jose

    2015-01-01

    Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease.

  15. The Need for Self-Report Data in the Assessment of Stuttering Therapy Efficacy: Repetitions and Prolongations of Speech. The Stuttering Syndrome

    ERIC Educational Resources Information Center

    Guntupalli, Vijaya K.; Kalinowski, Joseph; Saltuklaroglu, Tim

    2006-01-01

    Background: Bloodstein reviewed hundreds of studies that investigated the efficacy of therapeutic protocols for ameliorating the stuttering syndrome. Surprisingly, almost all were effective in significantly reducing overtly perceptible behaviours such as repetitions and prolongations of speech sounds. These results seem highly improbable…

  16. Translational Mini-Review Series on Complement Factor H: Therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis

    PubMed Central

    Noris, M; Remuzzi, G

    2008-01-01

    Genetic and acquired abnormalities in complement factor H (CFH) have been associated with two different human renal diseases: haemolytic uraemic syndrome and membrano proliferative glomerulonephritis. The new genetic and pathogenetic findings in these diseases and their clinical implications for the management and cure of patients are reviewed in this paper. PMID:18070148

  17. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

    PubMed Central

    Singh, K. K.; Kumar, R.; Prakash, J.; Krishna, A.

    2015-01-01

    Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  18. On-Statin Resistin, Leptin, and Risk of Recurrent Coronary Events After Hospitalization for an Acute Coronary Syndrome (from the Pravastatin or Atorvastatin Evaluation and Infection Therapy-Thrombolysis in Myocardial Infarction 22 Study).

    PubMed

    Khera, Amit V; Qamar, Arman; Murphy, Sabina A; Cannon, Christopher P; Sabatine, Marc S; Rader, Daniel J

    2015-09-01

    Resistin is an adipokine secreted by macrophages and inflammatory cells linked to insulin resistance and inflammation. Leptin is an adipokine regulator of appetite and obesity. Although circulating levels of both have been associated with atherosclerosis, few data have reported their relation to coronary events in the context of statin therapy. This study measured on-statin levels of both resistin and leptin through enzyme-linked immunosorbent assay in a nested case-control cohort (n = 176 cases with coronary death, myocardial infarction, or unstable angina pectoris observed in follow-up matched 1:1 to 176 controls) derived from the Pravastatin or Atorvastatin Evaluation and Infection Therapy-Thrombolysis in Myocardial Infarction 22 study, a randomized controlled trial of atorvastatin 80 mg/day versus pravastatin 40 mg/day in patients with a recent acute coronary syndrome. Resistin demonstrated a moderate association with high-sensitivity C-reactive protein (hsCRP; Spearman rho = 0.25, p <0.0001). On-statin resistin levels were linked to recurrent coronary events in conditional logistic regression analysis adjusted for additional risk factors including hsCRP and history of diabetes (tertile 3 vs 1 adjusted odds ratio 2.08; 95% confidence interval [CI] 1.04 to 4.19). An additive risk was noted when patients were stratified by resistin and glycated hemoglobin levels. In contrast, leptin levels were associated with obesity, diabetes, triglycerides, and hsCRP (p <0.001 for each) but demonstrated no association with recurrent coronary events (tertile 3 vs 1 adjusted odds ratio 0.72; 95% CI 0.28 to 1.83). In conclusion, on-statin resistin, but not leptin, is an independent marker of residual risk for recurrent coronary events in patients after hospitalization for an acute coronary syndrome. PMID:26119654

  19. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment. PMID:24552422

  20. Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation

    ClinicalTrials.gov

    2013-07-03

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); B-cell Adult Acute Lymphoblastic Leukemia; B-cell Childhood Acute Lymphoblastic Leukemia; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; Essential Thrombocythemia; Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; T-cell Adult Acute Lymphoblastic Leukemia; T-cell Childhood Acute Lymphoblastic Leukemia

  1. Lemierre's syndrome (necrobacillosis)

    PubMed Central

    Golpe, R.; Marin, B.; Alonso, M.

    1999-01-01

    Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.???Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

  2. Cardiac Syndrome X: Update.

    PubMed

    Agrawal, Shilpa; Mehta, Puja K; Bairey Merz, C Noel

    2016-01-01

    Cardiac Syndrome X (CSX), characterized by angina-like chest discomfort, ST segment depression during exercise, and normal epicardial coronary arteries at angiography, is highly prevalent in women. CSX is not benign, and linked to adverse cardiovascular outcomes and a poor quality of life. Coronary microvascular and endothelial dysfunction and abnormal cardiac nociception have been implicated in the pathogenesis of CSX. Treatment includes life-style modification, anti-anginal, anti-atherosclerotic, and anti-ischemic medications. Non-pharmacological options include cognitive behavioral therapy, enhanced external counterpulsation, neurostimulation, and stellate ganglionectomy. Studies have shown the efficacy of individual treatments but guidelines outlining the best course of therapy are lacking. PMID:26567981

  3. Carpal Tunnel Syndrome

    PubMed Central

    Hodgkins, Michael L.; Grady, Deborah

    1988-01-01

    Carpal tunnel syndrome is a common and potentially disabling condition. When suspected, the diagnosis can be readily made on clinical evidence without the the need for extensive ancillary tests. Primary physicians should be able to manage most patients with medical therapy. Patients for whom medical treatment fails or who present with weakness or thenar atrophy should be referred to a competent hand surgeon. Most patients can expect to have a good outcome if the diagnosis is made early, appropriate therapy is instituted, and a periodic reassessment is done to guide further clinical decisions. Images PMID:3348036

  4. [Multimodal pain therapy for treatment of chronic pain syndrome. Consensus paper of the ad hoc commission on multimodal interdisciplinary pain management of the German Pain Society on treatment contents].

    PubMed

    Arnold, B; Brinkschmidt, T; Casser, H-R; Diezemann, A; Gralow, I; Irnich, D; Kaiser, U; Klasen, B; Klimczyk, K; Lutz, J; Nagel, B; Pfingsten, M; Sabatowski, R; Schesser, R; Schiltenwolf, M; Seeger, D; Söllner, W

    2014-10-01

    Multimodal pain management is a comprehensive treatment of complex chronic pain syndromes. In addition to medical therapy various other specialized therapeutic interventions based on the biopsychosocial model of pain origin and chronic pain development, are added. During the last few years treatment centers for chronic pain have been established throughout Germany. Multimodal pain management has been included in the official catalogue of the recognized medical procedures for day clinic units as well as for inpatient pain management. In daily practice there is, however, still a lack of clarity and of consistency about the components that multimodal pain management should contain. This is the reason for the ad hoc commission on multimodal interdisciplinary pain management of the German Pain Society to propose the following position paper that has been worked out in a multilevel and interdisciplinary consensus process. The paper describes the mandatory treatment measures in the four core disciplines of multimodal pain management, pain medicine, psychotherapy, exercise therapy including physiotherapy and assistant medical professions including nurses. PMID:25216605

  5. Dancing eye syndrome and hyperphosphatasemia.

    PubMed

    Hasaerts, D E; Gorus, F K; De Meirleir, L J

    1998-05-01

    An 11-month-old boy with a relapsing dancing eye syndrome associated with elevation of serum alkaline phosphatase, lactate dehydrogenase, and aminotransferase activities is reported. During two clinical episodes the serum alkaline phosphatase activity increased up to four times the upper reference limit, remained elevated for a few weeks and normalized gradually in parallel with clinical improvement under steroid therapy. We found no evidence of liver or bone pathology nor of a neural crest tumor. The association between dancing eye syndrome and hyperphosphatasemia has not yet been described. The beneficial effect of the steroid therapy strengthens the hypothesis of an autoimmune origin. PMID:9650686

  6. Macrophage Activation Syndrome.

    PubMed

    Ravelli, Angelo; Davì, Sergio; Minoia, Francesca; Martini, Alberto; Cron, Randy Q

    2015-10-01

    Macrophage activation syndrome (MAS) is a potentially life-threatening complication of rheumatic disorders that occurs most commonly in systemic juvenile idiopathic arthritis. In recent years, there have been several advances in the understanding of the pathophysiology of MAS. Furthermore, new classification criteria have been developed. Although the place of cytokine blockers in the management of MAS is still unclear, interleukin-1 inhibitors represent a promising adjunctive therapy, particularly in refractory cases. PMID:26461152

  7. Sheldon-Hall syndrome

    PubMed Central

    Toydemir, Reha M; Bamshad, Michael J

    2009-01-01

    Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18–24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal. PMID:19309503

  8. Overall Management of Patients with Dravet Syndrome

    ERIC Educational Resources Information Center

    Ceulemans, Berten

    2011-01-01

    Dravet syndrome, or as it was called in the past "severe myoclonic epilepsy in infancy", is a drug-resistant epilepsy first described by Charlotte Dravet in 1978. Besides the well-known and well-described therapy resistance, Dravet syndrome dramatically impacts the development and behaviour of the affected children. As it is still not a curable…

  9. Craniofacial Syndrome Descriptions

    MedlinePLUS

    ... brought about by birth defect, disease or trauma. Apert syndrome Carpenter syndrome Carpenter Syndrome belongs to a group ... FAQs CCAkids Blog CCA Web Store Cher Syndromes • Apert syndrome • Carpenter syndrome • Cleft lip and/or palate • Craniosynostosis • ...

  10. Usher Syndrome

    MedlinePLUS

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  11. Hunter syndrome

    MedlinePLUS

    ... form: Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets worse ... to complete daily living activities Joint stiffness that ...

  12. Klinefelter Syndrome

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

  13. Rett syndrome

    MedlinePLUS

    Rett syndrome occurs almost always in girls. It may be diagnosed as autism or cerebral palsy. Most Rett syndrome cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females ...

  14. Metabolic Syndrome

    MedlinePLUS

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  15. Marfan Syndrome

    MedlinePLUS

    ... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

  16. Cushing syndrome

    MedlinePLUS

    Cushing syndrome is a disorder that occurs when your body has a high level of the hormone cortisol. ... The most common cause of Cushing syndrome is taking too much ... of this type of medicine. Glucocorticoids mimic the action ...

  17. Cushing's Syndrome

    MedlinePLUS

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  18. [Kidney toxicity's "HAART" therapy].

    PubMed

    Marino, Alfonsina; Ardu, Francesco; Dentone, Chiara; Secondo, Giovanni; Ferrea, G

    2015-01-01

    Human immunodeficiency virus (HIV) and antiretroviral therapy can damage the kidney. Highly active antiretroviral therapy (HAART) generally improves the renal function as it reduces the viral replication, although the renal function may be reduced by certain antiretroviral drugs. HAART causes acute tubular necrosis, acute interstitial nephritis, calculi, Fanconi Syndrome, crystal nephropathy, elevated lipid levels as well as calcium and phosphorus alteration. The physician must estimate renal function before and during antiretroviral therapy, especially when HIV-infected patients have some risk factors for renal damage such as high-blood pressure or hepatitis B or C infections. PMID:26480259

  19. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  20. Down syndrome

    MedlinePLUS

    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

  1. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  2. Multi-Family Psychoeducational Support Group Therapy for Families with a Member Afflicted with Irreversible Brain Syndrome (Alzheimer's Disease): Report of a Pilot Study.

    ERIC Educational Resources Information Center

    Paley, Evelyn S.; And Others

    Alzheimers Disease (AD), an incurable disability which afflicts older adults, can have devastating emotional consequences for the victim and the family. In an attempt to determine the effectiveness of multifamily psychoeducational support, group therapy (MFPSGT), 22 persons (13 families) from the Alzheimer's Disease and Related Disorders…

  3. Palliation of Extensive Metastatic Bone Disease With 223Ra-Dichloride ?-Particle Therapy in a Patient With Malignant Hereditary Paraganglioma-Pheochromocytoma Syndrome With SDHB Mutation.

    PubMed

    Makis, William; McCann, Karey; McEwan, Alexander J B; Sawyer, Michael B

    2016-02-01

    A 26-year-old woman with a 5-year history of metastatic paraganglioma due to hereditary paraganglioma-pheochromocytoma syndrome with SDHB mutation, who had failed multiple treatment regimens and had transfusion dependent pancytopenia, presented with progressive liver and bone metastases. She was unable to sleep due to painful skull metastases and had severe weakness in her extremities that limited her mobility and daily activities. She was treated with 2 doses of Ra-dichloride (Xofigo, Ra) and had a dramatic improvement in pain control, mobility, and overall quality of life for 8 weeks, before passing away from pulmonary hemorrhage. PMID:26359562

  4. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  5. Herpes Viral Origin of the Parsonage-Turner Syndrome: Highlighting of Serological Immune Anti-Herpes Deficiency Cured by Anti-Herpes Therapy

    PubMed Central

    Goaster, Jacqueline Le; Bourée, Patrice; Ifergan, Charles; Tangy, Frederic; Olivier, René; Haenni, Anne-Lise

    2015-01-01

    In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of the global serological anti-Herpes immunity to analyze his antibody (Ab) levels confirmed herpes immune genetic deficiency. An appropriate herpes chemotherapy treatment was proposed. Immediately, a spectacular recovery of the patient was observed, and after a few weeks, the respiratory function tests showed normal values. The hypothesis of the inductive role of viruses of the herpes family in the Parsonage-Turner syndrome was thus substantiated. The patient's immune deficiency covers the HSV2, HHV3, HHV4, HHV5 and HHV6 Ab levels. This led to the control of herpes in the family lineage: indeed, his daughter presented alterations of her serological herpes Ab levels. PMID:26078744

  6. Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome.

    PubMed

    Henry, Eve; Villalobos, Victor; Million, Lynn; Jensen, Kristin C; West, Robert; Ganjoo, Kristen; Lebensohn, Alexandra; Ford, James M; Telli, Melinda L

    2012-08-01

    Li-Fraumeni syndrome (LFS) is one of the most penetrant forms of familial cancer susceptibility syndromes, characterized by early age at tumor onset and a wide spectrum of malignant tumors. Identifying LFS in patients with cancer is clinically imperative because they have an increased sensitivity to ionizing radiation and are more likely to develop radiation-induced secondary malignancies. This case report describes a young woman whose initial presentation of LFS was early-onset breast cancer and whose treatment of this primary malignancy with breast conservation likely resulted in a secondary malignancy arising in her radiation field. As seen in this case, most breast cancers in patients with LFS exhibit a triple-positive phenotype (estrogen receptor-positive/progesterone receptor-positive/HER2-positive). Although this patient met classic LFS criteria based on age and personal and family history of cancer, the NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian Cancer endorse genetic screening for TP53 mutations in a subset of patients with early-onset breast cancer, even in the absence of a suggestive family history, because of the potential for de novo TP53 mutations. PMID:22878818

  7. Amygdaloid nucleus syndrome and dehumanization syndrome.

    PubMed

    Miller de Paiva, L

    1979-01-01

    Through statistical tests 3 groups of impulsive-aggressive patients were studied: group 1, 100 individuals with temporal dysrhythmia; group 2, 18 individuals with temporal dysrhythmia submitted either to group analytical therapy or to psychoanalysis; group 3, 25 impulsive-aggressive individuals. Moreover the author differentiates between the amygdaloid nucleus and dehumanization syndromes, through psychoanalytical or psychiatric studies, and stresses the importance of the molding periods in relation to social factors (frustration-aggression-injustice). Amygdalotomy of the hippocampus was suggested in special cases. PMID:482533

  8. [Autoinflammatory syndrome].

    PubMed

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes. PMID:19280943

  9. Non-thyroidal illness syndrome is a manifestation of hypothalamic-pituitary dysfunction, and in view of current evidence, should be treated with appropriate replacement therapies.

    PubMed

    De Groot, Leslie J

    2006-01-01

    This article documents the role of hypothalamic hypothyroidism and decreased T4-->T3 conversion as the cause of low T4 and T3 in non-thyroidal illness syndrome (NTIS). This article also presents the arguments for administration of replacement triiodothyronine (T3) and thyroxine (T4) hormone in patients who have NTIS. It is impossible to be certain at this time that it is beneficial to replace hormone, or whether this could be harmful. Only a prospective study will be adequate to prove this point, and probably this would need to involve hundreds of patients. If effective, thyroid hormone replacement will be one of many beneficial treatments given the patient, rather than a single magic bullet, which would reverse all the metabolic changes going wrong in these severely ill patients. PMID:16399020

  10. EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat

    PubMed Central

    Zallocchi, Marisa; Binley, Katie; Lad, Yatish; Ellis, Scott; Widdowson, Peter; Iqball, Sharifah; Scripps, Vicky; Kelleher, Michelle; Loader, Julie; Miskin, James; Peng, You-Wei; Wang, Wei-Min; Cheung, Linda; Delimont, Duane; Mitrophanous, Kyriacos A.; Cosgrove, Dominic

    2014-01-01

    Usher syndrome type 1B is a combined deaf-blindness condition caused by mutations in the MYO7A gene. Loss of functional myosin VIIa in the retinal pigment epithelia (RPE) and/or photoreceptors leads to blindness. We evaluated the impact of subretinally delivered UshStat, a recombinant EIAV-based lentiviral vector expressing human MYO7A, on photoreceptor function in the shaker1 mouse model for Usher type 1B that lacks a functional Myo7A gene. Subretinal injections of EIAV-CMV-GFP, EIAV-RK-GFP (photoreceptor specific), EIAV-CMV-MYO7A (UshStat) or EIAV-CMV-Null (control) vectors were performed in shaker1 mice. GFP and myosin VIIa expression was evaluated histologically. Photoreceptor function in EIAV-CMV-MYO7A treated eyes was determined by evaluating ?-transducin translocation in photoreceptors in response to low light intensity levels, and protection from light induced photoreceptor degeneration was measured. The safety and tolerability of subretinally delivered UshStat was evaluated in macaques. Expression of GFP and myosin VIIa was confirmed in the RPE and photoreceptors in shaker1 mice following subretinal delivery of the EIAV-CMV-GFP/MYO7A vectors. The EIAV-CMV-MYO7A vector protected the shaker1 mouse photoreceptors from acute and chronic intensity light damage, indicated by a significant reduction in photoreceptor cell loss, and restoration of the ?-transducin translocation threshold in the photoreceptors. Safety studies in the macaques demonstrated that subretinal delivery of UshStat is safe and well-tolerated. Subretinal delivery of EIAV-CMV-MYO7A (UshStat) rescues photoreceptor phenotypes in the shaker1 mouse. In addition, subretinally delivered UshStat is safe and well-tolerated in macaque safety studies These data support the clinical development of UshStat to treat Usher type 1B syndrome. PMID:24705452

  11. Tumor lysis syndrome: A clinical review

    PubMed Central

    Mirrakhimov, Aibek E; Voore, Prakruthi; Khan, Maliha; Ali, Alaa M

    2015-01-01

    Tumor lysis syndrome is an oncometabolic emergency resulting from rapid cell death. Tumor lysis syndrome can occur as a consequence of tumor targeted therapy or spontaneously. Clinicians should stratify every hospitalized cancer patient and especially those receiving chemotherapy for the risk of tumor lysis syndrome. Several aspects of prevention include adequate hydration, use of uric acid lowering therapies, use of phosphate binders and minimization of potassium intake. Patients at high risk for the development of tumor lysis syndrome should be monitored in the intensive care unit. Established tumor lysis syndrome should be treated in the intensive care unit by aggressive hydration, possible use of loop diuretics, possible use of phosphate binders, use of uric acid lowering agents and dialysis in refractory cases. PMID:25938028

  12. Sudden arrhythmia death syndrome: importance of the long QT syndrome.

    PubMed

    Meyer, John S; Mehdirad, Ali; Salem, Bakr I; Kulikowska, Agnieszka; Kulikowski, Piotr

    2003-08-01

    In approximately 5 percent of sudden cardiac deaths, no demonstrable anatomic abnormality is found. Some cases are caused by sudden arrhythmia death syndrome. A prolonged QT interval is a common thread among the various entities associated with sudden arrhythmia death syndrome. A number of drugs are known to cause QT prolongation (e.g., terfenadine), as are hypokalemia, hypomagnesemia, myocarditis, and endocrine and nutritional disorders. Recently, attention has focused on a group of inherited gene mutations in cardiac ion channels that cause long QT syndrome and carry an increased risk for sudden death. Some of the highest rates of inherited long QT syndrome occur in Southeast Asian and Pacific Rim countries. The median age of persons who die of long QT syndrome is 32 years; men are predominately affected. In addition to a prolonged QT interval, which occurs in some but not all persons with long QT syndrome, another characteristic electrocardiographic abnormality is the so-called Brugada sign (an upward deflection of the terminal portion of the QRS complex). Most cardiac events are precipitated by vigorous exercise or emotional stress, but they also can occur during sleep. Torsades de pointes and ventricular fibrillation are the usual fatal arrhythmias. Long QT syndrome should be suspected in patients with recurrent syncope during exertion and those with family histories of sudden, unexpected death. Unfortunately, not all persons with long QT syndrome have premonitory symptoms or identifiable electrocardiographic abnormalities, and they may first present with sudden death. Beta blockers, potassium supplements, and implantable defibrillators have been used for treatment of long QT syndrome. Identifying the specific gene mutation in a given patient with long QT syndrome can help guide prophylactic therapy. PMID:12924831

  13. [Autoinflammatory syndromes].

    PubMed

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases. PMID:19434382

  14. Assessing Cognitive behavioural Therapy in Irritable Bowel (ACTIB): protocol for a randomised controlled trial of clinical-effectiveness and cost-effectiveness of therapist delivered cognitive behavioural therapy and web-based self-management in irritable bowel syndrome in adults

    PubMed Central

    Everitt, Hazel; Landau, Sabine; Little, Paul; Bishop, Felicity L; McCrone, Paul; O'Reilly, Gilly; Coleman, Nicholas; Logan, Robert; Chalder, Trudie; Moss-Morris, Rona

    2015-01-01

    Introduction Irritable bowel syndrome (IBS) affects 10–22% of the UK population, with England's annual National Health Service (NHS) costs amounting to more than £200 million. Abdominal pain, bloating and altered bowel habit affect quality of life, social functioning and time off work. Current treatment relies on a positive diagnosis, reassurance, lifestyle advice and drug therapies, but many people suffer ongoing symptoms. Cognitive behaviour therapy (CBT) and self-management can be helpful, but availability is limited. Methods and analysis To determine the clinical- and cost-effectiveness of therapist delivered cognitive behavioural therapy (TCBT) and web-based CBT self-management (WBCBT) in IBS, 495 participants with refractory IBS will be randomised to TCBT plus treatment as usual (TAU); WBCBT plus TAU; or TAU alone. The two CBT programmes have similar content. However, TCBT consists of six, 60?min telephone CBT sessions with a therapist over 9?weeks, at home, and two ‘booster’ 1?hour follow-up phone calls at 4 and 8?months (8?h therapist contact time). WBCBT consists of access to a previously developed and piloted WBCBT management programme (Regul8) and three 30?min therapist telephone sessions over 9?weeks, at home, and two ‘booster’ 30?min follow-up phone calls at 4 and 8?months (2½?h therapist contact time). Clinical effectiveness will be assessed by examining the difference between arms in the IBS Symptom Severity Score (IBS SSS) and Work and Social Adjustment Scale (WASAS) at 12?months from randomisation. Cost-effectiveness will combine measures of resource use with the IBS SSS at 12?months and quality-adjusted life years. Ethics and dissemination This trial has full ethical approval. It will be disseminated via peer reviewed publications and conference presentations. The results will enable clinicians, patients and health service planners to make informed decisions regarding the management of IBS with CBT. Trial registration number ISRCTN44427879. PMID:26179651

  15. Why Metabolic Syndrome Matters

    MedlinePLUS

    ... High Blood Pressure Tools & Resources Stroke More Why Metabolic Syndrome Matters Updated:Jul 24,2014 Metabolic syndrome may ... Diabetes High Blood Pressure My Life Check Heart360® Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  16. Neurogenetics and Nutrigenomics of Neuro-Nutrient Therapy for Reward Deficiency Syndrome (RDS): Clinical Ramifications as a Function of Molecular Neurobiological Mechanisms

    PubMed Central

    Blum, Kenneth; Oscar-Berman, Marlene; Stuller, Elizabeth; Miller, David; Giordano, John; Morse, Siobhan; McCormick, Lee; Downs, William B; Waite, Roger L; Barh, Debmalya; Neal, Dennis; Braverman, Eric R; Lohmann, Raquel; Borsten, Joan; Hauser, Mary; Han, David; Liu, Yijun; Helman, Manya; Simpatico, Thomas

    2013-01-01

    In accord with the new definition of addiction published by American Society of Addiction Medicine (ASAM) it is well-known that individuals who present to a treatment center involved in chemical dependency or other documented reward dependence behaviors have impaired brain reward circuitry. They have hypodopaminergic function due to genetic and/or environmental negative pressures upon the reward neuro-circuitry. This impairment leads to aberrant craving behavior and other behaviors such as Substance Use Disorder (SUD). Neurogenetic research in both animal and humans revealed that there is a well-defined cascade in the reward site of the brain that leads to normal dopamine release. This cascade has been termed the “Brain Reward Cascade” (BRC). Any impairment due to either genetics or environmental influences on this cascade will result in a reduced amount of dopamine release in the brain reward site. Manipulation of the BRC has been successfully achieved with neuro-nutrient therapy utilizing nutrigenomic principles. After over four decades of development, neuro-nutrient therapy has provided important clinical benefits when appropriately utilized. This is a review, with some illustrative case histories from a number of addiction professionals, of certain molecular neurobiological mechanisms which if ignored may lead to clinical complications. PMID:23926462

  17. State of the Art Review: Emerging Therapies: The Use of Insulin Sensitizers in the Treatment of Adolescents with Polycystic Ovary Syndrome (PCOS)

    PubMed Central

    2011-01-01

    PCOS, a heterogeneous disorder characterized by cystic ovarian morphology, androgen excess, and/or irregular periods, emerges during or shortly after puberty. Peri- and post-pubertal obesity, insulin resistance and consequent hyperinsulinemia are highly prevalent co-morbidities of PCOS and promote an ongoing state of excess androgen. Given the relationship of insulin to androgen excess, reduction of insulin secretion and/or improvement of its action at target tissues offer the possibility of improving the physical stigmata of androgen excess by correction of the reproductive dysfunction and preventing metabolic derangements from becoming entrenched. While lifestyle changes that concentrate on behavioral, dietary and exercise regimens should be considered as first line therapy for weight reduction and normalization of insulin levels in adolescents with PCOS, several therapeutic options are available and in wide use, including oral contraceptives, metformin, thiazolidenediones and spironolactone. Overwhelmingly, the data on the safety and efficacy of these medications derive from the adult PCOS literature. Despite the paucity of randomized control trials to adequately evaluate these modalities in adolescents, their use, particularly that of metformin, has gained popularity in the pediatric endocrine community. In this article, we present an overview of the use of insulin sensitizing medications in PCOS and review both the adult and (where available) adolescent literature, focusing specifically on the use of metformin in both mono- and combination therapy. PMID:21899727

  18. Genetic syndromes associated with overgrowth in childhood

    PubMed Central

    2013-01-01

    Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

  19. Medication use pattern and predictors of optimal therapy at discharge in 8176 patients with acute coronary syndrome from 6 Middle Eastern countries: data from the gulf registry of acute coronary events.

    PubMed

    Al-Zakwani, Ibrahim; Zubaid, Mohammad; Panduranga, Prashanth; Rashed, Wafa; Sulaiman, Kadhim; Almahmeed, Wael; Al-Motarreb, Ahmed; Al Suwaidi, Jassim; Amin, Haitham

    2011-08-01

    We evaluated the use of quadruple evidence-based medication (EBM) combination consisting of antiplatelet therapy, angiotensin-converting enzyme inhibitor or angiotensin II receptor blocker, ?-blocker, and lipid-lowering agent concurrently at discharge among patients (n = 8154) with acute coronary syndrome (ACS) in 6 Middle Eastern countries. In all, 49% of the patients received the quadruple EBM combination concurrently at discharge. An adjusted model demonstrated that old age, diabetes mellitus, hyperlipidemia, hypertension, ST-segment elevation myocardial infarction, cardiac catheterization, as well as cardiologists as care providers and hospitals with cardiac catheterization facilities were all positively correlated with the use of the quadruple EBM combination. However, patients with cardiogenic shock, renal impairment, higher risk score, congestive heart failure, recurrent ischemia, and those admitted to academic hospitals were negatively correlated with the use of the quadruple EBM combination. Guideline adherence to the concurrent use of quadruple EBM combination in patients with ACS at discharge was suboptimal with wide disparity among the 6 countries. PMID:21421625

  20. Microscopic nephrocalcinosis and hypercalciuria in nephrotic syndrome.

    PubMed

    Mocan, H; Yildiran, A; Camlibel, T; Kuzey, G M

    2000-11-01

    Focal calcification is an occasional tubular abnormality seen in minimal-change nephrotic syndrome. Nephrocalcinosis was also reported in premature infants as a consequence of hypercalciuria resulting from long-term furosemide therapy. We describe 4 nephrotic children (3 minimal change, 1 diffuse proliferative glomerulonephritis) with transient hypercalciuria and intraluminal calcifications in renal histopathological specimens without radiologic evidence of renal calcification. These children were resistant to corticosteroid therapy and were receiving furosemide therapy along with albumin for management of oedema. Two of the children also had urinary infection. We were concerned that children with nephrotic syndrome are at risk for nephrocalcinosis, and urinary calcium and pH should be monitored carefully during prolonged furosemide use, especially in children with nephrotic syndrome with reduced initial responsiveness to corticosteroid therapy. HUM PATHOL 31:1363:1367. PMID:11112210

  1. Utilisation de l'essai comete et du biomarqueur gamma-H2AX pour detecter les dommages induits a l'ADN cellulaire par le 5-bromodeoxyuridine post-irradiation

    NASA Astrophysics Data System (ADS)

    La Madeleine, Carole

    Ce memoire est presente a la Faculte de medecine et des sciences de la sante de l'Universite de Sherbrooke en vue de l'obtention du grade de maitre es sciences (M.Sc.) en radiobiologie (2009). Un jury a revise les informations contenues dans ce memoire. Il etait compose de professeurs de la Faculte de medecine et des sciences de la sante soit : Darel Hunting PhD, directeur de recherche (departement de medecine nucleaire et radiobiologie), Leon Sanche PhD, directeur de recherche (departement de medecine nucleaire et radiobiologie), Richard Wagner PhD, membre du programme (departement de medecine nucleaire et radiobiologie) et Guylain Boissonneault PhD, membre exterieur au programme (departement de biochimie). Le 5-bromodeoxyuridine (BrdU), un analogue halogene de la thymidine reconnu depuis les annees 60 comme etant un excellent radiosensibilisateur. L'hypothese la plus repandue au sujet de l'effet radio sensibilisant du BrdU est qu'il augmente le nombre de cassures simple et double brin lorsqu'il est incorpore dans l'ADN de la cellule et expose aux radiations ionisantes. Toutefois, de nouvelles recherches semblent remettre en question les observations precedentes. Ces dernieres etudes ont confirme que le BrdU est un bon radiosensibilisateur, car il augmente les dommages radio-induits dans l'ADN. Mais, c'est en etant incorpore dans une region simple brin que le BrdU radiosensibilise l'ADN. Ces recherches ont egalement revele pour la premiere fois un nouveau type de dommages produits lors de l'irradiation de l'ADN contenant du BrdU : les dimeres interbrins. Le but de ces travaux de recherche est de determiner si la presence de bromodeoxyuridine dans l'ADN augmente l'induction de bris simple et / ou double brin chez les cellules irradiees en utilisant de nouvelles techniques plus sensibles et specifiques que celles utilisees auparavant. Pour ce faire, les essais cometes et la detection des foci H2AX phosphorylee pourraient permettre d'etablir les effets engendres par le BrdU au niveau cellulaire. Notre hypothese (basee sur des resultats preliminaires effectues dans notre laboratoire) est que l'irradiation de l'ADN cellulaire en presence de BrdU augmentera le nombre de bris simple brin sans toutefois augmenter le nombre de bris double brin. Les resultats presentes dans ce memoire semblent corroborer cette hypothese. Les nouvelles methodes d'analyse, soient l'essai comete et la detection des foci gamma-H2AX remettent en question ce qui a ete dit sur le BrdU au sujet de l'induction des cassures double brin depuis plusieurs annees. L'ensemble de ces nouveaux resultats effectue a l'aide de cellules ayant incorporees du BrdU sont en correlation avec de precedents resultats obtenus dans notre laboratoire sur des oligonucleotides bromes. Ils reaffirment que l'irradiation combinee au BrdU augmente l'induction de bris simple brin mais pas de bris double brin. L'investigation approfondie des mecanismes d'action non elucides du BrdU au niveau cellulaire et son utilisation a des moments strategiques pendant le traitement de radiotherapie pourraient accroitre son efficacite a des fins d'utilisation clinique. Mots cles : 5-bromodeoxyuridine, dimeres interbrins, dommage a l'ADN, essai comete, H2AX, radiosensibilisateur, radiotherapie

  2. Skin manifestations in autoinflammatory syndromes.

    PubMed

    Braun-Falco, Markus; Ruzicka, Thomas

    2011-03-01

    Autoinflammatory diseases encompass a group of inflammatory diseases that are non-infectious, non-allergic, non-autoimmune and non-immunodeficient. The term was initially coined for a small group of familial periodic fever syndromes of which familial Mediterranean fever (FMF) is the most common and best known. Genetic and molecular analyses demonstrated for the majority of these diseases an impairment of inflammasomes to cause an increased activity of an interleukin-1-dependent inflammatory response. Over the last years an increasing number of either rare hereditary syndromes or acquired common diseases could be summarized under the designation of autoinflammatory disease, thus creating an emerging new rubric of inflammatory diseases. Many of them display cutaneous manifestations as both concomitant or more rarely main symptoms. To name some of them like erysipelas-like erythema in FMF; urticaria-like rashes in tumor necrosis factor receptor 1- or cryopyrin-associated periodic syndromes (TRAPS, CAPS), hyperimmunoglobulin D syndrome (HIDS) or Schnitzler syndrome; pyoderma gangrenosum and acne in PAPA syndrome; or behçetoid aphthous ulcerations in HIDS and PFAPA syndrome. Based on the new insights into pathogenesis one increasingly realizes the good response of these diseases to IL-1 antagonist therapies. PMID:21176105

  3. Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome.

    PubMed

    Tang, Jean Y; Chiou, Albert S; Mackay-Wiggan, Julian M; Aszterbaum, Michelle; Chanana, Anita M; Lee, Wayne; Lindgren, Joselyn A; Raphael, Maria Acosta; Thompson, Bobbye J; Bickers, David R; Epstein, Ervin H

    2014-03-01

    Sporadic human basal cell carcinomas (BCC) are generally well managed with current surgical modalities. However, in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low-morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-? and RAR-? receptors. We previously demonstrated tazarotene's robust anti-BCC efficacy in Ptch1(+/-) mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in patients with BCNS evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N = 34 subjects), along with an open-label trial evaluating tazarotene's efficacy for chemotherapy of BCC lesions (N = 36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS. PMID:24441673

  4. Tazarotene: Randomized, Double-Blind, Vehicle-Controlled and Open-Label Concurrent Trials for Basal Cell Carcinoma Prevention and Therapy in Patients with Basal Cell Nevus Syndrome

    PubMed Central

    Tang, Jean Y.; Chiou, Albert S.; Mackay-Wiggan, Julian M.; Aszterbaum, Michelle; Chanana, Anita M.; Lee, Wayne; Lindgren, Joselyn A.; Raphael, Maria Acosta; Thompson, Bobbye J.; Bickers, David R.; Epstein, Ervin H.

    2014-01-01

    Sporadic human basal cell carcinomas (BCCs) are generally well managed with current surgical modalities. However in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-? and RAR-? receptors. We previously demonstrated tazarotene’s robust anti-BCC efficacy in Ptch1+/- mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in BCNS patients evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N=34 subjects), along with an open-label trial evaluating tazarotene’s efficacy for chemotherapy of BCC lesions (N=36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS. We hypothesize that the discrepancy between the efficacy seen in Ptch1+/- mice as compared to that seen in PTCH1+/-, BCNS patients, may relate to the superior barrier function of human skin and the greater depth of human BCCs. PMID:24441673

  5. Metformin therapy in polycystic ovary syndrome reduces hyperinsulinemia, insulin resistance, hyperandrogenemia, and systolic blood pressure, while facilitating normal menses and pregnancy.

    PubMed

    Velazquez, E M; Mendoza, S; Hamer, T; Sosa, F; Glueck, C J

    1994-05-01

    Using polycystic ovary syndrome (PCOS) as a model of insulin resistance and hyperandrogenism, our specific aim was to assess the effect of Metformin on lipoproteins, sex hormones, gonadotropins, and blood pressure in 26 women with PCOS who were studied at baseline, received Metformin 1.5 g/d for 8 weeks, and were then restudied. None of the women had normal menstrual cycles, 100% had multiple subcapsular follicules by pelvic ultrasound, 90% were hirsute, and 85% had high free testosterone. Comparing post-Metformin versus baseline levels, the Quetelet Index (QI) decreased 1.5% (P = .04) and the waist to hip ratio (WHR) decreased 2.8% (P = .003). After covariance adjusting for changes in the QI and WHR, on Metformin the area under the insulin curve (IA) during oral glucose tolerance testing decreased 35% (P = .04), and the insulin area to glucose area ratio decreased 31% (P = .03). On Metformin, covariance-adjusted systolic blood pressure (SBP) decreased (P = .04) and apo A-1 increased (P = .05). On Metformin, with improvement in insulin sensitivity, there were sharp reductions in covariance-adjusted luteinizing hormone ([LH] P = .0007), total testosterone ([T] P = .0004), free T (P = .0001), androstenedione (P = .002), dehydroepiandrosterone sulfate ([DHEAS] P = .006), and the free androgen index ([FAI] P = .0005), with increments in follicle-stimulating hormone ([FSH] P = .04) and sex hormone-binding globulin ([SHBG] P = .04).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8177055

  6. Complex regional pain syndrome

    PubMed Central

    Palmer, Greta

    2015-01-01

    SUMMARY Complex regional pain syndrome is an uncommon chronic pain condition. It develops spontaneously or following an injury. The features are limb pain, allodynia, hypersensitivity, hyperalgesia, abnormalities of the vasomotor, sudomotor and motor systems, and trophic changes, with reduced use of the affected limb. The diagnosis is clinical and one of exclusion. The emphasis of therapy is graded rehabilitation and movement of the limb with physiotherapy and occupational therapy. Psychological therapies should be offered if a patient is making no or slow progress in the acute phase, and to all patients in the chronic phase as depression can occur. The goal of pharmacotherapy is to assist functional improvement. The early phase may be managed with simple analgesia. Antineuropathic drugs including tricyclic antidepressants and antiepileptic drugs may be added. Other treatments with some evidence of effectiveness include corticosteroids, calcitonin and bisphosphonates. Vitamin C has been used for primary prevention after wrist fracture and upper and lower limb surgery. There is no evidence that it is effective for treating established complex regional pain syndrome. PMID:26648626

  7. Progressive multifocal leukoencephalopathy therapy.

    PubMed

    Clifford, David B

    2015-12-01

    Progressive multifocal leukoencephalopathy (PML) is caused by the JC virus in the setting of chronic immune deficiency. Developing therapy has been challenged by the rarity of the disease as well as the complexity of patients in whom it develops. Several small trials directed at presumptive antiviral therapies have failed to show convincing clinical efficacy. However, the prognosis of PML has evolved from an almost uniformly fatal encephalitis to a disease where a majority of patients survive. This improvement in outlook has been driven by effective immune reconstitution strategies for the underlying disease, most prominently the improved therapy for human immunodeficiency virus and ability to reverse the effects of natalizumab. While a rapid acting and effective antiviral therapy remains a sought for goal, optimal immune reconstitution to control JC virus without causing brain-damaging immune reconstitution inflammatory syndrome (IRIS) currently is the most practical approach to treat PML. PMID:25227934

  8. Reiter's syndrome.

    PubMed

    Schneider, Joseph M; Matthews, Jeanette H; Graham, Bradley S

    2003-03-01

    Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis. PMID:12661746

  9. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. PMID:26259326

  10. Laparoscopic ovarian electrocautery versus gonadotropin therapy in infertile women with clomiphene citrate-resistant polycystic ovary syndrome: A systematic review and meta-analysis

    PubMed Central

    Moazami Goudarzi, Zahra; Fallahzadeh, Hossein; Aflatoonian, Abbas; Mirzaei, Masoud

    2014-01-01

    Background: Some trials have compared laparoscopic ovarian drilling (LOD) with gonadotropins but, because of variations in study design and small sample size, the results are inconsistent and definitive conclusions about the relative efficacy of LOD and gonadotropins cannot be extracted from the individual studies. Objective: To evaluate the relative efficacy of LOD and gonadotropins for infertile women with clomiphene citrate- resistant poly cystic ovary syndrome (PCOS). Materials and Methods: A complete electronic literature search in databases including EMBASE, MEDLINE, Cochrane Library and Google scholar for some specific keywords was accomplished. We contained randomized clinical trials comparing outcomes between LOD, without medical ovulation induction, and gonadotropins. Results: Six trials, covering 499 women, reported on the primary outcome of pregnancy rate. There was no evidence of a difference in pregnancy rate when LOD compared with gonadotropins (OR: 0.534; 95% CI: 0.242-1.176, p=0.119, 6 trials, 499 women, I2=73.201%). There was evidence of significantly fewer live births following LOD compared with gonadotropin (OR: 0.446; 95% CI: 0.269-0.74, p=0.02, 3 trials, 318 women, I2=3.353%). The rate of multiple pregnancies was significantly lower in the LOD arm compared to the gonadotropins arm (OR: 0.127; 95% CI: 0.028-0.579, p=0.008, 3 trials, 307 women, I2=0%). Conclusion: Our result revealed that there was no evidence of a significant difference in rates of clinical pregnancy and miscarriage in women with clomiphene citrate-resistant PCOS undergoing LOD compared to the gonadotropin arm. The decrease in multiple pregnancies rate in women undergoing LOD makes this option attractive. The increase in live birth rate in the gonadotropin group may be because of the higher rate of multiple pregnancies in these women. However, more focus on the long-term effects of LOD on ovarian function is suggested. PMID:25408702

  11. The effects of symbiotic therapy on anthropometric measures, body composition and blood pressure in patient with metabolic syndrome: a triple blind RCT

    PubMed Central

    Rabiei, Samira; Shakerhosseini, Rahebeh; Saadat, Navid

    2015-01-01

    Background: Increase in prevalence of obesity and type 2 diabetes which are of the main risk factors of metabolic syndrome, is not only the result of changes in genetic, diet or physical activity, but also an imbalance of micro flora may play an important role. Therefore, alteration of micro flora using pre/probiotic is considered as a new strategy for treatment of metabolic disorders. Methods: The current study is a triple blind randomized controlled trial. 46 patients from both sexes, who fulfilled inclusion criteria, randomly categorized into intervention or placebo group. The intervention and placebo groups consumed 2 probiotic capsules or 2 placebo capsules during 3 months, respectively. Both groups received a weight loss diet, according to their adjusted ideal body weight. Anthropometric, body composition, blood pressure and nutritional measurements were done in the beginning, at 6th week, and at the end of the study. T-test and paired-t test were used for statistical analysis. Results: 40 patients completed the study. BMI, WC, HC, fat mass, lean mass and blood pressure were reduced in all participants (p< 0.05). Systolic blood pressure in symbiotic group was less than placebo group, significantly (p< 0.05). The trend of weight loss in symbiotic group continued at least for 12 weeks while it was stopped at week 6 in placebo group. Conclusion: Symbiotic supplement with the weight loss diet had synergistic effects on improvement in systolic blood pressure and anthropometric measurements. Based on our findings, symbiotic can postpone plateau phase of weight loss and it may prevent resistance to further weight loss. PMID:26478871

  12. Serum Levels of Soluble CD26/Dipeptidyl Peptidase-IV in Type 2 Diabetes Mellitus and Its Association with Metabolic Syndrome and Therapy with Antidiabetic Agents in Malaysian Subjects

    PubMed Central

    Ahmed, Radwan H.; Huri, Hasniza Zaman; Al-Hamodi, Zaid; Salem, Sameer D.; Muniandy, Sekaran

    2015-01-01

    Background A soluble form of CD26/dipeptidyl peptidase-IV (sCD26/DPP-IV) induces DPP-IV enzymatic activity that degrades incretin. We investigated fasting serum levels of sCD26/DPP-IV and active glucagon-like peptide-1 (GLP-1) in Malaysian patients with type 2 diabetes mellitus (T2DM) with and without metabolic syndrome (MetS), as well as the associations between sCD26/DPP-IV levels, MetS, and antidiabetic therapy. Methods We assessed sCD26/DPP-IV levels, active GLP-1 levels, body mass index (BMI), glucose, insulin, A1c, glucose homeostasis indices, and lipid profiles in 549 Malaysian subjects (including 257 T2DM patients with MetS, 57 T2DM patients without MetS, 71 non-diabetics with MetS, and 164 control subjects without diabetes or metabolic syndrome). Results Fasting serum levels of sCD26/DPP-IV were significantly higher in T2DM patients with and without MetS than in normal subjects. Likewise, sCD26/DPP-IV levels were significantly higher in patients with T2DM and MetS than in non-diabetic patients with MetS. However, active GLP-1 levels were significantly lower in T2DM patients both with and without MetS than in normal subjects. In T2DM subjects, sCD26/DPP-IV levels were associated with significantly higher A1c levels, but were significantly lower in patients using monotherapy with metformin. In addition, no significant differences in sCD26/DPP-IV levels were found between diabetic subjects with and without MetS. Furthermore, sCD26/DPP-IV levels were negatively correlated with active GLP-1 levels in T2DM patients both with and without MetS. In normal subjects, sCD26/DPP-IV levels were associated with increased BMI, cholesterol, and LDL-cholesterol (LDL-c) levels. Conclusion Serum sCD26/DPP-IV levels increased in T2DM subjects with and without MetS. Active GLP-1 levels decreased in T2DM patients both with and without MetS. In addition, sCD26/DPP-IV levels were associated with Alc levels and negatively correlated with active GLP-1 levels. Moreover, metformin monotherapy was associated with reduced sCD26/DPP-IV levels. In normal subjects, sCD26/DPP-IV levels were associated with increased BMI, cholesterol, and LDL-c. PMID:26474470

  13. Syndrome in Question*

    PubMed Central

    Meireles, Sheila Itamara Ferreira do Couto; de Andrade, Sônia Maria Fonseca; Gomes, Maria Fernanda; Castro, Fernanda Almeida Nunes; Tebcherani, Antonio José

    2014-01-01

    Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

  14. Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy

    PubMed Central

    Kochhar, Harpreet; Leger, Chantal S.; Leitch, Heather A.

    2015-01-01

    Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient's course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias. PMID:25918650

  15. Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy.

    PubMed

    Kochhar, Harpreet; Leger, Chantal S; Leitch, Heather A

    2015-01-01

    Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient's course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias. PMID:25918650

  16. Impact of highly active antiretroviral therapy on oral manifestations of patients with human immunodeficiency virus/acquired immuno deficiency syndrome in South India

    PubMed Central

    Rao, K. V. S. Eswara; Chitturi, Ravi Teja; Kattappagari, Kiran Kumar; Kantheti, Lalith Prakash Chandra; Poosarla, Chandrasekhar; Baddam, Venkat Ramana Reddy

    2015-01-01

    Background: Human immunodeficiency virus (HIV) infection remains a global health problem, although the development of highly active antiretroviral therapy (HAART) has significantly modified the course of HIV disease into a manageable disease with improved quality-of-life mainly in the developed countries. Very few studies are available regarding effect of HAART on oral lesions in developing countries like India. Aims and Objectives: The aim was to document and compare oral lesions in HIV-seropositive patients before and after HAART. Materials and Methods: Oral manifestations were recorded in 320 HIV seropositive patients attending to the Voluntary Counseling and Confidential Testing Centre at the Government General Hospital, Guntur, before and after treating with HAART and the results were statistically analyzed using Student's t-test and Chi-square test. Results: Oral Candidiasis was significantly reduced in patients under HAART after 3 months. Furthermore, there was decreased incidence of periodontal diseases, but increased hyperpigmentation in patients undergoing HAART. Conclusion: The oral manifestations of HIV infection have changed due to the advent of HAART. Many opportunistic infections have resolved as a result of an improved immune system. Though the risk of hyperpigmentation in those with HAART has increased the prevalence of oral candidiasis and periodontal diseases were less in patients who had access to HAART. PMID:26392652

  17. The acute respiratory distress syndrome

    PubMed Central

    Gupta, Pooja

    2015-01-01

    The acute respiratory distress syndrome (ARDS) is a major cause of acute respiratory failure. Its development leads to high rates of mortality, as well as short- and long-term complications, such as physical and cognitive impairment. Therefore, early recognition of this syndrome and application of demonstrated therapeutic interventions are essential to change the natural course of this devastating entity. In this review article, we describe updated concepts in ARDS. Specifically, we discuss the new definition of ARDS, its risk factors and pathophysiology, and current evidence regarding ventilation management, adjunctive therapies, and intervention required in refractory hypoxemia. PMID:25829644

  18. Syndrome designations.

    PubMed Central

    Cohen, M M

    1976-01-01

    Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. PMID:957375

  19. Velocardiofacial syndrome.

    PubMed Central

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and present in the general population. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9497944

  20. Neurologic manifestations of Angelman syndrome.

    PubMed

    Thibert, Ronald L; Larson, Anna M; Hsieh, David T; Raby, Annabel R; Thiele, Elizabeth A

    2013-04-01

    Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched ? and rhythmic ? activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome. PMID:23498559

  1. [Biological age and the pain syndrome at diabetic polyneuropathy].

    PubMed

    Galkin, V V; Nesterova, M V; Emel'ianov, V V

    2011-01-01

    Patients with diabetic polyneuropathy were examined to study their biological age, rate of aging and pain syndrome. More rapid rate of aging was revealed in patients with diabetic polyneuropathy and pain syndrome. Using Duloxetin and Gabapentin is reliable to decrease the display of pain syndrome in diabetic polyneuropathy patients. Against the background of pain syndrome therapy the rate of aging is noticed to decrease along with the regression of pain syndrome. The medicines of Duloxetin and Gabapentin which are used during depression and epilepsy protect against aging. PMID:21957592

  2. Human Gene Therapy: Genes without Frontiers?

    ERIC Educational Resources Information Center

    Simon, Eric J.

    2002-01-01

    Describes the latest advancements and setbacks in human gene therapy to provide reference material for biology teachers to use in their science classes. Focuses on basic concepts such as recombinant DNA technology, and provides examples of human gene therapy such as severe combined immunodeficiency syndrome, familial hypercholesterolemia, and…

  3. [Autoinflammatory syndromes/fever syndromes].

    PubMed

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1?. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned. PMID:21541834

  4. Aicardi syndrome

    MedlinePLUS

    ... 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may ... completely missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic ...

  5. Tourette Syndrome

    MedlinePLUS

    ... Tourette (pronounced: tuh-RET) syndrome, named for the French doctor Georges Gilles de la Tourette, who first ... get the condition. Doctors and researchers are continually learning new information about TS and what might lead ...

  6. Postthrombotic Syndrome

    MedlinePLUS

    ... syndrome. Blood . 2009 ; 114 : 4624 –4631. Abstract / FREE Full Text ? Vazquez SR, Freeman A, VanWoerkom RC, Rondina MT. ... CIRCULATIONAHA.109.925651 Extract Free Figures Only Free » Full Text Free PDF Free PPT Slides of All Figures ...

  7. Reye syndrome

    MedlinePLUS

    ... Reye syndrome: Confusion Lethargy Loss of consciousness or coma Mental changes Nausea and vomiting Seizures Unusual placement ... breathing machine may be needed during a deep coma) Fluids by IV to provide electrolytes and glucose ...

  8. Duane Syndrome

    MedlinePLUS

    ... the eye muscles. In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle ... abnormal innervation of a branch from the third cranial nerve, which normally controls the medial rectus muscle (the ...

  9. Potter syndrome

    MedlinePLUS

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  10. Rett Syndrome

    MedlinePLUS

    ... Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early ... occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss ...

  11. Alport syndrome

    MedlinePLUS

    ... Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because the disorder is inherited.

  12. Usher Syndrome

    MedlinePLUS

    ... called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) ... to progress rapidly until the person is completely blind. Type 2 Children with type 2 Usher syndrome ...

  13. Neurocutaneous Syndromes

    MedlinePLUS

    ... local hospital or university for seminars or informational classes about neurocutaneous syndromes. Education can help you be ... site. Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and ...

  14. Serotonin syndrome

    MedlinePLUS

    ... syndrome will be considered. Tests may include: Blood cultures (to check for infection) Complete blood count (CBC) CT scan of the brain Drug (toxicology) and alcohol screen Electrolyte levels Electrocardiogram (ECG) Kidney and liver ...

  15. Sjogren's Syndrome

    MedlinePLUS

    ... recurrent mouth infections, swollen parotid glands, hoarseness, and difficulty in swallowing and eating. Debilitating fatigue and joint pain can seriously impair quality of life. What research is being done? The goals of research on disorders such as Sjögren's syndrome ...

  16. Bartter syndrome

    MedlinePLUS

    ... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...

  17. Marfan Syndrome

    MedlinePLUS

    ... de fácil lectura) Other Information Heritable Disorders of Connective Tissue, Q&A Order a NIAMS publication to be ... syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to ...

  18. Marfan Syndrome

    MedlinePLUS

    ... disorder in 1896. Marfan syndrome affects the body's connective tissue. Connective tissue is found everywhere in the body. Think of ... a special type of protein that's found in connective tissue. Weakened connective tissue can lead to problems in ...

  19. Marfan Syndrome

    MedlinePLUS

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the ...

  20. Cushing Syndrome

    MedlinePLUS

    ... The syndrome is named after a brain surgeon, Harvey Cushing, who identified the condition in 1932. 2 ... Shlomo, M., Polonsky, K.S, Larsen, P.R., eds. Williams. Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders ...

  1. Behcet's Syndrome

    MedlinePLUS

    Behcet's syndrome is a disease that involves inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  2. Klinefelter Syndrome

    MedlinePLUS

    ... and guys' bodies begin to make sex hormones, boys with Klinefelter usually don't produce as much ... can affect things like penis and testicle growth. Boys with Klinefelter syndrome may also have problems with ...

  3. Metabolic Syndrome

    MedlinePLUS

    ... to Web version Metabolic Syndrome Overview What is insulin resistance? Your body changes most of the food you ... to insulin. Doctors refer to this condition as insulin resistance. If you have insulin resistance, your body will ...

  4. Marfan syndrome

    PubMed Central

    Jain, Eesha; Pandey, Ramesh Kumar

    2013-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals. PMID:24336584

  5. Klinefelter syndrome

    MedlinePLUS

    ... arthritis , and Sjogren syndrome Breast cancer in men Depression Learning disabilities, including dyslexia, which affects reading A rare type of tumor called an extragonadal germ cell tumor Lung disease Osteoporosis Varicose veins

  6. Fanconi syndrome

    MedlinePLUS

    ... common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium Lowe's disease, a rare genetic disorder of the eyes, brain, and kidneys Wilson's disease ...

  7. Down Syndrome

    MedlinePLUS

    ... or problems with their heart, stomach or eyes. Intelligence ranges from low normal to very retarded (slow ... a baby who has Down syndrome will be. Intelligence ranges from low normal to very retarded (slow ...

  8. Hyperimmunoglobulin E syndrome

    MedlinePLUS

    Job syndrome; Hyper IgE syndrome ... Hyperimmunoglobulin E syndrome is also called Job syndrome, after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this ...

  9. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Carpal Tunnel Syndrome Information Page Condensed from Carpal Tunnel Syndrome Fact ... en Español Additional resources from MedlinePlus What is Carpal Tunnel Syndrome? Carpal tunnel syndrome is a painful condition caused ...

  10. Post-Polio Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Post-Polio Syndrome Information Page Condensed from Post-Polio Syndrome ... Español Additional resources from MedlinePlus What is Post-Polio Syndrome? Post-polio syndrome (PPS) is a condition ...

  11. Shaken Baby Syndrome

    MedlinePLUS

    NINDS Shaken Baby Syndrome Information Page Table of Contents (click to jump to sections) What is Shaken Baby Syndrome? Is there ... Trials Organizations Publicaciones en Español What is Shaken Baby Syndrome? Shaken baby syndrome is a type of ...

  12. Androgen insensitivity syndrome

    MedlinePLUS

    ... at the tip Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) Infertile male syndrome ... F, Leveno KJ, Bloom SL, et al., eds. Williams Obstetrics . 23rd ed. New York, NY: McGraw-Hill, ...

  13. Facts about Down Syndrome

    MedlinePLUS

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... families affected by Down syndrome » What is Down Syndrome? Down syndrome is a condition in which a ...

  14. Miller Fisher Syndrome

    MedlinePLUS

    NINDS Miller Fisher Syndrome Information Page Synonym(s): Fisher Syndrome Table of Contents (click to jump to sections) What is Miller Fisher ... and Information Publicaciones en Español What is Miller Fisher Syndrome? Miller Fisher syndrome is a rare, acquired ...

  15. Learning about WAGR Syndrome

    MedlinePLUS

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  16. Tourette Syndrome: Update.

    PubMed

    Hallett, Mark

    2015-08-01

    Tourette Syndrome is a disorder characterized by tics. It typically begins in childhood and often improves in adult life. Tics are best described as voluntary movements made automatically so that volition is not ordinarily appreciated. There is frequently an urge, sometimes in the form of a specific sensory feeling (sensory tic), that precedes the tic. Patients say that they make the tic in order to reduce the urge, although shortly after the tic, the urge recurs. The sensory feeling may arise due to defective sensory habituation. Since tics relieve the urge, this can be considered rewarding, and repetition of this behavior may perpetuate the tic as a habit. Tourette Syndrome affects boys more than girls and is associated with attention deficit hyperactivity disorder and obsessive compulsive disorder. Although Tourette Syndrome often appears to be autosomal recessive in inheritance, it has been difficult to find any abnormal genes. There is a loss of inhibition in these patients and recent studies show abnormalities in brain GABA. Certainly there is also an abnormality in dopamine function and dopamine blocking agents are effective therapy. In severe drug-refractory patients, deep brain stimulation can be effective. PMID:25604739

  17. Metabolic Syndrome: Hyperlipidemia.

    PubMed

    Bragg, Dee Ann Stults; Walling, Anne

    2015-08-01

    Metabolic syndrome is associated with an elevated risk of cardiovascular disease and premature mortality. When metabolic syndrome includes lipid abnormalities, management goals are weight loss and cardiovascular risk management through lifestyle modifications (eg, diet, exercise), and, when appropriate, lowering of lipid levels with pharmacotherapy. Healthy diets are recommended, particularly the Mediterranean diet. Patients also should set a goal of at least 30 minutes of moderate to vigorous exercise on most, preferably all, days of the week. Guidelines provide criteria for statin treatment based on overall cardiovascular risk. High-intensity statin treatment (eg, rosuvastatin 20 to 40 mg, atorvastatin 40 to 80 mg) typically is recommended unless the patient cannot tolerate therapy. Approximately 5% of patients experience statin-induced myalgia, in which case moderate-intensity treatment can be tried. Lipid levels should be reevaluated 4 to 12 weeks after initiating therapy; lipid levels can be measured without fasting. A lack of improvement often indicates nonadherence. Bile acid sequestrants, fibric acids, and niacin can be used if other drugs are not tolerated. The evidence to support use of integrative medicine is limited, but the strongest evidence of benefit is for garlic (Allium sativum). PMID:26280341

  18. What Are the Treatments for Prader-Willi Syndrome?

    MedlinePLUS

    ... GH therapy can help improve speech, improve abstract reasoning, and often allow information to be processed more ... Willi syndrome: A 4-year study. Journal of Clinical Endocrinology & Metabolism, 87 , 1581-1585. [top] Buiting, K., ...

  19. [Involvement of eating disorders in metabolic syndrome].

    PubMed

    Suzuki, Mari Hotta

    2015-04-01

    This article gives an outline about involvement of eating disorders in metabolic syndrome. Anorexia nervosa and bulimia nervosa become common diseases in woman in Japan. Binge-eating disorder and night eating syndrome are observed in men as well as women. Binge eating is characteristic of bulimia nervosa, binge-eating disorder and night eating syndrome. It should be noted that high energy availability observed in these diseases results in obesity and exacerbate metabolic syndrome. Cognitive-behavioral therapy and medication with selective serotonin reuptake inhibitors(SSRIs) can make patients to control symptoms and improve their QOL. Osteoporosis is one of chief complications and sequelae of anorexia nervosa. Low-birth weight babies born from emaciated patients with eating disorders are subject to metabolic syndrome in the future. PMID:25936153

  20. Treatment of repetitive use carpal tunnel syndrome

    NASA Astrophysics Data System (ADS)

    Smith, Chadwick F.; Vangsness, C. Thomas; Anderson, Thomas; Good, Wayne

    1995-05-01

    In 1990, a randomized, double-blind study was initiated to evaluate the use of an eight-point conservative treatment program in carpal tunnel syndrome. A total of 160 patients were delineated with symptoms of carpal tunnel syndrome. These patients were then divided into two groups. Both groups were subjected to an ergonomically correct eight-point work modification program. A counterfeit low level laser therapy unit was utilized in Group A, while an actual low level laser therapy unit was utilized in Group B. The difference between Groups A and B was statistically significant in terms of return to work, conduction study improvement, and certain range of motion and strength studies.

  1. Moderate Hemoptysis Caused by Hughes-Stovin Syndrome

    PubMed Central

    El Aoud, Sahar; Frikha, Faten; Snoussi, Mouna; Bahloul, Zouhir

    2014-01-01

    Hughes and Stovin first reported a syndrome consisting of multiple pulmonary artery aneurysms and venous thrombosis in 1959. Here, we encountered a 42-year old woman who had hemoptysis revealing a Hughes-Stovin syndrome. Helical computed tomography showed multiple pulmonary artery aneurysms with pulmonary thromboembolism. The patient was treated with steroid therapy, cyclophosphamide and anticoagulation with a good response. PMID:25568765

  2. Effects of Topiramate in Adults with Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Shapira, Nathan A.; Lessig, Mary C.; Lewis, Mark H.; Goodman, Wayne K.; Driscoll, Daniel J.

    2004-01-01

    Prader-Willi syndrome is a multisystem neurogenetic obesity disorder with behavioral manifestations, including hyperphagia, compulsive behavior, self-injury, and mild to moderate mental retardation. In an 8-week open-label study, we evaluated adjunctive therapy with the anticonvulsant topiramate in 8 adults with Prader-Willi syndrome. Appetite was…

  3. Phantom breast syndrome.

    PubMed

    Ramesh; Shukla, Nootan K; Bhatnagar, Sushma

    2009-07-01

    Phantom breast syndrome is a type of condition in which patients have a sensation of residual breast tissue and can include both non-painful sensations as well as phantom breast pain. The incidence varies in different studies, ranging from approximately 30% to as high as 80% of patients after mastectomy. It seriously affects quality of life through the combined impact of physical disability and emotional distress. The breast cancer incidence rate in India as well as Western countries has risen in recent years while survival rates have improved; this has effectively increased the number of women for whom post-treatment quality of life is important. In this context, chronic pain following treatment for breast cancer surgery is a significantly under-recognized and under-treated problem. Various types of chronic neuropathic pain may arise following breast cancer surgery due to surgical trauma. The cause of these syndromes is damage to various nerves during surgery. There are a number of assumed factors causing or perpetuating persistent neuropathic pain after breast cancer surgery. Most well-established risk factors for developing phantom breast pain and other related neuropathic pain syndromes are severe acute postoperative pain and greater postoperative use of analgesics. Based upon current evidence, the goals of prophylactic strategies could first target optimal peri-operative pain control and minimizing damage to nerves during surgery. There is some evidence that chronic pain and sensory abnormalities do decrease over time. The main group of oral medications studied includes anti-depressants, anticonvulsants, opioids, N-methyl-D-asparate receptor antagonists, mexilitine, topical lidocaine, cannabinoids, topical capsaicin and glysine antagonists. Neuromodulation techniques such as motor cortex stimulation, spinal cord stimulation, and intrathecal drug therapies have been used to treat various neuropathic pain syndromes. PMID:20668586

  4. Transient Serotonin Toxicity Evoked by Combination of Electroconvulsive Therapy and Fluoxetine

    PubMed Central

    Bjerg Bendsen, Birgitte

    2014-01-01

    The serotonin syndrome has been described only in rare instances for electroconvulsive therapy combined with an antidepressant medication. We describe a case of serotonin toxicity induced by electroconvulsive therapy in combination with fluoxetine. PMID:24982810

  5. Behavior Therapy

    MedlinePLUS

    ... Email Print Share Behavior Therapy for Children with ADHD Article Body Behavior Therapy Has 3 Basic Principles: ... using both medication and behavior therapy to treat attention-deficit/hyperactivity disorder (ADHD) . This is known as a multimodal treatment ...

  6. Radiation Therapy

    MedlinePLUS

    ... Professionals Questions to Ask about Your Treatment Research Radiation Therapy Radiation therapy (also called radiotherapy) is a ... rays of your teeth or broken bones. How Radiation Therapy Works against Cancer At high doses, radiation ...

  7. Pharmacotherapy of Acute Lung Injury and the Acute Respiratory Distress Syndrome

    PubMed Central

    Cepkova, Magda; Matthay, Michael A.

    2009-01-01

    Acute lung injury and the acute respiratory distress syndrome are common syndromes with a high mortality rate that affect both medical and surgical patients. Better understanding of the pathophysiology of acute lung injury and the acute respiratory distress syndrome and advances in supportive care and mechanical ventilation have led to improved clinical outcomes since the syndrome was first described in 1967. Although several promising pharmacological therapies, including surfactant, nitric oxide, glucocorticoids and lysofylline, have been studied in patients with acute lung injury and the acute respiratory distress syndrome, none of these pharmacological treatments reduced mortality. This article provides an overview of pharmacological therapies of acute lung injury and the acute respiratory distress syndrome tested in clinical trials and current recommendations for their use as well as a discussion of potential future pharmacological therapies including ?2- adrenergic agonist therapy, keratinocyte growth factor, and activated protein C. PMID:16672636

  8. Multi-Center Biologic Assignment Trial Comparing Reduced Intensity Allogeneic Hematopoietic Cell Transplant to Hypomethylating Therapy or Best Supportive Care in Patients Aged 50-75 with Intermediate-2 and High Risk Myelodysplastic Syndrome Blood and Marrow Transplant Clinical Trials Network #1102 Study Rationale, Design and Methods

    PubMed Central

    Saber, Wael; Le Rademacher, Jennifer; Sekeres, Mikkael; Logan, Brent; Lewis, Moira; Mendizabal, Adam; Leifer, Eric; Appelbaum, Frederick R.; Horowitz, Mary M; Nakamura, Ryotaro; Cutler, Corey S.

    2014-01-01

    The introduction of reduced intensity conditioning regimens (RIC) made it possible to offer allogeneic hematopoietic cell transplantation (alloHCT) to older patients with myelodysplastic syndromes (MDS). However, the relative risks and benefits of alloHCT compared to novel non-transplant therapies continue to be the source of considerable uncertainty. We will perform a prospective biologic assignment trial to compare RIC alloHCT to non-transplant therapies based on donor availability. Primary outcome is 3-year overall survival. Secondary outcomes include leukemia-free survival, quality of life, and cost-effectiveness. Four hundred patients will be enrolled over roughly 3 years. Planned subgroup analyses will evaluate key biologic questions, such as the impact of age & response to hypomethylating agents on treatment effects. Findings from this study potentially may set a new standard of care for older MDS patients who are considered candidates for alloHCT. PMID:24972249

  9. Hormone therapy

    MedlinePLUS

    HRT; Estrogen replacement therapy; ERT; Hormone replacement therapy ... vaginal dryness and pain with intercourse. The hormone estrogen protects against thinning of the bones ( osteoporosis ). However, ...

  10. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  11. Flammer syndrome

    PubMed Central

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  12. Flammer syndrome.

    PubMed

    Konieczka, Katarzyna; Ritch, Robert; Traverso, Carlo Enrico; Kim, Dong Myung; Kook, Michael Scott; Gallino, Augusto; Golubnitschaja, Olga; Erb, Carl; Reitsamer, Herbert A; Kida, Teruyo; Kurysheva, Natalia; Yao, Ke

    2014-01-01

    The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment. PMID:25075228

  13. 1 Art Therapy ART THERAPY

    E-print Network

    Vertes, Akos

    therapeutic practice. Overview of psychotherapy theories relevant to art therapy. Open only to art therapy and psychotherapy in light of the creative process and other aspects of the clinical practice of art therapy. Client

  14. Pelvic Congestion Syndrome

    PubMed Central

    Durham, Janette D.; Machan, Lindsay

    2013-01-01

    Patients with pelvic congestion syndrome present with otherwise unexplained chronic pelvic pain that has been present for greater than 6 months, and anatomic findings that include pelvic venous insufficiency and pelvic varicosities. It remains an underdiagnosed explanation for pelvic pain in young, premenopausal, usually multiparous females. Symptoms include noncyclical, positional lower back, pelvic and upper thigh pain, dyspareunia, and prolonged postcoital discomfort. Symptoms worsen throughout the day and are exacerbated by activity or prolonged standing. Examination may reveal ovarian tenderness and unusual varicosities—vulvoperineal, posterior thigh, and gluteal. Diagnosis is suspected by clinical history and imaging that demonstrates pelvic varicosities. Venography is usually necessary to confirm ovarian vein reflux, although transvaginal ultrasound may be useful in documenting this finding. Endovascular therapy has been validated by several large patient series with long-term follow-up using standardized pain assessment surveys. Embolization has been shown to be significantly more effective than surgical therapy in improving symptoms in patients who fail hormonal therapy. Although there has been variation in approaches between investigators, the goal is elimination of ovarian vein reflux with or without direct sclerosis of enlarged pelvic varicosities. Symptom reduction is seen in 70 to 90% of the treated females despite technical variation. PMID:24436564

  15. Paraneoplastic syndromes associated with lung cancer

    PubMed Central

    Kanaji, Nobuhiro; Watanabe, Naoki; Kita, Nobuyuki; Bandoh, Shuji; Tadokoro, Akira; Ishii, Tomoya; Dobashi, Hiroaki; Matsunaga, Takuya

    2014-01-01

    Paraneoplastic syndromes are signs or symptoms that occur as a result of organ or tissue damage at locations remote from the site of the primary tumor or metastases. Paraneoplastic syndromes associated with lung cancer can impair various organ functions and include neurologic, endocrine, dermatologic, rheumatologic, hematologic, and ophthalmological syndromes, as well as glomerulopathy and coagulopathy (Trousseau’s syndrome). The histological type of lung cancer is generally dependent on the associated syndrome, the two most common of which are humoral hypercalcemia of malignancy in squamous cell carcinoma and the syndrome of inappropriate antidiuretic hormone secretion in small cell lung cancer. The symptoms often precede the diagnosis of the associated lung cancer, especially when the symptoms are neurologic or dermatologic. The proposed mechanisms of paraneoplastic processes include the aberrant release of humoral mediators, such as hormones and hormone-like peptides, cytokines, and antibodies. Treating the underlying cancer is generally the most effective therapy for paraneoplastic syndromes, and treatment soon after symptom onset appears to offer the best potential for symptom improvement. In this article, we review the diagnosis, potential mechanisms, and treatments of a wide variety of paraneoplastic syndromes associated with lung cancer. PMID:25114839

  16. Posterior reversible encephalopathy syndrome with tactile hallucinations secondary to dialysis disequilibrium syndrome.

    PubMed

    Soomro, Abdulsalam; Al Bahri, Raiya; Alhassan, Noor; Hejaili, Fayez F; Al Sayyari, Abdulla A

    2014-05-01

    We report what we believe is the first case of posterior reversible encephalopathy syndrome (PRES) secondary to dialysis disequilibrium syndrome (DDS) in patients in whom all other possible causes of PRES were excluded and in whom a transient episode of tactile hallucination also occurred. We believe that this case of DDS was particularly severe, leading to PRES because of the late institution of dialysis therapy and the concomitant severe degree of metabolic acidosis on presentation. PMID:24821163

  17. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  18. Levator Syndrome

    MedlinePLUS

    ... Normal (News) Small Hospitals Seeing More Drug-Resistant E. Coli Infections Additional Content Medical News Levator Syndrome By Parswa ... News HealthDay Small Hospitals Seeing More Drug-Resistant E. Coli Infections WEDNESDAY, Oct. 14, 2015 (HealthDay News) -- Drug-resistant ...

  19. Alport Syndrome

    MedlinePLUS

    ... older the risk of kidney failure increases. All boys and girls with the autosomal recessive type of Alport Syndrome ... with this disease have the X-linked type. Boys with this type are severely ... in their lives. Girls with this type usually have milder symptoms than ...

  20. Pendred Syndrome

    MedlinePLUS

    ... to gain communication skills, such as learning sign language or cued speech or learning to use a hearing aid . Most people with Pendred syndrome will have hearing loss significant enough to be considered ... speech, and language. Use the following keywords to help you find ...

  1. Stratifying primary Sjögren's syndrome: killers in the balance?

    PubMed

    Bowman, Simon J; Fisher, Benjamin A

    2015-01-01

    The article by Seror et al. in Arthritis Research & Therapy reports data from the 15 French patients in the open-label BELISS (Efficacy and Safety of Belimumab in Subjects With Primary Sjögren's Syndrome, NCT01160666) study of belimumab in primary Sjögren's syndrome. The study identifies that higher baseline levels of natural killer cells in the peripheral blood and salivary glands are associated with non-response to belimumab therapy. Although caution is required given the open-label nature of the trial, this study adds to data already suggesting a role for natural killer cells in primary Sjögren's syndrome and, importantly, indicates a need for therapeutic stratification. PMID:26639390

  2. Rituximab treatment for adult purpura nephritis with nephrotic syndrome.

    PubMed

    Ishiguro, Hiroaki; Hashimoto, Tatsuo; Akata, Mariko; Suzuki, Shota; Azushima, Kengo; Kobayashi, Yusuke; Kanaoka, Tomohiko; Yoshida, Shinichiro; Wakui, Hiromichi; Oshikawa, Jin; Nagahama, Kiyotaka; Inayama, Yoshiaki; Tamura, Kouichi; Toya, Yoshiyuki; Umemura, Satoshi

    2013-01-01

    The case of a 68-year-old woman with purpura nephritis associated with nephrotic syndrome is herein described. The patient's clinical course and the findings of a renal biopsy study revealed purpura nephritis. Following treatment with corticosteroids and intravenous cyclophosphamide accompanied by an angiotensin II type I receptor-blocker, an anti-platelet drug and an hydroxymethylglutaryl (HMG)-CoA, the proteinuria mildly decreased. Additional rituximab therapy led to a complete remission. This report describes our successful experience using rituximab to treat refractory nephrotic syndrome of purpura nephritis. Further studies are required to confirm the efficacy of rituximab as an alternative therapy for nephrotic syndrome. PMID:23676594

  3. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.

    PubMed

    Gohda, Yuji; Oka, Shohki; Matsunaga, Takamoto; Watanabe, Satoshi; Yoshiura, Koh-ichiro; Kondoh, Tatsuro; Matsumoto, Tadashi

    2015-08-01

    A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia. PMID:25944076

  4. Nijmegen breakage syndrome (NBS)

    PubMed Central

    2012-01-01

    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. Zespó? Nijmegen (Nijmegen breakage syndrome; NBS) jest rzadkim schorzeniem z wrodzon? niestabilno?ci? chromosomow? dziedzicz?cym si? w sposób autosomalny recesywny, charakteryzuj?cym si? przede wszystkim wrodzonym ma?og?owiem, z?o?onymi niedoborami odporno?ci i predyspozycj? do rozwoju nowotworów. Choroba wyst?puje najcz??ciej w populacjach s?owia?skich, w których uwarunkowana jest mutacj? za?o?ycielsk? w genie NBN (c.657_661del5). Do najwa?niejszych objawów zespo?u zalicza si?: ma?og?owie obecne od urodzenia i post?puj?ce z wiekiem, charakterystyczne cechy dysmorfii twarzy, opó?nienie wzrastania, niepe?nosprawno?? intelektualn? w stopniu lekkim do umiarkowanego oraz hipogonadyzm hipogonadotropowy u dziewcz?t. Na obraz choroby sk?adaj? si? tak?e: niedobór odporno?ci komórkowej i humoralnej, który jest przyczyn? nawracaj?cych infekcji, znaczna predyspozycja do rozwoju nowotworów z?o?liwych (zw?aszcza uk?adu ch?onnego), a tak?e zwi?kszona wra?liwo?? na promieniowanie jonizuj?ce. Wyniki bada? laboratoryjnych wykazuj?: (1) spontaniczn? ?amliwo?? chromosomów w limfocytach T krwi obwodowej, z preferencj? do rearan?acji chromosomów 7 i 14, (2) nadwra?liwo?? na promieniowanie jonizuj?ce lub radiomimetyki, co mo?na wykaza? metodami in vitro, (3) radiooporno?? syntezy DNA, (4) hipomorficzne mutacje na obu allelach genu NBN, oraz (5) brak w komórkach

  5. Asperger syndrome

    MedlinePLUS

    ... such as an obsession with train schedules, phone books, a vacuum cleaner, or collections of objects. People ... teach techniques that can be used at home Physical or occupational therapy, to help with motor skills and sensory problems ...

  6. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  7. Bilateral iridocorneal endothelial syndrome in a young girl with Down's syndrome

    PubMed Central

    Gupta, Viney; Kumar, Randhir; Gupta, Ritesh; Srinivasan, Geetha; Sihota, Ramanjit

    2009-01-01

    We describe the occurrence of bilateral iridocorneal endothelial (ICE) syndrome with glaucoma in a young girl with Down's syndrome. A 16-year-old girl with Down's syndrome was found to have secondary glaucoma in the right eye with features of progressive iris atrophy in both eyes. She was uncontrolled on maximum tolerable medical therapy for glaucoma. She underwent an uneventful trabeculectomy with mitomycin-C in her right eye. Scanning electron microscopy of the trabecular meshwork obtained in this case is described. PMID:19075416

  8. [Acute respiratory distress syndrome].

    PubMed

    Gaudry, Stéphane; Ricard, Jean-Damien; Dreyfuss, Didier

    2012-11-01

    Acute respiratory distress syndrome (ARDS) is a permeability pulmonary edema due to lung injury from various causes. In 2012, a new definition, taking into account the degree of hypoxemia and the level of positive end-expiratory pressure (PEEP), was published. In addition to progress in the support of organ failures in intensive care, mortality in patients suffering from ARDS has decreased significantly. This improved prognosis is also due to the advent of protective mechanical ventilation that has limited ventilator-induced lung injury (VILI). The treatment of ARDS consists on causative treatment and a strategy of protective ventilation associated with a PEEP level between 10 and 15 cm H20 and the use of prone position or inhaled nitric oxide in the severest cases. The role of extracorporeal membrane oxygenation as adjuvant therapy in ARDS remains unclear. PMID:23272466

  9. “Skid Row” Syndrome

    PubMed Central

    Olin, Jack S.

    1966-01-01

    From skid row, 227 chronic “drunks”, inmates of the Toronto Jail, were studied to determine the physical features and illnesses of this group. Complete physical examinations, liver function tests, routine hematology, urinalysis, chest radiographs were carried out and previous hospital records were obtained for each man. The data were analyzed by IBM computer and reported in terms of body systems. Items that occurred in sufficient frequency were separated out and listed to compile a “skid row” syndrome. The men averaged 45 years of age, had been drinking heavily for 20 years and had four drunken convictions a year. Tuberculosis was found in 8.8%. Epilepsy was confirmed in 8%. Cirrhosis of the liver was definite in 3% of the group; 75% were under the Canadian average weight, and 25% had significant body deformities. It was estimated that, if necessary therapy was carried out, 90% of the men would be able to perform useful labour. PMID:5947765

  10. [Chediak-Higashi syndrome].

    PubMed

    Wolf, J; Jacobi, C; Breer, H; Grau, A

    2006-02-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients. PMID:16205875

  11. Alström syndrome: current perspectives

    PubMed Central

    Álvarez-Satta, María; Castro-Sánchez, Sheila; Valverde, Diana

    2015-01-01

    Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies. PMID:26229500

  12. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  13. [Polyglandular autoimmune syndromes].

    PubMed

    Maurer, A; Schwarting, A; Kahaly, G J

    2011-11-01

    Polyglandular autoimmune syndromes (PGA) are a heterogeneous group of diseases in which a genetically caused dysfunction of the immune system leads to a destruction of endocrine glands with subsequent loss of function. In addition non-endocrine autoimmune diseases are also frequently present. Due to different patterns of inheritance and occurrence of disease a differentiation is made between juvenile PGA (also called APECED, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) with a monogenetic alteration of the AIRE (autoimmune regulator) gene, different ethnic distribution and a typical triad of diseases and the adult form, mainly conditioned by mutations of the HLA (human leukocyte antigens) alleles on chromosome 6. The article will briefly deal with the very rare IPEX (immune dysfunction, polyendocrinopathy, enteropathy, x-linked) syndrome, where the FOXP3 gene on chromosome X is altered. Important for the diagnosis are the clinical appearance and functional tests of the endocrine glands and the testing for antibodies. Additionally for PGA I and IPEX genetic testing is advisable. Currently patient-adjusted hormone replacement therapy is very important and screening of family members is recommended. PMID:22033826

  14. Preeclampsia: Syndrome or Disease?

    PubMed

    Myatt, Leslie; Roberts, James M

    2015-11-01

    The focus on disease mechanisms underlying the hypertension and proteinuria defining preeclampsia has increased knowledge of the pathophysiology yet we lack both therapy and predictors. We propose this is in part due to the fact that diagnostic findings identify a "preeclampsia syndrome" but do not necessarily indicate the most important pathophysiology nor if organs are involved as cause or consequence. The increased risk for later life cardiovascular disease in women who develop preeclampsia suggests the stress test of pregnancy exposes pre-existing subclinical vascular disease. The dogma that inadequate trophoblast invasion and ischemia/reperfusion injury to the placenta is "the" cause of preeclampsia is more relevant to early onset preeclampsia (<34 weeks). There is much less evidence for defective placentation in late onset preeclampsia where maternal constitutive factors or susceptibility to vascular damage is more relevant. The contribution of differing disease phenotypes to the syndrome may explain the inability of biomarker studies to identify all preeclampsia. Identification of phenotypes will require large amounts of prospective clinical data and biospecimens, collected in a harmonized manner with analysis in an unbiased discovery approach. PMID:26362531

  15. Dumping Syndrome.

    PubMed

    Hasler, William L.

    2002-04-01

    The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude fluid intake during ingestion of the solid portion of the meal. More severely affected individuals may respond to agents such as pectin and guar, which increase the viscosity of intraluminal contents, or to drugs such as the alpha-glucosidase inhibitor acarbose, which blunts the rapid absorption of glucose, and the somatostatin analog octreotide, which alters gut transit and impairs release of vasoactive mediators into the bloodstream. PMID:11879594

  16. Kleine–Levin Syndrome: A case report?

    PubMed Central

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

    2014-01-01

    The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature. PMID:26483915

  17. The progressive outer retinal necrosis syndrome.

    PubMed

    Holland, G N

    1994-01-01

    The progressive outer retinal necrosis (PORN) syndrome is a recently described clinical variant of necrotizing herpetic retinopathy in patients with the acquired immunodeficiency syndrome (AIDS). It is caused by varicellazoster virus infection of the retina. Its course and clinical features distinguish it from the acute retinal necrosis syndrome and CMV retinopathy. Early disease is characterized by multifocal deep retinal opacification. Lesions rapidly coalesce and progress to total retinal necrosis over a short period of time. Despite aggressive therapy with intravenous antivirial drugs, prognosis is poor; disease progression and/or recurrence is common, and the majority of patients develop no light perception vision. Total retinal detachments are common. Prophylaxis against retinal detachment using laser retinopexy has not been useful in most cases. PORN syndrome is an uncommon, but devastating complication of AIDS. PMID:7852023

  18. Central Pain Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  19. Carpal tunnel syndrome

    MedlinePLUS

    ... pain, numbness, tingling, or weakness. This is called carpal tunnel syndrome. ... Some people who develop carpal tunnel syndrome were born with a small carpal tunnel. Carpal tunnel syndrome can also be caused by making the same hand and ...

  20. Carpal Tunnel Syndrome

    MedlinePLUS

    ... Career Awards Enhancing Diversity Find People About NINDS Carpal Tunnel Syndrome Fact Sheet See a list of all NINDS ... a key nerve in the wrist. What is carpal tunnel syndrome? Carpal tunnel syndrome occurs when the median nerve, ...

  1. Down Syndrome: Eye Problems

    MedlinePLUS

    ... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...

  2. Toxic Shock Syndrome

    MedlinePLUS

    ... Toxic Shock Syndrome KidsHealth > Teens > Sexual Health > For Girls > Toxic Shock Syndrome Print A A A Text ... Is Toxic Shock Syndrome? If you're a girl who's had her period, you may have heard ...

  3. Complex Regional Pain Syndrome

    MedlinePLUS

    ... NINDS Complex Regional Pain Syndrome Information Page Synonym(s): Reflex Sympathetic Dystrophy Syndrome, Causalgia Condensed from Complex Regional ... Tel: 813-907-2312 Fax: 813-830-7446 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) P.O. Box ...

  4. Reye syndrome - resources

    MedlinePLUS

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...

  5. Ramsay Hunt syndrome

    MedlinePLUS

    Hunt syndrome; Herpes oticus ... The varicella zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and shingles. In people with Ramsay Hunt syndrome, the virus is believed to infect the ...

  6. Heart and Down Syndrome

    MedlinePLUS

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  7. Down Syndrome (For Parents)

    MedlinePLUS

    ... Kids Deal With Bullies Pregnant? What to Expect Down Syndrome KidsHealth > Parents > Diseases & Conditions > Genetic, Chromosomal & Metabolic Conditions > ... Screening and Diagnosis Resources That Can Help About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  8. National Down Syndrome Society

    MedlinePLUS

    donate Entire Site Down Syndrome Resources Ways to Give My Great Story Buddy Walk® Advocacy About NDSS The National Advocate for People with Down Syndrome Since 1979 National Down Syndrome Society 666 Broadway, ...

  9. What Causes Down Syndrome?

    MedlinePLUS

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry? . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  10. Ectopic Cushing syndrome

    MedlinePLUS

    ... in which a tumor outside the pituitary or adrenal glands produces a hormone called adrenocorticotropic hormone (ACTH). ... syndrome include: Cushing disease Cushing syndrome caused by adrenal tumor Exogenous Cushing syndrome

  11. Sexuality and Down Syndrome

    MedlinePLUS

    ... Down Syndrome Managing Behavior Sexuality Sexuality & Down Syndrome Social and Sexual Education Recreation & Friendship Education Education & Down Syndrome Schooling from Preschool to Age 21 Implementing Inclusion College & Postsecondary Options Looking for Postsecondary Education O' ...

  12. Sturge-Weber Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Sturge-Weber Syndrome Information Page Synonym(s): Encephalotrigeminal Angiomatosis Table of ... being done? Clinical Trials Organizations What is Sturge-Weber Syndrome? Sturge-Weber syndrome is a neurological disorder ...

  13. Tethered Spinal Cord Syndrome

    MedlinePLUS

    ... Enhancing Diversity Find People About NINDS NINDS Tethered Spinal Cord Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Tethered Spinal Cord Syndrome? Tethered spinal cord syndrome is a neurological ...

  14. Restless Legs Syndrome

    MedlinePLUS

    ... Legs Syndrome Overview What is restless legs syndrome (RLS)? Restless legs syndrome (also called RLS) is a condition in which your legs feel ... age and becomes a problem for older adults. RLS can make sleeping and traveling difficult and uncomfortable. ...

  15. Learning about Down Syndrome

    MedlinePLUS

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  16. Startle syndromes.

    PubMed

    Bhidayasiri, Roongroj; Truong, Daniel D

    2011-01-01

    Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599

  17. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the ?-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

  18. Nutcracker syndrome

    PubMed Central

    Gulleroglu, Kaan; Gulleroglu, Basak; Baskin, Esra

    2014-01-01

    The nutcracker phenomenon [left renal vein (LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery. Term of nutcracker syndrome (NCS) is used for patients with clinical symptoms associated with nutcracker anatomy. LRV entrapment divided into 2 types: anterior and posterior. Posterior and right-sided NCSs are rare conditions. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Symptoms include hematuria, orthostatic proteinuria, flank pain, abdominal pain, varicocele, dyspareunia, dysmenorrhea, fatigue and orthostatic intolerance. Existence of the clinical features constitutes a basis for the diagnosis. Several imaging methods such as Doppler ultrasonography, computed tomography angiography, magnetic resonance angiography and retrograde venography are used to diagnose NCS. The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension. The treatment options are ranged from surveillance to nephrectomy. Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient’s age and the stage of the syndrome. PMID:25374822

  19. Gitelman syndrome.

    PubMed

    Cotovio, Patricia; Silva, Cristina; Oliveira, Nuno; Costa, Fátima

    2013-01-01

    Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506

  20. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder. PMID:21125167

  1. Types of Myelodysplastic Syndromes

    MedlinePLUS

    ... Article Close Push escape to close saved articles window. My Saved Articles » My ACS » Myelodysplastic Syndromes + - Text Size Download Printable Version [PDF] » What Is Myelodysplastic Syndrome? TOPICS ...

  2. Therapy for alcoholic liver disease

    PubMed Central

    Jaurigue, Maryconi M; Cappell, Mitchell S

    2014-01-01

    Alcoholism results in about 2.5 million deaths annually worldwide, representing 4% of all mortality. Although alcoholism is associated with more than 60 diseases, most mortality from alcoholism results from alcoholic liver disease (ALD). ALD includes alcoholic steatosis, alcoholic hepatitis, and alcoholic cirrhosis, in order of increasing severity. Important scoring systems of ALD severity include: Child-Pugh, a semi-quantitative scoring system useful to roughly characterize clinical severity; model for end-stage liver disease, a quantitative, objective scoring system used for prognostication and prioritization for liver transplantation; and discriminant function, used to determine whether to administer corticosteroids for alcoholic hepatitis. Abstinence is the cornerstone of ALD therapy. Psychotherapies, including twelve-step facilitation therapy, cognitive-behavioral therapy, and motivational enhancement therapy, help support abstinence. Disulfiram decreases alcohol consumption by causing unpleasant sensations after drinking alcohol from accumulation of acetaldehyde in serum, but disulfiram can be hepatotoxic. Adjunctive pharmacotherapies to reduce alcohol consumption include naltrexone, acamprosate, and baclofen. Nutritional therapy helps reverse muscle wasting, weight loss, vitamin deficiencies, and trace element deficiencies associated with ALD. Although reduced protein intake was previously recommended for advanced ALD to prevent hepatic encephalopathy, a diet containing 1.2-1.5 g of protein/kg per day is currently recommended to prevent muscle wasting. Corticosteroids are first-line therapy for severe alcoholic hepatitis (discriminant function ? 32), but proof of their efficacy in decreasing mortality remains elusive. Pentoxifylline is an alternative therapy. Complications of advanced ALD include ascites, spontaneous bacterial peritonitis, esophageal variceal bleeding, hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and portopulmonary hypertension. Alcoholic cirrhotics have increased risk of developing hepatomas. Liver transplantation is the ultimate therapy for severe ALD, but generally requires 6 mo of proven abstinence for eligibility. Alcoholic cirrhotics who maintain abstinence generally have a relatively favorable prognosis after liver transplantation. PMID:24605013

  3. Electroconvulsive therapy

    MedlinePLUS

    Electroconvulsive therapy (ECT) uses an electric current to treat depression and some other mental illnesses. ... Welch CA. Electroconvulsive therapy. In: Stern TA, Rosenbaum JF, Fava ... General Hospital Comprehensive Clinical Psychiatry . 1st ed. ...

  4. Radiation Therapy

    MedlinePLUS

    ... Your Best Self Smart Snacking Losing Weight Safely Radiation Therapy KidsHealth > Teens > Diseases & Conditions > Cancer & Tumors > Radiation ... how to cope with side effects. What Is Radiation Therapy? Cancer is a disease that causes cells ...

  5. What Do Parents Want?: An Analysis of Education-Related Comments Made by Parents of Children with Different Genetic Syndromes.

    ERIC Educational Resources Information Center

    Fidler, Deborah J.; Lawson, John E.; Hodapp, Robert M.

    2003-01-01

    An analysis of educational desires found parents of children with Down syndrome (n=39) wanted changes in speech therapy and reading services, parents of children with Prader-Willi syndrome (n=25) wanted increases in adaptive physical education services, and parents of children with Williams syndrome (n=26) wanted increases in music services and…

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

    PubMed

    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. PMID:25669767

  7. Complex sleep apnea syndrome

    PubMed Central

    Wang, Juan; Wang, Yan; Feng, Jing; Chen, Bao-yuan; Cao, Jie

    2013-01-01

    Complex sleep apnea syndrome (CompSAS) is a distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. The mechanisms of why CompSAS occurs are not well understood, though we have a high loop gain theory that may help to explain it. It is still controversial regarding the prevalence and the clinical significance of CompSAS. Patients with CompSAS have clinical features similar to OSA, but they do exhibit breathing patterns like CSA. In most CompSAS cases, CSA events during initial CPAP titration are transient and they may disappear after continued CPAP use for 4~8 weeks or even longer. However, the poor initial experience of CompSAS patients with CPAP may not be avoided, and nonadherence with continued therapy may often result. Treatment options like adaptive servo-ventilation are available now that may rapidly resolve the disorder and relieve the symptoms of this disease with the potential of increasing early adherence to therapy. But these approaches are associated with more expensive and complicated devices. In this review, the definition, potential plausible mechanisms, clinical characteristics, and treatment approaches of CompSAS will be summarized. PMID:23861580

  8. Sanfilippo syndrome: Overall review.

    PubMed

    Andrade, Fernando; Aldámiz-Echevarría, Luis; Llarena, Marta; Couce, María Luz

    2015-06-01

    Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. It is characterized by progressive cognitive decline and severe hyperactivity, with relatively mild somatic features. This review focuses on clinical features, diagnosis, treatment, and follow-up of MPS III, and provides information about supplementary tests and differential diagnosis. Given that few reviews of MPS III have been published, several studies were compiled to establish diagnostic recommendations. Quantitative urinary glycosaminoglycan analysis is strongly recommended, and measurement of disaccharides, heparin cofactor II-thrombin complex and gangliosides is also used. Enzyme activity of the different enzymes in blood serum, leukocytes or fibroblasts, and mutational analysis for SGSH, NAGLU, HGSNAT or GNS genes are required to confirm diagnosis and differentiate four subtypes of MPS III. Although there is no global consensus for treatment, enzyme replacement therapy and gene therapy can provide appropriate results. In this regard, recent publications on treatment and follow-up are discussed. PMID:25851924

  9. Angelman syndrome (AS, MIM 105830)

    PubMed Central

    Van Buggenhout, Griet; Fryns, Jean-Pierre

    2009-01-01

    Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, neurological problems and distinct facial dysmorphic features. Behavioural problems such as hyperactivity and sleeping problems are reported, although these patients present mostly a happy personality with periods of inappropriate laughter. Different underlying genetic mechanisms may cause AS, with deletion of chromosome 15 as the most frequent cause. Other genetic mechanisms such as paternal uniparental disomy, imprinting defect and mutation in the UBE3A gene are present in smaller groups of patients with AS. As the recurrence risk can be up to 50%, the clinical diagnosis of AS should be confirmed by laboratory tesing, and genetic counselling should be provided. Treatment of seizures, physical therapy or other intervention strategies are helpful to ameliorate the symptoms. PMID:19455185

  10. Reye's syndrome: a clinical review.

    PubMed

    Crocker, J F; Bagnell, P C

    1981-02-15

    Reye's syndrome is a virus-associated biphasic disease that causes acute encephalopathy in infants and children. Epidemiologic and experimental data support the hypothesis that it is a multifactorial disease of modern civilization. Just as young patients seem to be recovering uneventfully from the first phase of the illness, usually a nonspecific viral-like illness such as a respiratory tract infection or gastroenteritis, the second phase, encephalopathy, starts unexpectedly, with vomiting and sensorial changes. Identifying the syndrome early ;in the second phase and referring the child to a specialized centre with the experience, staff and facilities to manage this phase has improved the numbers and neurologic condition of survivors, though the overall mortality is still about 20%. Therapy is primarily directed at facilitating adequate cerebral perfusion pressure. PMID:6783291

  11. [Multimodal pain therapy: principles and indications].

    PubMed

    Arnold, B; Brinkschmidt, T; Casser, H-R; Gralow, I; Irnich, D; Klimczyk, K; Müller, G; Nagel, B; Pfingsten, M; Schiltenwolf, M; Sittl, R; Söllner, W

    2009-04-01

    Multimodal pain therapy describes an integrated multidisciplinary treatment in small groups with a closely coordinated therapeutical approach. Somatic and psychotherapeutic procedures cooperate with physical and psychological training programs. For chronic pain syndromes with complex somatic, psychological and social consequences, a therapeutic intensity of at least 100 hours is recommended. Under these conditions multimodal pain therapy has proven to be more effective than other kinds of treatment. If monodisciplinary and/or outpatient therapies fail, health insurance holders have a legitimate claim to this form of therapy.Medical indications are given for patients with chronic pain syndromes, but also if there is an elevated risk of chronic pain in the early stadium of the disease and aiming at delaying the process of chronification. Relative contraindications are a lack of motivation for behavioural change, severe mental disorders or psychopathologies and addiction problems. The availability of multimodal pain treatment centers in Germany is currently insufficient. PMID:19156448

  12. [Hyperviscosity syndrome].

    PubMed

    Dumas, G; Merceron, S; Zafrani, L; Canet, E; Lemiale, V; Kouatchet, A; Azoulay, E

    2015-09-01

    Hyperviscosity syndrome is a life-threatening complication. Clinical manifestations include neurological impairment, visual disturbance and bleeding. Measurement of plasma or serum viscosity by a viscometer assesses the diagnosis. Funduscopic examination is a key exam because abnormalities are well-correlated with abnormal plasma viscosity. Etiologies are various but symptomatic hyperviscosity is more common in Waldenström's macroglobulinemia and multiple myeloma. Prompt treatment is needed: treatment of the underlying disease should be considered, but generally not sufficient. Symptomatic measures aim to not exacerbate blood viscosity while urgent plasmapheresis effectively reduces the paraprotein concentration and relieves symptoms. PMID:25778852

  13. Postmenopausal syndrome.

    PubMed

    Dalal, Pronob K; Agarwal, Manu

    2015-07-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  14. Postmenopausal syndrome

    PubMed Central

    Dalal, Pronob K.; Agarwal, Manu

    2015-01-01

    Menopause is one of the most significant events in a woman's life and brings in a number of physiological changes that affect the life of a woman permanently. There have been a lot of speculations about the symptoms that appear before, during and after the onset of menopause. These symptoms constitute the postmenopausal syndrome; they are impairing to a great extent to the woman and management of these symptoms has become an important field of research lately. This chapter attempts to understand these symptoms, the underlying pathophysiology and the management options available. PMID:26330639

  15. Severe Central Sleep Apnea in Vici Syndrome.

    PubMed

    El-Kersh, Karim; Jungbluth, Heinz; Gringras, Paul; Senthilvel, Egambaram

    2015-11-01

    Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections. EPG5 sequencing (prompted by suggestive clinical features) revealed a homozygous missense mutation, c.1007A>G (p.Gln336Arg). The patient was referred to our center for evaluation of nocturnal apnea. Overnight polysomnography showed severe central sleep apnea (CSA) with an overall apnea-hypopnea index of 100.5 events per hour of sleep (central apnea index of 97.5, mixed apnea index of 2, and obstructive hypopnea index of 1). The patient responded to bilevel positive airway pressure therapy with a backup rate with normalization of the apnea-hypopnea index and maintenance of oxygen saturation >90%. Despite successful control of the severe CSA, the patient was eventually started on nocturnal oxygen therapy due to excessive upper airway secretions and the high risk of possible aspiration with positive airway pressure therapy. This is the first report of EPG5-related Vici syndrome associated with CSA. We discuss the polysomnographic findings in our patient in the context of a brief literature review of the reported sleep abnormalities in Vici syndrome. PMID:26482670

  16. Antiphospholipid antibody syndrome.

    PubMed

    Lim, Wendy

    2009-01-01

    The antiphospholipid antibody syndrome (APS) is defined by the persistent presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism or pregnancy morbidity. Anti-thrombotic therapy is the mainstay of treatment given the high risk of recurrent thromboembolism that characterizes this condition. Despite the prothrombotic nature of APS, thrombocytopenia is present in a proportion of patients. which can complicate management and limit the use of antithrombotic therapy. The mechanism of APS-associated thrombocytopenia is multifactorial and its relation to thrombotic risk poorly characterized. However, the presence of thrombocytopenia does not appear to reduce thrombotic risk in patients with APS, who can develop thromboembolic complications necessitating antithrombotic treatment. In these cases, treatment of the thrombocytopenia may be necessary to facilitate administration of antithrombotic agents. Clinical trials have demonstrated that patients with antiphospholipid antibodies and venous thromboembolism should be treated with vitamin K antagonists (warfarin); that ischemic stroke may be treated with aspirin or warfarin; and that women with recurrent pregnancy loss should receive prophylactic-dose heparin and aspirin. However, application of these trial results to patients with APS-associated thrombocytopenia can be challenging since there are limited data on the optimal use of antithrombotic agents in this setting. Issues such as determining the platelet threshold at which antithrombotic agents can be safely used and managing patients with both bleeding and thromboembolic complications remain unresolved. Ultimately the risks and benefits of antithrombotic therapy, balanced against the severity of the thrombocytopenia and its potential bleeding risks, need to be assessed using an individualized patient approach. PMID:20008203

  17. The effects of extracorporeal shock wave therapy on pain patients.

    PubMed

    Fricová, Jitka; Rokyta, Richard

    2015-01-01

    The method of shock wave therapy (ESWT) was used for the treatment of several symptoms of chronic pain. There were especially: cervical syndromes, lumbago, plantar fasciitis, achillodynia, metatarsalgia and humeral epicondylitis. We confirmed the positive effect of shock wave therapy for pain relief on these syndromes. This method is also effective in other pain syndromes. The effect of this application is very individual and therefore it is necessary to indicate differing numbers of therapeutic applications. We recommend this method as a very useful tool for completion possibilities in the treatment of chronic pain. PMID:26071587

  18. Holmes-Adie Syndrome

    MedlinePLUS

    ... Adie syndrome Information Page Synonym(s): Adie's Syndrome, Adie's Pupil Table of Contents (click to jump to sections) What is Holmes-Adie syndrome ? Is there any treatment? What is the prognosis? What ... syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. ...

  19. [Mirizzi's syndrome].

    PubMed

    Roullet-Audy, J C; Guivarc'h, M; Mosnier, H

    1989-04-15

    Six cases of Mirizzi syndrome are reported. The syndrome consists of a special anatomical variant of the cystic duct, which has a low opening but runs side-by-side with the common bile duct, associated with entrapment of a gallstone in the cystic duct or the neck of the gallbladder, partial or total obstruction of the hepatic duct by the stone and by inflammatory lesions, and recurrent cholangitis. Clinical signs are non-specific and suggest at first sight an obstructive jaundice. Pre-operative morphological examination seldom provide a diagnosis before surgery. In the most typical cases ultrasonography shows dilatation of the upper biliary tract with narrowing of the hepatic duct below the dilatation, due to a stone located outside the common bile duct. Opacification of the biliary tract by endoscopic retrograde catheterization of the papilla duodeni or by transparietohepatic puncture give suggestive images (non-opacification of the cystic duct, narrowing of the hepatic duct opposite the extrinsic compression, with overlying dilatation), but these images are not specific. The per-operative diagnosis is difficult owing to the inflammatory lesions, and a diagnosis of cholangiocarcinoma may be envisaged. Cholecystectomy with recanalization of the cystic duct suppresses the extrinsic compression and helps the inflammatory lesions to regress. However, opening and draining the common bile duct is often necessary. PMID:2524051

  20. Laboratory-Treated T Cells in Treating Patients With High-Risk Relapsed Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Chronic Myelogenous Leukemia Previously Treated With Donor Stem Cell Transplant

    ClinicalTrials.gov

    2015-09-30

    Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome; Adult Myelodysplastic Syndrome; Childhood Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Secondary Acute Myeloid Leukemia; Therapy-Related Acute Myeloid Leukemia

  1. [Non-ST acute coronary syndromes].

    PubMed

    Collet, J Ph; Choussat, R; Montalescot, G

    2002-11-01

    Acute coronary syndromes are the first cause of death in France. Unstable angina is the most frequent acute coronary syndrome. Risk stratification to predict morbimortality and the risk of major hemorrhage is the key step of the medical approach. Combined antithrombotic therapy (aspirine + clopidogrel + LMWH) has led to a substantial reduction of major coronary events with a good tolerance because of the short duration of such aggressive strategy. This combined antithrombotic also allowed to increase the benefit of an early invasive strategy including coronary angiogram with stent percutaneous coronary intervention. PMID:12500603

  2. Pseudotumour cerebri syndrome due to cryptococcal meningitis.

    PubMed Central

    Cremer, P D; Johnston, I H; Halmagyi, G M

    1997-01-01

    Three cases are reported of the pseudotumour cerebri syndrome-that is, intracranial hypertension without mass lesion or enlarged ventricles, due to cryptococcal meningitis. In these patients the papilloedema was successfully treated with optic nerve sheath decompression, and the intracranial hypertension with lumboperitoneal CSF shunting. These cases support the concept that pseudotumour cerebri is a syndrome of intracranial hypertension that can be due to any disorder producing obstruction of the CSF pathways at the level of the arachnoid villi. This concept is important because it directs therapy to normalise the intracranial pressure and preserve vision. Images PMID:9010409

  3. Management of IRVAN syndrome with observation.

    PubMed

    Basha, Madhi; Brown, Gary C; Palombaro, Geremie; Shields, Carol L; Shields, Jerry A

    2014-01-01

    A 7-year-old girl with IRVAN (idiopathic retinal vasculitis, aneurysms, and neuroretinitis) syndrome was monitored for 9 years. The patient had symmetric multiple aneurysmal dilations, retinal vasculitis, and severe hard exudation in the macula bilaterally. Long-term visual acuity in her untreated right eye was 20/25. In the left eye, treated with laser panretinal photocoagulation and intravitreal vascular endothelial growth factor inhibitor therapy, visual acuity decreased to 20/200 from macular hard exudates and central fibrovascular tissue. Observation is a consideration in IRVAN syndrome if the vision remains good with hard exudation. PMID:24766157

  4. Perioperative Medicine and Pain Therapy Clerkship MID-ROTATION EVALUATION

    E-print Network

    Sherman, S. Murray

    your scores. 0 1 2 3 4 5 Diagnosis and Management in Perioperative Medicine and Pain Therapy 1 for the management of common acute pain syndromes. 6. Lists the signs and symptoms of allergic) or other transfusionPerioperative Medicine and Pain Therapy Clerkship MID-ROTATION EVALUATION The University of Chicago

  5. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS syndrome): a paraneoplastic syndrome

    PubMed Central

    Kumar, Sunil; Sharma, Shruti

    2015-01-01

    POEMS syndrome (Crow–Fukase syndrome) is a rare paraneoplastic disorder. It is characterized by peripheral neuropathy, elevated vascular endothelial growth factors (VEGFs), monoclonal gammopathy, sclerotic bone lesions and Castleman disease. Other important clinical features are organomegaly, edema, ascites, papilledema, endocrinopathy, skin changes and thrombocytosis. A high index of suspicion, a detailed clinical history and examination followed by appropriate laboratory investigations like VEGF level, radiological skeletal survey and bone marrow biopsy are required to diagnose POEMS syndrome. We report a case of POEMS syndrome who presented with insidious onset, progressive sensorimotor polyneuropathy, pedal edema, ascites, hepatomegaly, skin changes and hypothyroidism. X-ray of the pelvis showed osteosclerotic lesions. Immunoelectrophoresis using the immunofixation method revealed lambda chain monoclonal gammopathy. The patient was given radiotherapy, followed by a combination therapy of melphalan and dexamethasone. We emphasize the importance of recognizing a challenging diagnosis of a rare disease, which is shown to be treatment responsive. PMID:26634133

  6. PLUMMER VINSON SYNDROME - is it common in males?

    PubMed

    Bakshi, Satvinder Singh

    2015-09-01

    BackgroundPlummer-Vinson syndrome is characterized by a triad of dysphagia, iron deficiency anemia and esophageal web. Most of the patients are middle aged women in the fourth to seventh decade of life.ObjectiveVery few cases of Plummer-Vinson syndrome affecting males have been reported. Here we report a series of male patients found to be suffering from Plummer-Vinson syndrome.MethodsFive males presented to us with dysphagia and fatigue of various durations, from April to August, 2012.ResultsThese patients were found to have iron deficiency anemia and esophageal web on subsequent investigations and were treated successfully with oral iron therapy.ConclusionPlummer-Vinson syndrome is common in both males and females and can be successfully treated with oral iron therapy. The patients have an increased risk of developing gastrointestinal malignancies and should be thoroughly evaluated for the same. PMID:26486296

  7. Suggested variations on standard carpal tunnel syndrome assessment tests.

    PubMed

    Lowe, Whitney

    2008-04-01

    Carpal tunnel syndrome is a highly prevalent peripheral neuropathy and manual therapy practitioners are likely to have clients presenting with this condition. There are no definitive diagnostic procedures that have shown a high degree of accuracy in identifying carpal tunnel syndrome. In addition, manual therapy practitioners do not have access to high-tech diagnostic procedures and therefore rely on physical examination methods to identify peripheral neuropathies like carpal tunnel syndrome. Several special orthopedic testing procedures have shown value in predicting the presence of carpal tunnel syndrome. Combining these standard testing procedures with neurodynamic principles allows for modifications to these tests making them more sensitive in identifying median nerve compression neuropathy in the carpal tunnel. PMID:19083667

  8. Extrapyramidal syndrome

    PubMed Central

    Panda, Akhila Kumar; Bala, Kiran; Bhirud, Lomesh

    2014-01-01

    Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50?mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning. PMID:24398867

  9. Nodding Syndrome

    PubMed Central

    Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.

    2013-01-01

    An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548

  10. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2and GRIP1genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  11. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

    PubMed

    Singh, Michael N; Lacro, Ronald V

    2016-01-01

    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of ?-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either ?-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of ?-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. PMID:26724512

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

    PubMed Central

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

    2014-01-01

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

  13. Two sisters with Reed's syndrome: treatment with pregabalin.

    PubMed

    Yaldiz, Mahizer; Metin, Murcan; Erdem, Mustafa Teoman; Dikicier, Bahar Sevimli; Kahyaoglu, Zeynep

    2015-01-01

    Cutaneous leiomyomas, which originate in the arrector pili muscles of the skin are rarely seen benign cutaneous tumors. Sometimes familial cutaneous and uterine leiomyomatosis can occur together, an autosomal dominant genetic condition called Reed syndrome or familial leiomyomatosis cutis et uteri. This disorder can be accompanied by malignancies, particularly by renal carcinoma. In this paper, two sisters with Reed syndrome are presented in view of the rarity of the disorder and good response to pregabalin therapy. PMID:26437289

  14. Piriformis muscle syndrome: a recurrent case after surgical release

    PubMed Central

    Haghnegahdar, Ali; Sedighi, Mahsa; Motalebi, Hassan

    2015-01-01

    We report a recurrent Piriformisc muscle syndrome after surgical release. After the primary neurolysis, a second operation was performed to release adhesions. This case shows a different type of sciatic nerve entrapment by an abnormal thin muscle slip. Results of the revision surgery guide us to the point that revision surgery for Piriformis muscle syndrome should be meticulously selected, and after considering medical and interventional therapies. PMID:26286539

  15. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with ?-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose ?-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the disease is usually good in patients that are correctly diagnosed and treated. However, there are a few exceptions: patients with Timothy syndrome, patients with Jervell Lange-Nielsen syndrome carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of cardiac arrhythmias. PMID:18606002

  16. Genetics Home Reference: Horner syndrome

    MedlinePLUS

    ... 250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. What genes are related to Horner syndrome? Although congenital Horner syndrome can ...

  17. [The Hypereosinophilic Syndromes in Childhood].

    PubMed

    Leu, T; Simon, H-U; Hebestreit, H; Kunzmann, S

    2015-11-01

    The hypereosinophilic syndromes are rare disorders in childhood and require extensive differential diagnostic considerations. In the last years the earlier "idiopathic HES" called syndromes could be differentiated into molecular biologically, immunophenotypically and clinically more characterized heterogeneous diseases with high therapeutic and prognostic relevance. Nowadays the term HES summarizes diseases, which go hand in hand with a local or systemic hypereosinophilia (HE) connected with an organ damage. Depending on the cause of the HE one differentiates primary/neoplastic HES (HESN) from secondary/reactive HES (HESR). The latter develops reactively in connection with allergies, parasitosis, medications, neoplasia or a clonal increase of T-lymphocytes among others. With HESN the HE results from a clonal increase of eosinophilic granulocytes. While for some subgroups of the HESN (among others FIP1L1-PDGFRA fusion gene) the administration of a tyrosine kinase inhibitor is a new and effective therapy option, glucocorticoids still represent the medication of first choice for many not PDGFRA associated variants. Different immunomodulatory drugs or cytostatic agents are necessary to allow dose reduction of glucocorticoids. The promising therapy with anti-IL-5 antibodies is still not approved in infancy, could however become a treatment option in the future. Due to the present lack of knowledge about the HES in infancy the establishment of a register should be aimed for the treatment of HES in infancy. PMID:26267413

  18. Novel Renal Biomarkers to Assess Cardiorenal Syndrome

    PubMed Central

    Brisco, Meredith A.; Testani, Jeffrey M.

    2014-01-01

    Renal dysfunction (RD) in heart failure portends adverse outcomes and often limits aggressive medical and decongestive therapies. Despite the high prevalence in this population, not all forms of RD are prognostically or mechanistically equivalent: RD can result from irreversible nephron loss secondary to diabetic or hypertensive kidney disease or it can develop secondary to the HF itself, i.e. the cardiorenal syndrome. Furthermore, filtration is only one aspect of renal performance such that significant renal impairment secondary to cardiorenal syndrome can exist despite a normal glomerular filtration rate. Renal biomarkers have the potential to inform some of the intricacies involved in accurately assessing cardiorenal interactions. This article discusses novel biomarkers for cardiorenal syndrome and their utility in prognosis, diagnosis, and targeted treatment of heart failure-induced RD. PMID:25239434

  19. [Toxic shock syndrome after open ankle fracture].

    PubMed

    Klüter, T; Fitschen-Oestern, S; Weuster, M; Fickenscher, H; Seekamp, A; Lippross, S

    2015-07-01

    The treatment of open fractures is a challenge for the attending surgeon. Depending on the severity, the risk of infection rises up to 50%. Local infection up to the point of sepsis can develop in spite of surgical and antimicrobial therapy. The present case demonstrates the case of an 18-year-old man who developed toxic shock syndrome (TSS) after an open ankle fracture. This potentially life-threating syndrome usually presents with the main symptoms of fever, hypotension and exanthema and is caused by toxins, such as toxic shock syndrome toxin 1 (TSST-1) and staphylococcal enterotoxins A-D. In some cases it is associated with cardiopulmonary decompensation and can rapidly progress to multiorgan failure. PMID:25312681

  20. Papillion-Lefèvre Syndrome: Periodontists' Perspective

    PubMed Central

    Biraggari, Sunil Kumar; Reddy, K. Krishna Mohana; Sudhakar, J.; Bugude, Shiva Shankar; Nichenametla, Rajesh; Hakeem, Mazher Ahmed; Tiyyagura, Swati Reddy

    2015-01-01

    Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. The present case report describes a 13-year-old female, who visited the Department of Periodontology with the chief compliant of bleeding gums and loose teeth. She presented with the signs and symptoms of Papillion-Lefèvre Syndrome. The patient had premature shedding of her deciduous dentition. On clinical examination, extraorally, the patient presented with persistent thickening, flaking, and scaling of the skin of palms and soles. Her intraoral examination revealed gingival inflammation, abscess formation, and periodontal pockets. Her intraoral radiographs showed bone loss involving the central incisors and molars. The patient underwent periodontal therapy and is under maintenance. PMID:26523234